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