Ascitis quilosa y síndrome de maltrato infantil

La ascitis quilosa (AQ) es una entidad rara asociada a patología del sistema linfático. El primer caso pediátrico fue reportado por Morton en 1.683 en un paciente con tuberculosis. Puede producirse por una malformación linfática congénita, una obstrucción o trauma. La etiología traumática, incluido el síndrome de maltrato infantil (SMI) representa alrededor del 20% (2). Se debe a la disrupción de los linfáticos mesentéricos con acumulación de fluído quiloso en la cavidad peritoneal. Su manejo es controvertido en razón de la experiencia limitada. En éste artículo presentamos un niño con AQ y antecedentes de maltrato que evolucionó favorablemente con soporte nutricional parenteral asociado a octreotido de somatostatina

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development

Anthroponotic transmission of Cryptosporidium parvum predominates in countries with poorer sanitation - a systematic review and meta-analysis

Background: Globally cryptosporidiosis is one of the commonest causes of mortality in children under 24 months old and may be associated with important longterm health effects. Whilst most strains of Cryptosporidium parvum are zoonotic, C. parvum IIc is almost certainly anthroponotic. The global distribution of this potentially important emerging infection is not clear. Methods: We conducted a systematic review of papers identifying the subtype distribution of C. parvum infections globally. We searched PubMed and Scopus using the following key terms Cryptospor* AND parvum AND (genotyp* OR subtyp* OR gp60). Studies were eligible for inclusion if they had found C. parvum within their human study population and had subtyped some or all of these samples using standard gp60 subtyping. Pooled analyses of the proportion of strains being of the IIc subtype were determined using StatsDirect. Meta-regression analyses were run to determine any association between the relative prevalence of IIc and Gross Domestic Product, proportion of the population with access to improved drinking water and improved sanitation. Results: From an initial 843 studies, 85 were included in further analysis. Cryptosporidium parvum IIc was found in 43 of these 85 studies. Across all studies the pooled estimate of relative prevalence of IIc was 19.0% (95% CI: 12.9–25.9%), but there was substantial heterogeneity. In a meta-regression analysis, the relative proportion of all C. parvum infections being IIc decreased as the percentage of the population with access to improved sanitation increased and was some 3.4 times higher in those studies focussing on HIV-positive indivduals. Conclusions: The anthroponotic C. parvum IIc predominates primarily in lower-income countries with poor sanitation and in HIV-positive individuals. Given the apparent enhanced post-infectious virulence of the other main anthroponotic species of Cryptosporidium (C. hominis), it is important to learn about the impact of this subtype on human health

Anthroponotic transmission of Cryptosporidium parvum predominates in countries with poorer sanitation - a systematic review and meta-analysis

Background: Globally cryptosporidiosis is one of the commonest causes of mortality in children under 24 months old and may be associated with important longterm health effects. Whilst most strains of Cryptosporidium parvum are zoonotic, C. parvum IIc is almost certainly anthroponotic. The global distribution of this potentially important emerging infection is not clear. Methods: We conducted a systematic review of papers identifying the subtype distribution of C. parvum infections globally. We searched PubMed and Scopus using the following key terms Cryptospor* AND parvum AND (genotyp* OR subtyp* OR gp60). Studies were eligible for inclusion if they had found C. parvum within their human study population and had subtyped some or all of these samples using standard gp60 subtyping. Pooled analyses of the proportion of strains being of the IIc subtype were determined using StatsDirect. Meta-regression analyses were run to determine any association between the relative prevalence of IIc and Gross Domestic Product, proportion of the population with access to improved drinking water and improved sanitation. Results: From an initial 843 studies, 85 were included in further analysis. Cryptosporidium parvum IIc was found in 43 of these 85 studies. Across all studies the pooled estimate of relative prevalence of IIc was 19.0% (95% CI: 12.9–25.9%), but there was substantial heterogeneity. In a meta-regression analysis, the relative proportion of all C. parvum infections being IIc decreased as the percentage of the population with access to improved sanitation increased and was some 3.4 times higher in those studies focussing on HIV-positive indivduals. Conclusions: The anthroponotic C. parvum IIc predominates primarily in lower-income countries with poor sanitation and in HIV-positive individuals. Given the apparent enhanced post-infectious virulence of the other main anthroponotic species of Cryptosporidium (C. hominis), it is important to learn about the impact of this subtype on human health

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development

Evaluación del crecimiento de niños con Síndrome de Intestino Corto (SIC) Neonatal Growth assessment of children with neonatal short bowel syndrome (SBS)

Introducción: El SIC es una entidad compleja y de alta morbi-mortalidad. La sobrevida luego de una resección intestinal extensa en la etapa neonatal es mayor al 90%. El soporte nutricional es fundamental en las etapas de mayor crecimiento. Objetivo: Evaluar el crecimiento de niños con SIC neonatal que hayan requerido soporte nutricional los dos primeros años de vida. Material y métodos: Se realizó un estudio retrospectivo sobre pacientes asistidos en el Servicio de Nutrición del Hospital de Niños de La Plata. Se registró: edad gestacional (EG), diagnóstico, longitud del intestino remanente, compromiso hepático, duración de la parenteral (NP) y de la Nutrición enteral (NE) y perfil socioeconómico de los pacientes. La evaluación del crecimiento fue realizada mediante: peso (P), talla (T) a los dos años (Control I) y al último control realizado en el Servicio (Control II), utilizando tablas del NCHS. El peso y la talla fueron expresados en score Z (Z) y % de P/T y relacionados con el requerimiento de SN a largo plazo. Se analizaron los pacientes en tres grupos de acuerdo al requerimiento de SN en el momento del Control II: dependientes de NP, dependientes de NE, y aquellos que no requerían de soporte nutricional (S/S). Resultados: Se incluyeron 18 pacientes. La longitud x del intestino remanente fue: 45 cm (r 10-80 cm.), 11 p (61%) presentaron una longitud Introduction: SBS is a complex entity with high morbimortality. Survival following extent intestinal resection during the neonatal period is higher than 90%. Nutritional support is paramount during the periods of high growth. Objective: To assess growth of children with neonatal SBS neonatal having received during the first two years of life. Material and methods: A retrospective study was done on patients assisted at the Nutrition Department of the Children's Hospital of La Plata. The following parameters were gathered: gestational age (GA), diagnosis, length of the remnant bowel, liver impairment, duration of PN and EN, and socio-economical profile of the patients. Growth ssessment was done by: weight (W), height (H) at two years (Control I), and at the last follow-up visit done at the Department (Control II), using the NCHS tables. Weight and height were expressed as the Z score (Z) and the percentage of W/H, and were related to need of long-term NS. Patients were categorized into three groups according to NS requirement at the time of Control II: PN-dependent, EN-dependent, and those not requiring nutritional support (WOS). Results: Eighteen patients were included. Length of the remnant bowel was: 45 cm. (r 10-80 cm.), length was 90% in both controls. Twenty seven percent of the patients at two years of age, and 33% at the last control showed height < -2 SD. Two patients (11%) died while on PN from liver failure, both with 10 cm of remnant bowel and without VIC. At Control II, 4 patients (22%) remained PN-dependent. Mean length of the remnant bowel in this group was 33 cm (r: 17-50) and mean follow-up duration with PN was 2176 days (r: 750-4380). Six patients (33%) remained EN-dependent at Control II, with a mean intestinal length of 41 cm (r: 20-75) and 2 out of 6 pts. did not have VIC. This group of patients required PN as the initial therapy with a mean duration of 629 days. Follow-up time while on EN was 627 days (r: 210-3010). Six patients (33%) achieved nutritional support independence (WOS) with a mean intestinal length of 60 cm (r: 27-80) after a mean duration of NS of 791 days, being assisted with dietary recommendations and vitamins and minerals supplementation. The group showing the greatest growth impairment was the EN-dependent group since we consider that early withdrawal of PN was decided based on inappropriate socio-environmental conditions. Conclusions: According to the present study, we conclude that is may be possible to achieve a normal growth in children with neonatal SBS under nutritional support and that complications related to this nutritional therapy or difficulties for adequately implementing it at home may affect the final height

Evolución y sobrevida de pacientes pediátricos con Síndrome de Intestino Corto (SIC) Outcome and survival of pediatric Short Bowel Syndrome (SBS)

Introducción: El SIC es la principal causa de insuficiencia intestinal (II) en pediatría y presenta elevada morbimortalidad. Objetivo: Analizar factores relacionados con la evolución y la sobrevida de niños con SIC. Métodos: estudio analítico, descriptivo y retrospectivo. Se incluyeron niños con longitud de intestino remanente (LIR) 2 mg/dl) y trombosis. Analizamos sobrevida por Kaplan Meier. Resultados: Incluimos 63 pacientes: LIR x 21 &plusmn 11 cm, 46% colon preservado, 41% prematuros, 78% resección neonatal, duración de II x 0,66 años. 54% presentaban colestasis (BbD x 5.29 &plusmn; 2,35 mg/dl) y 25% trombosis. F 33%, A 27%, D 30% y Tx 9%. Los adaptados tuvieron mayor LIR (p 0.001) y colon preservado (p 0,017) Sobrevida al año 86%, 2 años 70%, 3 años 66%. La muerte x 2,3 años. Causas de muerte: fallo hepático 62%, falta de accesos venosos 19%, sepsis 10%, otras 10%. Factores relacionados con el fallecimiento: menor LIR (p 0.045), colestasis (p 0,049), ingreso al centro antes del año 2000 (p 0,02) Conclusiones: El SIC tuvo una elevada mortalidad, 1/3 de los pacientes se adaptó requiriendo hasta 5 años de NP. La adaptación se relacionó con factores anatómicos. La mortalidad se relacionó con Introduction: SBS is the main cause of intestinal failure (IF) in children and has a high morbility and mortality. Objectives: to analyze factors associated with the outcome and survival of SBS children. Methods: analytical, descriptive and retrospective study. We include patients with residual bowel length (RBL) 2 mg/dl) and thrombosis. Survival is analyzed with Kaplan Meier. Results: 63 patients were included: RBL x 21 &plusmn; 11 cm, preserved colon 46%, prematures 41%, neonatal resection 78%, duration of IF x 0.66 years. 54% had cholestasis (CB x 5.29 &plusmn; 2.35 mg/dl) and 25% had thrombosis. Outcome: D 33%, A 27%, PND 30% and Tx 10%. Adapted patients had longer RBL (p 0.001) and more preserved colon (p 0.017). 1 year survival was 86%, 2 years 70% and 3 years 66%. Age at death: x 2.3 years. Causes of death: hepatic failure 62%, lack of venous access 19%, sepsis 10%, others 10%. Factors related to death were shorter RBL (p 0.045), cholestasis (0.049, admittance to the center before 2000 (p 0.02). Conclusions: SBS had a high mortality and 1/3 of patients could adapt requiring up to 5 years. Adaptation was in relation to anatomic factors. Mortality was related to