Irish journal of medical science
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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.
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Polycystic ovary syndrome is the most extensive type of reproductive endocrine disease in department of gynecology. ⋯ Serum EMAb level in PCOS patients with infertility was significantly increased, and it was significantly correlated with sex hormone levels. Serum EMAb level could be used as a predictor of infertile patients with PCOS.
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Balance and coordination are important for performing activities of daily living. Balance and coordination assessment and training are used by physiotherapists in many different rehabilitation areas. Marmara Balance and Education System (MarBES) is a device developed to evaluate and improve balance and coordination. ⋯ Objective evaluation of balance and coordination parameters is very important in rehabilitation. Results of the study showed that the MarBES device developed by the researchers is a reliable method for the evaluation of balance and coordination in healthy young individuals.
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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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Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder that affects patients both physically and mentally. Our study aimed to investigate the burden of psychiatric disorders in IBS patients. ⋯ The presence of IBS is associated with an increased associated prevalence of psychiatric disorders such as anxiety, depression, and suicide attempt/ideation.