Turk J Med Sci
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Alpha-1 antitrypsin (AAT) deficiency is associated with several types of pathology, and the reported effects of mutations in the ATT-encoding gene vary worldwide. No Turkish study has yet appeared. We thus explored the AAT status of Turkish patients with chronic obstructive pulmonary disease (COPD). ⋯ In patients with emphysema and normal serum AAT levels, genetic analyses may reveal relevant heterozygous mutations, which are commonly ignored. Most clinicians focus on lower lobe emphysema. Evaluations of such patients might reveal AAT mutations that are presently overlooked because they are not considered to influence COPD status.
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Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) for telemedicine applications, has not been studied yet. Therefore, we aimed to evaluate the reliability of PEESS v2.0 for telemedicine. ⋯ Unsynchronized telesurvey use of PEESS v2.0 is unreliable both for children and parents. We suggest testing the reliability of chosen telemedicine methods before using them in clinical and research practice.
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Multiple sclerosis (MS) patients may be protected against cancer because of increased immune surveillance. However, aberrant T/B cell functioning in MS may increase the risk of cancer. We aimed to compare the frequency of cancer among patients with MS with an appropriate control group matched by the variables such as age, gender, tobacco smoking history, body mass index (BMI), and family history of cancer. ⋯ There was no statistically significant difference in age, gender, tobacco smoking, and BMI between the groups after propensity score matching. The odds of having cancer were lower in our MS patients compared to the controls. The autoimmune changes responsible for the pathogenesis of MS may be responsible for the decrease in cancer risk.
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This study aims at examining the effects of Pilates training on the transversus abdominis (TrA) and internal obliques (IO) muscle thickness and core endurance in different positions in patients with Parkinson's Disease. ⋯ Pilates training has a favorable effect on the core endurance, and the TrA and IO muscle thickness of patients with Parkinson's disease and this effect can be maintained until three months after the training.
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A subset of melanocytic tumors with spitzoid morphology may lead to potential inaccurate diagnosis and lack of assessment of malignancy potential. In this study, we aimed to evaluate melanocytic tumors with spitzoid morphology using conventional melanoma FISH (RREB-1, CCND1, MYB and CEP6) and 9p21 FISH (CDKN2A) probes and compare the probe results with clinical and histopathological features. ⋯ These data suggest that 9p21 FISH positivity correlated with more worrisome histopathologic and clinical features, such as deep mitosis, increased mitotic activity, epidermal consumption, and larger lesion size, so these features are precious, pointing out spitzoid lesions with higher risk. However, there is a need for further studies using FISH or similar techniques in order to provide more accurate prognostic information in lesions Blank morphology.