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2014 Cards in this Set

  • Front
  • Back
Often precedes squamous cell carcinoma
Actinic keratosis

Sun exposure causes pre-malignant lesions (SCC)
*Dysplasia ~ malignancy risk

Red or brown papules
Cutaneous horns (macroscopic)
1 adrenocortical deficiency
Addison's disease
Polyostotic fibrous dysplasia
Precocious puberty
Cafe-au-lait spots
Short stature
Young girls
Albright's syndrome
Disease in which albuminocytologic dissociation is observed
Guillian-Barre
Albuminocytologic dissociation
CSF protein increase, but only modest increase in cell count
Hereditary nephritis
Nerve deafness
Alport's syndrome
Anti-basement membrane antibodies
Goodpasture's syndrome
Anti-centromere antibodies
CREST

C --> C: Centromere --> CREST
Anti-ds DNA
SLE (type 3 hypersensitivity)
Anti-epithelial cell antibodies
Pemphigus vulgaris
Antigliadin antibodies
Celiac disease
Anti-histone antibodies
Drug-induced SLE
Anti-IgG antibodies
Rheumatoid factor

Rheumatoid arthritis
Antimitochondrial antibodies
Primary biliary cirrhosis
Anti-neutrophil antibodies
Vasculitis

p-ANCA, c-ANCA
Anti-platelet antibodies
Idiopathic thrombocytopenic purpura
Arachnodactyly
Marfan's syndrome
Argyll Robertson pupil
Neurosyphilus
Arnold-Chiari malformation
Cerebellar tonsillar herniation
Aschoff bodies
Rheumatic fever

Aschoff = Webby area that contains anitschow cells (nuclei look like a football stitch)
Atrophy of the mammillary bodies
Wernicke's encephalopathy
Auer rods
Acute myelogenous leukemia (especially the promyelocytic type-M3)
Autosplenectomy
Sickle cell anemia
Babinski's sign
UMN lesion
Baker's cyst in popliteal fossa
Rheumatoid arthritis
Bamboo spine on X-ray
Ankylosing spondylitis
Bartter's syndrome
Hyperreninemia
Basophilic stippling of RBCs
Lead poisoning
Becker's muscular dystrophy
Defective dystrophin

Less severe than Duchenne's
Bell's palsy
LMN CN VII palsy
Bence Jones proteins
Multiple myeloma (kappa or lambda Ig light chains in urine--+lytic bone lesions)

Waldenstrom's macroglobulinemia (IgM)
Berger's disease
IgA nephropathy
Bernard Soulier disease
Defect in platelet adhesion (GP1a)
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Birbeck granules on EM
Histiocytosis X (eosinophilic granuloma)
Bloody tap on LP
Subarachnoid hemorrhage
Blue bloater
Chronic bronchitis
Blue-domed cysts
Fibrocystic change of the breast

(Subtype)
Blue sclera
Osteogenesis imperfecta

Also multiple fractures
Hearing loss (middle ear bones break)
Dental imperfections (lack of dentin)
Boot shaped heart on Xray
Right ventricular hypertrophy

Often as part of
Tetralogy of Fallot
Bouchard's nodes
PIP swelling as part of osteoarthritis

Secondary to osteophyte formation
Boutonniere deformity
Rheumatoid arthritis

Flexion of PIP
Hyperextension of DIP
Branching rods in oral infection
Actinomyces Israelii
Bruton's disease
X-linked agammaglobulinemia
Budd-Chiari syndrome
Post-hepatic venous thrombosis
Buerger's disease
Burger vs. "le Buerger" (petite?)

SMALL AND MEDIUM VESSELS

a.k.a. Thromboangitis obliterans

Causes vascular thromboses:
*Claudication and severe pain
*Superficial nodular phlebitis
*Raynaud's
*GANGRENE

Seen in HEAVY SMOKERS
*Tx = Stop smoking
Burkitt's lymphoma
8-->14 translocation

Associated w/EBV

Starry sky (macros in lymphocytes) appearance on histology
Burton's lines
Lead poisoning

Lead sulfide deposition at the interface of teeth and gums
Cafe au lait spots on skin
Neurofibromatosis

(also Albright's syndrome)
Caisson disease
Caisson --> Poisson --> FISH


a.k.a. "The bends," Decompression dz

Gas emboli
Calf pseudohypertrophy
Duchenne's muscular dystrophy
Call-Exner bodies
Granulosa-theca cell tumor of the ovary

Granulosa and theca surround an "egg" that isn't there--eosinophils instead
Cardiomegaly w/apical atrophy
Chagas disease
Cerebriform nuclei
Cutaneous T cell lymphoma
a.k.a. Mycosis fungiodes

Itchy skin patch --> Raised plaque --> Mushroom tumor

(The other form of cutaneous TCL is Sezary syndrome)
Chagas disease
Trypanosome infection

Cardiomegaly
Megacolon
Megaesophagus
Chancre
Primary syphilus

Not painful
Chancroid
Haemophilus ducreyi

PAIN differentiates from syphilus chancre
Charcot's triad
There are 2!
JR Fudge sundaes are a SIN

Multiple sclerosis: SIN
*Scanning speech
*Intention tremor
*Nystagmus

Cholangitis: JR Fudge
*Jaundice
*RUQ pain
*Fever
Charcot-Leyden crystals
Product of eosinophil breakdown (membrane component)

Seen as part of Bronchial asthma along w/Curschmann's spirals (whorled mucus plugs)
Curschmann's spirals
Whorled mucus plugs

Seen as part of Bronchial Asthma along w/Charcot-Leyden crystals
Chediak-Higashi disease
Phagocyte deficiency
Cherry-red spot on macula
Lysosomal storage diseases:
*Tay Sachs (Hexosaminidase A)
*Neimann-Pick disease (sphingomyelinase)

Central retinal artery occlusion
Cheyne-Stokes respirations
Central apnea (irregular breathing)

Causes: CHF, Increased ICP
Chocolate cysts
Feature of endometriosis

Frequently involves both ovaries
Chronic atrophic gastritis
Predisposition to gastric carcinoma
Chvostek's sign
Facial muscle spasm upon tapping

Sign of hypocalcemia
(Low Ca2+ tetany)
Clear cell adenocarcinoma of the vagina
DES exposure in utro
Clue cells
Gardnerella vaginitis
Codman's triangle on X-ray
Osteosarcoma
Cold agglutinins
IgM

Mycoplasma pneumoniae
Mononucleosis
Cold intolerance
Hypothyroidism
Condyloma lata
2 Syphilis

Whitish confluence of smaller (red) skin rashes

Often on the palms and soles
Continuous machinery murmur
Patent ductus arteriosus
Cori's disease
Debranching enzyme deficiency
Cotton-wool spots
Chronic hypertension

Puffy white patches on retina
Cough, conjunctivitis, coryza
+
Fever
Coryza = Head cold

Measles
Councilman bodies
Hepatitis

Toxic OR viral
Cowdry A bodies
Herpes virus
Crescents in Bowman's capsule
Rapidly progressive crescentic glomerulonephritis
Crigler-Najjar syndrome
Congenital unconjugated hyperbilirubinemia

Type 1: Greatly REDUCED UDP-glucuronyl transferase
Greatly reduced UDP-glucuronyl transferase
*Tx: PHENOBARBITOL (increases liver enzyme synthesis)

Type 2: ABSENT UDP-glucuronyl transferase
*Jaundice
*Kernicterus (bilirubin in brain)
*Tx: Phototherapy, plasmapheresis
Curling's ulcer
Acute gastric ulcer associated w/severe burns
Currant-jelly sputum
Klebsiella
Cushing's ulcer
Acute gastric ulcer associated w/CNS injury
D-dimers
DIC
Depigmentation of neurons in substantia nigra
Parkinson's disease

Rigidity, resting tremor, bradykinesia
Dermatitis, dementia, diarrhea
Pellagra

Vitamin B3 (niacin) deficiency
Diabetes insipidus
+
Exopthalmos
+
Lesions of skull
Hand-Schuller-Christian disease

"Chronic progressive histiocytosis"

A multifocal, unisystem langerhans cell histiocytosis seen mostly in children
*Bone invasion
*50% involve pituitary --> DI
Dog or cat bite
Pasteurella multocida
Donovan bodies
Granuloma inguinale (bacterial infection)
Dressler's syndrome
Post-MI fibrinous pericarditis

Weeks-months later
Duchenne's muscular dystrophy
Deleted dystrophin gene

X-linked recessive
Eburnation
Osteoarthritis

Polished, ivory-like appearance of bone
Edward's syndrome
Trisomy 18

Low-set ears
Heart problems
Rocker bottom feet
Eisenmenger's complex
Change in pathological shunt flow direction during late cyanosis
*When R heart P > L heart

L--> R changes to R --> L
Elastic skin
Ehlers-Danlos syndrome
Erb-Duchenne palsy
Superior trunk (C5-C6) injury

"Waiter's tip"
Erythema chonicum migrans
Lyme disease
Fanconi's syndrome
Proximal tubular reabsorption defect
Fat
Female
Forty
Fertile
Acute cholecystitis
Fatty liver
Alcoholism

(+ Obesity)
Ferruginous bodies
Asbestosis
Gardner's syndrome
Form of FAP

Colon polyps
+
Osteomas (usually skull), soft tissue tumors
Gaucher's disease
Glucocerebrosidase Deficiency
Ghon focus
TB
Glanzmann's thrombasthenia
Defect in platelet aggregation (2b-3a)
Goodpasture's syndrome
Autoantibodies against basement membrane proteins of:
1. Alveoli
2. Glomerulus
Gower's maneuver
Seen w/Duchenne's

Use of patient's arms to help legs pick self off from the floor
Guillian-Barre syndrome
Idiopathic polyneuritis

Distal --> Proximal
Hair-on-end/Crew cut skull appearance on X-ray
Extramedullary hematopoiesis

Seen w/sickle cell, B-thalassemia
Hand-Schuller-Christian disease
Chronic progressive histiocytosis

Diabetes insipidus
+
Exopthalmos
+
Lesions of skull
HbF
Thalassemia major
HbS
Sickle cell anemia
hCG elevated
Choriocarcinoma, hydatiform mole

Pregnancy
Heberden's nodes
Osteoarthritis

DIP swelling 2 to osteophytes
Heinz bodies
G6PD deficiency
Henoch-Schonlein Purpura
#1 childhood vasculitis

A hypersensitivity vasculitis

Associated w/URIs

Causes

1. Hemorrhagic urticaria that appear and age together

2. Joints (arthritis)

3. GI (Intestinal hemorrhage)
*Abdominal pain and melena

Henoch = NOCH knees (joints)
Schonlein = Stomach
Purpura = Purpura
Heterophil antibodies
Infectious mononucleosis (EBV)
High-output cardiac failure
Dilated cardiomyopathy

Seen w/Wet Beriberi (B1 deficiency)
HLA-B27
PAIR:

Psoriasis

Ankylosing spondylitis

IBD

Reiter's syndrome (See, Pee, Climb a tree/Bend the knee)
HLA-B8
Skinny people......I wish they 8 more

Graves disease

Celiac sprue
HLA-DR2
1 representative from each hypersensitivity type:

Hay fever
Goodpasture
SLE
Multiple sclerosis
HLA-DR3
Diabetes mellitus type 1
HLA-DR4
Diabetes mellitus type 1

Rheumatoid arthritis
*4 walls in a "rheum"
HLA-DR5
5 = TIRED

Pernicious anemia (B12 def)
Hashimoto's thyroiditis
HLA-DR7
Steroid-responsive nephrotic syndrome

7 year olds...
SLE antibodies
ANA

Anti-phospholipid: May cause false + for syphilus

Very specific:

Anti-dsDNA: Poor prognosis

Anti-Smith (rna binding prot): no prognostic info

Drug induced:
Anti-histone (drug induced)
Scleroderma antibodies
Anti-centromere = CREST

Anti-Scl-70/topoisomerase = Diffuse
Primary biliary cirrhosis antibody
Anti-mitochondrial
Pemphigus vulgaris antibody
Anti-epithelial cell (desmosomes)
Hashimoto's thyroiditis antibodies
Hashes moto (microsome) and thyroiditis (thyroglobulin)

Anti-microsomal

Anti-thyroglobulin
Polymyositis, Dermatomyositis antibodies
Anti-Jo-1
Sjogren's syndrome antibodies
Anti-SS-A (anti-Ro)

Anti-SS-B (anti-La)
*More specific than SSA
Anti-U1 RNP antibody
Mixed connective tissue diseases

SLE, Scleroderma
Autoimmune hepatitis antibody
Anti-smooth muscle
Type 1 diabetes mellitus antibody
Anti-glutamate decarboxylase
Wegener's granulomatosis antibody
c-ANCA

Binds proteinase 3 in neutrophil cytoplasm
p-ANCA
Binds myeloperoxidase, which aggregates around neutrophil nucleus
Homer Wright rosettes
Neuroblastoma
Honeycomb lung on X-ray
Interstitial fibrosis
Horner's syndrome
Ptosis
Anhydrosis
Miosis

SC lesion above T1
Howell-Jolly bodies
Splenectomy or non-functional spleen
Huntington's disease
Caudate degeneration
Decreased GABA, Ach

Autosomal dominant
Chromosome 4
Hyperphagia + hypersexuality + hyperorality + hyperdocility
Kluver-Bucy syndrome (amygdala)
Hyperpigmentation of skin
Addison's (1 adrenal insufficiency)
Hypersegmented neutrophils
Megaloblastic/macrocytic anemia
Hypertension + Hypokalemia
Conn's syndrome (aldosterone secreting adenoma)

A form of primary aldosteronism

HTN
Hypokalemia
Alkalosis
Hypochromic microcytosis
Iron deficiency anemia
or
Lead poisoning
Increased alpha-fetoprotein in amniotic fluid/maternal serum
Neural tube defects
(Anencephaly, spina bifida)
Increased uric acid levels
GoLLuM

Gout
Lesch-Nyhan (HGPRT deficiency)
Loop and thiazide diuretics
Myeloproliferative disorders
Intussusception: Cause
Adenovirus

Causes hyperplasia of Peyer's patches
Janeway lesions
Endocarditis

Found on palms, soles
Jarisch-Herxheimer reaction
Syphilis

Overaggressive treatment of an asymptomatic patient

Symptoms are due to rapid bacterial lysis and toxin release
Job's syndrome
Abnormalities w/neutrophil chemotaxis
Kaposi's sarcoma
AIDS in MSM
Kartagener's syndrome
Dynein defect (microtubules of cilia are missing dynein arms)

Situs inversus, infertility, etc.
Kayser-Fleischer rings
Wilson's disease
Keratin pearls
Squamous cell carcinoma
Kimmelsteil-Wilson nodules
Diabetic nephropathy
Koilocytes
HPV
Koplik spots
Measles
Krukenberg tumor
Gastric adenocarcinoma that metastasizes to ovary
Kussmaul Hyperpnea
Diabetic ketoacidosis
Kussmaul Hyperpnea
Diabetic ketoacidosis
Lens dislocation

Aortic dissection

Joint hyperflexibility
Marfan's syndrome
Fibrillin deficit
Marfan's syndrome
Lesch-Nyhan syndrome
HGPRT deficiency

"He's got purine trouble"
Lewy bodies
Parkinson's disease
Frontotemporal dementia (Pick's disease)

Alpha synuclein
Libman-Sacks disease
Endocarditis associated w/SLE

"LSE w/SLE"

Verrucous (wart-like) lesions on both sides of mitral valve
Lines of Zahn
Arterial thrombus
Lisch nodules
Neurofibromatosis
Von Recklinghausen's diease
*17 letters = chromosome 17

Lisch = Hyperpigmented areas on iris
Low serum ceruloplasmin
Wilson's disease
Lucid interval
Epidural hematoma
Lumpy bumpy appearance of glomeruli on immunofluorescence
Post-streptococcal glomerulonephritis
Lytic bone lesions on X-ray
Multiple myeloma

Met from lung
Mallory bodies
Alcoholic liver disease

Eosinophilic
Mallory-Weiss syndrome
Esophagogastric lacerations

PAINFUL (esophageal varices are not)
McArdle's disease
Muscle phosphorylase deficiency
McBurney's sign
Appendicitis

Deep tenderness at McBurney's point (RLQ)
MLF Syndrome
Multiple sclerosis
Monoclonal antibody spike
1. Multiple myeloma: IgG or IgA
*Called the "M protein"

2. Waldenstrom's macroglobulinemia: IgA

3. MGUS (Monoclonal gammopathy of undetermined significance)
Myxedema
Hypothyroidism
Necrotizing vasculitis (lungs)
+
Necrotizing glomerulonephritis
Goodpasture's syndrome

Wegener's
Needle shaped, negatively birefringent (yellow) crystals
Gout
Negri bodies
Rabies
Nephritis
+
Cataracts
+
Hearing loss
Alport's syndrome
Neurofibrillary tangles
Alzheimer's disease
Neimann-Pick disease
Sphingomyelinase deficiency
No lactation postpartum
Sheehan's syndrome (pituitary infarction)
Nutmeg liver
CHF
Occupational exposure to asbestos
Maligant mesothelioma
Orphan Annie nuclei
Papillary carcinoma of the thyroid

Lots of Orphans in the PAPulation
Osler's nodes
Endocarditis
Owl's eye
CMV
Painless jaundice
Pancreatic cancer (head)
Pancoast's tumor
Bronchogenic apical tumor

*May cause Horner's sydrome
Pannus
Rheumatoid arthritis
Parkinson's disease
Nigrostriatal dopamine depletion

Failure to excite the excitatory
+
Failure to inhibit the inhibitory

Lewy bodies (Alpha synuclein)

Depigmentation of the substantia nigra

TRAP:
Tremor at Rest
Rigidity (cogwheel)
Akinesia (impaired movement)
Postural instability
Periosteal elevation on X-ray
Pyogenic osteomyelitis
Peutz-Jegher's syndrome
Benign polyposis
Peyronnie's disease
Penile fibrosis

Bent penis
Philadelphia chromosome
CML (sometimes AML)
Pick bodies
Pick's disease (Frontotemporal dementia)
Pink puffer
Emphysema

Centroacinar = smoking
Panacinar = Alpha 1 def
Centroacinar emphysema
Smoking
Panacinar emphysema
Alpha-1-antitrypsin deficiency
Pick's disease
Progressive dementia

Pathology similar to PD
Progression similar to AD
Plummer-Vinson syndrome
Plumber wearing a WIG:

Webs (Esophageal--dysphagia)
Iron deficiency anemia
Glossitis
Podagra
Gout at the MP joint of big toe
Hallux
Big toe
Podocyte fusion
Minimal change disease/Lipoid nephrosis
Polyneuropathy
Cardiac pathology
Edema
Dry beriberi

(B1 deficiency)
Polyneuropathy preceded by GI or respiratory infection
Guillain-Barre
Pompe's disease
Lysosomal glucosidase deficiency

Associated w/cardiomegaly

*TV: Girl had progressive muscle weakness, tons of glycogen in muscle
Port-wine stain
Hemangioma

(seen w/Sturge-Weber)
Positive anterior drawer sign
ACL injury
Pott's disease
Vertebral TB

Considered a form of osteomyelitis
Pseudopalisade tumor cell arrangement
GBM
Pseudorosettes
Ewing's sarcoma

Neuroectodermal origin
Ptosis, miosis, anhidrosis
Horner's syndrome

Often Pancoast's tumor
Rash on palms and soles
2 syphilis

Rocky mountain spotted fever
Raynaud's syndrome
Recurrent vasospasm in extremities
RBC casts in urine
Acute glomerulonephritis
Recurrent pulmonary Pseudomonas and S. aureus infections
Cystic fibrosis
Red urine in the morning
Paroxysmal nocturnal hemoglobinuria

Complement disorder
Reed-Sternberg cells
Hodgkin's lymphoma
Reid index
Increased w/chronic bronchitis

Mucus:Total thickness ratio
Reinke crystals
Leydig cell tumor

(Testosterone)
Reiter's syndrome
Can't see, pee, climb a tree/bend the knee

Conjunctivitis
Urethritis
Arthritis

HLA-B27 (MHC1) association
More common in males

Happens after you've "REITED" an STD (chlamydia)

Happens after you haven't been EITing (GI infection)
Renal cell carcinoma
+
Cavernous hemangiomas
+
Adenomas
Von hippel landau (chromosome 3)
Renal EPITHELIAL casts in urine
Acute toxic/viral nephrosis
Rhomboid crystals
Positively birefringent
Pseudogout
Affects older people (>50)
M=F

Calcium pyrophosphate
Usually affects the knee

NO TREATMENT
Rib notching
Coarctation of the aorta

Caused by enlarged intercostal collaterals
Roth spots
Endocarditis

Retinal hemorrhages w/pale or white centers
Rotor's syndrome
Congenital conjugated hyperbilirubinemia

Less severe than Dubin-Johnson
No black liver
Rouleaux formation
Multiple myeloma

Stacked RBCs
S3
Increased volume within the ventricle

Left to right shunt
Mitral regurgitation
LV failure
S4
Atria contracting forcefully to overcome stiff ventricle

Aortic stenosis
Hypertrophic subaortic stenosis

Long-standing HTN
Fibrosis (post MI)
Schiller-Duval bodies
Yolk sac tumor
Senile plaques
Alzheimer's disease

B-amyloid
Sezary syndrome
Form of cutaneous T cell lymphoma

T cells have pathological quantities of mucopolysaccharides

(The other form is Mycosis fungiodes)
Sheehan's syndrome
Postpartum pituitary infarction/necrosis
Shwartzman reaction
Neisseria meningitidis

1st exposure: Inflammation, thrombosis (can be cleared)

2nd exposure: Necrosis
Signet-ring cells
Gastric carcinoma
Simian crease
Down syndrome
Sipple's syndrome
Men Type 2a

Medullary Thyroid CA + Hyperparathyroidism

Men 2B = Medullary thyroid CA + Pheochromocytoma
Sjogren's syndrome
Dry eyes
Dry mouth
Arthritis
Skip lesions
Crohns
Slapped cheeks
Erythema infectiosum (5th's disease)

B19 Parvo
Slapped cheeks
Erythema infectiosum (5th's disease)

B19 Parvo
Smudge cell
CLL
"Soap bubble" on X-ray
Giant cell tumor of bone
Spike and dome on EM
Membranous glomerulonephritis
Spitz nevus
Benign juvenile melanoma
Splinter hemorrhages in fingernails
Endocarditis
Starry-sky pattern
Burkitt's lymphoma (EBV)
8-->14 translocation
Strawberry tongue
Scarlet fever
Streaky ovaries
Turner's syndrome
String sign on X-ray
Crohn's disease
Subepithelial humps on EM
Post-streptococcal glomerulonephritis
Sub-occipital lymphadenopathy
Rubella
Sulfur granules
Actinomyces israelii
Swollen gums, bruising, poor wound healing, anemia
Scurvy

Vitamin C necessary for hydroxylation of proline and lysine in collagen synthesis
Systolic ejection murmur
Aortic stenosis
8-->14 translocation
Burkitt's lymphoma

c-myc
9-->22 translocation
Philadelphia chromosome

CML

Bcr-abl fusion
14 --> 18 translocation
Follicular lymphoma

Bcl-2 activation
Tabes dorsalis
3 Syphilis
Tendon xanthomas
Familial hypercholesterolemia
Thumb sign on lateral x-ray
Acute epiglottitis

H. Influenzae
Thyroidization of the kidney
Chronic bacterial pyelonephritis
Tophi
Gout
Tram-track appearance on LM
Membranoproliferative glomerulonephritis

Appearance: 2 glomerular basement membranes in parallel
Trousseau's sign
Carpal spasm w/arm cuff

Visceral cancer
Pancreatic adenocarcinoma
Hypocalcemia
Virchow's node
Left supraclavicular node enlargement

Metastatic carcinoma of the stomach
Virchow's triad
Pulmonary embolism

1. Blood stasis
2. Endothelial damage
3. Hypercoagulation
Von Recklinghausen's disease
Neurofibromatosis type 1
Von Recklinghausen's disease of bone
Osteitis fibrosa cystica

"Brown tumor"
Wallenberg's syndrome
PICA thrombosis
Waterhouse-Friderichsen syndrome
Meningococcemia --> Adrenal hemorrhage
Waxy casts
Chronic end-stage renal disease
WBC casts in urine
Acute pyelonephritis
WBCs in urine
Acute cystitis
Wermer's syndrome
MEN type 1

Pituitary
Parathyroid
Pancreas
Whipple's disease
Malabsorption syndrome

Caused by tropheryma whippelii
Wilson's disease
a.k.a. hepatolenticular degeneration
Wire loop lesions on LM
Loop --> Loopus

Lupus nephropathy
Worst headache of my life
Berry aneurysm

Associated w/adult PCKD
Xanthochromia
Yellow CSF--processed RBCs

Subarachnoid hemorrhage
Xerostomia
+
Arthritis
+
Keratoconjunctivitis sicca
Sjogren's
Zenker's diverticulum
Upper GI diverticulum

Halitosis
Zollinger-Ellison syndrome
Gastrin secreting tumor associate w/ulcers
Most common bacteremia/pneumonia
S. aureus
Most common bacteria associated w/cancer
H. Pylori
Most common bacteria in GI
#1 Bacteriodes

#2 E. coli
Most common brain tumors (adults)
Mets
Astrocytoma (including GBM)
Meningioma
Schwannoma
Most common brain tumor (kids)
Medulloblastoma (cerebellum)
Most common supratentorial brain tumor (kids)
Craniopharyngioma
Most common breast cancer
Infiltrating ductal carcinoma

US: 1 in 9 women will develop breast cancer
Most common breast mass
Fibrocystic change

In post-menopausal women, carcinoma is the most common mass
Most common breast tumor (benign)
Fibroadenoma
Most common bug in debilitated, hospitalized pneumonia patients
Klebsiella
Most common primary cardiac tumor (adults)
Myxoma--ball and valve

4:1 left atrium

Ball and valve structure --> Blocking and syncopal episodes
Most common primary cardiac tumor (kids)
Rhabdomyoma

Biggest association: Tuberous sclerosis (Ash, Green, CardiacRhab, Astrocytoma, Renal Angiomyolipoma)
Most common cardiac tumor (adults)
Mets
Most common cardiomyopathy
Dilated
Most common chromosomal disorder
Down syndrome

Associations:
*ALL
*Alzheimer's disease
*Endocardial cushion defects
Most common chronic arrythmia
Atrial fibrillation

HIGH risk of emboli
Most common congenital cardiac anomaly
VSD
Most common constrictive pericarditis
TB
Most common coronary artery involved in thrombosis
LAD > RCA > LCA
Most common early cyanosis
Tetralogy of Fallot
Transposition of great vessels
Truncus arteriosus
Most common late cyanosis
VSD, ASD, PDA
Patent ductus arteriosus
Close w/indomethacin

Keep open w/misoprostol (PGE1)
Most common demyelinating disease
MS
Most common dietary deficit
Iron
Most common epiglottitis
H. influenzae type B
Most common esophageal cancer
Squamous cell carcinoma
Most common gene involved in cancer
p53
Most common group affected by cystic fibrosis
Caucasians
Cystic fibrosis complications
Fat soluble vitamin deficiencies

Mucous plugs --> Lung infections

Cholesterol gallstones
Gynecologic malignancy
Endometrial carcinoma
Most common heart murmur
Mitral valve prolapse
Most common heart valve in bacterial endocarditis
Mitral
Most common heart valve in bacterial endocarditis--IV drug abuser
Tricuspid
Most common heart valve affected by rheumatic fever
#1 Mitral valve
#2 Aorta
Most common helminth infection (US)
#1 Enterobius vermicularis
*Pinworm

#2 Ascaris lumbricoides
*Roundworm
Most common hereditary bleeding disorder
Von Willebrand's
Most common kidney stones
#1 Calcium --radiopaque

#2 Ammonium -- radiopaque
*Urea --> Ammonia
*Urease positive organisms such as Proteus, staphylococcus
Most common liver disease
Alcoholic
Most common location of brain tumors (adults)
Supratentorial
Most common location of brain tumors (kids)
Infratentorial
Most common lysosomal storage disease
Gaucher's

Glucocerebrosidase deficiency
Most common male cancer
Prostatic carcinoma
Most common malignancy associated w/noninfectious fever
Hodgkin's disease
Most common malignant skin tumor
Basal cell carcinoma (rarely mets)
Most common mets to brain
~50% of brain tumors are mets

Lots of Bad Stuff Kills Glia

Lung Breast Skin (melanoma) Kidney GI
Most common mets to liver
Liver metastases > Primaries

Cancer Sometimes Penetrates Benign Liver:

Colon > Stomach > Pancreas > Breast > Lung


or

Please Get Back to CoLorado

Pancreatic GI Breast Colon Lung
Most common neoplasm (kids)
#1 ALL
#2 Cerebellar medulloblastoma
Most common motor neuron disease
ALS
Most common nephrotic syndrome
Membranous glomerulonephritis
Most common obstruction of male urinary tract
BPH
Most common opportunistic infection in AIDS
Pneumocystis carinii pneumonia
Most common opportunistic infection in AIDS
Pneumocystis carinii pneumonia
Most common organ receiving mets
Adrenal glands (rich blood supply)
Most common organ sending mets
#1 Lung
#2 Breast and stomach (tied)
Most common ovarian tumor (benign)
Serous cystadenoma
Most common ovarian tumor (malignant)
Serous cystadenocarcinoma
Most common pancreatic tumor
Adenocarcinoma @ head of pancreas
Most common patient w/ALL
Child
Most common patient w/CLL
Adult >60
Most common patient w/AML
Adult > 60
Most common patient w/CML
Adult 35-50
Most common patient w/Hodgkin's
Young male

Except nodular sclerosis type-female
Most common patient w/minimal change disease
Young child
Most common patient w/Reiter's
Male
Most common pituitary tumor
#1 Prolactinoma
#2 Somatotropic "adicophilic" adenoma
Most common preventable cancer
Lung cancer
Most common primary bone tumor (adults)
Multiple myeloma
Most common primary hyper PTH
#1 Adenomas
#2 Hyperplasia
#3 Carcinoma

*Adrenal adenoma will cause insufficiency (AI), while a parathyroid adenoma will cause a plethora (hyper PTH)
Most common primary liver tumor
Hepatoma
Most common renal tumor
Renal cell carcinoma

Associations:

*Von Hippel-Landau

*Acquired polycystic kidney disease

*Paraneoplastic syndromes (distant neoplasm secretes erythropoietin, renin, PTH or ACTH)
Most common secondary hyper parathyroidism
Hypocalcemia of chronic renal failure
Most common sexually transmitted disease
Chlamydia
Most common site of diverticula
Sigmoid colon
Most common site of metastasis
#1 Regional lymph nodes

#2 Liver
Most common sites of atherosclerosis
The first stops from the heart (aorta, coronary arteries)

Knee and neck

#1 Abdominal aorta

#2 Coronary arteries

#3 Popliteal arteries

#4 Carotid arteries
Most common skin cancer
Basal cell carcinoma
Most common stomach cancer
Adenocarcinoma
Most common testicular tumor
Seminoma
Most common thyroid cancer
Papillary carcinoma

PAPillary has the biggest POP
Most common tracheoesophageal fistula
Lower esophagus joins trachea/upper esophagus --> blind pouch
Most common tumor in men
Prostate carcionoma
Most common tumor in women
Leiomyoma (estrogen dependent)
Most common tumor of infancy
Hemangioma
Most common tumor of the adrenal medulla (adults)
Pheochomocytoma (benign)

Chromaffin cells (neural crest) release NE/E, DA
Associated with MEN II, III

Treatment: Phenoxybenzamine (irreversible alpha 1 and 2 blocker)

10% bilateral
10% malignant
10% extra-adrenal
10% calcify
10% kids
10% familial

Symptoms = Spells of the 5 Ps:

Pain (headache)
Pallor
Palpitations
Perspiration
Pressure (BP)
Most common tumor of the adrenal medulla (children)
Neuroblastoma (malignant)

Tumors along the sympathetic chain

HVA found in urine

N-Myc gene
Most common type of Hodgkins
Nodular sclerosis

(vs. Mixed celularity, lymphocytic predominance, lymphocytic depletion)
Most common type of pituitary adenoma
Prolactinoma
Most common vasculitis
Temporal arteritis

Risk of ipsilateral blindness due to thrombosis of opthalmic artery
Most common viral encephalitis
HSV
Vitamin deficiency
Folic acid

Body stores only a 3-4 month supply

Pregnant women at high risk
Most frequent cause of Addison's disease
AI (Adrenal insufficiency) is AI (autoimmune)

#1 Autoimmune
#2 Infection
Most frequent cause of aneurysm, dissecting
Hypertension
Most frequent cause of aortic aneurysm, ascending
Tertiary syphilis
Most frequent cause of bacterial meningitis (adults)
Streptococcus pneumoniae
Most frequent cause of bacterial meningitis (elderly)
Streptococcus pneumoniae
Most frequent cause of bacterial meningitis (kids)
Streptococcus pneumoniae

Neisseria meningitidis
Most frequent cause of bacterial meningitis (newborns)
Groub B streptococcus
Most frequent cause of bacterial meningitis (newborns)
Groub B streptococcus
Most frequent cancers associated with AIDS
Kaposi's sarcoma

Malignant lymphoma (non-Hodgkins)
*True of all immunodeficiency states
Most frequent cause of congenital adrenal hyperplasia
21-hydroxylase deficiency
Most frequent cause of cretinism
Iodine deficit (hypothyroidism)
Most frequent cause of Cushing's syndrome
#1 Corticosteroid therapy

#2 ACTH secretion by pituitary
Most frequent cause of death in CML
Blast crisis
Most frequent cause of death in CML
Blast crisis
Most frequent cause of death in SLE
Lupus nephropathy
Most frequent cause of dementia
#1 Alzheimer's
#2 Multi-infarct dementia
Most frequent cause of DIC
#1 Gram-negative sepsis

#2 Obstetric complications

#3 Cancer

#4 Burn trauma
Most frequent cause of ejection click
Aortic/pulmonic stenosis
Most frequent cause of food poisoning
Staph aureus
Most frequent cause of glomerulonephritis
IgA nephropathy (Berger's disease)
Most frequent cause of epidural hematoma
Rupture of middle meningeal artery
Most frequent cause of subdural hematoma
Bridging veins (due to trauma)
Most frequent cause of hemochromatosis
Multiple blood transfusions

Increased risk of CHF, hepatocellular carcinoma
Most frequent cause of hepatic cirrhosis
Alcohol
Most frequent cause of hepatocellular carcinoma
Cirrhotic liver

Often associated w/Hep B, C
Most frequent cause of holosystolic murmur
#1 VSD

#2 Tricuspid regurgitation

#3 Mitral regurgitation
Most frequent cause of secondary hypertension
Renal disease
Most frequent cause of hypoparathyroidism
Thyroidectomy
Most frequent cause of hypopituitarism
Adenoma
Most frequent cause of infection in blood transfusions
Hepatitis C
Most frequent cause of infection in burn victims
Pseudomonas
Most frequent cause of leukemia (adults)
AML
Most frequent cause of machine-like murmur
Persistent ductus arteriosus
Most frequent cause of mental retardation
#1 Down syndrome

#2 Fragile X
Most frequent cause of MI
Atherosclerosis
Most frequent cause of mitral valve stenosis
Rheumatic heart disease
Most frequent cause of myocarditis
Coxsackie B
Most frequent cause of nephrotic syndrome (adults)
Membranous glomerulonephritis
Most frequent cause of nephrotic syndrome (kids)
Minimal change disease

Assoiated w/infections and vaccinations

Treat w/corticosteroids
Most frequent cause of opening snap
Mitral stenosis
Most frequent cause of osteomyelitis
S. Aureus

> Streptococcus, Neisseria
Most frequent cause of osteomyelitis in patient w/sickle cell disease
Salmonella
Most frequent cause of osteomyelitis with IV drug abusers and diabetics
Pseudomonas
Most frequent cause of acute pancreatitis
Alcohol and Gallstones
Most frequent cause of chronic pancreatitis in adults
Alcohol
Most frequent cause of chonic pancreatitis in children
Cystic fibrosis
Most frequent cause of peau d'orange
Carcinoma of the breast
Most frequent cause of PID
Neisseria gonorrhoeae

Associated w/monoarticular arthritis
Most frequent cause of hospital acquired pneumonia
Klebsiella
Most frequent cause of pneumonia in cystic fibrosis
Pseudomonas aeruginosa
Most frequent cause of pneumonia in burn infection
Pseudomonas aeruginosa
Most frequent cause of preventable blindness
Chlamydia
Most frequent cause of primary amenorrhea
Turner's syndrome
Most frequent cause of primary hyperaldosteronism
Adenoma of adrenal cortex
Most frequent cause of pulmonary hypertension
COPD
Most frequent cause of right heart failure due to a pulmonary cause
Cor pulmonale
Most frequent cause of sheehan's syndrome
Postpartum pituitary infarction due to hemorrhage
Most frequent cause of SIADH
Small cell carcinoma of the lung
Most frequent cause of UTI
E. coli (50-80%)
Most frequent cause of UTI in young women
E. coli
and
Staphylococcus saprophyticus
Sensitivity
Sensitivity =

True positives
-------------
True positives + False negatives
Specificity
Specificity =

True negatives
------------------
True negatives + False positives
Positive predictive value
PPV =

True positives
----------------
True positives + False positives
Negative predictive value
NPV =

True negatives
-------------------
True negatives + False negatives
Relative risk
Relative risk (applies in prospective studies)

Exposed w/disease
---------------------
Total exposed

/

Unexposed w/disease
------------------------
Total unexposed
Attributable risk
Exposed w/disease
---------------------
Total exposed

-

Unexposed w/disease
------------------------
Total unexposed
Hardy Weinberg equilibrium
p^2 + 2pq + q^2 = 1

p+q = 1
Henderson-Hasselbach equilibrium
pH =
pKa + log [HCO3-]/0.03 PCO2

[H+] =
24 PCO2
-----------
[HCO3-]
Volume of distribution
Vd =

Amount of drug in the body
--------------------------------
Plasma drug concentration
Clearance
Cl =

Rate of elimination of the drug
-----------------------------------
Plasma drug concentration
Half-life
t 1/2 =

0.7 x Vd
---------
Clearance
Loading dose
LD =

Cp x Vd/F
Maintenance dose
MD =

Cp x CL/F
Cardiac output
CO = HR x SV

CO =

Rate of O2 consumption
-----------------------------
Arterial O2 - Venous O2
Mean arterial pressure
MAP = CO x TPR

MAP = 1/3 systolic + 2/3 diastolic
Stroke volume
SV =

End disatolic volume
-
End systolic volume
Ejection fraction
EF =

End diastolic volume
--------------------- x 100%
End systolic volume

Normally >55%
Resistance
R =

Driving pressure
-------------------
Flow


R =

8 x viscosity x length
------------------------
Pi x r^4
Net filtration pressure
Pnet =

net Hydrostatic P - net Osmotic P


Net ~ Capillary P - Interstitial P
Glomerular filtration rate
Inulin: GFR = UV / P

GFR = K[(Pgc-Pbs) - (Tgc-Tbs)]

U = Urine concentration
V = Urine flow rate
P = Plasma concentration
Effective renal plasma flow
PAH: ERPF = UV/P
Renal blood flow
RBF = RPF / 1-Hct
Filtration fraction
FF = GFR/RBF
Free water clearance
H2O clearance =

Urine volume - Osmole clearance
Physiologic dead space
Vd =

Vt x (PaCO2 - PeCO2)
--------------------------
PaCO2

PaCo2 = Arterial
PeCo2 = Expired CO2
Vitamin A: Alternative name
Retinol
Vitamin B1: Alternative name
Thiamine
Vitamin B2: Alternative name
Riboflavin
Vitamin B3: Alternative name
Niacin
Vitamin B5: Alternative name
Pantothenate
Vitamin B6: Alternative name
Pyridoxine
Vitamin B12: Alternative name
Cobalamin
Night blindness

Dry skin
Vitamin A deficiency
Flu-like symptoms (arthralgia, fatigue, headache, sore throat)

Alopecia and other skin changes
Vitamin A excess
Vitamin A: Source
Leafy vegetables
Vitamin A: Function
Constituent of visual pigments (retinal)
Vitamin B1: Function
COFACTOR

HMP shunt: Transketolase cofactor

As TPP (thiamine pyrophosphate), a cofactor for:
1. Branched chain AA dehydrogenase

2. Oxidative decarboxylation of Pyruvate and Alpha-ketoglutarate
Vitamin B1: Deficiency
BeriBeri (Ber1Ber1) and Wernike-Korsakoff syndrome
*Alcoholism
*Malnutrition

Dry beriberi:
Symmetrical muscle wasting
Polyneuritis

Wet beriberi:
High output cardiac failure
Edema
High output cardiac failure

Edema
Wet beriberi
Vitamin B2: Function
Oxidation, reduction yielding 2 ATP:
*FADH2 (oxidation, reduction)
*FMN
Cheilosis (inflammation of the lips)

Corneal vascularization
Vitamin B2 Deficiency
Vitamin B3: Function
Oxidation, reduction yielding 3 ATP:
*NAD
*NADP
Niacin synthesis
Made from tryptophan

REQUIRES vitamin B6
Diarrhea

Dermatitis

Dementia
The 3D's of pellagra

Vitamin D deficiency
Causes of B3 deficiency
INHer Car

INH (decreases vitamin B6)

Hartnup disease (tryptophan absorption)

Carcinoid syndrome (uses tryptophan to make serotonin)
Dermatitis, Alopecia

Enteritis

Adrenal insufficiency
Vitamin B5

No pantene? No hair (also true of vitamin A deficiency)
Vitamin B5 function
1. Pantothen-A-te is in Co-A
*CoA used for ACYL transfers

2. Component of fatty acid synthase
Vitamin B6 function
Pyridoxine--At the DOX, the NICE guy got THuGeD (THGD)

1. Required for NIACIN synthesis from tryptophan

2. Becomes pyridoxal phosphate (cofactor):
*Transamination (AST, ALT)
*Heme synthesis
*Glycogen phosphorylase
*Decarboxylations
Hyperirritability
Convulsions
Peripheral neuropathy
Vitamin B6 deficiency

Causes:
*INH
*Oral contraceptives
Vitamin B12 function
1. Cofactor for HOMOCYSTEINE METHYLTRANSFERASE
*Converts homocysteine --> Methionine
*Folate also takes part in this rxn

2. Cofactor for METHYLMALONYL-COA MUTASE
*Converts methylmalonyl-CoA --> Succinyl-CoA
Macrocytic, megaloblastic anemia

Neurological symptoms
B12 deficiency

Spinal cord demyelination:
*Changes in dorsal columns
*Changes in spinothalamic tract
*May be due to decreased methionine (unable to build myelin proteins) or excess methylmalonic acid (toxicity)

Primarily stored in liver (several years worth)

Causes:
*Malabsorption
*Lack of intrinsic factor
*Absence of terminal ileum (Crohn's)
Most common VITAMIN deficiency in the US
Folic acid
Macrocytic, megaloblastic anemia
Folic acid deficiency

No neurologic symptoms
Folic acid source
Leafy greens

FOLate from FOLiage
B12 from BUFFALO
Folic acid supply
Months
Folic acid: Function
As THF:

1. Participates in the conversion of HOMOCYSTEINE to METHIONINE

2. DNA, RNA synthesis (nitrogenous bases)
Dermatitis

Enteritis
Biotin deficiency

Causes:
1. Raw egg consumption: Avidin in egg whites AVIDly binds biotin

2. Antibiotics
Biotin: Function
PAM in the PM when making eggs

Carboxylations

P = Pyruvate --> Oxaloacetate
AM = Acetyl-CoA --> Malonyl-CoA
PM = Propional-CoA --> Methylmalonyl CoA
Swollen gums

Bruising, anemia, poor wound healing
Vitamin C deficiency (scurvy)

CDE:
Collagen --> Hydroxylation of proline and lysine

Dopamine-B-hydroxylase (converts DA to NE)

Electrons on iron (keeps it reduced for good absorption)
Vitamin C function
Collagen --> Hydroxylation of proline and lysine

Dopamine-B-hydroxylase (converts DA to NE)

Electrons on iron (keeps it reduced for good absorption)
Vitamin D function
D2 = Ergocalciferol (milk)
D3 = Cholecalciferol (sun)
*Get D3 standing next to a tree

Liver: D2/D3 --> 25-OHD (storage)
Kidney: 25-OHD --> 1,25-OHD (active)
Hypocalcemic tetany: Nutritional cause
Vitamin D deficiency
Loss of appetite
Stupor
Excess Vitamin D

Seen in sarcoidosis (converts vitamin D to active form)
Vitamin E function
Antioxidant
Fragile erythrocytes

Neurodysfunction
Vitamin E

"E is for erythrocytes"
Vitamin K function
Synthesized by INTESTINAL FLORA

K for Koagulation
K for Karboxylation

Catalyzed Gamma carboxylation of Glutamic acid residues on clotting factors 2, 7, 9, 10 + proteins C and S
Increased PT: Nutritional cause
Vitamin K deficiency

Causes:
*Neonate = Sterile intestines
*Adult antibiotic use
Hair loss (axillary, facial pubic)

Hypogonadism

Delayed wound healing
Zinc deficiency

Bone marrow transcription factor

Testosterone transcription factor

Alcohol dehydrogenase transcription factor
Ethanol metabolism
Ethanol --> Acetaldehyde --> Acetate

1. Alcohol dehydrogenase
*Fomepizole: Methanol, ethylene glycol antidote
*ZERO order kinetics (not concentration dependent)

2. Acetaldehyde dehydrogenase
*Disulfram

Both reactions produce NADH
NAD is the LIMITING REAGENT
What alcohol processing enzyme has zero order kinetics?
Alcohol dehydrogenase
What is the limiting reagent in alcohol processing?
NAD+
Kwashiorkor
Results from protein-deficient MEALS:
*Malnutrition
*Edema
*Anemia
*Liver (fatty)
*Swollen belly
Marasmus
Energy malnutrition

Tissue and muscle wasting
Loss of subcutaneous fat
Variable edema
Ethanol hypoglycemia and fatty liver
High NADH/NAD ratio causes:

1. Pyruvate to be shunted to lactate (inhibits gluconeogenesis)

2. OAA to be shunted to malate (inhibits gluconeogenesis)

3. Liver: Glycolysis intermediates to be shunted to FA synthesis (fatty liver)

GLUCONEOGENESIS INHIBITED
Nucleosome
2 each of H2, H3, H4, H5

Wrapped twice by DNA
Heterochromatin
Transcriptionally inactive

Condensed
Euchromatin
Transcriptionally active

Not as condensed
Purines
PURe As Gold --> A, G
Pyrimidines
CUT the PY --> C, U, T

1 ring
Uracil = RNA
Thymine = DNA
High level of G-C bonds
Higher melting point

G-C associations have 3 hydrogen bonds
Which nucleotide has a ketone?
Guanine

"GOLD key"
Which nucleotide has a methyl?
Thymine

"THYmine has a meTHYl"
Amino acids necessary for purine synthesis
Pure ppl make you GAG:

Glycine --> Icing
Aspartate --> Sparring/fighting
Glutamine --> Gluttony
Antibiotics, antivirals and anti-fungals to avoid in pregnancy
SAFE Moms Take Really Good Care

Sulfonamides --> Kernicterus
*Yellow like sulfer

Aminoglycosides --> Ototoxicity, teratogen

Fluoroquinolones --> Cartilage

Erythromycin (acute cholestatic hepatitis in mom) + clarithromycin (embryotoxic)

Metronidiazole--mutagenesis
*M&M

Tetracyclines--discolored teeth, inhibition of bone growth

Ribavirin -- teratogenic
*RSV, HCV

Griseofulvin--teratogenic
*Antifungal
*Also carcinogenic

Chloramphenicol--"chrome" (gray) baby
*Low URP-uridyl transferase in premies
Oocyte development
Primary oocytes are in PROPHASE 1

Secondary oocytes are in METAPHASE II

Primary oocytes become secondary oocytes @ovulation (leave prOphase to Ovulate)

Secondary oocytes become Ova w/sperm entry (leave METaphase when they MEET a sperm)

No tetrads formed until after ovulation
I band
Actin-only portion of the sarcomere

Shortens w/contraction
H band
Myosin only portion of the sarcomere

Shortens w/contraction
A band
Entire length of the myosin filament

Does NOT shorten w/contraction
Sarcomere: Myosin measurements
"My-son? HA!"

H band: Myosin only

A band: Entire myosin length (constant)
*A ~ ALL of the myosin
Premature heart beats are stronger/weaker than on-time ones
Weaker

Less time for filling --> decreased preload

Less time for Ca2+ in sarcoplasmic reticulum to get to RELEASE SITE
Prevalence
Prevalence =

Total cases in population at a given time
---------------------------------
Total population at risk
Incidence
Incidence =

New cases in population over a given period
-----------------------------------
Total population at risk for a new case
Systematic error
Reduced accuracy/validity
Random error
Reduced reliability/precision
Selection bias
Non-random assignment to a study group
Recall bias
Altered recall

Ex. Knowledge of presence of a disorder alters what is remembered
Sampling bias
Subjects are not representative to the general pop
Late-look bias
Information gathered at an inappropriately late time
Procedure bias
Subjects in different groups are not treated the same
Positive/negative skew
Wherever the tail is going

Positive = Positive tail
Mean > Median > Mode

Negative = Negative tail
Mean < Median < Mode
Standard error of the mean
Used to calculate CI

Standard deviation
-----------------------
(n)^1/2
CI
Mean +/- 1.96 (SE)

SE =
Standard deviation
-----------------------
(n)^1/2
Reportable diseases
Hep, Hep, Hep, Hooray, the SSSMMART CHICK is GONe

Hep A
Hep B
Hep C
HIV

Salmonella
Shigella
Syphilis
Measles
Mumps
AIDs
Rubella
TB

Chickenpox
Gonorrhea

Hep C and HIV might be exceptions in some states
Leading causes of death 65+
Heart disease
Cancer
Stroke
COPD
Pneumonia
Influenza
Leading causes of death 25-64
CHISSeling away at life

Cancer
Heart disease
Injuries
Suicide
Stroke

*#1 and #2 are reversed for the 65+ crowd

*Oldest group to feature injuries and suicide
Leading causes of death 15-24
I finished HS and went to a College House (I HS CH)

Injuries
Homicide
Suicide
Cancer
Heart disease

Injuries, homicide, suicide precede the top 2 for adults 25-64
Cancer
Heart disease
Leading causes of death 1-14
I have an ICCHH

Injuries
Cancer
Congenital anomalies
Homicide
Heart disease
Leading causes of death in infancy
CLoSe your mouth, MR
(CLS MR)

Congenital anomalies
Low birth weight/short gestation
SIDS
Maternal complications
RDS
Therapeutic privilege
Witholding info when disclosure would severely harm the patient or undermine decision-making capacity
Usually required unless
Usually required unless:

1. Married or otherwise emancipated

2. Emergency situation

3. Treating STDs, providing counsel or contraception

4. Medical care during pregnancy

5. Management of drug addiction
APGAR score
Evaluated at 1 minute and 5 minutes
*Each category: 0-2 points

Appearance
*Blue --> Pink trunk --> All pink

Pulse
*None --> <100 /> >100/min

Grimace
*None --> Grimace --> Grimace + cough

Activity
*Limp--> Some --> Active

Respiration
*None--> Irregular --> Regular
Complications of low birth weight
<2500 g

TIRNIP

Tiny tots

Infections

RDS

Necrotizing entercolitis
*No bacterial colonization ~ mucosal necrosis, esp in colon
*Possible perforation

Intraventricular hemorrhage

Persistent fetal circulation
Motor milestone: Birth
Rooting reflex
Milestones: 3 mo
3 things

Motor:
*Holds head up
*Moro reflex desappears

Social:
*Social smile
Milestones: 4-5 mo
Propping (and rolling)
People

Motor:
*Rolls front to back
*Sits when propped

Social:
*Recognizes peopl
Milestones: 7-9 mo
Seven - 4 S's

Sit
Scoots (or crawls)
Stranger anxiety
Spins around to see you (orients)

Motor:
*Sits alone
*Crawls

Social:
*Stranger anxiety
*Orients to voice
Milestones: 12-15 mo
12-14 mo: Babinski disappears

15 mo: Can walk, but doesn't want to YOU to (walk away)
*Walks
*Separation anxiety
*A few words
Milestones: 3 years
Lots of 3's

Motor:
*Stacks 9 blocks --> 3x3 years
*Rides tricycle --> 3 wheels
*Copies line or circle drawing

Social:
*Toilet training --> "Pee at 3"
*Core gender identity (2-3 yr)
*900 words
*Complete sentences
Milestones: 4 years
1. Can draw and play hopscotch
2. Can play w/others (even imaginary ones)
3. Can get ready for school (grooming)

Motor:
*Simple drawings (stick figure)
*Hops on 1 foot

Social:
*Parallel play (2-4)
*Cooperative play
*Imaginary friends
*Grooms, brushes teeth
Milestones: 6-11 years
Reading

Understands death
Conscience

Same-sex friends
Identification w/same-sex parent
Milestones: Adolescence
Boys ~ 13
Girls ~ 11

Abstract reasoning
Formation of personality
Tanner stages
1= Childhood

2= Pubic hair begins to develop
*Men: Testes
*Women: Breast tissue elevation

3 = Pubic hair darkens, curls
*Men: Penile length

4 =
Men: Penile width, glans development
Women: Raised areolae

5 = Adult
*Areolae no longer raised
BMI
Weight in kg
---------------
Height in m^2

< 18.5 = Underweight
> 30 = Obese
Sleep stages
BATS Drink Blood

Awake: High freq, low amp
BETA: Alert
ALPHA: Eyes closed

Sleep:
THETA waves: 5%

SLEEP spindles + K complex: 45%

DELTA: 25%
*Low freq, high amp

BETA: 25%
*Sawtooth waves
*Variable pulse, BP
*Occurs every 90 min
*Ach based -- REMACH 9000
Xeroderma pigmentosum
Defect in nucleotide excision repair system

Unable to repair thymidine dimers created by UV light
HNPCC: Mutation type
DNA mismatch repair system

Enzymes can tell old vs. new based on what has been methylated (old ones)
Death cap mushroom poison
Alpha-amantin

Inhibits RNA polymerase II (mrna)
Prokaryotic vs. Eukaryotic ribosome
PrOkaryotes: 30 + 50 = 70

Eukaryotes: 40 + 60 = 80
*Even
Energetics of mRNA synthesis
ATP = tRNA ACTIVATION (loading)
*2 phosphate bonds (AMP)

GTP = GRIPING (ribosome) and GOING
*1 GTP to bind A site
*1 GTP to translocate

= 4 Phosphate bonds per AA
Rb and P53 prevent ___ to ___ transition
G1 to S

Because after DNA replicates, division is imminent

Rb (13q mutation): Retinoblastoma
Osteosarcoma

p53 (17p mutation):
Most human cancers
Li-Fraumeni syndrome
*Sarcoma before 45 + cancer under 45 (or sarcoma) in a first degree relative
I cell disease
Often fatal in childhood

In GOLGI, failure of addition of mannose-6-phosphate to lysosome proteins

Lysosomal proteins secreted outside cell...

Coarse facial features
Clouded cornea
Restricted joint movement (inflammation)
Drugs that act on microtubules
Mebendazole/thiabendazole (antihelminthic)

Paclitaxel (Taxol) --> Inhibits tubule breakdown

Griseofulvin (anti-fungal) --> Fungal cell wall

Vincristine/Vinblastine --> Inhibits microtubule formation

Colchicine (anti-gout) inhibits WBC taxis
Kartagener's syndrome defect
Dynein arm

Infertility
Bronchiectasis
Recurrent sinusitis
Situs invertus
Actin and myosin
MAC'kin the MUSCLE

Microvilli
Adherens junctions
Cytokinesis

Muscle contraction
Intermediate filaments
DC VeGaN
*Progressively squishier

Desmin --> Muscle
Cytokeratin --> Epithelial cells

Vinmentin --> Connective tissue
GFAP --> Neuroglia
Neurofilaments --> Neurons
Collagen
Be So Totally Cool, Read Baby Books

Collagen I (90%): Bone, skin, tendon

Collagen II: Cartilage

Collagen III: Reticulin--Blood vessels
*Also, baby ~ uterus, fetal tissue

Collagen IV: Basement membrane or basal lamina
*Glomerulus, lung, lens
Collagen synthesis
Pre-procollagen = Singles
Procollagen = Unmodified triple
Tropocollagen = Trimmed triple
Collagen = Cross-linked triple

RER:
1. Alpha chains synthesized
2. Hydroxylation: Proline, lysine
*VITAMIN C
3. Glycosylation: Lysines
4. Triple helix formation
5. Secretion

Outside cell:

6. Cleavage of terminal regions
7. Cross-linking: Lysine, hydroxylysine
*Lysyl oxidase
Ehlers Danlos
Faulty collagen synthesis (no X-linking)

Type III usually affected
*Blood vessel instability (bleeder)
*Berry aneurysms
*Stretchy skin
*Hyperextensible joints
Malate-aspartate shuttle
Heart and liver

32 ATP
Glycerol-3-phosphate shuttle
Muscle

30 ATP
What transfers methyl units?
S-adenosyl-methionine (SAM)

ATP + Methionine --> SAM
NADPH: Functions
Anabolic processes

P-450 activation

Respiratory burst (NADPH oxidase)
Hexokinase vs. Glucokinase
Both catalyze:
Glucose --> Glucose-6-P

Hexokinase: Ubiquitous
*High affinity
*Low capacity
*G6P feedback inhibition

gLucokinase: Liver and B cells of pancreas
*Phosphorylates glucose after a meal to SEQUESTER it in the liver
*Low affinity --> NO FEEDBACK
*High capacity
*Induced by insulin
What regulates hexokinase?
(-) Glucose 6P

Glucose --> Glucose 6-P
What regulates phosphofructokinase-1?
(+) Fructose 2,6 BP (PFK-2--fed state)
(-) ATP, Citrate

Fructose-6P --> Fructose 1,6 BP
What regulates pyruvate kinase?
(+) Fructose 1,6 BP
(-) ATP, alanine

PEP --> Pyruvate
What regulates pyruvate dehydrogenase?
(-) ATP, Acetyl CoA, NADH

Pyruvate --> Acetyl CoA
Glycolytic enzyme deficiency
Hemolytic anemia from Na/K pump stalling in RBC

Pyruvate kinase
Pyruvate dehydrogenase complex
B1, B2, B3, B5
+
Lipoic acid
Arsenic
Vomiting
Rice water stools
Garlic breath
Pyruvate dehydrogenase deficiency
Lysine + Leucine (only purely ketogenic AAs)
TCA cycle
Citrate Is Kreb's Starting Substrate for Making Oxaloacetate

Per cycle (2x for glucose)
3 NADH, 1 FADH, 1 GTP
2 CO2

Isocitrate --> CO2, NADH
Alpha keto --> CO2, NADH
Succinyl CoA --> GTP, CoA
Succinate --> FADH2
Malate --> NADH
Gluconeogenesis enzymes
PPFG: Pathway Produces Fresh Glucose

Pyruvate carboxylase
*Pyruvate --> OAA
*Happens w/backup of TCA cycle (high levels of Acetyl-CoA)
*Requires ATP -- no GNG w/o E to spare
*Requires BIOTIN

PEP carboxykinase
*OAA --> PEP
*REQUIRES GTP (2nd check of energy to spare)

Fructose 1,6 bisphosphatase
*Fructose 1,6 BP --> Fructose 6P

Glucose 6 phosphatase
*Glucose 6P --> Glucose
G6PD
More prevalent among blacks
X-linked recessive

Heinz bodies: Hb precipitates within RBCs

Bite cells: Phagocytes remove Heinz bodies from RBCs

Cell does a poor job of keeping glutathione reduced

Oxidative damage to RBCs --> Hemolytic anemia

Common causes:
*Fava beans
*TB drugs
*Sulfonamides, primaquine
Fructose intolerance
AR deficiency of ALDOLASE B

Buildup of fructose-1-phosphate
*Steals/incapacitates tons of phosphate: as a result, inhibition of glucose pathways (glycogenolysis, gluconeogenesis)

Symptoms:
*Vomiting
*Hypoglycemia
*Cirrhosis, jaundice

Treatment: Avoid fructose and SUCROSE (fructose + glucose)
Essential fructosuria
Defect in FRUCTOKINASE
1st enzyme in fructose pathway

Fructose does NOT enter cells --> only seen in blood in urine

Benign, asymptomatic condition
Galactosemia
AR absence of GALACTOSE-1-P URIDYLTRANSFERASE

Pathway backup --> Toxic substances including galactitol (toxic)

Hepatosplenomegaly
CATARACTS (Gonna "lack" seeing much")
MENTAL RETARDATION

Treatment: Exclude galactose + lactose (glucose + galactose) from diet
Galactokinase deficiency
Causes galactosemia, galactosuria

Galactitol accumulation --> Toxicity, but not as severe as Galactosemia
Acidic amino acids
The "tates"

Aspartate
Glutamate
Basic amino acids
Histidine
Lysine
Arginine

HISTIDINE LYS (ARG)! It's not positive/basic in the body

That's why LYSINE and ARGININE are the dominant AAs in histones (+ charge to attract - DNA).
Gluconeogenic AND Ketogenic essential amino acids
PITT (everybody likes him)

They all end in "ine"

Phenylalanine
Isoleucine
Tyrosine
Threonine
Gluconeogenic essential amino acids
The most wasteful in terms of E: HAM-V

Or: HAm for growing kids
*Histidine, arginine needed during periods of growth

Histidine
Arginine
Methionine
Valine
Urea cycle
Excretes excess nitrogen

Ordinarily, Careless Crappers Are Also Frivolous About Urination

Ornithine + Carbamoyl phosphate (i)
*Acted on by Ornithine transcarbamoylase
*Happens in mitochondrion (all other steps = cytoplasm)

Citrulline + Aspartate (i)
*Acted on by arginossucinate synthetase

Arginosuccinate
*Acted on by arginosuccinate synthetase

Fumarate (o) + Arginine
*Acted on by arginase

Urea (o)
*Made from arginine + H2O (via arginase)
Derivatives of phenylalanine
Pound The Darn Donut No Earlier Than Mid-morning

Pound = Phenylalanine
The = Tyrosine --> THYROXIN
Darn = Dopa --> MELANIN
Donut = Dopamine
No = NE
Earlier = Epinephrine
Than = THYROXINE
Mid-morning = MELANININ
Phenylketonuria
Incidence: 1/10,000
*Screened for at birth

Problem w/Phe --> Tyrosine either:
1. Phe hydroxylase defect
2. THB defect (reduces Phe using Phe hydroxylase as catalyst)

Results:
*Tyrosine becomes essential
*Phe buildup --> Phenylketones in urine

Findings:
*Musty body odor --> AROMATIC defect
*Retardation, eczema --> Phe buildup
*Growth retardation --> Thyroxine
*Fair skin --> Melanin
Alkaptonuria
A.k.a. Ochonosis

Dark urine --> Like peeing "KAPTAN" (morgan)

The captain was a TYRant (tyrosine)

Congenital deficiency of HOMOGENTISIC ACID OXIDASE

Used to degrade TYROSINE

Buildup of alkapton bodies:
*Urinary excretion (urine turns black)
*Joint deposition (dark CT, +/- arthralgia)

Considered a benign disease
Albinism
Congenital deficiency of either:
1. Tyrosinase (AR): Tyr --> Melanin
2. Defective tyrosine transporters

Possible mechanism: Poor neural crest migration

Increased risk of skin cancer
Variable inheritance (locus heterogeneity)
Homocystinuria
Homocysteine has 2 breakdown pathways:
1. Cystathionine synthase
*Homocysteine --> Cystathionine --> Cysteine
*Requires B6

2. Homocysteine methyltransferase
*Homocysteine --> Methionine
*Requires B12/folate

**3 forms of disease:**

1. Deficient cystathionine synthase
*Decrease dietary MET, increase CYS
*Increase dietary B12/folate

2. Inefficient cystathionine synthase (doesn't bind B6 well)
*Increase dietary B6

3. Deficient homocysteine
methyltransferase

Result:
*Excess homocysteine
*Cysteine becomes essential
*MENTAL RETARDATION
*Bone problems: Tall stature, osteoporosis, kyphosis
*Vessel problems (stroke, MI)
*Lens subluxation (down and in)
Cystinuria
Common 1/7000

Inherited defect of RENAL TUBULAR ABSORPTION in PCT

+ AA Transporter (NH3+): Histidine, lysine, arginine, ornithine, CYSTINE
*Excess cystine in urine

Complications: Cystine kidney STONES
*Treat w/acetazolamide to alkalinize urine, prevent precipitation

Cystine = 2 cysteines connected by disulfide bond
Stones and pH
If it has a C in it, precipitates in ACIDIC urine

Ca2+
Uric acid
Cysteine
Maple syrup urine disease
Decreased alpha-KETOACID DEHYDROGENASE

Blocked degradation of branched amino acids
*I Love Vermont maple syrup: Isoleu, LEU (most buildup), Val
*Urine smells like maple syrup

Complications:
*Mental retardation
*CNS defects
*Death
Maple syrup urine disease
Decreased alpha-KETOACID DEHYDROGENASE

Blocked degradation of branched amino acids
*I Love Vermont maple syrup: Isoleu, LEU (most buildup), Val
*Urine smells like maple syrup

Complications:
*Mental retardation
*CNS defects
*Death
Lesch-Nyhan
X-linked recessive
HGPRT: "He's got purine recovery trouble"

Absence of HGPRT--> purine salvage
*Hypoxanthine --> IMP
*Guanine --> GMP

Result: Excess uric acid production

Results:
Mental: Retardation, self-mutilation, aggression (Lesch I lay a hand on you), choreoathetosis

Urinary: Hyperuricemia, gout
Adenosine deaminase deficiency
Adenosine --> Inosine
*Related to purine breakdown pathway
*Backup ~ excess ATP, dATP

Excess ATP, dATP causes feedback inhibition of RIBONUCLEOTIDE REDUCTASE
*Less new nucleotides made for DNA syn

*Rapidly multiplying tissues like marrow are affected --> Decreased LYMPHOCYTE COUNT (SCID--B and T cells)
Insulin
DEphosphorylates glycogen synthatse

Required for skeletal MUSCLE and ADIPOSE uptake of glucose

Synthesized in pancreatic BETA cells (buh-bye, glucose) from pro-insulin
*By product = C-PEPTIDE

Effects:
1. Glucose transport
2. Glycogen/TG/Protein synthesis
3. Na RETENTION (kidneys)
*Concurrent cellular UPTAKE of K+ (to match increased extracellular Na_)
GLUT 1 Transporter
RBCs
Brain

Not responsive to insulin
GLUT 2 Transporter
Bidirectional
Things which sample (islet), reabsorb (kidney), absorb (GI) or produce (liver) glucose

B islet cells
Liver
Kidney
GI enterocytes (blood side)

Not Insulin responsive
GLUT 4 Transporter
Muscle
Adipose

INSULIN RESPONSIVE
Things which don't need insulin for glucose intake
BRICK Layer

Brain
RBCs
Intestine
Cornea
Kidney

Liver
Von Geirke's Disease
Type 1 glycogen storage disease

Problem with
GLUCOSE 6 PHOSPHATASE

1. No gluconeogenesis

2. G1P from glycogen phosphorylase gets stuck at G6P

3.Glucose from limit dextran metabolism (debranching enz) and lysosomal acid maltase pathway can be trapped if phosphorylated by Glucokinase

Poor delivery to tissues:
*Severe hypoglycemia
*Increased blood lactate

Backup of glycogen in liver: hepatomegaly
Pompe's Disease
Deficiency of LYSOSOMAL ACID MALTASE (1,4 glucosidase)
*POMPOUS: the VIP/fast track enzyme

Trashes the PUMP
*Heart and other muscle --> Cardiomegaly, weakness
*Liver damage
Cori's disease
Deficiency of DEBRANCHING enzyme

Like mild Von Geirke:

Mild hypoglycemia
*But NORMAL blood lactate
*But gluconeogenesis intact

Some glycogen buildup, hepatomegal
McArdle's disease
Deficiency of GLYCOGEN PHOSPHORYLASE in skeletal MUSCLE

Increased glycogen in muscle
Strenuous exercise: Cramps, myoglobinuria
Lysosomal storage disease: Tay sachs
*AR deficiency of HeXosaminidase A (Tay SaX)

GM2 ganglioside -> GM3 -> glucocerebroside

Neural degeneration
CHERRIES AND ONIONS:
*Cherry red spot
*Onion skin lysosomes
Lysosomal storage disease: Fabry's
F = Female chromosome transmission
A = Alpha galactosidase
B = Blood vessels (CV, renal)
R = RASH (angiokeratoma)
Y = 3 lines (Ceramide TRIhexoside)

X-RECESSIVE deficiency of ALPHA-GALACTOSIDASE A

Ceramide trihexoside --> Glucocerebroside

Vascular issues leading to:
*Cardiovascular, renal disease
*Peripheral neuropathy
*ANGIOKERATOMA (unique)
Gaucher's
AR deficiency of B-GLUCOCEREBROSIDASE

Gluco cerebroside --> Ceramide

OUCHER'S disease:
*Aseptic necrosis of femur, bone crises
*Macrophages = Crumpled tissue paper
Neimann-Pick
AR deficiency of SPHINGOMYELINASE
*"Noman picks his nose w/his sphinger"

Spingomyelin --> Ceramide

A lot like Tay-Sachs:
*Neurodegeneration
*CHERRY red spot
*FOAM cells

Cherries + Onions (T-S) vs.
CHERRIES + WHIPPED CREAM (which would you PICK?)
Metachromic leukodystrophy
AR deficiency of Arylsulfatase A
*Sounds like ARICEPT

Sulfatides/Cerebroside sulfate --> Galactocerebroside

DEMENTIA
Peripheral neuropathy (DEMYELINATION) --> Ataxia
Krabbe's
AR deficiency of Galactocerebrosidase

Galactocerebroside --> Ceramide

"A slow Krabbe w/little eyes"

Peripheral neuropathy
DEVELOPMENTAL DELAY
OPTIC ATROPHY
GLOBOID CELLS (like eyes)
Lysosomal storage dieases: Mucopolysaccharidoses (2)
Both cause buildup of heparan sulfate, dermatan sulfate

Hurler's syndrome: AR
*Alpha-L-iduronase
*Gargoyle on a ledge (trying to get fresh air) that can't see (clouding)...hopefully won't HURL him/herself off
*Gargoyle face
*Airway obstruction
*Corneal clouding
*Developmental delay

Hunter's syndrome: XR
*Iduronate sulfatase
*Mild Hunter's but NO CORNEAL CLOUDING
*Good HUNTERS need to see clearly
*AGGRESSIVE BEHAVIOR

*Lesch-Nyhan and Hunter's are XR diseases of developmental delay and aggression
What brings Acetyl-CoA out of the mitochondrion for FA synthesis?
Citrate shuttle

SYtrate = Synthesis
What brings Acyl-CoA (long chain Fatty acids) into the mitochondrion for continued FA breakdown?
Carnitine shuttle

CARnitine = CARnage of fatty acids

Carnitine deficiency = Inability to utilize LCFAs + toxic accumulation
Ketone bodies
ACETOACETATE
B-HYDROXYBUTYRATE

Made from HMG-CoA in liver
Acetyl-CoA -> Acetoacetyl-CoA -> HMG-CoA

Production stimulated by shut-down of TCA cycle (depletion of **OAA**)
1. Starvation
2. Diabetic ketoacidosis
3. Alcohol-related NADH (shunts OAA to malate)

Breath smells fruity (acetone)
Urine test for ketones does not detect...
B-hydroxybutyrate
Rate limiting step of cholesterol synthesi
HMG-CoA reductase

Inhibited by statins
HDL
Mediates cholesterol transport from periphery to liver

Acts as a repository for Apo C-II and Apo E
*Gives ApoE and C-II to chylomicrons and VLDL
*Takes C-II from IDL
*Takes ApoE from LDL

Secreted from both liver AND intestine
B-100
Lipoproteins originating from liver
(chylomicrons have B-48 for secretion)

Aids in VLDL secretion
Binds LDL receptor (even better w/ApoE)

VLDL
IDL
LDL
C-II
COFACTOR for LPL

TG delivery:

Chylomicrons
VLDL
Signs of high cholesterol
AAX

Caused by excess LDL

Atherosclerosis

Arcus cornae --> White or gray opaque ring in the corneal margin

Xanthomas --> Yellowish cholesterol deposits
*Cholesterol-laden histiocytes
*Can deposit in tendons
Signs of high triglycerides
LEPtin

Lipema retinalis (>2000)
*Excess chylomicrons
*Veins and arteries of the retina appear milky

ERUPTIVE xanthomas (>2000)
*Excess chylomicrons

Pancreatitis (>1000)
*Excess VLDL or Chylomicrons
Hyperchylomicronemia
Excess chylomicrons

C-II/LPL reaction not working well:
*LPL deficiency
*Altered C-II

HYPER-TRIGLYCERIDE symptoms
*Lipemia retinalis, Eruptive xanthoma, Pancreatitis

Cholesterol also elevated
Hypercholesterolemia

(Type 2a familial dyslipidemia)
Excess LDL

Decreased LDL receptors

Elevated cholesterol
*Arcus senilis/corneae
*Atherosclerosis
*Xanthomas
Hypertriglyceridemia

(Type 4 familial dyslipidemia
Excess VLDL due to liver overproduction

Elevated TG's
*Pancreatitis
Heme synthesis
Succinyl-CoA + Glycine --> ALA
*ALA synthase
*Requires B6

ALA --> Porphobilinogen
*ALA dehydratase
*Inhibited by LEAD

Porphobilinogen ->-> Pre-uroporphyrinogen
*Porphobilinogen deaminase
*ACUTE INTERMITTENT PORPHYRIA

Uroporphyrinogen III --> Co-pro-porphyrinogen
*Uroporphyrinogen decarboxylase
*PORPHYRIA CUTANEA TARDA

Protoporphyrin + Fe2+ --> Heme
*Ferrochelatase
*Inhibited by LEAD
Lead poisoning
1. Inhibits ALA DEHYDRATASE
*ALA ->-> Porphobilinogen
*ALA buildup

2. Inhibits FERROCHELATASE *Protoporphyrin + Fe2+ --> Heme
*CO-PRO-PORPHYRIN buildup
Precipitated by drugs

Painful abdomen

Polyneuropathy

Pink urine

Psychological disturbances
Acute intermittent porphyria
Imprinting
Differences in phenotype exist depending on which parent the gene cam from

AngelMan --> Maternal deletion
Prader-Willi --> Paternal deletion
Adult PKD
90% are due to AD mutation of APKD1 (chromosome 16--legal adult?)
*Juvenile form is recessive

A = ANEURYSMS (berry)
P = Prolapse (mitral valve)
K = Kidney failure (pain, hematuria, HTN)
D = Dominant inheritance
1 = Liver disease (also polycystic)

ALWAYS BILATERAL

Large cysts --> Massive enlargement of kidneys
FAP
FAP = Familial ADENOMATOUS POLYPOSIS

APC gene --> ADENOMATOUS POLYPOSIS of the colon

5 letters in polyp --> Chromosome 5q
*Learn the 'APCs' when you're 5

Defect in MISMATCH REPAIR gene
*Dominant phenotype (assume 100% 2nd hit)

COLON becomes covered in polyps AFTER puberty --> Progression to CRC unless resected
*Rectum always involved

Gardner's syndrome: FAP +
1. Osseous and soft tissue tumors
2. Retinal hyperplasia

Turcot's Syndrome: FAP + Glioblastoma
Familial hypercholesterolemia: Genetics
AD mutation in LDL receptor
(absent, defective)

Heterozygote (1/500): Cholesterol over 300

Homozygote: Cholesterol over 700
*Tendon xanthomas (Achilles)
*MI may develop before age 20
Huntingtons
AD mutation of chromosome 4
*Hunting 4 food

Triplet repeat disorder (CAG)
*Anticipation

Caudate atrophy
Decreased GABA and Ach --> GAch it's bad

Manifests between 20 and 50
*Depression
*Progressive dementia
*Choreiform movements
Marfan
AD fibrillin gene mutation

Ocular: Subluxation of lenses

Skeletal abnormalities
*Tall w/long extremities
*Pectus excavatum
*Hyperextensive joints
*Arachnodactyly

Cardiovascular:
*CYSTIC MEDIAL NECROSIS of aorta --> Dissecting aneurysm
*Floppy mitral valve
*Aortic regurgitation as a late complication
Neurofibromatosis 1
a.k.a. Von Recklinghausen's disease
*Long name: LONG arm of chromosome 17(q)
*17 letters in Von R

AD mutation

"Scalding coffee"
*KyphoSCOLIOSIS
*Cafe au lait spots

Tumors: PALON
*Pheos
*All tumors (inc. skin fibromas)
*Lisch nodules (pigmented iris hamartomas)
*Optic gliomas
*Neural tumors
Neurofibromatosis 2
AD mutation of chromosome 22q

2 senses:
*Hearing: Bilateral acoustic neuroma (schwannoma)
*Eyes: Juvenile cataracts
Tuberous sclerosis
AD mutation w/incomplete penetrance, variable penetration

White to green while in the CAR:
*Facial angiofibroma
*Ash leaf spots (depigmented skin)
*Shagreen patch (orange peel skin)
*Other skin lesions (facial adenoma sebaceum)

*Cardiac rhabdomyoma
*Astrocytoma
*Renal angiomyolipomas
VHL
AD mutation of chromosome 3 (3 parts to name)
HEMANGIO, HALF

Hemangioblastomas (retina, brain--cerebellum, medulla)

Half develop bilateral renal cell carcinomas
Cystic fibrosis
AR defect in CFTR gene
*Most common lethal genetic disease of Caucasians

Chromosome 7 deletion of Phe 508
*508 area code when I was 7

CFTR is a 2 way Cl- channel
*Secretes Cl- in lungs, GI
*Absorbs Cl- from sweat
*Cl- sweat test is diagnostic

Thick mucus that plugs:

*LUNGS --> Pseudomonas, S. aureus, chronic bronchitis, bronchiectasis, meconium ileus

*PANCREAS --> Insufficiency (malabsorption, steatorrhea), fat soluble vitamin deficiencies

*LIVER

Infertility in males: Bilateral agenesis of vas deferens

Treatment: N-acetylCYSTeine to loosen mucous plugs (also an antidote for aspirin OD)
X-linked recessive diseases
Be Wise, Fools GOLD Heeds False Hope

Bruton's agammaglobulinemia
*BTK gene; no B lymphocytes

Wiskott-Aldrich syndrome
*Low IgM, high IgA

Fragile X
*FMR1 gene; MR, anticipation

G6PD
*Poor glutathione function

Ocular albinism
*Eye lacks melanin pigment

Lesch-Nyhan syndrome
*Collagen 3

Duchennes
*Dystrophin gene deletion

Hemophilia A and B
*Hemophilia A = Factor 8
*Hemophilia B = Factor 9

Fabry's disease
*Alpha-galactosidase A def --> Ceramide trihexoside

Hunter's syndrome
*Iduronate sulfatase def --> Heparan, dermatan
Duchenne's
*XR
*Frame-shift mutation causing deletion of dystrophin

Accelerated muscle breakdown
*Onset before 5 years of age

1st = Pelvic girdle muscles
*Gower's maneuver (using upper extremities to stand)

Later: Superior muscles, cardiomyopathy

Pseudohypertrophy of calf muscle
*Fibrofatty replacement

Diagnosis:
**CPK**
**MUSCLE BIOPSY**
Becker's
XR

Mutated dystrophin gene

Less severe than Duchenne's
Fragile X
XR defect

Aberrant METHYLATION, expression of FMR1
*Chromosome becomes fragile
*Triplet repeat: CGG
*Expansion in females

2nd most common cause of genetic mental retardation (DS = #1)

FragileX = eXtra-large testes, jaw, ears

Association w/autism
Trinucleotide repeat diseases
Try HUNTING for MY fried EXX

Huntingtons
Myotonic dystrophy
Friedrich's ataxia
Fragile X

+/- Anticipation
Downs Syndrome
Downs ~ Drinking age (21)

1/700 (Most common chromosomal disorder)

Increases w/maternal age
*95% Nondisjunction
*4% Robertsonian translocation
*1% Mosaicism

Decreased alpha fetoprotein
Decreased Beta-HCG
Nuchal translucency

Life expectancy: 45-50 years

ASSOCIATIONS:
*ALL, AML
*Alzheimer's disease > age 35
*Duodenal atresia (double bubble)
*Hirschprung's diease

Mental retardation (most common cause)

Head:
*Flat facial profile
*Epicanthal folds

Congenital heart defects: ASD
*Endocardial cushion defects

Hands: Simian crease
Feet: Gap between 1st two toes
Edward's Syndrome
Edwards ~ Election age (18)

1/8000

Increased risk w/maternal age

No prenatal screening

Life expectancy < 1 year
Severe MR

Low set ears + small jaw

Heart defects

Rocker bottom feet
Patau's syndrome
Patau ~ Puberty age (13)

1/15,000

Increased risk w/maternal age

No prenatal screening

Life expectancy < 1 year
Severe MR

Holoprosencephaly
Small eyes and cleft palate
Polydactyly
Heart defects
Rocker bottom feet
Cri-du-chat
Deletion of short (p) arm of chromosome 5

Severe MR --> Cat-like cry
Microcephaly --> Cat-size head
Epicanthal folds --> Cat-like eyes

Cardiac abnormalities
22q11
CATCH 22

Cleft palate
Abnormal facies
Thymic aplasia --> T-cell deficiency
Cardiac defects
Hypocalcemia (Parathyroid)

DiGeorge: THC --> Thymic, parathyroid (hypocalcemia), cardiac defects

Velocardiofacial: CAC--> Cleft palate, abnormal facies, cardiac
Surface ectoderm derivatives
Adenohypophysis (anterior pituitary)

Everything exposed to air:
*Epidermis
*Lens of eye
*Epithelial linings of eye, ear, nose
Surface ectoderm derivatives
Adenohypophysis (anterior pituitary)

Everything exposed to air:
*Epidermis
*Lens of eye
*Epithelial linings of eye, ear, nose
Neuroectoderm
Neurohypophysis (posterior pituitary)

CNS neurons
Oligodendrocytes
Astrocytes
Ependymal cells
Pineal gland
Neural crest derivatives
ABCCDE
LMOP

ANS + Schwann cells
Bones of the skull
Parafollicular C cells (thyroid)
DRG
Enterochromaffin + Chromaffin cells

Laryngeal cartilage
Melanocytes
Odontoblasts
Pia (and arachnoid)
Endoderm derivatives
Gut tube epithelium and derivatives

Lungs
Liver
Pancreas
Thymus
Thyroid (Follicular cells)
Parathyroid
Mesoderm
ABCD SLUM

Adrenal cortex
Bone, blood
Cardiovascular, CT
Dura mater

Spleen
Lymphatics
Urogenital structures
Muscle
Most common mesodermal defects
VACTERL

Vertebral defect
Anal atresia
Cardiac defects
Tracheo-Esophageal fistula
Renal defects
Limb defects
Tobacco during pregnancy
Pre-term labor
Placental problems
ADHD
Alcohol during pregnancy
#1 cause of congenital malformations in US

May involve migration errors

HHeLL =
*Head and heart
*Limb and lung

Head = Retardation, Microcephaly, Facial abnormalities

Heart = Fistulas
Lung = Fistulas
Limb = Dislocation
Twinning
Each fetus will always have its own amniotic sac
Fetal component of placenta
Chorionic villi

Outer layer = Syncytiotrophoblast
*Secretes hCG

Inner layer = Cytotrophoblast
Bulbus cordis
Smooth parts of left and right ventricle
Primitive ventricle, primitive atrium
Trabeculated parts of left and right ventricle/atrium, respectively
Right horn of sinus venosus
Smooth parts of right atrium (and left atrium)
Fetal erythropoiesis
BSLY --> BeaSLY

Bone marrow: 28+
Spleen: 9-28
Liver: 6-30
Yolk sac: 3-8
Foramen ovale closure
1st breath: Resistance of pulmonary vasculature DECREASES --> Increased flow through lungs and into LA --> Increased LA pressure

Foramen ovale closes
Umbilical vein becomes
Ligamentum teres hepatis

Hepatis --> Goes to liver region
*Umbilicus to portal vein + ductus venosus

Contained in falciform ligamen
Ductus venosus becomes
Ligamentum venosum

Starts where umbilical vein sends a branch to liver

Ends at IVC
Ductus arteriosus becomes
Ligamentum arteriosum
Umbilical arteries become
Medial umbilical ligaments

From Internal iliacs to umbilicus
Urachus becomes
Median umbilical ligamen
1st aortic arch: Derivatives
1st arch is MAXIMAL

Maxillary artery
2nd aortic arch: Derivatives
STAPEDIUS IS SECOND

Stapedial artery
Hyoid artery
3rd aortic arch: Derivatives
C is the 3RD letter of the alphabet

COMMON CAROTID (and part of internal carotids)
4th aortic arch: Derivatives
Blood gets to the 4 limbs

Left = Aortic arch

Right = Proximal subclavian artery
6th aortic arch: Derivative
Proximal pulmonary arteries

Left: includes ductus arteriosus
Branchial apparatus: Germ layer origins
a.k.a Pharyngeal apparatus

Clefts --> Ectoderm

Arches --> Mesoderm + Neural crest

Pouches --> Endoderm
Branchial cleft derivatives
Cleft 1: External auditory meatus

He had to EAt Meat so he CLEFT

Clefts 2-4 --> Obliterated
Branchial arch 1 derivatives
TTT MAD MOUTH

Innervated by CN V-2 and V-3

Muscles (TTT MAD):
Tensor tympani
Tensor veli palatini
anterior Tongue (Two-thirds)

Mylohyoid
Anterior belly of Digastric

Mouth =Mastication (Masseter, pterygoids, temporalis)

Mouth =Meckel's cartilage

Malleus (+incus)
Mandible
SphenoMANDIBULAR ligament
Branchial arch 2 derivative
SSSecond arch
CN SSSeven

The SS Faces the PD

Innervated by CN SSSeven

SS = Reichert's cartilage + mirror muscles
*Stapes
*Stylohyoid ligament AND attachments (Styloid process + hyoid: lesser horn)

Stapedius muscle
Stylohyoid muscle

*FACE = Facial expression muscles

PD = Posterior belly of digastric
Branchial arch 3 derivatives
3x3 =9 --> Innervated by CN 9

3rd arch = 3 things to remember:

Cartilage --> Greater horn of hyoid
*Great enough to have its own arch

Tongue: Posterior 1/3 (with arch 4)

Muscle: Stylopharyngeus
Branchial Arch 4
Superior laryngeal branch of CN X

TLC Please --> Take care of cricothyroid!

Tongue--posterior 1/3 (w/arch 3)
Levator veli palatini
Constrictors (pharyngeal)

Cricothyroid
Branchial Arch 6
In the end, an I for an I

Inferior laryngeal branch of CN X

Intrinsic muscles of larynx EXCEPT cricothyroid
Branchial arch innervation
The only CNs with both SENSORY and MOTOR components

1 --> CN V-2, V-3
2 --> CN VII
3 --> CN IX
4 --> CN X (S. laryngeal branch)
6 --> CN X (I. laryngeal branch)
Ear origins
Malleus/incus + tensor tympani
*Part of ARCH 1: TTT Mad Mouth
*CN V-3

External auditory meatus: Cleft 1

Tympanic membrane: 1st branchial membrane
Stapes + Stapedius
*Part of ARCH 2: SS Faces PD
*CN VII
Tongue origins
Anterior 2/3:
*Part of ARCH 1: TTT Mad Mouth
*CN V-3 --> Sensation

ANTERIOR 2/3 TASTE IS CN VII

Posterior 1/3
*Part of TLC-P: Arch 4 (AND 3)
*CN 9 (most), CN X (posterior)

Motor innervation: CN XII

Muscle origin: Occipital myotomes
Branchial pouch 1
Endoderm lined structures of the ear

MAC (n' cheese) ET MEC's:

Mastoid air cells
Eustachian tube
Middle ear cavity
Branchial pouch 2
Epithelial lining of palatine tonsil
Branchial pouches 3 + 4
3rd pouch:
*THree ~ THymus
*INFERIOR parathyroids

4th pouch:
*Superior parathyroids
*Since it only gets 1 thing, it gets the SUPERIOR parathyroids

DiGeorge: Malformation of 3rd and 4th pouches
*THC: Thymic aplasia, hypocalcemia (no parathyroids), cardiac defects
Cleft lip
Failure of PRIMARY palate

Failure of fusion of nasal processes: maxillary and medial
Cleft palate
Failure of SECONDARY palate

Failure of ANY of the following to fuse:
*Nasal septum
*Palatine processes (lateral, medial)
Pancreas structure
2 embryologic buds:
*VW: Ventral --> Head, Wirsung
*Dorsal --> Everything else, Santorini

Wirsung is the main duct
Santorini is accessory duct
*Santa's little helper

Annular pancreas: Ventral pancreatic head can accidentally encircle duodenum
Diaphragm origins
Several Parts Build Diaphragm

Septum transversum
Pleuroperitoneal folds
Body wall
Dorsal mesentary of esophagus

Diaphragmatic hernia --> abdominal contents herniate into thorax
*May cause hypoplasia of thoracic organs (compression)
Bladder or cloacal extrophy
Failure of caudal abdominal fold
Gastrochisis
Failure of LATERAL abdominal folds to fuse

Extrusion of abdominal contents
Omphalocele
Peritoneum-enclosed organs

Herniation of abdominal contents into umbilical cord
Mesonephros becomes
Male anatomy

Forms SEVE of SEVEN UP:
Seminal vesicles
Epididymis
Vas deferens
Ejaculatory duct

Originally functions as secondary kidney

Origin of metanephros
Metanephros becomes...
Functional kidney

Starts as a bud from mesonephros

Induces metanephric blastema

Later changes attachment point to UG sinus (bladder, ureters, allantois)
Allantois
Endodermic evagination of hidgut

Becomes surrounded by mesoderm that will form umbilical vasculature

Endoderm + mesoderm becomes umbilical cord
Paramesonephric/Mullerian duct becomes...
Fallopian tube
Uterus
Upper vagina
SRY
Gene that induces testes
MIF
Secreted by testes, along with androgens, to cause male development
Male vs. Female genital origins
Genital tubercle
*Glans penis
*Glans clitoris

Corpus cavernosum
*Erectile tissue of penis
*Erectile tissue of clitoris

Urogenital sinus
*Corpus spongiosum (urethra)
*Vestibular bulbs

*Bulbourethral glands of Cowper
*Greater vestibular glands (Bartholin)

*Prostate
*Urethral, paraurethral glands of Skene

Urogenital folds:
*Ventral shaft of penis
*Labia minora

Labioscrotal swelling
*Scrotum
*Labia majora
Techoic acid and LPS induce
TNF and IL-1
Anthrax capsule
D-glutamate

(All other encapsulated organisms have polysaccharide capsules)
Spores
Provides resistance to dehydration, heat and chemicals
*Must autoclave to kill

Autoclave ~ 1 hr >100C

Keratin-like coat

DiPIColinic acid in core = Keeps em from dying when life isn't a PICnic

Gram POSITIVE organisms
*Clostridium (Perf, Tet, Bot)
*Bacillus anthracis
Bad gram stainers
These Rascals May Microscopically Lack Color

Treponema (thin)

Rickettsia (intracellular)

Mycoplasma (no cell wall)

Mycobacteria (lipids)
*Acid fast

Legionella (intracellular)
*Silver stain

Chlamydia (intracellular)
What is the only gram (+) bacteria to have an ENDOtoxin?
Listeria
Endotoxins
Permanent structure on gram (-) bacteria
*AND LISTERIA

LPS --> Stable at 100C for 1hr

Induces fever, shock
Induces TNF and IL-1
*So does Teichoic acid (Gram +)

Poorly antigenic

No vaccines
Exotoxins
SECRETED from gram (+) and (-) bacteria
*Tetanus
*Botulism
*Diptheria
*Staph

Polysaccharide --> Destroyed at 60C
*Except staph exotoxin

DNA is NOT intrinsic to genome
*Plasmid or bacteriophage

HIGHLY toxic

Induces ANTITOXINS (high titer Abs)

Vaccines: Toxoids
S. Aureus protein A
Binds the Fc region of IgG

A bacterial virulence factor
IgA protease
Secreted by encapsulated bacteria, which already have a capsule to inhibit phagocytosis (Strep pneumo, H. Influenza, Neisseria)

Cleaves IgA
Group A streptococcal M protein
Helps prevent phagocytosis

Mediator of rheumatic fever
S. Aureus: Exotoxins and Virulence factors
Exotoxins:

TSST-1: Superantigen
*Fever
*Rash
*Shock

Enterotoxins --> Food poisoning
Exfoliatin --> SCALDED SKIN

Virulence factor = Protein A: Grabs Fc of immunoglobins
TSST-1: Origin
Exotoxin (superantigen) from S. Aureus
Exfoliatin: Origin
Exotoxin from S. Aureus

Scalded skin syndrome
S. Pyogenes: Exotoxins
1. Scarlet fever-erythrogenic toxin
*Superantigen
*Toxic shock-like syndrome

2. Streptolysin O
*Hemolysin
*Diagnose rheumatic fever w/ASO Ab
Streptolysin O: Origin
Exotoxin from S. Pyogenes

Causes hemolysis

Diagnostic for rheumatic fever
Corynebacterium diptheriae:
Exotoxins
CD = EF

ELONGATION FACTOR 2 (EF-2)
*A.k.a. Diptheria toxin

EF-2 is ADP ribosylated
*Inhibits protein synthesis

Gram positive rods
METACHROMATIC granules

Causes pseudomembranous pharyngitis (grayish-white membrane)

Lymphadenopathy

ABCDEFG:

ADP Ribosylation of EF-2
Beta-prophage encoding of exotoxin
Corynebacterium
Diptheriae
EF-2
Granules (metachromatic)
Vibrio cholerae: Exotoxins
Cholera toxin

G protein is liked to adenylate cyclase
*Cholera toxin ADP ribosylates it

Overactivity ensues:
*Cl pumped into gut
*Na+ absorption reduced

RICE WATER DIARRHEA

Comma shaped bacterium
E. coli: Exotoxins
Both cause WATERY DIARRHEA

Labile like the AIR (Labile-A)
Stable like the GROUND (Stable-G)

Heat labile: Activates Adenylate Cyclase
*Increases cAMP

Heat stable: Activates Guanylate Cyclase
Bordatella pertussis: Exotoxins
Pertussis toxin
Causes whooping cough

Inhibits an inhibitory G protein
*Increases cAMP

Inhibits a chemokine receptor --> Lymphocytosis
Clostridium perfringens: Exotoxins
Alpha toxin

Causes GAS GAGRENE

DOUBLE ZONE of hemolysis on blood agar
Clostridium tetani: Exotoxins
Tetanus toxin

Blocks release of inhibitory neurotransmitters (GABA, glycine)

Causes "lockjaw"
Clostridium botulinum: Exotoxins
Botulinum toxin

Blocks release of Ach --> CNS paralysis
*Especially CRANIAL NERVES

Spores in canned food, honey
*Floppy baby
Bacillus antrhacis: Exotoxins
Toxin COMPLEX exists

EDEMA FACTOR = adenylate cyclase
*Increases cAMP
Shigella: Exotoxin
Shiga toxin

1. Cleaves host cell rRNA
2. Enhances cytokine release
*HUS = Hemolytic uremic syndrome
E. coli 0157:H7: Exotoxin
Shiga toxin

1. Cleaves host cell rRNA
2. Enhances cytokine release
*HUS = Hemolytic uremic syndrome
Gram positive bacteria: Rods
Little Bacilli Compared to Cocci, No Argument

Listeria
Bacillus
Clostridium (anaerobe)
Corynebacterium
Norcardia
Actinomyces
*Acts like fungus, formes hyphae
Gram positive bacteria: Cocci
Catalase test: Breaks down peroxide
Staph (+)
Strep (-)

Staph: Clusters
Strep: Strips
Staphylococcus
Catalase (+)
Clusters

Coagulase test: Fibrinogen--> Fibrin
S. Aureus (+)
S. Saprophyticus (-)
S. Epidermidis (-)

S. Saprophyticus and S. Epidermidis can be distinguished using NOVOBIOCIN

"NO StRES:"
Saprophyticus = Resistant
Epidermitis = Susceptible
Catalase
H2O2 --> H2O

Differentiates Strep from Staph
Coagulase
Fibrinogen --> Fibrin

Differentiates S. Aureus from other type of Staph
Novobiocin
Differentiates Coagulase negative staph

NO StRES:

Saprophyticus = Resistant

Epidermidis = Susceptible

Novobiocin and Staph:
Think of a NOVICE STAFF
Streptococcus
Catalase (-) strips/chains

Hemolysis differentiates:

Partial hemolysis (green) = Alpha
*Differentiate further using Optochinin

Complete hemolysis (clear) = Beta
*Beta clear out, people
* Differentiate further using Bacitracin

No hemolysis = Gamma
Alpha Hemolytic Strep
Catalase (-) chains
Alpha hemolysis (green)

Strep pneumoniae:
*Optochinin sensitive
*Capsule (and Quellung +)
*Bile soluble

Strep viridans
*Optochinin resistant
*No capsule
*Not bile soluble

OVRPS (Overpass):
Viridans = Resistant
Pneumoniae = Sensitive
Beta Hemolytic Strep
Catalase (-) chains
Beta hemolysis (clear)
*Beta clear out, people

Group A (Pyogenes)
*Bacitracin sensitive
*M PROTEIN (prevents phagocytosis)
*Erythrogenic toxin encoded by prophage

Group B (S. agalactiae)
*Bacitracin resistant

BBRAS:
B = Resistant
A = Sensitive
Gram + bacteria tests:
Catalase:
*Strep (-)
*Staph (+)

Coagulase:
*S. Aureus (+)
*S. Saphrophyticus/Epiderm (-)

Novobiocin: NO StRES
*S. Saprophyticus = Resistant
*S. Epidermidis = Sensitive

Optochinin: OVRPS
S. Pneumoniae = Sensitive
*Capsule, bile solubility
S. Viridans = Resistant
*No capsule, no bile solubility

Bacitracin: B-BRAS
*Group B = Resistant
*Group A (pyogenes) = Sensitive
Gamma hemolytic strep
No hemolysis

Enterococcus
Peptostreptococcus
Gram negative cocci
Neisseria meningitidis (Maltose + Glucose)

Neisseria gonorrhoeae (Glucose)
Gram negative "coccoid rods"
Hang Between Balls and Pills

H. Influenza
Bordatella --> Like "between"
Brucella --> Doesn't have balls
Pasteurella
Gram negative rods: Lactose non-fermenters
2 S, 2 P

Oxidase +: Pseudomonas aeruginosa

Oxidase (-):
*Shigella
*Salmonella
*Proteus
Gram negative rods: Lactose fermenters
Fast: EEK!
*E. Coli
*Enterobacter
*Klebsiella

Slow: S sounds
*Citrobacter
*Serratia
H. Influenzae culture
"Go to the 5&10 store for chocolate"

Chocolate agar w/
factors V and X
N. Gonorrhoeae culture
Thayer & Gonorrhea are inexplicably linked...by a guy named Martin?

Thayer-Martin media
Bordatella Pertussis culture
Bordat-Bordet

Bordet-Gengou (potato) agar
C. Diptheriae culture
Double dipping with the letters

TeLLurite plate
LoFFler's media
M. Tuberculosis culture
Lownstein-Jenson agar
Lactose-fermenting enterics culture
Milky pink CONK shell

PINK colonies on MacConkey's agar
Legionella culture
Charcoal yeast extract

Buffered w/iron and cysteine
Fungus culture
Sabouraud's agar
Congo red stain
Used for amyloid

Apple-green birefringence in polarized light (B-pleated sheets)
Geimsa's stain
BCT P ~ Bacteria + Protozoans
(Actually 2 + 2)
*BORing CLAss--lets TRYP on PLASMA

Borellia
Chlamydia

Trypanosomes
Plasmodium
PAS stain
Stains glycogen and mucopolysaccharides

Used to diagnose Whipple's disease
Zeihl-Neelsen
Sounds like a fast European car

ACID-FAST STAIN

Mycobacteria
Cryptosporidium (Protozoan)
India ink
Cryptococcus neoformans
Silver stain
Legionella

Fungi
Conjugation
2 things make conjugation possible:

F+: Plasmid w/conjugation genes
*Plasmid is what is transferred through pilus

HFR: F+ plasmid has incorporated into bacterial chromosome
*Transfer of plasmid + chromosomal genes
Transduction
Introduction of new bacterial DNA via a virus

Generalized: Random parts of chopped up host DNA gets incorporated

Specialized: Following lysogenic stage, flanking bacterial genes excised along w/viral DNA
Exotoxins encoded in LYSOGENIC phages
ABCDE

ShigA-like toxin
Botulinum
Cholera
Diptheria toxin
Erythrogenic toxin (S. Pyogenes)
Obligate aerobes
Nasty Pests Must Breathe

Norcardia
Pseudomonas aeruginosa
Mycobacterium TB
Bacillus anthracis
Obligate anaerobe
ABC

Actinomyces --> Soil
Bacteriodes --> Gut
Clostridium --> Soil

Generally foul smelling (SCFAs)

Produce gas in tissue --> Gas gangrene
*H2 and CO2
*C. Perfringens
Obligate intracellular bugs
Stay inside when its Really Cold (RC)

Obligate intracellular: Can't make ATP
*Rickettsia
*Chlamydia
Facultative intracellular bugs
Some Nasty Bugs May Live FacultativeLY (8)

Salmonella
Neisseria
Brucella
Mycobacterium
Listeria
Francisella
Legionella
Yersinia
Encapsulated bacteria
Capsule = anti-phagocytic virulence factor

Capsular bacteria also have IgA protease

POSITIVE QUELLUNG RXN
=Capsular swelling when specific anticapsular sera are added

SpINK

Strep pneumo
H. Influenza
Neisseria meningitidis
Klebsiella
Urease positive bugs
Hockey PUK:

H. Pylori
Proteus
Ureaplasma
Klebsiella

Can cause struvite (ammonium magnesium phosphate) crystals by alkalinizing urine

Treat w/acetazolamide
Beta hemolytic bacteria (not just strep)
Strep:
*Strep pyogenes (Group A)
*Strep agalactiae (Group B)

STAPH AUREUS
LISTERIA (Unpasteurized milk)
Staph Aureus: Manifestations
Inflammatory manifestations:
*Skin infections, abscesses +/-MRSA
*Pneumonia
*Acute bacterial endocarditis
*Osteomyelitis

Toxin-mediated disease:
*TSST1
*Scalded skin syndrome
*Food poisoning
Strep pyogenes
Inflammatory manifestations
*Pyogenic skin infections (impetigo, cellulitis)
*Toxigenic skin infections (scarlet fever, toxic shock syndrome)

IMMUNOLOGIC:
*PHaryngitis: PHever, NePHritis
*Rheumatic fever
*Post-streptococcal Glomerulonephritis

Bacitracin sensitive

Antibodies to PROTEIN M (phagocytosis inhibitor) enhance host defenses, but can give rise to rheumatic fever

ASO titer detects recent S. Pyogenes infection

Rheum for SPECCulation
*Subcutaneous nodules
*Polarthritis
*Erythema marginatum
*Chorea
*Carditis

VS.

FEVERSS:
Fever
ESR
Valvular damage (Mitral > A > T)
Erythema marginatum
Red hot joints (polyarthritis)
Subcutaneous nodules (Aschoff) + Anitz
St. Vitus' dance (Chorea)

Aschoff = Webby area that contains anitschow cells (nuclei look like a football stitch)
Strep pneumoniae
Rusty sputum

Most common cause of MOPS:
MENINGITIS
OTITIS MEDIA
PNEUMONIA
SINUSITIS

May cause SEPSIS w/no spleen (or sickle cell anemia)

Encapsulated--IgA protease
Optochinin sensitive
Group B streptococci
B is for BABIES

Beta-hemolytic
Bacitracin resistant

Babies have PMS?
Pneumonia
Meningitis
Sepsis
Staph epidermidis
Infects prosthetic devices and catheters

Component of normal skin flora

Contaminates blood cultures
Enterococci
Part of Lancefield group D
*Subset of gamma-hemolyic strep
*Based on C carbohydrate on cell wall
*Variable hemolysis
*Hardy: can grow in 6.5% NaCl

UTI
Subacute endocarditis

Penicillin G resistant
Some VANCOMYCIN resistant strains
Viridans
Alpha hemolytic
Optochinin resistant

Normal flora of oropharynx

Strep mutans = CARIES
Strep Sanguis = Subacute endocarditis
*Sanguis = "Blood"
*Lots of blood in HEART
Clostridia
Gram positive
Spore forming
Obligate anaerobe

Tetani: Blocks glycine, GABA release from RENSHAW cells of spinal cord
*Exotoxin encoded by prophage

C. Botulinum: Inhibits Ach release @NMJ
*Adults = Pre-formed toxin
*Babies = Spores (honey, cans)
*Exotoxin encoded by prophage

C. Perfringens: Alpha toxin (lecithinase)
*Myonecrosis (gas gangrene)
*Hemolysis
*Perfringens PERFORATES a gangenous leg

C. difficile: Cytotoxin
*Endotoxin that kills enterocytes
*Pseudomembranous colitis
*CLINDAMYCIN or AMPICILLIN use
Renshaw cells
Inhibitory nerves emerging from spinal cord

C. Tetani blocks their release of glycine
C. Difficile: Exotoxin
Cytotoxin

Kills enterocytes
Causes pseudomembranous colitis

Most often after AMPICILLIN OR CLINDAMYCIN
*AMPed up necrosis = CLIND out

Treat w/METRONIDIAZOLE
Anthrax
Woolsorter's disease--spore inhalation

Caused by bacillus anthracis
Gram positive
Spore forming

ONLY bacterium w/a PROTEIN capsule
*D-glutamate

Skin contact:
1. Malignant pustule (painless ulcer)
2. Black skin lesion
*Vesicular pustule
*Covered in black eschar

Inhalation:
1. Flu-like symptoms
2. Massive pulmonary edema, hemorrhage
3. Mediastinitis, shock
Listeria
Acquisition:
1. Birth (vaginal)
2. Unpasteurized dairy

ACTIN ROCKETS to move between cells

Healthy: Mild gastroenteritis

Immunocompromised: Meningitis

Pregnancy: pain in the ASS
*Amnionitis
*Septicemia
*Spontaneous abortion

Infancy:
*Meningitis
*Granulomatous infantiseptica
Actinomyces israelii
Gram positive rod
Obligate anaerobe

Forms long branching filaments (resembles fungi)

NORMAL oral flora
Can cause ORAL/FACIAL abscesses
*Forms YELLOW sulfur granules in sinus tracts

Treat w/PENICILLIN

SNAP:
Sulfa for Norcardia
Actinomyces uses Penicillin
Nocardia
Gram positive rod

Causes PULMONARY infection in immunocompromised patients

SNAP:
Sulfa for Norcardia
Actinomyces uses Penicillin
Neisseria
Gram negative cocci
BOTH produce IgA proteases

Meningococci:
*RESPIRATORY and ORAL secretions
*Meningococcemia, Waterhouse-Freidrichson syndrome
*Polysaccharide capsule --> Vaccine
*Maltose + glucose fermentation

Gonococci
*Sexually transmitted
*Gonorrhea + PID, septic arthritis, neonatal conjunctivitis
*No capsule --> No vaccine
*Glucose-only fermentation
H. Influenza
Gram negative coccobacillus
Aerosol transmission
Capsule--IgA protease

Chocolate agar w/factors 5+10
*When you have the FLU, mom goes to the 5&10 to buy CHOCOLATE

MOPE (vs. MOPS for Strep Pneumo)
*Does NOT cause the flu

Meningitis--ceftriaxone
Otitis media
Pneumonia
Epiglottitis

Vaccine: Given 2-18 months
*Type B capsular plolysaccharide + protein (diptheria toxoid, etc.)
Enterobacteria
All gram negative rods except PSUDOMONAS
*All ferment glucose
*All are oxidase negative

K antigen: virulence factor
*Kapsular
*KILLER factor

O Antigen: POlysaccharide component of endOtoxin

H antigen: Flagella
*HUSTLE factor
*Motile species
Klebsiella
Currant jelly sputum

3 A's
Alcoholics
Abscess in lungs
Aspiration pneumonia

Also pneumonia in diabetics
*Alcoholics + diabetics = People who hate their pancreas club
Salmonella
Gram negative rod
Non-lactose fermenting

Invades intestinal mucosa to cause BLOODY DIARRHEA

Less virulent than Shigella (another non-lactose fermenting GNR that causes bloody diarrhea)

STINKY SALMON SWIM:
*H2S production
*Animal reservoir
*Flagella--can disseminate hematogenously

Typhoid fever =
*Diarrhea
*Fever, headache
*ROSE SPOTS on abdomen
*Can remain in GB chronically

Transmission via the 4 Fs:
Food
Fingers
Feces
Flies
*Diarrhea
*Fever, headache
*ROSE SPOTS on abdomen
Typhoid fever

Salmonella typhi
Shigella
Gram negative rod
Non-lactose fermenting

Invades intestinal mucosa to cause BLOODY DIARRHEA

More virulent than Salmonella (another non-lactose fermenting GNR that causes bloody diarrhea)

Does not disseminate
Propels itself via actin polymerization

Transmission via the 4 Fs:
Food
Fingers
Feces
Flies
Yersinia entercolitica
Transmitted via:
*PUPPIES (pet feces)
*PORK
*Milk

Outbreaks common at DAY CARE centers

Can mimic Crohn's or appendicitis
Reheated rice food poisoning
Bacillus cereus

"Food poisoning from REHEATED RICE? B. CEREUS!"
Custard food poisoning
Mayonnaise food poisoning
S. Aureus
Seafood poisoning
Vibrio parahaemolyticus

Vibrio VULNificus
*Skin is also VULNerable to infectio
Meat food poisoning
S. Aureus
Salmonella

C. Perfringens (if reheated)
E. Coli O017:H7 (if undercooked)
Poultry, egg poisoning
Salmonella
Pork food poisoning
Yersinia entercolitica
Milk food poisoning
Listeria

Yersinia entercolitica
Bloody diarrhea
YE ESC, ESC

Yersinia entercolitica

E. Coli O157:H7
*Makes shiga-like toxin
*Can cause HUS

Enteroinvasive E. coli (invades mucosa)

Salmonella

Campylobacter
*S or comma shaped organism
*CAMPS (grows) in your FRIDGE
*Oxidase positive

Entamoeba Histolytica (Protozoan)

Shigella

C. difficile
*Can be bloody OR watery
Watery diarrhea
They RAN to GUARD the CRYPTic PCD Emblem

RAN = Virusis
*Rotavirus
*Adenovirus
*Norovirus

Guard = Giardia (Protozoan)

Cryptic = Cryptosporidium (Protozoan)--mild

P = C. Perfringens

C = Cholera
*Comma shaped
*Rice water diarrhea

D = C. Difficile

Emblem = E. coli (Enterotoxigenic)
*Traveler's diarrhea
*ST and LT toxins
Bacterial cAMP modifiers
They increase camp somehow

3 ADP ribosylators:
1. Cholera: Stimulates Gs
2. Pertussis: Inactivates Gi
3. E. coli heat labile: Stimulates AC

Anthrax: Actually IS an AC
Legionella
Gram negative rod
Requires silver stain
Requires charcoal yeast medium w/Fe, Cysteine

Transmission = Aerosol from water source
*No PERSON-TO-PERSON transmission

Manifestations:

1. Legionnaire's disease = Severe pneumonia
2. Pontiac fever = Mild influenza

Treatment: Erythromycin

Picture: Legionnaire with his SILVER IRON dagger, sitting around a CHARCOAL fire. He's no SISSY (cysteine)
Pseudomonas
Gram negative rod
OXIDASE (+) --> Aerobic

Exotoxin A (like diptheria): Inactivates EF-2

Associations:
Cystic fibrosis
Burns

Associations = PSEUDO
P = Pneumonia (cystic fibrosis)
S = Sepsis (w/BLACK lesions on skin)
E = External otitis (swimmers ear)
U = UTI
D = Drug use
O = Osteomyelitis (diabetic)
*HOT TUB FOLLICULITIS

Blue-green color (pyocyanin)
GRAPELIKE odor

Produces Exotoxin A (inactivates EF-2)

Treat: Aminoglycoside + extended spectrum penicillin (piperacillin, ticarcillin)
H. Pylori
Gram negative rod
Urease positive (neutralizes acid)

Hangs out in the antrum

Complications:
*Type B gastritis --> AdenoCA, MALT lymphoma
*~100% of duodenal ulcers
*~70% of PUD

Triple therapy: Make Tummy Better
*Metronidiazole or PPI
*Tetracycline or amoxicillin
*Bismuth
Cat scratch fever
Bartonella henselae
Brucella
Brucellosis/UNdulant fever

UNpasteurized dairy products
Contact w/animals

UNpasteurized dairy products ~ Undulant fever
Francisella tularensis
Tularemia

Tick bite
*Lives on deer and rabbits
Gardnerella vaginalis
Gram VARIABLE rod
Sexually transmitted

Gray vaginal discharge w/fishy smell

CLUE cells (vaginal epithelial cells covered w/bacteria)

Treat w/metronidiazole
Primary TB
Nonimmune host (usually a child)

1. Ghon focus (granulomas) in lower lung

2. Lobar and perihilar node involvement

Outcomes:
1. Healing (PPD+)
*2nd exposure --> fibrocaseous cavitary lesion in UPPER lung

2. Progressive lung disease (death, rare)

3. Miliary TB (death)

4. Pre-allergic lymphatic dissemination --> Reactivation TB
*CNS (parenchyma, meningitis)
*POTT'S DISEASE (vertebral body)
*Lymph nodes
*Renal
*GI
*Lung --> Fibrocaseous cavitary lesion in upper lung
Secondary TB
REACTIVATION
or
2nd INFECTION

Fibrocaseous cavitary lesion
UPPER LUNG

(Ghon focus of primary TB is in lower lung)