Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

Aims: To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated cardiomyopathy (DCM).

Methods And Results: We screened a cohort of 97 ARVC and 257 DCM unrelated index patients for PLN mutations and evaluated their clinical characteristics. PLN mutation R14del was identified in 12 (12 %) ARVC patients and in 39 (15 %) DCM patients.

Genetic basis of malignant channelopathies and ventricular fibrillation in the structurally normal heart.

Sudden cardiac death occurs in a minority of patients in the absence of structural or functional abnormalities. In this category, pure electrical heart diseases are responsible for a large number of these unexpected deaths. These conditions include the long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome (collectively referred to as channelopathies) and idiopathic ventricular fibrillation.

Rapid left ventricular recovery after cabergoline treatment in a patient with peripartum cardiomyopathy.

The aetiology of peripartum cardiomyopathy (PPCM) is still largely unknown. Recent evidence suggests that the breakdown products from prolactin can induce cardiomyopathy. Prolactin secretion can be reduced with bromocriptine which had beneficial effects in a small study.

What is the benefit of preoperative sperm preservation for patients who undergo restorative proctocolectomy for benign diseases?

Purpose: In patients with benign colorectal diseases undergoing a restorative proctocolectomy with an ileal pouch-anal anastomosis, semen cryopreservation seems rational to enable the possibility of procreation in case surgery leads to sexual disorders or impotence. The aim of this study was to determine the preoperative and postoperative semen quality in patients undergoing ileal pouch-anal anastomosis. In addition, the study sought to determine the incidence of surgery-induced sexual dysfunction to evaluate the economic efficiency of semen cryopreservation as compared with alternatives such as microsurgical epididymal sperm aspiration.

[Proctocolectomy with an ileal pouch-anal anastomosis; results from 100 consecutive patients in the Academic Medical Center at Amsterdam, 1994-1999].

Objective: To evaluate the results of proctocolectomy with creation of an ileac pouch anal anastomosis (IPAA).

Design: Retrospective.

Method: Of the 100 patients in whom an IPAA procedure was performed in the period 1994/'99 in the Department of Surgery of the Academic Medical Centre, Amsterdam, the Netherlands, data were collected on the complications: in the patients with a follow-up of over 12 months the functional results were studied.