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Iniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.
Cureus
December 2024
Gynecology and Obstetrics Department, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, PRT.
Iniencephaly is a rare malformation of the base of the cranium, with an almost always fatal prognosis. This condition is part of the category of defects related to neural tube closure. Prenatal diagnosis can now be performed through ultrasound evaluation, allowing timely counseling.
View Article and Find Full Text PDFRegulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFBayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.
PLoS One
January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
View Article and Find Full Text PDFPost-operative gigantic lumbar pseudomeningocele: A case report.
Folia Med (Plovdiv)
December 2024
University Hospital of Patras, Patras, Greece.
Postoperative pseudomeningocele is a rare, but still existing, complication after spinal surgeries. It may be asymptomatic or presented with back pain, radicular pain or headaches. Many pseudomeningoceles resolve spontaneously, others require revision surgery with dural repair.
View Article and Find Full Text PDFAssessment of awareness, knowledge, and usage of folic acid among females in Jazan Region, Saudi Arabia.
Afr J Reprod Health
December 2024
Department of Medical Laboratory Technology, College of Nursing and Health Sciences, Jazan University, Jazan, Saudi Arabia.
Folic acid (FA) plays a crucial role in various biological processes. Insufficient intake of FA during pregnancy can lead to serious clinical complications, including neural tube defect. The current study sought to assess the awareness, knowledge, and usage of FA among young females in Jazan region of Saudi Arabia.
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