Life-threatening cardiac involvement throughout life in a case of Costello syndrome.

Costello syndrome is characterized by poor postnatal growth, mental retardation, curly hair, coarse face, loose skin of the hands and feet, and nasal papillomata. Patients with Costello syndrome have a high incidence of cardiac involvement, such as arrhythmias, hypertrophic cardiomyopathy, or congenital anomalies. The importance of cardiac involvement in Costello syndrome has not been strongly emphasized thus far, although arrhythmia and hypertrophic cardiomyopathy are both serious forms of cardiac involvement.

Abnormal B cell response of protein kinase C in some common variable immunodeficiency.

The localization of protein kinase C (PKC) was investigated in B cells or B cell lines derived from patients with common variable immunodeficiency (CVI) and healthy controls. Stimulation of the healthy control B cells by phorbol ester or anti-mu induced PKC activation and translocation to the plasma membrane after 10 min. In contrast, in the CVI-B cells, no apparent PKC translocation was induced by either phorbol ester or anti-mu stimulation.

Abnormal response to exercise, face immersion, and isoproterenol in children with the long QT syndrome.

The present study was performed to observe the change of QT interval by sympathetic stimulations in patients with the long Qt syndrome (LQTS). The study group consisted of 6 children with LQTS and 6 healthy children without QT prolongation. All LQTS patients had syncopal episodes.