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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Vitiligo is an inflammatory, autoimmune disorder. Its pathogenesis is unclear. A neutrophil activation marker (calprotectin) is a protein complex present in many different types of cells and may be used as an indicator of inflammation. ⋯ Elevated levels of serum calprotectin in non-segmental vitiligo patients relative to healthy individuals with high sensitivity indicated that it may have a role in the vitiligo pathophysiology and can act as a marker for disease monitoring.
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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 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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The General Medical Council (GMC) has made it mandatory to have a chaperone present during intimate examinations, including breast exams, highlighting the importance of medicolegal protection for both patients and clinicians. ⋯ This study emphasizes the vital role of chaperones in clinical practice, urging a precise definition and targeted resolution for implementation challenges. Patient preferences highlight the need for a personalized approach, and increased awareness among healthcare professionals is essential.