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Prevalence of Malnutrition in Children With Congenital Ichthyoses in a Tertiary Care Centre in India.
Pediatr Dermatol
January 2025
Department of Dermatology, Lady Hardinge Medical College, New Delhi, India.
Malnutrition has been reported in congenital ichthyoses in several studies, but its prevalence in Indian children with congenital ichthyoses (CI) as compared to unaffected children is unknown. The objective was to assess the prevalence of malnutrition in 32 children with CI and matched healthy controls and to study the correlation between clinical severity of ichthyosis using visual ichthyosis index severity (VIIS) score with malnutrition, biochemical parameters (hemoglobin, vitamin D, protein and albumin). Malnutrition was detected in 46.
View Article and Find Full Text PDFMolecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFA Gain-of-Function Mutation in the Ca Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.
Cells
November 2024
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.
Store-operated Ca entry (SOCE) controls Ca homeostasis and mediates multiple Ca-dependent signaling pathways and cellular processes. It relies on the concerted activity of the reticular Ca sensor STIM1 and the plasma membrane Ca channel ORAI1. STIM1 and ORAI1 gain-of-function (GoF) mutations induce SOCE overactivity and excessive Ca influx, leading to tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK), two overlapping disorders characterized by muscle weakness and a variable occurrence of multi-systemic anomalies affecting spleen, skin, and platelets.
View Article and Find Full Text PDFBiologics in congenital ichthyosis: are they effective?
Br J Dermatol
October 2024
Departments of Dermatology and Pediatrics, Northwestern, University Feinberg School of Medicine, Chicago, Illinois, USA.
Background: Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in CI raised the possibility of repurposing available biologics.
View Article and Find Full Text PDFEvaluation of tracheal diameter and angles in fetuses with double aortic arch using prenatal ultrasound: implications for postnatal management.
Front Med (Lausanne)
August 2024
Department of Medical Ultrasonics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Objective: This study aims to analyze the value of prenatal ultrasound in the screening, diagnosis, and treatment of double aortic arch (DAA) malformations.
Methods: A retrospective analysis was conducted on 31 fetal cases with double aortic arch anomalies over a 12-year period from June 1, 2011 to June 1, 2023. The assessment included combined measurements of fetal tracheal internal diameter Z-score and DAA pinch angle, along with ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes.
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