Arch Med Sci
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Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as Kallmann syndrome, or a normal sense of smell. Numerous studies have proven that hypogonadotropic hypogonadism is not simply a monogenic Mendelian disease, but that more than one gene may be involved in its pathogenesis in a single patient. The oligogenic complex architecture underlying the disease is still largely unknown. ⋯ The finding supports the importance of oligogenic inheritance and demonstrates the complexity of genetic architecture in hypogonadotropic hypogonadism. It also underlines the necessity for developing fine-tuned guidelines to provide a tool for adequate and precise sequence variant classification in non-Mendelian conditions.
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Osteoarthritis (OA) is the most common degenerative joint disease, and its aetiology is not entirely known. The aim of the study was to evaluate the involvement of interleukin-18 (IL-18) and interleukin-20 (IL-20) in the pathogenesis of knee OA and their correlations with other markers of inflammation and destruction of joint cartilage, as well as clinical and radiological changes. ⋯ The analysis of ROC curves showed that IL-20 as well as COMP, MMP-3, and YKL-40 may be diagnostic markers of knee OA. The observations indicate that IL-18 potentially mediates mainly in intra-articular processes and IL-20 could be primarily responsible for the systemic inflammatory reaction.
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The detection in mild cognitive impairment (MCI) of metabolic alterations suggestive of depression and/or of evolution to dementia. ⋯ In MCI FDG-PET/CT abnormality patterns suggest the presence of depression or the evolution to dementia.
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It is essential to predict the survival status of patients based on their prognosis. This can assist physicians in evaluating treatment decisions. Random forest is an excellent machine learning algorithm even without any modification. We propose a new random forest weighting method and apply it to the gastric cancer patient data from the Surveillance, Epidemiology, and End Results (SEER) program. We evaluated the generalization ability of this weighted random forest algorithm on 10 public medical datasets. Furthermore, for the same weighting mode, the difference between using out-of-bag (OOB) data and all training sets as the weighting basis is explored. ⋯ Compared with the original random forest, the weighted random forest model shows a significant improvement in performance, and the effect of using all training data as the weighting basis is better than using OOB data.
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Gigantomastia is a rare condition characterised by excessive breast growth. The pathophysiology of mammary enlargement varies depending on the type of gigantomastia: gestational, juvenile virginal, or idiopathic. The study aimed at examining the receptor status (oestrogen receptor α (ERα) and progesterone receptor (PR)) of breast tissue in adult women with juvenile or idiopathic gigantomastia. ⋯ Gigantomastia is not caused by increased expression of ERα and PR. Analysing abnormal sensitivity of these receptors to hormones may be crucial in establishing the increased risk of breast cancer in women with gigantomastia.