[This corrects the article DOI: 10.1371/journal.ppat.1005917.].
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http://dx.doi.org/10.1371/journal.ppat.1006128 | DOI Listing |
Indian J Ophthalmol
December 2024
Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.
Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.
Design: Retrospective observational study.
Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.
Int J Neonatal Screen
November 2024
Laboratoire de Biologie Médicale Multi-Sites (LBMMS), Service de Biochimie et Biologie Moléculaire Grand Est, Hospices Civils de Lyon, 69500 Bron, France.
In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.
View Article and Find Full Text PDFFront Neurosci
December 2024
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Background: Extracellular vesicles are easily accessible in various biofluids and allow the assessment of disease-related changes in the proteome. This has made them a promising target for biomarker studies, especially in the field of neurodegeneration where access to diseased tissue is very limited. Genetic variants in the LRRK2 gene have been linked to both familial and sporadic forms of Parkinson's disease.
View Article and Find Full Text PDFJ Affect Disord
December 2024
Department of Sleep and Psychology, Chongqing Health Center for Women and Children, Chongqing 401147, China; Department of Sleep and Psychology, Women and Children's Hospital of Chongqing Medical University, 401147, China. Electronic address:
Background: Maternal smoking around birth (MSAB) and early-life breastfeeding (BAB) represent critical factors that may exert enduring effects on neuropsychiatric health. Although previous research has examined these exposures separately, the combined impact of both on disorders such as ADHD, ASD, BD, MDD, ANX, and SCZ remains unclear. This study aims to evaluate the causal relationships between MSAB and BAB and the risk of developing these neuropsychiatric disorders through Mendelian randomization (MR) analysis.
View Article and Find Full Text PDFMol Cancer
December 2024
Jiangsu Key Laboratory of Bioactive Natural Product Research and State Key Laboratory of Natural Medicines, School of Traditional Chinese Pharmacy, China Pharmaceutical University, 24 Tong Jia Xiang, Nanjing, 210009, China.
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