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A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses
No full textAmaç: Mukopolisakkaridozlar (MPS); glukozaminoglikanların (GAG) lizozom içerisinde yıkılamaması sonucu çoklu sistem tutulumlarına neden olan heterojen bir hastalık grubudur. MPS II ve III’ de santral sinir sistemi tutulumu daha ön plandadır. Erken dönemde bilişsel gerilik, davranış problemleri, ilerleyici davranış-uyku problemleri, gecikmiş konuşma, otizm benzeri bulgular, sebebi bilinmeyen zihinsel yetersizlik görülebilir. Gereç ve Yöntem: Mukopolisakkaridoz II ve III tanısı ile izlenen nöbet, gelişim basamaklarında gerilik, konuşma gecikmesi, nörolojik gelişim basamaklarında kayıp gibi nöropsikiyatrik semptomlarla başvuran hastaların sonuçları retrospektif olarak kaydedildi. Bulgular: Çalışmaya 11 olgu dahil edildi. 6 (%54,5)’sı erkek, 5 (%45,5)’i kadındı. MPS III olgularının 4 (%50)’ü MPS 3A, 3 (%37,5)’ü MPS IIIB, 1 (%12,5)’i MPS IIIC tanılıdır. Başvuruda 6 (%54,5)’sinde konuşma geriliği, 2 (%18,1)’ i bilişsel gerilik, 3 (%27,2)’ sinin ise hiperaktivite varken ek olarak 9 (%81,8)’inde motor gerilik de eşlik etmekteydi. Başvuru yaş ortalamaları 8,4 (±5,2 SDS) yıldı. 6 (%54,5)’sı fizik tedavi rehabilitasyon ve özel eğitim desteği almaktaydı. Sonuç: Nöropsikiyatrik semptomlarla başvuran hastalarda mukopolisakkaridozların da düşünülerek, İdrar GAG, enzimatik ve gereğinde genetik analizlerin yapılması, erken teşhis ve tedavi açısından önemlidir.Aim: Mucopolysaccharidoses (MPS) are a heterogeneous group of diseases characterised by systemic manifestations due to impaired glucosaminoglycans (GAG) degradation within lysosomes. Mucopolysaccharidosis type II (MPS II, Hunter) is a lysosomal disease caused by mutations in the iduronate-sulfatase (IDS) gene. MPS II is inherited in an X-linked recessive manner. Mucopolysaccharidosis type III (MPS III, Sanfilippo) is an autosomal recessive lysosomal disease. It has four subtypes (A, B, C, and D). MPS II and III particularly exhibit significant central nervous system involvement. Early clinical manifestations may include cognitive delay, behavioural disturbances, progressive behaviour-sleep problems, delayed speech, autism-like features, and unexplained intellectual disability. Materials and Methods: In this retrospective study, we recorded the clinical findings of patients who were diagnosed with mucopolysaccharidosis type II and III and presented with neuropsychiatric symptoms such as seizures, developmental delay, speech impairment, and loss of neurological milestones. Results: The study included eleven cases, comprising 6 (54.5%) males and 5 (45.5%) females. Among them, 4 (50%) were diagnosed with MPS IIIA, 3 (37.5%) with MPS IIIB, and 1 (12.5%) with MPS IIIC. Six patients (54.5%) had speech delay, while two (18.1%) had cognitive delay, and three (27.2%) had hyperactivity, with nine (81.8%) experiencing motor delay. The mean age at presentation was 8.4 (±5.2 SD) years, with six patients (54.5%) receiving physical therapy and special training. Conclusion: In patients presenting with neuropsychiatric symptoms, consideration of mucopolysaccharidoses along with urine GAG, enzymatic assays and, when indicated, genetic testing is crucial for early diagnosis and intervention
Yoga for children with chronic diseases
No full textThe prevalence of chronic diseases is on the rise globally, driven by two key factors: an increase in life expectancy and changes in lifestyle. Chronic diseases are defined by the World Health Organization and the United Nations as the most significant health concerns of the 21st century, representing a significant global threat, given that they account for a significant proportion of health expenditures. It is well documented that one in every ten children under the age of 15 worldwide suffers from a chronic disease. The treatment of chronic diseases is a complex process, often requiring long-term care and observation and frequently resulting in the development of permanent disabilities. Nurses should adopt a holistic approach when caring for children with chronic diseases, taking into account the physiological, psychological, economic, social, and cultural conditions of the child and their family. Yoga, a nonpharmacological method that contributes to the treatment of numerous physical and spiritual ailments, has witnessed a surge in popularity globally in recent years. It has also gained traction as a therapeutic approach within healthcare institutions, with mounting evidence attesting to its efficacy. Yoga is an efficacious practice that integrates physical activity, breathwork, and meditation for the purposes of enhancing strength, balance, pain control, and quality of life. It is included in pediatric exercise programmes. Especially in children, yoga attracts children's attention and creates a fun environment by using interactive elements such as games, music, storytelling, and visual materials. Yoga is a practice with a long history of use in the treatment of a wide range of diseases, including diabetes, obesity, epilepsy, cancer, asthma, hypertension, rheumatic joint diseases, and psycho-social disorders. Yoga offers a multitude of benefits to individuals, including relaxation, anxiety and depression reduction, blood pressure regulation, respiratory improvement, pain management, sleep regulation, nervous system, and physiological functioning regulation. These benefits are achieved through the practice of correct breathing techniques. Furthermore, research indicates that yoga can enhance motor skills, boost cognitive performance, and facilitate the development of self-regulation abilities. Yoga is a promising approach for pediatric chronic patients, offering symptom management and improvement of quality of life. It is an appropriate approach for nurses to support children holistically, addressing the patient's physical, mental, and social needs. Furthermore, it is beneficial for children with chronic diseases to adapt to their condition and to manage their disease in order to improve their quality of life. © 2025 Elsevier B.V., All rights reserved
Geography of Discontent in Türkiye: Populism, Autocracy, and Voting Behavior in General Elections of 2007-2023
No full textThis study analyzes voting behavior in T & uuml;rkiye's parliamentary elections from 2007 to 2023 under the rule of the Justice and Development Party (AKP), focusing on regional disparities and rising political discontent. Using province-level data and feasible generalized least squares (FGLS) estimation with region-specific interactions, the analysis identifies substantial regional variation in the determinants of electoral support for both incumbent and opposition parties. While economic growth positively influenced AKP votes-particularly in provinces in central-west T & uuml;rkiye-this effect was reversed in regions like the South-east, Marmara and Aegean-Mediterranean, where economic downturns and unemployment increased support for opposition parties. Socioeconomic variables, such as educational gender gaps, agricultural economic structure, and healthcare access, also shaped voting patterns. The study further highlights the significance of spatial cleavages and identity-based dynamics, including the persistent influence of Kurdish and Alevi demographics. The analysis of the AKP's vote swing between the June and November 2015 elections shows that economic and demographic variables alone are insufficient to explain the shift; instead, increased security concerns and nationalist rhetoric appear to have played a pivotal role. These findings underscore the need to account for spatial heterogeneity and political context when analyzing voting behavior in electoral authoritarian regimes.The authors received no specific funding for this work.We thank Prof. Ali Akarca for his valuable comments and contributions to the final version of this paper
Paired copy number variation analysis in siblings discordant for familial Parkinson’s disease
No full textObjectives: Numerous studies on the genetic pathogenesis of familial Parkinson’s Disease (PD) have explained the etiology of only a limited percentage of cases. In this study, we aimed to identify copy number variations (CNVs) in patients with familial PD compared to their healthy siblings. Methods: Genomic microarray analysis was performed using the CytoScan HD array platform, and paired copy number variation analysis was performed using Partek Genomics Suite. Results: A total of 211 CNVs were detected in patients (genomic markers per CNV >10, markers per base pair >0.0005). Genes localized in CNV regions were enriched in the “Metabolism of xenobiotics by cytochrome P450” pathway. Subsequently, CNVs located in regions with segmental duplication, large genomic gap or “dosage sensitivity unlikely,” with a frequency higher than 0.01%, and found to be “both amplified and deleted” in patients were excluded. Genes potentially affected by exonic copy number losses were HPGDS, TUBB8, ZMYND11, FLI-1, THADA, FAM47E, FAM47E-STBD1, AGMO, CYRIB, and MIR5194, while the detected copy number gains included the exons of the PCSK6, MIR4522, WSB1, C8orf44-SGK3, SGK3, and MCMDC2. No copy number variations were detected on chromosomes 13 and 18. Conclusions: Here, we report the results of the first paired CNV analysis in siblings discordant for Familial Parkinson’s Disease. Validation and frequency determination of rare and novel CNVs identified in larger familial PD cohorts may reveal novel PD risk genes. The metabolism of xenobiotics by cytochrome P450 pathway deserves further functional and translational studies in familial Parkinson’s disease. © 2025 Elsevier B.V., All rights reserved
Malaria in Turkey: A comprehensive analysis of diagnosis, treatment, and the impact of COVID-19, ten years after malaria elimination (2012-2023)
No full textBackground: The characteristics, diagnosis, and treatment stages of malaria in Turkey in the last ten years are not known except few case reports. We aimed to describe the details of the diagnosis and treatment practices of malaria cases in various hospitals across Turkey between 2012 and 2023 after the declaration of the elimination of malaria. Methods: We collected the patient data from 30 centers by using Qualtrics Survey Software. The patients were categorized according to the WHO Malaria Severe Disease Symptoms guidelines. Results: We detected 299 malaria cases. Of these patients, 23.7 % experienced misdiagnosis, with 77.5 % of misdiagnosed cases receiving antibiotics. Among the patients, 9 (3 %) had no travel history. Additionally, 28 (9.4 %) patients required admission to the intensive care unit (ICU) during hospitalization. There is a significant association between misdiagnosis and subsequent ICU admissions. Additionally, the duration between malaria diagnosis and the initiation of treatment significantly affected ICU admissions. Furthermore, the number of cases with severe malaria (according to WHO criteria) and ICU admissions increased after the COVID-19 period. In multivariate analysis, initial misdiagnosis was found to be associated with ICU admission (OR: 2.8, p < 0.05), while each day's treatment delays post-diagnosis increased ICU admissions (OR: 1.26, p < 0.05). Conclusion: Misdiagnosis is common which delays the treatment and is correlated with higher admissions to ICUs. Post-COVID-19, there was a notable increase in both ICU admissions and cases of severe malaria, suggesting an escalation in disease severity that warrants further investigation. The resurgence of rare malaria cases with no travel history to abroad highlights the necessity of continued vigilance for new malaria cases. Efforts to promptly treat upon diagnosis and improve diagnostic accuracy in Turkey, where malaria is uncommon, are crucial. Enhancing diagnostic methods and treatment strategies remains essential, especially in significant events like COVID-19
Multicenter Study on the Clinical Characteristics, Diagnosis, and Treatment Outcomes of Insulinoma: Insights From 15 Medical Centres
No full textObjective: This study aimed to evaluate the clinical characteristics, diagnostic approaches, and treatment outcomes of insulinoma patients from diverse regions across the country. We conducted a retrospective analysis of medical records from 76 adult patients diagnosed with insulinoma between 2018 and 2023 at 15 medical centres. Data collected included demographics, presenting symptoms, laboratory and imaging results, surgical reports, pathology findings, and clinical follow-up information. Design: Multi-centre retrospective study. Methods: The study revealed that key factors such as age, BMI, symptom duration, tumour size, and follow-up period were similar across genders. The majority of patients experienced neuroglycopenic symptoms, particularly during fasting. Insulinoma was typically diagnosed either during fasting or spontaneously, with no significant gender differences in glucose and insulin levels during hypoglycemia. However, men exhibited higher C-peptide levels (p < 0.05). Common comorbidities included hypertension, hypothyroidism, and cardiovascular conditions, and some patients had been using antiepileptics or antidepressants before their diagnosis. Results: Preoperative tumour diagnoses were largely accurate, with endoscopic ultrasound (EUS) being the most effective method. Most tumours were small (< 2 cm) and located in the pancreas body, with the majority being solitary. Surgical treatments primarily involved enucleation or distal pancreatectomy. Follow-up data indicated high remission rates, with low rates of nonremission and mortality. Conclusion: This study emphasises that early diagnosis and intervention, particularly in patients with a history of neurological or psychiatric issues, postprandial symptoms, or rapid symptom improvement after treatment, can lead to significantly better outcomes. © 2025 Elsevier B.V., All rights reserved
Post-training breakdown: acute effects of different training types on body hydration status and performance
No full textObjective Wrestling is a complex sport that requires a combination of strength, endurance, and wrestling-specific technical training. Endurance activities, such as running, are commonly performed for rapid weight reduction before competition. However, these activities can severely disrupt recovery and lead to significant declines in performance. This study aimed to examine the acute effects of endurance, strength, and wrestling training sessions on hydration status and performance parameters in young wrestlers, providing insights to guide more effective hydration and recovery strategies. Method A total of 14 experienced young wrestlers participated in a crossover design, completing endurance, strength, and wrestling training sessions on separate days. The hydration status was assessed through urine specific gravity (USG) before and after each session. The performance measures included hand grip strength, back and leg strength tests, anaerobic power (vertical and horizontal jumps), respiratory muscle strength (maximal inspiratory pressure, MIP), and reaction time assessments. Results The endurance training caused the most significant acute reductions in the hydration (USG increase: 0.016 +/- 0.005 g/cm3, p < 0.05) and body mass (BM; -1.89 +/- 0.4%, p < 0.05), along with immediate performance decrements in the back strength (-7.02 +/- 1.2%, p < 0.001), right-hand grip strength (-8.79 +/- 2.1%, p < 0.001), jump height (-7.26 +/- 1.8%, p < 0.001), and MIP (-9.01 +/- 2.3%, p < 0.001). The hydration levels in the endurance group did not fully recover by the next day (USG post-training vs. before the next day's training: p < 0.05). In contrast, the strength training improved the reaction time before the next day's session (+5.6 +/- 1.3%, p < 0.05), while the attention remained unaffected across all training types. Conclusion Endurance training-commonly used for rapid weight loss-can acutely compromise hydration and reduce key performance measures, with recovery taking more time compared to strength or wrestling sessions. Given these findings, endurance sessions should be strategically scheduled before rest days or low-intensity technical training to minimize their negative effects on subsequent performance. Implementing enhanced hydration strategies during endurance-focused sessions may also help mitigate these acute impacts and optimize recovery and performance in young wrestlers
In place modification of graphite screen-printed electrodes with spark generated copper nanoparticles for creatinine sensing
No full textThis study describes a non-enzymatic voltammetric sensor for the determination of creatinine, a vital biomarker utilized in diagnosing kidney diseases. The surface of a graphite screen-printed electrode (SPE) was modified with copper nanoparticles via a direct electrical discharge between the SPE and a copper pin at 1.2 kV at ambient conditions, using a G-code controlled 3D positioning device bearing a sparking head, without the need for any chemicals or liquids. Characterization of the Cu-sparked surface was performed using scanning electron microscopy, energy dispersive X-ray spectroscopy, cyclic voltammetry, and electrochemical impedance spectroscopy. Differential pulse voltammetry in 0.1 M acetate buffer pH 4.6 revealed a linear relationship between the peak current at ca. 0.05 V, associated with the oxidative formation of cupric ions creatinine complex, and the concentration of creatinine within the range of 5-125 mu M. The limit of detection (3 sigma/m) was found to be 2.3 mu M. Interference studies with uric acid, ascorbic acid, urea, and glucose demonstrated the high selectivity of the method towards creatinine. The sensor was effectively utilized for the determination of creatinine in artificial urine, yielding relative error values (%) ranging from 4.6 % to 6.7 %. This novel sensor offers distinct advantages over existing ones in terms of cost, fabrication simplicity, ease of surface modification, operational simplicity, and adherence to green chemistry principles in electroanalysis.Erasmus + Internship Programme; Ege University, TurkiyeAuthors would like to thank to the Erasmus + Internship Programme supporting to PhD candidate H.S during his stay in University of Ioannina, Greece based on the agreement of University of Ioannina, Greece and Ege University, Turkiye for facilitating support, funding and cooperation
Experimental Study on the Bending Behaviour of GFRP Laminates Repaired with Stainless-Steel Wire Mesh
No full textThis study experimentally investigates the use of stainless-steel woven wire mesh (SSWWM) as a patch material for repairing damaged glass fibre-reinforced (GFR) composite laminates. The effects of several factors on the three-point bending (3PB) behaviour of the parent laminate were examined, including the repair method (the plugging of open hole and the external patch repair), the mesh count of the SSWWM, and the number of SSWWM layers. According to the findings, all parameters considered in this study play a pivotal role in 3PB behaviour. Employing SSWWM as a patch material can recover 66.02-129.2% of the undamaged 3PB failure load, depending on the repair method, mesh count of the SSWWM, and number of SSWWM layers. Overall, decreasing the mesh count and increasing the number of SSWWM layers and applying an external patch repair method yield better results in terms of failure load and patch efficiency. This can be attributed to the increased wire diameter, improved bending rigidity, and better load distribution over a wider area. The SSWWM bridges the damaged zone, ensuring effective load transfer between the patch and parent laminate while preventing crack propagation. Utilising SSWWM as a patch material provides a quick, reliable solution for damage scenarios in engineering applications
The Effect of Nursing Care Based on Kolcaba's Comfort Theory on Symptom Severity and Comfort of Hemodialysis Patients
No full textAim: The present study was conducted to investigate the effect of nursing care structured according to Kolcaba's comfort theory and given to hemodialysis patients on their symptom severity and comfort. Design: This quasi-experimental study was conducted with 46 patients; 22 were in the intervention group and 24 were in the control group, who received treatment in the hemodialysis unit of a training and research hospital in Türkiye between November 2021 and May 2022. Methods: The Patient Information Form (PIF), Dialysis Symptom Index (DSI) and Hemodialysis Comfort Scale-Version II (HDCS-II) were used to collect data. Results: While the mean DSI scores decreased in the intervention group over time, they increased in the control group. The mean score obtained from the overall HDCS-II increased over time in three follow-ups performed at different times in the intervention group. The mean score obtained from the overall HDCS-II decreased over time in three follow-ups performed at different times in the control group. Conclusions: In the present study, nursing care structured according to Kolcaba's Comfort Theory given to hemodialysis patients reduced the severity of the symptoms in the participants and increased their comfort levels. © 2025 Elsevier B.V., All rights reserved