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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The Iowa Satisfaction with Anesthesia Scale (ISAS) is a valid and reliable measurement tool developed to evaluate patient satisfaction with anesthesia care during different surgical interventions. It is adapted to various languages and used in many studies. Considering the satisfaction of the patient with anesthesia applied in surgical procedures, the presence of such a measurement tool is crucial. ⋯ Based on the psychometric evaluation, ISAS-T is a valid and reliable measurement tool for measuring patient satisfaction with anesthesia applied during different surgical procedures.
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Case Reports
A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
Cutis laxa (CL) can be caused by mutations in a number of genes. Cutis laxa with autosomal recessive inheritance due to mutations in several genes, including mutations in the ATP6V0A2 gene, causes autosomal recessive cutis laxa type 2A (ARCL2A). The ATP6V0A2 gene encodes the a2 subunit in the V-ATPases pump. ⋯ A potentially pathogenic homozygous deletion mutation was detected in the ATP6V0A2 gene related to ARCL2A. This mutation has not been reported in the other patients with ARCL2A. A novel homozygous deletion mutation in ATP6V0A2 is supposed to be the reason for disease in our proband.
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The study involved 905 patients after coronary interventions, qualified for invasive diagnosis due to symptomatic coronary disease. ⋯ Age, gender, and education level influence pro-health behaviors. The majority of patients do not achieve the levels of LDL cholesterol and triglycerides consistent with the ESC guidelines in the secondary prevention of coronary disease. Inadequate check of risk factors may result in faster disease progression and coronary re-interventions.