High Yield Misc. Step Facts Flashcards by ashley lovorn

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

Lynch Syndrome

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

Osteogenesis Imperfecta

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

Marfan’s Syndrome

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

Vit. A deficiency

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What disease is an Aldolase-B deficiency?

Fructosemia

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Name the Disease/Syndrome:
- PiG A gene mutation

Paroxysysmal Nocturnal Hemoglobinuria

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Name the Disease/Syndrome:
- C1 esteraste inhibitor deficiency

Hereditary angioedema

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Name the Disease/Syndrome:
- LYST gene mutation

Chediak-Higashia Syndrome

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

Tetanus

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

Botulism

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

Staph Epidermidis

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

C. Diff

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

Hypertrophic Cardiomyopathy (HOCM)

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

Fatal arrhythmia

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

Myxedema

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What is the mechanism behind duodenal atresia?

failure of recanalization

common in Down Syndrome

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

Crohn’s Disease

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Name the Disease/Syndrome:
- Chromosome 13
- Ceruloplasmin

Wilson’s Disease

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

Hemochromatosis
(bronze diabetes)

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Name the Disease/Syndrome:
- Arg506Gln Mutation

Factor V (Ledien)

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Name the Disease/Syndrome:
- Carbonic Anhydrase 2 Mutation

OsteoPETROSIS

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

Myasthenia Gravis

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

Pemphigus Vulgaris

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

Epidural Hematoma

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

Lateral Pontine Syndrome

Name the Disease/Syndrome: - Basilar Artery Stroke

Locked In Syndrome

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

Diffuse Axonal Injury

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

Migraine

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

Vascular Dementia "step wise decline"

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

Multiple Sclerosis

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

Spinal Muscular Atrophy

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

ALS

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

Myopia

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

Astigmatism

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

Glaucoma

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

Glaucoma

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

Artery occlusion

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

Vein Occlusion

Name the Disease/Syndrome: - flashers and floaters

Retinal Detachment

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

Papilledema

Name the Disease/Syndrome: - FLAME HEMMORHAGES

HYPERTENSION!!

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

Retinoblastoma

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

Zollinger-Ellison Syndrome

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

Dubin-Johnson Syndrome

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

21-hydroxylase deficiency

Name the Disease/Syndrome: - No Discrete P waves

A. Fib

Where is the most common site for atherosclerosis?

Abdominal Aorta

Name the Disease/Syndrome: - Schiller Duval Bodies

Yolk Sac Tumor

Most Common Testicular Tumor

Seminoma

Most Common Breast Cancer

Invasive Ductal Carcinoma

Most Common Malignant Ovarian Tumor

Serous Carcinoma

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

Kidney issues

Actinic Keratosis is a precursor for....

squamous cell carcinoma

What is the most common cause of hereditary harmless jaundice?

Gilbert's Disease

Diverticular in the Pharynx

Zenker's Diverticulum

Right Heart Failure due to a pulmonary Cause is...

Cor Pulmonale

Most common site for Diverticulosis

Sigmoid Colon

What is the most common lysosomal storage disease?

Gaucher's Disease

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

HSV-1

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

Dysgerminoma

Name the Disease/Syndrome: - has 'raisinoid' nuclei

HPV

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

Chronic Pyelonephritis

Name the Disease/Syndrome: - honeycomb lungs

Idiopathic Pulmonary Fibrosis

Name the Disease/Syndrome: - WBC smudge Cells

CLL - chronic lymphoblastic lymphoma

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

Parkinson's Disease

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

Xanthochromia *most common cause of this is - Subarachnoid Hemorrhage

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

Neuroblastoma

What is the most common cause of Aortic Dissection

HTN

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

Crohn's Disease

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

Papillary Thyroid Cancer

What is the most common cause of vertebral compression fracture?

Osteoporosis

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

Glanzmann's Thrombasthenia

Name the Disease/Syndrome: - GP1b deficiency

Bernard-Sollier

Most common cause of bacterial meningitis in a 7 month old

Strep Pneumo

Name the Disease/Syndrome: - anti-hemidesmosome antibodies

Bullous Pemphigus

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

*negri bodies* Rabies!

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

Chagas Disease

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

Down Syndrome

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

Down Syndrome

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

Sarcoidosis

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

Paget's disease of the breast

Name the Disease/Syndrome: - pruritic, polygonal plaques

Lichen Planus *all the 'P' symptoms*

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

Carcinoid Syndrome

Name the Disease/Syndrome: - head bobbing

Aortic Regurg.

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

IgA deficiency