High Yield Misc. Step Facts Flashcards

1
Q

Name the Disease/Syndrome:
- Failure of mismatch repair in the S phase

A

Lynch Syndrome

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2
Q

Name the Disease/Syndrome:
- Type 1 collagen defect
- Can’t form triple helixes

A

Osteogenesis Imperfecta

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3
Q

Name the Disease/Syndrome:
- FBN1 mutation on Chromosome 15

A

Marfan’s Syndrome

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4
Q

What vitamin deficiency causes decreased differentiation of epithelial cells into specialized tissue?

A

Vit. A deficiency

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5
Q

What disease is an Aldolase-B deficiency?

A

Fructosemia

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6
Q

Name the Disease/Syndrome:
- PiG A gene mutation

A

Paroxysysmal Nocturnal Hemoglobinuria

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7
Q

Name the Disease/Syndrome:
- C1 esteraste inhibitor deficiency

A

Hereditary angioedema

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8
Q

Name the Disease/Syndrome:
- LYST gene mutation

A

Chediak-Higashia Syndrome

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9
Q

Name the Disease/Syndrome:
- GABA and Glycine issues from Renshaw Cells
- Pt can’t open their mouth

A

Tetanus

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10
Q

Name the Disease/Syndrome:
- issue with Ach release at the Neuromuscular Junction (SNARE proteins)

A

Botulism

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11
Q

Name the Disease/Syndrome:
- Biofilm production
(usually on prosthetic heart valves)

A

Staph Epidermidis

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12
Q

Name the Disease/Syndrome:
- Toxin A and Toxin B issue
- Causes diarrhea

A

C. Diff

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13
Q

Name the Disease/Syndrome:
- Asymmetric Septal Hypertrophy with an abnormal motion of the mitral valve

A

Hypertrophic Cardiomyopathy (HOCM)

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14
Q

What is the most common cause of death after an MI?

A

Fatal arrhythmia

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15
Q

Name the Condition:
- increased CAG/GAGs in the interstitial space

A

Myxedema

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16
Q

What is the mechanism behind duodenal atresia?

A
  • failure of recanalization

common in Down Syndrome

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17
Q

Name the Disease/Syndrome:
- has colon/intestinal fistulas

A

Crohn’s Disease

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18
Q

Name the Disease/Syndrome:
- Chromosome 13
- Ceruloplasmin

A

Wilson’s Disease

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19
Q

Name the Disease/Syndrome:
- Chromosome 6
- Hypogonadism
- Type 2 DM

A

Hemochromatosis
(bronze diabetes)

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20
Q

Name the Disease/Syndrome:
- Arg506Gln Mutation

A

Factor V (Ledien)

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21
Q

Name the Disease/Syndrome:
- Carbonic Anhydrase 2 Mutation

A

OsteoPETROSIS

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22
Q

Name the Disease/Syndrome:
- involves post synaptic acetylcholinergic antibodies

A

Myasthenia Gravis

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23
Q

Name the Disease/Syndrome:
- Nikolsky +
- IgG autoantibodies against desmoglein 1 and 3

A

Pemphigus Vulgaris

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24
Q

Name the Disease/Syndrome:
- Rupture of the Middle Meningeal Artery

A

Epidural Hematoma

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25
Q

Name the Disease/Syndrome:
- Stroke of the Anterior Inferior Cerebral Artery (AICA)

A

Lateral Pontine Syndrome

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26
Q

Name the Disease/Syndrome:
- Basilar Artery Stroke

A

Locked In Syndrome

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27
Q

Name the Disease/Syndrome:
- traumatic shearing of white matter tracts in an MVC accident
- Multiple punctate hemorrhages

A

Diffuse Axonal Injury

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28
Q

Name the Disease/Syndrome:
- irritation of CN V & meninges
- secretion of substance P

A

Migraine

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29
Q

Name the Disease/Syndrome:
- Multiple arterial infarcts in the brain

A

Vascular Dementia
“step wise decline”

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30
Q

Name the Disease/Syndrome:
- autoimmune inflammation and demyelination of the CNS

A

Multiple Sclerosis

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31
Q

Name the Disease/Syndrome:
- Congenital Degeneration of the Anterior horns of the Spinal Cord

A

Spinal Muscular Atrophy

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32
Q

Name the Disease/Syndrome:
- defect in Superoxide dismutase 1

A

ALS

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33
Q

Name the Disease/Syndrome:
- eye refractory power is too long
- light focuses in front of the retina

A

Myopia

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34
Q

Name the Disease/Syndrome:
- Abnormal Curvature of the Cornea
- See halos around light at night

A

Astigmatism

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35
Q

Name the Disease/Syndrome:
- going indoors and it causes severe eye pain

A

Glaucoma

36
Q

Name the Disease/Syndrome:
- Optic disc cupping on fundoscopy

A

Glaucoma

37
Q

Name the Disease/Syndrome:
- sudden vision loss that is PAINLESS

A

Artery occlusion

38
Q

Name the Disease/Syndrome:
- “curtain vision loss”
- can be painful

A

Vein Occlusion

39
Q

Name the Disease/Syndrome:
- flashers and floaters

A

Retinal Detachment

40
Q

Name the Disease/Syndrome:
- elevated optic disc with blurred margins

A

Papilledema

41
Q

Name the Disease/Syndrome:
- FLAME HEMMORHAGES

A

HYPERTENSION!!

42
Q

Name the Disease/Syndrome:
- fundoscopy shows a nodular cream colored retinal mass
- common in children

A

Retinoblastoma

43
Q

Name the Disease/Syndrome:
- refractory peptic ulcers
- high gastrin level

A

Zollinger-Ellison Syndrome

44
Q

Name the Disease/Syndrome:
- Conjugated Hyperbilirubinemia
- Black Liver

A

Dubin-Johnson Syndrome

45
Q

Name the Disease/Syndrome:
- Congenital Adrenal Hyperplasia
- Hypotension

A

21-hydroxylase deficiency

46
Q

Name the Disease/Syndrome:
- No Discrete P waves

A

A. Fib

47
Q

Where is the most common site for atherosclerosis?

A

Abdominal Aorta

48
Q

Name the Disease/Syndrome:
- Schiller Duval Bodies

A

Yolk Sac Tumor

49
Q

Most Common Testicular Tumor

A

Seminoma

50
Q

Most Common Breast Cancer

A

Invasive Ductal Carcinoma

51
Q

Most Common Malignant Ovarian Tumor

A

Serous Carcinoma

52
Q

What is the most common cause of death in those with SLE?

A

Kidney issues

53
Q

Actinic Keratosis is a precursor for….

A

squamous cell carcinoma

54
Q

What is the most common cause of hereditary harmless jaundice?

A

Gilbert’s Disease

55
Q

Diverticular in the Pharynx

A

Zenker’s Diverticulum

56
Q

Right Heart Failure due to a pulmonary Cause is…

A

Cor Pulmonale

57
Q

Most common site for Diverticulosis

A

Sigmoid Colon

58
Q

What is the most common lysosomal storage disease?

A

Gaucher’s Disease

59
Q

Name the Disease/Syndrome:
- viral encephalopathy in the temporal lobe

A

HSV-1

60
Q

Name the Disease/Syndrome:
- sheets of uniform fried egg cells
- increased hCG
- increased LDH

A

Dysgerminoma

61
Q

Name the Disease/Syndrome:
- has ‘raisinoid’ nuclei

A

HPV

62
Q

Name the Disease/Syndrome:
- thyroid appearance of the kidney

A

Chronic Pyelonephritis

63
Q

Name the Disease/Syndrome:
- honeycomb lungs

A

Idiopathic Pulmonary Fibrosis

64
Q

Name the Disease/Syndrome:
- WBC smudge Cells

A

CLL
- chronic lymphoblastic lymphoma

65
Q

Name the Disease/Syndrome:
- depigmentation of neurons in the substantia nigra

A

Parkinson’s Disease

66
Q

Name the Disease/Syndrome:
- blood/yellow tap on lumbar puncture

A

Xanthochromia
*most common cause of this is - Subarachnoid Hemorrhage

67
Q

Name the Disease/Syndrome:
- tumor of the adrenal medulla in KIDS

A

Neuroblastoma

68
Q

What is the most common cause of Aortic Dissection

A

HTN

69
Q

Name the Disease/Syndrome:
- alternating areas of transmural inflammation and normal

A

Crohn’s Disease

70
Q

Name the Disease/Syndrome:
- psammoma bodies
- orphan annie nuclei
- BRAF +

A

Papillary Thyroid Cancer

71
Q

What is the most common cause of vertebral compression fracture?

A

Osteoporosis

72
Q

Name the Disease/Syndrome:
- platelet disorder
- involves GPIIb/IIIa

A

Glanzmann’s Thrombasthenia

73
Q

Name the Disease/Syndrome:
- GP1b deficiency

A

Bernard-Sollier

74
Q

Most common cause of bacterial meningitis in a 7 month old

A

Strep Pneumo

75
Q

Name the Disease/Syndrome:
- anti-hemidesmosome antibodies

A

Bullous Pemphigus

76
Q

Name the Disease/Syndrome:
- eosinophilic inclusion bodies in the hippocampal and cerebellar neurons

A

negri bodies

Rabies!

77
Q

Name the Disease/Syndrome:
- dilated cardiomyopathy w/ apical atrophy
- mega-esophagus

A

Chagas Disease

78
Q

Name the Disease/Syndrome:
- increased b-hCG
- decreases PAPPA
all on 1st trimester screening

A

Down Syndrome

79
Q

Name the Disease/Syndrome:
- decreased AFP
in 2nd trimester screening

A

Down Syndrome

80
Q

Name the Disease/Syndrome:
- bilateral hilar adenopathy
- uveitis

A

Sarcoidosis

81
Q

Name the Disease/Syndrome:
- red/itchy swollen rash of the nipples

A

Paget’s disease of the breast

82
Q

Name the Disease/Syndrome:
- pruritic, polygonal plaques

A

Lichen Planus
all the ‘P’ symptoms

83
Q

Name the Disease/Syndrome:
- cutaneous flushing
- diarrhea
- heart murmur

A

Carcinoid Syndrome

84
Q

Name the Disease/Syndrome:
- head bobbing

A

Aortic Regurg.

85
Q

Name the Disease/Syndrome:
- anaphylaxis following a blood transfusion

A

IgA deficiency