23 research outputs found
Kinky and sparse hair as an associated finding inmaternally inherited diabetes and deafness
No full textThe Valley: The Ground of Earthly Delights
No full textMy graduation project is located in the valley of Luxembourg City. During the designing of this project, Constant Nieuwenhuys’s New Babylon played a crucial role for its similarities with the valley in the city.Firstly, they both stretch all over the city, resulting in a sort of skeleton of the city for its holism. New Babylon is suspended above the already-existent ground while the valley, in a perspective, is carved into the plateaus.Secondly, the human activities inside are quite alike. New Babylon is known for its ludic characteristics which are distinct from normal utilitarian modernism buildings while the valley in Luxembourg, which is characterized by its leisure activities, is distinct from the plateaus which is characterized by its bureaucratic building, as a sign of utilitarianism.Thirdly, the last but the most important, New Babylon and the valley, which has been and is to be transformed artificially, share structural similarities, both in terms of planning and sectioning. Also, I take the sector which is a basic unit in New Babylon as a prototype to illustrate Planning and Sectioning as a way of re-depicting the valley
Secondary findings in 622 Turkish clinical exome sequencing data
No full textCES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing genetic information may be detected about diseases which have not yet emerged. ACMG guidelines recommend to report pathogenic variations in medically actionable 59 genes. In this study we evaluated CES data of 622 cases which were tested for various indications. According to ACMG recommendations 59 genes were screened for reportable variations. The detected variations were reviewed using distinct databases and ACMG variation classification guidelines. Among 622 cases 13 (2.1%) had reportable variations including oncogenetic, cardiogenetic disorders, and malignant hyperthermia susceptibility-related genes. In 15 cases (2.4%) heterozygous pathogenic and likely pathogenic variations were detected in genes showing autosomal recessive inheritance. Ten novel variations causing truncated protein or splicing defect were reported. We detected 11 variations having conflicting interpretations in databases and 30 novel variations, predicted as likely pathogenic via insilico analysis tools which further evaluations are needed. As to our knowledge this is the first study investigating secondary findings in Turkish population. To extract the information that may lead to prevent severe morbidities and mortalities from big data is a valuable and lifesaving effort. Results of this study will contrbute to existing knowledge about secondary findings in exome sequencing and will be a pioneer for studies in Turkish population
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
No full textPurpose Premature ovarian insufficiency (POI) is a heterogeneous disorder characterized by the cessation of menstrual cycles before the age of 40 years due to the depletion or dysfunction of the ovarian follicles. POI is a highly heterogeneous disease in terms of etiology. The aim of this study is to reveal the genetic etiology in POI patients. Methods A total of 35 patients (mean age: 27.2 years) from 28 different families diagnosed with POI were included in the study. Karyotype, FMR1 premutation analysis, single nucleotide polymorphism (SNP) array, and whole-exome sequencing (WES) were conducted to determine the genetic etiology of patients. Results A total of 35 patients with POI were first evaluated by karyotype analysis, and chromosomal anomaly was detected in three (8.5%) and FMR1 premutation was detected in six patients (17%) from two different families. A total of 29 patients without FMR1 premutation were included in the SNP array analysis, and one patient had a 337-kb deletion in the chromosome 6q26 region including PARK2 gene, which was thought to be associated with POI. Twenty-nine cases included in SNP array analysis were evaluated simultaneously with WES analysis, and genetic variant was detected in 55.1% (16/29). Conclusion In the present study, rare novel variants were identified in genes known to be associated with POI, which contribute to the mutation spectrum. The effects of detected novel genes and variations on different pathways such as gonadal development, meiosis and DNA repair, or metabolism need to be investigated by experimental studies. Molecular etiology allows accurate genetic counseling to the patient and family as well as fertility planning
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
No full textInterleukin-6 and interleukin-17 gene polymorphism association with celiac disease in children
No full textBackground/Aims: This study aimed to investigate polymorphisms in the genes responsible for encoding cytokines interleukin-6 (IL-6) (-572G/C) (rs1800796) and IL-17 (-197A/G) (rs2275913) in patients with celiac disease (CD). We further aimed to investigate the relationship between CD symptoms and histopathological findings and the relationship between these polymorphisms
IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease
No full textThe evaluation of genotoxic potential of ornidazole, nitroimidazole, in lymphocyte culture of patients with amebiasis
No full textThe genotoxicity study of ornidazole (ONZ) was carried out on human lymphocyte chromosomes, using sister chromatid exchange (SCE) and micronucleus (MN). Thirty-two patients with Entemoeba histolitica infection who received 1000 mg/day for 10 days were included in this study. SCE and MN were measured before and after therapy. A statistically significant increase was observed in the SCE (P < 0.001) and MN frequencies (P < 0.001) after ornidazole therapy. It was concluded that ONZ has a potential geno- and cytotoxic effect in human peripheral lymphocyte cultures. For this reason, further, detailed studies are needed to elucidate the ONZ mechanism of genotoxicity and its carcinogenic potential
Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort
No full textThis study presents the genetic etiologies other than chromosomal and methylation anomalies and comprehensive clinical evaluation and genetic data of a selected cohort of children diagnosed with short stature in the northeastern region of T & uuml;rkiye. Patients aged 0-18 years who were evaluated by a pediatric endocrinologist for short stature (height less than - 2 standard deviation score or less than 3 percentile at the time of initial presentation or at follow-up) between January 2021 and January 2024 and who underwent whole exome sequencing (WES) and/or SNP- array were retrospectively screened from the genetic laboratory result data. A copy number variation (CNV) analysis was simultaneously performed in all patients who underwent WES. In this study, 57% [16/28], 36% [10/28], and 7% [2/28] cases were due to syndromic short stature, skeletal dysplasia, and defects in the GH-IGF1 axis, respectively. Twenty-five variants affecting 23 families were identified across 20 known short stature-associated genes, including 7 novel variants. According to the American College of Medical Genetics and Genomics (ACMG) criteria, 5 of 25 variations were variants of uncertain significance and 20 were likely pathogenic/pathogenic. The diagnostic yield was 24% [18/75] and 7.3% [3/41] in patients who underwent WES and SNP- array testing, respectively. In SNP array analysis, deletions of chromosome 4p16, chromosome 15q26 and SHOX gene were found in three patients from three different families.Conclusions: This study underscores the importance of comprehensive genetic evaluation in children with syndromic and skeletal forms of short stature by identifying causative variants, including several novel mutations, across a broad range of genes. What is Known:center dot Short stature is one of the most common reasons for pediatrician visits. The widespread use of next-generation sequencing technology has increased the diagnostic accuracy of short stature-associated genetic causes.What is New:center dot This study emphasizes the significance of thorough genetic assessment in children with syndromic and skeletal short stature by revealing causal variations, including numerous new mutations, across a broad spectrum of genes
