High Yield Misc. Step Facts Flashcards
Name the Disease/Syndrome:
- Failure of mismatch repair in the S phase
Lynch Syndrome
Name the Disease/Syndrome:
- Type 1 collagen defect
- Can’t form triple helixes
Osteogenesis Imperfecta
Name the Disease/Syndrome:
- FBN1 mutation on Chromosome 15
Marfan’s Syndrome
What vitamin deficiency causes decreased differentiation of epithelial cells into specialized tissue?
Vit. A deficiency
What disease is an Aldolase-B deficiency?
Fructosemia
Name the Disease/Syndrome:
- PiG A gene mutation
Paroxysysmal Nocturnal Hemoglobinuria
Name the Disease/Syndrome:
- C1 esteraste inhibitor deficiency
Hereditary angioedema
Name the Disease/Syndrome:
- LYST gene mutation
Chediak-Higashia Syndrome
Name the Disease/Syndrome:
- GABA and Glycine issues from Renshaw Cells
- Pt can’t open their mouth
Tetanus
Name the Disease/Syndrome:
- issue with Ach release at the Neuromuscular Junction (SNARE proteins)
Botulism
Name the Disease/Syndrome:
- Biofilm production
(usually on prosthetic heart valves)
Staph Epidermidis
Name the Disease/Syndrome:
- Toxin A and Toxin B issue
- Causes diarrhea
C. Diff
Name the Disease/Syndrome:
- Asymmetric Septal Hypertrophy with an abnormal motion of the mitral valve
Hypertrophic Cardiomyopathy (HOCM)
What is the most common cause of death after an MI?
Fatal arrhythmia
Name the Condition:
- increased CAG/GAGs in the interstitial space
Myxedema
What is the mechanism behind duodenal atresia?
- failure of recanalization
common in Down Syndrome
Name the Disease/Syndrome:
- has colon/intestinal fistulas
Crohn’s Disease
Name the Disease/Syndrome:
- Chromosome 13
- Ceruloplasmin
Wilson’s Disease
Name the Disease/Syndrome:
- Chromosome 6
- Hypogonadism
- Type 2 DM
Hemochromatosis
(bronze diabetes)
Name the Disease/Syndrome:
- Arg506Gln Mutation
Factor V (Ledien)
Name the Disease/Syndrome:
- Carbonic Anhydrase 2 Mutation
OsteoPETROSIS
Name the Disease/Syndrome:
- involves post synaptic acetylcholinergic antibodies
Myasthenia Gravis
Name the Disease/Syndrome:
- Nikolsky +
- IgG autoantibodies against desmoglein 1 and 3
Pemphigus Vulgaris
Name the Disease/Syndrome:
- Rupture of the Middle Meningeal Artery
Epidural Hematoma
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