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Los Varela, Argentina

Rios-Mendez R.E.,Servicio de Cardiopatias Congenitas en Ninos Y Adultos | Diaz-Beltran L.R.,Servicio de Cardiopatias Congenitas en Ninos Y Adultos | Palazzolo A.G.,Pediatria
Archivos Argentinos de Pediatria

The double-chambered right ventricle is a rare congenital heart disease caused by hypertrophic anomalous muscle bands that divide the ventricular cavity, resulting in the formation of a high-pressure proximal chamber and other low-pressure distal one. Because of its evolving nature, its diagnosis is usually made during adolescence or adulthood. While pediatricians see patients whose age range is well established, currently pediatric cardiologists attend patients with cardiopathies from the fetal stage to adulthood, because they are more familiar with these malformations. We report a series of cases treated with divided right ventricle in a new public hospital (Congenital heart disease Section) of Buenos Aires province. Source

Da Costa A.D.P.V.,Federal University of Pernambuco | Da Costa A.D.P.V.,Institute Medicina Integral Professor Fernando Figueira IMIP | Da Silva G.A.P.,Pediatria | Da Silva G.A.P.,Federal University of Pernambuco
Jornal de Pediatria

Objective: To describe the management of acute diarrhea in emergency departments with emphasis on the type of hydration and exploring factors associated with prescription of oral rehydration therapy vs. intravenous rehydration therapy for children with dehydration that is not severe. Methods: This was a descriptive study conducted from January to May of 2008 observing case management of children with non-severe dehydration due to acute diarrhea at two emergency units (A and B) in Recife, Brazil. Emergency unit B is affiliated to a teaching hospital. The primary variables were: 1) type of hydration prescribed, 2) associations with the characteristics of the children and emergency department (A or B). Results: A total of 166 children took part in the study. The rates of prescription of oral rehydration therapy were similar at both services (32.2 vs. 31.6% for A and B, respectively, p = 0.93) and were lower for cases with moderate dehydration (17.6%) compared with mild dehydration (35.6%) (p = 0.07). Neither service had a dedicated oral rehydration room. Conclusions: Most children were given intravenous rehydration therapy, especially those with moderate dehydration, without differences according type of service: whether a teaching institution or healthcare provider only. Copyright © 2011 by Sociedade Brasileira de Pediatria. Source

Garcia-Nieto V.,Nefrologia Pediatrica | Loris C.,Nefrologia Pediatrica | Ariceta G.,Nefrologia Pediatrica | Nadal I.,Nefrologia Pediatrica | And 11 more authors.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium and calcium excretion and chronic kidney failure. This rare disease is caused by mutations in the CLDN16 and CLDN19 genes. These genes encode the tight junction proteins claudin-16 and claudin-19, respectively, which regulate the paracellular ion reabsortion in the kidney. Patients with mutations in the CLDN19 gene also present severe visual impairment. Our goals in this study were to examine the clinical characteristics of a large cohort of Spanish patients with this disorder and to identify the disease causing mutations. We included a total of 31 patients belonging to 27 unrelated families and studied renal and ocular manifestations. We then analyzed by direct DNA sequencing the coding regions of CLDN16 and CLDN19 genes in these patients. Bioinformatic tools were used to predict the consequences of mutations. Clinical evaluation showed ocular defects in 87% of patients, including mainly myopia, nystagmus and macular colobomata. Twenty two percent of patients underwent renal transplantation and impaired renal function was observed in another 61% of patients. Results of the genetic analysis revealed CLDN19 mutations in all patients confirming the clinical diagnosis. The majority of patients exhibited the previously described p.G20D mutation. Haplotype analysis using three microsatellite markers showed a founder effect for this recurrent mutation in our cohort. We also identified four new pathogenic mutations in CLDN19, p.G122R, p.I41T, p.G75C and p.G75S. A strategy based on microsequencing was designed to facilitate the genetic diagnosis of this disease. Our data indicate that patients with CLDN19 mutations have a high risk of progression to chronic renal disease. © 2013 Claverie-Martin et al. Source

Franco A.C.B.F.,Centro Universitario Lusiada | Torrico A.C.,Centro Universitario Lusiada | Moreira F.T.,Centro Universitario Lusiada | Sa F.P.,Pediatria | And 2 more authors.
Jornal de Pediatria

Objective: To evaluate whether intravenous immunoglobulin reduces mortality and length of hospital stay in the treatment of neonatal sepsis. Sources: The MEDLINE database was searched. The keywords were combined using the following search strategy: [(sepsis OR shock, septic OR infection) AND immunoglobulins, intravenous] AND infant, newborn. Only randomized clinical trials (RCTs) showing good methodological quality and assessing the effect of adjuvant intravenous immunoglobulin in the treatment of neonatal sepsis were selected for inclusion and data analysis. Summary of the findings: Seven RCTs were selected. All of them evaluated the mortality rate, including 3,756 patients. The global effect of this outcome showed no statistically significant difference between the groups. Only five studies evaluated the mean length of hospital stay, including 3,672 patients. Although there is a statistically significant reduction of 1.24 days in the length of hospital stay with the use of intravenous immunoglobulin, such difference is clinically irrelevant and its high cost does not warrant its routine use in medical practice. The data reported in the present review contradict the review by Ohlsson et al., which was updated in 2010 and showed significant benefit with the use of intravenous immunoglobulin on both outcomes. Conclusions: We concluded that the use of adjuvant intravenous immunoglobulin shows no benefit regarding mortality, whereas the reduction in the length of hospital stay is irrelevant. Copyright © by Sociedade Brasileira de Pediatria. Source

This report focuses on a male infant, the first born of non-consanguineous parents diagnosed with polyhydramnios at 26 weeks of gestation. The newborn was admitted during the neonatal period with bleeding diathesis associated with a low platelet count at birth (5×10(9)/l).The authors registered a persistent low platelet count (9000-129 000/l) during the infants 1st year of life. Physical examination revealed a petechial rash, a dysmorphic face and bilateral cryptorchidism, in the absence of organomegaly. Additionally, cardiologic evaluation revealed an aortic valve dysplasia and an atrial septal defect, while bone marrow biopsy and aspiration were found normal. Throughout the investigation, the authors excluded congenital infection, alloimmune and familiar thrombocytopaenia, Fanconi anaemia and thrombocytopaenia absent radius syndrome. The cytogenetic analysis revealed a mutation in the PTPN11 gene associated with Noonan syndrome. Here the author highlights that severe neonatal thrombocytopaenia is a manifestation that should be considered in the diagnosis and clinical management of Noonan's syndrome. Source

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