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Congenital 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.
The Role of Prenatal Exposure to Lead and Manganese in Child Cognitive Neurodevelopment at 18 Months: The Results of the Italian PHIME Cohort.
Toxics
January 2025
Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.
Prenatal lead (Pb) and manganese (Mn) exposure can impair neurodevelopment, targeting the central nervous system. This study investigated the effects of prenatal exposure to Pb and Mn on neurodevelopment in children at 18 months of age, using data from 607 Italian mother-child pairs enrolled in the Northern Adriatic Cohort II (NAC-II). All children born at term (≥37 weeks) were assessed with the Bayley Scales of Infant and Toddler Development, third edition.
View Article and Find Full Text PDFInfluenza Immunization in Very-Low-Birth-Weight Infants: Epidemiology and Long-Term Outcomes.
Vaccines (Basel)
January 2025
Airway Research Center North, German Center of Lung Research (DZL), 23562 Lübeck, Germany.
Background: Very-low-birth-weight infants (VLBWIs; birth weight < 1500 g) are at an increased risk of complicated influenza infection, which frequently includes pneumonia, encephalitis or even death. Data on influenza immunization and its outcome in VLBWIs are scarce. This study aimed to provide epidemiological data on influenza immunization for German VLBWIs and hypothesized that immunization would protect VLBWIs from infection-mediated neurodevelopmental impairment and preserves lung function at early school age.
View Article and Find Full Text PDFMaternal plasma urocortin level as a biomarker of preterm birth: a prospective cohort study in Sulaimaniyah city in Iraq.
J Int Med Res
January 2025
Department of Clinical Medical Sciences, College of Medicine, University of Sulaimani, Sulaimaniyah, Iraq.
Objective: To evaluate the value of the urocortin (UCN) level to predict preterm delivery in women with threatened preterm labour.
Methods: This prospective cohort study included 96 women with a singleton pregnancy between 28 and 34 weeks of gestation who were admitted with threatened preterm labour. The participants were monitored until delivery.
A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome.
Clin Pract
January 2025
Department of Neurosurgery, University Hospital, 04103 Leipzig, Germany.
: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) tumor suppressor gene on chromosome 10q23.31. This can result in a lifelong tumor predisposition in patients.
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