Rapid Review Flashcards
Lipid soluble hormones
thyroid hormone, steroid hormones (estrogen, aldosterone, cortisol, testosterone, etc,) fat soluble vitamin receptors.
Proopiomelanocortin (POMC) is a precursor to what
produces beta-endorphin(endogenous opioids); ACTH and MSH (bronze)
Somatotropin hormones
GH, prolactin
Ecthyma gangrenosum
pseudomonas; perivascular bacterial invasion of arteries and veins in the dermis with subsequent release of EXOTOXIN causing necrosis and ulcerations (Dalmatian in sketchy)
Alpha and Beta interferons (secretion, production, moa?)
Are secreted in response to virally infected cells. These interferons generate enzymes capable of halting protein synthesis in virally infected cells. Enzymes become active upon detection of dsRNA, which is only present in virally infected cells.
Treatment of hepatic encephalopathy
lactulose: bacteria convert lactulose into acetic acid and lactic acid promoting ammonia excretion; Ramifixan is an antibiotic that disrupts GI flora and prevents the formation of ammonia.
Duodenal ulcer
Pain better with food, can be caused by H Pylori, very low risk to become malignant; Zollinger Ellison association
refractory peptic ulcers with high gastrin secretion (gastrinoma of the duodenum or pancreas), associated with MEN 1, causes GERD, and diarrhea
Zollinger Ellison
pheochromocytoma vs neuroblastoma
neuroblastoma is what its called in children; pheo- is in adults
Annular Pancreas
abnormal rotation of ventral pancreas–> forms ring encircling part of the duodenum –> narrowing–> obstruction
Pancreatic Divisum
ventral and dorsal parts fail to fuse at 8 weeks. benign but can cause pancreatitis or abdominal pain
Obstructive jaundice with palpable, non-tender gallbladder
Courvoisier sign; associated with pancreatic adenocarcinoma
Migratory thrombophlebitis- redness, tenderness on palpation fo extremities (migrating DVTs and vasculitis)
Trousseau syndrome- associated with pancreatic adenocarcinoma OR adenocarcinoma of the lung
Reynolds pentad
Jaundice, RUQ pain, fever– all charcot’s triad + altered mental status and shock (hypotension) associated with Ascending cholangitis
Charcot triad
jaundice, fever, RUQ pain- Ascending cholangitis
S Bovis
Colon Cancer
Crescendo-decrescendo systolic ejection murmur and soft S2 (ejection click may be present)
Aortic Stenosis- Systolic Murmur; Pulsus parvus et tarsus- pulses are weak and delayed; radiates to carotids
Holosystolic, high pitching “blowing” murmur
Mitral (loudest at apex; radiates toward axilla) or tricuspid (loudest at tricuspid area; RV dilation); rheumatic fever infective endocarditis- systolic murmur
Late systolic crescendo murmur w/ mid systolic click
Mitral Valve prolapse; Marfans, AD-PCKD, fragile-X Syndrome; Ehlers-Danlos- systolic murmur; Chordae rupture, rheumatic fever
Holosystolic harsh sounding murmur
ventricular septal defect- systolic murmur
High pitched Blowing in early diastolic decrescendo murmur
Aortic regurgitation; wide pulse pressure, bobbing head, headaches
Etiology: aortic root dilation, bicuspid aortic valve, endocarditis, rheumatic fever
Follows opening snap; delayed rumbling mid-to-late diastolic murmur.
Mitral Stenosis; often late sequels of rheumatic fever
Complication: leads to LA dilation–> compression of recurrent laryngeal nerve–> dysphagia/ hoarseness via compression of esophagus/ left RcLn. Diastolic
Continous machine like murmur
PDA; continuous murmur; Loudest at S2
Congenital Rubella or prematurity
Acute erosive gastropathy
erosion extends into the muscularis mucosa but not beyond it
Agraphia, acalculia (unable to carry out simple math), finger agnosia, left-right disorientation
Dominant parietal cortex/ angular gyrus; Gerstmann Syndrome;
Agnosia of the contralateral side of the world
hemispatial neglect; non dominant parietal cortex lesion
Contralateral hemiballismus
contorting an continuous movements that are asymmetric–> subthalamic nucleus lesion
Anterograde amnesia (cant make new memories)
Bilateral hippocampus lesion
Vertical gaze palsy, pupillary light-near dissociation, lid retraction, convergence-retraction nystagmus
Parinaud Syndrome; Stroke, hydrocephalus, pinealoma
Palpable purpura, abdominal pain, arthralgias, acute glomerulonephritis
Henoch-Schonlein Purpura
Microthrombi, thrombocytopenia, microangiopathic hemolytic anemia
Hemolytic Uremic Syndrome causes by E Coli O157:H7 or caused by shigella
Presence of iron deficiency anemia, dysphagia, esophageal webs
Plummer Vinson Syndrome; treatment with Fe typically helps resolve symptoms
insertion or deletion of any number of nucleotides that are not multiples of 3
Frameshift mutation
Single base substitution that results in the incorrect placement of an amino acid in the protein sequence. Occur in coding region of a gene, do not alter coding length
missense mutation
Replacement of one amino acid with another of the same characteristics.
conservative mutation
Single base change within a codon that does not change the amino acid
silent mutation
Mutation that results in a truncated protein
nonsense mutation
nutmeg liver; hepatic vein thrombus/ obstruction
Budd Chiari Syndrome
Pulmonary hypoplasia, oligohydroamnios, twisted face, twisted skin, Extremity defects (clubbed feet) Renal failure (in utero)
Potter sequence
Hamartomas of the CNS and skin, Angiofibroma, mitral regurgitation, ash-leaf spots, cardiac rhabdomyoma, autosomal dominant, mental retardation, renal angiomyolipoma, seizures, shagreen patches, increased incidence of giant cell astrocytomas and unfurl fibromas
tuberous sclerosis; TSC1 Chr 9; TSC2 on Christmas 16
Mutation associated with Hirschsprung Disease
RET mutation; failure of the Aurebach and Meissner plexus
Nucleotide Excision Repair
Xeroderma pigments
Mismatch Repair
Lynch syndrome (HNPCC)
Polymorphism of Apolipoprotein E
Alzheimers
Prion disease (PrPsc)
Creutzfeldt Jakob; mad cow disease- bovine; kuru-canabilism
recurrent infection with Neisseria species
MAC complex deficiency/ terminal complement deficiency
Increased risk of SLE; severe, recurrent pyogenic infections
C1-4 defiinecy
hereditary angioedema; increased levels of bradykinin
C1 esterase deficiency (increased C5a and C3a- uncontrolled)
low testosterone; high FSH, high LH, decreased inhibin
Klinefelter: Dysgenesis of the seminiferous tubules leading to testicular atrophy (both sertoli and leydig cell dysfunction); decreased Testosterone–> no feedback increased LH, decreased inhibin B–> Increased FSH; mosaic patients have low sperm count; somatic–> azoospermia
Low voltage EKG with diminished QRS amplitude
Restrictive Cardiomyopathy
Low Voltage QRS with electrical alternans; pulsus paradoxus
Cardiac tamponade; fall >10mmHg in systolic pressure on insipiration
Complication of MI within 24 hrs
ventricular Arrythmia causing sudden death
Complication of MI within 1-3 days
Post-infarction fibrinous pericarditis
Complication of MI within 2-7 days
Papillary muscle rupture
complication of MI within 3-5 days
Interventricular Septal rupture
Complication of MI within 3-14 days
Ventricular Pseudoaneurysm
Complication of MI within 5-14 days
Ventricular Free Wall rupture
Occurs 2 weeks after MI
True ventricular aneurysm
Complication of MI several Weeks later
Dressler Syndrome: autoimmune attack resulting in fibrinous pericarditis
This vitamin deficiency results in cheilosis (inflammation of the lips, scaling and fissures at the corners of the mouth) corneal vascularization
Riboflavin; produces FAD and FMN;
required vitamin for succinate dehydrogenase
riboflavin–> FAD and FMN (For ETC)
Pyruvate dehydrogenase (glycolysis to TCA), alph-ketoglutarate dehydrogenase, branched chain ketoacid dehydrogenase and transketolase require which vitamin?
Thiamine pyrophosphate (TPP) derived from thiamine B1
Confusion, opthalmoplegia, ataxia, confabulation, personality change, memory loss, damage to medial dorsal nucleus of the thalamus, mammillary bodies
Wernicke Korsakoff Syndrome
Polyneuropathy, symmetrical muscle wasting
Dry beri beri- thiamine deficiency
light output cardiac failure, edema; Alcoholics
Wet Beri Beri (B-1 deficiency)
Toxin penetration through the blood- nerve barrier causing peripheral neuropathy
Diphtheria toxin
Symmetric proximal muscle weakness involving the shoulder characterized by endomysial inflammation with CD8+ T cells ;
Polymyositis
Night blindness, severe eye dryness and corneal laceration, hyperkeratosis, growth retardation
Vitamin A deficiency (diet, pancreatic insufficiency, Cholestatic/ biliary disease, intestinal malabsorption)
Contraindicated in pregnancy due to its teratogenic nature causes cleft palate
vitamin A (retinol) and valproate
Alopecia, dry skin, hepatic toxicity, hepatomegaly arthralgia, pseudo tumor cerebri
Vitamin A (retinol) Excess
Calcinosis, raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia
CREST Syndrome
involved in segmental organization of the embryo and is the code for transcription factors
Homeobox Gene (Hox)
produced at apical ectodermal ridge; + mitosis of underlying mesoderm providing for lengthening of limbs in utero
Fibroblas growth factor gene
Produced at apical ectodermal ridge, necessary for proper dorsal ventral axis organization; arms can get put on the wrong way
Wnt-7 Gene
Produced at the base of the limb in zone of polarizing activity; involved in patterning along anteroposterior axis and CNS development; holoproscencephaly
Sonic Hedgehog gene
ATP Dependent Efflux Pump seen in adrenocortical carcinoma; pumps out toxin including chemotherapeutic agents
Multidrug Resistance protein 1 (MDR1)
Antibodies against antigens in Purkinje Cells; associated with Small Cell Lung Cancer (anti-HU), gynecologic and breast cancers (Anti-Yo), and Hodgkin Lymphoma (Anti-Tr)
Paraneoplastic Cerebellar degeneration
Kulchitsky Cell
Small cell carcinoma of the lung
Chromagranin A +
Pheo, Small Cell Carcinoma of the lung, Bronchial Carcinoid Tumor of the lung
Proximal extremity weakness that improves with muscle use; associated with small cell lung cancer
Lambert Eaton Syndrome; similar to MG but auto-antibodies are directed against Pre-synaptic Ca2+ channels.
Flexion of the upper extremities and extension of the lower extremities (decorticate posturing)
Associated with lesions about the red nucleus
Extension of the upper and lower extremities (decerebrate posturing)
associated with lesions at or below the red nucleus
Diseases associated with the RET mutation
Hirschsprungs disease, MEN2A, MEN2B (medullary carcinoma)
Marfan Habitus
Homocysteineuria, MEN2B
persistent peptic ulcer disease with parietal hyperplasia
Zollinger-Ellison
Membrane proteins that maintain the integrity of the basolateral membrane by binding to collagen, fibronectin, and laminin
Integrins
Spherules containing endospores
Cocciodiodes immitis
Small oval yeast forms within macrophages
histoplasma capsulatum
Painful genital ulcer with exudate and inguinal lymphadenopathy
Chancroid caused by H ducreyi
Painless ulcer
Primary syphilis
Painless, beefy red ulcer that bleeds readily on contact
Granuloma inguinal caused by klebsiella granulomatis (cytoplasmic donovan bodies)
Painless gental ulcers with painful lymphadenopathy
C trachomatis (L1-L3
Macrophages loaded with PAS + granules; steatorrhea, arthropathy, polyarthritis, psychiatric and cardiac abnormalities
T whipplei- tx with abx
painful abdomen, red tinged urine, polyneuropathy, psychological disturbances, precipitated by drugs (Alcohol, tobacco, CYP450 inducers)
Acute Intermittent Porphyria- Porphobilinogen deaminase deficiency
Anti-Cyclic Citrullinated Antibodies
RA
Anti-Nuclear Antibodies
Sjorgens
Anti-mitochondrial Antibodies
Primary Biliary Cirrhosis
Regression in motor, verbal, and cognitive abilities; ataxia, seizures, growth failure and stereotyped hand wringing- associated with the MECP2 mutation on Chromosome X
Rett Syndrome- Mostly girls, boys die in utero
Self-mutilating behaviors, gout, mental retardation, repetitive involuntary movements, poor muscle control
Lesch-Nyhan syndrome; Deficiency in HGPRT
arthralgia, photosensitivity, glomerulonephritis, elevated PTT, and + VDRL/ RPR for treponema palladium.
Anti-phospholipid Antibody syndrome: Anti-cardiolipin antibodies yield false positive VDRL tests; prolonged PTT–> clots (lupus anticoagulant)
patient with urinary incontinence, gait apraxia, cognitive dysfunction and enlarged ventricles
normal pressure hydrocephalus that is compressing the corona radiata damaging descending cortical fibers running in the paraventricular area
Decreased tear production, decreased saliva production, lymphocytic infiltrate of exocrine glands, parotid enlargement; Anti-nuclear antibodies, anti-ribonucleoprotein antibodies (Anti-SSA and/or Anti-SSB)
Sjorgens Syndrome
Anti-Histadyl tRNA Synthetase Antibodies
Polymyositis
progressive gait ataxia due to spinocerebellar tract degeneration, skeletal abnormalities (kyphscoliosis, per cavus, etc), impaired joint and vibration sense, hypertrophic cardiomyopathy, and DM.
Friedreich Ataxia
Autosomal Recessive Trinucleotide repeat GAAn on Chromosome 9
Friedreich Ataxia
severe hypoplasia of marrow erythroid elements only
Thymoma, parvo B-19, and lymphocytic leukemias
Inhibition of calcineurin preventing IL-2 transcription
Tacrolimus or cyclosporin (nephrotoxicity)
Inhibition of IL-2 gene transcription
glucocorticoids
Inhibition of IL-2 R (immunosuppression Rx)
Daclizumab, Basiliximab
Inhibition of proliferation by blocking IL-2 signal transduction
Sirolimus
Inhibition of IMP dehydrogenase (immunosuppression
Myecophenolate
Inhibition of PRPP amidotransferase
Azathioprine
Anti-bodies against the Alpha 3 chain of the type IV collagen that damage the glomerular basement membrane along with alveoli in the lungs; leads to alveolar hemorrhage and RPGN
Goodpasture Syndrome
Progressive ataxia, impaired proprioception and vibratory sensation, and hemolytic anemia
Vitamin E Deficiency
Thiazide diuretics SAEs
Hypokalemia (banana peele), contraction metabolic alkalosis (squeeze bleach bottle), hyponatremia (NaCl spilled in pool), hyperglycemia (candy jar), hyperlipidemia (elevated butter stick), hyperuricemia (knitting needles), hypercalcemia (elevated calci-yum ice cream)
Loop Diuretic SAEs
ototoxicity (Gong), Hypocalcemia (falling calci-yum ice cream/ rare), hypokalemia (banana peele), hypomagnesia (falling magnets), allergy (sulfa eggs), contraction metabolic alkalosis (squeeze bottle), acute interstitial nephritis (blue ticket kidney jar), and gout (knitting needles)
Anti-dsDNA Antibodies, Anti-Sm Antibodies, and Antiphospholipid antibodies
SLE
Benign liver tumor characterized by blood filled capillary
Cavernous Hemangioma
Benign tumor of the liver that regresses with discontinuation of oral contraceptives or anabolic steroids and histologically characterized by disorganized hepatocytes that do not form the normal lobular architecture
hepatic adenoma
Mutation associated with Burkitt Lymphoma
t(8;14) C-Myc and Ig Heavy Chain
Mutation associated with Marginal Cell Lymphoma
t(11;18) Bcl-2 and Cyclin D1
Mutation association with Mantel Cell Lymphoma
t(11;14) Cyclin D1 with Ig Heavy Chain
Mutation associated with Follicular Lymphoma
t(14; 18) BCl-2 with Ig Heavy Chain
Rash/ Cutaneous lesions, lytic bone lesions with hypercalemia, HTLV1 Infection
Adult T Cell Lymphoma
CD4+ T cell neoplasm that invades the skin causing paltrier micro abscesses
Mycosis fungioides/ Sezary Syndrome
Translocation associated with ALL
t(12;21)
Flow Cytometry of B Cell ALL
tdt+, Cd20+
Flow cytometry of T cell ALL
tdt+, CD2-CD8 +
TRAP stain positive neoplasm (tartrate resistant acid phosphatase) causing bone marrow fibrosis
Hairy Cell Leukemia
Flow cytometry of CLL/SmallLL
Cd20+, CD23+, CD5+
Notable finding of AML bone marrow
auer rods (crystallized MPO); AML is MPO+
translocation associated with APL
t(15;17); mutation of the Retinoic receptor
Treatment for APL
Trans-retinoinc acid (Vitamin A); promotes maturation of promyelocyte
What is the biggest complication of APL
DIC: accumulation of promyelocytes–> increased MPO crystals–> coag cascade–> DIC
Flow Cytometry for Hodgkins Lymphoma
CD15+, CD30+
M spike (IgA or IgG) with no CRAb features
MGUS
M Spike with IgM and symptoms can include raynaud phenomenon, blurred vision, retinal hemorrhage, stroke
Waldenstrom Macroglobulinemia (IgM makes blood hyper viscous)
Lytic bone lesions and skin rash or recurrent otitis media with a mass involving the mastoid bone; S-100 and CD1a positive; Tennis rackets/ birbeck granules
Langherhans Cell Histiocytosis; APCs are immature and do not stimulate T cells via antigen presentation
Abdominal mass that on biopsy shows polygonal cells with abundant clear cytoplasm; Where do they originate from?
Renal Cell Carcinoma originating from the PCT
tumor occurring in the 4th ventricle; perivascular pseudo rosettes
Ependymoma
calcified well circumscribed masses in the frontal lobe; adults; round nuclei with clear cytoplasm surrounded by anastomosing capillaries in a chicken wire patterning
oligodendrogliomas
tumors that arise in the cerebellum showing glial fibrillary acidic protein positive (GFAP+) hairlike processes and eosinophilic intracytoplasmic inclusions
Pilocytic Astrocytoma
Associated with MEN2A and MEN2B; sheets of polygonal cells or spindle-shaped cells with extracellular amyloid deposits derived from calcitonin secreted by neoplastic C cells (parafollicular cells); stain with congo red
Medullary thyroid Carcinoma
Adverse effect of secondhand smoke in children
low birth weight, middle ear disease, and sudden infant death syndrome
Patient with glomerulonephritis and nasal ulcers has anti bodies against what?
Cytoplasmic Anti-Neutrophilic Antibodies; Wegners
Diarrhea, achlorhydria, and hypokalemia that persists with fasting
VIPoma; does not involve ulcers
cafe au last spots, neurofibromas, optic gliomas, pheochromocytoma, lisch nodules (pigmented iris hamartomas)
NF1
