Publications by authors named "S E Chehadeh"
Article Synopsis
- - The study compares genotypes between pediatric cardiomyopathy (pCM) and adult-onset cardiomyopathy (aCM) to understand why pCM has earlier onset and differs in severity.
- - Analysis of 253 pCM patients revealed a higher rate of genetic variants, particularly in restrictive pCM, and identified critical risk factors for adverse outcomes such as early diagnosis and presence of multiple variants.
- - Genetic testing not only clarified the genetic basis for pCM but also enhanced genetic counseling for families, resulting in cases of prenatal diagnosis.
Article Synopsis
- Osteoporosis is a skeletal disorder leading to increased fracture risk, and when it affects young individuals, it often indicates genetic causes related to early-onset osteoporosis (EOOP).
- Over 577 patients with primary osteoporosis were studied using next-generation sequencing of 21 bone fragility-related genes, revealing that around 18% had a genetic basis, primarily linked to the LRP5 gene.
- A rare finding included 17 patients with a variant in the PLS3 gene, suggesting the involvement of dominant X-linked osteoporosis, predominantly affecting males, but also identified severe cases in females, pointing toward possible genetic interactions.
Background: Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances.
View Article and Find Full Text PDFBackground: Marfan syndrome (MFS) is a multisystem disease with a unique combination of skeletal, cardiovascular and ocular features. Geleophysic/acromicric dysplasias (GPHYSD/ACMICD), characterised by short stature and extremities, are described as 'the mirror image' of MFS. The numerous pathogenic variants identified in MFS are located all along the gene and lead to the same final pathogenic sequence.
View Article and Find Full Text PDFCentral nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available.
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