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.

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.

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.

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.

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.

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.

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.

Secondary lymphoid organs (SLOs) provide the confined microenvironment required for stromal cells to interact with immune cells to initiate adaptive immune responses resulting in B cell differentiation. Here, we studied three patients from two families with functional hyposplenism, absence of tonsils, and complete lymph node aplasia, leading to recurrent bacterial and viral infections. We identified biallelic loss-of-function mutations in encoding the lymphotoxin beta receptor (LTβR), primarily expressed on stromal cells.

Evaluation of histopathological findings in very old people (≥ 80 years old) in Turkish population.

Background: The lesions observed in very old populations exhibit a wide spectrum of characteristics. Histopathological evaluation may be necessary for accurate diagnosis in this demographic. There is limited amount of data on the histopathological evaluation of lesions in very old patients.

The long-term effects of different telerehabilitation programs on respiratory, exercise, and activity-related parameters in COVID-19 survivors: a randomized controlled trial in Türkiye.

Introduction: The long-term outcomes of different telerehabilitation gains for discharged COVID-19 patients are largely uncertain, and this point needs to be explored. This study aimed to research the effectiveness of telerehabilitation and compare the long-term results of videoconferencing-guided synchronous telerehabilitation and mobile application-guided asynchronous telerehabilitation programs, as well as determine the correlation between clinical and hemodynamic parameters.

Methods: Exercise programs including aerobic exercises, strengthening exercises, and pulmonary exercises were given to COVID-19 patients discharged from the Kartal Dr.

Efficacy of levothyroxine monotherapy in achieving clinical euthyroidism and its impact on weight loss in women with hypothyroidism and obesity.

In light of research indicating that normal TSH levels do not necessarily reflect clinical euthyroidism in hypothyroid patients, and given the patient dissatisfaction with levothyroxine (LT4) monotherapy, we evaluate the response to weight loss treatment in patients with obesity and primary hypothyroidism who are euthyroid under LT4 therapy, with a focus on weight and metabolic parameters. The retrospective study included 138 subjects with obesity (BMI ≥ 30 kg/m), 69 women with hypothyroidism on levothyroxine, and 69 age- and BMI-matched women without thyroid disease. Secondary causes of obesity, medications that may affect thyroid functions and metabolic parameters, chronic and oncological disease, pregnancy, TSH outside the reference range, follow-up periods of less than one year, and bariatric surgery were the exclusion criteria.

Real-world data on direct oral anticoagulants in BCR::ABL1-negative myeloproliferative neoplasms (MPNs): a multicenter retrospective study on behalf of scientific subcommittee on MPNs for Turkish society of hematology.

BCR::ABL1-negative myeloproliferative neoplasms (MPNs) pose a substantial risk of thrombosis, leading to significant morbidity and mortality. Anticoagulant therapy, historically based on vitamin K antagonists (VKAs), has limitations in preventing recurrent thrombotic events and managing bleeding complications. Direct oral anticoagulants (DOACs) offer a potential alternative with improved pharmacokinetics and compliance.

Regional variations in psoriatic arthritis: Insights from a nationwide multicenter analysis in Türkiye.

Objectives: The study aimed to investigate and compare clinical features, disease activity, and the overall disease burden among psoriatic arthritis (PsA) patients across seven distinct geographic regions in Türkiye.

Patients And Methods: A multicenter cross-sectional study involving 1,134 PsA patients from 25 referral centers across seven regions was conducted. Demographic and clinical characteristics, comorbidities, joint involvement, extra-articular manifestations, and disease activity measures were evaluated across regions.

Paraganglioma With Intracranial Invasion Demonstrated on 68Ga-DOTATATE PET/CT.

68Ga-DOTATATE PET/CT demonstrates superior sensitivity compared with other cross-sectional and functional imaging techniques in detecting head and neck paragangliomas. It is the primary recommended imaging modality for the evaluation of head and neck paragangliomas, especially in patients suspected of having locally aggressive, multifocal, or metastatic disease, as well as those being considered for targeted peptide-receptor therapy. Herein, we demonstrate the 68Ga-DOTATATE PET/CT findings of a skull base paraganglioma with extensive local invasion and intracranial extension.