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Eur J Hum Genet
December 2024
Leukaemia & Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, 1023, New Zealand.
Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder caused by loss of function variants (LOFVs) in the ephrin B1 (EFNB1) gene located on Xq13.1. In CFNS, unlike in other X-linked disorders, females with heterozygous EFNB1 pathogenic variants (PVs) have a severe phenotype, whereas males carrying hemizygous EFNB1 PVs have a mild phenotype.
View Article and Find Full Text PDF: An interlabial mass in newborn girls is diagnosed usually after birth or during the first days or weeks of life. According to various studies, its prevalence ranges between 1 : 500 and 1 : 7,000 newborn girls. A mass in the vaginal introitus or between the labia majora can cause a diagnostic dilemma and may be suspected even of ambiguous genitalia.
View Article and Find Full Text PDFCurr Alzheimer Res
June 2023
Division of Neuroscience and Ageing Biology, CSIR-Central Drug Research Institute, Lucknow 226031, U.P., India.
Aims: Caffeine possesses potent antioxidant, anti-inflammatory and anti-apoptotic activities against a variety of neurodegenerative diseases, including Alzheimer's disease (AD) and Parkinson's disease (PD). The goal of this study was to investigate the protective role of a psychoactive substance like caffeine on hippocampal neurogenesis and memory functions in streptozotocin (STZ)-induced neurodegeneration in rats.
Background: Caffeine is a natural CNS stimulant, belonging to the methylxanthine class, and is a widely consumed psychoactive substance.
Pediatr Dev Pathol
December 2023
University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA.
Cysts encountered in the head and neck typically arise from epithelium that would normally be programmed to form teeth or tooth-supporting structures (odontogenic epithelium). These cysts come with a confusing array of similar-sounding names and histopathologic features that are sometimes shared between conditions. Here we describe and contrast the relatively-common lesions: hyperplastic dental follicle, dentigerous cyst, radicular cyst, buccal bifurcation cyst, odontogenic keratocyst, glandular odontogenic cyst, and the less-common gingival cyst of the new-born and thyroglossal duct cyst.
View Article and Find Full Text PDFPLoS One
December 2022
Department of Public Health and Mortality Studies, International Institute for Population Sciences, Mumbai, India.
Introduction: The continuum of care (CoC) throughout pregnancy, delivery and post-delivery has recently been highlighted as an integrated intervention programme for maternal, new-born, and child health. Existing literature suggests the importance of continuum of care (CoC) for improved maternal and child health outcomes. However due to unavailability of data at the lowest administrative levels, literature on spatial pattern of uptake of full CoC is lacking.
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