Glycogen Storage Disease Type I and III and Pyruvate Carboxylase Deficiency: Results of Long-Term Treatment with Uncooked Cornstarch

ABSTRACT. Three patients with glycogen storage disease type I (GSD-I), three with glycogen storage disease type III (GSD-III) and one with pyruvate carboxylase deficiency (PCD) could be successfully switched over from continuous nocturnal gastric drip feeding (GDF) to nocturnal feeding with uncooked cornstarch in yoghurt or "quark" (CSF) at the age of 4–20 years. The new kind of therapy is much more convenient for the patients. When followed up to 30 months, patients on CSF showed the same clinical and laboratory findings as during the last two years with GDF. CSF was not introduced to three patients with GSD-I. Two of them refused the permanent starch-yoghurt meals. In the third patient the morning blood glucose concentrations were too variable.     

Standardized Assessment of Psychological Well-Being and Quality-of-Life in Patients with Implanted Defibrillators

The ICD has become a standard treatment for patients with malignant arrhythmias. Despite its benefits it may cause additional discomfort to the patients. Thus, quality-of-life needs to be assessed in these patients. Previous studies have used only small samples or unstandardized measures of quality-of-life that do not allow comparisons with other patient groups. The present study used standardized questionnaires for a cross-sectional assessment of psychological well-being and quality-of-life in ICD patients and to compare them to a similar group of coronary artery disease (CAD) patients without ICD. Overall, quality-of life did not differ between both groups, ICD patients being less anxious than the CAD group. With increasing numbers of ICD shocks, however, the percentage of psychologically distressed ICD patients rose from 10% to > 50%. Psychologically distressed patients had significantly worse scores on most of the quality-of-life subscales, showed less treatment satisfaction, and more negative attitudes. It is concluded that ICD patients have an acceptable mean quality-of-life and low mean anxiety. However, a relevant subgroup of about 15%, especially patients with frequent shocks, experience psychological distress and reduced quality-of-life and should receive special care.     

Food folates and the British total diet study

5-methyltetrahydrofolate, the most bioavailable folate was measured by high-performance liquid chromatography in the British total diet study, a survey designed primarily to monitor food contaminants. A total 5 MeTHF of 130.1 μ g (±21.7, n=6) was measured in the food groups which made up the average daily food intake. This value compares well to the estimated average requirement (EAR) of folate recently set by the Department of Health at 150 μg/day. The survey present here is an accurate reflection of folate consumed as all food samples were prepared ready for consumption.     

Diastolic intraventricular gradient in hypertrophic cardiomyopathy with apical hypertrophy

Patients with hypertrophic cardiomyopathy and additional diastolicflow abnormalities are relatively rare. This report describesa case of apical ventricular hypertrophy with complete systolicobstruction and holodiastolic intraventricular pressure gradient.