First Aid Rapid Review - 1. Classic Presentations (JR) Part#1

jidojije's version from 2016-03-13 02:37

Clinical presentations

Clinical PresentationDiagnosis/Disease
Acanthocytosis (RBCs look like spiny, like medieval mace) + Steatorrhea + failure to thriveAbetalipoproteinemia (↓ Apo-B48 (↓ chylomicrons), ↓ Apo-B100 (↓ VLDL))
Abdominal pain, ascites, hepatomegalyBudd-Chiari syndrome (posthepatic venous thrombosis) (IVC or Hepatic Vein)
Abdominal obesity, ↑ BP, ↓ HDL, ↑ triglycerides, ↑ fasting blood glucoseMetabolic Syndrome
Absent UDP-glucuronyl transferase, jaundice, kernicterus, ↑ unconjugated bilirubin, Tx = plasmapheresis and phototherapyCrigler-Najjar Syndrome Type I (TYPE II = less severe)
Achilles tendon xanthomaFamilial hypercholesterolemia ( ↓ LDL receptor signaling) - Type 2a
Acryodynia (peeling of fingertips) + Kidney + CNSMercury Poisoning (also seen in Kawasaki's Disease)
Acute paralysis, dysarthria, dysphagia, diplopia, can cause Locked-in syndromeCentral Pontine Myelinolysis (demyelination on pons white matter tract due to rapid correction of Hyponatermia)
Hyperemia, Infarcts due to Adrenal hemorrhage, hypotension (SEPSIS) , DICWaterhouse-Friderichsen syndrome
(Neisseria meningitidis - OuTeRmEmbRaNE Lipooligosaccharide)
African sleeping sickness (LAD + fever + coma ), Teste fly. TX?Trypanosoma brucei/gambiense/rhodesiense (Tx = Suramin for blood, Melarsoprol for CNS)
Agnosia (loss) of contralateral side of the world, spatial neglect syndrome, makeup on 1/2 of the face Right Parietal Lobe Lesion (Non-Dominant)
Albinismdecreased tyrosinase or improper migration of neural crest cells
Aneurysm in small vessels of the brain in basal ganglia and thalamus, seen in chronic HTN <1mm
Sudden onset of FOCAL deficts(weakness,numbness,diminishedpower)
CT SCAN shows Immediately
Charcot-Bouchard Microaneurysm--> cause Intraparanchymal Hemorrhages
Anosmia, delayed wound healing (rash around eyes, mouth, nose), dysgeusia (loss of sense of taste), ↓ adult hair (face, pubic), predispose to alcohol cirrhosisZinc DEF (Zinc finger = transcription factor motif, protein interact w/ DNA)
zinc fingers plugging up
Anosmia (loss of sense of smell), hypogonadism, defective migration of GnRH cells, (Hypogonadotrophic Hypogonadism)Kallmann Syndrome
Anterograde amnesia (can't form new memories)Hippocampus lesion
Anthracosis (carbon in macrophages of lungs), diffuse fibrosis, black lung, no ↑ in risk of lung cancer Coal Worker's Pneumoconiosis
Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints Marfan's syndrome (fibrillin defect)
Arsenic or Polyvinyl chloride exposureHepatic Angiosarcoma (NOT adenoma)
Aschoff bodies (granuloma w/ giant cells), Anistchkow cells (large activated macrophages, "caterpillar cells) --> Pic --> surrounding = myocytes, middle = aschoff body, inside the aschoff body = anistchkow cells
Rheumatic Fever (Strep. pyogenes = Group A Strep, ASO titer, Protein M)

JONES criteria
St Mark Dance (Chorea)(Early)
Athlete with polycythemiaErythropoietin (EPO) injection
Back pain, fever, night sweats, weight lossPott's disease (vertebral tuberculosis)Tuberculosis Spondylatits
Bacteria FROM JANE = Fever + Roth Spots (retina, white stop), Osler's nodes ("ouch ouch osler"painful lesions on fingers or toes), Murmur, Janeway lesions (painless, red lesions on palm or sole), Anemia, Nail-bed hemorrhage, Emboli

**vegetations ONLY on top (Atrial-side) of Mitral valve

Bacterial Endocarditis
(Acute = S. aureus = large vegetations on normal valves, rapid) vs. (Subacute = Viridans Strep = small vegetations on diseased valves, slow)

S. bovis (Colon Cancer), S. epidermidis (prosthetic valves)

Osler & Janeway = get from breaking off of septic vegetation from mitral vale and traveling in systemic circulation to different sites

**Mitra Valve = most common
Tricuspid Valve = in IV Drug users

Complications = chordae rupture, glomerulonephritis, pericarditis, emboli
Basophilic StipplingTAIL (Thalasemia, Anemia of Chronic Dz, Iron Deficiency, Lead poisoning), ribosomes
"Beads on a string", p-ANCA+, male, ulcerative colitis, Hyper IgMPrimary Sclerosing Cholangitis
Bell’s palsy (total facial – upper and lower paralysis)Lyme, Herpes, AIDS, Sarcoidosis, Tumor, Diabetes
Benign capillary hemangioma of infants, regresses spontaneouslyStrawberry Hemangioma(blood vessel bening tumor) First Increase & Decrease size
Benign capillary hemangioma of elderly, DOES NOT regresses spontaneouslyCherry Hemangioma (blood vessel bening tumor) (pop the cherry = old)
Benign capillary skin papules in AIDS patients, mistaken for Kaposi SarcomaBacillary Angiomatosis (Bartonella = cat/dog scratch disease)
Benign hamartoma (mass that looks like tumor, a lot of growth of normal tissue) of cardiac muscle, seen in children, associated w/ Tuberous SclerosisRhabdomyoma
Benign, painful red-blue tumor under fingernailsGlomus Tumor (Glomus = fingernail tumor)
- from smooth muscles for vasodilation of skin vessels
Symptoms Position Dependant, Benign mass in left atrium, most common primary tumor in adults, can obstruct Mitral valve --> sudden death
Scattered Cells-> Mucopolysacchride stroma-> Abnormal blood vessels -> Hemmorrhage
Atrial Myxoma
Bilateral Bell's PalsyLyme Disease (Erythema chronicum migrans = bulls eye rash, Ioxdes, Borrelia)
Guillain-Barre Disease (Endoneural inflammatory infiltration - destruction of schwann cells)
Bilateral hilar lymphadenopathy, uveitis, Eleveated serum ACE
Sarcoidosis (noncaseating granulomas)
Birbeck granules (tennis rackets), caner of dendritic/specialized macrophages of skin, CD1a+ & S100+ (neural crest), lytic bone lesions + rashLangerhans Cell Histiocytosis
Black urine, brown sclera pigments, dark connective tissue
Alkaptonuria (Ochronosis) - deficiency of homognestic acid oxidase (tyrosine metabolism)
Blisters on sun exposed skin, excessive hair growth (hyper-trichosis), facial hyper pigmentation, alcohol, HCV (~homeless man)
Porphyria cutanea tarda
Blockage in CSF circulation within the ventricular system --> buildup of CSF above the blockage --> ↑ ICP, herniation, papilledemaNon-Communicating (Obstructive) Hydrocephalus (Hydrocephalus = abnormal ↑ in CSF)
Blue scleraOsteogenesis imperfecta (congenital type I collagen defect)
Bluish line on gingiva, wrist drop/foot drop, anemia, encephalopathy, basophilic stipplingBurton's line (lead poisoning = tx = EDTA)
Lead poisoning (↓ Ferrochelatase , ↓ ALAD)
BMI > 30Obese
Bone pain, bone enlargement, arthritis
Mosaic pattern of lamellar bone withirregular sections of lamellar bone linked by cement lines
Paget's disease of bone ( ↑ osteoblastic and ↑ osteoclastic activity)

1. Calcitonin—inhibits osteoclast function (basically anti-PTH)
2. Bisphosphonates—induces apoptosis of osteoclasts
Bone replaced w/ fibrosis + collagen,Polyostotic Fibrous Dysplasia
"Boot-shaped" heart on X-ray, congenital heart defectTetralogy of Fallot (b/c of RVH = patient squats to ↑ systemic pressure = ↑ afterload = push more blood into pulmonary circulation)
Pulmonary artery stenosis
Right ventricular hypertrophy
Overiding Aorta
Ventrical Septal Defect
Bounding pulses, diastolic heart murmur, head bobbing, WIDE Pulse pressure (b/c during diastole = blood regurgitates back into LV and ↑ preload = ↑ contractility = wide pulse pressure)Aortic regurgitation
Brain abscess in HIV ptx, ring-enchanhing lesionToxoplasma (cysts in meat or cat shit pregnant women should avoid cats)
Brief (<1 hour), REVERSIBLE focal neuro deficits, without acute infarction (negative MRI)TIA (Transient Ischemic Attack)
Bronchospasm (wheezing) + Flushing + Diarrhea + Right sided heart murmur, Urine = 5-Hydroxyindoleacetic acid(5HIAA)Carcinoid Tumor (neuroendocrine cells, ↑ serotonin, small intestines) ((if you have diarrhea, flush the right valve to prevent bronchospasm in the next user)
"Butterfly" facial rash and Raynaud's phenomenon in a young female
Cadmium poisoninglungs + kidney + bone
Cafe-au-lait spots(Pigmented spots on trunk), Lisch nodules (iris hamartoma), Rubbery cutaneous tumors(Butonholing)
Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)
Neurofibromatosis type II (+ bilateral acoustic neuromas)
NEURAL CREST - Schwann Cells
Cafe-au-lait spots + polyostotic fibrous dysplasia (bone replaced by fibroblasts and collagen) + precocious puberty, multiple endocrine abnormalitiesMcCune-Albright syndrome (mosaic G-protein signaling mutation) = Gprotein always active
Albright and ready to Go
Calf pseudohypertrophyMuscular dystrophy (commonly Duchenne): X-linked recessive deletion of deletion of dystrophin gene
Cancer of B-cells, t(11;18), associated w/ chronic inflammatory states Hashimoto Thyroiditis, Sjogren Syndrome, H. pylori gastritis (MALToma)Marginal Zone Lymphoma (Non-Hodgkin's Lymphoma)
Cancer of Plasma cells, CRAB = HyperCalcemia, Renal Insufficiency, Anemia, Bone lytic lesion/Bone pain (↑bone destruction, "punched out lesions"). Monoclonal M-protein Spike (IgG or IgA), Rouleaux formation (poker chips), ↑ light chain (primary AL amyloidosis), ↑ light chain in urine (Bence-Jones protein)

Multiple Myeloma (Plasma Cell Myeloma)

C = hypercalcium
R = renal failure
A = anemia
B = bone lytic lesions
Capillary hemangioma that can ulcerate and bleed, associated w/ trauma and pregnancyPyogenic Granuloma
Cat scratch diseaseBartonella henselae - acute symptoms (hours)
Cat or Dog bitePasteurella multocida (symptoms in 5-7 days)
Cavernous lymphangioma of the neck (Turner's,Webbed neck)Cystic Hygroma
Cervical (neck) LAD painless + Mediastinal LAD painless, female, fibrosis in lymph node, Reed-Sternberg cells in lakes Lacunar cells
Nodular Sclerosis (most common Hodgkin's Lymphoma)
Charcot-Leyden crystal (eosinpphils in sputum), Curschmann spiral (epithelium that forms a mucous plug), smoothmuscle hypertrophy, bronchial hyperresponsiveness, ~reversible` bronchoconstrictionAsthma
Charcot's Triad (Fever, Jaundice, RUQ pain) & ↑ Alkaline PhosphataseCholangitis (inflammation of biliary tree)
Cheilosis (scaling/fissures at corners of mouth), Corneal vascularizationRiboflavin (FAD) deficiency (B2), 2C's
"Cherry-red spot" on maculaTay-Sachs (LSD: ganglioside accumulation) or Niemann-Pick (LSD: sphingomyelin accumulation), central retinal artery occlusion
Tay Sachs Gang, Niemann picks on his myelin
Chest pain on exertion, CAD narrowing of > 75%, ST Depression on EkGAngina (stable: moderate exertion, PREDICTABLE; unstable: minimal exertion or at rest = NON-PREDICTABLE)
**ST depression = ischemia, subendocardial injury
Chest pain secondary to CORONARY ARTERY VASOSPASM, ST elevation on EKG -Prinzmetal Angina (Tx = Nifedipine or Nitroglycerine) (ST elevation = infarction, transmural injury)
Chest pain, pericardial effusion/friction rub, persistent fever following MI. autoimmune mediated pericarditis after 2-12 weeks vs MI
<2 weeks is DUE TO Inflammatory reaction to cardiac muscle necrosis
Dressler's syndrome
Child uses arms to stand up from squatGowers' sign (Duchenne dystrophy)
Child w/ fever develops red rash on face that spreads to bodySlapped cheeks (bonemarrow) parvovirus B19/ erythema Infectiousm
Chorea, dementia, Caudate degeneration, Chromosome 4, CAG repeat
Huntington's disease (autosomal dominant CAG repeat expansion)

↓ ACh & ↓GABA, ↑DA

C's of Huntington's Disease
Chorioretiniits, hydrocephalus & intracranial calcifications eye pain/vison changes + inc ICF + calcification in brain
Toxoplasma (tx = sulfadiazine + pyrimethamine)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuriaMcArdle's disease; GSD V (muscle glycogen phosphorylase deficiency)
Cirrhosis, Diabetes Mellitus, Bronze pigmentation of skin, Genetic protein Abnormality at the basolateral surface of the intestine epithilialHemochromatosis (inc iron in body), HLA-A3
Affects Intestinal Absorption
Cirrhosis, PAS-positive liver, lung panacinar emphysemaalpha1-Antitrypsin Deficiency
Congenital failure of Cerebral Vermis to develop, dilated 4th ventricle, hydrocephalus Dandy-Walker Malformation
4th venticle walk into posterior fossa