SUMMARY
Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis of various etiologies. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment of the underlying hyperthyroidism. Because of the phenotypic similarity of these conditions, we hypothesized that TPP might also be a channelopathy. While sequencing candidate genes, we identified a previously unreported gene (not present in human sequence databases) that encodes an inwardly rectifying potassium (Kir) channel, Kir2.6. This channel, nearly identical to Kir2.2, is expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone. Expression of Kir2.6 in mammalian cells revealed normal Kir currents in whole-cell and single-channel recordings. Kir2.6 mutations were present in up to 33% of the unrelated TPP patients in our collection. Some of these mutations clearly alter a variety of Kir2.6 properties, all altering muscle membrane excitability leading to paralysis.
Study objective-The aim ofthe study was to examine cardiovascular risk factors to see how these might explain differences in cardiovascular disease mortality among Chinese, Malays, and Indians in the Republic of Singapore. Comparisons were made between the respondents, the sample, and the sampling frame, and no major discrepancies were found by age, sex, and ethnic group; the youngest age group had slightly lower response rates than the older ones.
PROCEDURESAll clinics were held on Saturday mornings between 0900 and 1200 hours and the subjects were asked to fast from 2100 hours the previous evening. A questionnaire was administered by a field investigator (a nurse trained in interview techniques) and personal details including ethnic group (derivation previously described),' present and past occupations, medical history, drug usage, diet, and family medical history were obtained. Questions were asked on alcohol intake (including frequency, type and quantity, similar to those used in the British Regional Heart Study2 based on the UK General Household Survey 1972-73),3 smoking (same questionnaire as used in MONICA project of WHO),4 and chest pain.
Renal cholesterol embolization is a rare disease occurring usually in elderly men who had undergone an angiographic procedure or vascular surgery. We report a man who developed systemic cholesterol embolic disease and acute renal failure after coronary angiography. A review of the English literature for renal cholesterol embolic disease revealed a high incidence of eosinophila (71 %). Livedo reticularis and digital infarcts occurred in more than 30% of patients. Forty percent of patients required dialysis for acute renal failure of whom only one fifth recovered sufficient renal function to stop dialysis. The overall mortality was high at 64%. Skin, muscle and kidney biopsies remain the main tools for diagnosis.
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