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Questions (Random) - Kaplan Flashcards

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
Q

What is a Pearson correlation?

A

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

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26
Q

What is a t-test used for?

Example?

A

Comparing the means of 2 groups of data

Ex. Average BP of men vs. women

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27
Q

What is an ANOVA used for?

Example?

A

Comparing the means of 3+ groups of data

Ex. Average BP of 3+ different age groups

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28
Q

What is a Chi-square used for?

Example?

A

Comparing percentages or proportions of 2+ groups of data

Ex. Percentage of each ethnic group w/ HTN

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29
Q

What can be seen in a baby after gestational uncontrolled diabetes? (w/ causes for each) (3)

A
  • Macrosomia (insulin = anabolic)
  • RDS (insulin inhibits surfactant)
  • Transposition of great vessels
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30
Q

Causes of CONGENITAL cyanosis

A

5 T’s

  • Truncus arteriosis
  • Tricuspid atresia/stenosis
  • Tetralogy of Fallot
  • Transposition of great vessels
  • Total anomalous venous return
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31
Q

How to fully diagnose HIV positivity?

If the result is questionable?

Common first positive finding upon infection?

A

Positive HIV ELISA + Positive Western Blot for 2+ antigens (gp120, gp41, p24)

Confirm or deny w/ RT-PCR

P24 antigen and anti-p24 antibodies

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32
Q 
Teenage girl
Inguinal hernia
Amenorrhea
Immature female external genitalia
No uterus

Explain.

A

Androgen insensitivity syndrome

  • Genotypic male (w/ testes)
  • Female external genitalia forms as DEFAULT
  • No internal genitalia (except 1º) form b/c no androgens
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33
Q

Infant w/ hyponatremia and hyperkalemia
OR
Child w/ precocious puberty and virilization

Explain.
Elevated labs?

A

21-hydroxylase deficiency

Aldosterone and Cortisol inhibited, EXCESS ANDROGENS

17-hydroxyprogesterone, renin

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34
Q

Ambiguous genitalia, undescended testes, no 2º sex characteristics, hypertension, hypokalemia

Explain.

A

17-hydroxylase deficiency

No androgens

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35
Q

Virilization, hypertension, low renin, low cortisol

Explain.

A

11-beta-hydroxylase deficiency

No cortisol, excess 11-deoxycorticosterone (MC), excess androgens

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36
Q

Incomplete genital plate canalization

A

Imperforate hymen

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37
Q

Painful, enlarged lymph node
Variable fevers, chills
No other abnormal signs or labs
Pathology of LN = necrosis w/ granuloma

A

Cat-Scratch Disease (Bartonella henselae)

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38
Q

When are soap-based products particularly preferred over the alcohol-based gels for hand-washing?

A

Spore-forming bacteria

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39
Q

X-linked recessive disorders

A

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
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40
Q

How to calculate total peripheral resistance using MAP, CO, and RAP

How to remember this?

A 
CO = (MAP-RAP)/TPR
TPR = (MAP-RAP)/CO

P = QR (alphabetical)

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41
Q

Leukocyte adhesion deficiency…

  • What is it?
  • Mutation?
  • Symptoms?
A

Impaired neutrophil extravasation into tissues
Defect in LFA1 (beta-2 integrins, CD11/18)
Recurrent bacterial and fungal infections
Delayed wound healing

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42
Q

Metoprolol…common side effect? (not related to sympathetics)

A

Dyslipidemias

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43
Q

The bulbis cordis becomes what?

The sinus venosus becomes what (R and L)?

A

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
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44
Q

Infections that can be passed via DIRECT CONTACT?

A
  • C. diff., E. coli O157:H7
  • RSV, HSV, enterovirus, parainfluenza
  • Impetigo
  • MRSA, VRE
  • Scabies
  • Staph and group A strep (skin)
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45
Q

Good drug class for allergies? Members?

What side effects are possible? (3) Which ones for each?

A

Anti-histamines – diphenhydramine, promethazine, chlorpheniramine, meclizine, cetirizine, loratadine, fexofenadine

Antimuscarinic (the first 4)
Sedation (the first 4 especially)
Anti-motion sickness (meclizine, diphenhydramine)

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46
Q

Decongestants w/ alpha-1 agonist activity

Should NOT be used in who?

A

Phenylephrine
Ephedrine
Pseudephedrine

BPH or HTN

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47
Q

Fever
Vesicular rash w/ macules, papules, pustules, and scabs all present together. Started on trunk. Unvaccinated or hasn’t had boosters in years

A

Chickenpox – VZV

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48
Q

Erythematous sandpaper-like rash w/ fever and sore throat

A

Scarlet fever (strep pyogenes)

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49
Q

Pink coalescing macules on head that move downward as desquamating rash w/ LAD

If in a fetus?

A

Rubella

Rash, LAD, polyarthritis (of mom)
Cataracts, deafness, patent PDA (in baby)

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50
Q

Cough, stuffy nose, conjunctivitis, spots on buccal mucosa

Later, rash on head that spreads down.

A

Measles (koplik spots)

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51
Q

Several days of high fever, followed by rose-colored macules on body

A

Roseola (HHV6)

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52
Q

Oval-shaped vesicles on palms and soles, vesicles and ulcers in oral mucosa

A

Hand-Foot-Mouth (Coxsackie A)

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53
Q

Chorioretinitis, hydrocephalus, intracranial calcifications

A

Toxoplasma gondii

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54
Q

Hallucinations upon waking or upon falling asleep
Paralysis during hallucinations

Explain.

A

Narcolepsy

Intrusion of REM sleep into the waking period, causing hallucinations (like dreams) and paralysis (b/c paralyzed during REM sleep)

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55
Q

How does PCO2 level relate to cerebral blood flow?

A

High PCO2 = increased blood flow, decreased resistance

Low PCO2 = decreased blood flow, increased resistance

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56
Q

Mental status changes
Tachycardia
Hypoxemia (low O2 sat)

What else might be in the stem?

A

Pulmonary embolism

Recent trauma or long stasis/immobility

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57
Q

Muscle wasting, cataracts, heart block

Mutation?

A

Myotonic dystrophy

CTG repeats in DMPK protein

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58
Q

A man with advanced AIDS has which type of anti-HIV immunoglobulins? Why?

A

IgM…

(1) Too few T-cells left to promote advanced Ig production
(2) Constant-changing envelope antigens (gp) = new Abs

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59
Q

What are microvilli? Where? Composed mainly of what?

Genetic mutation in infant? Presents like what?

A

Small projections in GI tract to increase surface area

Composed of actin/myosin microfilaments

MYO5B mutation (myosin Vb) = MICROVILLUS ATROPHY = secretory diarrhea in newborn

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60
Q 
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?

A

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

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61
Q

Mental retardation
High urine orotic acid
Hypochromic, megaloblastic anemia refractory to folate/B12

A

UMP synthase deficiency (pyrimidine synthesis)

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62
Q 
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
A

Carbamoyl phosphate synthetase deficiency (urea cycle)

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63
Q

Causes of renal papillary necrosis

A

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
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64
Q

Sounds like anthrax eschar

Gram negative rods

A

Pseudomonas – ecthyma gangrenosum

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65
Q

Increased pyruvate, lactate, alanine, and ketoacids

A 
Pyruvate carboxylase (formation of oxaloacetate) deficiency
   - Can't start the Krebs cycle
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66
Q

Sickle cell disease
Renal papillary necrosis

What arteries are most likely affected? Why?

A

Sickle cell nephropathy

VASA RECTA – high osmolarity, low O2 in the renal medulla causes sickling –> necrosis of papillae

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67
Q

What is released by muscles during exercise that leads to vasodilation (BEFORE N.O. is produced)?

A

Adenosine, K+, lactic acid

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68
Q

Fever, confusion, thrombocytopenia, renal failure, petechiae

A

TTP - pentad - ADAMTS 13 protease deficiency

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69
Q

CGD - what is it?

Susceptible to what? Main ones? (5)

A

NADPH oxidase deficiency

Susceptible to CATALASE-POSITIVE organisms…

  • Staph aureus
  • Aspergillus
  • Salmonella
  • Nocardia
  • Candida
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70
Q

Major bacteria w/ protective capsules

A

Some Killers Have Pretty Nice Capsules

  • Strep pneumoniae
  • Klebsiella
  • Haemophilus influenza
  • Pseudomonas
  • Neisseria meningitidis
  • Cryptococcus
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71
Q

What is a…

- Prophage
- Bacteriophage
A

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

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72
Q

2 examples of drug-resistance that come from bacteriophage

A

Staph aureus – Vancomycin resistance

Pseudomonas – Imipenem resistance

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73
Q

What is a transposon?

Most common cause for developing what?

A

Mobile segments of DNA that can “jump” into different DNA strands through the use of a transposase enzyme

Multi-drug resistance

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74
Q

Examples of bacterial toxins that come from lysogenic conversion (via a phage)?

A
  • Cholera toxin
  • Strep pyogenes pyrogenic exotoxin (Scarlet fever)
  • Shigella dysentery toxin
  • Diphtheria toxin
75
Q

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)

A

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
Q

Why can influenza viruses create new strains of itself (ex. H1N1)?

A

Segmented genome –> can go through “recombination” of its genome when co-infected w/ another influenza strain

77
Q

HSV encephalitis…finding on MRI?

CSF findings?

A

TEMPORAL LOBE localization

Elevated lymphocytes and protein, normal glucose

78
Q

Encephalitis, summer months, viral CSF findings…suspect what?

A

Arthropod (mosquito) born viruses

- SLEV, WNEV, EEV, WEV

79
Q

Encephalitis vs. meningitis

A

Meningitis – normal cognitive function

Encephalitis – cognitive, motor, and sensory deficits; seizures; AMS

80
Q

Child has a rash on cheeks that progress to net-like pattern on body

A

Fifth disease - Parvo B19

81
Q

Fever, headache, malaise, rash on palms and soles. Spent time outside recently.

Vector?

Also can carry what?

A

RMSF

Wood tick (Dermacentor)

Francisella tularensis

82
Q

Unreactive nitroblue tetrazolium test

Means what?

Organisms?

A

CGD - deficiency of NADPH oxidase

Subject to catalase-positive organisms (pyogenic organisms)

Staph aureus, Serratia, E. coli, Aspergillus, Candida

83
Q

Defective tyrosine kinase

A

Bruton X-linked hypogammaglobulinemia

Lack of B cell maturation, very few antibodies

Subject to extracellular organisms

84
Q

Defective IL-2 receptor

A

Severe combined immunodeficiency – NO immune response possible

85
Q

Thrombocytopenia, immunodeficiency, eczema

Defect type?

A

Wiskott-Aldrich (WAS protein)

Cytoskeletal defect

86
Q

Drug causes of SIADH

How to remember?

A

Carbamazepine, Cyclophosphamide, SSRIs

“Can’t Concentrate Serum Sodium”

87
Q

Drug causes of Fanconi syndrome

A

Tenofovir, Ifosfamide

88
Q

Drug causes of hemorrhagic cystitis

A

Cyclophosphamide, Ifosfamide

89
Q

Drug causes of diabetes insipidus

A

Lithium, Demeclocycline

90
Q

Drug causes of hyperglycemia

How to remember?

A

Tacrolimus, Protease inhibitors, Niacin, HCTZ, Corticosteroids

Taking Pills Necessitates Having glucose Checked

91
Q

Drugs causing hypothyroidism

A

Lithium, Amiodarone, Sulfonamides

92
Q

Drugs causing hot flashes

A

Tamoxifen, Clomiphene

93
Q

Muscarinic AChRs…receptor type?

A

GPCR

94
Q

Drugs that inhibit P450

How to remember?

A

Acute Alcohol Abuse, Ritonavir, Amiodarone, Cimetidine/Ciprofloxacin, Ketoconazole, Sulfonamides, INH, Grapefruit, Quinidine, Macrolides

AAA RACKS IN GQ Magazine

95
Q

Drugs that induce P450

How to remember?

A

Chronic alcohol, St. Johns wart, Phenytoin, Phenobarbitol, Nevirapine, Rifampin, Griseofulvin, Carbamazepine

Chronic Alcoholics Steal Phen-Phen And Never Refuse Greasy Carbs

96
Q

Drugs that cause seizures

How to remember?

A

Isoniazid, Bupropion, Imipenem, Tramadol, Enfluorane

With seizures, I BITE my tongue

97
Q

Drugs that cause Parkinson rigidity

How to remember?

A

Antipsychotics, Reserpine, Metoclopramide

Cogwheel rigidity of the ARM

98
Q

Drugs that cause interstitial nephritis

A

Furosemide, NSAIDs, Methicillin

99
Q

Drugs causing coronary vasospasm

A

Cocaine, Sumatriptan, Ergot alkaloids

100
Q

Drugs causing flushing

How to remember?

A

Vancomycin, Adenosine, Niacin, CCBs, Echinocandins

VANCE

101
Q

Drugs that cause dilated cardiomyopathy

A

Anthracyclines (Doxorubicin, daunorubicin)

102
Q

Drugs that cause Torsade de Pointes

How to remember?

A 
AntiArrhythmics (1a, 3)
AntiBiotics (Macrolides)
AntiCychotics (Haloperidol)
AntiDepressants (TCAs)
AntiEmetics (Ondansetron)

ABCDE

103
Q

Pufferfish toxin…name?

Symptoms?

A

Tetrodotoxin

Binds fast VG sodium channels in nerve/heart
–> N/D, paresthesias, weakness, dizziness, loss of DTRs

104
Q

Symptoms of cholinergic poisoning, just went out for seafood. What did he eat?

Cause?

A

Ciguatoxin – barracuda, snapper, moray eel

Opens Na channels, causing depolarization

105
Q

Patient thinks he’s allergic to fish. Anaphylactic-like reaction upon eating dark fish (tuna, mahi, mackerel, bonito)

A

Scombroid poisoning (histamine) – converted from histidine by bacterial enzyme –> anaphylaxis-like reaction

106
Q

Direct Coomb’s positive hemolytic anemia…drug causes?

A

Methyldopa, Penicillin

107
Q

How to remember selective vs. nonselective beta blockers?

A

Selective (beta-1) = A-M

Nonselective (1 and 2) = N-Z

108
Q

Heart, kidney, skin, brain masses…disease?

A

Tuberous sclerosis

109
Q

Side effects of lithium

A

Tremor
Hypothyroidism
Nephrogenic DI
Ebstein anomaly

110
Q 
Red spots on face and palate
History of nose bleeds
History of seizures
History of melena
Polycythemia
Presents with severe headache

Disease? Current headache?

A

Hereditary hemorrhagic telangiectasias (HHT)

Subarachnoid hemorrhage due to ruptured AVM

111
Q

Risk factors for neural tube defects

A 
Folate deficiency
Maternal diabetes
Antiepilepsy drugs (Valproate, Carbamazepine)
112
Q

Myeloschisis vs. Myelomeningocele – labs

A

Schisis = increased AFP and AChE

MM, meningocele = increased AFP only

113
Q

Tuberous sclerosis…lesions?

A 
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
Q

Von Hippel Lindau…lesions?

A

Retinal hemangioblastomas
Renal cell carcinoma
Pheochromocytoma
Polycythemia

115
Q

What is the VHL gene?

A

Tumor suppressor gene for HIF, which causes cell survival and vascular proliferation

116
Q

NF1…lesions?

A

CAFE SPOT - Cafe au lait spots, axillary freckling, eye lesions (Lisch nodules), scoliosis, pheo, optic tumors (glioma)

117
Q

NF2…lesions?

A

Acoustic neuromas (b/l), meningioma, juvenile cataracts

118
Q

Sturge-Weber disease

A 
Port wine stain
Vascular lesion in V1/V2 dermatome
Leptomeningeal vascular malformation
Cortical calcifications
Glaucoma
Seizures
119
Q

Girl recently started her period, now has high fever, nausea, diarrhea, and a diffuse erythematous rash all over her body

A

Toxic shock syndrome (from tampon) – Staph. aureus

120
Q

Shellfish, chronic liver disease, watery diarrhea, fluid-filled vesicles on legs, hypotension, death

A

Vibrio vulnificus

121
Q

Functions of anaphylatoxins

A
  • Degranulation
  • SM contraction
  • Chemotaxis
122
Q

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?

A

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
Q

Why are extremities cool in certain types of shock?

A

Decreased C.O. (hypovolemic, cardiogenic) –> reflex vasoconstriction –> less blood flow –> cool skin

124
Q

Increased C3a, C5a, histamine…cause?

A

Type 1 hypersensitivity (ex. anaphylaxis)

125
Q

What is the APACHE II score?

A

Score used to predict hospital mortality based on the worst variables during the initial 24 hours in the ICU

126
Q

Boy w/ long flat face, flat feet, large ears, heart murmur, flapping hands and chewing on them

What is it?

A

Fragile X Syndrome

CGG repeat

127
Q

Which trinucleotide repeat diseases have which repeat?

What genes go with each?

A

X-Girlfriend’s First Aid Helped Ace My Test

Fragile X = cGg (FMR1)
Friedreich ataxia = gAa (FXN)
Huntington = cAg (Huntingtin)
Myotonic dystrophy = cTg

128
Q 
Chromosome 16
Chromosome 5q
Chromosome 4
Chromosome 17q
Chromosome 15
Chromosome 22q
Chromosome 3p

What are all of these?

A 
16 = ADPKD (1)
5q = FAP
4 = Huntington (Huntingin)
17q = NF-1
15 = Marfan (fibrillin)
22q = NF-2
3p = VHL

AUTOSOMAL DOMINANT

129
Q

Chromosome 7

Chromosome 13

A

CF

Rb

130
Q

Autosomal recessive diseases

A 
Albinism
ARPKD
CF
Glycogen storage diseases
Hemochromatosis
Kartagener syndrome
Mucopolysaccharidoses (except Hunter)
PKU
Sickle cell
Sphingolipidoses (except Fabry)
Thalassemias
Wilson's
131
Q

Down syndrome…increased risk for what cancers?

Most cases of DS due to what genetics?

A

ALL, AML

Meiotic nondisjunction (in older age women)

132
Q

Mental disability, rocker-bottom feet, small jaw, low-set ears, clenched hands w/ overlapping fingers, prominent occiput, heart disease

Findings on screening?

A

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
Q

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?

A

Trisomy 13 (Patau syndrome)

Low free beta-HCG, low PAPP-A

134
Q

High nuchal translucency, hypoplastic nasal bone

A

Down syndrome

135
Q

1st trimester = low PAPP-A, high beta-HCG

A

Down syndrome

136
Q

Quad screen = low AFP, high beta-HCG, low estriol, high inhibin A

A

Down syndrome

137
Q

Microcephaly, mental disability, high-pitched cry, epicanthal folds, ventricular septal defect

Genetics?

A

Crit-du-chat

Microdeletion on 5p

138
Q

Chromosome 3

A

VHL, RCC

139
Q

Chromosome 4

A

ADPKD (2), achondroplasia, Huntington

140
Q

Chromosome 5

A

Cri-du-chat, FAP

141
Q

Chromosome 6

A

Hemochromatosis (HFE)

142
Q

Chromosome 7

A

WIlliams syndrome, CF

143
Q

Chromosome 9

A

Friedreich ataxia

144
Q

Chromosome 11

A

Wilms tumor, sickle cell, beta-thalassemia

145
Q

Chromosome 13

A

Patau, Wilson disease, Retinoblastoma, BRCA2

146
Q

Chromosome 15

A

Prader-Willi, Angelman, Marfan

147
Q

Chromosome 16

A

ADPKD (1), alpha-thalassemia

148
Q

Chromosome 17

A

NF-1, BRCA-1

149
Q

Chromosome 18

A

Edwards

150
Q

Chromosome 21

A

Down syndrome

151
Q

Chromosome 22

A

NF-2, DiGeorge (22q11)

152
Q

X chromosome

A

Fragile X, X-linked agammaglobulinemia, Klinefelter (XXY)

153
Q

Prominent forehead, widely spaced eyes, upturned nose, underdeveloped mandible, dental hypoplasia, and patulous lips

A

Elfin facies (Williams syndrome – chromosome 7)

154
Q

Prominent forehead, upturned nose, small mandible, hypercalcemia, very friendly with strangers, cardiovascular problems

A

Williams syndrome - chromosome 7

155
Q

Stapedius muscle innervation

Relevance?

A

Facial nerve (CN 7)

Facial nerve lesion –> hyperacusis

156
Q

Spinal muscular atrophy type 1…other name?

What is it?

Causes what?

A

Werdnig-Hoffman syndrome

Failure to turn OFF perinatal apoptosis mechanism

Denervation (LMN) to muscles –> hypotonia, poor suckling, respiratory failure, etc.

157
Q

Tacrolimus

A

Macrolide immunosuppressant from Streptomyces tsukubaensis…inhibits calcineurin-mediated transcription of IL-2

158
Q

Daclizumab, Basiliximab

A

Antibodies…IL-2 receptor inhibitors

159
Q

Involuntary muscle twitching
Non-rhythmic conjugate eye movements
An abdominal mass that crosses the midline

What will be seen on labs?

A

Neuroblastoma – opsoclonus-myoclonus syndrome

Elevated homovanillic acid
Amplified N-myc

160
Q

Why do Japanese people commonly have gastric adenocarcinoma?

A

Polycyclic hydrocarbons in the smoked fish of their diets, and nitrites in preserved foods

161
Q

Causes of DIC (pneumonic)

A

STOP Making New Thrombi

Sepsis
Trauma
Obstetric complications
Pancreatitis
Malignancy (adenocarcinoma, APL)
Nephrotic syndrome
Transfusion reaction
162
Q

Source of new skin for healing of damaged epidermis

A

Epidermal stem cells in hair follicles and sweat glands of the dermis

163
Q

At which day will each of these occur?…

  • Conjoined twins
  • Dichorionic Diamniotic
  • Monochorionic Diamniotic
  • Monochorionic Monoamniotic
A

After day 12
Days 1-3 (morula)
Days 4-8 (blastocyst)
Days 8-13 (implanted blastocyst)

164
Q

What is contained in the medial umbilical fold?

What artery does this arise from?

A

Umbilical artery

Internal iliac artery

165
Q

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
A 
Ascending aorta
SA node (R atrium)
R ventricle (moderator band)
L ventricle (mitral valve chordae tendonae)
L brachiocephalic vein
166
Q

Which salivary gland is each one describing?…

  • Mostly mucus cells
  • Mix of mucus and serous cells
  • Mostly serous cells
A

Sublingual

Submandibular

Parotid

167
Q

Freckles all over the body
Intestinal hamartomas

Risk for what?

A

Peutz-Jeghers

GI carcinoma of some kind

168
Q 
Colonic polyposis
Bone osteomas
Desmoid tumors
Soft-tissue tumors
Retinal hyperplasia
A

Gardner syndrome

169
Q

Colonic polyposis

Glioblastoma

A

Turcot syndrome

170
Q

Explain the connection with alcoholism, magnesium, and calcium

A

Alcoholism –> chronic magnesium deficiency –> decreased PTH secretion –> functional hypoparathyroidism –> hypocalcemia

171
Q

Uveitis
Recurrent genital ulcers
Recurrent oral ulcers

A

Behcet’s disease

172
Q

Vasculitis that spares the lungs

Pathology?

A

Polyarteritis nodosa

Fibrinoid necrosis

173
Q

Typical location of venous stasis ulcers

A

Above the medial malleolus

174
Q

Light brown macules on the skin
Pigmented nodules in his irises

At risk for developing what?

A

NF-1 (cafe-au-lait spots, Lisch nodules)

Neurofibromas (peripheral nerve tumors)
Meningiomas
Pheochromocytomas

175
Q

Where are ALT and AST found?

A

ALT - LIVER ONLY

AST - liver, heart, kidney, RBCs

176
Q

Isolated increase in AST + unremitting epigastric pain

A

Ischemic heart disease (atypical presentation)

177
Q

What characteristic of H. pylori allows it to flourish and destruct the stomach lining?

A

Urease-positive – uses AMMONIUM production to mitigate the acid and also destroy the stomach lining cells

178
Q

Small intestinal obstruction…exam sign?

Infectious cause?

A

Tinkly bowel sounds

Ascaris lumbricoides

179
Q 
Red discoloration of upper/mid face
Seizures/epilepsy
Intellectual disability
Hemiparesis
Early-onset glaucoma

Cause?

A

Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

GNAQ activating mutation –> port-wine stain (V1,V2), leptomeningeal angioma, episcleral hemangioma

180
Q

Reye syndrome…problem in the liver?

What else will be seen in the liver?

A

Inhibition of mitochondrial enzymes by aspirin metabolites

Microvesicular steatosis (fatty change)

181
Q

Heart failure
Endocardial fibrosis
Myocardial necrosis
Eosinophilia

Cause?

A

Loeffler endocarditis (syndrome)

Idiopathic eosinophilia –> cardiac damage by eosinophilic enzymes

182
Q

Most common cause of cardiac-related sudden death

A

Ischemic heart disease (–> fatal arrhythmia)

183
Q

Cancers with psammoma bodies

How to remember?

A

Papillary thyroid carcinoma
Serous papillary cystadenocarcinoma
Meningioma
Mesothelioma

“PSaMMoma”

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