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Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.
Case Rep Endocrinol
December 2024
Henry Ford St. John Hospital, Detroit, Michigan, USA.
Article Synopsis
- A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
- Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
- Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
Retraction notice: Comparative genomic analysis of isolates from cases of bovine clinical mastitis identifies nine specific pathotype marker genes.
Microb Genom
December 2024
Microbiology Society, 1416 Meredith Street, London, UK.
Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel Pathogenic Variant.
Mol Syndromol
December 2024
Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V of Rabat, Rabat, Morocco.
Article Synopsis
- - Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder that leads to muscle weakness and heart problems, mainly caused by mutations in specific genes, identified through next-generation sequencing (NGS).
- - The study examined two Moroccan patients with EDMD, revealing one with a known splicing variant and another with a new frameshift variant, along with testing relatives for carrier status.
- - The findings highlight NGS as crucial for accurately diagnosing EDMD, managing patient care, and providing genetic counseling to affected families.
Improving the Characteristics of Fruiting Bodies in : The Impact of Rolipram-Induced cAMP Modulation.
Metabolites
November 2024
Microbial Research Institute of Liaoning Province, Chaoyang 122000, China.
Strains XG04 and XGT2 of (Berk.) Singer demonstrate a high degree of genomic similarity, with XGT2 representing a systematic selection of XG04 and exhibiting enhanced phenotypic traits. An investigation into the differences between these strains was conducted using untargeted metabolomics to identify potential causal factors.
View Article and Find Full Text PDFRetraction notice to "Can spike fragments of SARS-CoV-2 induce genomic instability and DNA damage in the guppy, Poecilia reticulate? An unexpected effect of the COVID-19 pandemic" [Sci. Total Environ. 825 (2022) 153988].
Sci Total Environ
December 2024
Laboratório de Pesquisas Biológicas, Instituto Federal de Educação, Ciência e Tecnologia Goiano - Campus Urutaí, GO, Brazil; Programa de Pós-Graduação em Conservação de Recursos Naturais do Cerrado, Instituto Federal de Educação, Ciência e Tecnologia Goiano - Campus Urutaí, GO, Brazil; Programa de Pós-Graduação em Ecologia e Conservação de Recursos Naturais, Universidade Federal de Uberlândia, MG, Brazil; Programa de Pós-Graduação em Biotecnologia e Biodiversidade, Universidade Federal de Goiás, GO, Brazil.
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