Evidence of a long QT founder gene with varying phenotypic expression in South African families.

We report five South African families of northern European descent (pedigrees 161, 162, 163, 164, and 166) in whom Romano-Ward long QT syndrome (LQT) segregates. The disease mapped to a group of linked markers on chromosome 11p15.5, with maximum combined two point lod scores, all generated at theta = 0, of 15.43 for the D11S922, 10.51 for the D11S1318, and 14.29 for the tyrosine hydroxylase (TH) loci. Recent studies have shown that LQT is caused by an Ala212Val mutation in a potassium channel gene (KVLQT1) in pedigrees 161 to 164. We report that the same mutation is responsible for the disease in pedigree 166. Haplotype construction showed that all the families shared a common haplotype, suggesting a founder gene effect. DNA based identification of gene carriers allowed assessment of the clinical spectrum of LQT. The QTc interval was significantly shorter in both carriers and non-carriers in pedigree 161 (0.48 s and 0.39 s, respectively) than the same two groups in pedigree 161 (0.52 s and 0.42 s, respectively). The spectrum of clinical symptoms appeared more severe in pedigree 162. The possible influence of modulating genetic factors, such as HLA status and sex of family members, on the expression of an LQT founder gene is discussed.

Psychotherapeutic approach to the management of the severely injured patient.

In this modern day and age, severe injury has become the dire consequence of an ever-increasing number of motor vehicle, industrial and mining accidents as well as sport-, military- and terror-related incidents that occur. The management of the severely injured patient is mostly directed on an exclusively physical level. Often, very little attention is afforded to the psychosocial factors that prevail following physical trauma. The author describes and discusses how holistic multidisciplinary intervention within the medical milieu facilitates a more psychotherapeutic approach to the management of severely injured patients. This approach facilitates physical recovery and increases the rate of readjustment and reintegration into society, of those who have sustained severe injury.

Sudden cardiac death during ambulatory ECG monitoring. A report of 2 cases.

Two cases of sudden cardiac death during ambulatory ECG monitoring, each with an episode of torsade de pointes as part of the terminal dysrhythmia, are reported. In the first case, pause-dependent changes of the TU waves favour early after-depolarisations and triggered activity as the initiating mechanism of torsade. Quinidine therapy was probably an aggravating factor. Torsade was not initiated in a pause-dependent fashion in the second patient, who had ECG evidence of an episode of ischaemia as trigger for the terminal dysrhythmia. Both patients had impaired left ventricular function and underlying coronary artery disease.

Intravenous streptokinase in acute myocardial infarction.

The safety and efficacy of streptokinase (STK) (Kabikinase; Keatings) in restoring vessel patency in 70 patients with acute myocardial infarction are reported. Return of vessel patency occurred more frequently (76%) in patients receiving STK than in patients in a control group (12%) (P = 0.001). The main complication was bleeding, which invariably resulted from invasive procedures. Dangerous dysrhythmias were uncommon and no fatalities were caused by STK administration. It is recommended that thrombolytic therapy be started as early as possible in patients with acute myocardial infarction, who can then be referred to centres equipped for coronary angiography for further management. Unnecessary invasive procedures should be avoided.