Approximate Solution of Volterra-Stieltjes Linear Integral Equations of the Second Kind with the Generalized Trapezoid Rule

The numerical solution of linear Volterra-Stieltjes integral equations of the second kind by using the generalized trapezoid rule is established and investigated. Also, the conditions on estimation of the error are determined and proved. A selected example is solved employing the proposed method

Stress analysis of a pre-stretched orthotropic plate with finite dimensions

In this study, we analyze the influence of initial stress and some other parameters in a system comprising a pre-stretched anisotropic plate with finite length which is on a rigid foundation. We assume that the plate-strip is made up of an orthotropic material. We develop finite element modelling for the given problem. We present some numerical results concerning the influence of initial stress, finiteness of the length of the plate, and parameters of the orthotropic material. Furthermore, we establish that the stress on the interface plane between the foundation and the plate decrease with the initial stretching of the plate.The accepted manuscript in pdf format is listed with the files at the bottom of this page. The presentation of the authors' names and (or) special characters in the title of the manuscript may differ slightly between what is listed on this page and what is listed in the pdf file of the accepted manuscript; that in the pdf file of the accepted manuscript is what was submitted by the author

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene

Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.WOS:0006247491000012-s2.0-85106573363PubMed: 3365046

Heterozygous c.1730G > C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes.Case report: A 4-year-old male patient with a very rare heterozygous c.1730G > C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results

A Hybrid-ARQ System Using Rate-Compatible Trellis Codes Designed for Rayleigh Fading

This paper presents classes of rate-compatible trellis codes designed for channels with flat, slow Rayleigh fading. The codes thus described are ﲭultiple TCM (MTCM) codes as proposed by Divsalar and Simon - i.e., codes in which multiple symbols are associated with each transition through the trellis; by applying appropriate puncturing tables to low-rate MTCM codes, we obtain families of MTCM codes, all of which can be decoded with (essentially) the same decoder.By means of computer search, several such families are designed so that each family member is at least as good as any comparable code in the literature. (ﲇood here is defined in terms of minimum time diversity and minimum squared product distance, the most important parameters for performance over Rayleigh fading channels.) A protocol to implement these rate-compatible trellis codes in a type-II hybrid ARQ format with only a low-rate feedback channel is described. Upper bounds on the resulting bit error rate are developed and the results are used to select the best adaptive code from several possibilities. Simulation results comparing the proposed scheme with fixed-rate codes of the same throughput show substantial coding gain. Finally, a protocol modification limiting the variability of the code rate over a frame is described; this modification eliminates the need for excessive buffering, with a very small effect on performanc

Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young

Objective To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion GCK-MODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values.WOS:0005911190000122-s2.0-85096309947PubMed: 3253368

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder

Elongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to ?6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM\\_018255.4 (ELP2): c.1385G?>?A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.info:eu-repo/semantics/publishedVersio

Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity

Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III gamma phenotypes with varying severity. We report on two siblings with ML III gamma bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III gamma bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III gamma in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase gamma subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase gamma subunit function.WOS:0006125934000052-s2.0-85099867170PubMed: 3350747

Evaluation of chromosomal abnormalities and common trombophilic mutations in cases with recurrent miscarriage

Background: Recurrent miscarriage (RM) is a frequent obstetric problem. Its’ pathophysiology is poorly understood. Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. Objective: To evaluate the frequency of chromosomal abnormalities and 3 common thrombophilic mutations in couples with RM. Methods: A retrospective data collection was performed for the results of the cytogenetic analysis of the couples and Methylenetetrahydrofolate Reductase (MTHFR) C677T, Factor V Leiden (FVL) G1691A and Prothrombin (PTm) G20210A mutations of the mother in 142 couples suffering from RM. Results: Prevalence of FVL, MTHFR, and PTm gene mutations were similar between cases shaving 2 or ≥3 abortions (P=0.528; P=0.233; P=0.375). In patients with FVL, MTHFR and PTm gene mutations, the OR’s of having ≥3 abortions when compared to having 2 abortions were 1.515 (95% CI: 0.414-5.552), 0.573 (95% CI: 0.228-1.441), and 2.848 (95% CI: 0.355-22.871). All cases with PTm mutation had ≥3 abortions and all abortions occurred between 6-8 gestational weeks. Conclusion: Chromosomal abnormalities and thrombophilic mutations (especially PTm) seem to have an important role in RM. Additional larger studies involving investigation of more genes that may have a role in pregnancy are needed to assess this association

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease