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| http://dx.doi.org/10.1136/jnnp.64.6.717 | DOI Listing |
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Data Collection Variability Across Neonatal Hypoxic-Ischemic Encephalopathy Registries.
J Pediatr
January 2025
Department of Pediatrics, McGill University; Montreal Children's Hospital.
Objective: To assess variability among data elements collected among existing neonatal hypoxic-ischemic encephalopathy (HIE) data registries worldwide and to determine the need for future harmonization of standard common data elements.
Study Design: This was a cross-sectional study of data elements collected from current or recently employed HIE registry data forms. Registries were identified by literature search and email inquiries to investigators worldwide.
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFLate Postpartum Eclampsia with Posterior Reversible Encephalopathy Syndrome and Subarachnoid Hemorrhage: A Case Study.
Medicina (Kaunas)
January 2025
Department of Biomedical Sciences, Dubai Medical College for Girls, Dubai 20170, United Arab Emirates.
Eclampsia is a multisystem disorder of pregnancy and the puerperium. Posterior reversible encephalopathy syndrome (PRES), a neurotoxic condition characterized by various neurological symptoms, can arise from multiple causes including eclampsia. Although hemorrhage is a possible complication of PRES, subarachnoid hemorrhage (SAH) is a rare occurrence in eclamptic patients with this condition.
View Article and Find Full Text PDFNovel Role of Pin1-Cis P-Tau-ApoE Axis in the Pathogenesis of Preeclampsia and Its Connection with Dementia.
Biomedicines
December 2024
Division of Basic Science and Translational Research, Department of Obstetrics and Gynecology, The University of Texas Medical Branch at Galveston, Galveston, TX 77555, USA.
Preeclampsia (preE) is a severe multisystem hypertensive syndrome of pregnancy associated with ischemia/hypoxia, angiogenic imbalance, apolipoprotein E (ApoE)-mediated dyslipidemia, placental insufficiency, and inflammation at the maternal-fetal interface. Our recent data further suggest that preE is associated with impaired autophagy, vascular dysfunction, and proteinopathy/tauopathy disorder, similar to neurodegenerative diseases such as Alzheimer's disease (AD), including the presence of the cis stereo-isoform of phosphorylated tau (cis P-tau), amyloid-β, and transthyretin in the placenta and circulation. This review provides an overview of the factors that may lead to the induction and accumulation of cis P-tau-like proteins by focusing on the inactivation of peptidyl-prolyl cis-trans isomerase (Pin1) that catalyzes the cis to trans isomerization of P-tau.
View Article and Find Full Text PDFCongenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
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