Hi-Yield Compendium Section 3.2 - 4.3

Front 1

Autosomal dominant diseases: familial hypercholesterolemia

Back 1

Abnormal LDL receptor, so unable to adequately process cholesteral in the liver, resulting in early, severe atherosclerosis.

Front 2

Autosomal dominant diseases: Familial polyposis coli

Back 2

thousands of colon polyps develop, and colon cancer eventually develops

Front 3

Autosomal dominant diseases: spherocytosis

Back 3

sphere-shaped RBCs due to defect in spectrin

Front 4

Autosomal dominant diseases: von willebrand disease

Back 4

excessive bleeding due to defect in von willebrand factor, normally von willebrand factor binds GpIb on platelets and factor VIII in serum, but this defect prevents optimal function of factor VIII and of platelets.

Front 5

Autosomal dominant diseases: Ehlers-danlos syndrome

Back 5

many forms, all due to abnormal collagen and/or elastin. Hyperextensible skin and joints.

Front 6

Autosomal dominant diseases: Marfan syndrome

Back 6

Due to fibrillin deficiency, yielding defective microfibrils.

Front 7

Autosomal dominant diseases: Achondroplasia

Back 7

Decreased chondrocyte proliferation in growth plate of long bones, so get short long bones.

Front 8

Autosomal dominant diseases: phacomatoses

Back 8

also known as neurocutaneous syndromes: NF1, NF2, tuberous sclerosis, von-hippel lindau

Front 9

Autosomal dominant diseases: Neurofibromatosis 1 = von Recklinghaausen disease

Back 9

Neurofibromas, optic nerve gliomas, pigmented nodules in iris, cafe au lait spots, axillary freckling (due to loss of NF1 gene on Chromosome 17).

Front 10

Autosomal dominant diseases: Neurofibromatosis 2 = acoustic neurofibromatosis

Back 10

Bilateral schwannomas, multiple meningiomas, hearing deficits. Due to loss of NF2 gene.

Front 11

Autosomal dominant diseases: Tuberous sclerosis

Back 11

Hamartomas and genign tumors of brain --> brain's surface looks like a potato with eyes, plus cysts of liver, kidney, and pancreas, mental retardation, facial angiofibromas, cutaneous lesions: shagreen's patches, ash leaf patches.

Front 12

Von-Hippel Lindau

Back 12

High risk of renal cell CA, capillary hemangiomas in cerebellum and retina, cysts of liver, kidney, and pancreas.

Front 13

Huntington's disease

Back 13

Degeneration of the caudate nucleus, putamen, and frontal cortex. Marked by chorea, psychiatric distruvance, and cognitive decline. due to a trinucleotide repeat of CAG on chromosome 4.

Front 14

Autosomal dominant diseases: polycystic kidney disease adult type

Back 14

Renal cysts that develop in early adulthood, high risk of berry aneurysms,

Front 15

X-linked recessive diseases Hemophilia A

Back 15

Due to lack of Factor VIII

Front 16

X-linked recessive diseases Hemophilia B

Back 16

Due to lack of factor IX

Front 17

X-linked recessive diseases: Glucose-6-phosphate dehydrogenase deficiency

Back 17

Due to inability to adequately eradiate radical oxygen species, especially in RBCs, hemolysis occurs with exposure to excess radicals.

Front 18

X-linked recessive diseases: Fragile X syndrome

Back 18

Results in structrual defects in chromosome X. Some clinical findings: Mental retardation, large ears and jaw, bilateral macroorchidism. See a triple repeat disorder of CGG that demonstrates anticipation.

Front 19

X-linked recessive diseases: Fabry disease

Back 19

Type of sphingolipidosis (all others are autosomal recessive). Due to decreased alpha galactosidase A. Characterized by angiokeratomas and renal failure.

Front 20

X-linked recessive diseases: Lesch-Nyhan syndrome

Back 20

Due to deficiency in hypoxanthine-guanine phosphoribosyltransferase, resulting in excessive production of uric acid. Results in self mutilation.

Front 21

X-linked recessive diseases: Duchenne muscular dystrophy

Back 21

Due to lack of dystrophin, a protein necessary for normal muscle tone and function. Always marked by very high creatine kinase and by proximal muscle weakness, and eventual muscle atrophy.

Front 22

X-linked recessive diseases: Becker muscular dystrophy

Back 22

Like duchenne, but less severe. Due to decreased levels of dystrophin.

Front 23

X-linked recessive diseases: Burton's agammaglobulinemia

Back 23

Due to low or absent mature B cells. Reulst in recurrent bacterial infections.

Front 24

X-linked recessive diseases: Wiskott-Aldrich syndrome

Back 24

Classic triad; otitis media, eczema, thrombocytopniea, associated with IgM dysfunction.

Front 25

X-linked recessive diseases: Chronic granulomatous disease

Back 25

granulomas form because neutrophils and macrophages are unable to eradicate the foreign substance. Characterized by multiple granuloma formation.

Front 26

X-linked recessive diseases: Hunter's disease

Back 26

the only mucopolysaccharidosis that is x-linked recessive, marked by mental retardation and normal corneas.

Front 27

Deletions: 5p

Back 27

cri-di-chat, high-pitched, cat-like cry, microcephaly, mental retardation

Front 28

Deletions: 13q

Back 28

retinoblastoma, malignant retinal tumor of childhood

Front 29

Prader Willi syndrome vs Angelman Syndrome

Back 29

Both involve deletion of portion of chromosome 15.

Front 30

Prader Willi

Back 30

Severe hypotonicity as infant, obesity, mental retardation

Front 31

Angelman Syndrome

Back 31

Smiley, wide gait and ataxia, mental retardation, inappropriate laughter

Front 32

HLA A3

Back 32

Hemochromatosis, bronze skin, diabetes, cirrhosis

Front 33

HLA B27

Back 33

Can't see, can't pee, can't climb a tree.
Ankylosing spondylitis (sacroiliitis, bamboo spine, uveitis), reactive arthritis (conjunctivitis, urethritis, arthritis), psoriatic arthritis (psoriasis, rheumatoid arthritis like symptoms, no rheumatoid factor)

Front 34

HLA DR2

Back 34

Narcolepsy (sleep attacks, cataplexy, sleep paralysis), multiple sclerosis (nystagmus, scanning speech, intention tremor), psoriatic arthritis (psoriasis, rheumatoid arthritis-like symptoms, no rheumatoid factor)

Front 35

HLA DR3

Back 35

DR3, SLE, give the insulin to me
SLE (malar rash, nephropathy, arthritis), Type I diabetes (hyperglycemia, risk of DKA, infections), Celiac disease (malabsorption, glutensensitivity, steatorrhea)

Front 36

DR4, Dw4, Dw14

Back 36

Rheumatoid arthritis (7 criteria, need 4 for dx), juvenile rheumatoid arthritis (<16 years old, RA like arthritis, no rheumatoid factor)

Front 37

Most comon cause of: amenorrhea

Back 37

pregnancy

Front 38

Most comon cause of: pancreatitis

Back 38

alcohol abuse

Front 39

Most comon cause of: anemia

Back 39

iron deficiency

Front 40

Most comon cause of: nephrotis syndrome

Back 40

children: minimal change disease. adults: membranous glomerulonephritis

Front 41

Most comon cause of: osteomyelitis

Back 41

staphylococcus aureus (in diabetics and sickle cell disease patients, most commong cause is salmonella, in IV drug users: serratia and pseudomonas aeruginosa)

Front 42

Most comon cause of: constipation

Back 42

dehydration

Front 43

Most comon cause of: kidney stones

Back 43

dehydration

Front 44

Most comon cause of: pneumonia

Back 44

strep pneumoniae

Front 45

Most comon cause of: ascites

Back 45

alcoholic cirrhosis

Front 46

Most comon cause of: death

Back 46

heart disease

Front 47

Most comon cause of: male pseudohermaphrodism

Back 47

testicular feminization

Front 48

Most comon cause of: female pseudohermaphrodism

Back 48

adrenogenital syndrome

Front 49

Most comon cause of: calf claudication

Back 49

peripheral vascular disease

Front 50

Most comon cause of: left sided heart failure

Back 50

coronary artery disease

Front 51

Most comon cause of: atherosclerosis

Back 51

elevated LDL cholesteral

Front 52

Most comon cause of: DVT

Back 52

blood statis

Front 53

Most comon cause of: wheezing

Back 53

asthma

Front 54

Most comon cause of: a cold in fall/winter

Back 54

rhinovirus

Front 55

Most comon cause of: a cold in spring/sumer

Back 55

adenovirus

Front 56

Most comon cause of: bronchiectasis

Back 56

cystic fibrosis

Front 57

Most comon cause of: pleural effusion and pulmonary edema

Back 57

CHF

Front 58

Most comon cause of: septic shock

Back 58

gram negative bacteria

Front 59

Most comon cause of: poisoning in the US

Back 59

carbon monoxide

Front 60

Most comon cause of: iron deficiency at >50 years of age

Back 60

colon cancer

Front 61

Most comon cause of: vomiting

Back 61

viral infection

Front 62

Most comon cause of: hematemesis

Back 62

duidenal ulcer

Front 63

Most comon cause of: hematochezia

Back 63

diverticulosis

Front 64

Most comon cause of: melena

Back 64

duodenal ulcer

Front 65

Most comon cause of: acute RLQ pain

Back 65

appendicitis

Front 66

Most comon cause of: acute infectious diarrhea

Back 66

norovirus

Front 67

Most comon cause of: small bowel obstruction

Back 67

adhesions

Front 68

Most comon cause of: erectile dysfunction

Back 68

diabetes

Front 69

Most comon cause of: hyperthyroidism

Back 69

graves' disease

Front 70

Most comon cause of: hypothyroidism

Back 70

hashimoto's disease

Front 71

Most comon cause of: yellow CSF: xanthochromia

Back 71

bleed in the CNS

Front 72

Most comon cause of: acute onset coma

Back 72

poisoning or drug overdose

Front 73

Most comon cause of: blindness in the elderly

Back 73

macular degeneration

Front 74

Most comon cause of: tremor

Back 74

essential tremor

Front 75

Most comon cause of: dementia

Back 75

alzheimer's disease

Front 76

Most comon cause of: psychosis

Back 76

depression

Front 77

Most comon cause of: headache

Back 77

tension headache

Front 78

Systemic Lupus Erythematosus

Back 78

Hypersensitivity types II and III. Characteristic body regions affected the most: skin, CNS, kidneys, joints. Autoantibodies: ANA, anti-ds DNA, anti-Smith. Nephropathy is a common feature and often demonstrates proteinuria.

Front 79

4 types of nephropathy

Back 79

Mesangial disease: transient proteinuria, proliferation of mesangial matrix and mesangial cells.
Focal proliferative nephritis: proteinuria and hematuria, proliferation of mesangial cells and matrix and endothelial proliferation, focal lesions.
Diffuse proliferative nephritis: nephrotic syndrome, gross hematuria, proliferationof mesangium and endothelium, epithelium, crescent formation, diffus lesions, subendothelial immuen complex deposits, renal fialure, hypertension.
Membranous glomerulonphropathy - nephrotic syndrome, endothelial thickening, subepithelial immune complex deposits.

Front 80

Focal sclerosis : CREST

Back 80

Calcinosis, raynaud's, esophageal dysmotility, sclerodactyly, telangiectasia

Front 81

Progressive Systemic Sclerosis

Back 81

Visceral organ fibrosis, facial tightening, sclerodactyly

Front 82

Sjogren's Syndrome

Back 82

Autoimmune destruction of lacrimal and salivary glands. Se xerostomia, keratoconjunctivitis sicca, arthritis

Front 83

Phagocyte disorder: Job's syndrome

Back 83

Deficient gamma-interferon. candidiasis, cold abscesses, sinopulmonary infections.

Front 84

Phagocyte disorder: chediak-higashi syndrome

Back 84

impaired microtubules, limiting WBC movement and use of granules Bacterial infections, viral infections, partial albinism

Front 85

Phagocyte disorder: Chronic granulomatous disease

Back 85

Deficient NADPH oxidase, causing impaired respiratory burst, granulomas, recurrent bacterial and fungal infections, yellow NBT test

Front 86

Humoral immunity disorder: Bruton'a agammaglobulinemia

Back 86

No mature B cells, DIAD: recurrent severe pyogenic bacterial infections, severely low amount of Abs.

Front 87

Humoral immunity disorder: IgA deficiency

Back 87

IgA-producing plasma cells fail to develop. Bacterial infections of mucus membranes, possible anaphylaxis to transfused blood, reduced levels of IgA.

Front 88

Humoral immunity disorder: Common variable immunodeficiency

Back 88

Abnormal B cell maturation. Recurrent pyogenic bacterial infections, normal number of B cells, decreased levels of Abs.

Front 89

Cell-mediated immunity disorders: digeorge syndrome

Back 89

defect in 3rd and 4th pharyngeal pouches results in developmental failur eof thymus and parathyroids. Profound deficits in T cells, severe, recurrent viral, fungal, and protozoal infections, tetany, hypocalcemia.

Front 90

Cell-mediated immunity disorders: chronic mucocutaneous candidiasis

Back 90

Inability of t cells to destroy candida albicans. Chronic candidiasis, normal t cell numbers.

Front 91

Cell-mediated immunity disorders: Hyper-IgM syndrome

Back 91

Inability of B cells to class sitch from IgM to IgG production. Severe, recurrent pyogenic infections.

Front 92

Combined B cell and T cell disorders: Severe combined immunodeficiency

Back 92

1. IL-2 receptor defect on CD4 and CD8 cells OR
2. T cell secondary messenger system defect OR
3. Defect in T cell ability to interact with APCs OR
4. Absence of adenosine deaminase, resulting in increased dATP and ultimately decreased DN production, T and B cell production severely decreased OR
5. Defective class I &/or II MHC

See recurrent bacterial, viral, fungal, and protozoal infections, low antibody levels, no lymph nodes, most common presenting infection is Pneumocystis pneumonia.

Front 93

Combined B cell and T cell disorders: Wiskott-Aldrich syndrome

Back 93

B cells not stimulated to produce IgM. Recurrent bacterial infections, eczema, thrombocytopenia, low IgM levels.

Front 94

Combined B cell and T cell disorders: Ataxia-telangiectasia

Back 94

Deficient DNA repair enzymes, resulting in T cell and B cell deficiencies. Ataxia; telangiectasia; recurrent infections; increased malignancy risk; low T cell numbers, significant IgA deficiency.