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Risk factors of the appearance of anencephaly in Tunisia.
Tunis Med
January 2025
Department of embryo-fetopathology, La Rabta Maternity and Neonatology Center, El Manar II University, 1007 Tunis, Tunisia.
Introduction: Anencephaly is a serious developmental defect of the central nervous system in which the brain and cranial vault are grossly malformed. The cerebrum and cerebellum are reduced or absent, but the hindbrain is present. Anencephaly is a part of the neural tube defect spectrum.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFAmbiance as a Key for a Better Birth Experience.
Stud Health Technol Inform
November 2024
University of Carthage, National School of Architecture and Urbanism ENAU, Heritage and Architecturology Research Laboratory LarPA.
This research provides insights into childbirth as a sensitive experience, from the perspective of its user, "woman in labour," as well as from the perspective of the event itself, "the childbirth," and the birth space, with its spatial and ambiantal configurations. By adopting an in-situ approach, we conducted a spatial and ambiantal characterization of two childbirth different contexts; Tunis and Grenoble. Along this work, we used various methods such as ethnographic observation and semistructured interviews with mothers and midwives, when following visits to the birth spaces in Grenoble.
View Article and Find Full Text PDFStatus Epilepticus in Children: Risk Factors and Clinical Evaluation.
Tunis Med
November 2024
Pediatrics and Neonatology department, Yasminette Ben Arous. University El Manar, Faculty of Medecine of Tunis, Tunisia.
Article Synopsis
- This study focused on identifying factors linked to status epilepticus (SE) in children after their first convulsive seizure, as SE can be a life-threatening condition.
- Out of 300 patients analyzed, a significant percentage experienced generalized seizures, with a notable occurrence of SE in almost a third of cases and various neurological abnormalities detected through EEG and MRI.
- Key risk factors for SE recurrence included being under 1 year old, having neuromotor delays, and abnormalities in EEG and MRI, while simple febrile seizures appeared to reduce the risk.
Analysis of Wilms Tumour Epidemiology, Clinicopathological Features and Treatment Outcomes in 84 Moroccan Patients.
Cancer Rep (Hoboken)
November 2024
Neuroscience and Neurogenetics Research Team (ERNN), Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.
Background: Wilms tumour (WT), the second most reported childhood cancer in Morocco, is a malignant kidney tumour that affects children under 15 years old. Prognosis has improved with the adoption of multimodal treatment. However, data on WT in Morocco remain limited.
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