The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

BACKGROUND: Neonatal diabetes is a rare disease characterized by hyperglycaemia within the first 3 months of life and requiring insulin treatment; it can either be transient (TNDM) or permanent (PNDM). Alterations at band 6q24 and heterozygous activating mutations in KCNJ11, the gene encoding the pore-forming subunit of the KATP channel, can cause neonatal diabetes. Aims We screened the 6q24 region, KCNJ11, GCK, FOXP3 and IPF1 genes for mutations in families with PNDM or TNDM to establish a phenotype-genotype correlation. METHODS: Twenty-two patients with neonatal diabetes were recruited. Inclusion criteria were insulin-treated diabetes diagnosed within the first 3 months and insulin treatment for at least 15 days. Clinical data were recorded in a questionnaire. RESULTS: We identified 17 genetic alterations in our patients: six alterations at the 6q24 band associated with TNDM and nine mutations in KCNJ11, five of which were novel. The analysis for a phenotype-genotype correlation showed that patients with 6q24 alterations had a lower birth weight and were diagnosed earlier than patients with KCNJ11 mutations. At follow-up of the TNDM patients with genetic alterations, 43% developed diabetes or impaired glucose tolerance in later life (one with 6q24 duplication and two with N48D and E227K mutations at KCNJ11 gene). Furthermore, half the first-degree relatives who carried a genetic alteration but who had not suffered from neonatal diabetes were diagnosed with diabetes or impaired glucose tolerance before the age of 30 years. CONCLUSIONS: KCNJ11 mutations are common in both TNDM and PNDM and are associated with a higher birth weight compared with patients with 6q24 abnormalities. Patients with TNDM should be screened for abnormalities in glucose metabolism in adult life.

[Materno-fetal nutritional status related to vitamin E]. / Estado nutricional materno-fetal de vitamina E.

There are few papers about the placental transfer of vitamin E in human beings. It is known that umbilical cord vitamin E levels are significantly lower than in mother's plasma. The aim of this study was to analyze the relationship between the vitamin E nutritional state between newborn infants and their mothers. The plasma levels of vitamin E and lipids at birth have been measured by using spectrophotometric methods. The statistical analysis (Student's "t" test for paired data) shows that the plasma levels of vitamin E in the newborn infants are significantly lower than that their mother's, but the nutritional indices (vitamin E/phospholipids and vitamin E/total lipids) show no statistical differences. There is a close correlation between umbilical cord vitamin E concentration and vitamin E levels in the mother's plasma. We have demonstrated that the vitamin E nutritional state of term newborn infants is equivalent to that of their mothers. On the other hand, nutritional indices such as vitamin E/phospholipids and vitamin E/total lipids, are better than the single vitamin E levels to evaluate the nutritional state of tocopherol.

[Determining factors of nutritional status in a pediatric surgical unit]. / Factores determinantes del estado nutricional en una población pediátrica médico-quirúrgica.

Nutritional assessment was made in 134 pediatric patients before surgery in order to analyze the influence of age, sex anthropometric nutritional index and type of surgical operation (urgent vs elective). The anthropometrical index, hematology measurements and serum protein levels were compared by using a one-way ANOVA and a linear correlation was performed when appropriate. The type of surgery and age of the patient were the factors which influence nutritional status the most among the pre-operatively screened surgical pediatric patients. In addition, pre-albumin, retinol-binding protein and acute-phase proteins have been shown to be affected by stress and appear to be more sensitive indicators of nutritional state than comparison of the types of surgery.

[Importance of the function of polymorphonuclear neutrophils in intrinsic and extrinsic asthma. Interaction of whole serum in the control of cellular activity]. / Importancia de la función de los polimorfonucleares neutrófilos en el asma intrínseco y extrínseco. Interacción del suero total en el control de la actividad celular.

A study was made of polynuclear leucocyte function: chemotaxis, NBT reduction and the influence of total plasma on chemotaxis, was investigated in a large group of asthmatic paediatric patients, both during and between asthmatic attacks. It has been proved that polynuclear function is different in the two types of asthma. During the asthmatic's crisis and in the intrinsic patients in intercrisis periods, there is a polynuclear neutrophil hyperreaction when the chemotaxis and the NBT reduction are raised. An inhibited chemotactic activity in the plasma of these patients is noted. This activity doesn't produce irreversible effects on the cells; it acts as a regulating mechanism on the chemotactic factors found in plasmatic fractions.