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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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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Caregiving, which is often described as a stressful job due to the patience and dedication it requires, affects the physical and mental health of the employees of the profession due to various factors. ⋯ In this study, it was observed that low back and neck pain experience has negative effects on individuals' posture, burnout levels, and quality of life.
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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.