A seven months old infant presented with recurrent episodes of acidosis and hypoglycemia triggered by fasting and febrile infections. The diagnosis of fructose-1,6-diphosphatase deficiency was made by demonstrating the enzyme deficiency in a liver biopsy specimen. Fructose-1,6-diphosphatase is a key enzyme of gluconeogenesis. Fructose-1,6-diphosphatase deficiency results in hypoglycemia and lactic acidosis during episodes of fasting. Diagnosis is made preferably by liver biopsy. Treatment includes elimination of fructose and sucrose from the diet and avoidance of fasting. Acute attacks are treated by intravenous infusion of glucose and bicarbonate if necessary.

Acidosis, Lactic↗

PubMedDate not supplied

[Intersexuality and malignancy. Case report of an unreported association between a malignant disease in a child with androgen resistance syndrome in comparison with the most frequently expected malignant tumors in children with intersexuality].

Patients with specific disorders in sexual differentiation have an increased risk for development of malignancies. The most frequent malignant tumors to be expected especially in childhood are gonadoblastoma (carcinoma-in-situ) by children with pure gonadal dysgenesis (Swyer-syndrome) with a calculated risk of approximately 30%. In this disorder the so called streak gonads have an age related, increased risk for development of malignancies. Furthermore, malignant tumors may be expected in children with mixed gonadal dysgenesis (in 10-20%), pure hermaphroditism (in the testes significantly higher than in the ovaries) and with androgen insensitivity syndrome. Risk values for the last are reported in the literature very differently. Rare disorders in this context are virilizing tumors of the adrenal cortex, the DRASH-syndrome (nephropathy, most male pseudohermaphroditism, Wilms-tumor) and similar disorders. Practical prophylactic and therapeutic procedures of the separate disorders respectively were discussed. We report about a child with androgen resistance syndrome and acute leukaemia. This would be to our knowledge the first description of such an unusual association of these two distinct disorders.

Androgens↗

PubMedDate not supplied

Quality of paediatric IDDM care in Germany: a multicentre analysis. German Paediatric Diabetology Group.

Quality management has been applied in recent years to improve the care of children and adolescents with insulin dependent diabetes mellitus (IDDM). In 1995 the German Paediatric Diabetology Working Group published standards on quality control, in which relevant parameters on structure, process and outcome of care were defined. A computer software programme-developed at the University of Ulm under the auspices of the German Secretary of Health-has been used for quality control with central anonymous analysis in a nationwide survey. Data from 23 paediatric centres with 2407 patients seen between January and June 1996 were evaluated. The results showed an admission rate to hospital of 23.8 per 100 patient-years with an average duration of in-patient stay of 2.74 days/year. 80% of the patients were treated with an intensive insulin therapy regimen comprising three or more injections daily. The overall metabolic control was reasonably good with a mean HbA1c value of 7.8%. The rate of severe hypoglycaemia complicated by coma and/or convulsions was six per 100 patient-years and of ketoacidosis one per 100 patient-years. Unfortunately screening for diabetic retinopathy and nephropathy was not carried out consistently. The incidence was 44% and 33% respectively.

Adolescent↗

PubMedDate not supplied

Validation of dry heat inactivation of bacterial endotoxins.

Bacterial endotoxins (ETs) are lipopolysaccharides from the cell wall of Gram negative bacteria. ETs get into the environment as a result of autolytic desintegration of the bacterial cells. There exist a number of depyrogenation methods, either serving to remove or to inactivate ET. The most common means of ET inactivation is dry heat. Unfortunately no uniform regulation exists describing the conditions for sufficient ET inactivation. While the USP and FDA require an ET reduction of 3 log steps, no European regulation exists regarding depyrogenation of final containers for parenterals. However, the Ph. Eur. specifies the temperature and time conditions for depyrogenation of glassware in the pyrogen test monograph, allowing to choose between the two variants 250 degrees C/30 minutes or 200 degrees C/60 minutes which are not equivalent. In the present study those conditions for depyrogenation of glass containers in production of parenterals were investigated which, on the one hand, are technically feasible and, on the other hand, comply with the requirements of the main Pharmacopeias; furthermore, an ET preparation suitable for validation studies was selected. The preparation of ET indicators, the dry-heat inactivation and the recovery of ET are described in detail. Based on the results obtained, it is recommended to follow a defined treating temperature and period for safe depyrogenation of glass containers for parenterals, which results in a 4 log step reduction in ET without fillers. Thereby the USP/FDA requirement for a 3 log step reduction as well as the 200 degrees C/60 minutes requirement variant given in the Ph. Eur. can be fulfilled.

Cell Wall↗