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Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.
Taiwan J Ophthalmol
December 2024
Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
The aim of this study is to describe genotype and phenotype of patients with bestrophinopathy. The case records were reviewed retrospectively, findings of multimodal imaging such as color fundus photograph, optical coherence tomography (OCT), fundus autofluorescence, electrophysiological, and genetic tests were noted. Twelve eyes of six patients from distinct Indian families with molecular diagnosis were enrolled.
View Article and Find Full Text PDFCurvilinear incidence models for parity in the entire fertility range for cancers of the breast, ovary, and endometrium: A follow-up of the Norwegian 1960 Census.
Int J Cancer
January 2025
Administration, Norwegian Computing Center, Oslo, Norway.
The protective effect of parity has been demonstrated for cancer of the breast, ovary, and endometrium but no studies have estimated the effect of each subsequent birth in women with 10 or more children or grand-grand parity women, nor compared the linear relationship of the three cancers sites. Here, we aim to explore these relationships based on the Norwegian 1960 Census. The question of parity in present marriage was answered by 385,816 women born 1870-1915, a period with high fertility.
View Article and Find Full Text PDFNationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.
Hum Genomics
December 2024
Genetic Medicine Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Background: Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and national economy due to costly long-term care. Earlier studies highlighted the significantly limited awareness of the higher prevalence of genetic disease due to consanguinity even among the educated Arabs. In Saudi Arabia, more than 50% of marriages are between first cousins.
View Article and Find Full Text PDFComparative assessment of Chlamydia trachomatis pathogen prevalence, and the determination of host gyneco-epidemiological and immunological associated risk factors in female infertility.
Cytokine
January 2025
Department of Neuroscience and Cell Biology, Robert Wood John Medical School, Rutgers, State University of New Jersey, United States.
This study investigates the immunopathological responses to Chlamydia trachomatis (Ct) heat shock protein (Ct-Hsp) and their association with infertility. The objective was to explore the prevalence of anti-Ct antibodies and the gyneco-epidemiological risk factors for infertility among women attending a fertility clinic in Zaria, Nigeria, and to analyze the host immune cytokine or Ct-antigen levels in Ct-positive samples for correlation. From December 2022 to January 2024, 215 women (109 infertile and 106 fertile) from Ahmadu Bello University Teaching Hospital participated in this study.
View Article and Find Full Text PDFGiant axonal neuropathy: a rare inherited neuropathy with a novel mutation.
Neurogenetics
November 2024
Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running.
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