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Objectives: This study aimed to determine physical activity levels and understand the factors influencing an active lifestyle among patients with primary Sjögren's syndrome (pSS). Methods: Ninety-seven patients participated in this multicentric study. Physical activity levels were assessed using the International Physical Activity Questionnaire-Short Form (IPAQ-SF). The Inflammatory Arthritis Facilitators and Barriers (IFAB) questionnaire was used to evaluate perceived barriers and facilitators to physical activity. Results: Forty-six patients were physically inactive and the rest of them were moderately active. Commonly identified barriers included a lack of motivation, fatigue, and pain. Conversely, knowledge of the health and mood benefits for physical activity emerged as a key motivator. Patients with better scores on facilitators and lower scores on barriers exhibited higher physical activity levels (p<0.05). Notably, a high level of perceived facilitators of physical activity (odds ratio [OR]: 1.02; 95% confidence interval [CI], 1.00 -- 1.05) and reduced pain (OR: 0.81; 95% CI: 0.69 -- 0.95) were linked to an active lifestyle. Conclusions: This study emphasizes the role of motivation and awareness of the benefits of physical activity for health and mood in driving physical activity for patients with primary Sjögren's syndrome. Tailored physical activity programs that address psychological aspects and disease-related pain, and fatigue should be designed to counter sedentary lifestyles in pSS patients. [ABSTRACT FROM AUTHOR]

The peroxisome proliferator-activated receptor gamma (PPARG) C161T polymorphism (rs3856806) may be a risk factor for in-stent restenosis (ISR) due to its known associations with type 2 diabetes (T2DM), obesity, and coronary artery disease (CAD). This study aims to investigate the relationship between PPARG-C161T polymorphism and the risk of ISR, considering clinical features.

The purpose of the study is to determine the prevalence of interleukin (IL)-1A (rs1800587), IL-1B (rs1143634) and vitamin D receptor (VDR) (TaqI, rs731236) gene polymorphisms in the Turkish population and their association with Stage III Grade B/C periodontitis. Systemically and periodontally healthy individuals (N = 100) and Stage III Grade B/C periodontitis patients (N=100) based on clinical and radiographic examination were included in this research. Clinical attachment level, probing depth, bleeding on probing, plaque and gingival indices of the subjects were measured. Genotyping of IL-1A (rs1800587), IL-1B (rs1143634) and VDR (rs731236) polymorphisms was conducted by Real Time PCR. Allelic and genotypic distributions of IL-1A (rs1800587) gene polymorphism were not associated with periodontitis (p>0.05). In IL-1B (rs1143634) gene polymorphism, the C allele was detected more frequently in healthy individuals compared with the periodontitis patients (p=0.045). CC genotype and C allele in VDR (rs731236) gene polymorphism was higher in periodontitis patients (p=0.031, p=0.034, respectively). In comparison with Grade B periodontitis patients and healthy subjects, CC genotype and C allele were observed more frequently in the Grade B periodontitis in terms of alleles (C/T) and genotypes for VDR (rs731236) polymorphism (p=0.024, p=0.008, respectively). This study presents that the VDR (rs731236) polymorphism are associated with enhanced susceptibility to Stage III periodontitis in the Turkish population. Furthermore, VDR (rs731236) polymorphism may be used as an identification criteria to discriminate Grade B and Grade C in Stage III periodontitis.

Endoplasmic reticulum aminopeptidase-1 (ERAP1) polymorphic changes cause autoimmunity. To understand the contribution of ERAP1 to the occurrence of rheumatoid arthritis (RA) disease, we investigated the relationship between ERAP1 and RA.

Introduction: Familial Mediterranean Fever (FMF) is a disease with recurrent fever, characterized by painful, noninfectious inflammation of the serous membranes. It mostly affects Armenians, Turks, Arabs and Jews. Prolonged inflammation in FMF may lead to atrial fibrosis which can cause the deterioration of atrial conduction time and refractory periods of atrial myocardium.In the present study we aimed to assess atrial conduction time in children with FMF.Methods: The study included 36, children diagnosed with FMF(17 males/19 females, 13 (7-15) years) and 20 control(7 males/13 females, 11 (9-16) years) cases in our Pediatric Outpatient Clinic between October 2015 and October 2016. Tissue Doppler Echocardiography (TDE) measurements of intra-and interatrial electromechanical delay were done. P wave dispersion (Pdisp) was calculated from the 12-lead electrocardiogram.Results: Inter-atrial (Lateral PA– Tricuspid PA) and Intra-left (Lateral PA-Septal PA) atrial electromechanical delay were significantly longer in FMF patients (P lt;0.001,respectively). (PA: the time range between the beginning of the P wave in the surface electrocardiogram and the beginning of the tissue Doppler late diastolic wave A). Also, P-wave dispersion (Pdisp) were significantly higher in FMF patients( p= 0.002).Conclusions: This study shows that atrial electromechanical delay and Pdisp are prolonged in children with FMF. We recommend that atrial conduction time be measured for children diagnosed with FMF.

The aim of this study is to examine the predictor relationships between the satisfaction sport science students obtain from communication with lecturers and their organizational identification. Moreover, the study aims to determine whether there is a difference in both dependent variables in terms of gender, grade, whether they like their educational department, desire to change their department, establishment of out-of-class communication with lecturers, and being in active communication with lecturers in class. In this study, quantitative correlational techniques are used. Our sample comprised 252 (x¯ age = 21.39 ± 2.16) sport science students (127 female; 125 male). The “Student Communication Satisfaction Scale” developed by Goodboy, Martin, and Bolkan (2009) and adapted to Turkish by Akın, Yalnız, and Kazaz (2015) was used as a data collection tool, as was the “Organizational Identification Scale” developed by Mael and Ashforth (1992) and adapted to Turkish by Tak and Aydemir (2004). Parametric data was analyzed using Pearson correlation analysis, simple linear regression analysis, 2 × 2 MANOVA, and two-way ANOVA. Nonparametric data was analyzed using the Kruskal-Wallis H statistical test technique. The results indicate a strong and positively oriented relationship between the communication satisfaction and organizational identification of sport science students. Moreover, it is seen that communication satisfaction is a crucial predictor of organizational identification. According to our data, females’ communication satisfaction and identification levels are much higher than those of males. Students’ like or dislike of the department where they receive an education and the quality and form of communication they have established with lecturers result in significant differences in both dependent variables.

BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group. LIMITATIONS: Amyloidosis, an important complication of the disease, needs to be analyzed. CONFLICT OF INTEREST: None.

Blau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind™AIPassay. NGS analysis showed 107 variants in in the index case, mainly benign with no strong association with Blau syndrome. Additionally, we identified one very rare missense mutation in NOD2 gene (c2803G>A, p.Val935Met) and in silico assessment of the mutation indicated possible pathogenic significance and strong association with Blau syndrome. In addition, we analyzed family members of the index case and identified the same mutation in NOD2 gene. The segregation analysis shows the presence of the same mutant allele in NOD2 gene in the index case affected sister, as well as in her son with arthralgia, while in her non affecter brother we didn’t detect the Val935Met mutation in NOD2 gene. Blau Syndrome is known as a very rare disease, mainly caused by mutations in NOD2 gene. Missense mutation diagnosed in our case could be responsible for the phenotype of the index case. Our results indicate the importance of NGS testing and its major role in the detection of rare mutations that may responsible for the onset of autoinflammatory disorders.

Introduction: The non-invasive prenatal diagnosis of the fetus RhD genotype in RhD incompatibility has a crucial role in the prevention of increased anti-D immunoglobulin therapy for haemolytic diseases in pregnant women carrying RhD negative fetus. It was aimed to detect fetal RhD genotyping by using maternal circulating cell-free DNA in the current study.Methods: Maternal blood samples were collected in different trimester of pregnancies (12-40 weeks) in 12 D-negative mothers. Cell-free fetal DNA was extracted from 2 ml of maternal plasma by an conventional DNA isolation technique (Qiagen, Hilden, Germany) and real-time PCR was performed for genotyping target RhD exons 7 and 10 and GLO genes. Postnatal serological evaluations were performed and the results were confirmed.Results: 6 cases (50 %) were determined D positive and 6 cases (50 %) were determined D negative. All results were also confirmed after birth serologically. Conclusions: In conclusion, the current results showed us the non-invasive target RhD genotyping from cell free fetal DNA from maternal plasma samples have a diagnostic accuracy in RhD incompatibility pregnancies.

Background: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was to report cytogenetics and molecular characterization of a mental and motor retarded boy with short arm of chromosome 8 rearrangements [invdupdel(8p)] in this current case report. Subjects and methods: We report an 11-year-old boy with scoliosis, intellectual disability, mental-motor retardation and characteristic facial features. Agenesis of corpus callosum was detected with brain Magnetic Resonance Imaging (MRI) analysis. Derivative chromosome 8 structure was identified after conventional cytogenetics – karyotype analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) and Microarray-based Comparative Genomic Hybridization (aCGH) techniques. Genotype-phenotype correlation in the current proband case will be discussed. Results: Case was diagnosed as 46, XY, der (8), del (8) (p23.1) invdup (8) (p11.1-p23.1) by using advanced comparable techniques. Subtelomeric MLPA analysis showed deletion of FBXO25 gene which is located at 8p23.3 locus and FISH with subtelomeric probes for 8p shows also only deleted region. The microarray-CGH profilling showed 7,9 mb deletion for 8p23.1 and 31 mb duplication for 8p11.1 locuses. Conclusion: Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. Keywords: Chromosomal rearrangement, Corpus callosum, İnvdupdel(8p), Array-CGH, MLPA

Introduction: The present study aimed to evaluate macular and choroidal thicknesses in children with MEFV gene mutations.Methods: Thirty-five children with MEFV gene mutations and 40 healthy controls were included in the study. MEFV gene profiles for the current cohort were genotyped by Pyrosequencing and direct Sanger sequencing techniques. The thicknesses of the macular and choroid of each subject’s right eye were measured using spectral-domain optic coherence tomography.Results: Mean arteriolar and venular diameters were 95.75±11.98 µm and 127.61±10.44 µm in children with the MEFV gene mutations and 110.19±11.10 µm and 138.54±10.04 µm in control group respectively. Children with the MEFV gene mutations were found to have a significantly less mean arteriolar diameter (p lt;0.001), mean venular diameter (p lt;0.001), less macular thickness (p=0.016), and less choroidal thickness (p=0.014) compared to healthy controls. Conclusion: Children with the MEFV gene mutations had narrowing of the retinal arterioles, retinal venules, and macular and choroidal thinning. Future studies should aim to investigate endothelial dysfunction in children with Familial Mediterranean Fever by non-invasive and effective methods.

Warfarin is the most widely prescribed anticoagulant in the world. Patients who need more than 15 mg per day should be considered warfarin-resistant. Nearly 30 genes have been reported in association with warfarin pharmacogenetics but genetic polymorphisms in the genes encoding CYP2C9 and VKORC1 have been shown to act as the most important determinants of drug dosage requirements. The major enzyme responsible for the metabolism of S-warfarin, the more potent of warfarin’s two stereoisomers, is CYP2C9. Warfarin inhibits vitamin K epoxide reductase (VKOR). A 30-year-old woman was referred to our clinic for pulmonary embolism. She was treated with low molecular weight heparin. The warfarin dose was titrated up to 15 mg daily but after one week, the INR (international normalized ratio) was still subtherapeutic level at 1.8. In this paper, we discuss underlying genetic polymorphisms about warfarin resistance.

We evaluated the free fatty acids differences in plasma between hyperemesis gravidarum(HG) and healthy pregnant in first trimester pregnancy.

In this study, the optimization of a low-speed wing with functional constraints is discussed. The aerodynamic analysis tool developed by the coupling of the numerical nonlinear lifting-line method to Xfoil is used to obtain lift and drag coefficients of the baseline wing. The outcomes are compared with the results of the solver based on the nonlinear lifting-line theory implemented into XLFR5 and the transition shear stress transport model implemented into ANSYS-Fluent. The agreement between the results at the low and moderate angle of attack values is observed. The sequential quadratic programming algorithm of the MATLAB optimization toolbox is used for the solution of the constrained optimization problems. Three different optimization problems are solved. In the first problem, the maximization of CL3/2/CD is the objective function, while level flight condition at maximum CL3/2/CD is defined as a constraint. The functional constraints related to the wing weight, the wing planform area, and the root bending moment are added to the first optimization problem, and the second optimization problem is constructed. The third optimization problem is obtained by adding the level flight condition and the available power constraints at the maximum speed and the level flight condition at the minimum speed of the baseline unmanned air vehicle to the second problem. It is demonstrated that defining the root bending moment, the wing area, and the available power constraints in the aerodynamic optimization problems leads to more realistic wing planform and airfoil shapes.

Ömer Başay,1 Burge Kabukcu Basay,1 Huseyin Alacam,2 Onder Ozturk,1 Ahmet Buber,1 Senay Gorucu Yilmaz,3 Yılmaz Kıroğlu,4 Mehmet Emin Erdal,5 Hasan Herken2 1Department of Child and Adolescent Psychiatry, Faculty of Medicine, Pamukkale University, Denizli, 2Department of Psychiatry, Faculty of Medicine, Pamukkale University, Denizli, 3Department of Nutrition and Dietetics, Faculty of Health Sciences, Gaziantep University, Gaziantep, 4Department of Radiology, School of Medicine, Pamukkale University, Denizli, 5Department of Medical Biology and Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey Objective: To investigate the neurometabolite level changes according to synapsin III gene rs133945G>A and rs133946C>G polymorphisms by using magnetic resonance spectroscopy (MRS) in patients with attention-deficit hyperactivity disorder (ADHD).Methods: Fifty-seven adults diagnosed with ADHD were recruited for the study. The participants were examined by single-voxel 1H MRS when medication naïve and 30 minutes after oral administration of 10 mg methylphenidate (Mph). Those who had been on a stimulant discontinued the medication 48 hours before MRS imaging. Spectra were taken from the anterior cingulate cortex, dorsolateral prefrontal cortex, striatum, and cerebellum, and N-acetylaspartate (NAA), choline, and creatine levels were examined. For genotyping of the synapsin III gene polymorphisms, DNA was isolated from peripheral blood leukocytes. The effects of age, sex, and ADHD subtypes were controlled in the analyses.Results: After a single dose of Mph, choline levels increased significantly in the striatum of rs133945G>A polymorphism-GG genotypes (P=0.020) and NAA levels rose in the anterior cingulate cortex of rs133946C>G polymorphism-CG genotypes (P=0.014). Both rs133945G>A and rs133946C>G polymorphisms were found to statistically significantly affect the alteration of NAA levels in response to Mph in dorsolateral prefrontal cortex with two-way repeated measure of analysis of variance. Post hoc comparisons revealed a significant difference between CG and GG genotypes of rs133946C>G polymorphisms after Bonferroni adjustment (P=0.016).Conclusion: Synapsin III gene polymorphisms may be affecting the changes in neurometabolite levels in response to Mph in adult ADHD patients. Future studies are needed to confirm our findings. Keywords: adult ADHD, magnetic resonance spectroscopy, N-acetylaspartate, genotype

Burge Kabukcu Basay,1 Ahmet Buber,1 Omer Basay,1 Huseyin Alacam,2 Onder Ozturk,1 Serkan Suren,3 Ozlem Izci Ay,4 Cengizhan Acikel,5 Kadir Agladioglu,6 Mehmet Emin Erdal,4 Eyup Sabri Ercan,7 Hasan Herken21Child and Adolescent Psychiatry Department, Pamukkale University Medical Faculty, Denizli, 2Psychiatry Department, Pamukkale University Medical Faculty, Denizli, 3Medical Park Samsun Hospital, Samsun, 4Medical Biology and Genetics Department, Mersin University Medical Faculty, Mersin, 5Biostatistics Department, GATA (GMMA), Ankara, 6Radiology Department, Pamukkale University Medical Faculty, Denizli, 7Child and Adolescent Psychiatry Department, Ege University Medical Faculty, Izmir, TurkeyIntroduction: In this article, the COMT gene val158met polymorphism and attention-deficit hyperactivity disorder (ADHD)-related differences in diffusion-tensor-imaging-measured white matter (WM) structure in children with ADHD and controls were investigated.Patients and methods: A total of 71 children diagnosed with ADHD and 24 controls aged 8–15 years were recruited. Using diffusion tensor imaging, COMT polymorphism and ADHD-related WM alterations were investigated, and any interaction effect between the COMT polymorphism and ADHD was also examined. The effects of age, sex, and estimated total IQ were controlled by multivariate analysis of covariance (MANCOVA).Results: First, an interaction between the COMT val158met polymorphism and ADHD in the right (R) cingulum (cingulate gyrus) (CGC) was found. According to this, valine (val) homozygote ADHD-diagnosed children had significantly lower fractional anisotropy (FA) and higher radial diffusivity (RD) in the R-CGC than ADHD-diagnosed methionine (met) carriers, and val homozygote controls had higher FA and lower RD in the R-CGC than val homozygote ADHD patients. Second, met carriers had higher FA and axial diffusivity in the left (L)-uncinate fasciculus and lower RD in the L-posterior corona radiata and L-posterior thalamic radiation (include optic radiation) than the val homozygotes, independent of ADHD diagnosis. Third, children with ADHD had lower FA in the L-CGC and R-retrolenticular part of the internal capsule than the controls, independent of the COMT polymorphism.Conclusion: Significant differences reported here may be evidence that the COMT gene val158met polymorphism variants, as well as ADHD, could affect brain development. ADHD and the COMT polymorphism might be interactively affecting WM development in the R-CGC to alter the WM connectivity in children with val homozygote ADHD.Keywords: neuroimaging, attention deficit, hyperactivity, catechol-O-methyltransferase

We study the existence and nonexistence of nonoscillatory solutions of a two-dimensional systemof first-order dynamic equations on time scales. Our approach is based on the Knaster and Schauder fixed point theorems and some certain integral conditions. Examples are given to illustrate some of our main results.

In Recent studies underline the fact that adolescents are, at many times, likely to experience serious communication problems with their families and close environments. So, the aim of this study is to determine positive impact of sport-related games, which are performed as extracurricular activities, on high school students’ communication skills. In the study, pre, & post-tests was utilized with the control group’s experimental patterns. Two participant groups were made up of totally 30 high school students, 15 of whom would be in the experimental group and the rest of whom were in the control group. The former group was given sport- related 20 applications for 10 weeks during which the latter group would not deal with any extracurricular activities. Meanwhile, before and after the applications, data was collected by means of “The Communication Skills Scale” which was developed by Korkut (1996) and then analysed through “two-way ANCOVA” test techniques. Results clarify that the considerable gap in scores of the students’ pre, & post-tests perception concerning their communication skills are clearly attributed to sport-related games and it was also established that scores of the students in the experimental group were meaningfully higher than ones in the control group. However, perception of communication skills in the both groups was not significantly different by sex of the students. Moreover, the common effect of sex and participation on sport- related games was not found statistically meaningful in terms of communication skills. Consequently, it could be said that sport-related games impact positively communication skills.

BACKGROUND AND OBJECTIVES: Psoriasis is a common autoimmune-mediated chronic, inflammatory skin disease. Although, the molecular mechanism is not completely understood, psoriasis is caused by genetic and non-genetic parameters. The current study aimed (1) to define genotype and allele frequency of endothelial nitric oxide synthase (eNOS Glu298Asp) gene polymorphism in hypertensive and/or non-hypertensive psoriatic patients (2) to investigate the possible relationship between the eNOS Glu298Asp polymorphism and the risk of hypertension among psoriatic patients in the Turkish population. DESIGN AND SETTINGS: This cross-sectional, case-control study was performed between March 2010 and November 2012 at the University hospital in Çanakkale, Turkey PATIENTS AND METHODS: Gene profiles of 75 psoriatic patients (21 hypertensive and 54 normotensive patients) and 55 healthy (normotensive and non-psoriatic) volunteers were compared. Peripheral blood-EDTA samples were used for total genomic DNA isolation and genotyping. Target eNOS gene was genotyped for patients and control groups by real-time PCR melting-curve analysis system (LightCycler 2.0, Roche, Germany, and results were compared statistically. RESULTS: An increased T allele frequency in eNOS Glu298Asp single-nucleotide polymorphism (SNP) was determined in psoriatic patients when compared with normotensive non-psoriatic healthy volunteers (OR 2.3, CI 1.14–3.99), (P=.017). The T allele frequency was also found to be increased in hypertensive psoriatic patients when compared with healthy volunteers (4.83-fold increased, 95% CI 1.62–14.43 ([P=.003]) and normotensive psoriatic patients (3.03-fold increased, 95% CI 1.03–8.94 [P=.041]), respectively. CONCLUSION: The current preliminary results suggested that there was a correlation between eNOS Glu298Asp polymorphism and hypertension among psoriatic patients in the Turkish population. The T allele frequency of eNOS Glu298Asp SNP was different in hypertensive psoriatic patients, and the difference was statistically significant when compared with the normotensive psoriatic patients and healthy controls. These results need to be confirmed by large-scale studies.

Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by ZP3(Zona pellucida3) gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. UPK3B(Uroplakin 3B), a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b(UPK1B), one of the major conserved urothelium membrane proteins. We herein report two cases presenting with the deletions encompassing POMZP3, UPK3B, ZP3, POM121 and POM121C genes. Case1: 25-year-old female presented to our clinic with recurrent pregnancy loss. After clinical and cytogenetic evaluation, which all of them do not feature, she was diagnosed as the deletion of POMZP3 and UPK3B genes with the array-CGH platform. (Agilent SurePrintG3 HumanCGH 60K) Case2: Ten-week embrio of 34-year-old female, infertile for ten years before and this is her first pregnancy after IVF, revealed the deletion of POM121,POM121C and ZP3 genes with the same array-CGH platform. Conclusion: We have evaluated the deletion of two consecutive genes -UPK3B and ZP3- in the genome by array-CGH analysis. Early abortion or infertility due to triploidic, tetraploidic embryos or uniparental disomy, resulting in a change in the structure of the zona pellucida with the mutations of ZP3 gene, may occur. Also mutations of UPK3B gene may cause abortion or infertility due to endometrial origin with defective function of the urothelium membrane proteins. ICSI could be a good choice for ZP3 deficient infertile woman and if PGS choosen without ICSI, uniparental disomia should be excluded.

Background and Objectives: Because subclinical thyroid dysfunction may be a risk factor for cardiovascular disease, we evaluated the atherosclerosis tendency in subclinical hypothyroid (SCH) patients. Patients and Methods: Fifty-three subclinical hypothyroid patients (serum thyrotropin [TSH] concentrations >4.12 mU/L) were compared with a control group of 50 euthyroid subjects whose age, sex and body mass indices were similar to the patient group. We tested whether serum TSH concentrations were correlated with plasma total homocysteine concentration (tHcy), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC) and triglycerides (TG). Results: There was a significant statistical difference between the patient and control groups for normal free T4 (1.02±0.17 vs. 0.86±0.13, P< .001), TSH (1.64±1.02 vs. 6.62±2.61, P< .001), TC (185±39 vs. 206±42, P=.01),TG (103±54 vs. 132±85, P=.04), LDL-C (114±33 vs. 127±36, P=.04), and TC/HDL-C (3.81±106 vs. 4.19±1.02,P=.04), respectively. No statistically significant difference was found between the two groups for HDL-C, VLDL- C, LDL-C/HDL-C, and tHcy. Serum TSH was significantly correlated with plasma tHcy (r=0.55; P=.001), TC (r=0.52; P=.001), LDL-C (r=0.49; P=.001), TC/HDL-C (r=0.38; P=.002) and LDL-C/HDL-C (r=0.36; P=.004) across all participants. Conclusion: Our study suggests that the atherogenicity of SCH is not mediated by hyperhomocysteinemia. Associated hyperlipidemia may explain the observed increased risk of coronary artery disease in patients with SCH.

Background: To compare the clinicopathological characteristics of nonmetastatic breast cancer patients with and without BRCA variations and to investigate the impact of BRCA variations on prognosis., Methods: This retrospective single-center study involved an analysis of 938 patients with localized or locally advanced breast cancer who underwent BRCA variation testing. The patients were divided into three groups: 757 were without BRCA variation, 64 were with BRCA1 variation, and 117 were with BRCA2 variation., Results: In patients with BRCA1 variation, the Ki67, grade, and frequency of triple-negative breast cancer were significantly higher than in patients without BRCA variation and with BRCA2 variation. The 5-year disease-free survival in patients with BRCA1 variation was significantly worse than the other two groups (without BRCA, BRCA1, and BRCA2; 87.7%, 69.9%, and 95.3%, respectively, p = 0.049). Multivariate analysis detected no significant difference between groups. The pathological complete response rates with neoadjuvant therapy were significantly better in patients with BRCA variations than those without BRCA variations (49.2% vs. 29.6%, p = 0.024)., Conclusion: Patients with BRCA1 variation had more aggressive tumor characteristics, such as higher Ki67 and higher grade. Also, triple-negative breast cancer was more common. The presence of BRCA1 variation may worsen survival outcomes. Neoadjuvant treatment responses of patients with BRCA variations were significantly better, and neoadjuvant treatment may contribute to survival outcomes in nonmetastatic patients with BRCA variations., (© 2024 University College London (UCL) and John Wiley & Sons Ltd.)

Background: This study aimed to establish risk groups on the basis of CPS-EG scores, independent of pCR status, in triple-negative breast cancer (TNBC) patients receiving neoadjuvant chemotherapy (NACT) to identify the prognostic impact of the CPS-EG score., Methods: Patient characteristics included age, menopausal status, clinical stage, pathological stage, estrogen receptor (ER) expression, nuclear grade, Ki-67 proliferation index, residual cancer burden (RCB) score, HER2 status, and other tumor characteristics. The CPS-EG scoring system included clinical stage, pathological stage, ER status, and grade. Patients were divided into two groups on the basis of their CPS-EG scores ≤ 3 and > 3., Results: A total of 148 patients who were diagnosed with TNBC and treated with NACT were included in the study. A total of 52.0% of the patients had a CPS-EG score of ≤ 3, whereas 48.0% had a score of > 3. The rate of patients who achieved pCR was 29.7% (n = 44). CPS-EG score (HR: 2.331; 95%CI; 1.179-4.608; p = 0.015), pCR (HR: 0.348; 95%CI; 0.144-0.844; p = 0.019), pre-treatment mKi-67 proliferation index (HR: 0.467; 95%CI; 0.251-0.871; p = 0.017), and RCB score (HR: 0.401; 95%CI; 0.174-0.923; p = 0.032) were identified as significant prognostic factors for 5-year DFS. For 5-year OS, significant prognostic factors were CPS-EG score (HR: 2.30; 95%CI; 1.036-4.799; p = 0.040) and pre-treatment mKi-67 proliferation index (HR: 0.484; 95%CI; 0.246-0.954; p = 0.036)., Conclusions: The CPS-EG score, pre-treatment mKi-67 level, and the pCR and RCB score were practical prognostic markers for long-term survival. Conversely, the prognostic significance of pCR status was diminished, particularly in predicting OS. These findings underscore the importance of not only post-treatment pathological staging but also the initial tumor stage and biological characteristics of the tumor in predicting ultimate survival outcomes following neoadjuvant chemotherapy in TNBC patients., (© 2024. The Author(s).)

Background/Objectives: This study aimed to examine intra- and inter-rater reliability of a myotonometer (MyotonPRO) in measuring upper and lower extremity mechanical properties in children with spinal muscular atrophy types I and II. Methods: Biceps brachii, triceps brachii, rectus femoris, and gastrocnemius muscle tone and stiffness in children ( n = 21) were measured using the MyotonPRO device. Examiner 1 performed two sets of measurements in 60 min to determine intra-rater reliability. Examiner 2 performed measurements between Examiner 1's sets. Intra-interclass correlation coefficient, minimal detectable change, and standard error of measurement values were calculated to assess intra- and inter-rater reliabilities in this cross-sectional study. Results: The results showed excellent intra- and inter-rater reliability analyses for frequency and stiffness values except for the stiffness value of the gastrocnemius muscle, which presented good reliability (ICC = 0.71). Minimal detectable change values ranged from 0.59 to 1.98 Hz for muscle tone and 16.08 to 124.74 N/m for stiffness (for both intra- and inter-rater reliabilities). Conclusions: Our findings indicate that MyotonPRO is a reliable tool for quantifying upper and lower extremity mechanical properties within one session in children with spinal muscular atrophy types I and II. Mechanical properties of the extremity muscle can be determined using this easily applied tool in future studies.

Background: Currently, the combination of cyclin-dependent kinase 4/6 (CDK4/6) inhibitors and endocrine therapy is a first-line treatment for hormone-receptor-positive and HER2-negative metastatic breast cancer. This study aimed to assess the impact of changes in Mean Corpuscular Volume (MCV) on predicting responses to treatment and survival in patients with hormone-receptor-positive, HER2-negative metastatic breast cancer receiving CDK4/6 inhibitors and endocrine therapy., Methods: Retrospectively, data on hemoglobin levels, MCV, B12, folate levels, and survival times were collected from 275 patients. Patients were categorized into two groups based on the degree of MCV change (delta MCV ≤ 10 vs. >10). Kaplan-Meier survival analysis was performed, with significance set at p < 0.05., Results: The average age of the patients was 56.1 ± 12.1 years. In total, 72.7% received CDK4/6 inhibitors as first-line treatment, while 27.3% received them as second-line treatment. Before CDK4/6 inhibitor use, the median MCV level was 87.7 fL (IQR: 83-91), which increased to 98 fL (IQR: 92-103) after treatment ( p < 0.001). ECOG performance score, CDK4/6 inhibitor treatment line, type of endocrine therapy, and MCV change were identified as independent predictors of progression-free survival in the Cox regression model. The median progression-free survival for the entire group was 28 months. Patients with MCV delta > 10 had a median progression-free survival of 33 months, compared to 23 months for those with MCV delta ≤ 10 ( p = 0.029). There was no significant difference in median overall survival times between the two groups ( p = 0.158)., Conclusion: This study highlights that patients with MCV delta > 10 had longer median progression-free survival compared to those with MCV delta ≤ 10.

Background: No consensus is obtained regarding the effects of remnant-preserving ACL reconstruction on long-term clinical and proprioceptive outcomes. This study aimed to compare proprioceptive and clinical outcomes of the knee joint after ACL reconstruction with two different lengths of preserved remnant tissue., Methods: This study included 61 patients who underwent single-bundle ACL reconstruction with remnant preservation method using hamstring autograft, divided into two groups according to the length of the remnant tissue. Group ≤33% included subjects with equal and less than 1/3 of the remnant preserved (n = 30) and group >33% included subjects with more than 1/3 of the remnant preserved (n = 31). Proprioception was evaluated at 20°, 50°, and 70° knee angles. Clinical outcome measures included Tegner activity scale, Lysholm knee score, single-leg-hop test, and muscle strength of quadriceps femoris and hamstring muscles which was evaluated using Biodex dynamometer. Anterior laxity was determined with a KT2000 arthrometer. A statistical comparison of the assessments was performed., Results: The mean follow-up time after surgery were 28.33 and 33.67 months for group ≤33% and >33%, respectively. No significant differences were detected for Lysholm and Tegner scores between the groups (p > 0.05). Additionally, proprioception and muscle strength values displayed similarity between the groups (p > 0.05). The length of the remnant tissue did not affect post-operative knee stability (p > 0.05)., Conclusion: Patients who underwent remnant-preserving ACL reconstruction obtained similar proprioceptive function, muscle strength, anterior stability, and clinical results regardless of the amount of preserved tissue length at short-term assessment., Competing Interests: Declaration of competing interest None., (Copyright © 2024 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.)

Objective: Heart failure is a leading cause of death and the most common diagnosis leading to hospitalization. Its awareness is lower than that of other cardiovascular diseases, both in the general population and among patients with heart failure (HF). This study aimed to establish the current level of knowledge about HF in patients with HF with reduced ejection fraction (HFrEF) and mildly reduced ejection fraction (HFmrEF) in Türkiye., Methods: This questionnaire-based survey study is multicenter, conducted across 34 centers from December 2021 to July 2022. We performed a survey consisting of two sets of questions focusing on individual characteristics of the patients and HF-related knowledge., Results: The study included a total of 2,307 outpatient HF patients, comprising 70.5% males and 29.5% females with a mean age of 64.58 ± 13 (56-74) years and a mean body mass index value of 32.5 ± 10 kg/m2. HFrEF and HFmrEF were determined in 74.7% and 25.3% of patients, respectively. Thirty percent of the patients were unaware that they had HF. While 28.7% of the patients thought that they had sufficient information about HF, 71.3% believed they lacked adequate knowledge. In the study, 25.2% of the participants identified dyspnea, 22% identified tiredness, and 25.4% identified leg edema as the most common symptoms of HF. Only 27.4% of patients recognized all three typical symptoms of HF., Conclusion: We found that the study population's knowledge about HF symptoms and the nature of the disease was poor. Educational and awareness activities are necessary to optimize outcomes and benefits.

Femtosecond high-intensity laser pulses at intensities surpassing 10 14 W/cm 2 can generate a diverse range of functional surface nanostructures. Achieving precise control over the production of these functional structures necessitates a thorough understanding of the surface morphology dynamics with nanometer-scale spatial resolution and picosecond-scale temporal resolution. In this study, we show that single XFEL pulses can elucidate structural changes on surfaces induced by laser-generated plasmas using grazing-incidence small-angle X-ray scattering (GISAXS). Using aluminium-coated multilayer samples we distinguish between sub-picosecond (ps) surface morphology dynamics and subsequent multi-ps subsurface density dynamics with nanometer-depth sensitivity. The observed subsurface density dynamics serve to validate advanced simulation models representing matter under extreme conditions. Our findings promise to open new avenues for laser material-nanoprocessing and high-energy-density science.

Introduction: Many chronic spontaneous urticaria (CSU) patients have highly stressful life events and exhibit psychiatric comorbidities. Emotional stress can cause or exacerbate urticaria symptoms by causing mast cell degranulation via neuromediators., Objectives: To investigate the frequency of stressful life events and compare psychiatric comorbidities and serum neuromediator levels in patients with CSU who responded to omalizumab with healthy controls., Methods: In this cross-sectional study, we included 42 patients with CSU who received at least 6 months of omalizumab treatment and a control group of 42 healthy controls. Stressful life events were evaluated with the Life Events Checklist for DSM-5 (LEC-5). The Depression Anxiety Stress Scale-42 (DASS-42) was used to evaluate depression, anxiety and stress levels. Serum nerve growth factor (NGF), calcitonin gene-related peptide (CGRP) and substance P (SP) levels were measured using the enzyme-linked immunosorbent assay (ELISA) technique., Results: Twenty-six (62%) patients reported at least one stressful life event a median of 3.5 months before the onset of CSU. There were no significant differences in all three variables in the DASS subscales between the patient and control groups. Serum NGF levels were found to be significantly lower in patients with CSU (p <0.001), whereas CGRP levels were found to be significantly higher (p <0.001). There was no significant difference for SP., Conclusions: The psychological status of patients with CSU who benefited from omalizumab was similar to that of healthy controls. Omalizumab may affect stress-related neuromediator levels., Competing Interests: There are no conflicts of interest.

Sleep-related breathing disorders (SRBD) comprise obstructive sleep apnea (OSA), central sleep apnea (CSA), obesity-hypoventilation syndrome (OHS), as well as isolated sleep-related hypoxemia (ISRH), according to the recent International Classification of Sleep Disorders 3. During the last decades, there have been cumulative research reports indicating an association between the SRBD and increased cardiometabolic illness and death, as well as decreased quality of life. Notwithstanding, the results have been inconclusive, and the evidence level was not high regarding the effect of treatment for the SRBD on adverse outcomes. In the current work, we aim to give a comprehensive review of the clinical trials published from January 2022 to August 31, 2023. We highlight the heterogeneity of cardiometabolic disorders among adults with SRBD and particularly emphasize OSA management, drug therapy for OSA, positive airway pressure (PAP) therapy and cardiovascular outcomes, other effects of PAP in pregnancy and neurocognitive function, as well as the effects of surgical treatment and oral appliances. We also underline future directions in OSA management, telemonitoring, and druginduced sleep endoscopy in managing the SRBD, especially OSA. We ascertain that more studies are needed within the CSA, OHS, and ISRH research fields.

The soft-grainy microstructure of cooked egg yolk is the result of a series of out-of-equilibrium processes of its protein-lipid contents; however, it is unclear how egg yolk constituents contribute to these processes to create the desired microstructure. By employing X-ray photon correlation spectroscopy, we investigate the functional contribution of egg yolk constituents: proteins, low-density lipoproteins (LDLs), and yolk-granules to the development of grainy-gel microstructure and microscopic dynamics during cooking. We find that the viscosity of the heated egg yolk is solely determined by the degree of protein gelation, whereas the grainy-gel microstructure is controlled by the extent of LDL aggregation. Overall, protein denaturation-aggregation-gelation and LDL-aggregation follows Arrhenius-type time-temperature superposition (TTS), indicating an identical mechanism with a temperature-dependent reaction rate. However, above 75 °C TTS breaks down and temperature-independent gelation dynamics is observed, demonstrating that the temperature can no longer accelerate certain non-equilibrium processes above a threshold value., (© 2023. Springer Nature Limited.)

Ideal drug carriers feature a high loading capacity to minimize the exposure of patients with excessive, inactive carrier materials. The highest imaginable loading capacity could be achieved by nanocarriers, which are assembled from the therapeutic cargo molecules themselves. Here, we describe peptide nucleic acid (PNA)-based zirconium (Zr) coordination nanoparticles which exhibit very high PNA loading of [Formula: see text] w/w. This metal-organic hybrid nanomaterial class extends the enormous compound space of coordination polymers towards bioactive oligonucleotide linkers. The architecture of single- or double-stranded PNAs was systematically varied to identify design criteria for the coordination driven self-assembly with Zr(IV) nodes at room temperature. Aromatic carboxylic acid functions, serving as Lewis bases, and a two-step synthesis process with preformation of [Formula: see text] turned out to be decisive for successful nanoparticle assembly. Confocal laser scanning microscopy confirmed that the PNA-Zr nanoparticles are readily internalized by cells. PNA-Zr nanoparticles, coated with a cationic lipopeptide, successfully delivered an antisense PNA sequence for splicing correction of the [Formula: see text]-globin intron mutation IVS2-705 into a functional reporter cell line and mediated splice-switching via interaction with the endogenous mRNA splicing machinery. The presented PNA-Zr nanoparticles represent a bioactive platform with high design flexibility and extraordinary PNA loading capacity, where the nucleic acid constitutes an integral part of the material, instead of being loaded into passive delivery systems., (© 2023. Springer Nature Limited.)

Morton's neuroma (MN) is a compressive neuropathy of the common digital plantar nerve causing forefoot pain. Foot posture and altered plantar pressure distribution have been identified as predispoing factors, however no studies have compared individuls with different foot postures with MN. Thus, we aimed to compare the effect of MN on spatiotemporal gait parameters and foot-pressure distribution in individuals with pes planus and pes cavus. Thirty-eight patients with unilateral MN were evaluated between June and August 2021. Nineteen patients with bilateral pes planus and 19 age and gender-matched patients with pes cavus who had no prior surgery were recruited. A Zebris FDM-THM-S treadmill system (Zebris Medical GmbH, Germany) was used to evaluate step length, stride length, step width, step time, stride time, cadence, velocity, foot-pressure distribution, force and whole stance phase, loading response, mid stance, pre-swing and swing phase percentages. There were no significant differences between the groups in spatiotemporal gait parameters (p > 0.05). Patients with pes planus displayed the following results for step length (49.36 ± 8.38), step width (9.05 ± 2.12), stance phase percentage (65.92 ± 2.11), swing phase percentage (34.08 ± 2.12), gait speed (2.96 ± 0.55), and cadence (100.57 ± 8.84). In contrast, patients with pes cavus displayed the following results for step length (49.06 ± 8.37), step width (8.10 ± 2.46), stance phase percentage (64.96 ± 1.61), swing phase percentage (34.79 ± 1.60), gait speed (2.95 ± 0.65), and cadence (99.73 ± 13.81). Foot-pressure distribution values showed no differences were detected in force, forefoot, and rearfoot pressure distribution, except for midfoot force (p < 0.05). The forefoot, midfoot, and rearfoot pressure values for the pronated group were 32.14 ± 10.90, 13.80 ± 3.03, and 22.78 ± 5.10, and for the supinated group were 33.50 ± 11.49, 14.23 ± 3.11 and 24.93 ± 6.52. MN does not significantly affect spatiotemporal gait parameters or foot-pressure distribution in patients with pes cavus or pes planus., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2023 The Authors. Published by Elsevier Ltd.)