Holt-Oram syndrome.

The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 24 years old male patient with a personal history of bilateral coxa vara surgically corrected on the right at the age of 8 years, complicated by osteochondritis, short stature (160 cm), underweight (37 kg, BMI 14.45 kg/cm(2)), triangular face, micrognathia, down slanting palpebral fissures, hypertelorism, low set ears, scoliosis, narrow shoulders, shortened left arm, left thumb agenesia, limited supination, abnormal toes, hypoplastic muscles, atrial septal defect ostium secundum type, incomplete right bundle branch block, hypoacusia and normal intelligence.

Microcoil embolization for ablation of septal hypertrophy in hypertrophic obstructive cardiomyopathy.

BACKGROUND: Percutaneous transcatheter occlusion with ethanol injection of septal arteries is an efficient treatment procedure of hypertrophic obstructive cardiomyopathy (HOCM). The aim of our study is to evaluate the feasibility and efficiency of septal artery embolization with microcoils. METHODS: The microcoils were delivered through the guide-wire lumen of a 2mm-diameter coaxial balloon positioned inside the target vessel as distally as possible. One or more 0.018"-straight microcoils (Hilal straight coils, Cook, USA) were used for each target vessel until complete flow obstruction was noted. The intraventricular pressure gradient was measured before, during and after the procedure. Septal branch occlusion was finally documented by coronary angiography. RESULTS: We treated 7 patients (pts) (male: 5 pts; mean age: 48 (10 years). All patients were symptomatic (NYHA class 3 or 4). The target vessels were successfully occluded in all patients, without complications. Moderate pain was recorded during and after the procedure and the CK level increased five- to ten-fold. The pressure gradient diminished during the procedure from 72 +/- 21 mm Hg to 30 +/- 15 mm Hg. The number of coils delivered ranged from 3 to 7 / patient. The embolized septal branches: 1 vessel in 5 patients; 2 vessels in 1 patient; 3 vessels in 1 case. After the procedure the pressure gradient, evaluated by transthoracic echocardiography, was 34 +/- 16 mm Hg and 42 +/- 12 mm Hg at 3 month-follow-up. Clinical improvement was recorded in all patients after the procedure (NYHA class 1 or 2). Temporary pacing was necessary in 3 patients during and immediately after the procedure but no patient needed permanent pacing. CONCLUSIONS: Microcoil embolization is an efficient and safe approach for transcatheter ablation of septal hypertrophy in HOCM. This technique induced myocardial necrosis without the toxic effects of alcohol, reducing the risk of complications (permanent pace-maker implantation, ethanol flow to other myocardial regions).

A pilot study for the dietary management of chronic renal failure

This study was undertaken with a view to providing an inexpensive, low-protein diet for dietary therapy in chronic renal failure, based on ingredients which are easily available in the West Indies. The menu included modifications of traditional and other recipes. Chemical analyses were conducted on the raw and cooked ingredients. The initial diet provided 24.4-26.7 g protein and 2691-2879 Keals/day and the final diet incorporating patients' suggestions provided 29.3-37.5 g protein and 2559-3135 Keals/day. Patient trials using 3 volunteer out-patients from the Renal Clinic of the University Hospital of the West Indies were conducted to assess the degree of adherence to the diet and its effectiveness. These patients were diagnosed as suffering from chronic renal failure. Adherence was assessed by using the 24-hour dietary recall method and by comparison of the volunteer's blood urea: creatinine ratios with reference ratios for uraemic patients established on low protein diets and on normal diets. Assessment of effectiveness was based on changes in their subjective symptoms and blood chemistry. Over the period studied, two of the patients adhered to the diet and showed improvement in uraemic symptomatology and blood chemistry. The third did not adhere closely to the diet and therefore her improvement could not be assessed. The very low protein diet achieved by omitting eggs and milk from Menu I was used in a study of the kinetics of urea metabolism and recycling. Five investigations have been carried out to date and these results will be reported elsewhere (Summary)