Practices for respecting the newborn's sleep-wake cycle: Interventional study in the neonatal intensive care unit.

Objectives: Premature newborns are exposed to a great deal of over-stimulation, which can affect their cerebral development. For better sleep, certain practices should be recommended. The aim of this study was to evaluate the effect of a professional training program on the improvement of practices promoting respect for the newborn's sleep-wake cycle.

Developmentally supportive care in neonatology: Correlational study of the knowledge and declared practices of professionals.

•Developmental Care contributes to improving the quality of neonatal life.•Professionals must develop multidisciplinary approaches to clinical practice.•This research identified a low level of knowledge and practice in Developmental Care.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.

Methods: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF.

Percutaneous coarctation dilatation under transthoracic echocardiography guidance solely without fluoroscopy in neonate intensive care.

Introduction: Neonatal coarctation has to be diagnosed and treated urgently. Actually, the surgical treatment is the main option. The coarctation dilatation is usually achieved under fluoroscopy guidance whenever indicated.

Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.

Objective: Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study aims to carry out, for the first time, the GATA4 mutation screening in a Moroccan population affected by ASD and compare the obtained mutation rate across populations.

Anomalous origin of left pulmonary artery from the ascending aorta: echocardiography assessment.

Anomalous origin of one pulmonary artery from the ascending aorta is a rare cardiac anomaly in which the pulmonary artery abnormally arises from the ascending aorta. Physiologically, most patients develop signs of cardiac failure due to high flow to both lungs. The purpose of this study is to demonstrate, with this rare anomaly, the accurate place of the echocardiography to establish diagnosis especially in the systemic or supra-systemic pulmonary hypertension.

GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot.

Background: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD) with an incidence of 1/3600 live births. This disorder was associated with mutations in the transcription factors involved in cardiogenesis, like Nk2 homeobox5 (NKX2-5), GATA binding protein4 (GATA4) and T-BOX1 (TBX1). GATA4 contributes particularly to heart looping and differentiation of the second heart field.

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).

Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect.

Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.

Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was , followed by , , , , , , and , and recently , , and , among others.

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

Objective: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes.

What prognosis for Ebstein's anomaly without surgery? Hassan II teaching hospital experience.

Background From the first description in 1886, significant progress was made on the treatment of Ebstein disease by mono and bi-ventricular surgery. Aim To highlight the prognosis of Ebstein's anomaly in the pediatric department of Hassan II hospital in Fez. Methods This is a descriptive and retrospective study of 4 years.

Pediatric recurrent respiratory tract infections: when and how to explore the immune system? (About 53 cases).

Recurrent respiratory tract infections are one of the most frequent reasons for pediatric visits and hospitalization. Causes of this pathology are multiple ranging from congenital to acquired and local to general. Immune deficiencies are considered as underlying conditions predisposing to this pathology.

The first PTPN1 1 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.

Background/aim: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000-2500. It results from protein-tyrosine phosphatase, nonreceptor type 11 (PTPN11) mutations in roughly 50% of cases. Mutational screening of PTPN11 has been carried out in different populations.

Cutis Laxa syndrome: a case report.

Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…).

Multicentric Castleman's Disease in a Child Revealed by Chronic Diarrhea.

Multicentric Castleman's disease is a rare benign and unexplained lymphoproliferative disorder that is extremely uncommon in children. It presents with fever, systemic symptoms, generalized lymphadenopathy, and laboratory markers of inflammation. Its treatment is not standardized and its prognosis is poor.

Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) induced by carbamazepine: a case report and literature review.

Drug-induced hypersensitivity or Drug Reaction with Eosinophilia and Systemic Symptom (DRESS) is a severe adverse drug-induced reaction. Diagnosing DRESS is challenging due to the diversity of cutaneous eruption and organs involved. Most of the aromatic anticonvulsants, such as phenytoin, phenobarbital, and carbamazepine, can induce DRESS.

Gelastic seizures and fever originating from a parietal cortical dysplasia.

Gelastic seizures (GS) is an uncommon seizure type characterized by sudden inappropriate attacks of uncontrolled and unmotivated laugh and its diagnostic criteria were elaborated by Gascon. These criteria included stereotypical recurrence of laugh, which is unjustified by the context, associated signs compatible with seizure, and ictal or interictal abnormalities. GS can be cryptogenic or symptomatic of a variety of cerebral lesions, the most common being hypothalamic hamartoma.