Eligibility of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies: cohort of cystic fibrosis registry of Türkiye.

Background: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variants are essential for determining eligibility for CFTR modulator drugs (CFTRms). In contrast to Europe and the USA, the treatment eligibility profile of cystic fibrosis (CF) patients in Türkiye is not known. In this study we aimed to determine the eligibility of CF patients in Türkiye for the CFTRms.

Survival outcomes of sentinel lymph node biopsy alone versus back-up systematic lymph node dissection in high-risk endometrial Cancer: A Turkish Gynecologic Oncology group study (TRSGO-SLN-007).

Background And Objectives: Investigate whether there is an oncological benefit of performing back up systematic lymphadenectomy in addition to bilateral sentinel node biopsy.

Methods: This multicentre retrospective study included patients with high-risk endometrial cancer treated at four gynaecological oncology clinics in Turkey between 2014 and 2023. Patients were stratified according to both conventional and ESGO risk criteria, and within each category were divided into two groups respectively "Sentinel Lymph Node Biopsy Group (SLN-only)" and "Back-up Lymphadenectomy Group (Back-up LND)".

Exploring the influence of health and digital health literacy on quality of life and follow-up compliance in patients with primary non-muscle invasive bladder cancer: a prospective, single-center study.

Objective: Given the increasing significance of digital health literacy (DHL) and health literacy (HL) in promoting informed decision-making and healthy behaviors, this study aimed to assess the influence of self-reported HL and DHL on treatment adherence and quality of life among patients who underwent transurethral resection of bladder tumors (TUR-BT) for primary non-muscle invasive bladder cancer (NMIBC).

Materials & Methods: This single-center observational study involved patients who underwent TUR-BT for NIMBC at a tertiary hospital from May 2022 to February 2024. Before the procedure, the patients' DHL and HL were evaluated using the European Health Literacy Survey Questionnaire short version and the eHealth Literacy Scale.

Evaluating postoperative complications in standard percutaneous nephrolithotomy for renal stones larger than 2 cm: a retrospective study utilizing the E-PASS scoring system.

Percutaneous nephrolithotomy (PCNL) is a widely preferred method for treating complex kidney stones, particularly in patients with larger or more complicated stones. Despite its advantages, such as minimal invasiveness and a shorter recovery time, postoperative complications can occur, thereby necessitating effective risk assessment tools to identify at-risk patients. This study evaluated the Estimation of Physiologic Ability and Surgical Stress (E-PASS) scoring system's utility in predicting postoperative complications following standard PCNL.

Real-World Clinical Effectiveness of Liraglutide for Weight Management in Türkiye: Insights from the LIRA-TR Study.

Obesity is a complicated chronic disease associated with a series of other conditions. A weight loss of 5-10% has been shown to reduce obesity-related complications and improve quality of life. The efficacy and safety of liraglutide for reducing body weight have been demonstrated in clinical trials.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs.

A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous FAN1 c.2260C>T variant.

Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic FAN1 (FANCD2/FANCI-Associated Nuclease 1) gene variants. In FAN1-related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with FAN1-related KIN in various studies.

Transcriptomic profiles in major depressive disorder: the role of immunometabolic and cell-cycle-related pathways in depression with different levels of inflammation.

Transcriptomic profiles are important indicators for molecular mechanisms and pathways involved in major depressive disorder (MDD) and its different phenotypes, such as immunometabolic depression. We performed whole-transcriptome and pathway analyses on 139 individuals from the observational, case-control, BIOmarkers in DEPression (BIODEP) study, 105 with MDD and 34 controls. We divided MDD participants based on levels of inflammation, as measured by serum high-sensitivity C-reactive protein (CRP), in n = 39 'not inflamed' (CRP < 1 mg/L), n = 31 with 'elevated CRP' (1-3 mg/L), and n = 35 with 'low-grade inflammation' (>3 mg/L).

LEP rs7799039 and LEPR rs1137101 gene variants are not associated with clinical features in patients with metabolic syndrome in the Turkish population.

Objectives: Genetic predisposition plays a role in the etiology of metabolic syndrome (MetS), an important health problem worldwide. Leptin (LEP), produced by adipose tissue, plays a crucial role in the development of MetS. In this study, we evaluated the effects of LEP and LEP receptor (LEPR) variants on clinical findings and risk of developing MetS in the Turkish population.

DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans.

Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the extent of defects in T and innate lymphoid cells (ILCs) remain unexplored. Herein, we characterized the primary T, natural killer (NK) and helper ILCs of six patients carrying two novel loss of function mutation in DIAPH1 and Jurkat cells after DIAPH1 knockdown.

DNA/BSA Binding and Antimicrobial Properties of Biguanide-Cu(II) Complexes.

The biguanide Cu(II) complexes [Cu(L)](ClO) were synthesized and spectroscopic/analytical techniques were used to clarify their structures. Single crystals of complex [Cu(L)](ClO) was obtained and its definite structure was determined by single crystal X-ray diffraction study. The complexes [Cu(L)](ClO) were screened for their FSds-DNA interactions by using UV-Vis absorption and fluorescence spectroscopies.

Design of a new porphyrin-based compound and investigation of its photosensitive properties for antibacterial photodynamic therapy.

Considering the increasing number of pathogens resistant to commonly used antibiotics as well as antiseptics, there is an urgent need for antimicrobial approaches that can effectively inactivate pathogens without the risk of establishing resistance. An alternative approach in this context is antibacterial photodynamic therapy (APDT). APDT is a process that involves bacterial cell death using appropriate wavelength light energy and photosensitizer and causes the production of reactive oxygen species inside or outside the microbial cell depending on the penetration of light energy.

Elderly and aged asthma have different characteristics: results of a multicenter study.

Background/aim: Characteristics of asthma in the elderly population is not well-known. The aim of the present study was to evaluate asthma in the elderly population, to compare disease characteristics between patients diagnosed <60 (aged asthma) and ≥60 (elderly asthma) years of age.

Materials And Methods: The study was a prospective, multicenter, cross-sectional type.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Effect of Cognitive-Behavioral Therapy-Based Anger Management Training on Anger and Aggression Levels of Individuals Convicted of Violent Crimes.

Purpose: To determine the effect of cognitive-behavioral therapy (CBT)-based anger management training on anger and aggression levels of individuals convicted of violent crimes.

Method: This study was a randomized controlled trial conducted in a prison. Seventy-two individuals who met inclusion criteria were included in the study sample.

Impact of health and digital health literacy on quality of life following radical prostatectomy for prostate cancer: prospective single-center cohort study.

Purpose: The importance of health literacy (HL) and digital health literacy (e-HL) in promoting healthy behavior and informed decision making is becoming increasingly apparent. This study aimed to assess the effects of HL and e-HL on the quality of life (QoL) of men who underwent radical prostatectomy (RP) for localized prostate cancer.

Materials And Methods: This prospective observational study included 104 patients who underwent RP for localized prostate cancer.

Expression of circulating oar-miR-485-5p and oar-miR-493-5p during the estrous cycle and early pregnancy in ovine plasma.

In the current study, we aimed to assess the expression levels of two circulating microRNAs (miRNA) (oar-miR-485-5p and oar-miR-493-5p) in the ovine plasma during the peri-implantation. After mating, we collected the plasma samples from a total of 8 ewes on day 22 of pregnancy (P22; n = 4) and day 22 of the estrous cycle (C22; n=4). We used mature miRNA sequences for oar-miR-485-5p and oar-miR-493-5p out of one hundred fifty, which were retrieved from our microarray results of previous study.