The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

Development of a cleaner production and industrial symbiosis system for eco-industrial parks

Endüstriyel sürdürülebilirlik çalışmalarının en önemli kavramları Temiz Üretim ve Endüstriyel Simbiyoz teknikleridir. Bu tez çalışması, Türkiye – İsviçre ortaklı Avrupa Birliği projesi desteği çerçevesinde hayata geçirilen Temiz Üretim ve Endüstriyel Simbiyoz karar - destek platformunun geliştirilmesini kapsar. Yapılan çalışmalar sonucunda ölçeklenebilir ve özelleştirilmiş bir destek platformu tasarlanmış ve geliştirilmiştir. Platform üzerinde yapılan vaka analizleri ve sonuçları tez içerisinde paylaşılmıştır.Cleaner Production and Industrial Symbiosis methodologies are mainstream applications for sustainability. This thesis involves the development of a decision support platform for Cleaner Production and Industrial Symbiosis funded by European Union Programme, FP7/LEADERA. Platform has been designed and developed to be scalable and customizable. The results of the case studies which are implemented on the platform, has been shared in the thesis as well

An Alternative Method For Constructing An Obturator Prosthesis For A Patient With A Bilateral Cleft Lip And Palate: A Clinical Report

The design of esthetic and effective dental prostheses for bilateral cleft lip and palate patients is a challenge for prosthodontists because the prostheses must serve more than one purpose. The goals to be attained by prosthetic intervention are preventing food and liquid leakage into the nose, improving speech intelligibility, a more esthetic appearance, and achieving the general satisfaction of the patient. The framework design of the obturator prosthesis is of great strategic importance for patients with a cleft lip and palate. The reduction in the mass of the obturator prosthesis increases stabilization and retention and also contributes to an easier adaptation to the prosthetic restoration. In this report, a 22-year-old woman was successfully treated with a fixed partial denture and a bar-retained obturator with palatal coverage

Prosthetic Rehabilitation of Velopharyngeal Insufficiency: Pharyngeal Obturator Prostheses with Different Retention Mechanisms

Pharyngeal obturator prostheses restore the congenital or acquired defects of the soft palate and allow adequate closure of palatopharyngeal sphincter. Two patients with soft palate defect and subsequent velopharyngeal insufficiency were rehabilitated using pharyngeal obturator prostheses which had different retention mechanisms. Since it is necessary for swallowing and intelligible speech, the patients were examined in terms of adequate velopharyngeal closure after prosthetic treatment. The results were satisfying for both the patients and physicians

Changes in Sexual Function of Patients with Cancer in Turkey

This study was carried out to determine the changes in sexual functioning of patients with cancer. We identified the frequency and causes of changes in sexual functioning among patients with cancer, and determined whether this change differed according to age, type of cancer, type of treatment, side effects of drugs, anxiety, depression, and perceived social support. The study was conducted with 192 patients with cancer. Data were collected using the data collection form which included questions about socio-demographic, disease-related characteristics as well as those related to changes in sexual functioning. In addition, the Hospital Anxiety and Depression Scale and the Multidimensional Scale of Perceived Social Support Scale were used. Data were analyzed using the SPSS 15.0 software. For analyzing the data, means, frequencies, percentages, t test and Pearson's Chi square test were used. Of the patients with cancer, 69.3% were experiencing changes in sexual functioning, where 75.9% of those began to have changes in sexual functioning only after the cancer. Experiencing changes in sexual functioning after cancer did not differ according to the type of cancer (when genitourinary cancers and breast cancer were compared to the other cancer types) (p > 0.05). Experiencing changes in sexual functioning after cancer significantly differed according to age, the presence of fatigue, and depression scores (p < 0.05). The mean age of those who experienced changes in sexual functioning after the cancer was lower than those who did not, their fatigue rate and depression scores were higher. It is suggested that healthcare professionals should view sexual functions as vital functions such as movement, eating, and respiration and evaluate patients with regard to those functions