Publications by authors named "Eser M"

Thiazoles serve as pharmacophores in many molecules that exhibit significant biological activity. This study used in vitro assays and in silico methodologies to identify novel medication candidates for preclinical evaluation of visceral toxocariasis treatment. The objective was to assess the impact of 11 thiazolohydrazone derivative compounds on the larval eggs of Toxocara canis.

View Article and Find Full Text PDF

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.

View Article and Find Full Text PDF

Aim: This study aims to compare the clinical outcomes of patients treated for complex anal fistulas using standard laser fistula closure (FiLaC) versus FiLaC combined with an advancement flap (+FLAP).

Methods: A retrospective review was conducted on patients treated for complex anal fistulas between January 2022 and December 2023. Treatments included standard FiLaC and FiLaC combined with an advancement flap.

View Article and Find Full Text PDF
Article Synopsis
  • The study aimed to identify genetic factors contributing to treatment-resistant nocturnal enuresis in children who had already undergone various therapies.
  • Twenty-one patients aged 5-18 with treatment-resistant enuresis were analyzed using a specialized genetic panel that included 19 genes associated with the condition.
  • Results showed that 20 patients had no significant genetic changes, while one patient had a variant in the AQP2 gene, suggesting that nocturnal enuresis is likely influenced by multiple factors rather than a single genetic cause.
View Article and Find Full Text PDF

Small cell lung cancer (SCLC) constitutes around 15% of lung cancer cases and stands as the primary cause of cancer-related fatalities in men and the second leading cause in women globally. In this study, our objective was to evaluate the levels of C-reactive protein (CRP) and procalcitonin (PCT) in newly diagnosed extensive-stage SCLC patients without evidence of infection. We aimed to demonstrate that elevated CRP and PCT levels may not solely indicate infection but could also be elevated in malignancies.

View Article and Find Full Text PDF
Article Synopsis
  • Glycemic variability (GV) is a common issue in critically ill patients, and this study explored its impact on 28-day mortality through a multicenter analysis involving 578 patients across five ICUs in Turkey.
  • The study tracked several glycemic parameters within the first 24 hours, finding significant differences in CV (coefficient of variation), SD (standard deviation), and MGD (maximal-minimal glucose difference) between survivors and non-survivors, with higher levels linked to increased mortality risk.
  • Results indicated that CV is an independent risk factor for mortality, with a strong correlation with MGD, suggesting that monitoring these glycemic metrics could be critical for predicting patient outcomes in intensive care settings.
View Article and Find Full Text PDF

Lung cancer remains a significant health challenge, characterized by aberrant tissue growth within the pulmonary system. Early carcinogenic events often involve genomic instability and the emergence of a mutator phenotype. In this study, we aimed to explore the mutator phenotype in 89 patients diagnosed with non-small-cell lung cancer (NSCLC).

View Article and Find Full Text PDF

Purpose: To evaluate the mechanical properties of the 3D printed provisional restoration material that was repaired using different materials.

Material And Methods: The bar specimens have been manufactured using three-dimensional printing technology in accordance with the ISO 10477:2020 standards and divided into 5 groups randomly. For repair material application and replacement on the standardized silicone mold, the test specimens were ground at the center by 1x2x2 mm.

View Article and Find Full Text PDF
Article Synopsis
  • * The study analyzed 30 patients using Next Generation Sequencing (NGS) and discovered genetic variants in 17 cases, with high rates of pathogenic variants found in the HNF1A gene.
  • * Genetic testing is crucial for diagnosing MODY, especially for those with early-onset diabetes and a family history of the condition, highlighting the need for awareness and comprehensive testing.
View Article and Find Full Text PDF

Objectives: The pediatric voice handicap index (pVHI) is a widely used proxy-reported outcome measure. However, its reliability values are subject to variability across studies. Accordingly, the objective of this study is to analyze the mean reliability estimation and stratified alpha coefficient of the pVHI.

View Article and Find Full Text PDF

Background: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.

Methods: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively.

View Article and Find Full Text PDF
Article Synopsis
  • - Newborn screening (NBS) primarily detects congenital adrenal hyperplasia (CAH), but its effectiveness for non-CAH primary adrenal insufficiency (non-CAH PAI) is less understood, as shown in a study examining cases from 2022.
  • - Six neonates with non-CAH PAI exhibited severe symptoms like hyperpigmentation and hypoglycemia, yet all had normal NBS results, highlighting a significant oversight in detection.
  • - The study emphasizes that clinicians must remain vigilant for adrenal insufficiency signs in neonates, regardless of normal NBS outcomes, to avoid delays in diagnosis and treatment.
View Article and Find Full Text PDF

Purpose: To evaluate the effect of food-simulating liquids (FSLs) on the mechanical properties of provisional restoration materials fabricated by 3D printing, milling, and traditional fabricating methods.

Materials And Methods: The bar specimens were fabricated with traditional, milling, and 3D-printing methods according to ISO 10477 specifications. Each group of specimens was randomly subdivided into four groups to be immersed in various FSLs: distilled water (control group), n-heptane, 50% ethyl alcohol, and 0.

View Article and Find Full Text PDF

The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS. Single nucleotide polymorphism (SNP) array and whole-exome sequencing (WES) techniques were used to determine the underlying genetic etiologies.

View Article and Find Full Text PDF

Background/aim: Multiple sclerosis (MS) is an inflammatory demyelinating central nervous system (CNS) disease. Among the paraclinical tests, brain and spinal Magnetic Resonance Imaging (MRI) is primarily involved in the diagnosis process, and cerebrospinal fluid (CSF) analysis is fundamental in diagnosing MS and the differential diagnosis. A positive relationship was demonstrated between oligoclonal band (OCB) positivity, CSF band number and immunoglobulin G(IgG) index.

View Article and Find Full Text PDF
Article Synopsis
  • The study focuses on autosomal-recessive hypophosphataemic rickets type 2 (ARHR2), a rare disease linked to ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency, often seen in survivors of generalized arterial calcification of infancy (GACI).
  • Researchers analyzed clinical, biochemical, and genetic data from 18 patients across 9 medical centers, revealing common symptoms like limb deformities and short stature, with a mean age of diagnosis at around 4.2 years.
  • Findings suggest that ARHR2 typically appears later in life than GACI; understanding previous calcifications or related health issues can aid in diagnosing ARHR2 in patients treated for
View Article and Find Full Text PDF

Objective: Afamin is a protein that increases in gestational diabetes but its concentration in neonates hasn't been investigated. Our objective is to compare cord blood afamin levels in neonates born to mothers with and without diabetes, and to explore its relationship with maternal and neonatal variables.

Methods: In this case control study, umbilical cord blood was collected for afamin measurement in pregestational/gestational diabetic pregnancies ( = 40) and healthy pregnancies ( = 45) after delivery.

View Article and Find Full Text PDF

Benzimidazole and triazole rings are important pharmacophores, known to exhibit various pharmacological activities in drug discovery. In this study, it was purposed to synthesize new benzimidazole-triazole derivatives and evaluate their antileishmanial activities. The targeted compounds (-) were obtained after five chemical reaction steps.

View Article and Find Full Text PDF

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency.

View Article and Find Full Text PDF

Highly accurate predictions from large-scale numerical simulations are associated with increased computational resources and time expense. Consequently, the data generation process can only be performed for a small sample size, limiting a detailed investigation of the underlying system. The concept of multi-fidelity modeling allows the combination of data from different models of varying costs and complexities.

View Article and Find Full Text PDF

Objective: This study aimed to investigate the triglyceride-glucose (TyG) index, which is a simple surrogate marker of insulin resistance that is associated with various cardiometabolic diseases, in patients with Klinefelter syndrome (KS).

Subjects And Methods: A total of 30 patients with KS (mean age: 21.53 ± 1.

View Article and Find Full Text PDF

Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement.

View Article and Find Full Text PDF

Blood is a vital reservoir housing numerous disease-related metabolites and cellular components. Thus, it is also of interest for cancer diagnosis. Surface-enhanced Raman spectroscopy (SERS) is widely used for molecular detection due to its very high sensitivity and multiplexing properties.

View Article and Find Full Text PDF