The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Four patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are presented. Clinical onset in the form of acute encephalopathy occurred between the ages of 9 months and 3 years. The clinical course included recurrent metabolic crises in 4 patients, cardiac involvement and retinopathy in 3, and myopathy in 2. None had signs of peripheral neuropathy. Three patients died and one is currently well. Hypoketotic hypoglycemia with C6-C14 3-hydroxy-dicarboxylic aciduria during metabolic crises associated with decreased plasma carnitine levels was the main biochemical finding. Enzymologic studies disclosed long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in all patients. Homozygosity for a G to C mutation at position 1528 in the encoding region of the enzyme was found in 2 patients. Histologic and electron microscopic studies of liver biopsy specimens revealed steatosis in 3 patients and mitochondrial abnormalities in 2. Skeletal muscle biopsies disclosed nonspecific degenerative changes in 2 patients and were normal in the remaining 2. Ultrastructural abnormalities in mitochondria were found in 3 patients. A review of the literature combined with the data from our series (total 22 patients) disclosed acute clinical onset in 77% of cases and subacute in 23%. In the combined series, the average age at onset was 11 months, family history was positive in 32% of patients and overall mortality was 50%. We describe the clinical spectrum of this disease and emphasize that, among patients with suspected beta-oxidation defects the finding of pigmentary retinopathy should lead to the suspicion of long-chain 3-hydroxyacyl-coenzyme A-dehydrogenase deficiency.

[Multicenter evaluation of a diabetes program in primary care in Tarragona]. / Evaluación multicéntrica de un programa de diabetes en la atención primaria de Tarragona.

To evaluate a provincial diabetes program for primary care in Tarragona 14 months after its implementation, the data provided by all centers were evaluated. The participants were 8 CAPS and the professionals of a rural area, with a reference population of 170,159. A total of 1,766 diabetic patients were sensed. 131 were type I (7.4%) and 1,635 type II (90.6%). The health care variables of 1,197 patients (67.7%) and the rate of complications of 654 (54.6%) were assessed. A high prevalence of hypertension (50.0%) and dyslipemia (40.5%) were found associated with diabetes. Overall 868 individuals (72.5%) received individualized education in the clinic; 112 of these (12.9%) were included in collective education programs for groups. At the time of this evaluation, the proportion of patients treated with insulin (174/545) was significantly higher than that found before the program (79/402, p less than 0.0001). The practice of glycemic self assessment at home was also significantly increased (82/691 versus 440/1, 124; p less than 0.0001). The initial impact on the professional and diabetic patients of our area has been remarkable. Although the planning of multicentric evaluation systems in complex, it is possible to implement it if the data and recording system are coordinated.

[Mid-term evaluation of a provincial program of diabetes]. / Evaluación a medio plazo de un programa provincial de diabetes.

The following were analysed with the object of evaluating a provincial diabetes programme (Institut Català de la Salut. Tarragona Management Areas): a) training activities for professionals in primary health care, and b) some indicators of effectiveness. Between 1987 and 1989, 192 professionals of the institution (89 doctors [46.3%], 85 nursing specialists [44.2%], and 18 members of other health care areas [9.5%]) took part in 8 basic courses on diabetes and diabetological education. A subjective (opinion questionnaires) and objective (written tests) increase in theoretic knowledge was recorded. Continuous counselling from the programme has encouraged the development of 11 initiatives in aiding diabetics (both care and education), in centres in 7 regions in the province of Tarragona, which are presently offered to a reference population of 188,000 inhabitants (30-35% of all users). A provincial census has been started up, with data at present on 2,052 diabetics (189, or 9.3%, type I and 1,863, or 90.7%, type II). A strong increase was recorded in provincial dispensing of insulins by pharmacies (50% higher than in 1985), as well as of material for glucoketonuric and glycemic self-analysis (7-8 times higher than in 1985). Requests for glycosylated hemoglobin from the primary sector rose from 53 in 1986 to 634 over the first six months of 1989. The programme has contributed to enhance the quality of primary aid to diabetics in our regions.