Irish journal of medical science
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Limb-girdle muscular dystrophies constitute a heterogeneous group of neuromuscular diseases, both clinically and genetically. Limb-girdle muscular dystrophy by alpha-sarcoglycan deficiency or LGMD R3 α-sarcoglycan-related is a subtype of the autosomal recessive sarcoglycanopathies caused by variants in the alpha-sarcoglycan gene (SGCA) at 17q21.33. It appears in childhood by progressive weakness of pelvic and/or scapular girdle muscles and calf hypertrophy, with a wide range of clinical inter- and intra-familial clinical variability. ⋯ Our results expand the spectrum of variants in Moroccan patients with sarcoglycanopathy, specifically LGMDR3, most importantly as this form is not common in the Moroccan population.
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Double diabetes is a term used to describe people with type 1 diabetes who are overweight, show signs of insulin resistance, or have a family history of type 2 diabetes. Asprosin is a novel glucogenic adipokine; Asprosin regulates appetite and glucose metabolism. The study aimed to investigate the level of asprosin in people with double diabetes with and without hypothyroidism and its association with markers of insulin resistance. ⋯ Elevated asprosin levels might be a potential biomarker for the alteration in glucose metabolism, insulin resistance, and double diabetes. It may be the missing link between metabolic and endocrine disorders.
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To address the clinical diagnostic value of CRISPR-Cas13a-based molecular technology for tuberculosis (TB). ⋯ Bronchoalveolar lavage fluid CRISPR-Cas13a assay has high application value in the clinical diagnosis of TB and can be recommended for the initial screening of patients with suspected TB.
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To investigate the predictive power of the BUN/albumin ratio (BAR) measured in the emergency department (ED) for the requirement of renal replacement therapy (RRT) in patients admitted to the intensive care unit (ICU) with severe COVID-19 pneumonia and acute kidney injury (AKI). ⋯ In patients with severe pneumonia who develop acute kidney injury, the BUN/albumin ratio may guide clinicians early in predicting the need for renal replacement therapy.
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Osteoarthritis is a chronic degenerative disorder with rising prevalence. Early detection of structural damage is difficult. Consequently, there is a pressing demand for reliable biomarkers that enable an earlier diagnosis of osteoarthritis. The aim is to investigate the level of serum fibulin-3 in patients with primary knee osteoarthritis and its correlation with disease severity. ⋯ Serum levels of fibulin-3 can act as diagnostic markers for OA and may be useful in determining the severity of knee osteoarthritis.