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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Long Covid (LC) is the continuation or development of new symptoms after initial COVID-19 infection. Little is known about General Practitioners' (GP) experience of managing patients with LC. ⋯ There was a lack of confidence in the diagnosis and management of LC, and in the interface with secondary care. There is demand for educational interventions to assist GPs with their care of patients with this emerging condition.
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Multiple myeloma (MM) is defined by the excessive growth of cancerous plasma cells in the bone marrow, resulting in the production of an abnormal monoclonal paraprotein and signs of damage to vital organs. The diagnosis of multiple myeloma can be complex. This paper centers on the diagnosis of MM and examines the role of the gamma gap (GG) in prompting tests to assess treatment effectiveness. ⋯ The evaluation of GG in the serum of MM patients demonstrated elevated levels, which were significantly associated with patients post-treatment. Therefore, our findings have significant implications for the use of GG as a prognostic indicator for monitoring treatment response in MM patients.
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The iRefer guidelines provide evidence-based recommendations on imaging and are designed to facilitate appropriate referrals and limit unnecessary radiation exposure. In 2017, a review at this institution assessed the appropriateness of imaging referrals. This study provides an update 5 years later on the referral appropriateness and aims to assess what impact the previous review has had on referral appropriateness. ⋯ The volume of radiograph requests reduced after over a 5-year interval; however, the relative proportion of inappropriate requests rose significantly. The iRefer guidelines provide a useful resource to ensure that imaging is used appropriately, effectively, and safely; however, more work is needed to ensure that requests are adhering to these guidelines.