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When the Expected Scenario Did Not Occur: A Novel <i>NDUFA12</i> Mutation Resembling Neuromyelitis Optica Spectrum Disorder
No full textMitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. NDUFA12, located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the NDUFA mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an NDUFA12 mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering NDUFA12 mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on NDUFA12 variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy
Comparison of pain catastrophizing, kinesiophobia, adaptation to artificial joint and functional outcomes following total knee arthroplasty in hemophilia
No full textCareer stories of becoming a woman surgeon in male-dominated fields in Türkiye
No full textThe purpose of this study was to examine the career development stories of Turkish women surgeons working in male-dominated fields. Using narrative inquiry, the data was collected following the timeline of experiences from early education to future job prospects as surgeons in male-dominated fields. The systems theory was also applied to understand how gender-based discrimination in the social and environmental-societal systems interacted with the individual system of personality traits, characteristics, skills, and abilities. The findings showed that experiences of gender discrimination escalated and gender stereotypical messages intensified as the women progressed in their career from medical school to becoming a surgeons in male-dominated fields. The stories uncovered gender-specific difficulties such as pressure to choose a different practice, prejudices, discrimination, power imbalance, and being exposed to violence in the workplace, leaving them burnt out and/or skeptical of their futures in the field. The results suggested urgent need for career support programs during medical school and in the workplace for women surgeons in T & uuml;rkiye to achieve equality in their profession
Philippe Claudel’in La petite fille de Monsieur Linh Adlı Yapıtının Türkçe Çevirisinin Tekil-içmetinsel Bir Yöntemle İncelenmesi
No full textİçmetinsellik bir yazarın tek bir yapıtı (tekil-içmetinsellik) ya da birçok yapıtındaki (çoğul-içmetinsellik) bağıntılı iç ilişkileri ifade eder (bu terimler Fransızca intramonotextualité ve intrapluritextualité kavramlarına dayanmaktadır). Yazın bilimi ve çeviribilim kesişiminde kaleme alınan bu çalışma, içmetinsellik kavramı şemsiyesi altında erek metinlerin kaynak metinlerle nasıl ilişkilendirilebileceğini tartışmaya yöneliktir. Çalışmanın amacı, yazın biliminde ele alınan içmetinsellik kavramının çeviribilimdeki yerini konumlandırmak ve bu kavramı çeviriye yönelik yeni bir bakış açısıyla tartışmaya açmaktır. Çalışmada, bir vaka çalışmasıyla içmetinsel bir bakış açısının çeviride nasıl incelenebileceği örneklendirilirken nitel ve betimleyici bir araştırma yöntemi benimsenmiştir. İnceleme sırasında ayrıca dört içmetinsel çeviri tekniğine başvurulmuştur (erek sözcük yinelemesi, yaratıcı koruma, zıt tutarlılık ve çevremetin açıklaması). Bu çeviri teknikleri kaynak ve erek metin arasında yapısal bir denge kurmak amacıyla aynılık, benzerlik ve zıtlık etkisi yaratma üzerine kurulmakta ve makale yazarı tarafından ilk kez bu çalışmada önerilmektedir. İçmetinselliğin çevirilerde yansıtılabilmesi ve incelenebilmesine imkân tanıyan bu çeviri tekniklerinin hem çevirmenlere hem de çeviribilimcilere hitap edebileceği vurgulanabilir. Bu çalışmada Philippe Claudel’in La petite fille de Monsieur Linh adlı yapıtının Türkçe çevirisi tekil-içmetinsel bir bakış açısıyla ilgili çeviri tekniklerinden hareketle incelenmiştir. Bu çerçevede, kaynak metinde tespit edilen içmetinsel karakteristik özelliklerin erek metne yansıtımında, bu özelliklere verilen yeni karşılıkların yanı sıra, yinelenme miktarlarının ve anlamsal tutarlılıklarının da belirleyici olabileceği sonucuna varılmıştır. Ayrıca, bire bir yinelenen biçimlerin birer biçemsel özellik (birey dil, sözlüksel alan) olarak değerlendirilmesinin de anlam oluşumuna katkıda bulunabileceği sonucuna varılmıştır. Bu çalışmanın çeviribilimde içmetinsellik kapsamında ele alınacak başka çalışmalara katkı sunabileceği düşünülmektedir.Intratextuality refers to the interconnected internal relations within a single work (intramonotextuality) or across multiple works (intrapluritextuality) by an author (originate from the French terms intramonotextualité and intrapluritextualité). Situated at the crossroads of literary studies and translation studies, this research explores how target texts can be linked to source texts under the framework of intratextuality. The primary aim is to position the concept of intratextuality within translation studies and to introduce it with a fresh perspective on translation analysis. The study adopts a qualitative and descriptive research method, illustrated through a case study that demonstrates how an intratextual perspective can be applied in translation. Four intratextual translation techniques—target word repetition, creative conservation, contrastive coherence, and peritextual explicitation—were utilized during the analysis. These techniques, introduced for the first time in this study, are designed to create effects of identity, similarity, and contrast, ensuring structural balance between source and target texts. They are expected to appeal to both translators and translation studies scholars. The Turkish translation of Philippe Claudel’s La petite fille de Monsieur Linh was examined from an intramonotextual perspective using these techniques. The findings reveal that the degree of repetition, semantic coherence, and the equivalents provided for intratextual features significantly impact the reflection of the source text’s intratextual characteristics in the target text. Furthermore, interpreting one-to-one repeated forms as stylistic features (e.g., idiolect, lexical field) may enhance meaning formation. This study is considered to contribute to future research in translation studies within the scope of intratextuality.</font
Corticosteroid use in PFAPA syndrome: clinical practice data from the JIR-CliPS Survey Study and a comprehensive literature review
No full textObjectives: CS are used to abort disease flares in periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. We aimed to obtain a global overview of physicians' CS usage strategies and analyse the data in the literature regarding CS use in PFAPA syndrome. Methods: The Juvenile Inflammatory Rheumatism Clinical Practice Strategies (JIR-CliPS) PFAPA questionnaire included nine questions on CS use in addition to the demographic data questions. The survey was distributed via e-mail to potential respondents. The MEDLINE/PubMed and Scopus databases were searched systematically to extract the data regarding CS use in PFAPA syndrome. Results: From 47 countries, 144 physicians (female/male = 2.6; 67.4% paediatric rheumatologists) answered the survey. Most respondents (n = 133; 92.4%) prescribe CS in PFAPA flares. The most frequently prescribed CS was prednisolone (63.2%). The definition of response to CS was indicated as 'response within 12 h' by the highest number of respondents (n = 61; 42.4%). When CS cause an increase in attack frequency, most (57.9%) consider another treatment if this causes a decrease in quality of life. Forty-four (30.6%) respondents were 'routinely' prescribing CS to PFAPA patients, and this practice was more frequent among more experienced physicians (P < 0.001). We identified 46 articles in the literature describing 4564 PFAPA patients treated with CS. Prednisone was the most frequently preferred CS (48.2%). Response to CS was around 95%, although an increase in attack frequency was noted in almost 35% of the patients. Conclusion: Physicians frequently use CS for PFAPA in their routine clinical practice. Regarding treatment modification, the quality of life was a prominent consideration for physicians
Pediatric Hematology-Oncology or Pediatric Hematology and Pediatric Oncology: A Need for Further Discussion
No full textCultural adaptation, validity and reliability of the Turkish version of north star ambulatory assessment
No full textPurpose The North Star Ambulatory Assessment (NSAA) is a functional motor outcome measure originally developed for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to perform the cultural adaptation and investigate the validity and reliability of the Turkish version of the NSAA (T-NSAA) in DMD. Methods After translation process, internal consistency, interrater and test-retest reliability of the NSAA were determined by using the Cronbach Alpha Coefficient and Intraclass Correlation Coefficient (ICC), respectively. Absolute reliability was determined by using the Standard Error of Measurement (SEM) with minimal detectable change at 95% limits of confidence (MDC95). Lower limb functionality of children was evaluated by Vignos Lower Extremity Scale (VLERS). To establish convergent validity, the correlations between T-NSAA and Motor Function Measure (MFM-32), 6-minute walk test (6-MWT), and VLERS were analyzed by using the Spearman's correlation coefficient. Results The study was completed with 86 patients with DMD whose age were mean 104.56 +/- 24.66 months. The internal consistency (Cronbach's alpha = 0.94), intra-reliability (ICC = 0.977) and inter-reliability (ICC = 0.972) of T-NSAA were excellent. SEM and MDC values were low indicating satisfactory absolute agreement (< %10). The T-NSAA had strong correlations with the MFM-total score, 6-MWT, and VLERS (p < 0.01). Conclusion T-NSAA is a valid and reliable tool to assess ambulatory status of Turkish-speaking DMD population
OrCAS: Origins, Compositions, and Atmospheres of Sub-Neptunes. I. Survey Definition
No full textSub-Neptunes-volatile-rich exoplanets smaller than Neptune-are intrinsically the most common type of planet known. However, the formation and nature of these objects, as well as the distinctions between subclasses (if any), remain unclear. Two powerful tools to tease out the secrets of these worlds are measurements of (i) atmospheric composition and structure revealed by transit and/or eclipse spectroscopy, and (ii) mass, radius, and density revealed by transit photometry and Doppler spectroscopy. Here, we present OrCAS, a survey to better elucidate the origins, compositions, and atmospheres of sub-Neptunes. This radial velocity survey uses a repeatable, quantifiable metric to select targets suitable for subsequent transmission spectroscopy and address key science themes about the atmospheric and internal compositions and architectures of these systems. Our survey targets 26 systems with transiting sub-Neptune planet candidates, with the overarching goal of increasing the sample of such planets suitable for subsequent atmospheric characterization. This paper lays out our survey's science goals, defines our target prioritization metric, and performs light-curve fits and statistical validation using existing TESS photometry and ground-based follow-up observations. Our survey serves to continue expanding the sample of small exoplanets with well-measured properties orbiting nearby bright stars, ensuring fruitful studies of these systems for many years to come
A Novel Feature Selection Approach-Based Sampling Theory on Grapevine Images Using Convolutional Neural Networks
No full textFeature selection, reducing number of input variables to develop classification model, is an important process to reduce computational and modeling complexity and affects the performance of image process. In this paper, we have proposed new statistical approaches for feature selection based on sample selection. We have applied our new approaches to grapevine leaves data that possess properties of shape, thickness, featheriness, and slickness that are investigated in images. To analyze such kind of data by using image process, thousands of features are created and selection of features plays important role to predict the outcome properly. In our numerical study, convolutional neural networks have been used as feature extractors and then obtained features from the last average pooling layer to detect the type of grapevine leaves from images. These features have been reduced by using our suggested four statistical methods: simple random sampling, ranked set sampling, extreme ranked set sampling, moving extreme ranked set sampling. Then, selected features have been classified with artificial neural network and we obtained the best accuracy of 97.33% with our proposed approaches. Based on our empirical analysis, it has been determined that the proposed approach exhibits efficacy in the classification of grapevine leaf types. Furthermore, it possesses the potential for integration into various computational devices
Smartphone-Compatible Electrospun Nanofiber Sensors for Fluorescent Detection of Picric Acid using Anthracene-Functionalized Halloysite Nanotubes
No full textPicric acid (PA, 2,4,6-trinitrophenol), which is highly soluble in water, seriously contaminates natural water sources and soil and causes significant health risks such as post-exposure sycosis, renal failure, abnormal liver function, and respiratory problems. This study aims to develop a novel nanosensing system based on halloysite nanotubes functionalized with anthracene groups (2) for the ultra-sensitive and selective detection of PA in complex real-world applications. Comprehensive characterization was performed using advanced microscopic (SEM, TEM), spectroscopic (FTIR, XRD, UV-Vis, fluorescence), and thermal (TGA) techniques. The hybrid nanosensor exhibited a robust "turn-off" fluorescence response driven by an electron transfer mechanism between PA's nitro groups and anthracene. Key sensing parameters were systematically optimized, including selectivity against competing compounds, photostability, and optimal sensor concentration. The system achieved remarkable detection and quantitation limits of 27.50 nM and 82.50 nM, respectively, with a linear range between 0.09 and 1.00 mu M. HPLC and spike recovery analysis were applied for validation and confirmed the method's reliability in detecting PA in lake water, food, and soil samples. The electrospinning technique was employed to fabricate portable nanofiber membranes by incorporating the nanosensor into a polycaprolactone polymer matrix, enabling the development of a practical test kit for real-world applications. The developed nanofiber membranes were successfully utilized as portable test kits, enabling rapid detection of PA through RGB analysis via a smartphone application. The results demonstrate the potential of this novel nanosensing platform for sensitive and reliable detection, offering promising applications in environmental and food safety monitoring