Hereditary elliptocytosis is a heterogeneous disorder resulting from defects in the erythrocyte membrane skeleton. Although some cases of elliptocytosis result from defects in spectrin, the specific structural abnormality has yet to be identified in the majority of cases. Protein 4.1 plays an essential role in erythrocyte membrane physiology, and deficiencies have been implicated in only a few ...

A congenitally dysfunctional form of prothrombin, Prothrombin Himi, shows reduced fibrinogen clotting activity, although it retains full hydrolytic activity toward synthetic substrates. To elucidate the structural abnormality of the variant prothrombin, we first performed genetic analysis of dysprothrombin. Polymerase chain reaction amplification of the exons 8 through 14 of the proband and her...

It has been recognized for many years that there are a few entities in which a characteristic combination of clinical and chemical abnormalities is genetically transmitted. The number of diseases and apparently harmless metabolic anomalies which have been recognized as belonging to this group has increased considerably since Garrod in 190225 described alkaptonuria as an ' inborn metabolic error...

background: different investigation showed that 5-methoxypsoralen and 8- methoxypsoralen reduce birth rates in the rats. objective: in this study we worked out the effect of methoxsalen together with ultraviolent a (uva) radiation on mature balb/c mice spermatogenesis. materials and methods: the ld50 standard was determined 160 mg/kg and the uva dose which causes erythema was calculated 0.046 j...

In approximately 5 percent of sudden cardiac deaths, no demonstrable anatomic abnormality is found. Some cases are caused by sudden arrhythmia death syndrome. A prolonged QT interval is a common thread among the various entities associated with sudden arrhythmia death syndrome. A number of drugs are known to cause QT prolongation (e.g., terfenadine), as are hypokalemia, hypomagnesemia, myocardi...