An amendment to this paper has been published and can be accessed via the original article.
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http://dx.doi.org/10.1186/s12909-020-02108-2 | DOI Listing |
Biochem Genet
January 2025
Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.
Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL. Features of two probands with NHSL were clinically and genetically evaluated.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Division of Endocrinology and Metabolism, Department of Medicine, Mayo Clinic Rochester, USA.
Context: TIO, a paraneoplastic disorder characterised by renal phosphate wasting, is cured by surgical removal of the culprit tumour. Despite correct localization, some remain refractory to intervention, resulting in substantial long-term medical complications.
Aim: We aim to identify risk factors associated with a refractory outcome.
Rev Med Chil
May 2024
Departamento de Nefrología, Clínica Dávila, Santiago, Chile.
Unlabelled: Uremic leontiasis ossia (ULO) is a rare manifestation of renal osteodystrophy in) patients with end-stage chronic kidney disease (CKD) and secondary hyperparathyroidism (SHPTH). It occurs due to increased osteoclastic activity secondary to high plasmatic parathyroid hormone (PTH) levels. This leads to bone deformation with thickening and massive enlargement of the cranial vault, resulting in a leonine face appearance.
View Article and Find Full Text PDFRev Med Chil
July 2024
Institute for Healthcare Improvement, Boston, MA, Estados Unidos.
Unlabelled: Asthma is a chronic non-communicable disease considered a serious health problem worldwide. The Chronic Care Model promotes the self-management of patients' chronic conditions. This process requires an active engagement of health professionals to provide education for patients to manage their disease better.
View Article and Find Full Text PDFAging (Albany NY)
December 2024
Department of Oncology, Jiujiang University Affiliated Hospital, Jiujiang 332000, P.R. China.
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