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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]

OBJECTIVE: No analysis of the perception of the complexity of total hip arthroplasty (THA) has been performed so far. This study aimed to evaluate the perceived complexity of the disorders faced by orthopedic surgeons in the evaluation process prior to THA. SUBJECTS AND METHODS: A three-part online survey was administered to orthopedic surgeons. In the first part, the participants were asked questions about demographic and academic knowledge, as well as their experiences with THA. In the second part, it was asked to rate the complexity of certain disorders, such as soft tissue abnormalities, ankylosis/arthrodesis, dysplastic hip, high dislocated hip, post-traumatic arthrosis, protrusio acetabuli, etc., on a scale of one to five. Perceived complexity was classified as mild if the calculated mean score was <1.67, moderate if it was between 1.67 and 3.34, and complex if it was >3.34. In the last section, the effects of perceived complexity on surgical preferences were investigated. RESULTS: THA administered for femoral neck fracture was graded as the least complex surgical challenge (mean score of 1.85±0.99), while high dislocated hip (Crowe III-IV) was scored with the highest mean score of 4.10±0.99. None of the disorders were evaluated as easy by orthopedic surgeons. Disorders of the high dislocated hip (Crowe III-IV) and protrusio acetabuli were identified as the most complicated cases by surgeons. CONCLUSIONS: Perception of complexity affected preference for surgical approach. Besides, the level of education after participating in a course related to THA may affect the preferences of orthopedic surgeons when planning an operation. [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.

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: 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.

Hepatocellular carcinoma (HCC) is the most frequent type of primary liver cancer and the third leading cause for cancer-related death worldwide. The tumor is difficult-to-treat due to its inherent resistance to chemotherapy. Antistromal therapy is a novel therapeutic approach, targeting cancer-associated fibroblasts (CAF) in the tumor microenvironment. CAF-derived microfibrillar-associated protein 5 (MFAP-5) is identified as a novel target for antistromal therapy of HCC with high translational relevance. Biocompatible polypept(o)ide-based polyion complex micelles (PICMs) constructed with a triblock copolymer composed of a cationic poly(l-lysine) complexing anti-MFAP-5 siRNA (siMFAP-5) via electrostatic interaction, a poly(γ-benzyl-l-glutamate) block loading cationic amphiphilic drug desloratatine (DES) via π-π interaction as endosomal escape enhancer and polysarcosine poly(N-methylglycine) for introducing stealth properties, are generated for siRNA delivery. Intravenous injection of siMFAP-5/DES PICMs significantly reduces the hepatic tumor burden in a syngeneic implantation model of HCC, with a superior MFAP-5 knockdown effect over siMFAP-5 PICMs or lipid nanoparticles. Transcriptome and histological analysis reveal that MFAP-5 knockdown inhibited CAF-related tumor vascularization, suggesting the anti-angiogenic effect of RNA interference therapy. In conclusion, multicompartment PICMs combining siMFAP-5 and DES in a single polypept(o)ide micelle induce a specific knockdown of MFAP-5 and demonstrate a potent antitumor efficacy (80% reduced tumor burden vs untreated control) in a clinically relevant HCC model., (© 2024 The Author(s). Advanced Materials published by Wiley‐VCH GmbH.)