Rapid Review Flashcards
1
Q
Lipid soluble hormones
A
thyroid hormone, steroid hormones (estrogen, aldosterone, cortisol, testosterone, etc,) fat soluble vitamin receptors.
2
Q
Proopiomelanocortin (POMC) is a precursor to what
A
produces beta-endorphin(endogenous opioids); ACTH and MSH (bronze)
3
Q
Somatotropin hormones
A
GH, prolactin
4
Q
Ecthyma gangrenosum
A
pseudomonas; perivascular bacterial invasion of arteries and veins in the dermis with subsequent release of EXOTOXIN causing necrosis and ulcerations (Dalmatian in sketchy)
5
Q
Alpha and Beta interferons (secretion, production, moa?)
A
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.
6
Q
Treatment of hepatic encephalopathy
A
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.
7
Q
Duodenal ulcer
A
Pain better with food, can be caused by H Pylori, very low risk to become malignant; Zollinger Ellison association
8
Q
refractory peptic ulcers with high gastrin secretion (gastrinoma of the duodenum or pancreas), associated with MEN 1, causes GERD, and diarrhea
A
Zollinger Ellison
9
Q
pheochromocytoma vs neuroblastoma
A
neuroblastoma is what its called in children; pheo- is in adults
10
Q
Annular Pancreas
A
abnormal rotation of ventral pancreas–> forms ring encircling part of the duodenum –> narrowing–> obstruction
11
Q
Pancreatic Divisum
A
ventral and dorsal parts fail to fuse at 8 weeks. benign but can cause pancreatitis or abdominal pain
12
Q
Obstructive jaundice with palpable, non-tender gallbladder
A
Courvoisier sign; associated with pancreatic adenocarcinoma
13
Q
Migratory thrombophlebitis- redness, tenderness on palpation fo extremities (migrating DVTs and vasculitis)
A
Trousseau syndrome- associated with pancreatic adenocarcinoma OR adenocarcinoma of the lung
14
Q
Reynolds pentad
A
Jaundice, RUQ pain, fever– all charcot’s triad + altered mental status and shock (hypotension) associated with Ascending cholangitis
15
Q
Charcot triad
A
jaundice, fever, RUQ pain- Ascending cholangitis
16
Q
S Bovis
A
Colon Cancer
17
Q
Crescendo-decrescendo systolic ejection murmur and soft S2 (ejection click may be present)
A
Aortic Stenosis- Systolic Murmur; Pulsus parvus et tarsus- pulses are weak and delayed; radiates to carotids
18
Q
Holosystolic, high pitching “blowing” murmur
A
Mitral (loudest at apex; radiates toward axilla) or tricuspid (loudest at tricuspid area; RV dilation); rheumatic fever infective endocarditis- systolic murmur
19
Q
Late systolic crescendo murmur w/ mid systolic click
A
Mitral Valve prolapse; Marfans, AD-PCKD, fragile-X Syndrome; Ehlers-Danlos- systolic murmur; Chordae rupture, rheumatic fever
20
Q
Holosystolic harsh sounding murmur
A
ventricular septal defect- systolic murmur
21
Q
High pitched Blowing in early diastolic decrescendo murmur
A
Aortic regurgitation; wide pulse pressure, bobbing head, headaches
Etiology: aortic root dilation, bicuspid aortic valve, endocarditis, rheumatic fever
22
Q
Follows opening snap; delayed rumbling mid-to-late diastolic murmur.
A
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
23
Q
Continous machine like murmur
A
PDA; continuous murmur; Loudest at S2
Congenital Rubella or prematurity
24
Q
Acute erosive gastropathy
A
erosion extends into the muscularis mucosa but not beyond it
25
Agraphia, acalculia (unable to carry out simple math), finger agnosia, left-right disorientation
Dominant parietal cortex/ angular gyrus; Gerstmann Syndrome;
26
Agnosia of the contralateral side of the world
hemispatial neglect; non dominant parietal cortex lesion
27
Contralateral hemiballismus
contorting an continuous movements that are asymmetric--> subthalamic nucleus lesion
28
Anterograde amnesia (cant make new memories)
Bilateral hippocampus lesion
29
Vertical gaze palsy, pupillary light-near dissociation, lid retraction, convergence-retraction nystagmus
Parinaud Syndrome; Stroke, hydrocephalus, pinealoma
30
Palpable purpura, abdominal pain, arthralgias, acute glomerulonephritis
Henoch-Schonlein Purpura
31
Microthrombi, thrombocytopenia, microangiopathic hemolytic anemia
Hemolytic Uremic Syndrome causes by E Coli O157:H7 or caused by shigella
32
Presence of iron deficiency anemia, dysphagia, esophageal webs
Plummer Vinson Syndrome; treatment with Fe typically helps resolve symptoms
33
insertion or deletion of any number of nucleotides that are not multiples of 3
Frameshift mutation
34
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
35
Replacement of one amino acid with another of the same characteristics.
conservative mutation
36
Single base change within a codon that does not change the amino acid
silent mutation
37
Mutation that results in a truncated protein
nonsense mutation
38
nutmeg liver; hepatic vein thrombus/ obstruction
Budd Chiari Syndrome
39
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Pulmonary hypoplasia, oligohydroamnios, twisted face, twisted skin, Extremity defects (clubbed feet)
Renal failure (in utero)
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Potter sequence
40
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
41
Mutation associated with Hirschsprung Disease
RET mutation; failure of the Aurebach and Meissner plexus
42
Nucleotide Excision Repair
Xeroderma pigments
43
Mismatch Repair
Lynch syndrome (HNPCC)
44
Polymorphism of Apolipoprotein E
Alzheimers
45
Prion disease (PrPsc)
Creutzfeldt Jakob; mad cow disease- bovine; kuru-canabilism
46
recurrent infection with Neisseria species
MAC complex deficiency/ terminal complement deficiency
47
Increased risk of SLE; severe, recurrent pyogenic infections
C1-4 defiinecy
48
hereditary angioedema; increased levels of bradykinin
C1 esterase deficiency (increased C5a and C3a- uncontrolled)
49
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
50
Low voltage EKG with diminished QRS amplitude
Restrictive Cardiomyopathy
51
Low Voltage QRS with electrical alternans; pulsus paradoxus
Cardiac tamponade; fall >10mmHg in systolic pressure on insipiration
52
Complication of MI within 24 hrs
ventricular Arrythmia causing sudden death
53
Complication of MI within 1-3 days
Post-infarction fibrinous pericarditis
54
Complication of MI within 2-7 days
Papillary muscle rupture
55
complication of MI within 3-5 days
Interventricular Septal rupture
56
Complication of MI within 3-14 days
Ventricular Pseudoaneurysm
57
Complication of MI within 5-14 days
Ventricular Free Wall rupture
58
Occurs 2 weeks after MI
True ventricular aneurysm
59
Complication of MI several Weeks later
Dressler Syndrome: autoimmune attack resulting in fibrinous pericarditis
60
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;
61
required vitamin for succinate dehydrogenase
riboflavin--> FAD and FMN (For ETC)
62
Pyruvate dehydrogenase (glycolysis to TCA), alph-ketoglutarate dehydrogenase, branched chain ketoacid dehydrogenase and transketolase require which vitamin?
Thiamine pyrophosphate (TPP) derived from thiamine B1
63
Confusion, opthalmoplegia, ataxia, confabulation, personality change, memory loss, damage to medial dorsal nucleus of the thalamus, mammillary bodies
Wernicke Korsakoff Syndrome
64
Polyneuropathy, symmetrical muscle wasting
Dry beri beri- thiamine deficiency
65
light output cardiac failure, edema; Alcoholics
Wet Beri Beri (B-1 deficiency)
66
Toxin penetration through the blood- nerve barrier causing peripheral neuropathy
Diphtheria toxin
67
Symmetric proximal muscle weakness involving the shoulder characterized by endomysial inflammation with CD8+ T cells ;
Polymyositis
68
Night blindness, severe eye dryness and corneal laceration, hyperkeratosis, growth retardation
Vitamin A deficiency (diet, pancreatic insufficiency, Cholestatic/ biliary disease, intestinal malabsorption)
69
Contraindicated in pregnancy due to its teratogenic nature causes cleft palate
vitamin A (retinol) and valproate
70
Alopecia, dry skin, hepatic toxicity, hepatomegaly arthralgia, pseudo tumor cerebri
Vitamin A (retinol) Excess
71
Calcinosis, raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia
CREST Syndrome
72
involved in segmental organization of the embryo and is the code for transcription factors
Homeobox Gene (Hox)
73
produced at apical ectodermal ridge; + mitosis of underlying mesoderm providing for lengthening of limbs in utero
Fibroblas growth factor gene
74
Produced at apical ectodermal ridge, necessary for proper dorsal ventral axis organization; arms can get put on the wrong way
Wnt-7 Gene
75
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
76
ATP Dependent Efflux Pump seen in adrenocortical carcinoma; pumps out toxin including chemotherapeutic agents
Multidrug Resistance protein 1 (MDR1)
77
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
78
Kulchitsky Cell
Small cell carcinoma of the lung
79
Chromagranin A +
Pheo, Small Cell Carcinoma of the lung, Bronchial Carcinoid Tumor of the lung
80
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.
81
Flexion of the upper extremities and extension of the lower extremities (decorticate posturing)
Associated with lesions about the red nucleus
82
Extension of the upper and lower extremities (decerebrate posturing)
associated with lesions at or below the red nucleus
83
Diseases associated with the RET mutation
Hirschsprungs disease, MEN2A, MEN2B (medullary carcinoma)
84
Marfan Habitus
Homocysteineuria, MEN2B
85
persistent peptic ulcer disease with parietal hyperplasia
Zollinger-Ellison
86
Membrane proteins that maintain the integrity of the basolateral membrane by binding to collagen, fibronectin, and laminin
Integrins
87
Spherules containing endospores
Cocciodiodes immitis
88
Small oval yeast forms within macrophages
histoplasma capsulatum
89
Painful genital ulcer with exudate and inguinal lymphadenopathy
Chancroid caused by H ducreyi
90
Painless ulcer
Primary syphilis
91
Painless, beefy red ulcer that bleeds readily on contact
Granuloma inguinal caused by klebsiella granulomatis (cytoplasmic donovan bodies)
92
Painless gental ulcers with painful lymphadenopathy
C trachomatis (L1-L3
93
Macrophages loaded with PAS + granules; steatorrhea, arthropathy, polyarthritis, psychiatric and cardiac abnormalities
T whipplei- tx with abx
94
painful abdomen, red tinged urine, polyneuropathy, psychological disturbances, precipitated by drugs (Alcohol, tobacco, CYP450 inducers)
Acute Intermittent Porphyria- Porphobilinogen deaminase deficiency
95
Anti-Cyclic Citrullinated Antibodies
RA
96
Anti-Nuclear Antibodies
Sjorgens
97
Anti-mitochondrial Antibodies
Primary Biliary Cirrhosis
98
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
99
Self-mutilating behaviors, gout, mental retardation, repetitive involuntary movements, poor muscle control
Lesch-Nyhan syndrome; Deficiency in HGPRT
100
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)
101
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
102
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
103
Anti-Histadyl tRNA Synthetase Antibodies
Polymyositis
104
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
105
Autosomal Recessive Trinucleotide repeat GAAn on Chromosome 9
Friedreich Ataxia
106
severe hypoplasia of marrow erythroid elements only
Thymoma, parvo B-19, and lymphocytic leukemias
107
Inhibition of calcineurin preventing IL-2 transcription
Tacrolimus or cyclosporin (nephrotoxicity)
108
Inhibition of IL-2 gene transcription
glucocorticoids
109
Inhibition of IL-2 R (immunosuppression Rx)
Daclizumab, Basiliximab
110
Inhibition of proliferation by blocking IL-2 signal transduction
Sirolimus
111
Inhibition of IMP dehydrogenase (immunosuppression
Myecophenolate
112
Inhibition of PRPP amidotransferase
Azathioprine
113
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
114
Progressive ataxia, impaired proprioception and vibratory sensation, and hemolytic anemia
Vitamin E Deficiency
115
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)
116
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)
117
Anti-dsDNA Antibodies, Anti-Sm Antibodies, and Antiphospholipid antibodies
SLE
118
Benign liver tumor characterized by blood filled capillary
Cavernous Hemangioma
119
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
120
Mutation associated with Burkitt Lymphoma
t(8;14) C-Myc and Ig Heavy Chain
121
Mutation associated with Marginal Cell Lymphoma
t(11;18) Bcl-2 and Cyclin D1
122
Mutation association with Mantel Cell Lymphoma
t(11;14) Cyclin D1 with Ig Heavy Chain
123
Mutation associated with Follicular Lymphoma
t(14; 18) BCl-2 with Ig Heavy Chain
124
Rash/ Cutaneous lesions, lytic bone lesions with hypercalemia, HTLV1 Infection
Adult T Cell Lymphoma
125
CD4+ T cell neoplasm that invades the skin causing paltrier micro abscesses
Mycosis fungioides/ Sezary Syndrome
126
Translocation associated with ALL
t(12;21)
127
Flow Cytometry of B Cell ALL
tdt+, Cd20+
128
Flow cytometry of T cell ALL
tdt+, CD2-CD8 +
129
TRAP stain positive neoplasm (tartrate resistant acid phosphatase) causing bone marrow fibrosis
Hairy Cell Leukemia
130
Flow cytometry of CLL/SmallLL
Cd20+, CD23+, CD5+
131
Notable finding of AML bone marrow
auer rods (crystallized MPO); AML is MPO+
132
translocation associated with APL
t(15;17); mutation of the Retinoic receptor
133
Treatment for APL
Trans-retinoinc acid (Vitamin A); promotes maturation of promyelocyte
134
What is the biggest complication of APL
DIC: accumulation of promyelocytes--> increased MPO crystals--> coag cascade--> DIC
135
Flow Cytometry for Hodgkins Lymphoma
CD15+, CD30+
136
M spike (IgA or IgG) with no CRAb features
MGUS
137
M Spike with IgM and symptoms can include raynaud phenomenon, blurred vision, retinal hemorrhage, stroke
Waldenstrom Macroglobulinemia (IgM makes blood hyper viscous)
138
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
139
Abdominal mass that on biopsy shows polygonal cells with abundant clear cytoplasm; Where do they originate from?
Renal Cell Carcinoma originating from the PCT
140
tumor occurring in the 4th ventricle; perivascular pseudo rosettes
Ependymoma
141
calcified well circumscribed masses in the frontal lobe; adults; round nuclei with clear cytoplasm surrounded by anastomosing capillaries in a chicken wire patterning
oligodendrogliomas
142
tumors that arise in the cerebellum showing glial fibrillary acidic protein positive (GFAP+) hairlike processes and eosinophilic intracytoplasmic inclusions
Pilocytic Astrocytoma
143
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
144
Adverse effect of secondhand smoke in children
low birth weight, middle ear disease, and sudden infant death syndrome
145
Patient with glomerulonephritis and nasal ulcers has anti bodies against what?
Cytoplasmic Anti-Neutrophilic Antibodies; Wegners
146
Diarrhea, achlorhydria, and hypokalemia that persists with fasting
VIPoma; does not involve ulcers
147
cafe au last spots, neurofibromas, optic gliomas, pheochromocytoma, lisch nodules (pigmented iris hamartomas)
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