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Entropy engineering activation of UiO-66 for boosting catalytic transfer hydrogenation.
Nat Commun
January 2025
State Key Laboratory of Inorganic Synthesis and Preparative Chemistry, College of Chemistry, Jilin University, 130012, Changchun, P. R. China.
High-entropy metal-organic frameworks (HE-MOFs) hold promise as versatile materials, yet current rare examples are confined to low-valence elements in the fourth period, constraining their design and optimization for diverse applications. Here, a novel high-entropy, defect-rich and small-sized (32 nm) UiO-66 (ZrHfCeSnTi HE-UiO-66) has been synthesized for the first time, leveraging increased configurational entropy to achieve high tolerance to doping with diverse metal ions. The lattice distortion of HE-UiO-66 induces high exposure of metal nodes to create coordination unsaturated metal sites with a concentration of 322.
View Article and Find Full Text PDFEEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFAnterior uveitis, pigmentary retinopathy, and pars plana exudates in Celiac disease.
Retin Cases Brief Rep
December 2024
Department of Histopathology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Purpose: To report a case of bilateral anterior uveitis, pigmentary retinopathy, and pars plana exudates in a patient with Celiac disease with complete resolution of inflammation following gluten-free diet.
Methods: Retrospective case report.
Results: A 19-year-old Asian Indian girl presented with bilateral non-granulomatous anterior uveitis for the past 2 months.
Nerve Fiber Layer Schisis in Coats Disease.
Retin Cases Brief Rep
December 2024
Casey Eye Institute, Oregon Health & Science University, Portland, OR.
Purpose: To describe two cases of pediatric patients with Coats disease who developed nerve fiber layer (NFL) schisis.
Methods: Observational case series.
Results: Two male pediatric patients, ages 2 and 14, who were being treated for Coats disease were found to have NFL schisis on optical coherence tomography.
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
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