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Grape (Vitis vinifera L.) is among the most important commercial fruit species grown worldwide in terms of its economic value. Anatolia (Turkey), located in the favorable climate zone for viticulture, has a rich grape genetic potential due to its location at the intersection of the grapevine gene centers. In Turkish Kara grape germplasm, there are problems in terms of accuracy during the production phase due to the inadequacies in ampelographic definitions, and also very little information is available on genetic analysis of Kara grape germplasm. This study carried out genetic analysis of 49 Kara grape cultivars from six regions (sub-populations) of Turkey and 3 reference cultivars using 22 microsatellite loci (SSR), and ampelographic analysis were also performed concerning 39 OIV descriptors. In the SSR analysis, the average number of alleles per locus was 8.91, ranging from 4 to 13; four synonymous and five homonymous cases were also identified. In the population structure analysis, the genetic differentiation (Fst) values among six populations were moderate. In the BAPS analysis, all populations except Central Anatolia were found to be highly admixed with each other, and in the FCA analysis, the East Anatolia population was completely separated. In the multilocus lineages (MLLs) analysis, a total of three accessions were matched to different accessions as clone assignment. In this study, SSR-based genetic characterization of the Turkish Kara grape germplasm was revealed for the first time, and it is thought that the obtained data will help other grape genetic characterization studies and contribute to viticulture research in other areas such as breeding, protection and variety registration.

Metazoan development relies on the formation and remodeling of cell-cell contacts. Dynamic reorganization of adhesion receptors and the actomyosin cell cortex in space and time play a central role in cell-cell contact formation and maturation. Yet, how this process is mechanistically achieved remains unclear. Here, by building a biomimetic assay composed of progenitor cells adhering to supported lipid bilayers functionalized with E-cadherin ectodomains, we show that cortical Actin flows, driven by the depletion of Myosin-2 at the cell contact center, mediate the dynamic reorganization of adhesion receptors and cell cortex at the contact. E-cadherin-dependent downregulation of the small GTPase RhoA at the forming contact leads to both a depletion of Myosin-2 and a decrease of F-actin at the contact center. This depletion of Myosin-2 causes centrifugal F-actin flows, leading to further accumulation of F-actin at the contact rim and the progressive redistribution of E-cadherin from the contact center to the rim. Eventually, this combination of actomyosin downregulation and flows at the contact determine the characteristic molecular organization, with E-cadherin and F-actin accumulating at the contact rim, where they are needed to mechanically link the contractile cortices of the adhering cells.

This study analyzes role of Industry 5.0 strategies, sustainability plans, and the customer services combined with a responsible research and innovation (RRI) approach in gaining global competitive advantage in air-polluting industries. The study claims that when the companies internalize sustainability goals and combine them with RRI activities, Industry 5.0 strategies can result in successful outcomes. RRI approach plays an intermediary role between Industry 4.0 and Industry 5.0 strategies. The study proposes that when a conceptual model of RRI is combined with traditional strategic management tools, the new set of strategies can increase the company's global competitiveness in a sustainable way. In order to illustrate the model, case study method is used: One of the biggest companies in the Turkish cement industry is analyzed for its customer satisfaction, the sustainable production, Industry 4.0 and 5.0, and RRI activities.

This study aimed to present an analysis of deep transfer learning models to support the early diagnosis of Covid-19 disease using X-ray images. For this purpose, the deep transfer learning models VGG-16, VGG-19, Inception V3 and Xception, which were successful in the ImageNet competition, were used to detect Covid-19 disease. Also, 280 chest x-ray images were used for the training data, and 140 chest x-ray images were used for the test data. As a result of the statistical analysis, the most successful model was Inception V3 (%92), the next successful model was Xception (%91), and the VGG-16 and VGG-19 models gave the same result (%88). The proposed deep learning model offers significant advantages in diagnosing covid-19 disease issues such as test costs, test accuracy rate, staff workload, and waiting time for test results., Bu çalışmada, X-ray görüntüleri kullanılarak Covid-19 hastalığının erken teşhisini belirlemek için derin transfer öğrenme modellerinin analizinin sunulması amaçlanmıştır. Bu amaçla ImageNet yarışmasında başarılı olan VGG-16, VGG-19, Inception V3 ve Xception derin transfer öğrenme modelleri Covid-19 hastalığının tespiti için kullanılmıştır. Ayrıca eğitim verileri için 280 göğüs röntgeni görüntüsü ve test verileri için 140 göğüs röntgeni görüntüsü kullanılmıştır. İstatistiksel analiz sonucunda en başarılı modelin Inception V3 (%92), sonraki başarılı modelin Xception (%91) olduğu ve VGG-16 ve VGG-19 modellerinin de aynı sonucu verdiği görülmüştür (%88). Covid-19 hastalığı teşhisi için önerilen derin öğrenme modelleri, test maliyetleri, test doğruluk oranı, personel iş yükü ve test sonuçları bekleme süresi gibi covid-19 hastalığı sorunlarının teşhisinde önemli avantajlar sunmaktadır.

A propylimidazole functionalized coumarin derivative (IPC) was fabricated for the first time and applied as a dual responsive fluorescent chemoprobe for sensitive and selective recognitions of picric acid (PA) and Fe3+. Strong fluorescence quenching phenomena of the IPC were observed in H2O/ACN (5/95, v/v) medium (λem=408 nm) upon the additions of Fe3+or PA. The fabricated dual responsive IPC offered good selectivity and sensitivity with the low limit of detection values (0.92 µM for PA and 0.22 µM for Fe3+) lower than the acceptable amounts of Fe3+ and PA by the international official authorities. The interaction phenomena of IPC with PA and Fe3+ based on the findings of a range of experiments were considered and DFT computations were done to verify their recognition mechanisms. The sensing phenomena of IPC towards PA (1:1) and Fe3+ (3:1) were confirmed by the MALDI TOF–MS, FT–IR, 1H–NMR titration and Job's methods. Furthermore, the compound IPC was effectively applied as a fluorescent sensor for Fe3+ and PA detection in real natural spring water samples.

Background: The traditional methods for the detection and quantification of Cu2+ and Fe3+ heavy metal ions are usually troublesome in terms of high-cost, non-portable, time-consuming, specialized personnel and complicated tools, so their applications in practical analyses is limited. Therefore, the development of cheap, fast and simple-use techniques/instruments with high sensitivity/selectivity for the detection of heavy metal ions is highly demanded and studied. Methods: In this study, a fluorene-based fluorescent ''turn-off'' sensor, methyl 2-(2-((((9H-fluoren-9- yl)methoxy)carbonyl)amino)-3- phenylpropanamido) acetate (probe FLPG) was synthesized via onepot reaction and characterized by 1H-NMR, 13C-APT-NMR, HETCOR, ATR-FTIR and elemental analysis in detailed. All emission spectral studies of the probe FLPG have been performed in CH3CN/HEPES (9/1, v/v, pH=7.4) media at rt. The quantum (Φ) yield of probe FLPG decreased considerably in the presence of Cu2+ and Fe3+. The theoretical computation of probe FLPG and its complexes were also performed using density functional theory (DFT). Furthermore, bio-imaging experiments of the probe FLPG was successfully carried out for Cu2+ and Fe3+ monitoring in living-cells. Results: The probe FLPG could sense Cu2+ and Fe3+ with high selectivity and sensitivity, and quantitative correlations (R2>0.9000) between the Cu2+/Fe3+ concentrations (0.0−10.0 equiv). The limits of detection for Cu2+ and Fe3+ were found as 25.07 nM and 37.80 nM, respectively. The fluorescence quenching in the sensor is managed by ligand-to-metal charge transfer (LMCT) mechanism. Job’s plot was used to determine the binding stoichiometry (1:2) of the probe FLPG towards Cu2+ and Fe3+. The binding constants with strongly interacting Cu2+ and Fe3+ were determined as 4.56×108 M-2 and 2.02×1010 M-2, respectively, via the fluorescence titration experiments. The outcomes of the computational study supported the fluorescence data. Moreover, the practical application of the probe FLPG was successfully performed for living cells. Conclusion: This simple chemosensor system offers a highly selective and sensitive sensing platform for the routine detection of Cu2+ and Fe3+, and it keeps away from the usage of costly and sophisticated analysis systems.

A novel 1,8-naphthalimide-based chemical sensor with ratiometric fluorescence behavior, as well as “naked-eye” response was developed for the sensitive and specific determination of Cu2+ at nanomolar levels.

© 2022 John Wiley & Sons Ltd.Objective: Prader–Willi Syndrome (PWS) is the most common genetic cause of obesity. Prevention and management of obesity, which represents the main cause of morbidity and mortality in these patients, is essential. Ketogenic diet (KD) is used in the treatment of various disorders, however knowledge of its effect in PWS is lacking. The present study assesses the characteristics of patients with PWS who were on KD. Design and Patients: This is a retrospective, cross-sectional descriptive study investigating the subjects with PWS, who had received KD for at least 6 months. Results: Ten patients with PWS [median age 52.5 (47–77) months] complied with KD. The median treatment period was 16.5 [11–52] months. Of the daily calorie, 75%–85% were from fat, and 15%–25% from protein + carbohydrate. The baseline body weight standard deviation (SD) score before diet therapy was 2.10 [−1.11–4.11], whereas it was 0.05 [−0.92–1.2] at final evaluation (p =.007). The baseline median BMI SD score before diet therapy was 3.05 [−0.21–3.72], whereas it was 0.41 [−0.87–1.57] at final evaluation (p =.002). The height SD score remained unchanged. Mild hypercholesterolaemia was the most common biochemical abnormality during treatment with KD. Conclusion: Our results indicate that KD might have a favourable effect on weight management in PWS.

International audience; Dans cet article, nous présentons une nouvelle méthode de node-screening permettant d'accélérer un algorithme de Branch and Bound (BnB) résolvant le problème des moindres carrés avec pénalité L0. Notre contribution est un ensemble de tests permettant de détecter des solutions réalisables qui ne peuvent pas être optimales. Cela permet d'élaguer des noeuds au cours du BnB, réduisant ainsi le temps de résolution.

Fabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity. Deficient activity of alfa-galactosidase A results in progressive accumulation of globotriaosylceramide in a variety of tissues and organs including myocardium, kidney and nerve system. This disorder predominantly affects males; however, female heterozygotes may also be affected with a less severe clinical picture. Classic Fabry disease is usually diagnosed in early age of childhood because of multiorgan involvement whereas cardiac and renal variants of Fabry are manifested in 30-50 years of age because of late onset of clinical picture in which other organs involvement are uncommon. Although Fabry is known as a very rare disease, its prevalence is reported to be higher in patients with ventricular hypertrophy, chronic kidney disease and cryptogenic stroke. From the cardiology point of view, the most important key finding of the disease is unexplained ventricular hypertrophy. However, in clinical practice, ventricular hypertrophy is usually thought to be due to hypertrophic cardiomyopathy in the absence of hypertension or aortic stenosis and Fabry disease is often undiagnosed or overlooked. Early diagnosis and enzyme replacement therapy have been shown to significantly improve prognosis. The aim of this paper is to provide a comprehensive review including epidemiology, prognosis, clinical presentation, diagnosis and therapeutic approaches of cardiac variant of Fabry based on the available data in the literature.

Background Low back pain (LBP) is one of the most common disorders, with many possible causes including intervertebral disc degeneration (IVDD) and Modic changes. In this study we aimed to analyze whether the distribution pattern of Modic changes in the vertebral end-plates was associated with the severity of IVDD. Methods We conducted a cross-sectional analysis of a retrospective database. Patients with constant LBP were evaluated in terms of IVDD and Modic changes on lumbar spine magnetic resonance imaging. Statistical analyses were specifically performed for the lower lumbar levels. Results We evaluated 527 patients. Modic changes were detected in 25% of the patients. Severe IVDD was detected in 90% and 88% of patients with Modic changes through the whole end-plates at L4-L5 and L5-S1 levels, respectively. Patients with Modic changes at L5-S1 level had significantly lower lumbar lordosis. Presence of severe IVDD at L4-L5 and L5-S1 levels was associated with 2.7- and 2.9-times higher risk of more widely distributed Modic changes in those vertebral end-plates, respectively. Conclusions Severe IVDD was significantly more common in patients with Modic changes through the whole end-plate and in those with Modic type I changes.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 +/- 51.4) than in the adult patients (450.0 +/- 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children.

The common fig (Ficus carica L.) is a tree species and is one of the oldest fruit trees cultivated in Turkey. The Western Anatolian region of Turkey produces nearly a quarter of the total dried fig production of the world. This region also harbours a rich fig germplasm. However, so far this germplasm has remained largely uncharacterised. In this study, using 14 simple sequence repeat (SSR) primer pairs, we analysed a total of 310 fig accessions from six different regions of Anatolia. In structure analyses, Western Anatolian accessions formed a group, which was correlated with their geographical distribution. In addition, 7 identical, 36 synonymous, and 22 homonymous fig accessions were identified. In multilocus lineages (MLLs) analysis a total of 54 accessions were matched to different accessions as clone assignment. The results will facilitate future germplasm management and breeding efforts in this economically important tree species by identifying genetic diversity, genetic relations and characterising the structure of studied populations and accessions.

Ochronotic arthropathy (OcA) refers to excessive homogentisic acid (HGA) deposition in the musculoskeletal system. Our current understanding of OcA is limited, as there are less than a thousand alkaptonuria (AKU) cases reported in the literature. Herein, we investigated the rheumatological manifestations of OcA in a group of adult AKU patients.Adult AKU patients with symptoms suggestive of OcA were included. Patients underwent a detailed rheumatological assessment. Laboratory testing, including autoantibodies and radiological investigations such as conventional X-rays, andEight out of 12 (66%) patients had symptoms consistent with OcA. The median age at OcA symptoms was 36 (27-48) years, and the presenting symptom was back pain in 87.5% of the patients. All patients had chronic back pain, and three (37.5%) had an inflammatory type of pain character. Radiographic sacroiliitis based on X-rays was present in 2 (25%) cases. MRI of the sacroiliac joints documented bone marrow edema in five (62.5%), and spinal MRI identified corner inflammatory lesions in three patients (37.5%). One patient (12.5%) had rheumatoid arthritis. Extra-articular involvement, including enthesitis (The frequent occurrence of OcA-related inflammatory manifestations in our patients contradicts the conventional concept of OcA as a non-inflammatory disorder. The activation of inflammatory pathways, possibly by the HGA products, may responsible for this condition.Significance and innovationsAbout three-fourths of adult ochronotic arthropathy (OcA) patients in our group had associated inflammatory disease.OcA associated inflammatory diseases were showing a severe phenotypeNearly half of the OcA patients required early prosthesis operations compared to their healthy counterparts.

Happiness and subjective well-being are concepts that have been the subject of research since the earliest times of humanity. In addition to these two concepts in many fields, especially Philosophy, concepts such as meaningful life, ideal life, and life satisfaction have been discussed in many dimensions and different ideas have emerged on these issues. As a concept, happiness is an element that is difficult to make an acceptable definition by everyone. When the process we call life is considered, it is assumed that many actions are carried out in order to reach the feeling of happiness we mentioned. In general, the concept of happiness is a feeling in itself and the situation that happens at the moment that feeling occurs. The satisfaction that individuals or individuals feel about their lives is known as subjective well-being. Individuals are happy to the extent that they evaluate their living standards positively. According to Seligman, "Happiness" is often used by psychologists as it is a popular term expressing general life evaluations such as pleasant moods and feelings experienced at any given moment (positive affect), life satisfaction or subjective well-being but it doesn't work for more sensitive communication. On the other hand, subjective well-being is an umbrella term used to describe the level of well-being that people experience according to their subjective evaluation of their lives. From this point of view, subjective well-being addresses the well-being of individuals in a more inclusive way. The aim of this study is to compile information on the concept of subjective well-being in education.

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families, recruited in three Turkish hospitals between 2016 and 2020. All patients underwent deep phenotyping and trio whole exome sequencing, and data were integrated in advanced international bioinformatics platforms. We detected causative variants in 119 known disease genes in 72% of families. Due to overlapping phenotypes 52% of the confirmed genetic diagnoses would have been missed on targeted diagnostic gene panels. Likely pathogenic variants in 27 novel genes in 14% of the families increased the diagnostic yield to 86%. Eighty-two% of causative variants (141/172) were homozygous, 11 of which were detected in genes previously only associated with autosomal dominant inheritance. Eight families carried two pathogenic variants in different disease genes. De novo (9.3%), X-linked recessive (5.2%) and compound heterozygous (3.5%) variants were less frequent compared to non-consanguineous populations. This cohort provided a unique opportunity to better understand the genetic characteristics of neurogenetic diseases in a consanguineous population. Contrary to what may be expected, causative variants were often not on the longest run of homozygosity and the diagnostic yield was lower in families with the highest degree of consanguinity, due to the high number of homozygous variants in these patients. Pathway analysis highlighted that protein synthesis/degradation defects and metabolic diseases are the most common pathways underlying paediatric neurogenetic disease. In our cohort 164 families (86%) received a diagnosis, enabling prevention of transmission and targeted treatments in 24 patients (10%). We generated an important body of genomic data with lasting impacts on the health and wellbeing of consanguineous families, and economic benefit for the healthcare system in Turkey and elsewhere. We demonstrate that an untargeted next generation sequencing approach is far superior to a more targeted gene panel approach, and can be performed without specialised bioinformatics knowledge by clinicians using established pipelines in populations with high rates of consanguinity. The project is supported by TUBITAK (The Scientific and Technological Research Council of Turkey) Project No. 216S771. YO is supported by the Turkish Academy of Sciences’ Young Investigator award, TÜBA-GEBİP (2017). PFC is a Wellcome Trust Principal Research Fellow (212219/Z/18/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UU_00015/9), the Leverhulme Trust (RPG-2018-408), an MRC research grant (MR/S035699/1), an Alzheimer's Society Project Grant (AS-PG-18b-022). This research was supported by the NIHR Cambridge Biomedical Research Centre (BRC-1215-20014). RH was supported by the European Research Council [309548], the Wellcome Investigator Award [109915/Z/15/Z]. the Medical Research Council (UK) [MR/N025431/1]; the Wellcome Trust Pathfinder Scheme [201064/Z/16/Z], the Newton Fund [UK/Turkey, MR/N027302/1], the Lily Foundation and the Evelyn Trust. HL receives support from the Canadian Institutes of Health Research (Foundation Grant FDN-167281), the Canadian Institutes of Health Research and Muscular Dystrophy Canada (Network Catalyst Grant for NMD4C), the Canada Foundation for Innovation (CFI-JELF 38412), and the Canada Research Chairs program (Canada Research Chair in Neuromuscular Genomics and Health, 950-232279). Sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung and Blood Institute grant UM1 HG008900 and in part by National Human Genome Research Institute grant R01 HG009141. Data was analysed using the RD-Connect Genome-Phenome Analysis platform developed under FP7/2007-2013 funded project (grant agreement nº 305444) and funding from EJP-RD and INB/ELIXIR-ES. The study was further supported by the Horizon 2020 research and innovation program via grant 779257 “Solve-RD” (RH, SB, AT and HL). RH, PFC and YO were supported by an MRC strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) MR/S005021/1

A new cyanobiphenyl-based compound 4-hydroxy-3-(((4-(phenylamino)phenyl)imino)methyl)-[1,1-biphenyl]-4-carbonitrile (PEBP) for Cu