Irish journal of medical science
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Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, arthritis, and erysipelas-like-erythema, common among ethnic groups such as Turkish, Armenian, Arab, and Jewish. The disease is caused by mutations in the MEFV gene encoding the Pyrin. This study examines the genotypes of FMF patients from Amasya, Turkey. ⋯ The fact that the R202Q genotype, which is compatible with the known FMF clinic, is frequently seen shows that it should be included in routine molecular screenings of the patients. Functional studies of the R202Q variant pyrin protein should be performed to understand FMF better. Finally, it is unclear whether the R202Q genotype might be regarded as a mutation while being approved as a polymorphism in the inFevers database.
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Metered dose inhalers (MDIs) contain greenhouse gases which have a disproportionate effect on the carbon footprint of healthcare. There are more environmentally friendly alternatives such as dry powder inhalers (DPIs) or soft mist inhalers (SMIs). ⋯ Targeting inhaler prescribing offers the potential to significantly improve the carbon footprint of Irish healthcare. Establishing the current carbon footprint of the inhalers that are prescribed, dispensed, and disposed in Ireland is a necessary baseline to inform moving towards a net zero health service.
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Replacement of thyroid hormones (TH) with Levothyroxine (LT4) is the treatment of choice for hypothyroidism, however, there are aspects of treatment where uncertainties exist and practice varies. Factors influencing initiation and choice of TH replacement may impact patient satisfaction, safety, and health care costs. ⋯ LT4 tablets are the treatment of choice for hypothyroidism in Ireland. Approximately a third of Irish endocrinologists either regularly use, or would consider, liothyronine for hypothyroid patients. A significant proportion would give TH to euthyroid individuals in specific circumstances. The prescription of TH amongst Irish endocrinologists was generally in keeping with recommended practice, and areas where practice deviated from guidance were typically where evidence was conflicting or insufficient.
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Sestrin-2 (SESN2) is a antioxidant protein that can be activated by a number of conditions, including DNA damage and hypoxia. ⋯ Maternal serum SESN2 levels are elevated in IUGR and are associated with adverse neonatal outcome. Considering that SESN2 is involved in pathogenesis, it can be used as a new marker for the evaluation of IUGR.
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Evaluation of activities of daily living (ADL) and functional exercise capacity in patients with multiple sclerosis (pwMS) is crucial in demonstrating the effectiveness of interventions. ⋯ The Glittre ADL Test has excellent reliability and strong construct and criterion validity for assessing functional exercise capacity and ADL in fully ambulatory pwMS.