Table 1.
Diagnostic criteria for major disease processes in the Wake Forest cohort examined.
| Organ/Disease | Criteria for Diagnosis |
|---|---|
| Diabetes | Hemoglobin A1c (HbA1c) >6.5% |
| 3 fasting blood glucose measurements > 100 mg/dL | |
| Any non-fasted blood glucose > 200 mg/dL | |
| Kidney | BUN > 30 mg/dl or Cr > 1.1 mg/dl |
| Loss of renal volume >50% | |
| Lung | Pulmonary consolidation on CT scan or emphysema >25%; SPO2 < 80%; Respiratory rate >80 bpm |
| GI | Any lesion on endoscopy |
| Diarrhea (severity code >2 for >5 days) | |
| Skin | Persistent dermatitis, alopecia or loss of pigmentation |
| Heart/CV | Murmur detected on auscultation or echocardiography; MAP >120 |
| Adult stroke volume <5 ml & CO <0.5 L/min at >7y | |
| Brain | Y/N MRI lesions visible on SWI |
| Neurologic abnormality on clinical exam | |
| Cataracts | Any lens opacity on annual slit-lamp exam |
| Behavior | Any behavioral abnormality requiring individual management plan |
| Cancer | Any neoplastic disease (imaging or biopsy) |
| Testicular atrophy | Testis volume <10 ml each after 7 years of age |
| Bone | Adult bone mineral content (BMC) < 274 g or density (BMD) < 0.373 g/cc |
| Obese Underweight | Obesity: Waist Circumference > 45 cm or DEXA Body Fat > 30% |
| Underweight: Waist Circumference < 25 cm or DEXA Adult Body Fat < 12.3% |
BMC: bone mineral content; BMD: bone mineral density; bpm: beats per minute; BUN: blood urea nitrogen; CO: cardiac output; Cr: serum creatinine; CT: computerized tomography; CV: cardiovascular; DEXA: dual energy X-ray absorptiometry; MAP: maximum arterial pressure; mg: milligram; ml: milliliter; MRI: magnetic resonance imaging; SPO2: percent blood oxygen saturation; SWI: susceptibility-weighted imaging