Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

Genetic causes of rare and common epilepsies: What should the epileptologist know?

In past decades, the identification of genes involved in epileptic disorders has grown exponentially. The pace of gene identification in epileptic disorders began to accelerate in the late 2000s, driven by new technologies such as molecular cytogenetics and next-generation sequencing (NGS). These technologies have also been applied to genetic diagnostics, with different configurations, such as gene panels, whole-exome sequencing and whole-genome sequencing.

DNA methylation episignature in Gabriele-de Vries syndrome.

Purpose: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to better understand the molecular basis of the syndrome, we analyzed clinical data and performed genome-wide DNA methylation analysis of a series of individuals carrying a YY1 variant.

Methods: Clinical data were collected for 13 individuals not yet reported through an international call for collaboration.

A new genetic variant causing auditory neuropathy: A CARE case report.

Introduction: Auditory neuropathy refers to impaired synchronization of the auditory signal along the cochlear nerve. The present study, following CARE case report guidelines, describes a case of auditory neuropathy secondary to a genetic variant not previously described.

Observation: An 18-year-old patient was followed for multiple learning disorder.

[Severe allergic reaction due to a rectal enema].

Allergic drug reactions must always be considered when prescribing treatment, even in frequent pediatric problems such as acute abdominal pain due to constipation. We describe an original case of anaphylactic shock due to the administration of hypertonic rectal enema in a child. A 9-year-old child admitted to the emergency department for an acute complaint of abdominal pain related to constipation received an administration of a hypertonic rectal enema to allow the passage of stools.

[Ventricular fibrillation following deodorant spray inhalation].

We report one case of out-of-hospital cardiac arrest with ventricular fibrillation following butane poisoning after inhalation of antiperspiration aerosol. An early management using semi-automatic defibrillator explained the success of the resuscitation. The mechanism of butane toxicity could be an increased sensitivity of cardiac receptors to circulating catecholamines, responsible for cardiac arrest during exercise and for resuscitation difficulties.

[Management of paediatric fever: is parents' skill appropriate?].

Unlabelled: Paediatric fever is a frequent reason of consulting a paediatrician or a general practitioner (30% of paediatric consultations).

Aim Of The Study: This investigation aimed at reporting the knowledge level concerning child's and infant's fever in a urban population and the resulting practices. Two thousand and six hundred questionnaires were distributed in June 2004 in the 29 scholar institutions of Metz agglomeration (France) classified in 3 categories according to socio-economical conditions of parents: 3 institutions of city centre (high socioeconomical conditions), 18 sub-urban institutions (intermediary conditions) and 8 institutions located in priority education zones (ZEP) (defavorable conditions).

[Complications of prostaglandin E1 treatment of congenital heart disease in paediatric medical intensive care].

The authors undertook a retrospective study of the modes of prescription, the tolerance and efficacy of prostaglandin E1 in 62 consecutive neonates with congenital heart disease (average Age 1.6 days: 35 boys: weight: 3.1 +/- 0.

[Paediatric cardiac surgery and autoevaluation: risk score, complexity score and graphic analysis].

The creation of a paediatric surgical unit requires autoevaluation in order to: assess the quality of the results with respect to recognised international standards, answer the family's questions about the results obtained and adhere to criteria of accreditation Between January 2003 and December 2004, 201 consecutive patients, children (N= 164) or operated for adult congenital heart disease (N= 37) were treated. No patient was excluded. The RACHS-1 risk score, the ARISTOTLE scores of complexity and performance and the CUSUM and VLAD graphic analyses were applied to the study of hospital mortality.

[Kawasaki disease in newborns and infants: refractory forms to immunoglobulin therapy].

Unlabelled: We studied 52 consecutive patients with Kawasaki disease hospitalized (1984 -2003) during the acute phase (mean age 2.5 + 2.4 years; range 0.

[Domiciliary assisted ventilation in children].

The concept of assisted ventilation in the home setting has greatly progressed as a routine practice. This technique was used from 1990 to 2000 in 16 children cared for at our center. Ten children had neuromuscular disease (infantile spinal amyotrophy 6, Duchenne myopathy 3, and mitochondrial myopathy 1) or other conditions including central hypoventilation (n = 2), traumatic tetraplegia (n = 2), encephalopathy with chronic bronchitis (n = 1) and bronchopulmonary dysplasia (n = 1).

Methacholine-induced volume dependence of respiratory resistance in preschool children.

Enhanced negative volume dependence of airway resistance is associated with bronchoconstriction in tracheostomized paralysed open-chest animals. Significant upper airways responses may be associated with bronchoconstriction and could thereby alter the pattern of volume dependence in spontaneously breathing subjects. The aim of the study was to test whether volume dependence of respiratory resistance (Rrs) could be demonstrated in preschool children undergoing routine methacholine challenge.

Effect of increased brain GABA concentrations on breathing in unanesthetized newborn rabbits.

Evidence suggests that gamma-aminobutyric acid (GABA) is involved in control of breathing and in the hypoxia-related ventilatory depression in newborns. However, this evidence is obtained mainly from studies on anesthetized animals. Because anesthesia may interfere with the GABA system, the objectives of our study were to examine effects of GABA on ventilation (V(E)) and ventilatory response to hypoxia and to reveal effects of repeated hypoxia on GABA concentrations in unanesthetized newborns.