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Syndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFVariant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Clin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFNovel deletion and nonsense pathogenic variant in Bardet-Biedl syndrome.
Ophthalmic Genet
December 2024
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Background: Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.
View Article and Find Full Text PDFNeonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.
Sex Dev
September 2024
Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Pediatric Urology, São Paulo, Brazil.
Article Synopsis
- - Hydrocolpos is a rare condition where the vagina becomes cystically dilated, often due to issues like an imperforate hymen or vaginal atresia, and can also relate to genetic disorders like Bardet-Biedl syndrome (BBS).
- - A specific case involving neonatal hydrocolpos linked to BBS was studied, revealing a novel mutation in the BBS10 gene, highlighting the need for genetic testing in similar cases.
- - It’s crucial for pediatric urologists to consider genetic conditions like BBS in neonates with hydrocolpos, as these can lead to serious complications like kidney issues and obesity.
Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases.
Cureus
August 2024
Otolaryngology - Head and Neck Surgery, Mahatma Gandhi Medical College and Research Institute, Pondicherry, IND.
Article Synopsis
- - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body and presents unique difficulties, particularly in ear, nose, and throat (ENT) care for affected children.
- - Two sibling cases are discussed: the older child faced complex surgical challenges due to obesity and anatomical issues, while the younger sibling had initial relief from surgery but later experienced recurring health issues related to adenoids, needing long-term monitoring.
- - The report highlights the importance of teamwork among medical professionals in managing the intricate symptoms of BBS and calls for ongoing research to improve treatment strategies for similar cases in the future.
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