Arch Med Sci
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The FMR1 gene plays an important role in brain development and in the regulation of ovarian function. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome, premature ovarian failure, etc. Repeats ranging < 55 CGG are considered normal, however recent studies suggest that high-normal (35-54 CGG) and low-normal (< 26 CGG) alleles may also have an impact on female reproductive function. ⋯ In our study, the FMR1 gene high-normal alleles were associated with secondary infertility. However, to address the controversies related to the role of FMR1 genes in the development of diminished ovarian reserve, further studies on the subject are required.
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Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient's oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500-3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization.
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The study aimed to investigate how pain severity in the shoulder region affects balance ability, postural stability and fall risk. ⋯ The results indicated that shoulder pain severity affects balance parameters. As pain level at rest increases, postural sway increases in a medio-lateral direction, and towards the left while standing on the right foot. Approaches regarding increasing balance and postural instability should be included in physiotherapy and rehabilitation programs of patients with shoulder pain at an early phase to protect patients from balance problems and fall risk.
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This is a report of a systematic review of the safety and efficacy of naltrexone or naltrexone/bupropion on weight loss. ⋯ Based on these studies, it can be said that naltrexone/bupropion treatment is effective in the weight loss of overweight subjects. The naltrexone/bupropion treatment was well tolerated by the patients, and side effects were rarely reported.
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Review
Does a high-fat diet-induced obesity model brown adipose tissue thermogenesis? A systematic review.
In this systematic review, we analysed studies that assessed the brown adipose tissue (BAT) activity in the high-fat/cafeteria diet model of obesity in rats. ⋯ Despite the consolidated use of high-fat/cafeteria diets as a model to induce obesity, the identification of the energy expenditure arm has been slow, especially the direct quantitative assessment of the contribution of BAT to the increase in metabolic rate in rats fed a cafeteria/high-fat diet.