Homozygous Paternally Inherited Variant in a Patient with Canavan Disease.

Introduction: Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the gene located on the short arm of chromosome 17. Clinical findings are hypotonia, progressive macrocephaly, deafness, nystagmus, blindness, and brain atrophy.

Case Presentation: A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus.

The possible role of epigenetics in the etiology of hypospadias.

Introduction: Hypospadias is a common malformation of the genitourinary system and is thought with a complex interplay between genetics and environmental factors likely contributing to its pathogenesis. This study aimed to investigate the receptor gene expressions of sex hormones, FGFR2, FGF8 and BMP7 and DNA methylations in these genes as an epigenetic mark, which may play a role in the etiology of hypospadias.

Material And Methods: The samples from the foreskin of 20 patients with hypospadias and 20 healthy children who underwent circumcision operations were collected.

A Study of FoxO1, mTOR, miR-21, miR-29b, and miR-98 Expression Levels Regarding Metabolic Syndrome in Acne Vulgaris Patients.

Background: Acne vulgaris (AV) is an inflammatory skin disease caused by the mechanistic target of rapamycin complex 1 (mTORC1). forkhead box protein (Fox) O1 is known to regulate the relationship between the mTORC1 signaling pathway and insulin resistance (IR). Increased mTORC1 signaling is known to predispose one to diseases such as insulin resistance (IR), obesity, and diabetes mellitus.

Incidence of Thromboembolism in COVID-19 Patients in Intensive Care Units: A Retrospective Cohort Analysis.

Introduction: Coronavirus disease 2019 (COVID-19) infection was declared a pandemic, causing high mortality and morbidity worldwide. It predisposes patients to both arterial and venous thromboembolism, which causes high mortality, and is one of the most serious complications of the disease.

Objective: The aim of this retrospective study was to determine the frequency of thromboembolic events in patients diagnosed with COVID-19 in the intensive care unit (ICU) and to identify the factors causing thromboembolism.

The Frequency of Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method.

This study aimed to define the copy numbers of and genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the gene and copy numbers were investigated. A total of 133 cases with the preliminary diagnosis of SMA and 113 cases with the suspicion of being an SMA carrier from independent families were analyzed by multiplex ligation-dependent probe amplification method for and gene copy numbers.

Impact of primary treatment methods on sludge characteristics and digestibility, and wastewater treatment plant-wide economics.

Biogas production from anaerobic sludge digestion plays a central role for wastewater treatment plants to become more energy-efficient or even energy-neutral. Dedicated configurations have been developed to maximize the diversion of soluble and suspended organic matter to sludge streams for energy production through anaerobic digestion, such as A-stage treatment or chemically enhanced primary treatment (CEPT) instead of primary clarifiers. Still, it remains to be investigated to what extent these different treatment steps affect the sludge characteristics and digestibility, which may also impact the economic feasibility of the integrated systems.

Investigation of Relationship Between Small Noncoding RNA (sncRNA) Expression Levels and Serum Iron, Copper, and Zinc Levels in Clinical Diagnosed Multiple Sclerosis Patients.

In our study, we aimed to investigate the relationship between microRNA (miRNA) expression levels and serum iron (Fe), copper (Cu), and zinc (Zn) levels in Multiple sclerosis (MS) patients. Total RNA was isolated from peripheral venous blood containing ethylenediaminetetraacetic acid (EDTA) of MS patients and controls. Total RNA was labeled with Cy3-CTP fluorescent dye.

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique.

Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy.

Aims: To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method.

Successful outcome following a multimodal pelvic rehabilitation program in a woman with neurogenic bladder and bowel dysfunction: A case report.

Background: Neurogenic bladder and bowel dysfunctions lead to physical, social, and emotional disability and affects one's quality of life. Initial treatment is conservative including several rehabilitation techniques such as pelvic floor muscle training, biofeedback, electrical stimulation, and posterior tibial nerve stimulation.

Objective: In this case report, a 45-year-old woman with neurogenic bladder and bowel dysfunction was presented.

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype.

 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the prognosis of SMA like , , , , , , , , , and  Seventeen patients, who came to Trakya University, Faculty of Medicine, Medical Genetics Department, with a preliminary diagnosis of SMA disease, and eight healthy controls were included in this study after multiplex ligation-dependent probe amplification analysis.

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

 Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype-phenotype correlation can be established in 15 to 30% of patients, it is difficult to obtain a correlation in most cases.  This study was aimed to investigate the genetic etiology in cases of peripheral hypotonia that could not be diagnosed using conventional methods.

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.

Clinical Implications of Chromosome 16 Copy Number Variation.

Chromosome 16 is one of the gene-rich chromosomes; however, approximately 10% of the chromosome 16 sequence is composed of segmental copies, which renders this chromosome instable and predisposes it to rearrangements via frequent nonallelic homologous recombination. Microarray technologies have enabled the analysis of copy number variations (CNV), which may be associated with the risk of developing complex diseases. Through comparative genomic hybridisation in 1,298 patients, we detected 18 cases with chromosome 16 CNV.

Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies.

Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman.

Case Report: A 30-year-old pregnant woman was referred for genetic analysis at her 25th gestational week due to foetal diaphragmatic hernia and rocker bottom feet.

Impact of primary sedimentation on granulation and treatment performance of municipal wastewater by aerobic granular sludge process.

Aerobic granules contain microorganisms that are responsible for carbon, nitrogen, and phosphorus removal in aerobic granular sludge (AGS) process in which aerobic/anoxic/anaerobic layers (from surface to core) occur in a single granule. Optimizing the aerobic granular sludge (AGS) process for granulation and efficient nutrient removal can be challenging. The aim of this study was to examine the impact of settling prior to AGS process on granulation and treatment performance of the process.

Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic > Variation.

Introduction: Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present the results of patients genetically investigated for RASopathy-related mutations in our Genetic Diagnosis Center.

Methods: The results of 51 unrelated probands with RASopathy and 4 affected relatives (31 male, 24 female; mean age: 9.

The effects of ethylparaben and propylparaben on the development and fecundity of Drosophila melanogaster.

Parabens are widely used as preservatives in pharmaceuticals, cosmetics, and food products. Ethylparaben (EP) and propylparaben (PP) are particularly preferred because of their bactericidal and fungicidal effects. Although generally described as safe compounds, many studies have reported that parabens have estrogenic and endocrine-disrupting properties.

Investigation of developmental and reproductive effects of resveratrol in .

Resveratrol is a chemical that attracts attention due to its antioxidative, anti-inflammatory, and estrogenic/antiestrogenic properties. In the present study, it was aimed to investigate developmental and reproductive effects (developmental periods, average numbers of offspring, sex ratios) of resveratrol in . Their larvae were exposed to 50, 100, and 200 μM of resveratrol.

The evaluation of risk factors leading to early deaths in patients with acute promyelocytic leukemia: a retrospective study.

Acute promyelocytic leukemia (APL) differs from other forms of acute myeloid leukemia (AML), including coagulopathy, hemorrhage, disseminated intravascular coagulation (DIC), and treatment success with all-trans retinoic acid (ATRA). Despite ATRA, early deaths (ED) are still common in APL. Here, we evaluated factors associated with ED and applicability of scoring systems used to diagnose DIC.

Clinical Features of Aberrations Chromosome 22q: A Pilot Study.

 A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. Our aim in the study was to show phenotypic variability associated with rearrangements of the 22q chromosomal region.

Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.

The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned.

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.

Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended in the updated diagnostic criteria of Tuberous Sclerosis Complex.