Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations.

Background: Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.

Methods: As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.

Different Fecal Microbiota in Hirschsprung's Patients With and Without Associated Enterocolitis.

Background And Objectives: Patients with Hirschsprung's disease are at risk of developing Hirschsprung-associated enterocolitis, especially in the first 2 years of life. The pathophysiology of this inflammatory disease remains unclear, and intestinal dysbiosis has been proposed in the last decade. The primary objective of this study was to evaluate in a large cohort if Hirschsprung-associated enterocolitis was associated with alterations of fecal bacterial composition compared with HD without enterocolitis in different age groups.

COVID-19 in Europe: Dataset at a sub-national level.

The COVID-19 pandemic has hit humanity, straining health care systems, economies, and governments worldwide. In one of the responses to the pandemic, a big global effort has been mounted to collect, analyze, and make data publicly available. However, many of the existing COVID-19 public datasets are (i) aggregated at country level, and (ii) tend not to bring the COVID-19-specific data coupled with socio-demographic, economic, public policy, health, pollution and environmental factors, all of which may be key elements to study the transmission of the SARS-CoV-2 and its severity.

Analysis of enteric nervous system and intestinal epithelial barrier to predict complications in Hirschsprung's disease.

In Hirschsprung's disease (HSCR), postoperative course remains unpredictable. Our aim was to define predictive factors of the main postoperative complications: obstructive symptoms (OS) and Hirschsprung-associated enterocolitis (HAEC). In this prospective multicentre cohort study, samples of resected bowel were collected at time of surgery in 18 neonates with short-segment HSCR in tertiary care hospitals.

Spatio-temporal data on the air pollutant nitrogen dioxide derived from Sentinel satellite for France.

Monitoring of air pollution is an important task in public health. Availability of data is often hindered by the paucity of the ground monitoring station network. We present here a new spatio-temporal dataset collected and processed from the Sentinel 5P remote sensing platform.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs.

Tunica vaginalis flap for urethrocutaneous fistula repair after proximal and mid-shaft hypospadias surgery: A 12-year experience.

Introduction: Fistulas are a common complication of hypospadias surgery; they are more frequent after mid-shaft and posterior hypospadias repair. Surgical treatment of fistula still remains challenging with a significant failure rate. The basic principle is to add layers between skin and neourethra in order to decrease the incidence of recurrent urethrocutaneous fistula (UCF).

A suite of global, cross-scale topographic variables for environmental and biodiversity modeling.

Topographic variation underpins a myriad of patterns and processes in hydrology, climatology, geography and ecology and is key to understanding the variation of life on the planet. A fully standardized and global multivariate product of different terrain features has the potential to support many large-scale research applications, however to date, such datasets are unavailable. Here we used the digital elevation model products of global 250 m GMTED2010 and near-global 90 m SRTM4.

Position Paper of INoEA Working Group on Long-Gap Esophageal Atresia: For Better Care.

INoEA is the International Network of Esophageal Atresia and consists of a broad spectrum of pediatric specialties and patient societies. The working group on long-gap esophageal atresia (LGEA) set out to develop guidelines regarding the definition of LGEA, the best diagnostic and treatment strategies, and highlight the necessity of experience and communication in the management of these challenging patients. Review of the literature and expert discussion concluded that LGEA should be defined as any esophageal atresia (EA) that has no intra-abdominal air, realizing that this defines EA with no distal tracheoesophageal fistula (TEF).

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.

Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.

Laparoscopic management of congenital duodenal atresia or stenosis: A single-center early experience.

Background: The background is to review our experience with laparoscopic repair of congenital duodenal atresia or stenosis (CDAS) and compare postoperative outcome with a group control of laparotomy repair.

Methods: Retrospective chart review of all cases of CDAS undergoing laparoscopic surgery at our institution between July 2013 and May 2014 and comparison with a group control of open operation performed between 2007 and 2010. Data were compared using Fisher's exact test for qualitative values and Mann-Whitney test for quantitative values.

Failure of First-Line Antibiotics in Nonoperative Management of Appendiceal Mass, toward a Second-Line Instead of Surgery?

Background Conservative approach for complicated appendicitis has been gradually adopted in children to decrease postoperative morbidity. The first aim of this study was to assess the efficacy of a second-line antibiotics enlarged on Pseudomonas aeruginosa and Enterococcus in case of poor clinical outcome after initial conservative approach for appendiceal mass and abscess. The second aim of this study was to identify predictive factors of failure of first-line antibiotics.

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype-phenotype correlations are not well established. We report on the clinical, cytogenetic and molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25.1 to 3q25.

Mucinous cystadenoma arising 3 years after ovarian-sparing surgery for mature teratoma in a child.

We report the case of a 15-year-old girl diagnosed with mucinous cystadenoma 3 years after ovarian-sparing surgery for a mature teratoma located in the same ovary. Ovarian teratoma is the most common ovarian neoplasm in children, whereas mucinous cystadenoma is extremely rare during childhood.

[Severe thrombopenia as single sign of hemophagocytosis in a patient with cirrhosis and lethal infection of ascitis fluid by Escherichia coli].

Hemophagocytosis is defined by a systemic macrophages activation, phagocyting the blood elements. This syndrome can be primary or secondary to multiple causes such as neoplasia or infections. We report here the first case of a hemophagocytosis caused by an Escherichia coli infection of ascitis fluid.

A rare case of de novo distal 19q trisomy prenatally diagnosed.

We present a case of de novo trisomy of distal 19q diagnosed prenatally by cytogenetics and FISH analysis. The autopsy performed after termination of the pregnancy showed major internal and external malformations that are associated with this chromosome abnormality.