Question | Answer |
Celiac disease US prevalence | 1:200 - 1:5000; HLA-DQ2, HLA-DQ8 |
Goodpasture | Usu men 3rd - 4th decade |
Colon cancer risk | doubles each decade after 40 yo; M>F; 90% occur after 50; sig higher risk if 1st-degree relative with colon ca |
Open angle glaucoma | AA; >40 yo; +FH |
Autosomal dominant pattern | 1:1 M:F; multi generations; M-to-M transmission seen; variable expression (important); late-onset neurodegenerative dz’s |
Autosomal dominant neuro disorders | Huntington, NF1/NF2, spinocerebellar ataxias, familial Alz, CMT |
Auto recessive pattern | >1 affected each generation; M:F 1:1; consanguinity; carriers usu asx; inborn errors of metabolism |
Auto recessive disorders | PKU, Tay-Sachs, MSUD, Friedreich’s, Wilson, homocystinuria, sickle cell |
X-linked recessive pattern | F-to-M trans; M=affected, F=carrier |
X-linked rec disorders | Duchenne/Becker MD; Kennedy; adrenoleukodystrophy; Menkes (kinky hair); Lesch-Nyhan; Fragile X; G6PD def |
X-linked dominant pattern | F-to-F transmission (lethal to males); Rett; Aicardi; Lissencephaly 2 |
Rett disease | 6-18 mos; live to 40s; autism; cardiac & scoliosis |
Mitochondrial dz pattern (& examples) | multi generations; trans by F only; 1:1 M:F affected; MERRF, MELAS, LHAN, Kearns-Sayre |
The most common autosomal trisomy: | Trisomy 21 (Down syndrome): 1 in 600 live births |
The second most common autosomal trisomy: | Trisomy 18 (Edward syndrome): 1 in 6000-8000 live births (1:3 M:F) |
MELAS | d/t pt mutation of transfer DNA from leucine; <40 yo; lactic acidosis; HA, stroke, seizure, short; progressive dementia; Dx high serum pyruvate & lactate, stroke lesions; no tx |
TNR dz pattern (& examples) | can be multiple modes of inheritance; Huntington, Fragile X, myotonic dys; Kennedy; spinocerebellar ataxia; Friedreich |
APOE genes re: Alz dz risk | E2: protective vs Alz; E4: inc risk of dev Alz |
Most common genetic form of Parkinson: | PARK8 |
CAD causes ___% of U.S. deaths | 20% |
CHF deaths per year in U.S. | 300,000 |
lifetime risk for developing A-fib in M/F 40 yo & older | 1 in 4 |
number of U.S. people with CAD | 12,000,000 |
people with Acute MI/yr | 1,500,000 |
number of U.S. CAD/MI deaths/yr | 1,000,000 (single largest killer of US men & women) |
___% of U.S. people w/MI per year will die from it | 41% |
Dyslipidemia / HTN / concurrent | Dys 33%, HTN 24%, concurrent dys/HTN = 15% |
HTN prevalence | 1 in 3 in U.S.; 66M >20yo (95% are essential HTN) |
CHF prevalence | 5.1M in U.S.; 650K new dx / yr |
aortic dissection incidence | M:F 2:1; peak at 60-70 yo; 2k-3k / yr; 80% have HTN |
Number US deaths/year from CHF | 265,000 |
lifetime risk devt of A-fib | 1 in 4 |
% of people with LV dysfn who are symptomatic | 50% |
What % of CHF patients have LVH? | 20% |
HTN epi | 1 in 3 in US = HTN; 66 mil in US 20 yo & older; 95% are essential HTN |
Coarctation of the Aorta: incidence | Rare (1:10,000) & usually accompanies other abnormalities such as bicuspid aortic valve or Turner Syndrome |
HTN contributes to what % of M/F AA deaths? | 30% M & 20% F |
Renal artery stenosis prevalence in HTN pts | less than 2% |
HTN pts w/ renal artery stenosis: proportions | 75% unilateral stenosis; 25% bilateral |
HTN prevalence in DM pts | 75% of diabetics have HTN |
Leading cause of death worldwide | arterial HTN |
TAA: prevalence | Less common than AAA w/ diff pathogenesis; 60% = aortic root & ascend A; 40% desc A; 10% arch |
Aortic dissection: incidence | 3/100,00/yr (at least 7,000 cases/yr in the US) |
Intimal tears resulting in dissection: prevalence: | 65% Ascend A; 20% Desc A; 10% A Arch; 5% Abd A. |
Aortic Dissection: Epi | Men > women 2:1 (peak incidence 60-70 y.o.); 2,000-3,000 cases/yr |
AAA Incidence in Men vs Women | 10:1 |
Frequency of heart transplants for CHF | 2500/yr for CHF |
Prognosis for patients with CHF: | 70% women & 80% of men under 65 will die within 8 years |
VTE incidence in US | 1M / year (10% = 400K - 650K develop PE -> 10% of those fatal) |
IBD epidemiology | Caucasians > AA or Asians; M = F; 15-35 y.o. |
Most common amino acid metabolism disorder | Phenylketonuria (1:10,000 live births) |
Trisomy 13 (Patau syndrome) | 1 in 12,000 live births (3:2 M:F) |
SIDS | 1-2/1000 live births (3:2 M:F). Rare <1 month, peaks at 2-4 months, 95% <6 months. |
SIDS risk factors | Low birth wt. Low SES. Drug addicted mother. Maternal smoking. Prone sleeping position. FH of SIDS. |
Esophageal cancer | Peak incidence in 5th-7th decades. M:F 3:1 |
Pancreatic cancer | 34,000 deaths / year in US. 2nd most common GI ca. 4th most common cause of ca death. Incidence increased 3-fold in 40 yrs. Increases with age, peaks 5th-6th decades |