Background: Isolated central hypothyroidism, although rare, has been documented in case reports in patients with chronic kidney disease (CKD) treated with roxadustat, a novel agent in the treatment of renal anaemia.
Case Presentation: A woman in her sixties with CKD stage 5 (not in dialysis) and no prior thyroid disease, was started on treatment with roxadustat 70 mg x 3 weekly for renal anaemia. During treatment, the patient developed classic signs of hypothyroidism (fatigue, dry skin, constipation, difficulty concentrating), with blood samples consistent with isolated central hypothyroidism.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder (NDD) influenced by genetic, epigenetic, and environmental factors. Recent advancements in genomic analysis have shed light on numerous genes associated with ASD, highlighting the significant role of both common and rare genetic mutations, as well as copy number variations (CNVs), single nucleotide polymorphisms (SNPs) and unique de novo variants. These genetic variations disrupt neurodevelopmental pathways, contributing to the disorder's complexity.
View Article and Find Full Text PDFBackground: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.
View Article and Find Full Text PDFBackground And Aims: Developing a framework to identify the "real" needs of faculty members, the gap between the current and desired conditions, would lead to an effective faculty development program (FDP) and improve higher education quality and health system promotion. For the first time in Iran, instead of needs assessment based on faculty members preferences or assessing needs only in a few areas, this study aimed to assess the difference between "self-rated level of skill" as the current condition and "perceived importance" as the expected condition, regarding all faculty roles and levels at Hormozgan University of Medical Sciences (HUMS).
Methods: This study used a research-made questionnaire that included 73 items within nine domains.
In recent years, green synthesis methods of metallic nanoparticles (MNPs) have been attractive because of the more facile, cheaper, and appropriate features associated with biomolecules in MNPs biosynthesis. This research represented an easy, fast, and environmentally friendly method to biosynthesis of superparamagnetic iron oxide nanoparticles (SPIONPs) and silver nanoparticles (AgNPs) by the Satureja hortensis leaf extract as stabilizer and reducer. The SPIONPs synthesized in co-precipitation method.
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