We report a full-term baby boy who presented soon after birth with severe congenital rickets. Maternal and neonatal vitamin D levels were very low and the infant responded well to oral vitamin D. Transient secondary hyperparathyroidism normalised on treatment. The mother's vitamin D deficiency was attributed to the region's cultural dress code which prevents exposure to sunlight. There has not been a previous report of severe congenital rickets from this region.
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http://dx.doi.org/10.1179/027249302125000940 | DOI Listing |
Viruses
December 2024
Department of Research, Altino Ventura Foundation (FAV), Recife 50070-040, Brazil.
Deformities, body asymmetries, and muscle contractures are common consequences of atypical postural patterns in children with c ongenital Zika syndrome (CZS). This study aimed to evaluate the posture of children with CZS, considering their neurological and visual impairments. Ophthalmological assessment included binocular best-corrected visual acuity (BCVA) using Teller Acuity Cards II (TAC II) and an ocular motility evaluation.
View Article and Find Full Text PDFPathogens
December 2024
Center for Proteomics, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.
Human cytomegalovirus (HCMV) rarely infects the brain following infection of adult individuals. However, the virus readily infects the brain during congenital HCMV (cHCMV) infection, frequently causing severe neurodevelopmental and neurological sequelae. Interestingly, although the incidence of cHCMV infection is 0.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists. We developed and characterized a K562 erythroleukemia cell line with markedly reduced expression of the SLC25A38 protein (A38-low cells). This model successfully recapitulated the main features of CSA, including reduced heme content and mitochondrial respiration, increase in mitochondrial iron, ROS levels and sensitivity to oxidative stress.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Internal Medicine, Erasmus Medical Center (Erasmus MC), Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Consuming a "modern" Western diet and overnutrition may increase insulin secretion. Additionally, nutrition-mediated hyperinsulinemia is a major driver of ectopic fat deposition. The global prevalence of metabolic syndrome is high and growing.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Internal Medicine and Geriatric Cardiology, Medical Centre of Postgraduate Education, 81-813 Warsaw, Poland.
Female sex is one of the Long COVID (LC) risk factors; however, the LC predictors in females have not been established. This study was conducted to assess the influence of LC on the cardiovascular system and to assess the age-independent predictors of LC in females. : Patient information and the course of the disease with symptoms were collected in women at least 12 weeks after COVID-19 recovery.
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