Usmle Need-To-Know Diseases

Front 1

Polymyositis

Back 1

Progressive symmetrical prox mus weakness. CD8+ T-cell damage to muscle. See pathology in the ENDOMYSIUM. Sometimes see inflammation in individual fibers. No perivascular atrophy (vs. Dermatomyositis). No degenerative changes. Most likely autoimmune. Steroids effective.

Front 2

Dermatomyositis

Back 2

One of the only inflamm myositis that CHILDREN can get. See PERIVASCULAR inflamm in EPI- and PERIMYSIUM. See microinfarcts. Tubuloreticular inclusions on EM.

Sim to polymyositis, but also involves malar rash (similar to SLE), heliotrope rash (around eyes). Grottron's papules (Discrete erythematous papules overlying the metacarpal and interphalangeal joints). "mechanics hands". Inc risk of malignancy. Inc CK. Inc aldolase. Positive ANA, anti-Jo-1. Txt: steroids.

Front 3

Inclusion body myositis

Back 3

Older males. Usually affects wrist, finger extensors, thigh muscles. Inflamm pattern is like polymyositis (CD8+). See variation in size of muscle. See rimmed vaculoes, tubulofilamentous inclusions, ragged red fibers, parking lot inclusions in mito. Steroids not effective.

Front 4

Polymyalgia rheumatica

Back 4

Pain in shoulders and hips
often with fever, malaise, wt loss
does not cause muscle weakness.
In pts > 50 yo
associated with temporal (giant cell) ateritis.
Inc ESR, normal CK
txt: prednisone

Front 5

Orotic aciduria

Back 5

Inability to convert orotic acid to UMP (de novo pyrimidine synth path) due to defect either in orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxylate.

Autosomal recessive

Findings:
Inc in orotic acid in urine
Megloblastic anemia (does not improve with admin of vit B12 or folic acid), failure to thrive.
NO hyperammonemia (vs OTC deficiency, see Inc orotic acid with hyperammonemia

Txt: oral uridine administration

Front 6

Adenosine Deaminase Deficiency

Back 6

Excess ATP and dATP imbalances nucleotide pool via feedback inhibition of ribonucleotide reductase. This prevents DNA synthesis and decreases lymphocyte count. One of the major causes of SCID.

Front 7

Lesch-Nyhan Syndrom

Back 7

Defective purine salvage owing to absence of HGPRT, which converts hypoxanthine to IMP and guanine to GMP. Results in excess urinic acid production.

Findings: retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis.

HGPRT: He's Got Purine Recovery Trouble.

LNS: Lacks Nucleotide Salvage (Purine)

HGPRT: Hypoxanthine-guanine phosphoribosyltransferase.

X-linked recessive.

Front 8

Xeroderma Pigmentosum

Back 8

Mutation of nucleotide excision repair, prevents repair of thymidine dimers.

Dry skin with melanoma and other cancers.
Especially susceptible to SCC

Front 9

Hereditary nonployposis colorectal cancer (HNPCC)/Lynch syndrome

Back 9

AD mutation of mismatch repair. 80% progress to CRC. Proximal colon is always involved.

Front 10

I-cell disease (Inclusion cell disease)

Back 10

Inherited lysosomal storage disorder, failure of addition of mannose-6-phosphate to lysomome proteins (enzymes are secreted outside the cell instead of being targeted to teh lysosome.

Results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosmal enzymes. Often fatal in childhood.

Front 11

Chediak-Higashi syndrome

Back 11

Microtubule polymerization defect resulting in decreased phagocytosis.

Results in recurrent pyogenic infections, partial albinism, and peripheral neuropathy.

AR

Front 12

Kartagener's syndrome

Back 12

Immotile cilia due to a dynein arm defect.

Results in male and female infertility (sperm immotile), bronchiectasis, and recurrent sinusitis (bacteria and particles not pushed out); associated with situs inversus (reversal of the thorasic organs - normal is situs solitus)

Front 13

Ehlers-Danlos syndrome

Back 13

Faulty collagen synthesis causing:
1. Hyperextensible skin
2. Tendency to bleed (easy bruising)
3. Hypermobile joints

6 types. Inheritance and severity vary. Can be autosomal dominant or recessive. May be associated with joint dislocation, berry aneursyms, organ rupture.

TYPE III collagen is most frequently affected.

Front 14

Osteogenesis Imperfecta

Back 14

Genetic bone disorder (brittle bone disease) caused by a variety of gene defects

Most common form is autosomal dominant with abnormal type I collagen, causing:

1. Multiple fractures with minimal trauma; may occur during the birth process.
2. Blue sclera due to the translucency of the connective tissue over the choroid.
3. Hearing loss (abnormal middle ear bones)
4. Dental imperfections due to lack of dentin.

May be confused with child abuse.
Type II is fatal in utero or in the neonatal period
Incidence is 1:10,000

Front 15

Alport's syndrome

Back 15

Due to a variety of gene defects resulting in abnormal type IV collagen. Most common form is X-linked recessive.

Characterized by progressive hereditary nephritis and deafness. May be associated with ocular disturbances.

Type IV collagen is an important structural component of the basement membrane of the kidney, ears, and eyes.

Front 16

Disease of collagen
type I
type III
type IV

Back 16

type I: Osteogenesis imperfecta
type III: Ehlers-Danlos
type IV: Alport's

Front 17

Marfan's syndrome

Back 17

Caused by a defect in fibrillin. Causes a CT disorder that affects the skeleton, heart, eyes.

CP: tall, long extremities, pectus excavatum (going in), hyperextensive jionts, and long, tapering fingers and toes (arachnodactyly). Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneursyms, floppy mitral valve. Subluxation of lenses.

Marfan's, MEN 2B, and homocystinuria all cause marfinoid habitus! (Locus heterogenicity - mutations at different loci can produce the same phenotype).

Mut on chr 15. Fibrillin is a component of elastn- associated microfibrils (kaplan)

Front 18

c/c Prader- Willi syndrome and Angelmann's syndrome

Back 18

Both are due to inactivation or deletion of genes on chromosome 15. Can also occur as a result of uniparental disomy.

At a single locus, only 1 allele is active; the other is inactive (imprinted/inactivated by methylation). Deletion of the active allele leads to disease.

Prader-Willi: Deletion of normally active Paternal allele

CP: MR, hyperphagia, obesity, hypogonadism, hypotonia.

AngelMan's: Deletion of normally active Maternal allele

CP: MR, sz, ataxia, inappropriate laughter ("happy puppet")

Front 19

Hyperphosphatemic rickets (vitamin D resistant rickets)

Back 19

Inherited disorder (X-linked dominant) resulting in inc phosphate wasting at the proximal tubule. Results in ricket like presentation.

Front 20

Leber's hereditary optic neuropathy

Back 20

Mitochondrial inheritance

Degeneration of retianl ganglion cells and axons. Leads to acute loss of central vision.

Front 21

Achondroplasia

Back 21

Cell-signalling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs, but head and trunk are normal size. Associated with advanced paternal age. Autosomal dominant

Front 22

Autosomal dominant polycystic kidney disease (ADPKD)

Back 22

Formerly known as adult polycystic kidney disease. Always BILATERAL, massive enlargement of kidneys due to multiple large cysts. CP: flank pain, hematuria, HTN, progressive renal failure. (90% are due to mutation in APKD1 (chromosome 16;16 [sixteen letters in "polycystic kidney"]

Associated with polycystic liver disease, BERRY ANEURSYMS, mitral valve prolapse.

Infantile form is recessive.

Front 23

Familial adenomatous polyposis

Back 23

Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Always involves the rectum.

Deletion on chr 5q (APC gene), there are five letters in "polyp"

Autosomal dominant

Front 24

Familial hypercholesterolemia (hyperlipidemia type IIA)

Back 24

Elevated LDL due to defective or absent LDL receptor. Heterozygotes (1:500) have cholesterol around 300 mg/dL, while homozygotes (very rare) have chol of 700+

Have severe atherosclerotic disease early in life, and tendon xanthomas (esp in the Achilles tendon); MI may develop before age 20.

Autosomal dominant

Front 25

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

Back 25

Autosomal dominant inherited disorder of blood vessels. Findings: telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations.

Front 26

Hereditary Spherocytosis

Back 26

Spheroid erythrocytes due to spectrin or ankyrin defect; hemolytic anemia; increased MCHC (mean corpuscular hemoglobin concentration, MCHC = MGB/HCT)

Splenectomy is curative

Autosomal dominant

Front 27

Huntington's disease

Back 27

Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and dec levels of GABA and ACh in the brain. Sx manifest bet 20 and 50. Chr 4 ("HUNTing 4 food"), trinucleotide repeat disorder: (CAG).

Front 28

Multiple Endocrine Neoplasias (MEN)

Back 28

Several distinct syndromes (1, 2A, 2B), characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla. MEN 2A and 3N are associated with ret gene (neural crest cells).

MEN 2A:
- adrenal medulla (pheochromocytoma)
- parathyroid tumor: 3rd/4th pharyngeal pouch
- parafollicular cells (medullary thyroid cancer): 4th/5th pharyngeal pouch.

Front 29

Neurofibromatosis type 1 (von Recklinghausen's disease)

Back 29

CP: cafe-au-lait spots, neral tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (e.g. scoliosis), optic pathway gliomas, pheochromocytoma, and inc tumor susceptibility. Located on the long arm of chromosome 17 (17 letters in Recklinghausen)

Autosomal dominant

Front 30

Neurofibromatosis type 2

Back 30

Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on ch 22

Type 2 = 22

Autosomal dominant

Front 31

Tuberous sclerosis

Back 31

CP: facial lesions (adenoma sebaceum [angiofibromata]), hypopigmented "ash leaf spots" on the skin, cortical and retinal hamartomas, sz, MR, renal cysts, and renal angiomyolipomas, cardiac rhabdomyomas, inc incidence of astrocytomas.

Autosomal dominant, incomplete penetrance, variable presentation.

Front 32

von Hippel-Lindau disease

Back 32

CP: hemangiblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral reanl cell carcinomas and other tumors (esp in blood rich areas). Associated with deletion of VHL gene (tumor suppressor) on chr 3 (3p). Results in constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors. Von Hippel-Lindau = 3 words = chr 3.

Autosomal dominant

Front 33

Sturge-Weber syndrome

Back 33

Port-wine stains on face (nevus flammens). Leptomeningeal angiomas

Front 34

Cystic Fibrosis

Back 34

Autosomal recessive defect in the CFTR gene on chr 7 (usually deletion of Phe 508).

Defective Cl- channel --> thick mucus --> infections (Pseudomonas, S. aureus), chronic bronchitis, bronchiectasis, pancreatis insufficiency (malabsorption and steotorrhea), meconium (thick and congested first stool in a newborn) ileus in newborns.

Mut causes ab protein folding.

Infertility due to bilateral absence of the Vas Deferens. See fat soluble deficiencies.

Most common lethal disease of Caucasians.

Inc conc of Cl- ions in sweat is diagnostic.

Treatment: N-acetylcysteine to loosen mucous plugs (cleaves disulfide bonds within mucous glycoproteins).

Front 35

X-linked recessive disorders

Back 35

Be Wise, Fool's GOLD Heeds Silly Hope

Bruton's agammaglobulinemia
Wiskott-Aldrich syndromw
Fabry's disease
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne's (and Becker's) muscular dystrophy
Hunter's syndrome
Hemophilia A and B

Front 36

Duchenne's Muscular Dystrophy

Back 36

X-linked frame-shift mutation --> deletion of the dystrophin gene --> accelerated muscle breakdown.

Weakness begins in pelvic girdle and progresses superiorly. Pseudohypertrophy of calf muscles; cardiac myopathy.

Use of Gower's maneuver, requiring assistance of the upper extremities to stand up is characteristic. Onset before age 5.

Duchenne's = Deleted Dystrophin

Dystrophin gene (DMD) is the longest known human gene, thus there is a greater risk of mutation. Dystrophin helps anchor muscle fibers, and is found primarily in skeletal and cardiac muscle.

Front 37

Fragile X syndrome

Back 37

X-linked defect affecting the methylation and expression of the FMR1 gene. Assoc with chromosomal breakage. The 2nd most common cause of genetic MR (after Down's).

CP: Macro-orchidism (enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse.

Trinucleotide repeat disorder (CGG)n

Fragile X = eXtra-large testes, jaw, ears

Front 38

Becker's Muscular Dystrophy

Back 38

X-linked mutated dystrophin gene. Less severe than Duchenne's. Onset in adolescence or early adulthood.

Front 39

Trinucleotide repeat expansion diseases

Back 39

"Try (trinucleotide) hunting for my fried eggs (X)"

Huntington's
Myotonic dystrophy
Friedreich's ataxia
Fragile X syndrome

Huntington's = (CAG)
MyoTonic dystrophy = (CTG)
FraGile X syndrome = (CGG)
Friedreich's ataxia = (GAA)

Front 40

Down Syndrome

Back 40

Trisomy 21 (1:700)

CP: MR, flat facies, prominent epicanthal folds (on upper eyelid), simian crease, gap bet 1st and 2nd toes, duodenal atresia (failure of recanalization of gut tube after a period of epithelial proliferation leaving the lumen occluded, congenital heart disease (most commonly a septum-primum type ASD).

Assoc w inc risk of ALL and Alzheimer's dz (above 35 y.o.)

95% of cases are due to meiotic nondisjunction (adv maternal age)

4% due to Robertsonian translocation.
1% due to Down's mosiacism (no maternal association)

Most common chr dis and most common cause of congenital MR.

Results of preg quad screen:
Dec alpha fetoprotein
Inc B-HCG
Dec estriol
Inc inhibin A

Nuchal translucency on US

(D)rinking age = 21

Front 41

Edward's syndrome

Back 41

Trisomy 18 (1:8000)

Severe MR, rocker-bottom feet, micrognathia (small jaw), low-set ears, clenched hands, prominent occiput, congenital heart disease. Death usually occurs within 1 year of birth.

(E)lection age = 18

After Down's, most common trisomy resulting in a live birth

Front 42

Patau's syndrome

Back 42

Trisomy 13 (1:15,000)

Severe MR, rocker-bottom feet, microphthalmia (small eyes), microcephaly, mid-line defects, cleft lip/Palate, holoProsencephaly, Polydactyly, congenital heart disease. Death usually occurs within one year of birth.

(P)uberty = 13

Front 43

Cri-du-chat syndrome

Back 43

Congenital microdeletion of short arm of chr 5 (46,XX or XY, 5p-)

Findings: microcephaly, moderate to severe MR, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities

Anti-mongoloid slant to the palpebral fissures.

Cri du chat = "Cry of the cat"

Cri du chat syn-drome has 5 syllables = chr 5.

Cry is most likely due to laryngeal malformation which also causes feeding problems

Front 44

Williams syndrome

Back 44

Congenital microdeletion of the long arm of chr 7 (deleted region includes the elastin gene).

Findings: distinctive "elfin" facies, MR, hypercalcemia (due to inc sensitivity to Vit D), well-developed verbal skills, extreme friendliness with strangers, cardiovascular problems

Front 45

22q11 deletion syndromes

Back 45

CATCH-22 due to microdeletion at chr 22q11

Cleft palate
Abnormal facies
Thymic aplasia leading to a T-cell deficiency
Cardiac defects
Hypocalcemia secondary to parathyroid aplasia

Due to aberrant development of 3rd and 4th branchial pouches

Front 46

DiGeorge syndrome

Back 46

Microdeletion at 22q11

Malformation of 3rd and 4th branchial (pharyngeal) pouches --> absence of thymus (leads to T-cell deficiency) and parathyroid glands (hypocalcemia).

Babies develop tetany after birth due to severe hypocalcemia caused by lack of PTH!

Also recurrent viral/fungal infections, congenital heart and great vessel defects. Absent thymic shadow on CXR.
Thymic, parathyroid, cardiac defects

Front 47

Velocardiofacial syndrome

Back 47

Microdeletion at 22q11

Palate, facial, and cardiac defects

Front 48

Melanoma vs. Basal squamous

Back 48

Intense intermittent exposure = melanoma

chronic accumulation of sun= basal cell, squamous

Front 49

Nevi bs freckles

Back 49

Freckles are pigmentation of melanocytes. Nevi are from kerotinocytes.

Front 50

Hutchinson's sign

Back 50

Pigmentation of proximal nail fold at the end of a piented band. Dx of melanoma.

Most worrisome is one banded nail in one finger in a white person

Front 51

Getting children to comply

Back 51

Special time. Make positive time with parent. Train parents to reward positive behavior. Often negative behavior is the behavior that becomes that which gets them attention.

Front 52

Not mental retardation

Back 52

Say Intellectual disability instead.

Front 53

Axis I
Axis II
Axis III

which is autism PPD

Back 53

Autism and PPD are axis I

axis II are personality disorders

Front 54

Prevalence of schizophrenia

Back 54

1% in adults

much lower in children

Front 55

When kids have enuresis

Back 55

Not whether it's primary or secondary

Primary means that they were never fully toilet trained

Common up to age 7, 8

higher rate on enuresis with sexual abuse.

Front 56

B-complex deficiencies often cause...

Back 56

...dermatitis, glossitis, diarrhea

Front 57

Vitamin A deficiency

Back 57

Night blindness, dry skin

Front 58

Vitamin A excess

Back 58

Arthralgias, fatigue, headaches, skin changes, sore throat, alopecia. teratogenic (cleft palate, cardiac abnormalities), so a pregnancy test must be done before isotretinoin is prescribed for severe acne.

Front 59

Vitamin B1 deficiency

Back 59

Vitamin B1 = thiamine

Wernicke-Korsakoff syndrome (confusion, opthalmoplegia, ataxia + memory loss, confabulation, personality change)

Beriberi (Ber1Ber1):

Dry beriberi: polyneuritis, symmetrical muscle wasting

Wet beriberi: high-output heart failure (dilated cardiomyopathy), edema.

Front 60

Vitamin B2 deficiency

Back 60

Vitamin B2 = riboflavin
FAD, FMN derived from B2. B2 = 2 ATP)

the two Cs: Cheilosis (inflamm of the lips and corners of the mouth) and Corneal vascularization.

Front 61

Vitamin B3 deficiency

Back 61

Vitamin B3 = niacin
NAD derived from B3. B3 = 3 ATP

Deficiency: glossitis. Severe def leads to pellagra.

Pellagra = the three Ds. Diarrhea, Dermatitis, Dementia

Pellagra can be caused by Hartnup's Disease (dec tryptophan absorption leading to a lack of niacin/B3), malignant carcinoid syndrome (inc tryptophan met), or INH (dec in B6).

Front 62

Vitamin B3 excess

Back 62

Vitamin B3 = niacin

Facial flushing (due to pharmacological doses for treatment of hyperlipidemia)

Front 63

Vitamin B5 deficiency

Back 63

Vitamin B5 = pantothenate
Essential component of CoA and fatty acid synthase.

Dermatitis, enteritis, alopecia, adrenal insufficiency.

Front 64

Vitamin B6 deficiency

Back 64

Vitamin B6 = pyridoxine

Convulsions, hyperirritability, peripheral neuropathy (def inducible by INH and oral contraceptives), sideroblastic anemias.

Front 65

Vitamin B12 deficiency

Back 65

Vitamin B12 = cobalamin

Macrocytic, megaloblastic anemia, hypersegmented PMNs, neurologic sx (parathesias, subacute combined degeneration) due to abnormal myelin. Prolonged def leads to irreversible nervous system damage.

Vitamin B12 def can cause HbA1c to be FALSELY ELEVATED!

Front 66

Folate deficiency

Back 66

Macrocyctic, megaloblastic anemia; no neurologic sx (as opposed to Vitamin B12 def).

Def can be caused by phenytoin, sulfonamides, MTX.

Front 67

Vitamin B7 deficiency

Back 67

Vitamin B7 = biotin

dermatitis, alopecia, enteritis. Caused by antibiotic use or excessive ingestion of raw eggs.

AVIDin in eggs whites AVIDly binds biotin

Front 68

Vitamin C deficiency

Back 68

Vitamin C = ascorbic acid

Scurvy - swollen gums, bruising, anemia, poor wound healing

Front 69

Vitamin D deficiency

Back 69

Rickets in children, osteomalacia in adults, hypocalcemia tetany.

See expansion of the osteoid.

Front 70

Vitamin D excess

Back 70

Hypercalcemia, hypercalciuria, loss of appetite, stupor. Seen in sarcoidosis (due to inc activation of vit D by epitheliod macrophages)

Front 71

Vitamin E deficiency

Back 71

increased fragility of RBCs (leading to hemolytic anemia), muscle weakness, neurodysfunction

Front 72

Vitamin K deficiency

Back 72

Neonatal hemorrhage with inc PT and inc aPTT but normal bleeding time (neonates have sterile intestines and are unable to synthsize vitamin K). Can also occur after prolonged use of broad-spectrum antibiotics.

Necessary for II, VII, IX, X, and proteins C and S.

Front 73

Zinc deficiency

Back 73

Delayed wound healing, hypogonadism, dec adult hair (axillary, facial, pubic), dysgeusia (distortion of the sense of taste), anosmia. May predispose to alcoholic cirrhosis.

Front 74

Ethanol hypoglycemia

Back 74

Ethanol met inc the NADH/NAD+ ratio in the liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty change (hepatocellular steatosis) seeing in chronic alcoholics.

Front 75

Kwashiorikor vs Marasmus

Back 75

Kwashiorikor - protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change due to dec apolipoprotein synthesis). Clinical picture is small child with a swollen belly.

Marasmus - energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema

Front 76

Vitamin E deficiency

Back 76

increased fragility of RBCs (leading to hemolytic anemia), muscle weakness, neurodysfunction

Front 77

Vitamin K deficiency

Back 77

Neonatal hemorrhage with inc PT and inc aPTT but normal bleeding time (neonates have sterile intestines and are unable to synthsize vitamin K). Can also occur after prolonged use of broad-spectrum antibiotics.

Necessary for II, VII, IX, X, and proteins C and S.

Front 78

Zinc deficiency

Back 78

Delayed wound healing, hypogonadism, dec adult hair (axillary, facial, pubic), dysgeusia (distortion of the sense of taste), anosmia. May predispose to alcoholic cirrhosis.

Front 79

Ethanol hypoglycemia

Back 79

Ethanol met inc the NADH/NAD+ ratio in the liver, causing diversion of pyruvate to lactate and OAA to malate, thereby inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty change (hepatocellular steatosis) seeing in chronic alcoholics.

Front 80

Kwashiorikor vs Marasmus

Back 80

Kwashiorikor - protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change due to dec apolipoprotein synthesis). Clinical picture is small child with a swollen belly.

Marasmus - energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema

Front 81

Glycolytic enzyme deficiencies

Back 81

Associated with hemolytic anemia. Inability to maintain activity of NaK ATPase leads to RBC swelling and lysis.

Due to def in pyruvate kinase (PEP --> Pyruvate, 95%), phosphoglucose isomerase (G6P --> F6P, 4%), and others.

Pyruvate kinase def is the second most common cause of hemolytic anemia after G6PD def. PK def is AR and G6PD is XR.

Front 82

Arsenic poisoning

Back 82

Inhibits lipoic acid (part of the pyruvate dehydrogenase complex)

Findings: vomiting, rice water stools, garlic breath.

Front 83

Pyruvate dehydrogenase deficiency

Back 83

Causes backup of substrate (pyruvate and alanine), resulting in lactic acidosis. Can be congenital or acquired (as in alcholics due to B1 deficiency). See neuro defects. Txt: inc intake of ketogenic aa's (lysine, leucine).

This is a cause of congenital lactic acidosis

Front 84

Rotenone, CN-, antimycin A, CO

Back 84

Electron transport inhibitors

Directly inhibit e transport, causing a decreased proton gradient and block of ATP synth.

Stops e flow down the chain. Carriers before the block are reduced, after the block they are oxidized.

Front 85

Oligomycin

Back 85

ATPase inhibitor

Directly inhibit mito ATPase, causing an inc proton gradient. No ATP produced because e transport stops.

Front 86

2,4-DNP, aspirin, thermogenin in brown fat

Back 86

Uncoupling agents

Inc permeability of membrane, causing a dec proton gradient and inc O2 consumption. ATP synthesis stops, but e trans continues. Produces heat

Front 87

Chronic granulomatous disease

Back 87

NADPH oxidase deficiency --> decrease in reactive oxygen species and absent respiratory burst in neutrophils.

(O2 --NADPH/NADP+--> O2 radical --superoxide-dismutase--> H2O2 --myeloperoxidase+Cl--> HOCl)

Increased susceptibility to catalase positive organisms

WBCs of pts with CGD can utilize H2O2 generated by invading Organisms and convert it to ROIs. Pts are at Inc risk for infection by catalase positive species (S. Aureus, aspergillus) because they neutralize their own H2O2, leaving WBCs without ROIs for fighting infections.

Another way to think about it is that CGD pts have less H2O2 and thus catalase positive organisms can easily degrade it.

Labs:
Negative nitroblue tetrazolium dye reduction test.

Front 88

Glucos-6-phosphate dehydrogenase deficiency

Back 88

G6PD converts Glucose-6-phosphate and NADP+ to 6PG (6-phosphogluconolactone) and NADPH.

This renews the store of NADPH that can be used to reduce glutathione:

NADPH + GS-SH --glutathione-reductase--> GSH + NAD+

Then GSH can go on to change H2O2 to H20:

2GSH --glutathione-peroxidase/catalase--> 2 H2O + GS-SG

X-linked recessive disorder, most common human enzyme deficiency. More prevalent among blacks. Increases malarial resistance.

Dec NADPH leads to hemolytic anemia due to poor defense against oxidizing agents.

See Heinz bodies - oxidized hemoglobin within RBCs

See Bite cells - result from the phagocytic removal of Heinz bodies

Front 89

Fructose intolerance

Back 89

Hereditary def of aldolase B. AR. Fructose-1-phosphate accumulates, sequestering lots of phosphate, causing inhibition of glycogenolysis and gluconeogenesis.

Sx:
hypoglycemia (due to dec glucneo)
Jaundice
cirrhosis
vomiting

Tx: dec intake of fructose and sucrose (glucose + fructose).

Front 90

Essential fructosuria

Back 90

A defect in fructokinase (fructose --> fructose-1-P). AR. A benign, asymptomatic condition, since fructose does not enter cells.

Sx: fructose appears in blood and urine.

Disorders of fructose are milder than those of galactose.

Front 91

Essential galactosemia

Back 91

Absence of galactose-1-phosphate uridyltransferase (Galactose-1-P --> glucose-1-P).



AR. Toxic accumulation of galacitol in the lens of the eye.

Sx: failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation.

Tx: exclude galactose and lactose (glucose + galactose) from diet.

Front 92

Galactokinase deficiency

Back 92

No galactokinase (galactose --> galactose-1-P)

Galactitol accumulates if galactose is present in diet. Relatively mild condition. AR

Sx: galactose appears in blood and urine, infantile cataracts. May initially present as failure to thrive or to develop a social smile.

Front 93

Diabetic retinopathy

Back 93

Caused by sorbitol accumulation in the lens secondary to prolonged hyperglycemic states.

The liver, ovaries, and seminal vesicles have two enzymes:

Glucose --aldose-reductase/NADPH--> Sorbitol --sorbitol-dehydrogenase/NADPH--> Fructose

Schwann cells, lens, retina, and kidneys only have one:

Glucose --aldose-reductase/NADPH--> Sorbitol

Sorbitol is osmoically active because it cannot freely cross the plasma membrane like glucose

Front 94

Lactase deficiency

Back 94

Loss of brush-border enzyme. May also follow gastroenteritis.

Sx: bloating, cramps, osmotic diarrhea.

Tx: avoid dairy products or add lactase pills to the diet

Front 95

Hyperammonemia

Back 95

Can be acquired (liver dz) or hereditary (urea cycle def).

Results in excess NH4+, which depletes alpa-ketoglutarate, leading to the inhibiton of the TCA cycle.

Sx: tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision

Tx: limit protein in diet. Benzoate or phenylbutyrate (both of which bind aa's an lead to excretion) may be given to dec ammonia levels

Front 96

Ornithine transcarbamoylase (OTC) deficiency

Back 96

Most common urea cycle disorder. X-linked recessive (other urea cycle enzymes are AR).

Dec ability to exc ammonia. Often presents in first few days of life, but may present with late onset. Excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidie synthesis pathway).

Findings: orotic acid in blood and urine, dec BUN, symptoms of hyperammonemia.

Front 97

Phenylketonuria

Back 97

Due to dec phenylalanine hydroxylase or dec tetrahydrobiopterin (BH4), (phenylalanine --> tyrosine).

Tyrosine becomes essential. Inc phenylalanine leads to excess phenylketones in the urine.

Findings: MR, growth retardation, sz, fair skin, eczema, musty body odor.

Tx: decrease phenylalanine (contained in aspartame, nutrasweet) and increase tyrosine in diet.

Maternal PKU: findings in infant:
microcephaly, MR, growth retardation, congenital heart defects.

AR (1:10,000)

disorder of aromatic aa's (phe, tyr, trp leads to must body odor)

Front 98

Alkaptonuria (ochronosis)

Back 98

Congenital def of homogentisic acid oxidase in the degradative path of tyrosine

AR. Benign disease.

Findings: dark connective tissue, pigmented sclera, urine turns black upon standing, may have debilitating arthralgias

Front 99

Albinism

Back 99

Congenital def of

1. Tyrosinase (inability to synth melanin from tyrosine) - AR.

2. Defective tyrosine transporters (dec amts of tyrosine and therefore melanin)

Can result from a lack of migration of neural crest cells.

Inc risk of skin cancer
Variable inheritancedue to locus heterogenicity (vs. ocular albinism - which is XR)

Front 100

Homocystinuria

Back 100

3 forms (all AR):

1. Cystathionine synthase def (homocysteine --CS/B6--> cystathionine ----> cysteine). Tx: decr Met, incr Cys, incr B12 in diet.

2. Decd affinity of cystathionine synthase for pyridoxal phosphate (part of the B6 complex). Tx: incr vit B6 in diet.

3. Homocysteine methyltransferase def (Methionine <--> Homocysteine)

All forms result in excess homocysteine. Cysteine becomes essential.

Findings: inc homocysteine in urine, MR, osteoporosis tall stature, kyphosis, lens subluxation (downward and inward), and artherosclerosis (stroke and MI).

Front 101

Cystinuria

Back 101

Hereditary defect (AR, common 1:7000) of renal tubular aa transporter for cysteine, ornithine, lysine, and arginine (COLA) in the PCT of the kidneys

Excess cystine in the urine ca leads to the precipitation of cystine kidney stones (cystine staghorn calculi).

Tx: actelazolamide to alkalinize the urine

Note: cystine is made of 2 cysteines connected by a disulfide bond.

Front 102

Maple syrup urine disease

Back 102

Blocked degredation of branched aa's (Ile, Val, Leu) due to decd alpha-ketoacid dehydrogenase.

Causes incr alpha-ketoacids in the blood, esp Leu.

Causes severe CNS defects, MR, and death.

I Love Vermont maple syrup from maple trees (with branches)

Front 103

Von Gierke's disease (type I)

Back 103

Def enzyme:
Glucose-6-phosphatase (Glucose-6-phosphate --> glucose)

Findings: Severe fasting hypoglycemia, inc glycogen in the liver, inc blood lactate, hepatomegaly.

Note: liver can't make glucose, so can't complete the cori cycle, so lactate goes up.

Front 104

Pompe's disease (type II)

Back 104

Def enzyme:
Lysosomal alpha-1,4-glucosidase (acid maltase), (degrades glucose in lysosomes)

Findings:
Cardiomegaly and systemic findings leading to early death, hypotonia

Note: Pompe's trashes the Pump (heart, liver, and muscle)

Front 105

Cori's disease (type III)

Back 105

Def enzyme:
Debranching enzyme (alpha-1,6-glucosidase)

Milder form of type I with normal blood lactate levels

Gluconeogenesis is intact

Front 106

McArdle's disease (type V)

Back 106

Def enzyme:
Skeletal muscle glycogen phosphorylase

Incr glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise.

McArdle's = Muscle

Front 107

Fabry's disease

Back 107

A type of sphingolipidosis (a glycolipid disorder)

XR

Def enzyme:
alpha-galactosidase A

Accumulated substrate:
Ceramide trihexoside

Findings:
Peripheral neuropathy of hands/feet. angiokeratomas, cardiovascular/renal disease

Front 108

Gaucher's disease

Back 108

A type of sphingolipidosis (a glycolipid disorder)

AR

Def enzyme:
Beta-glucocerebrosidase

Accumulated substrate:
Glucocerebroside

Findings:
Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macs that look like crumpled pieces of tissue paper). Spares the brain.

Front 109

Neimann-Pick disease

Back 109

A type of sphingolipidosis (a glycolipid disorder)

AR

Def enzyme:
Sphingomyelinase

Accumulated substrate:
Sphingomyelin

Findings:
Progressive neurodegeneration, heptosplenomegaly, cherry-red spot on macula, foam cells

No man picks (Neimann-Picks) his nose with his sphinger (sphingomyelinase)

Front 110

Tay-Sachs

Back 110

A type of sphingolipidosis (a glycolipid disorder)

AR

Def enzyme:
Hexosaminidase A (because of a frameshift mutation)

Accumulated substrate:
GM2 ganglioside

Findings:
Progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, NO HEPATOSPENOMEGALY (vs. Neimann-Pick)

Front 111

Krabbe's disease

Back 111

A type of sphingolipidosis (a glycolipid disorder)

AR

Def enzyme:
Galactocerebrosidase

Accumulated substrate:
Galactocerebroside

Findings:
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Front 112

Metachromatic leukodystrophy

Back 112

A type of sphingolipidosis (a glycolipid disorder)

AR

Def enzyme:
Arylsulfatase A

Accumulated substrate:
Cerbroside sulfate

Findings:
Central and peripheral demyelination wth ataxia, dementia

Front 113

Hurler's syndrome

Back 113

A type of mucopolysaccharidosis/glycoprotein disorder/inability to break down GAGs

AR

Def enzyme:
Alpha-L-iduronidase

Accumulated substrate:
Heparan sulfate, dermatan sulfate

Findings:
Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Front 114

Hunter's syndrome

Back 114

A type of mucopolysaccharidosis/glycoprotein disorder/inability to break down GAGs

XR

Def enzyme:
Iduronate sulfatase

Accumulated substrate:
Heparan sulfate, dermatan sulfate

Findings:
Mild Hurler's + aggressive behavior, no corneal clouding

Hunting is AGGRESSIVE
Hunters see clearly (no corneal clouding) and aim for theX (XR)

Front 115

Carnitine deficiency

Back 115

Inability to transport long chain FAs into the mito, resulting in toxic accumulation. Causes weakness, hypotonia, and HYPOKETONIC HYPOGLYCEMIA

Front 116

Acyl-CoA dehydrogenase deficiency

Back 116

Inc dicarboxylic acids, dec glucose and ketones.

Front 117

Type I familial dyslipidemia

Back 117

Hyperchylomicronemia

Increased:
Chylomicrons

Elevated blood levels:
TG, cholesterol

Path:
LPL def or altered apo C-II Causes pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no inc risk for artheriosclerosis).

Front 118

Type II familial dyslipidemia

Back 118

Familial hypercholesterolemia

Increased:
LDL

Elevated blood levels:
Cholesterol

Path:
AD, absent or decreased LDL receptors. Causes accelerated artheriosclerosis, tendon (Achilles) xanthomas, and corneal arcus.

Front 119

Type IIb familial dyslipidemia

Back 119

Combined hyperlipidemia

Increased:
LDL, VLDL

Elevated blood levels:
TG, chol,

Path:
Overproduction of VLDL

Front 120

Type III familial dyslipidemia

Back 120

Dysbetalipoproteinemia

Increased
IDL, VLDL

Elevated blood levels
TG, chol,

Path:
altered apo E

Front 121

Type IV familial dyslipidemia

Back 121

Hypertriglyceridemia

Increased:
VLDL

Elevated blood levels:
TG

Path:
Hepatic overproduction of VLDL. Caused pancreatitis.

Front 122

Type V familial dyslipidemia

Back 122

Mixed hypertriglyceridemia

Increased:
VLDL, Chylomicrons

Elevated blood levels:
TG, cholesterol

Front 123

Abetaproteinemia

Back 123

Can't synth lipoproteins because of def of apoB-100 and apoB-48.

AR

Sx appear in first few months of life. Intestinal bx shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons.

Findings: failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindnes

Also: low cholesterol, TGs, and no chylomicrons, no VLDL, no LDL. Dec in fat soluble vitamins.

Can result from a mutation in te gene that encodes the microsomal triglyceride transfer protein (MTP)

Front 124

Craniopharyngioma

Back 124

Benign Rathke's pouch tumor with cholesterol crystals, calcifications.

Front 125

VACTERL

Back 125

Vertebral defects
Anal atresia
Cardiac defects
Tracheo-Esophageal defects
Renal defects
Limb defects (bone and muscle)

Front 126

Failure of the neuropores to fail will cause what abnormal screening labs? in amniotic fluid and maternal serum? In CSF?

Back 126

Causes a persistent connection between amniotic cavity and the spinal canal.

Causes elevated alpha-feta protein in amniotic fluid and maternal serum

See inc AFP and acetylcholinesterase in CSF

Front 127

Spina bifida occulta

Back 127

Failure of bony spinal canal to close, but no structural herniation. Usually seen at the lower vertebral levels. Dura is intact.

Front 128

Meningocele

Back 128

Meninges herniate through spinal cord defect

Front 129

Myelomeningocele

Back 129

Meninges and spinal cord herniate though spinal canal defect.

Front 130

Anencephaly

Back 130

Malformation of anterior end of neural tube; no brain/calvarium, elevated AFP, polyhydraminos (no swallowing center in brain)

Front 131

Holoprosencephaly

Back 131

Dec separation of hemispheres across midline; results in cyclopia; associated with Patau's syndrome, severe fetal alcohol syndrome, and cleft lip/palate

Front 132

Arnold-Chiari Type II

Back 132

Cerebellar tonsillar herniation through foramen magnum with aqueductal stenosis and hydrocephaly. Often presents with syringomyelia, throacolumbar myelomeningocele.

Front 133

Dandy-Walker

Back 133

Large posterior fossa; absent cerebellar vermis wish cystic enlargement of the 4th ventricle. Can lead to hydrocephalus and spina bifida.

Front 134

Syringomyelia

Back 134

Enlargement of the central canal of the spinal cord. Crossing fibers of spinothalamic tract are damaged first. "Cape-like," bilateral loss of pain and temperature sensation in upper extremities with preservation of touch sensation.

Often presents with Arnold-Chiari Type II malformation

Most common at C8-T1

Front 135

Treacher Collins syndrome

Back 135

1st aortic arch neural crest fails to migrate, leading to mandibular hypoplasia, facial abnormalities

Front 136

Tracheo-esophageal fistula: what is the most common type? signs? sx?

Back 136

blind upper eso with lower eso connecting to trachea.

Results in cyanosis, choking and vomiting with feeding, air bubble on CXR, polyhydraminos

Front 137

Congenital pyloric stenosis

Back 137

Hypertrophy of the pylorus leading to obstruction. Palpable "olive" mass in the epigastric region and nonbilious projectile vomiting at about 2 weeks of age. Treatment is surgical incision. Occurs in 1/600 live births, often in 1st born males.

Front 138

Potter's syndrome

Back 138

Bilateral renal agenesis --> oligohydraminos --> limb deformaties, facial deformaties, pulmonary hypoplasia. Caused by malformation of ureteric bud.

Babies who can't "Pee" in utero develop Potter's

Front 139

Bicornuate uterus

Back 139

Results from incomplete fusion of the paramesonephric ducts. Associated with urinary tract abormalities and infertility

Front 140

Hypospadias

Back 140

Abnormal opening of penile urethra on inferior (ventral) side of penis due to failure of urethral folds to close. Fix to prevent UTIs.

Front 141

Epispadias

Back 141

Abnormal opening of penile urethra on superior (dorsal) side of penis due to faulty positioning of genital tubercle.

Epispadias is associated with Exstrophy of the bladder

When you have Epispadias, you hit your Eye when you pEE.

Front 142

Fitz-Hugh-Curtis syndrome

Back 142

pg 152/181

Infection of the liver capsule and "violin string" adhesions between the parietal peritoneum and the liver. These violin strings are ndicative of what past condition?

Hint 142

PID

Front 143

Waterhouse-Friderichsen syndrome

Back 143

pg 152, 291, 516

Adrenal hemorrhage, DIC, hypotension

Acute adrenocortical insufficiency due to adrenal hemorrhage associated with Neisseria meningitidis septicemia, DIC, and endotoxic shock.

Front 144

Typhoid fever

Back 144

fever, diarrhea, headache, rose spots on abdomen. Can remain in gallbladder chronically (S. typhi)

Front 145

Weil's disease

Back 145

pg 154

icterohemorrhagic leptospirosis - severe form of leprospirosis (spirochete) with jaundice and azotemia from liver and kidney dysfunction, fever, hemorrhage, and anemia.

Front 146

Yaws

Back 146

pg 154

Caused by T. pertenue
infection of skin, bone, joints --> healing with keloids --> severe limb deformities

Disease of the tropics, Not an STD, but VRDL positive

Front 147

lymphogranuloma venereum

Back 147

pg 157

caused by chlamydia types L1, L2, L3

causes an acute lymphadenitis - has a positive Frei test

Ulcers, lymphadenopathy, rectal strictures

Front 148

Granuloma inguinale

Back 148

pg 157

aka donovanosis, caused by Calymmatobacterium granulomatis.

Kaplan: caused by klebsiella granulomatis

Front 149

Bruton's agammaglobulinemia

Back 149

X-linked recessive (inc in Boys). Defect in BTK, a tyrosine kinase gene --> blocks B-cell differentiation/maturation

Recurrent bacterial infections after 6 months (bc of decreased maternal IgG) due to opsonization defect.

Normal pro-B
dec maturation
dec number of B cells
dec immunoglobins of all classes

Front 150

Hyper IgM syndrome

Back 150

Defective CD40L on helper T-cells = inability to class switch

Severe pyogenic infections early in life.

Inc IgM
Really dec IgG, IgA, IgE

Front 151

Selective Ig deficiency

Back 151

Defect in isotype switching --> deficiency in specific class of Ig

Sinus and lung infections, milk allergies and diarrhea, Anaphylaxis on exposure to blood products with IgA

IgA def most common. Failure to mature into plasma cells. Decreased sec IgA

Front 152

Common variable immunodeficiency (CVID)

Back 152

Defect in B-cell maturations; many causes

can be acquired in 20s-30s; incr risk of autoimmune disease, lymphoma, sinopulmonary infections.

Normal number of B cells, decreased number of plasma cells and Immunoglobulin.

Front 153

IL-12 receptor deficiency

Back 153

(IL-12 is secreted by B cells and macrophages. Activates NK and Th1 cells)

Deficiency --> Decreased Th1 response.

Disseminated mycobacterial infections.

Decreased IFN-γ

Front 154

Hyper-IgE syndrome (Job's syndrome)

Back 154

Th cells fail to produce IFN-γ --> inability of neutrophils to respnd to chemotactic stimuli.

FATED:
coarse Facies (non-inflamed)
cold (non-inflammed) staphylococcal Abscesses
retained primary Teeth
increased IgE
Dermatologic problems (eczema)

Increased IgE

Front 155

Chronic mucocutaneous candidiasis

Back 155

T-cell dysfunction

Candida albicans
infections of skin and mucous membranes.

Front 156

Severe combined immunodeficiency (SCID)

Back 156

Several types: defective IL-2 receptor (most common, X-linked), adenosine deaminase deficiency, failure to synthesize MHC II antigens

Recurrent viral, bacterial, fungal, and protozoal infections due to both B-cell and T-cell deficiency. txt: bone marrow transplant (no allograft rejection).

Labs:
Decreased IL-2R --> decreased T-cell activation

Increased adenine --> toxic to B and T cells

(decreased dNTPs, decreased DNA synthesis)

Front 157

Ataxia-telangiectasia

Back 157

Defect in DNA repair enzymes

Triad:
Cerebellar defects (ataxia)
Spider angiomas (telangiectasia)
IgA deficiency

Labs:
IgA deficiency

Front 158

Wiskott-Aldrich syndrome

Back 158

X-linked recessive defect. Progressive deletion of B and T cells.

Triad (TIE)
Thrombocytopenic purpura,
Infections
Eczema

Labs:
Decreased IgM
Increased IgE and IgA

Platelets are small with a dec half-life. They are deficient in sialaphorin (CD43)

Children often present with epistaxis

Increased risk of non-Hodgkin's lymphoma.

Front 159

Leukocyte adhesion deficiency (type 1)

Back 159

Defect in LFA-1 integrin (CD18) protein on phagocytes

Recurrent bacterial infections, absent pus formation, delayed separation of umbilicus.

Labs:
Neutrophilia

Front 160

Sjogren's syndrome

Back 160

Dry mouth, dry eyes because immune cells attack exocrine glands that produce tears and saliva. Assoc. with RA, Rh+; increased risk of lymphoma. Other auto-abs include anti-SSa, anti-SS-B

Front 161

Libman-Sacks endocarditis

Back 161

pg 271

Verrucous (wartlike), sterile vegetations occur on both sides of the valve. Most often benign; can be associated with mitral regurgitation and, less commonly, mitral stenosis. LSE is the most common heart manifestation of SLE. SLE causes LSE.

Front 162

marantic/thrombotic endocarditis

Back 162

Non bacterial endocarditis

Secondary to malignancy or hypercoagulable state.

Front 163

Culture-negative endocarditis

Back 163

HACEK organisms

Haemophilus influenza
Aggregatibacter
Cardiobacterium hominus
Eikenella corrodens
Kingella

Front 164

Signs/Symptoms of bacterial endocarditis

Back 164

FROM JANE

Fever
Roth's spots (round white spots on retina surrounded by hemorrhage)
Osler's nodes (tender raised lesions on finger or toe pads)
Murmur
Janeway lesions
Anemia
Nail-bed hemorrhage
Emboli

Front 165

Bacterial endocarditis vs. IDVU assoc endocarditis: structures involved

Back 165

Bacterial endocarditis: mitral valve.

IVDU endocarditis: tricuspid value.

Front 166

Rheumatic heart disease

Back 166

page 272

mitral > aortic >> tricuspid (high-pressure valves affected most)

Early lesion: mitral valve prolapse

Late lesion: mitral stenosis

See Aschoff bodies (granuloma with giant cells) and Anitschkow's cells (activated histiocytes), elevated ASO titers.

FEVERSS

Fever
Erythema marginatum (pink rings on the trunk and the inner surface of the limbs)
Valvular damage (vegetation and fibrosis)
ESR up
Red-hot joints (migratory polyarthritis)
Subcutaneous nodules (Aschoff bodies)
St. Vitus's dance (chorea)

Front 167

Cardiac tamponade

Back 167

pg 272

Compression of heart by fluid (e.g. blood, effusions) in pericardium, leading to dec CO.

Equilibration of diatolic pressures in all 4 chambers.

Findings: hypotension, inc venous pressure (JVD), distant heart sounds, inc HR, pulsus paradoxus.

Front 168

Pulsus paradoxus (Kussmaul's pulse)

Back 168

exaggerated dec in amplitude of pulse during inspiration. Seen in severe cardiac tamponade, asthma, obstructive sleep apnea, pericarditis, and croup.

Front 169

Pericarditis

Back 169

pg 272

Serous: caused by SLE, RA, viral infection, uremia

Fibrinous: caused by uremia, MI (Dressler's syndrome), rheumatic fever.

Hemorrhagic: TB, malignancy (e.g. melanoma)

Findings: pericardial pain, friction rub, pulsus paradoxus, distant heart sounds. ECG changes with ST-elevation in multiple leads.

Can resolve without scarring or lead to chronic adhesive or chronic constrictive pericardits.

Front 170

Syphilitic heart disease

Back 170

pg 272

Tertiary syphilis disrupts the vasa vasorum of the aorta with consequent dilation of the aorta and valve ring.

May see calcification of the aortic root and ascending aortic arch. Leads to "tree bark" appearance of the aorta.

Can result in aneurysm of the ascending aorta or aortic arch and aortic valve incompetence.

Front 171

Cardiac tumors

Back 171

Most common primary tumor in adults: myxoma (90% in atria, usually left), "ball-valve" appearance.

Most common primary tumor in children: rhabdomyomas (associated with tuberous sclerosis)

Metastases are the MOST common overall (melanoma, lymphoma)

Front 172

Kussmaul's sign

Back 172

Inc in jugular venous pressure on inspiration.

Front 173

Telangiectasia

Back 173

pg 273

AVM in small vessels. See dilated vessels on skin and mucous membranes.

See in hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

Front 174

Wegener's granulomatosis

Back 174

pg 274.

1. Necrotizing vasculitis
2. Necrotizing granulomas in the lung and upper airway.
3. Necrotizing glomerulonephritis

Affects small vessels

Sx: hemoptysis, hematuria, perforation of the nasal septum, chronic sinusitis, otisi media, mastoiditis, cough, dyspnea.

Findings: c-ANCA, large nodular densities on CXR; hematuria and RBC casts.

Tx: cyclophosphamide and corticosteroids.

Front 175

Microscopic polyangitis

Back 175

pg 274

Like Wegener's but lacks granulomas

Findings: p-ANCA

affect small vessels

Front 176

Primary pauci-immune cresenteric glomerulonephritis

Back 176

pg 274

Vasculitis limited to the kidney.

Pauci-immune = paucity of antibodies

affects small vessels

Front 177

Churg-Strauss syndrome

Back 177

Granulomatous vasculitis with eosinophilia. Most often presents with asthma, sinusitis, skin lesions, and peripheral neuorpathy (e.g. wrist/foot drop); can also involve the heart, GI and kidneys.

Findings: p-ANCA

Affects small vessels

Front 178

Sturge-Weber syndrome

Back 178

Congenital vascular disorder that affects capillary sized vessels. Manifests with port-wine stain (nevus flammeus) on face, ipsilateral leptomeningeal angiomatosis (intracerebral AVM), seizures, and early-onset glaucoma

Affects small vessels

Front 179

Henoch-Schonlein purpura

Back 179

Most common form of childhood systemic vasculitis. Skin rash on buttocks and legs (palpable purpura), arthralgia, intestinal hemorrhage, abdominal pain, and melena. Follows URIs. IgA immune complexes. Association with IgA nephropathy.

1. Skin
2. Joints
3. GI

See multiple lesions of the same age.

Front 180

Buerger's disease

Back 180

pg 275

Also known as thromboangiits obliterans; idiopathic, segmental, thrombosing vasculitis of small and medium peripheral arteries and veins. Seen in heavy smokers.

Sx: intermittent claudication, superficial nodular phlebitis, cold sensitivity (Raynaud's phenomenon), severe pain in affected part. May lead to gangrene and autoamputation of digits.

Tx: smoking cessation

Affects small and medium vessels

Note: medium-vessel diseases cause thrombosis/infarction of arteries

Front 181

Kawasaki disease

Back 181

pg 275

Acute, self-limiting necrotizing vasculitis in infants/children. Asians

Sx: fever, conjuntivitis, changes in lip/oral mucosa ("strawberry tongue"), lymphadenitis, desquamative skin rash. May develop coronary aneurysms.

Tx: IV immunoglobulin, aspirin

Affects small and medium vessels

Front 182

Polyarteritis nodosa

Back 182

pg 275

Immune-complex mediated transmural vasculitis with fibrinoid necrosis.

Sx: fever, wt loss, malaise, abdominal pain, melena, HA, myalgia, HTN, neurologic dysfunction, cutaneous eruptions.

Findings: HBV seropostivity in 30% of pts. Multiple aneurysms and constrictions on arteriogram.

Tx: corticosteroids, cyclophosphamide.

Affects small and medium vessels

Typically involves renal and visceral vessels, not pulmonary arteries

See lesions of DIFFERENT ages.

Front 183

Takayasu's arteritis

Back 183

pg 275

"pulseless disease"

Granulomatous thickening of the aortic arch and/or proximal great vessels. ESR up. Primarily affects Asian females < 40 years of age.

Sx: Fever, night sweats, myalgia, skin nodules, ocular disturbances, weak pulses in upper extremities.

FAN MY SKIN On Wednesday

Front 184

Temporal arteritis (giant cell arteritis)

Back 184

Most common vasculitis affecting medium and larger arteries, usually branches of the carotid artery. Focal, granulomatous inflammation. Affects elderly females.

Sx: unitlateral HA, jaw claudication, impaired vision (occulusion of ophthalmic artery that may lead to irreversible blindness).

Findings: Associated with ESR up. Half of pts have systemic invlovement and polymyalgia rheumatica.

Tx: high-dose steroids

Front 185

Strawberry hemangioma

Back 185

Benign capillary hemangioma of infancy. Initially grows with child; then spontaneously regresses

Front 186

Cherry hemangioma

Back 186

Benign capillary hemangioma of the elderly. Does not regress. Freq inc w age.

Front 187

Pyogenic hemangioma

Back 187

Polypoid capillary hemangioma that can ulcerate and bleed. Associated with trauma and pregnancy.

Front 188

Cystic hygroma

Back 188

cavernous lymphangioma of the neck. Associated with Turner's syndrome.

Front 189

Glomus tumor

Back 189

Benign, painful, red-blue tumor under fingernails. Arises from modified smooth muscle cells of glomus body.

Front 190

Bacillary angiomatosis

Back 190

Benign capillary skin papules found in AIDS patients. Caused by Bartonella henselae infections. Frequently mistaken for Kaposi's sarcoma.

Front 191

Angiosarcoma

Back 191

Highly lethal malignancy of the liver. Associated with vinyl chloride, arsenic, and ThO2 (Thorotrast) exposure.

Front 192

Lymphangiosarcoma of the breast

Back 192

Lymphatic malignancy associated with perisitent lymphedema (e.g. post-radical mastectomy)

Front 193

Kaposi's sarcoma

Back 193

Endothelial malignancy of the skin associated with HHV-8 and HIV. Frequently mistaken for bacillary angiomatosis

Front 194

Cinchonism

Back 194

Headache, tinnitus; thrombocytopenia; torsades de pointes due to inc QT interval).

Front 195

Hypertrichosis

Back 195

pg 276

Abnormal hair growth. Can be caused by minoxidil.

Front 196

Conn's syndrome

Back 196

Primary: Caused by an aldosterone-secreting tumor, resulting in hypertension, hypokalemia, metabolic alkalosis, and LOW plasma renin. May be unilateral or bilateral

Secondary: Kidney perception of a low intravascular volume results in an overactive renin-angiotensin system. Due to renal artery stenosis, chronic renal failure, CHF, cirrhosis, or nephrotic syndrome. Associated with HIGH plasma renin levels.

Tx: spironolactone (aldosterone antagonist)

Front 197

Addison's disease

Back 197

Chronic adrenal insufficiency due to adrenal atrophy or destruction by disease (e.g. autoimmune, TB, metastasis).

Primary def of aldosterone and cortisol lead to:
- Hypotension (hyponatremic volume contraction)
- Skin hyperpigmentation (due to MSH, a by-product of inc ACTH production from POMC).

Characterized by Adrenal Atrophy and Absence of hormone production; involves All 3 cortical divisions.

Distinguish from secondary adrenal insufficiency (dec pituitary ACTH prod), which has no skin hyperpigmentation and no hyperkalemia.

Front 198

17α-hydroxylase deficiency

Back 198

dec sex hormones, dec cortisol, inc mineralocorticoids. Sx = HTN, hypokalemia. XY: dec DHT --> pseudohermaphroditism (externally phentypic female, no internal reproductive structures due to MIF). XX: externally phenotypic female, with normal internal sex organs, but lacking scondary secual characteristics ("sexual infantilism")

Front 199

21-hydroxylase deficiency

Back 199

Most common form. Dec cortisol (increased ACTH), dec mineralocorticoids, inc sex hormones. Sx = masculinization, female pseudohermaphroditism, HYPOtension, hyperkalemia, incr plasma renin activity, and volume depletion. salt wasting can lead to hypovolemic shock in the newborn.

Front 200

11β-hydroxylase deficiency

Back 200

Dec cortisol, dec aldosterone and corticosterone, inc sex hormones. Sx = masculinization, HYPERtension (like aldosterone, 11-deoxycorticosterone is a mineralocorticoid and is secreted in excess).

Front 201

Hashimoto's Thyroiditis

Back 201

The most common cause of hypoTH; ai. Slow course; moderately enlarged, non-tender thryoid. Lymphocytic infiltrate with germinal centers. Antimicrosomal and antithryoglobulin antibodies. Associated with HLA-DR5 and Hurthle cells on histology

May be hyperthyroid early in course!

Front 202

Cretinism

Back 202

Due to severe hypoTH. Endemic cretinism occurs wherever endemic goiter is prevalent (lack of dietary iodine); sporadic cretinism is caused by defect in T4 formation or developmental failure in thyroid formation.

Findings: pot-bellied, pale, puffy-faced child with protruding umbilicus and protuberant tongue.

Front 203

Subacute thyroiditis (de Quervain's)

Back 203

Self-limited hypothryoidism often following a flulike illness. Elevated ESR, jaw pain, early inflammation, and very tender thyroid gland. Histology shows granulomatous inflammation.

May be hyperthyroid early in course.

Lymphocytic subacute thyroiditis is painless.

Front 204

Riedel's thyroiditis

Back 204

Thyroid replaced by fibrous tissue (hypothyroid). Presents with fixed, hard (rock-like), and painless goiter.

Front 205

Grave's disease

Back 205

An ai hyperTH with thyroid stimulating/TSH receptor abs. Opthalmopathy (proptosis, EOM swelling), pretibial myxedema, diffuse goiter. Often presents during stress (e.g. childbirth)

Stress-induced catecholamine surge leading to death by arrhythmia. Seen as a serious complication of Grave's and other hyperTH disorders.

Graves' is a type II HSR (non cytotoxic)

Front 206

Toxic multinodular goiter

Back 206

Focal patches of hyperfunctioning follicular cells workign independently of TSH due to mutation in TSH receptor. Inc release of T3 and T4. Nodules are not malignant.

Jod-Basedow phenomenon: thyrotoxicosis if a patient with iodine deficiency is made iodine replete.

Front 207

Achalasia: assoc with what type of cancer?

Back 207

Esophageal carcinoma

Front 208

Esophageal varices vs. Mallory-Weiss syndrome

Back 208

Esophageal varices = Painless bleeding of submucosal veins in lower 1/3 of esophagus.

MW syn: Painful mucosal lacerations at the GE junction due to severe vomiting. Leads to hematemesis. Usually found in alcoholics and bulimics.

Front 209

Boerhaave syndrome

Back 209

Transmural esophageal rupture due to violent retching "Been-Heaving syndrome"

Front 210

Plummer-Vinson syndrome

Back 210

Dysphagia (due to esophageal webs)
Glossitis
Iron deficiency anemia

Front 211

Barrett's esophagus

Back 211

BARR

Becomes Adenocarcinoma, Results from Reflux

Front 212

Esophageal cancer

Back 212

Risk factors:
Alcohol/Achalasia
Barrett's esophagus
Cigarettes
Diverticuli (Zenker's diverticulum)
Esophageal web (Plummer-Vinson)/Esophagitis
Familial

Worldwide squamous cell is most common.

In US squamous < adenocarcinoma

Squamous cell = upper and middle 1/3

Adenocarcinoma = lower 1/3

Front 213

Celiac sprue

Back 213

Mostly proximal small bowel is affected.

See abs to gliadin and tissue transaminase. Blunting of villi and lymphocytes in the lamina propria. Dec mucosal absorption that primarily affects the jejunum (?)

Associated with dermatitis herpetiformis.

Moderately inc risk of malignancy (e.g. T-cell lymphoma)

Front 214

Tropical sprue: what portion of the bowel is affected?

Back 214

Can involve the entire small bowel

Front 215

Whipple's Disease

Back 215

Infection with Tropheryma whippelii (gram pos); PAS-positive macrophages in intestinal lamina propria, mesenteric nodes. Arthralgias, cardiac and neurologic sx are common. Most often occurs in older men.

Front 216

Abetalipoproteinemia

Back 216

Dec synth of apo B --> inability to generate chylomicrons --> dec sec of cholesterol and VLDL into bloodstream --> fat accumulation in enterocytes. Presents in early childhood with malabsorption and neurologic manifestations.

Front 217

Curling's ulcer

Back 217

A type of acute gastritis

burns --> dec plasma volume --> sloughing of gastric mucosa

"Burned by the curling iron"

Front 218

Cushing's ulcer

Back 218

A type of acute gastritis

brain injury --> inc vagal stimulation --> inc ACh --> inc H+ production

Always CUSHion the brain

Front 219

Type A chronic gastritis

Back 219

Autoimmune disorder characterized by autoantibodies to parietal cells, pernicious anemia, and achlorhydria. Assoc w other ai disorders.

AB pairing: pernicious Anemia affects gastric Body

Front 220

Type B chronic gastritis

Back 220

Most common type. Caused by H. pylori infection. Inc risk of MALT lymphoma.

H. pylori Bacterium affects Antrum.

Front 221

Menetrier's disease

Back 221

Gastric hypertrophy with protein loss, parietal cell atrophy, and inc mucous cells. Precancerous. Rugae of stomach are so hypertrophied that they look like brain gyri.

Front 222

Stomach cancer

Back 222

Almost always adenocarcinoma. Early aggressive local spread and node/liver mets.

Assoc w:
- Dietary nitrosamines (smoked foods)
- Achlorhydria
- Chronic gastritis
- Type A blood!

See:
- Signet ring cells
- Acanthosis nigricans
- Involvement of Virchow's node (left supraclavicular) from mets.

Called "linitis plastica" when diffusely infiltrative.

Front 223

Krukenberg's tumor

Back 223

GI malignancy (stomach) that metastasizes to the ovaries, causing a mucin-secreting signet cell adenocarcinoma.

Front 224

Sister Mary Joseph's nodules

Back 224

Subcutaneous periumbilical metastases (from stomach?)

Front 225

Gastric ulcers

Back 225

Pain can be Greater with meals --> wt loss. Often occurs in older pts.

H. pylori infection in 70%; chronic NSAID use also implicated. Due to dec mucosal protection against gastric acid.

Front 226

Duodenal ulcer

Back 226

pain Decreases with meals --> weight gain. Almost 100% have H. pylori infection.

Due to inc gastric acid sec (e.g. Zollinger-Ellison syndrome) or dec mucosal protection.

Hypertrophy of Brunner's glands.

Tend to have clean, "punched out" margins unlike the raised/irregular margins of carcinoma. Potential complications include bleeding. penetration into pancreas, perforation, and obstruction (not intrinsically precancerous).

Front 227

Crohn's disease

Back 227

Possible etiology:
Disordered response to intestinal bacteria

Location:
Any portion of the GI tract, usually the terminal ileum and colon. Skip lesions, rectal sparing

Gross morphology:
Transmural inflammation. Cobblestone mucosa, creeping fat, bowel wall thickening ("string sign" on barium swallow x-ray), linear ulcers, fissures, fistulas.

Microscopic morphology:
Noncaseating granulomas and lymphoid aggregates

Complications:
Strictures, fistulas, perianal disease, malabsorption, nutritional depletion.

Intestinal manifestation:
Diarrhea that may or may not be bloody

Extraintestinal manifestations:
Migratory polyarthritis, erythema nodosum, andylosing spondylitis, uveitis, immunologic disorders.

Treatment:
Corticosteroids, infliximab

Think of a fat granny and an old crone skipping down a cobblestone road away from the wreck (RECtum).

Front 228

Ulcerative colitis

Back 228

Possible etiology:
Autoimmune

Location
Colitis = colon inflammation. Continuous colonic lesions, always with rectal involvement.

Gross morphology:
Mucosal and submucosal inflammation only. Friable mucosal pseudopolyps with freely hanging mesentary. Loss of haustra --> "lead pipe" appearance on imaging.

Microscopic morphology:
Crypt abscesses and ulcers, bleeding, no granulomas

Complications:
Malnutrition, toxic megacolon, colorectal carcinoma

Intestinal manifestations:
Bloody diarrhea

Extraintestinal manifestations:
Pyoderma gangrenosum, primary sclerosing cholangitis.

Treatment:
ASA preparations (sulfasalazine), infliximab, colectomy.

Front 229

IBS

Back 229

Recurrent abdominal pain assoc w > or = to 2 of the following:

1. Pain improves with defecation
2. Change in stool frequency
3. Change in appearance of stool

No structural abnormalities. May present with diarrhea, constipation, or alternating. Pathophysiology is multifaceted. Treat sx.

Front 230

Diverticulosis

Back 230

Many diverticula. Common (~50% of people > 60). Caused by inc intraluminal pressure and focal weakness in colonic wall. Assoc w low-fiber diets. Most often in sigmoid colon.

Often assymptomatic or assoc w vague discomfort and/or painless rectal bleeding.

Front 231

Diverticulitis

Back 231

Inflammation of diverticula classically causing LLQ pain, fever, leukocytosis. May perforate --> peritonitis, abscess formation, or bowel stenosis. Give ABX.

May cause bright red rectal bleeding. May also cause colovesical fistula (fistula with bladder) --> pneumaturia

Sometimes called "left-sided appendicitis" due to the clinical presentation.

Front 232

Zenker's diverticulum

Back 232

False diverticulum (only mucosa and submucosa outpouch. Occur esp where vasa recta perforate muscularis externa). Herniation of mucosal tissue at junction of pharynx and esophagus.

Presenting sx: halitosis (due to trapped food particles), dysphagia, obstruction.

Front 233

Meckel's diverticulum

Back 233

Persistence of the vitelline duct or yolk stalk. May contain ectopic acid-sec gastric mucosa and/or pancreatic tissue.

Most common congenital anomaly of the GI tract.

Can cause bleeding, intussusception, volvulus, or obstruction near the terminal ileum. Contrast with omphalomesenteric cyst = cystic dilation of the vitelline duct

The five 2's:
2 inches long
2 feet from the ileocecal valve
2% of population
Commonly presents in first 2 years of life
May have 2 types of epithelia (gastric/pancreatic)

Front 234

Intussusception: can be caused by what virus?

Back 234

Adenovirus

Front 235

Duodenal atresia

Back 235

Causes early bilious vomiting with proximal stomach distention ("double bubble") due to failure of recanalization of small bowel. Assoc w down syndrome.

Front 236

Meconum ileus

Back 236

In cystic fibrosis, meconium plug obstructs intestine, preventing stool passage at birth.

Front 237

Angiodysplasia

Back 237

Tortuous dialtion of vessels --> bleeding. Most often found in cecum, terminal ileum, and ascending colon. More common in older patients. Confirmed by angiography.

Front 238

Adenomatous polyps

Back 238

Precancerous (colorectal cancer). malignant risk assoc w inc size, villous histology, inc epithelial dysplasia.

The more villous the polyp, the more likely it is to be malignant.

Front 239

Juvenile polyposis syndrome

Back 239

Multiple juvenile polyps in GI tract, inc risk of adenocarcinoma.

Front 240

Peutz-Jeghers

Back 240

AD syndrome featuring multiple nonmalignant hamartomas throughout the GI tract,along with hyperpigmented mouth, lips, hands, genitalia. Associated with inc risk of CRC and other visceral malignancies

Front 241

Gardner's syndrome

Back 241

FAP + osseous and soft tissue tumors, retinal hyperplasia. (osteoma)

Front 242

Turcot's syndrome

Back 242

FAP + malignant CNS tumor. TURcot = TURban

Front 243

Carcinoid tumor

Back 243

Tumor of endocrine cells. Comprise 50% of small bowel tumors. Most common site is in small intestine. "Dense core bodies" seen on EM. Often produces 5-HT, which can lead to carcinoid syndrome.

Classic sx: wheezing, right-sided heart murmurs, diarrhea, flushing. Can cause RHF

If tumor is confined to GI system, no carcinoid syndrome is observed, since liver metabolizes 5-HT. If tumor or mets (usually to liver) are outside of the GI system, carcinoid syndrome is observed. Thus tumor location determines whether or not the syndrome appears.

Front 244

Reye's syndrome

Back 244

Rare, often fatal childhood hepatoencephalopathy.

Findings: mitochondrial abnormalities, fatty liver (microvesicular fatty change), hypoglycemia, coma. Associated with viral infection (especially VZV and influenza B) that has been treated with salicylates. (See without salicylate txt as well, though).

Mechanism: aspirin metabolites dec beta-oxidation by reversible inhibition of mitochondrial enzyme. Aspirin is not recommended for children (use acetaminophen with caution)

See enlarged, distorted mitochondria in many tissue. See brain edema.

Front 245

Hepatocellular carcinoma can be caused by what toxin?

Back 245

Aflatoxin (peanuts)

Front 246

Budd-Chiari syndrome

Back 246

Occlusion of IVC or hepatic veins with centrilobular congestion and necrosis, leading to congestive liver disease (hepatomegaly, ascities, abdominal pain, and eventual liver failure). May develop varices and have visible abdominal and back veins. ABSCENCE of JVD. Associated with polycthemia vera, pregnancy, and HCC.

Front 247

α1-antitrypsin deficiency

Back 247

Misfolded gene product protein accumulates in hepatocellular ER. Dec elastic tissue in lungs --> panacinar emphysema. PAS-positive globules in liver. Codominant trait

Front 248

Physiologic neonatal jaundice

Back 248

At birth, immature UDP-glucuronul transferase --> unconjugates hyperbilirubinemia --> jaundice/kernicterus.

Treatment: phototherapy (converts UCB to water-soluble form)

Front 249

Gilbert's syndrome

Back 249

Mildly dec UDP-glucuronyl transferase (30% of normal) or dec bilirubin uptake. Asymptomatic. Elevated unconjugated bilirubin without overt hemolysis. Assoc w stress.

Front 250

Crigler-Najjar syndrome, Type 1

Back 250

Absent UDP-glucuronyl transferase. Presents early in life; pts die within a few years.

Findings: jaundice, kernicterus (bilirubin deposition in brain), inc unconjugated bilirubin

Treatment: plasmaphoresis and phototherapy.

Front 251

Crigler-Najjar syndrome, Type 2

Back 251

Less severe deficiency of UDP-glucuronyl transferase.

Responds to PHENOBARBITAL, which inc liver enzyme synthesis

Front 252

Dubin-Johnson syndrome

Back 252

Conjugated hyperbilirubinemia due to defective liver excretion (defective cMOAT). Grossly black liver. Benign.

Front 253

Rotor's syndrome

Back 253

Milder form of conj hyperbili that does not turn the liver black.

Front 254

Wilson's disease

Back 254

Inadequate hepatic copper excretion and failure of copper to enter circulation as ceruloplasmin. Leads to copper accumulation, esp in liver, brain, cornea, kidneys, and joints.

Characterized by:
Asterixis
Basal ganglia degeneration (parkinsonian sx)
Ceruloplasmin low, Cirrhosis, Corneal deposits (Kayser-Fleischer rings), Copper accumulation, Carcinoma (HCC), Choreiform movements
Dementia
Hemolytic anemia

Treat with PENICILLAMINE

AR inheritance.

Front 255

Hemochromatosis

Back 255

Classic triad:
1. Cirrhosis
2. Diabetes mellitus
3. Skin pigmentation ("Bronze" diabetes)

Results in CHF and inc risk of HCC. Disease may be primary (AR) or secondary to chronic transfusion therapy (e.g. β-thalassemia major). Inc ferritin, inc iron, dec TIBC --> inc transferrin staturation

Hemochromatosis Can Cause Deposits

txt: repeated phlebotomy, deferoxamine.

Assoc w HLA-A3

Hemosiderin can be stained with prussian blue.

Front 256

Secondary Biliary Cirrhosis

Back 256

Pathophys:
Extrahepatic biliary obstruction (gallstone, biliary stricture, chronic pancreatitis, carcinoma of the pancreatic head) --> inc pressure in the the intrahepatic ducts --> injury/fibrosis and bile stasis

Presentation:
Pruritus, jaundice, dark urine, light stools, hepatosplenomegaly.

Labs: inc conjugated bilirubin, inc cholesterol, inc alkaline phosphatase

Complicated by ascending cholangitis

Front 257

Primary Biliary Cirrhosis

Back 257

Ai reaction --> lymphocytic infiltrate + granulomas. Inc serum mitochondrial abs.

Presentation:
Pruritus, jaundice, dark urine, light stools, hepatosplenomegaly.

Labs: inc conjugated bilirubin, inc cholesterol, inc alkaline phosphatase

Additional info:
INC mito abs. Assoc w other ai conditions (e.g. CREST, RA, celiac disease)

Front 258

Primary Sclerosing Cholangitis

Back 258

Unknown cause of concentric "onion skin" bile duct fibrosis --> alternating strictures and dilation with "beading" of intra- and extrahepatic bile ducts on ERCP,

Presentation:
Pruritus, jaundice, dark urine, light stools, hepatosplenomegaly.

Labs: inc conjugated bilirubin, inc cholesterol, inc alkaline phosphatase

Additional info:

Hypergammaglobulinemia (IgM). Assoc w ULCERATIVE COLITIS. Can lead to secondary biliary cirrhosis.

Front 259

Cholecystitis

Back 259

Inflammation of the gallbladder. Usually from gallstones; rarely ischemia or infectious (CMV). Inc alkaline phosphatase if bile duct becomes involved (e.g. ascending cholangitis)

Front 260

McCune-Albright Syndrome

Back 260

a form of polyostotis fibrous dysplasia characterized by multiple unilateral bone lesions associated with endocrine abnormalities (precocious puberty) and unilateral pigmented skin lesions (cafe-au-lait spots/"coast of Maine" spots)

The bony defects are unmineralized, see whorls of connective tissue.

Front 261

Osteoma

Back 261

Assoc w Gardner's syndrome (FAP). New piece of bone grows on another piece of bone, often in the skull.

Front 262

Osteoid osteoma vs. osteoblastoma

Back 262

Osteoid osteoma is usually < 2 cm, pain worse at night and responds to NSAIDs

Osteoblastoma is > 2 cm, pain is dull & achy and often involves the spine. Does not respond to NSAIDs.

Front 263

Giant cell tumor (osteoclastoma)

Back 263

Occurs most commonly at epiphyseal end of long bones. 20-40 y.o. Locally aggressive benign tumor often around the distal femur, proximal tibial region (knee). Characteristic "double bubble" or "soap bubble" appearance on x-ray. Spindle-shaped cells with multinucleated giant cells.

Front 264

Osteochondroma

Back 264

Most common benign bone tumor. Mature bone with cartilaginous cap. Usually in men < 25 y.o. Commonly originates from the long metaphysis. Malignant transformation to chondrosarcoma is rare.

Front 265

Enchondroma

Back 265

Benign cartilaginous neoplasm found in intramedullary bone. Usually distal extremities (vs. chondrosarcoma). Ollier's disease = tons of enchondromas (esp in hands).

Front 266

Ollier's disease

Back 266

Tons of enchondromas, esp in hands.

Front 267

Osteosarcoma

Back 267

2nd most common primary malignant tumor of bone (after multiple myeloma). Peak incidence in men around 10-20 y.o. Commonly found in the metaphysis of long bone, often around the distal femur, proximal tibila region (knee). Predisposing factors include Paget's disease of bone, bone infarcts, radiation, and familial retinoblastoma. Codman's triangle or sunburst pattern (from elevation of periosteum) on x-ray. Poor prognosis. Seen in flat bones of elderly.

Front 268

Ewing's sarcoma

Back 268

Anaplastic small blue cell malignant tumor. Most common in boys < 15. Extremely aggressive with early mets, but responsive to chemo. Characteristic "onion-skin" appearance in bone ("going out for eWINGS and ONION rings") Commonly appears in diaphysis of long bones, pelvis, sacpula, and ribs. 11;22 translocation. 11 + 22 = 33 Patrick EWING's jersey number.

Front 269

Chondrosarcoma

Back 269

Malignant cartilaginous tumor. Most common in men aged 30-60. Usually located in the pelvis, spine, scapula, humerus, tibia, or femur. May be of primary origin or from osteochondroma. Expansile glistening mass within the medullary cavity.

Front 270

Osteitis fibrosa cystica

Back 270

Caused by hyperPTH. Characterized by "brown tumors" (cystic spaces lined by osteoclasts, filled with fibrous stroma and sometimes blood).

Note that hyperPTH is often caused by kidney failure

Because PTH is up --> high Ca, low phos, high ALP.

Front 271

Paget's disease

Back 271

Abnormal bone architecture caused by increase in both OBL and OCL activity. Possible viral in origin (paramyxovirus is suspected). Serum calcium, phosphorus, and PTH levels are normal. ALP is INCREASED. Mosaic bone pattern; long bone chalk-stick fractures. Inc blood flow from inc arteriovenous shunts may cause high-output failure. Can lead to osteosarcoma.

HAT SIZE is INC!
HEARING LOSS due to narrowing of cranial foramina!

Lytic phase = "osteoporosis circumscripta"

Elevated urinary hydroxyproline, uric acid, citrate, N-telopeptide

See "cotton-wool" appearance of skull on x-ray
"ivory vertebrae" of inc density
Goal of txt is normalization of ALP
See an inc in bone mass, but the bone is structurally unsound.

> 40 y.o. M:F 3:2
Caucasians
pelvis affected in 75%

Front 272

Sicca syndrome

Back 272

Dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, reflux esophagitis. No arthritis.

Front 273

Ankylosing Spondylitis

Back 273

Arthritis without rheumatoid factor (no anti-IgG antibody). Strong assoc w HLA-B27. Occurs more often in males.

Chronic inflammatory disease of spine and sacroiliac joints --> ankylosis (stiff spine due to fusion of joints), uveitis, and aortic regurgitation.

Also associated with IBD

"Bamboo spine"

Front 274

Reactive arthritis (Reiter's syndrome)

Back 274

Arthritis without rheumatoid factor (no anti-IgG antibody). Strong assoc w HLA-B27. Occurs more often in males.

Classic triad:
1. Conjunctivitis and anterior uveitis
2. Urethritis
3. Arthritis

"Can't see, can't pee, can't climb a tree"

See with post-GI or chlamydial infections (shigella, salmonella, yersinia, campylobacter)

Front 275

Psoriatic arthritis

Back 275

Arthritis without rheumatoid factor (no anti-IgG antibody). Strong assoc w HLA-B27. Occurs more often in males.

Joint pain and stiffness assoc w psoriasis. Asymmetric and patchy involvement. Dactylitis ("sausage fingers"), "pencil-in-cup" deformity on x-ray. Seen in fewer than 1/3 of patients with psoriasis.

Front 276

Ebstein's anomaly

Back 276

pg 120

atrialized right ventricle due to lithium tox in utero.

Front 277

Caudal regression syndrome

Back 277

Linked to maternal diabetes. May present as anal atresia or as sirenomelia (legs fused)

Front 278

Gastroschisis

Back 278

Failure of the lateral body folds to fuse, leading to extrusion of abdominal contents through abdominal folds.

Front 279

Omphocele

Back 279

Persistance of herniation of abdominal contents into the umbilical cord, covered by peritoneum.

Front 280

Klinefelter's Syndrome

Back 280

XXY, 1:850

Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution. May present with developmental delay. Presence of inactivated X chromosome (Barr body). Common cause of hypogonadism seen in infertility workup.

Dysgenesis of seminiferous tubules --> dec inhibin --> inc FSH

Abnormal Leydig function --> dec testosterone --> inc LH --> inc estrogen

Front 281

Turner's Syndrome

Back 281

XO

Short stature (if left untreated < 5 feet), ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, webbing of neck (cystic hygroma), preductal coarctation of the aorta, most common cause of primary amenorrhea. No Barr body.

Dec estrogen --> inc LH and FSH

Front 282

Double Y Males

Back 282

XYY, 1:1000

Phenotypically normal, very tall, severe acne, antisocial behavior (seen in 1-2% of XYY males). Normal fertility.

Front 283

Androgen Insensitivity Syndrome

Back 283

(46, XY)

Defect in androgen receptor resulting in normal-appearing female; female external genitalia with rudimentary vagina; uterus and uterine tubes are generally absent (b/c MIF is still secreted); presents with no sexual hair; develops testes (often found in labia majora; surgically removed to prevent malignancy).

Inc testosterone, estrogen, and LH (as opposed to sex chromosome disorders)

Front 284

5α-reductase deficiency

Back 284

Inability of males to convert testosterone to DHT. Ambiguous genitalia until puberty, when inc testosterone causes masculinization/inc growth of external genitalia. Testosterone/estrogen levels are normal; LH is normal or increased. "Penis at 12." Internal genitalia are normal.

Front 285

Complete hydatidiform mole

Back 285

46, XX or XY

Extremely high hCG
Uterine size increased
2% convert to choriocarcinoma
No fetal parts
Components: 2 sperm + EMPTY egg
15-20% cause malignant trophoblastic disease

Front 286

Partial hydatidiform mole

Back 286

69, XXY

hCG is mildly increased
Uterine size is unchanged
Only very rarely converts to choriocarcinoma
Fetal parts ARE present
Components: 2 sperm + 1 egg
Low risk of malignancy (<2%)

Front 287

Preeclampsia and eclampsia

Back 287

Preeclampsia: HTN, proteinuria, edema

Eclampsia: preeclampsia + seizures

Occurs in 7% of pregnant women from 20 weeks' gestation to 6 weeks postpartum (before 20 weeks suggests a molar pregnancy).

Inc incidence in pts with preexisting HTN, diabetes, chronic kidney disease, and ai disorders.

Caused by PLACENTAL ISCHEMIA dude to impaired vasodilation of the spiral arteries, resulting in inc vascular tone.

Can be assoc w HELLP syndrome (Hemolysis, Elevated LFTs, Low Platelets). Mortality due to cerebral hemorrhage and ARDS.

CP: HA, blurred vision, abdominal pain, edema of face and extremities, altered mentaion, hyperrreflecia; lab findings may include thrombocytopenia, hyperuricemia.

Tx: deliver fetus as soon as possible. Otherwise bed rest, salt restriction, and monitoring and treatment of hypertension. IV magnesium sulfate and diazepam to prevent and treat seizures of eclampsia.

Front 288

Abruptio placentae

Back 288

Premature detachment of placenta from the implantation site. Fetal death. May be assoc w DIC. Inc risk with smoking, HTN, and cocaine use.

Painful bleeding in third trimester. Abrupt detachment/death

Front 289

Gestational diabetes

Back 289

Placenta produces hGH, which stimulates IGF-1. hGH has anti-insulin effects that can produce hyperglycemia in the mother.

Front 290

Placenta accreta

Back 290

Defective decidual layer allows placenta to attach to the myometrium. No separation of the placent after birth. Prior C-section, inflammation, and placenta previa predispose.

Massive bleeding after delivery. Accreta = "encased in" --> encased in myometrium

Front 291

Placenta previa

Back 291

Attachment of placenta to lower uterine segment. May occlude the internal os. Multiparity and prior C-section predispose.

Painless bleeding in any trimester.

Front 292

Ectopic pregnancy

Back 292

Most often in fallopian tubes. Suspect with inc hCG and sudden lower abdominal pain; confirm with ultrasound. Often clinically mistaken for appendicitis.

Retained placental tissue may cause postpartum hemorrhage.

See pain with or without bleeding

Risk factors:
- History of infertility
- Salpingitis (PID)
- Ruptured appendix
- Prior tubal surgery

Front 293

Abruptio placentae

Back 293

Premature detachment of placenta from the implantation site. Fetal death. May be assoc w DIC. Inc risk with smoking, HTN, and cocaine use.

See painful bleeding in the 3rd trimester.

Abrupt detachment/death

Front 294

Placenta accreta

Back 294

Defective decidual layer allows placenta to attach to the myometrium. No separation of placenta after birth. Prior C-section, inflammation, and placenta previa predispose

Massive bleeding after delivery. Accreta = "encased in" --> encased in myometrium.

Front 295

Placenta accreta

Back 295

Defective decidual layer allows placenta to attach to the myometrium. No separation of placenta after birth. Prior C-section, inflammation, and placenta previa predispose

Massive bleeding after delivery. Accreta = "encased in" --> encased in myometrium.

Front 296

Placenta previa

Back 296

Attachment of placenta to lower uterine segment. May occlude internal os. Multiparity and prior C-section predispose.

See painless bleeding. Bleeding can occur in any trimester.

Front 297

Placenta previa

Back 297

Attachment of placenta to lower uterine segment. May occlude internal os. Multiparity and prior C-section predispose.

See painless bleeding. Bleeding can occur in any trimester.

Front 298

Ectopic pregnancy

Back 298

Most often in fallopian tubes. Suspect with inc hCG and sudden lower abdominal pain; confirm with ultrasound. Often clinically mistaken for appendicitis.

See pain with or without bleeding.

Risk factors:
- History of infertility
- Salpingitis (PID)
- Ruptured appendix
- Prior tubal surgery

Front 299

Ectopic pregnancy

Back 299

Most often in fallopian tubes. Suspect with inc hCG and sudden lower abdominal pain; confirm with ultrasound. Often clinically mistaken for appendicitis.

See pain with or without bleeding.

Risk factors:
- History of infertility
- Salpingitis (PID)
- Ruptured appendix
- Prior tubal surgery

Front 300

Polyhydraminos

Back 300

> 1.5 ~ 2 L of amniotic fluid; assoc w esophageal/duodenal atresia, causing inability to swallow amniotic fluid, and with anencephaly.

Front 301

Oligohydraminos

Back 301

< 0.5 L of amniotic fluid; assoc w placental insufficiency, bilateral renal agenesis, or posterior urethral valves (in males) and resultant inability to excrete urine. Can give rise to Potter's syndrome.

Front 302

Endometriosis

Back 302

Non-neoplastic endometrial glands/stroma in abnormal locations outside the uterus. Characterized by cyclic bleeding (menstrual type) from ectopic endometrial tissue resulting in blood-filled "chocolate cysts." (or, "dark areas on laproscopy") In ovary or on peritoneum. Manifests clinically as severe menstrual-related pain. Often results in infertility. Can be due to retrograde menstrual flow or ascending infection.

Front 303

Adenomyosis

Back 303

Endometrium within the myometrium.

Front 304

Endometrial hyperplasia

Back 304

Abnormal endometrial gland proliferation usually caused by excess estrogen stiumulation. Increases risk for endometrial carcinoma. Clinically manifests as postmenopausal vaginal bleeding. Risk factors include anovulatory cyles, hormone replacement therapy, polycystic ovarian syndrome, and granulosa cell tumor.

Front 305

Endometrial carcinoma

Back 305

Most common gynecologic malignancy. Peak at 55-65 years of age. Clinically presents with vaginal bleeding. Typically preceded by endometrial hyperplasia.

Risk factors:
- Prolonged used of estrogens without progestins
- Obesity
- Diabetes
- HTN
- Nulliparity
- Late menopause
- Inc myometrial invasion --> dec prognosis

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Leiomyoma

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"fibroid"

Most common of all tumors in females. Often presents with multiple tumors with well-demarcated borders. Inc incidence in blaks. Benign smooth muscle tumor; malignant transformation is rare. Estrogen sensitive, tumor size increases with pregnancy and decreases with menopause. Peak occurrence at 20-40 years of age. May be asymptomatic, cause abnormal uterine bleeding, or result in miscarriage. Severe bleeding may lead to iron deficiency anemia. Does not prgress to leiomyosarcoma.

See whorled pattern of smooth muscle bundles.

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Leiomyosarcoma

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Bulky, irregularly shaped tumor with areas of necrosis and hemorrhage, typicaly arising de novo (not from leiomyoma). Inc incidence in blacks. Highly aggressive tumor with tendency to recur. May protrude from cervix and bleed. Most commonly seen in middle-aged women.

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Premature ovarian failure

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Premature atresia of ovarian follicles in women of reproductive age. Patients present with signs of menopause after puberty but before age 40.

Dec estrogen, Inc LH, FSH

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Anovulation: the most common causes

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Polycystic ovarian syndrome, obestity, Asherman's syndrome (adhesions), HPO axis abnormalities, premature ovarian failure, hyperprolactinemia, thryroid disorders, eating disorders, Cushing syndrome, adrenal insufficiency.

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Polycystic ovarian syndrome

Back 310

Increased LH production leads to anovulation, hyperandrogenism due to deranged steriod synthesis by theca cells. Enlarged, bilateral cystic ovaries manifest clinically with amenorrhea, infertility, obesity, and hirsutism. Associated with insulin resistance. Inc risk of endometrial cancer.

Treatment: Weight loss, OCPs, gonadotropin analogs, clomiphene, or surgery.

Inc LH, dec FSH, inc testosterone.

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Follicular (ovarian) cyst

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Distention of unruptured graafian follicle. May be assoc w hyperestrinism adn endometrial hyperplasia

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Corpus luteum cyst

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Hemorrhage into corpus luteum. Commonly regresses spontaneously.

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Chocolate cyst

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Blood-containing cyst from ovarian endometriosis. Varies with menstrual cycle.

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Follicular (ovarian) cyst

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Distention of unruptured graafian follicle. May be assoc w hyperestrinism adn endometrial hyperplasia

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Corpus luteum cyst

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Hemorrhage into corpus luteum. Commonly regresses spontaneously.

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Theca-lutein cyst

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Often bilateral/multiple. Due to gonadotropin stimulation. Assoc w choriocarcinoma and moles.

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Chocolate cyst

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Blood-containing cyst from ovarian endometriosis. Varies with menstrual cycle.

Front 318

Dysgerminoma (ovarian)

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Malignant, equivalent to male seminoma but rarer (1% of germ cell tumors in females vs. 30% in males). Sheets of uniform cells.

hCG, LDH

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Choriocarcinoma (ovarian)

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Rare but malignant; can develop during pregnancy in mother or baby. Large, hyperchrommatic syncytiotrophoblastic cells. Inc frequency of theca-lutein cysts. Along with moles, comprise spectrum of gestational trophoblastic neoplasia.

Increased hCG

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Yolk sac (endodermal sinus) tumor (ovarian)

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Aggressive malignancy in ovaries (testes in boys) and sacroccygeal area of young children. Yellow, friable, solid masses. 50% have Schiller-Duval bodies (resemble glomeruli).

Increased AFP

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Struma ovarii

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Teratoma that contains functional thyroid tissue. Can present as hyperthyroidism.

Front 322

Serous cystadenoma

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20% of ovarian tumors. Frequently bilateral, lined with fallopian tube-like epithelium. Benign.

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Serous cystadenocarcinoma

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50% of ovarian tumors, malignant and frequently bilateral

Front 324

Mucinous cystadenoma

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Multiocular cyst lined by mucus-secreting epithelium. Benign. Intestine-like tissue.

Front 325

Mucinous cystadenocarcinoma

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Malignant. Pseudomyxoma peritonei - intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor.

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Brenner tumor of the ovary

Back 326

Benign. Looks like bladder epithelium!

Front 327

Fibromas

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Bundles of spindle-shaped fibroblasts. Meig's syndrome: triad of ovarian fibroma, ascites, and hydrothorax. Pulling sensation in groin.

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Meig's syndrome

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Triad of:
- Ovarian fibroma
- Ascites
- Hydrothorax (serous fluid accumulation in the pleural cavity)

Pulling sensation in the groin.

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Granulosa cell tumor

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Secretes estrogen and leads to precocious puberty (in kids). Can cause endometrial hyperplasia or carcinoma in adults.

See Call-Exner bodies (small follicles filled with eosinophilic secretions).

Abnormal uterine bleeding.

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Clear cell adenoma of the vagina

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affects women who had exposure to DES in utero

Front 331

Sarcoma botyoides (rhabdomyosarcoma variant)

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Affects girls < 4 years of age; spindle-shaped tumor cells that are DESMIN positive

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Bartholin's gland cyst

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Rare, pain in labia majora; can result in previous infection

Front 333

Fibroadenoma of the breast

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Benign breast tumor

Small, mobile, firm mass with sharp edges

Most common tumor in females < 25 years of age.

Inc size and tenderness with inc estrogen (e.g. pregnancy, menstruation). NOT a precursor to breast cancer

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Intraductal papilloma of the breast

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Small tumor that grows in lactiferous ducts. Typically beneath areola.

Serous or bloody nipple discharge. Slight (1.5-2x) increase in risk for carcinoma

Front 335

Phyllodes tumor

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Large bulky mass of connective tissue and cysts in the breast. "Leaf-like" projections.

Most common in the 6th decade

Some may become malignant

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Ductal carcinoma in situ (DCIS)

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Fills the ductal lumen. Arises from ductal hyperplasia.

Early malignancy without basement membrane penetration.

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Invasive ductal carcinoma

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Firm, fibrous, "rock-hard" mass with sharp margins and small, glandular, duct-like cells.

Worst and most invasive. Most common (76% of all breast cancer)

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Invasive lobular carcinoma

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Orderly row of cells

Often multiple, bilateral

Front 339

Medullary cancer of the breast

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Malignant, fleshy, cellular, lymphocytic infiltrate.

Good prognosis

Front 340

Comedocarcinoma of the breast

Back 340

Ductal, caseous necrosis. Subtype of DCIS

Malignant

Front 341

Inflammatory cancer of the breast

Back 341

Dermal lymphatic invasion by breast carcinoma. See Peau d'orange (breast skin resembles the peel of an orange).

50% survival at 5 years

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Paget's disease of the breast

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Eczematous patches on the nipple. Paget cells = large cells in epidermis with a clear halo.

Suggests underlying carcinoma. Also seen on vulva ("would probably contain individual tumor cells that stain for mucin").

Arises in large ducts adn spreads intraepidermally to the skin of the nipple/areola.

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Fibrocystic disease of the breast

Back 343

Most common cause of breast lumps from age 25 to menopause. Presents with premenstrual breast pain and multiple lesions, often bilateral. See fluctuation in the size of the mass. Usually does NOT indicate an inc risk of carcinoma.

Histologic types:
1. Fibrosis: hyperplasia of breast stroma
2. Cystic: fluid filled, blue dome. Ductal dilation.
3. Sclerosing adenosis: inc acini and intralobular fibrosis. Assoc w calcifications.
4. Epithelial hyperplasia: inc in the number of epithelial cell layers in therminal duct lobule. Assoc w INC risk of carcinoma with atypical cells. Occurs in women > 30.

Front 344

Acute mastitis

Back 344

Breast abscess; during breast-feeding, inc risk of bacterial infection through cracks in the nipple; S. aureus is the most common pathogen.

Front 345

Fat necrosis

Back 345

A benign painless lump; forms as a result fo injury to breast tissue. Up to 50% of patients may not report trauma.

See multinucleated giant cells

Front 346

Gynecomastia

Back 346

Results from hyperestrogenism (cirrhosis, testicular tumor, puberty, old age), Klinefelter's syndrome, or drugs (Spironolactone, Digitalis, Cimetidine, Alcohol, Ketoconazole, "Some Drugs Create Awesome Knockers")

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Prostatis: symptoms and causes of acute and chronic

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Sx: dysuria, frequency, urgency, low back pain.

Acute: bacterial (e.g. E. coli)
Chronic: bacterial or abacterial (most common)

Front 348

Benign Prostatic Hyperplasia

Back 348

Nodular enlargement of the periurethral lobes (lateral and middle).

Sx: Inc frequency of urination, nocturia, difficulty starting and stopping the stream of urine, and dysuria.

May lead to distention and hypertrophy of the bladder, hydronephrosis, and UTIs.

Non considered a premalignant lesion.

Increased PSA

Tx: α1-antagonists (terazosin, tamulosin), which cause relaxation of smooth muscle.

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Prostatic adenocarcinoma

Back 349

men > 50. Arises most commonly from the POSTERIOR lobe (the PERIPHERAL zone).

See inc prostatic acid phosphatase (PAP) and PSA (inc in total PSA, with DEC fraction of free PSA).

Osteoblastic mets in bone may develope (inc in ALP)

Front 350

Seminoma

Back 350

Germ cell tumor of the testes

Malignant; painless, homogenous testicular enlargement; most common testicular tumor, mostly affecting males age 15-35. Large cells in lobules with watery cytoplasm and a "fried egg" appearance. Radiosensitive. Late metastases, excellent prognosis.

See elevated placental alkaline phosphatase (PLAP), and inc LDH

"you're Serene because there is no pain" vs. painful embryonal carcinomas.

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Embryonal carcinoma of the testes

Back 351

Malignant; painful; worse prognosis than seminoma. Often glandular/papillary morphology. Can differentiate to other tumors. May be associated with inc AFP, hCG

Front 352

Teratoma in males

Back 352

Unlike in females, mature teratoma is males is most often malignant.

Front 353

Leydig cell tumor

Back 353

Contains Reinke crystals; usually androgen producing, see gynecomastia in men, precocious puberty in boys. Golden-brown color.

10% malignant

Front 354

Sertoli cell tumor

Back 354

"Androblastoma from sex cord stroma"

Resemble seminiferous tubules

Front 355

Testicular lymphoma

Back 355

Most common testicular cancer in older men.

Front 356

Hydrocele

Back 356

Increased fluid secondary to incomplete fusion of processus vaginalis.

Front 357

Spermatocele

Back 357

Dilated epididymal duct

Front 358

Bowen's disease

Back 358

Gray, solitary, crusty plaque, usually on the shaft of the penis or on the scrotum; peak incidence in the 5th decade of life; progesses to invasice SCC in < 10% of cases

Front 359

Erythroplasia of Queyrat

Back 359

Red, velvety plaques, usually involving the glands; otherwise similar to Bowen's disease

Front 360

Bowenoid papulosis

Back 360

Muliple papular lesions; affects younger age group than other subtypes; usually does not become invasive.

Front 361

Squamous cell cancer of the penis

Back 361

More common in Asia, Africa, and South America. Commonly assoc w HPV, lack of circumcision.

Front 362

Peyronie's disease

Back 362

Bent penis due to acquired fibrous tissue formation

Front 363

Rett's disorder

Back 363

A pervasive developmental disorder.

X-linked disorder seen almost exclusively in girls (affected males die in utero or shortly after birth). Normal to age 4, followed by regression characterized by loss of development, mental retardation, loss of verbal abilities, ataxia, and stereotyped hand-wringing. Can also see microcephaly sometimes (?)

Front 364

PTSD and Acute stess disorder

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PTSD: persistant reexperiencing of a previous traumatic event. May involve nightmares or flashbacks, intense fear, helplessness, or horror. Leads to avoidance of stimuli assoc w the trauma and persistently inc arousal.

Disturbance lasts > 1 month, with onset > 1 month after the event, and causes significant distress and/or impaired functioning.

Acute stress disorder: like PTSD, but lasts between 2 days and one month.

Front 365

Generalized anxiety disorder vs. Adjustment disorder

Back 365

GAD is a pattern of uncontrollable anxiety for at least 6 months that is unrelated to a specific person, situation, or event. Asso w sleep disturbance, fatigue, and difficulty concentrating.

Tx: benzos, buspirone, SSRIs

Adjustment disorder: emotional symptoms (anxiety, depression) causing impairment following an identifiable psychosocial stressor (e.g. divorce, illness) and lasting < 6 months. (> 6 months in the presence of a chronic stressor (?))

Front 366

Somatization disorder

Back 366

Variety of complaints in multiple organ systems (at least 4 pain, 2 GI, 1 sexual, 1 pseudoneurologic) over a period of years.

Front 367

Conversion disorder

Back 367

Motor or sensory symptoms (paralysis, blindness, mutism), often following an acute stressor; patient is aware but indifferetn towards symptoms.

Note that both illness and motivation are unconscious drives.

Front 368

Anorexia nervosa: percentage below ideal body weight?

Back 368

< 85%

Front 369

Neuroleptic malignant syndrome

Back 369

Rigidity, myoglobulinuria, autonomic instability, hyperpyrexia (high fever). Caused by a reaction to neuroleptic drugs.

Tx: dantrolene, DA agonists.

FEVER:
Fever
Encephalopathy
Vitals unstable
Elevated enzymes
Rigidity of muscles

Front 370

Delirium tremens

Back 370

Life-threatening alcohol withdrawl syndrome that peaks 2-5 days after last drink.

In order of appearance: autonomic system hyperactivity (tachycardia, tremors, anxiety), psychotic symptoms (hallucinations, delusions), confusion.

Treat with benzodiazepines

Front 371

Vaginitis

Back 371

Caused by Trichomonas vaginalis.

Flagellated protozoan
Frothy yellow discharge
Strawberry cervix
Corkscrew motility on saline mounts of vaginal fluids.

Front 372

Vaginosis

Back 372

Gardnerella vaginalis

Malodorous discharge that is thin and gray (vs. frothy and yellow). Worse following menses but is not always sexually associated.