(IJRE) International Journal of Research and Ethics (ISSN 2665-7481)

Epilepsy in a Moroccan patient with Pitt-Hopkins syndrome

Fatima Maarouf — 2024-10-09

Background : Pitt-Hopkins syndrome (PTHS) is a heterogeneous neurodevelopmental disorder, characterized by intellectual disability, distinctive facial features, and significant autonomic nervous system dysfunction. It is caused by variants in the transcription factor Tcf4. Methods/Observation : We report the first case of PTHS in Morocco, involving a 3-
year-old child who presents with the typical features of PTHS, recurrent epilepsy, and a posterior fossa malformation consistent with Dandy-Walker syndrome, along with complete agenesis of the corpus callosum. Standard karyotype analysis and CGH-array confirmed the diagnosis, revealing a de novo terminal deletion of 27.894 kb on the long arm of chromosome 18. High-throughput sequencing is currently underway. Conclusion : Once PTHS is clinically suspected, the diagnosis should be confirmed through molecular genetic testing of the Tcf4 gene.

Keywords : Pitt-Hopkins Syndrome, 18q deletion, Tcf4, de Novo, epilepsy.

Fanconi anemia diagnosed by genetic testing

Fatima Maarouf — 2024-10-09

Background : Fanconi anemia (FA) is a rare genetic disorder inherited in an autosomal recessive manner. The clinical phenotype varies depending on the involvement of different genes. Major physical abnormalities mainly affect the limbs and spine.. Methods/Observation : We report the case of an 11-year-old girl from a first-degree consanguineous marriage. The classic triad of short stature, malformation syndrome and early bone marrow failure suggested AF, which was confirmed by the detection of significant chromosomal instability after culture with Mitomycin C, compared with a normal control. Conclusion : This case highlights the crucial role of cytogenetics in the diagnosis of Fanconi anemia and genetic counseling to improve the management of affected children and their families.

Keywords : Fanconi anemia; chromosomal breaks; mitomycin C.

Next-generation technology in epilepsy diagnostic: First Moroccan pediatric case series and literature review.

Wafaa Bouzroud — 2024-10-15

Background: Pediatric epilepsy is the most prevalent neurological disorder among children, characterized by significant heterogeneity in terms of etiology, clinical presentation, and prognosis. In developed countries, genetic testing, particularly next-generation sequencing (NGS), has become standard practice for diagnosis. Methods/Observation: This paper presents the first pediatric Moroccan case series with epilepsy. The diagnosis was established using whole-exome sequencing which identified five variants. Moreover, we evaluated the effectiveness of different NGS technologies in epilepsy diagnosis by conducting a PubMed search with targeted keywords. Results: Whole-exome sequencing and whole-genome sequencing are more effective for epilepsy diagnosis than multi-gene panels. However, they also present significant challenges including false negatives and variants of unknown significance which complicate genetic interpretation and diagnostic process. Conclusion: Despite these limitations, the rapid accumulation of genetic data and advancements in bioinformatic tools are expected to address these issues, improving diagnostic accuracy.

Keywords: Epilepsy, Next-generation sequencing, Neuropediatry, Genetics, Morocco.

Environmental concern over evaporation ponds used to store wastewater

Abdeljalil Adam — 2024-11-04

Background: Numerous renewable energy facilities use evaporation ponds as the ultimate method of disposing of their wastewater. Several studies focusing on environmental impacts and considerations have endorsed this approach as a means of preventing the direct discharge of industrial wastewater into surface water bodies, thereby mitigating water pollution. However, adopting this solution could pose significant environmental and ecological challenges. Recently, there has been an increase in the construction of solar power plants, the majority of which use evaporation ponds to store wastewater. This practice can potentially create serious ecological problems. Therefore, this review recommends adopting a sustainable approach to wastewater recycling to mitigate these environmental concerns. Methods: Extensive database searches were performed. The selection of articles was carried out according to the type of study. Results: Birds attracted to evaporation ponds are sensitive and vulnerable to outdoor environments; Therefore, they could be used to estimate the negative effects of environmental pollution and the health effects on people working nearby. Conclusion: The results focus on the development of alternative solutions associated with the use of evaporation ponds as a means of wastewater disposal, particularly on these drawbacks in the context of environmental and ecological considerations.

Keywords: Evaporation Pond, wastewater, ecological challenges, environmental impact, health impact.