Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

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.

Treatment Patterns and Attrition in Metastatic Renal Cell Carcinoma: Real-Life Experience from the Turkish Oncology Group Kidney Cancer Consortium (TKCC) Database.

Introduction: Despite the rapid evolution in management of metastatic renal cell carcinoma (mRCC) over the past decade, challenges remain in accessing new therapies in some parts of the world. Despite therapeutic advancements, attrition rates remain persistently high. This study aims to assess the treatment patterns and attrition rates of patients with mRCC in oncology clinics across Turkey.

Analyzing emergency department presentations linked to secondary earthquake effects.

Objective: The earthquakes that struck Türkiye on February 6, 2023, significantly impacted the province of Hatay. A portion of the patients presenting to emergency departments (ED) following the earthquake were exposed to secondary effects without experiencing direct physical trauma. This study aims to evaluate the demographic, clinical, and psychosocial characteristics of patients presenting to the ED during the early post-earthquake period due to secondary effects, as well as to examine the challenges encountered during this process.

Assessing the outcomes of subinguinal microsurgical varicocelectomy: pulling technique compared to the conventional method.

Introduction: The positive effect of varicocelectomy on sperm parameters (sperm morphology, concentration, motility) and fertility and pregnancy rates has been proven. Although various techniques have been defined for varicocele treatment, varicocelectomy with the pulling technique was first defined in 2017. The aim of this retrospective study is to compare the effectiveness and reliability of subinguinal microsurgical varicocelectomy with the "pulling" technique and conventional subinguinal varicocelectomy.

The Impact of Microenvironment and Dysplasia Types on the Prognosis of Myelodysplastic Syndrome.

Background: A detailed examination of bone marrow (BM) aspiration and biopsy can provide clues regarding the course of the disease as well as the diagnostic features of myelodysplastic syndrome (MDS).

Methods: Our aim is to reveal the histomorphological features of MDS, investigate the impact of dysplasia types on prognosis, and highlight the importance of the microenvironment.

Results: In 130 (93.

Intermittent Bleeding from the Iridocorneal Angle and Subsequent Ghost Cell Glaucoma Following Gonioscopy-Assisted Transluminal Trabeculotomy: A Case Report.

Purpose: This study aims to present a case involving intermittent bleeding from the iridocorneal angle following gonioscopy-assisted transluminal trabeculotomy (GATT) surgery, followed by the development of ghost cell glaucoma (GCG).

Methods: A 25-year-old man with a history of post-traumatic angle recession glaucoma underwent uneventful 360° GATT surgery.

Results: Two weeks after the surgery, while the reason for the incomplete resolution of hyphema remained unclear, intermittent bleeding from the iridocorneal angle and hemorrhage in the inferior vitreous were observed during the patient's follow-up examination.

Incompatibility of Lacrimal Syringing Test with Dacryoscintigraphy in Patients Undergoing Successful Dacryocystorhinostomy Surgery.

 The aim of our study was to evaluate the compatibility of lacrimal syringe test with dacryoscintigraphy (DSG) in the postoperative evaluation of external dacryocystorhinostomy (Ext-DCR) surgery.  Thirty eyes of 30 patients suffering from unilateral epiphora with discharge and showing complete obstruction on lacrimal irrigation test were included in the study. Patients with dysfunctional lacrimal pump function, revision surgery, partial obstruction, and ocular surface diseases were not included in the study.

Red cell distribution width to albumin ratio and mortality in acute pulmonary thromboembolism.

The red cell distribution width (RDW)/albumin ratio (RAR) is an inflammation-based prognostic biomarker. To date, its prognostic value in patients with pulmonary thromboembolism (PTE) has been investigated in only one study. This study aimed to assess the effect of RAR on mortality in patients with PTE.

Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Identification of a new pathogenic ASTN1 p.R517X (c.1549C>T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.

Accelerometer-measured physical activity patterns in daily life and their association with factors of sedentary behavior in people with epilepsy.

Objectives: Being physically active is important, but people with epilepsy (PWE) tend to have a sedentary lifestyle. There is limited evidence about physical activity patterns in PWE using objective measures. The aims of this study were: (1) to examine the physical activity patterns of PWE, (2) compare activity patterns between PWE in terms of drug-resistant epilepsy and medically controlled epilepsy with age- and sex-matched healthy controls; and (3) explore the association between physical activity patterns and body function and structure, activity and participation, and quality of life of PWE.

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Intellectual disability (ID) is defined as a severe impairment in reasoning, learning, and problem-solving abilities along with adaptive behavior that occurs before the age of 18 years. The present study aimed to present the clinical and genetic data of a cohort of Turkish pediatric patients diagnosed with the ultrarare (which only up to 20 cases having been reported in the relevant literature thus far) ID phenotype. A total of 29 patients from 26 different families, who were diagnosed with ultrarare ID upon whole exome sequencing (WES) analysis, were included in the study.

Serum Biomarkers IL-6 and HIF-1α in Rosacea: Assessing Their Significance in Disease Pathogenesis and Telangiectasia Formation.

Introduction: Rosacea, a chronic inflammatory disease primarily affecting the central area of the face, is a complex condition whose mechanisms are still not fully understood. However, research has indicated a positive correlation between two molecules: hypoxia-inducible factor-1α (HIF-1α) and interleukin-6 (IL-6). The levels of HIF-1α in rosacea patients have yet to be assessed.

The predictive value of the Haller index for recurrent pneumothorax risk after primary spontaneous pneumothorax.

Background: In this study, we aimed to evaluate the predictive value of the Haller index for recurrence risk in primary spontaneous pneumothorax patients.

Methods: Between January 2018 and December 2023, a total of 285 patients (260 males, 25 females; median age: 23 years; range, 17 to 35 years) with primary spontaneous pneumothorax who underwent thoracic computed tomography and followed for at least one year were retrospectively analyzed. The patients were divided into two groups as the non-recurrence group (n=170) and recurrence (n=115) group.

Tuberous Sclerosis Complex Demonstrated on 18F-FDG PET/CT.

Tuberous sclerosis complex is a rare neurocutaneous genetic disorder that can affect multiple organ systems including the skin, eyes, brain, kidneys, heart, and lungs. Herein, we report 18F-FDG PET/CT findings of brain and skin lesions, bilateral renal angiomyolipomas, and pulmonary lymphangioleiomyomatosis in a patient with tuberous sclerosis complex.

A Novel Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy.

Introduction: Pathogenic variants in several genes encoding components of the mitochondrial respiratory chain have been linked to various clinical phenotypes such as progressive cavitating leukoencephalopathy (PCL). The association between PCL, previously linked to numerous gene mutations in the literature, and the gene mutations has emerged as a recent and noteworthy discovery. PCL is generally diagnosed in symptomatic patients during the early years of life, mostly in infancy.

The histological investigation of the effects of electromagnetic radiation on rat ovaries.

People are now exposed to higher levels of electromagnetic radiation (EMR) due to the widespread use of mobile phones in recent years. The possible effects of this exposure on human health are related to EMR. It has been suggested that exposure to EMR has serious effects on reproduction.

Global Assessment of Medication Adherence: Correlational Analyses of a Brief Tool for Evaluating Medication Adherence in Patients with Severe Mental Disorders.

Background: Assessment of medication adherence of patients with severe mental disorders is an important aspect of long-term treatment. There is a need for a brief and practical tool to assess medication adherence. This study investigates the clinical, functional, and validational correlations of a short and easy-to-use tool.

Prognostic and Molecular Characterization of Metastatic Transverse Colon Cancer: Insights From a Single-Center Retrospective Study.

Introduction: Metastatic transverse colon cancer (TCC) represents a unique subset of colorectal cancer with features of both right and left colon tumors due to its distinct embryologic origin. This study retrospectively analyzes the clinical, pathological, and molecular factors influencing survival outcomes in TCC patients treated at a single center.

Methods: For this study, we reviewed the files of 372 metastatic patients and analyzed the data of 71 patients with a diagnosis of TCC in detail.

How would you like your proximal femoral nail - with a monocortical recon plate, with cable, or neat? A functional and radiological study of reverse oblique (AO/OTA 31-A3) intertrochanteric femur fractures.

Objective: Intertrochanteric femur fractures (ITFF), more so reverse oblique fractures (AO/OTA 31-A3), are the most challenging clinically, with significant morbidity and mortality. Early stable fixation should be achieved to allow early mobilization and reduce complications. This study evaluates the functional and radiological outcomes of three Proximal Femoral Nail (PFN) techniques - PFN alone, Cable + PFN, and Monocortical reconstruction plate (MRP) + PFN- in managing reverse oblique ITFF, to determine the most ideal of them.

Bevacizumab versus aflibercept with FOLFIRI after FOLFOX and bevacizumab in RAS mutant metastatic colon cancer a Turkish oncology group study.

We aimed to compare FOLFIRI and bevacizumab with FOLFIRI and aflibercept in terms of overall survival (OS), progression-free survival (PFS) and safety in patients with RAS-mutant metastatic colon cancer who progressed after first-line FOLFOX or XELOX and bevacizumab treatment. This retrospective study included 243 patients from 15 different centres in Turkey. The endpoints of the study were OS, PFS and safety and side effect outcomes.

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Background: HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the P4HTM gene.

Case Presentation: A 6-year and 11-month-old girl with early infantile epileptic encephalopathy and abnormal eye movements since the neonatal period has been presented to our clinic.

Assessment of frontal QRS-T angle in distinguishing mild and severe acute pancreatitis in emergency department: A retrospective study.

Acute pancreatitis (AP) is a disease that poses significant health risks with potential severe outcomes. Identifying markers for severity can aid in early intervention and improve prognoses. This study, conducted in the emergency department, investigates the QRS-T angle as a potential indicator of severity in patients with acute pancreatitis.