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Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFOutcomes of a Population-Based Congenital Cytomegalovirus Screening Program.
JAMA Pediatr
January 2025
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.
Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.
Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.
Rationale: Congenital ectropion uveae (CEU) is a rare, nonprogressive anomaly characterized by the proliferation of the iris pigment epithelium on the anterior surface of the iris, often associated with glaucoma. Due to its rarity and complexity, standardized glaucoma surgical management is limited. To our knowledge, the application of glaucoma drainage devices in CEU is rarely documented.
View Article and Find Full Text PDFVentricular lead malfunction in a patient with complete atrioventricular block and corrected transposition of the great arteries: Is leadless pacemaker the best solution?
J Cardiol Cases
October 2024
Second Division of Cardiology, Pisa University Hospital, Pisa, Italy.
Unlabelled: Corrected transposition of the great arteries (c-TGA) is a congenital abnormality characterized by atrioventricular (AV) and ventriculoarterial discordance, associated with early and late-onset conduction disturbances. We report the case of a c-TGA patient affected by congenital complete AV block, with right ventricular lead malfunction with prolonged dwell time and two abandoned leads. He underwent leadless VDD pacemaker implantation at an unusual site (i.
View Article and Find Full Text PDFAssociation between the existence of neonatal congenital anomalies and maternal postpartum depression up to 6 months after delivery: The Japan Environment and Children's Study.
J Affect Disord
January 2025
Institute of Health and Sport Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.
Background: Postpartum depression (PPD) is a significant public health concern; however, its association with congenital anomalies (CAs) remains understudied. This study investigated the relationship between CAs and PPD risk and identified persistent patterns of PPD among mothers of infants with and without CAs.
Methods: We analysed data from 86,464 mother-child pairs in the Japan Environment and Children's Study.
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