Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0242339 (dyslipidemia)
 13,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension. Vision becomes markedly impaired by about age 30 years. The BBS is genetically heterogeneous entity with considerable phenotypic variability. Other associated problems include CNS-related ataxia, abnormal gait, and facial hypotonia, as well as anomalies such as high palate, hearing loss, and cardiac malformations. In males, there is oligospermia, leading to infertility. Around 50–80% of BBS patients have renal malformations (like cyst, agenesis or scarring) and renal dysfunction leading to end-stage renal disease. There are no pigmentary changes before the age of 1–2 years. Later, subtle pigmentary changes appear in the macula or peripapillary area. Several years later, pigments appear in the equatorial region, along with attenuation of retinal blood vessels and waxy pallor of the optic disc. Eventually, the macula may show atrophic changes (Figs. 33.1, 33.2 and 33.3). Electroretinography (ERG) shows involvement of rods and cones and is abnormal even before the fundus shows changes. A perimacular hyperfluorescent ring can be seen.
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PMID:Ciliopathy: Bardet-Biedl Syndrome. 3057 6

Lower extremity peripheral artery disease (PAD) refers to atherosclerotic disease that involves the iliac, femoral, or more distal arteries of the lower extremities. This condition affects 8 to 12 million Americans. Risk factors include advanced age, hypertension, dyslipidemia, diabetes, and cigarette smoking. Approximately 10% to 30% of patients with PAD present with the classic symptom of intermittent claudication. Some patients experience symptoms such as pallor, hair loss, or nonhealing wounds, and up to half of patients are asymptomatic. There are differing recommendations from various organizations for screening of asymptomatic patients. If PAD is suspected, the ankle-brachial index is the preferred first test. Further tests, including duplex ultrasonography or angiography, may be warranted depending on the clinical situation. Therapy for patients with PAD consists of lifestyle modifications, which include diet modification, exercise programs, and smoking cessation. Medical therapy consists of antiplatelet and statin therapies for secondary prevention of vascular complications, and consideration of drugs such as cilostazol for symptom control. Patients with acute limb ischemia should be referred emergently for evaluation and possible revascularization. Patients with lifestyle-limiting claudication despite lifestyle modification and medical therapy and patients with chronic limb ischemia (eg, nonhealing wounds) should be considered for revascularization.
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PMID:Cardiovascular Disease: Lower Extremity Peripheral Artery Disease. 3099 99