Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis.

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.

Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.

The role of radiotherapy in intracranial hemangiopericytoma/solitary fibrous tumors : A Turkish Society for Radiation Oncology Central Nervous System Tumors Group Study (TROD 07-008).

Objective: Intracranial hemangiopericytomas (HPC) are rare tumors. Radiotherapy (RT) is frequently performed after surgery, depending on tumor size, location, and the type of resection. Moreover, RT is preferred as an effective treatment for local recurrence and metastasis.

Evaluation of Triglyceride Glucose Index in Patients with Patent Foramen Ovale Who Experienced Cryptogenic Stroke.

: The prevalence of patent foramen ovale (PFO) has been found to be increased in patients with cryptogenic stroke, suggesting an association between these two clinical settings. Insulin resistance is a risk factor for the occurrence of stroke. The triglyceride glucose (TyG) index is a biomarker that reflects the IR status of the body.

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

The Effect of Sun Knowledge and Self-Efficacy on Sun Protection Behavior in Skin Cancer Among Young People.

The aim of this study is to reveal the impact of skin cancer and sun knowledge on sun protection behavior in young people. In addition, identifying predictors influencing sun protection behaviors in young people is also aimed. A cross-sectional study was conducted with 424 young people in Turkey.

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.

Methods: We performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause.

Investigation of lower urinary system symptoms in patients with isolated posterior compartment prolapsus: a cross-sectional study.

Objectives: The effects of posterior vaginal wall prolapse on pelvic floor function have not been adequately investigated, particularly for lower urinary tract symptoms (LUTS). We aimed to investigate the effects of isolated posterior compartment prolapse on LUTS.

Material And Methods: The study was conducted as a PROSPECTIVE: cross-sectional study with female patients with isolated posterior prolapse who presented with any LUTS.

The Effect of Patient Education on Pain Level and Fear of Pain in Orthopedic Surgery: A Randomized Controlled Trial.

Purpose: Patients experience pain after surgery, an expected symptom, and a common and important care problem. The purpose of the study was to determine the effect of patient education on pain level and fear of pain in orthopedic trauma patients.

Design: The study is a randomized controlled trial research design.

The Effect of Stigmatization on Diabetes Health Promotion Self-Care Behaviours and Predictors of Stigma and Self-Care Behaviours in Individuals With Type 2 Diabetes.

Background: Individuals with type 2 diabetes are at risk of delaying or not performing diabetes health promotion self-care behaviours because of their social or self-stigmatization.

Aim: The study aimed to reveal the effect of stigmatization on diabetes health promotion self-care behaviours and predictors of stigma and diabetes health promotion self-care behaviours in individuals with type 2 diabetes.

Methods: This cross-sectional study included 235 individuals with type 2 diabetes.

Association between trace elements and cognitive function among hemodialysis patients in Turkey.

Introduction: Cognitive impairment is common among patients with hemodialysis. Hemodialysis patients have theoretical risks for both deficiency and accumulation of trace elements. We aimed to investigate the relationship between cognitive dysfunction and whole blood levels of trace elements in hemodialysis patients.

Real-world data on Empagliflozin and Dapagliflozin use in patients with HEART failure: The RED-HEART study.

Aims: We aimed to determine the use of sodium-glucose cotransporter 2 inhibitors (SGLT2is) and to identify clinical factors associated with their use in patients with heart failure (HF) in a real-life setting.

Methods: Real-world data on Empagliflozin and Dapagliflozin use in patients with HEART failure: The RED-HEART study is a multicentre, cross-sectional and observational study that included HF patients in the outpatient setting regardless of ejection fraction from 19 cardiology centres between August 2023 and December 2023.

Results: The study population consisted of 1923 patients with HF, predominantly men (61.

Analyzing learning curve for supine percutaneous nephrolithotomy in urology resident training programme: comparative analysis.

Introduction: This article attempts to provide a comprehensive review of the learning objectives and importance of the supine percutaneous nephrolithotomy (PCNL) technique.

Material Method: We retrospectively reviewed the cases of Supine PCNL between January 2018 and January 2024. We divided the groups into 3: residents between 2 and 3 years (Group 1), residents between 4 and 5 years (Group 2), and endourologist (Group 3).

Female genital mutilation and urinary incontinence: an analytical comparison with Sudan's prevalent demography.

Objective: Female genital mutilation/cutting impacts over 200 million women globally and is linked to obstetric complications as well as long-term urogynecological and psychosexual issues that are frequently overlooked and inadequately addressed. This study aimed to assess the impact of female genital mutilation/cutting on urinary incontinence.

Methods: This cross-sectional study was conducted in the gynecology department of the Research Hospital located in the Nyala rural region of Sudan.

Comparison of Percutaneous Core Needle Biopsy Results in Patients Who Previously Underwent Open and Robot-Assisted Kidney Transplantation.

The objective of this study was to investigate the safety and efficacy of percutaneous graft biopsy, specifically in patients who have undergone robotic kidney transplantation, a topic that has received limited attention in the existing literature. While percutaneous graft biopsy is well established in patients who have undergone open transplantation, its application in robotic transplantation remains relatively unexplored. A retrospective analysis was conducted on patient records spanning from 2013 to 2024, focusing on those who underwent graft biopsy due to acute graft dysfunction.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience.

Objective: Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.

Methods: A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities.

Relationship of psoriatic arthritis with nail and scalp involvement in Turkish psoriasis patients: Multicentered cross-sectional study.

Psoriasis is a common multisystem inflammatory disease, and arthritis is an essential component of the disorder, requiring early diagnosis and prompt treatment for successful management. In this study, we aimed to investigate the relationship between nail and scalp involvement and other covariates with psoriatic arthritis (PsA). This cross-sectional study, conducted from June 2021 through December 2021, included 763 patients from 11 different centers in Turkey.

Heart Failure Awareness Survey in a Turkish Population: HFAS-TR.

Objective: Heart failure is a leading cause of death and the most common diagnosis leading to hospitalization. Its awareness is lower than that of other cardiovascular diseases, both in the general population and among patients with heart failure (HF). This study aimed to establish the current level of knowledge about HF in patients with HF with reduced ejection fraction (HFrEF) and mildly reduced ejection fraction (HFmrEF) in Türkiye.

Evaluation of the prognostic value of papillary muscle-free strain in patients with hypertrophic cardiomyopathy.

Background: The prognosis of hypertrophic cardiomyopathy (HCM) varies from mild disease with a normal life expectancy to heart failure and sudden cardiac death (SCD). The identification of patients who are at high risk for SCD remains challenging.

Aims: In this study, we evaluated the prognostic value of papillary muscle-free strain in HCM patients.