Irish journal of medical science
-
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.
-
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, caused by CGG-repeats expansion (> 200 repeats). Premutation alleles (PM) (55-200 CGG repeats) are associated with tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and autistic problems. ⋯ Molecular diagnostic assay including (MS-PCR) and (qRT-PCR) proved to be a sensitive and rapid screening tool for the detection of premutation cases. Furthermore, the presence of positive correlation between FMR1 mRNA expression levels with CGG repeats in premutation cases could serve as a potential diagnostic marker. Application of these diagnostic tools on larger number clinically suspected cases is recommended.
-
Determining the predictive factors for cardiac arrest may be helpful in the management of in-hospital cardiac arrest (IHCA) and out-of-hospital cardiac arrest (OHCA) and in estimating the outcome. Therefore, in the present study, we aimed to investigate the effect of demographic data, cardiopulmonary resuscitation (CPR) initiating setting, compression method, and laboratory parameters on survival from cardiac arrest. ⋯ The results of this study revealed no significant difference between IHCA and OHCA CPR applications and between manual and mechanical compressions in terms of survival in patients with cardiac arrest. In addition, higher pH levels and lower lactate levels measured during CPR were independent predictors of survival.
-
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.
-
The prevalence of obstructive sleep apnea (OSA) in older people (aged over 65 years) is high. However, OSA in older populations has not received sufficient attention. This study examined the clinical phenotypic characteristics of older patients with newly diagnosed OSA. ⋯ The presence of OSA in older adults was associated with significant abnormalities of sleep architecture, aggravated nocturnal hypoxia and increased risks of hypertension, CAD, and stroke, which can be distinguished as a unique clinical phenotype.