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.

Estudio clínico para evaluar la efectividad de ciprofloxacino ótico al 0,3 por ciento en niños con otitis externa difusa / Clinical study to evaluate the efficacy of 0,3 por ciento ciprofloxacin in children with diffuse external otitis

Objetivo: El objetivo de este estudio es evaluar la efectividad del tratamiento con ciprofloxacino ótico 0,3 por ciento en niños afectos de otitis externa difusa en la práctica clínica habitual. Método: Estudio rnulticéntrico, abierto, no comparativo, de 67 pacientes de ambos sexos con una edad media de 8,85 años. La duración del tratamiento osciló entre 8-10 días. Resultados: La disminución del número de pacientes con el signo del trago, hiperemia e hipoacusia fue estadísticamente significativa (p <0,001) entre la visita basal y la final. Asimismo, se encontraron diferencias estadísticamente significativas (p <0,001) en el edema, otorrea y dolor entre la visita basal y final. La valoración de la efectividad global por parte del investigador y del paciente fue excelente/buena en el 95 y 94 por ciento (le los casos, respectivamente. La eficacia bacteriológica fue del 98,5 por ciento de todos los casos. Conclusión: Los resultados de este estudio indican que ciprofloxacino tópico 0,3 por ciento en gotas óticas es efectivo en el tratamiento de la otitis externa difusa en pacientes pediátricos y constituye una óptima alternativa terapéutica en esta patología (AU)

[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.

[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.

[Meningococcal sepsis in our area. Study of the disease severity factors and therapeutic management over a 10-year period]. / La sepsis meningocócica en nuestro medio. Estudio de los factores de gravedad del proceso y de la actitud terapéutica durante 10 años.

Meningococcal sepsis with cardiovascular manifestations is one of the leading causes of pediatric intensive care admission (14.85%) in our area. We carried out a two phase study over period of 10 years from 1979 to 1988, involving a retrospective analysis of clinical and analytical manifestations in order to determine a prognostic score of the severity of meningococcal infections in our area. A total of 86 cases were studies over a two year period. After establishing the prognostic score, we applied a previously assayed therapeutic protocol, based on the number of criteria of severity, in 170 children selected as having the same criteria. The factors of seriousness considered were: Appearance of the first symptoms less than 12 h. previously, appearance of petechia less than 6 h. previously, hyperthermia, shock at admission, absence of meningitis, fulminating course of purpura and convulsions, leukopenia less than or equal to 5,000 mm3, prothrombin activity less than or equal to 45%, platelets less than or equal to 75,000 mm3, fibrinogen less than or equal to 250 mgrs% and FPD greater than 40 micrograms/ml (p less than or equal to 0.01 (CHI SQUARE]. In the first phase of study, overall mortality was associated with the presence of three criteria, and was highest when more than seven criteria were present. The results indicate that mortality from meningococcal sepsis is linked to fulminating deterioration of hemodynamics and DIC.(ABSTRACT TRUNCATED AT 250 WORDS)

[Studying the levels of endotoxemia in meningococcal sepsis. Its relations to pregnancy and antibiotic treatment]. / Estudio de los niveles de endotoxemia en las sepsis meningococias. Su relación con la gravedad del proceso y el tratamiento antibiótico.

The most frequent cause of toxic shock in our area is meningococcal sepsis. It is currently assumed that endotoxin produce by this bacteria, a lipopolysaccharide with toxic properties, is able to trigger shock and DIC by stimulating both arachidonic acid pathways, among other actions. Previous studies in our laboratory demonstrated significant differences (p +/- 0.001) in the amounts of endotoxins released in vitro by strains from patients and healthy carriers and statistically related criteria of severity with mortality in 256 patients in our center over the last 10 years. In the present study we attempted to establish whether plasma levels of endotoxin were correlated with the severity of the disease. We studied 32 patients with meningococcal sepsis, dividing the subjects into two groups: those in whom six or more criteria of severity were present, and those in whom less than six criteria were found. Blood levels of endotoxin were determined upon admission and after the administration of antibiotics (penicillin and chloramphenicol) using the limulus test with a chromogenic substrate (Coatest, Endotoxin, Kabivitrum, Sweden). Levels of endotoxins were significantly higher in patients with more than six criteria of severity both upon admission (0.6 +/- 0.03) ng/ml) and 4 h. afterward (0.74 +/- 0.006 ng/ml) in comparison to children in whom the clinical picture was less serious (0.27 +/- 0.18 ng/ml and 0.27 +/- 0.18 ng/ml and 0.27 +/- 0.16 ng/ml7 t = 5.8 y t = 5.6 respectively. Endotoxin levels were highest in patients presenting shock, disseminated intravascular coagulation in the hypocoagulability phase and more than 8 criteria.(ABSTRACT TRUNCATED AT 250 WORDS)

[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.