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Timbolschi D.,Service de genetique medicale | Schaefer E.,Service de genetique medicale | Schaefer E.,University of Strasbourg | Monga B.,University of Strasbourg | And 17 more authors.
Fetal Diagnosis and Therapy

Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis. © 2014 S. Karger AG, Basel. Source

Oulahiane A.,Sina | Elhaddad N.,Sina | Ouleghzal H.,Service dendocrinologie | Gaouzi A.,Service de Pediatrie II
Archives de Pediatrie

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder. © 2011. Source

Boubal M.,Service de Pediatrie II | Jacquot A.,Service de Pediatrie II | Baud C.,Service de Radiologie Pediatrique | Allal H.,Service de chirurgie viscerale pediatrique | And 2 more authors.
Archives de Pediatrie

We report a case of intussusception in a premature neonate who presented with early signs of upper gastrointestinal tract obstruction. Diagnosing acute intussusception in premature infants is difficult because of its infrequency relative to other neonatal abdominal problems and because the clinical symptomatology shows similarities with that of necrotizing enterocolitis. In the reported case, the diagnosis was made by sonography. Unlike full-term neonates, the presence of a pathological lead point is very infrequent. The intussusception is predominantly located in the small bowel and is most often associated with bowel compromise. This disease should be considered in all neonates with signs of intestinal obstruction to permit a better prognosis via prompt surgical intervention. © 2010 Elsevier Masson SAS. Source

Salimi S.,Service de Pediatrie II | Bouhdadi S.,Service de Pediatrie II | Rachid A.,Service de Pediatrie II | Atlas R.,Service de Pediatrie II | Dehbi F.,Service de Pediatrie II
Journal de Pediatrie et de Puericulture

The suicidal lines between the child and adolescent represent a public health problem. This is the second cause of mortality in France in male subjects in the 15-25 years after the accidents and third cause in female subjects. Suicide attempts in childhood are rare and infrequently reported excusive in Morocco. Objectives: The aim of this study was to evaluate the risk factors of suicide attempts of children. Methods: It is a retrospective, descriptive study of 43 patients aged less or equal to 14 years of the department of child of Ibn Rochd Hospital Abderrahim Harouchi in Casablanca, who attempted suicide in the period from January 2009 through December 2011. Results: The family conflict (34.14%) and the school failure (24.34%) were the factors that trigger the most frequent. The drug intoxication was the most used method in 87.8%. Seventeen percent of the children had a behavioral disorder. No particular symptomatology has been found among our patients (58.53%). Conclusion: The prevention remains the only effective mean to avoid the transition to the suicidal act. © 2012 Elsevier Masson SAS. All rights reserved. Source

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