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Questions (Random) - Kaplan Flashcards

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1
Q

Newborn, coarse facial features (thick gums, large tongue, etc.), clouded corneas, dislocations, clubbing of feet, immobilization. High plasma levels of lysosomal enzymes.

Problem?

A

I-cell disease (mucolipidosis type 2) – AR lysosomal storage disease

  • N-acetylglucosaminyl-1-phosphotransferase defect
  • Can’t phosphorylate mannose residues on glycoproteins
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2
Q

Hemorrhage and necrosis in the centrilobular regions of liver parenchyma, no fibrosis or steatosis. Mottled/spotted pattern on cross-section.

A

Chronic CHF – NUTMEG LIVER (congestive hepatopathy)

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3
Q

Baby, delayed motor development, spasticity, self-mutilation (biting fingers, banging head), nephropathy

Defect?
Build-up?
Treatment?

A

Lesch-Nyhan syndrome

HPRT/HGPRT (can’t recycle purines)
Uric acid (MSU)
Allopurinol (XO inhibitor)

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4
Q

Baby, HSM, erosion/fractures of bone, thrombocytopenia/pancytopenia, crumpled-paper inclusions in macrophages

Defect?
Build-up?

A

Gaucher’s disease

Glucocerebrosidase
Glucocerebroside

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5
Q

Baby, megaloblastic anemia that does not respond to B12/folate supplementation. Accumulation of crystals in urine.

Defect?
Build-up?

A

Orotic aciduria

Defective pyrimidine synthesis
Orotic acid

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6
Q

Marfan vs. Ehlers Danlos vs. Homocysteinuria

A

M = Upward lens dislocation, usual S/S

ED = skin hyperextensibility, abnorma wound healing

H = Downward lens dislocation, hypercoaguable, mental issues

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7
Q 
Metabolic alkalosis
Hyperglycemia
Hyperlipidemia
Hyperuricemia
Hypercalcemia
A

HCTZ overdose (HyperGLUC)

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8
Q 
Basophilic stippling
Neuropathy
Anemia
Kidney dysfunction
Abdominal pain
A

Chronic lead toxicity

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9
Q

CNS atrophy
Gingivitis
Gastritis
Renal tubular changes

A

Chronic mercury toxicity

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10
Q

Child, mid-systolic ejection murmur at L upper sternal border, fixed splitting of S2

A

Atrial septal defect

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11
Q

Latent viruses in the…

  • Trigeminal ganglia
  • Sacral ganglia
  • Dorsal root ganglia
  • B cells
  • Mononuclear cells
A
  • HSV1 (oral)
  • HSV2 (genital)
  • VZV
  • EBV
  • CMV
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12
Q

MoA of…

  • Isoproterenol
  • Atropine
  • Norepinephrine
  • Epinephrine
  • Phentolamine
A 
Iso -- Beta1 = Beta2 agonist
Atro -- Muscarinic antagonist
Nor -- Alpha1 > alpha2 > beta agonist
Epi -- Beta > Alpha agonist
Phen -- Alpha antagonist
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13
Q

Hemophilia A and B – inheritance?

A

X-linked recessive

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14
Q

Treatment for Lyme disease

A

Doxycycline

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15
Q

Tamoxifen vs. Raloxifene…

  • Bone
  • Breast
  • Endometrium
A

BOTH = agonist at bone, antagonist at breast

Tamoxifen = agonist at endometrium
Raloxifene = antagonist at endometrium
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16
Q

Baby, mental deterioration, atrophy, difficulty swallowing, easily startled, cherry red spots

Defect?
Build-up?
Inheritence?

A

Tay-Sachs

HEXA (Hexosaminidase A)
GM2 gangliosides - in neurons
Autosomal recessive

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17
Q

How to calculate interstitial fluid volume via Albumin VOD (volume of distribution) and Inulin VOD?

A

Inulin VOD = extracellular fluid volume
Albumin VOD = plasma fluid volume
Interstitial fluid volume = ECF - plasma volume

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18
Q

E-cadherin mutation (CDH1) – susceptible for?

Forms what molecular structure between cells?

A

Infiltrating lobular carcinoma
Gastric adenocarcinoma

Adherens junctions

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19
Q

APC – what type of mutation is required for the syndrome to occur?

What does the gene do?

A

LOSS (deletion, etc.)

Degrades catenin, thus inhibits cellular proliferation

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20
Q

AIRE mutation

A

Autoimmune hypoparathyroidism

  • Mucocutaneous candidiasis
  • Hypocalcemia
  • Other impaired endocrine organs
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21
Q

MHC class 2 deficiency

SCID

A

ads

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22
Q

Causes of DIC

A
  • Trauma
  • Obstetric complications
  • Malignancy
  • Pancreatitis
  • Nephrotic syndrome (loss of AT3)
  • Gram (-) sepsis
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23
Q

DIC…see what on PBS?

Why?

See these in what else?

A

Helmet cells, schistocytes

Microangiopathic hemolytic anemia

HUS, TTP, mechanical heart valves

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24
Q

DIC…symptoms

A 
Bleeding from mucosal surfaces
Thrombocytopenia
High PT and PTT
Low fibrinogen
High fibrin split products (D-dimer)
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25
What is a Pearson correlation?
Seeing if there is a relationship between 2 variables, if the relationship is direct or inverse, and how close the relationship is. 'r' = -1 or 1 when the relationship is perfectly linear
26
What is a t-test used for? Example?
Comparing the means of 2 groups of data Ex. Average BP of men vs. women
27
What is an ANOVA used for? Example?
Comparing the means of 3+ groups of data Ex. Average BP of 3+ different age groups
28
What is a Chi-square used for? Example?
Comparing percentages or proportions of 2+ groups of data Ex. Percentage of each ethnic group w/ HTN
29
What can be seen in a baby after gestational uncontrolled diabetes? (w/ causes for each) (3)
- Macrosomia (insulin = anabolic) - RDS (insulin inhibits surfactant) - Transposition of great vessels
30
Causes of CONGENITAL cyanosis
5 T's - Truncus arteriosis - Tricuspid atresia/stenosis - Tetralogy of Fallot - Transposition of great vessels - Total anomalous venous return
31
How to fully diagnose HIV positivity? If the result is questionable? Common first positive finding upon infection?
Positive HIV ELISA + Positive Western Blot for 2+ antigens (gp120, gp41, p24) Confirm or deny w/ RT-PCR P24 antigen and anti-p24 antibodies
32
``` Teenage girl Inguinal hernia Amenorrhea Immature female external genitalia No uterus ``` Explain.
Androgen insensitivity syndrome - Genotypic male (w/ testes) - Female external genitalia forms as DEFAULT - No internal genitalia (except 1º) form b/c no androgens
33
Infant w/ hyponatremia and hyperkalemia OR Child w/ precocious puberty and virilization Explain. Elevated labs?
21-hydroxylase deficiency Aldosterone and Cortisol inhibited, EXCESS ANDROGENS 17-hydroxyprogesterone, renin
34
Ambiguous genitalia, undescended testes, no 2º sex characteristics, hypertension, hypokalemia Explain.
17-hydroxylase deficiency No androgens
35
Virilization, hypertension, low renin, low cortisol Explain.
11-beta-hydroxylase deficiency No cortisol, excess 11-deoxycorticosterone (MC), excess androgens
36
Incomplete genital plate canalization
Imperforate hymen
37
Painful, enlarged lymph node Variable fevers, chills No other abnormal signs or labs Pathology of LN = necrosis w/ granuloma
Cat-Scratch Disease (Bartonella henselae)
38
When are soap-based products particularly preferred over the alcohol-based gels for hand-washing?
Spore-forming bacteria
39
X-linked recessive disorders
Oblivious Female Will Often Give Her Boys Her x-Linked Disorders ``` Ornithine transcarbamylase deficiency Fabry disease Wiskott-Aldrich syndrome Ocular albinism G6PD deficiency Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch-Nyhan syndrome Duchenne/Becker muscular dystrophy ```
40
How to calculate total peripheral resistance using MAP, CO, and RAP How to remember this?
``` CO = (MAP-RAP)/TPR TPR = (MAP-RAP)/CO ``` P = QR (alphabetical)
41
Leukocyte adhesion deficiency... - What is it? - Mutation? - Symptoms?
Impaired neutrophil extravasation into tissues Defect in LFA1 (beta-2 integrins, CD11/18) Recurrent bacterial and fungal infections Delayed wound healing
42
Metoprolol...common side effect? (not related to sympathetics)
Dyslipidemias
43
The bulbis cordis becomes what? The sinus venosus becomes what (R and L)?
Smooth part of R (conus arteriosus) and L (aortic vestibule) ventricles ``` R = smooth part of R atrium (sinus venarum) L = coronary sinus, oblique vein of L atrium ```
44
Infections that can be passed via DIRECT CONTACT?
- C. diff., E. coli O157:H7 - RSV, HSV, enterovirus, parainfluenza - Impetigo - MRSA, VRE - Scabies - Staph and group A strep (skin)
45
Good drug class for allergies? Members? What side effects are possible? (3) Which ones for each?
Anti-histamines -- diphenhydramine, promethazine, chlorpheniramine, meclizine, cetirizine, loratadine, fexofenadine Antimuscarinic (the first 4) Sedation (the first 4 especially) Anti-motion sickness (meclizine, diphenhydramine)
46
Decongestants w/ alpha-1 agonist activity Should NOT be used in who?
Phenylephrine Ephedrine Pseudephedrine BPH or HTN
47
Fever Vesicular rash w/ macules, papules, pustules, and scabs all present together. Started on trunk. Unvaccinated or hasn't had boosters in years
Chickenpox -- VZV
48
Erythematous sandpaper-like rash w/ fever and sore throat
Scarlet fever (strep pyogenes)
49
Pink coalescing macules on head that move downward as desquamating rash w/ LAD If in a fetus?
Rubella Rash, LAD, polyarthritis (of mom) Cataracts, deafness, patent PDA (in baby)
50
Cough, stuffy nose, conjunctivitis, spots on buccal mucosa | Later, rash on head that spreads down.
Measles (koplik spots)
51
Several days of high fever, followed by rose-colored macules on body
Roseola (HHV6)
52
Oval-shaped vesicles on palms and soles, vesicles and ulcers in oral mucosa
Hand-Foot-Mouth (Coxsackie A)
53
Chorioretinitis, hydrocephalus, intracranial calcifications
Toxoplasma gondii
54
Hallucinations upon waking or upon falling asleep Paralysis during hallucinations Explain.
Narcolepsy Intrusion of REM sleep into the waking period, causing hallucinations (like dreams) and paralysis (b/c paralyzed during REM sleep)
55
How does PCO2 level relate to cerebral blood flow?
High PCO2 = increased blood flow, decreased resistance | Low PCO2 = decreased blood flow, increased resistance
56
Mental status changes Tachycardia Hypoxemia (low O2 sat) What else might be in the stem?
Pulmonary embolism Recent trauma or long stasis/immobility
57
Muscle wasting, cataracts, heart block Mutation?
Myotonic dystrophy CTG repeats in DMPK protein
58
A man with advanced AIDS has which type of anti-HIV immunoglobulins? Why?
IgM... (1) Too few T-cells left to promote advanced Ig production (2) Constant-changing envelope antigens (gp) = new Abs
59
What are microvilli? Where? Composed mainly of what? Genetic mutation in infant? Presents like what?
Small projections in GI tract to increase surface area Composed of actin/myosin microfilaments MYO5B mutation (myosin Vb) = MICROVILLUS ATROPHY = secretory diarrhea in newborn
60
``` Baby/child w/ vomiting, tachypnea, lethargy Recently drank cow's milk (example) High ammonium level in the blood No citrulline High urine orotic acid High plasma glutamine ``` Explain? Why the orotic acid? Why the glutamine? What are the symptoms from?
Ornithine transcarbamylase (OTC) deficiency Deficient UREA CYCLE, thus build-up of ammonium Escape of excess carbamoyl phosphate --> pyrimidine synthesis --> OROTIC ACID SYNTHESIS Liver tries to rid of ammonium by making glutamine Symptoms = HEPATIC ENCEPHALOPATHY
61
Mental retardation High urine orotic acid Hypochromic, megaloblastic anemia refractory to folate/B12
UMP synthase deficiency (pyrimidine synthesis)
62
``` Baby/child w/ vomiting, tachypnea, lethargy Recently drank cow's milk (example) High ammonium level in the blood No citrulline High plasma glutamine Normal orotic acid level ```
Carbamoyl phosphate synthetase deficiency (urea cycle)
63
Causes of renal papillary necrosis
POSTCARDS (Send postcards to the dying papillae) - Pyelonephritis - Obstruction of tract - Sickle cell - TB - Chronic liver disease - Analgesic/alcohol abuse - Renal transplant rejection - Diabetes mellitus - Systemic vasculitis
64
Sounds like anthrax eschar | Gram negative rods
Pseudomonas -- ecthyma gangrenosum
65
Increased pyruvate, lactate, alanine, and ketoacids
``` Pyruvate carboxylase (formation of oxaloacetate) deficiency - Can't start the Krebs cycle ```
66
Sickle cell disease Renal papillary necrosis What arteries are most likely affected? Why?
Sickle cell nephropathy VASA RECTA -- high osmolarity, low O2 in the renal medulla causes sickling --> necrosis of papillae
67
What is released by muscles during exercise that leads to vasodilation (BEFORE N.O. is produced)?
Adenosine, K+, lactic acid
68
Fever, confusion, thrombocytopenia, renal failure, petechiae
TTP - pentad - ADAMTS 13 protease deficiency
69
CGD - what is it? Susceptible to what? Main ones? (5)
NADPH oxidase deficiency Susceptible to CATALASE-POSITIVE organisms... - Staph aureus - Aspergillus - Salmonella - Nocardia - Candida
70
Major bacteria w/ protective capsules
Some Killers Have Pretty Nice Capsules - Strep pneumoniae - Klebsiella - Haemophilus influenza - Pseudomonas - Neisseria meningitidis - Cryptococcus
71
What is a... - Prophage - Bacteriophage
Prophage = repressed temperate phage DNA w/in a bacterial chromosome that gives it additional Bacteriophage = virus that infects bacteria and may provide a virulence factor for that bacteria
72
2 examples of drug-resistance that come from bacteriophage
Staph aureus -- Vancomycin resistance | Pseudomonas -- Imipenem resistance
73
What is a transposon? Most common cause for developing what?
Mobile segments of DNA that can "jump" into different DNA strands through the use of a transposase enzyme Multi-drug resistance
74
Examples of bacterial toxins that come from lysogenic conversion (via a phage)?
- Cholera toxin - Strep pyogenes pyrogenic exotoxin (Scarlet fever) - Shigella dysentery toxin - Diphtheria toxin
75
A child develops shingles. He is being treated for cancer w/ chemo. His mom has a history of a rash while pregnant. What is the most likely explanation? What causes the reactivation? (2)
Mother got varicella during 3rd trimester, passing antibodies to child. Child was exposed to VZV, never developed a strong immune response. Reactivation happened earlier than normal. Immunocompromised (ex. chemo) or stress
76
Why can influenza viruses create new strains of itself (ex. H1N1)?
Segmented genome --> can go through "recombination" of its genome when co-infected w/ another influenza strain
77
HSV encephalitis...finding on MRI? CSF findings?
TEMPORAL LOBE localization Elevated lymphocytes and protein, normal glucose
78
Encephalitis, summer months, viral CSF findings...suspect what?
Arthropod (mosquito) born viruses | - SLEV, WNEV, EEV, WEV
79
Encephalitis vs. meningitis
Meningitis -- normal cognitive function Encephalitis -- cognitive, motor, and sensory deficits; seizures; AMS
80
Child has a rash on cheeks that progress to net-like pattern on body
Fifth disease - Parvo B19
81
Fever, headache, malaise, rash on palms and soles. Spent time outside recently. Vector? Also can carry what?
RMSF Wood tick (Dermacentor) Francisella tularensis
82
Unreactive nitroblue tetrazolium test Means what? Organisms?
CGD - deficiency of NADPH oxidase Subject to catalase-positive organisms (pyogenic organisms) Staph aureus, Serratia, E. coli, Aspergillus, Candida
83
Defective tyrosine kinase
Bruton X-linked hypogammaglobulinemia Lack of B cell maturation, very few antibodies Subject to extracellular organisms
84
Defective IL-2 receptor
Severe combined immunodeficiency -- NO immune response possible
85
Thrombocytopenia, immunodeficiency, eczema Defect type?
Wiskott-Aldrich (WAS protein) Cytoskeletal defect
86
Drug causes of SIADH How to remember?
Carbamazepine, Cyclophosphamide, SSRIs "Can't Concentrate Serum Sodium"
87
Drug causes of Fanconi syndrome
Tenofovir, Ifosfamide
88
Drug causes of hemorrhagic cystitis
Cyclophosphamide, Ifosfamide
89
Drug causes of diabetes insipidus
Lithium, Demeclocycline
90
Drug causes of hyperglycemia How to remember?
Tacrolimus, Protease inhibitors, Niacin, HCTZ, Corticosteroids Taking Pills Necessitates Having glucose Checked
91
Drugs causing hypothyroidism
Lithium, Amiodarone, Sulfonamides
92
Drugs causing hot flashes
Tamoxifen, Clomiphene
93
Muscarinic AChRs...receptor type?
GPCR
94
Drugs that inhibit P450 How to remember?
Acute Alcohol Abuse, Ritonavir, Amiodarone, Cimetidine/Ciprofloxacin, Ketoconazole, Sulfonamides, INH, Grapefruit, Quinidine, Macrolides AAA RACKS IN GQ Magazine
95
Drugs that induce P450 How to remember?
Chronic alcohol, St. Johns wart, Phenytoin, Phenobarbitol, Nevirapine, Rifampin, Griseofulvin, Carbamazepine Chronic Alcoholics Steal Phen-Phen And Never Refuse Greasy Carbs
96
Drugs that cause seizures How to remember?
Isoniazid, Bupropion, Imipenem, Tramadol, Enfluorane With seizures, I BITE my tongue
97
Drugs that cause Parkinson rigidity How to remember?
Antipsychotics, Reserpine, Metoclopramide Cogwheel rigidity of the ARM
98
Drugs that cause interstitial nephritis
Furosemide, NSAIDs, Methicillin
99
Drugs causing coronary vasospasm
Cocaine, Sumatriptan, Ergot alkaloids
100
Drugs causing flushing How to remember?
Vancomycin, Adenosine, Niacin, CCBs, Echinocandins VANCE
101
Drugs that cause dilated cardiomyopathy
Anthracyclines (Doxorubicin, daunorubicin)
102
Drugs that cause Torsade de Pointes How to remember?
``` AntiArrhythmics (1a, 3) AntiBiotics (Macrolides) AntiCychotics (Haloperidol) AntiDepressants (TCAs) AntiEmetics (Ondansetron) ``` ABCDE
103
Pufferfish toxin...name? Symptoms?
Tetrodotoxin Binds fast VG sodium channels in nerve/heart --> N/D, paresthesias, weakness, dizziness, loss of DTRs
104
Symptoms of cholinergic poisoning, just went out for seafood. What did he eat? Cause?
Ciguatoxin -- barracuda, snapper, moray eel Opens Na channels, causing depolarization
105
Patient thinks he's allergic to fish. Anaphylactic-like reaction upon eating dark fish (tuna, mahi, mackerel, bonito)
Scombroid poisoning (histamine) -- converted from histidine by bacterial enzyme --> anaphylaxis-like reaction
106
Direct Coomb's positive hemolytic anemia...drug causes?
Methyldopa, Penicillin
107
How to remember selective vs. nonselective beta blockers?
Selective (beta-1) = A-M | Nonselective (1 and 2) = N-Z
108
Heart, kidney, skin, brain masses...disease?
Tuberous sclerosis
109
Side effects of lithium
Tremor Hypothyroidism Nephrogenic DI Ebstein anomaly
110
``` Red spots on face and palate History of nose bleeds History of seizures History of melena Polycythemia Presents with severe headache ``` Disease? Current headache?
Hereditary hemorrhagic telangiectasias (HHT) Subarachnoid hemorrhage due to ruptured AVM
111
Risk factors for neural tube defects
``` Folate deficiency Maternal diabetes Antiepilepsy drugs (Valproate, Carbamazepine) ```
112
Myeloschisis vs. Myelomeningocele -- labs
Schisis = increased AFP and AChE | MM, meningocele = increased AFP only
113
Tuberous sclerosis...lesions?
``` Cortical/subcortical tubers Subependymal nodules Cardiac rhabdomyoma Cortical and retinal hamartoma Renal angiomyolipoma Adenoma sebaceum Ash-leaf spots Giant cell astrocytomas Mental retardation/seizures ```
114
Von Hippel Lindau...lesions?
Retinal hemangioblastomas Renal cell carcinoma Pheochromocytoma Polycythemia
115
What is the VHL gene?
Tumor suppressor gene for HIF, which causes cell survival and vascular proliferation
116
NF1...lesions?
CAFE SPOT - Cafe au lait spots, axillary freckling, eye lesions (Lisch nodules), scoliosis, pheo, optic tumors (glioma)
117
NF2...lesions?
Acoustic neuromas (b/l), meningioma, juvenile cataracts
118
Sturge-Weber disease
``` Port wine stain Vascular lesion in V1/V2 dermatome Leptomeningeal vascular malformation Cortical calcifications Glaucoma Seizures ```
119
Girl recently started her period, now has high fever, nausea, diarrhea, and a diffuse erythematous rash all over her body
Toxic shock syndrome (from tampon) -- Staph. aureus
120
Shellfish, chronic liver disease, watery diarrhea, fluid-filled vesicles on legs, hypotension, death
Vibrio vulnificus
121
Functions of anaphylatoxins
- Degranulation - SM contraction - Chemotaxis
122
Patient with low BP, altered mental status, fever, warm extremities...blood cultures w/ E. coli Most important immunology factor? Why is the BP low? Why are the extremities warm?
Septic shock (via gram (-) LPS lipid A) TNF-alpha (--> IL-1, IL-6, etc.) Systemic vasodilation --> low BP Increased blood to extremities --> warm skin
123
Why are extremities cool in certain types of shock?
Decreased C.O. (hypovolemic, cardiogenic) --> reflex vasoconstriction --> less blood flow --> cool skin
124
Increased C3a, C5a, histamine...cause?
Type 1 hypersensitivity (ex. anaphylaxis)
125
What is the APACHE II score?
Score used to predict hospital mortality based on the worst variables during the initial 24 hours in the ICU
126
Boy w/ long flat face, flat feet, large ears, heart murmur, flapping hands and chewing on them What is it?
Fragile X Syndrome CGG repeat
127
Which trinucleotide repeat diseases have which repeat? What genes go with each?
X-Girlfriend's First Aid Helped Ace My Test Fragile X = cGg (FMR1) Friedreich ataxia = gAa (FXN) Huntington = cAg (Huntingtin) Myotonic dystrophy = cTg
128
``` Chromosome 16 Chromosome 5q Chromosome 4 Chromosome 17q Chromosome 15 Chromosome 22q Chromosome 3p ``` What are all of these?
``` 16 = ADPKD (1) 5q = FAP 4 = Huntington (Huntingin) 17q = NF-1 15 = Marfan (fibrillin) 22q = NF-2 3p = VHL ``` AUTOSOMAL DOMINANT
129
Chromosome 7 | Chromosome 13
CF | Rb
130
Autosomal recessive diseases
``` Albinism ARPKD CF Glycogen storage diseases Hemochromatosis Kartagener syndrome Mucopolysaccharidoses (except Hunter) PKU Sickle cell Sphingolipidoses (except Fabry) Thalassemias Wilson's ```
131
Down syndrome...increased risk for what cancers? Most cases of DS due to what genetics?
ALL, AML Meiotic nondisjunction (in older age women)
132
Mental disability, rocker-bottom feet, small jaw, low-set ears, clenched hands w/ overlapping fingers, prominent occiput, heart disease Findings on screening?
Trisomy 18 (Edwards syndrome) 1st trimester = low PAPP-A, low free beta-HCG Quad screen = low AFP, low beta-HCG, low estriol, low/normal inhibin A
133
Mental disability, rocker-bottom feet, small eye(s), small head, cleft lip/palate, holoprosencephaly, polydactyly, heart disease, missing skin in areas 1st trimester screening results?
Trisomy 13 (Patau syndrome) Low free beta-HCG, low PAPP-A
134
High nuchal translucency, hypoplastic nasal bone
Down syndrome
135
1st trimester = low PAPP-A, high beta-HCG
Down syndrome
136
Quad screen = low AFP, high beta-HCG, low estriol, high inhibin A
Down syndrome
137
Microcephaly, mental disability, high-pitched cry, epicanthal folds, ventricular septal defect Genetics?
Crit-du-chat Microdeletion on 5p
138
Chromosome 3
VHL, RCC
139
Chromosome 4
ADPKD (2), achondroplasia, Huntington
140
Chromosome 5
Cri-du-chat, FAP
141
Chromosome 6
Hemochromatosis (HFE)
142
Chromosome 7
WIlliams syndrome, CF
143
Chromosome 9
Friedreich ataxia
144
Chromosome 11
Wilms tumor, sickle cell, beta-thalassemia
145
Chromosome 13
Patau, Wilson disease, Retinoblastoma, BRCA2
146
Chromosome 15
Prader-Willi, Angelman, Marfan
147
Chromosome 16
ADPKD (1), alpha-thalassemia
148
Chromosome 17
NF-1, BRCA-1
149
Chromosome 18
Edwards
150
Chromosome 21
Down syndrome
151
Chromosome 22
NF-2, DiGeorge (22q11)
152
X chromosome
Fragile X, X-linked agammaglobulinemia, Klinefelter (XXY)
153
Prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips
Elfin facies (Williams syndrome -- chromosome 7)
154
Prominent forehead, upturned nose, small mandible, hypercalcemia, very friendly with strangers, cardiovascular problems
Williams syndrome - chromosome 7
155
Stapedius muscle innervation Relevance?
Facial nerve (CN 7) Facial nerve lesion --> hyperacusis
156
Spinal muscular atrophy type 1...other name? What is it? Causes what?
Werdnig-Hoffman syndrome Failure to turn OFF perinatal apoptosis mechanism Denervation (LMN) to muscles --> hypotonia, poor suckling, respiratory failure, etc.
157
Tacrolimus
Macrolide immunosuppressant from Streptomyces tsukubaensis...inhibits calcineurin-mediated transcription of IL-2
158
Daclizumab, Basiliximab
Antibodies...IL-2 receptor inhibitors
159
Involuntary muscle twitching Non-rhythmic conjugate eye movements An abdominal mass that crosses the midline What will be seen on labs?
Neuroblastoma -- opsoclonus-myoclonus syndrome Elevated homovanillic acid Amplified N-myc
160
Why do Japanese people commonly have gastric adenocarcinoma?
Polycyclic hydrocarbons in the smoked fish of their diets, and nitrites in preserved foods
161
Causes of DIC (pneumonic)
STOP Making New Thrombi ``` Sepsis Trauma Obstetric complications Pancreatitis Malignancy (adenocarcinoma, APL) Nephrotic syndrome Transfusion reaction ```
162
Source of new skin for healing of damaged epidermis
Epidermal stem cells in hair follicles and sweat glands of the dermis
163
At which day will each of these occur?... - Conjoined twins - Dichorionic Diamniotic - Monochorionic Diamniotic - Monochorionic Monoamniotic
After day 12 Days 1-3 (morula) Days 4-8 (blastocyst) Days 8-13 (implanted blastocyst)
164
What is contained in the medial umbilical fold? What artery does this arise from?
Umbilical artery Internal iliac artery
165
What is injured in a stab wound in the... - R 2nd intercostal space (sternal border) - R 3rd intercostal space (sternal border) - L 4th or 5th intercostal spaces (sternal border) - L 3rd, 4th, or 5th intercostal spaces at midclavicular line - Behind the manubrium
``` Ascending aorta SA node (R atrium) R ventricle (moderator band) L ventricle (mitral valve chordae tendonae) L brachiocephalic vein ```
166
Which salivary gland is each one describing?... - Mostly mucus cells - Mix of mucus and serous cells - Mostly serous cells
Sublingual Submandibular Parotid
167
Freckles all over the body Intestinal hamartomas Risk for what?
Peutz-Jeghers GI carcinoma of some kind
168
``` Colonic polyposis Bone osteomas Desmoid tumors Soft-tissue tumors Retinal hyperplasia ```
Gardner syndrome
169
Colonic polyposis | Glioblastoma
Turcot syndrome
170
Explain the connection with alcoholism, magnesium, and calcium
Alcoholism --> chronic magnesium deficiency --> decreased PTH secretion --> functional hypoparathyroidism --> hypocalcemia
171
Uveitis Recurrent genital ulcers Recurrent oral ulcers
Behcet's disease
172
Vasculitis that spares the lungs Pathology?
Polyarteritis nodosa Fibrinoid necrosis
173
Typical location of venous stasis ulcers
Above the medial malleolus
174
Light brown macules on the skin Pigmented nodules in his irises At risk for developing what?
NF-1 (cafe-au-lait spots, Lisch nodules) Neurofibromas (peripheral nerve tumors) Meningiomas Pheochromocytomas
175
Where are ALT and AST found?
ALT - LIVER ONLY AST - liver, heart, kidney, RBCs
176
Isolated increase in AST + unremitting epigastric pain
Ischemic heart disease (atypical presentation)
177
What characteristic of H. pylori allows it to flourish and destruct the stomach lining?
Urease-positive -- uses AMMONIUM production to mitigate the acid and also destroy the stomach lining cells
178
Small intestinal obstruction...exam sign? | Infectious cause?
Tinkly bowel sounds | Ascaris lumbricoides
179
``` Red discoloration of upper/mid face Seizures/epilepsy Intellectual disability Hemiparesis Early-onset glaucoma ``` Cause?
Sturge-Weber syndrome (encephalotrigeminal angiomatosis) GNAQ activating mutation --> port-wine stain (V1,V2), leptomeningeal angioma, episcleral hemangioma
180
Reye syndrome...problem in the liver? What else will be seen in the liver?
Inhibition of mitochondrial enzymes by aspirin metabolites Microvesicular steatosis (fatty change)
181
Heart failure Endocardial fibrosis Myocardial necrosis Eosinophilia Cause?
Loeffler endocarditis (syndrome) Idiopathic eosinophilia --> cardiac damage by eosinophilic enzymes
182
Most common cause of cardiac-related sudden death
Ischemic heart disease (--> fatal arrhythmia)
183
Cancers with psammoma bodies How to remember?
Papillary thyroid carcinoma Serous papillary cystadenocarcinoma Meningioma Mesothelioma "PSaMMoma"
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