Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine.

Coeliac disease (CD) development involves genetic (HLA-DQ2/DQ8) and environmental factors. Herein, the influence of the HLA-DQ genotype on the gut colonization process of breast-fed children was determined. A cohort of 20 newborns, with at least one first-degree relative with CD, were classified according to their HLA-DQ genotype into high, intermediate and low genetic risk groups, showing 24-28%, 7-8% and less than 1% probability to develop CD, respectively. Faecal microbiota was analysed at 7 days, 1 and 4 months of children's age by fluorescence in situ hybridization. When considering all data, Gram-negative bacteria and Bacteroides-Prevotella group proportions were higher (P<0.05) in the high than in the intermediate and low genetic risk groups. E. coli, Streptococcus-Lactococcus, E. rectale-C. coccoides, sulphate-reducing bacteria, C. lituseburense and C. histolyticum group proportions were also significantly higher (P<0.05) in the high than in the low genetic risk group. Correlations between these bacterial groups and the genetic risk were also detected (P<0.05). In addition, the number and type of CD relative seemed to influence (P<0.050) these bacterial proportions in children at CD risk. At 4 months of age, similar relationships were established between the high genetic risk to develop CD and the proportions of Streptococcus-Lactococcus (P<0.05), E. rectale-C. coccoides (P<0.05), C. lituseburense (P<0.05), C. histolyticum (P<0.05), Bacteroides-Prevotella (P<0.10) groups and total Gram-negative bacteria (P<0.05). The results suggest a relationship between HLA-DQ genes and the gut microbial colonization process that could lead to a change in the way this disorder is investigated.

Cribado de enfermedad celíaca en población infantil genéticamente seleccionada / Screening for celiac disease in children genetically selected

La enfermedad celíaca (EC) se desarrolla exclusivamente en individuos genéticamente predispuestos. El objetivo de este estudio prospectivo ha sido determinar la prevalencia de EC en una cohorte de niños HLA-DQ2 positivos. Para ello se realizó en primer lugar el HLA-DQ2 en sangre de cordón umbilical del recién nacido y posteriormente la EC fue confirmada mediante estudio serológico (anticuerpos antiendomisio y antitransglutaminasa). De un total de 1716 recién nacidos participaron en el estudio 1291 (75,23%) de los cuales 361 (27,97%) fueron HLA-DQ2 positivos. La prevalencia de EC en este grupo de riesgo genético fue de 9,54% (AU)

Celiac disease (CD) is developed in only genetically susceptible individuals. The aim of this prospective study is to investigate the prevalence of CD in a cohort of HLA-DQ2 positive children. Firstly, we determined the HLA-DQ2 in umbilical cord blood and subsecuently CD was confirmed by the positivity of serum antiendomisial antibodies and human tissue transglutaminase antibodies. From 1716 newborns 1291 (75,23%) were selected; 361 (27,97%) were HLA-DQ2 positives. In at-risk group the prevalence of CD was 9,54% (AU)

Estudio coste-efectividad de la aplicación del diagnóstico genético en la valoración de la enfermedad celíaca / Cost-effectiveness study of using genetic diagnosis in evaluation of celiac disease

La enfermedad celíaca (EC) se desarrolla exclusivamente enindividuos genéticamente predispuestos. El objetivo de esteestudio es valorar la utilidad de la determinación del HLADQ2en el despistaje de la EC en población de riesgo. Se hanestudiado un total de 682 individuos: 174 niños celíacos,191 familiares de primer grado de pacientes celíacos, 83niños con diabetes mellitus tipo I, 64 niños con diagnósticodudoso de EC y 164 controles. El HLA-DQ2 positivo lo presentanel 34,7% de los controles, el 96% de la población decelíacos, el 66% de sus familiares de primer grado y el72,2% de los niños diabéticos. El 51,5% de los pacientescon sospecha de enfermedad celíaca y diagnóstico no concluyenteeran HLA-DQ2 positivos y, en este grupo, todos losniños con anticuerpos antiendomisio positivos portaban elHLA-DQ2 aunque en ellos no se confirmara la EC. La caracterizacióngenética de los familiares de los niños celíacos descartala enfermedad en un 34%, no siendo necesario en ellosseguimiento serológico a largo plazo. La elevada prevalenciadel HLA-DQ2 en los niños diabéticos y en pacientes con serologíapositiva de EC y diagnóstico dudoso hace que el estudiogenético sea de escasa utilidad en el despistaje de la EC

Celiac Disease (CD) is developed in only genetically susceptibleindividuals. The aim of this study is to investigatewhether HLA-DQ2 typing is helpful in exclusion of CD inpatients at risk of developing CD. 682 individuals havebeen tested: 174 children with CD, 191 of first degreerelatives of celiac children, 83 children with type 1 diabetes,64 with CD uncertain diagnosis and 164 controls.HLA-DQ2 haplotype was present in 34,7% of controls,96% of celiac children, 66% of relatives, 72,2% of diabeticchildren and 51,5% of children with uncertain diagnosisof CD. In this group, all endomysial antibodies positivepatients with non confirmed CD were HLA-DQ2 positive.HLA-DQ2 typing in first-degree relatives of celiac patientscould eliminate 34% of the population from needing serialautoantibody testing. HLA-DQ2 typing in children with type1 diabetes and children with positive serology and uncertaindiagnosis of CD is not useful because of the high prevalenceof HLA-DQ2 positivity in these study groups

[Caroli's syndrome. Report of a case beginning in childhood with favorable course]. / Síndrome de Caroli: un caso de comienzo en la infancia y buena evolución.

Caroli's disease is a rare entity that is included in the fibropolycystic abnormalities of the bile ducts. Ultrasonographic patterns consist of evident dilatation of the bile ducts. Although it is thought to be a congenital disease, it usually presents in young adults and few cases have been reported in children. We present the case of a 10-year-old boy with Caroli's syndrome (Caroli's disease, congenital hepatic fibrosis and polycystic renal disease). Evolution was favorable.

Prevalence of CagA and VacA antibodies in children with Helicobacter pylori-associated peptic ulcer compared to prevalence in pediatric patients with active or nonactive chronic gastritis.

VacA and CagA serological responses were detected in pediatric patients: 44 and 56%, respectively, in peptic ulcer (PU) patients, 33.3 and 44.4% in active chronic gastritis (ACG) patients, and 23.2 and 39.2% in non-ACG patients. Higher seroprevalence to CagA+VacA and to CagA+VacA+35-kDa antigen was found among PU patients. However, a low level of sensitivity and specificity was found for indirect detection of PU patients.

Síndrome de caroli: un caso de comienzo en la infancia y buena evolución / Caroli's syndrome. Report of a case beginning in childhood with favorable evolution

La enfermedad de Caroli es una rara entidad que se incluye entre las malformaciones fibroquísticas de la vía biliar. El patrón ecográfico consiste en dilataciones evidentes de los ductos biliares. Aunque se piensa que es una enfermedad congénita, frecuentemente se manifiesta en adultos jóvenes, y existen pocos casos descritos en niños. Presentamos un caso de un niño de 10 años con síndrome de Caroli (enfermedad de Caroli, fibrosis hepática congénita y poliquistosis renal) con buena evolución (AU)

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[Nutrient and food consumption by ages and gender in school children from the Community of Madrid (CAENPE)]. / Consumo de alimentos y nutrientes por edades y sexo en escolares de la Comunidad de Madrid (CAENPE).

UNLABELLED: The objective of the present work was to know the consume of foodstuffs and nutrients among schoolchildren in the Madrid Autonomous Community and also the relative contribution of each group of foodstuffs to the overall intake of macronutrients. This study had a sectional observational design involving 2,608 children (51% males and 49% females) with ages ranging from 6 to 14 years who were randomly recruited from conglomerate of schools, according to socio-economic status and rural/urban residence. The inquiry on nutrients in 4 non consecutive days was analyzed (2 "24 hour-recall" and 2 "intake recall"). RESULTS: a) the consume of proteins, lipids, and carbohydrates represented 17%, 43% and 40% of the total caloric value, respectively; b) the intake of meats, sausages, sweets, tidbits, and processed products was very high. This fact is in origin of the excessive total and saturated lipid intake; c) there was a scarce intake of vegetables, cereals and potatoes among children of all ages and dairy products in children older than 12 years; d) the intake of legumes, eggs and fruits was appropriate; e) males consumed proportionally higher amounts than females of the following groups of foodstuffs: cereals, sweets and tidbits. The consume of meat, sausages, fish, eggs, potatoes, dry fruits and dairy products was similar in both sexes. Females consumed proportionally more fat foodstuffs, vegetables, fruits, legumes and processed products; f) females consumed a diet with a still higher lipid and protein content than males. These findings can serve as a basis to develop educational guidelines with a practical impact on family and school menus.

Increased serum beta2-microglobulin levels in active celiac disease.

Sixty-eight sera from 36 children with celiac disease (CD) were collected in a 4-year study, and the levels of beta2-microglobulin (beta2M), orosomucoid, alpha1-antitrypsin, and C-reactive protein (CRP) were measured. A simultaneous intestinal biopsy was taken in all the patients and used to classify them. The values of beta2M were 1.94 +/- 0.49 mg/L in group A (inactive CD with normal intestinal biopsy) and 2.58 +/- 0.76 mg/L in group B (active CD with flat mucosa). These levels were higher than in the normal controls (1.87 +/- 0.49 mg/L, p less than 0.005) and in the other 19 patients with chronic diarrhea of another cause (1.72 +/- 0.63 mg/L, p less than 0.005). CRP values were generally normal; orosomucoid and alpha1-antitrypsin were variable and they did not correlate with beta2M levels. Beta2M was increased at the time of diagnosis in seven of eight (87.5%) of the CD children and only in three of 19 (15.7%) of nonceliac patients with chronic diarrhea of another cause (p less than 0.005). In 12 children with CD, serial studies were possible. The highest beta2M level coincided with a flat mucosa in 10 cases. The increase of beta2M could be related to the intestinal infiltration or even to the lymphocyte activation. It may also be a useful noninvasive method for evaluating the activity of CD.

[Current treatment and prevention of juvenile gastroenteritis]. / Actualización del tratamiento y prevención de la gastroenteritis infantil.

The present knowledges about the damage mechanisms of germs in infectious diarrhea, on which are based the therapy procedures are reviewed. The management consist in oral rehydratation and precocius oral feeding as the main therapy. A scheme of treatment and the future perspectives in Valladolid during the last 9 months (609 fecal cultures) is reported. The participation of isolated germs in the pathogenesis of diarrhea is discussed. Since the acquisition of new methods to detect compylobacter, yersinia and rotavirus, the number of positive fecal cultures has increased in our medium.

[Efficacy and failure of phenobarbital in the prevention of febrile convulsions. Importance of familial antecedents]. / Eficacia y fracaso del fenobarbital en la prevención de las crisis febriles. Importancia de los antecedentes familiares.

The authors analyze the value of phenobarbital for prophylaxis of new convulsions in a group of 370 patients who had previously had febrile seizures. Percentage of recurrences in phenobarbital treated cases (4 +/- 0,6 mg/Kg/d) was 18,67%, versus 55,89% in untreated children (p less than 0.001). The presence of family history of epileptic or febrile seizures is a risk factor (p less than 0.01) that facilitates failure of phenobarbital prophilaxis in future febrile seizures.