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.

Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed.

Comparative Value of CRP and FCP for Endoscopic and Histologic Remissions in Ulcerative Colitis.

We have previously shown that CRP < 2.9 mg/L is a better predictor of endoscopic remission (ER) than CRP < 5 mg/L in ulcerative colitis (UC). Here, we prospectively evaluate CRP and FCP cut-offs and compare them in predicting ER and histological remission (HR) in UC.

Comparative efficacy of ultrasound-guided erector spinae plane block versus wound infiltration for postoperative analgesia in instrumented lumbar spinal surgeries.

Objective: This study compared the efficacy of ultrasound-guided erector spinae plane block (ESPB) and wound infiltration (WI) for postoperative analgesia in patients who underwent lumbar spinal surgery with instrumentation.

Methods: In this randomized controlled trial, 80 patients were divided into two groups: ESPB (n = 40) and WI (n = 40). Postoperative pain intensity was assessed via the visual analog scale (VAS) at multiple time points within 24 h.

Functional and Social Recovery and Outcomes After Extracorporeal Membrane Oxygenation Support in COVID-19 Patients.

With the COVID pandemic, veno-venous (VV) extracorporeal membrane oxygenation (ECMO) was implanted in many patients around the world. Data regarding follow-up and recovery of patients who are placed on ECMO support after COVID-related acute respiratory distress syndrome (ARDS) or ARDS for any other reason are limited. In our study, we share the 1 year follow-up results and cardiopulmonary exercise test results of the discharged patients.

The efficacy and safety of isotonic and hypotonic fluids in intravenous maintenance fluid therapy in term newborns: national multicenter observational "neofluid" study.

Objective: The objective of this study was to evaluate the efficacy and safety of isotonic and hypotonic intravenous fluids in maintenance fluid therapy for term infants.

Methods: This was a multi-centre, prospective, observational study conducted in 21 participating centres from December 30, 2020, to June 30, 2023. The study included term newborns requiring parenteral fluid therapy for maintenance (NCT04781361).

Evaluation of the effect of vitreomacular interface disorders on anti-VEGF treatment in patients with diabetic macular edema in real life: MARMASIA study group report No. 10.

Purpose: The aim of this study is to investigate the effect of vitreomacular interface disorders (VMID) on treatment response in patients treated with anti-vascular endothelial growth factor (anti-VEGF) due to diabetic macular edema (DME).

Methods: Three hundred seventy-seven eyes of 239 patients in the MARMASIA Study Group who received intravitreal anti-VEGF treatment (IVT) due to DME were included in the study. The group 1 consisted of 44 eyes of the patients who had not received any treatment before, were followed up regularly for 24 months after at least a 3-month loading dose, and suffered from VMID such as epiretinal membrane, vitreomacular adhesion or traction, and lamellar hole.

Clinical and Demographic Characteristics of Treatment Requiring Retinopathy of Prematurity in Big Premature Infants in Turkiye: Report No. 1 (BIG-ROP Study).

Introduction: The aim of the study was to analyse the clinical and demographic features of infants with gestational age (GA) of 32-37 weeks and birth weight (BW) of >1,500 g who developed treatment requiring retinopathy of prematurity (ROP).

Methods: Data on the infants with a GA of 32-37 weeks and BW >1,500 g who developed treatment requiring ROP (TR-ROP) were collected retrospectively from the 33 ROP centres in Turkiye. GA, BW, type of hospital, neonatal intensive care units (NICUs) level, presence of an ophthalmologist and neonatologist in the same hospital, length of stay in NICU, duration of oxygen therapy, comorbidities, type of ROP, and timing for TR-ROP development were analysed.

Effect of Abdominal Corset on Completion of Colonoscopy and Cecal and Ileocecal Intubation Time in Patients with Central Obesity: A Prospective Randomized Controlled Trial.

Aim: This work investigated the effect of an abdominal corset on the colonoscopy completion rate, as well as cecum and ileum intubation time, total colonoscopy time, and pain score in centrally obese patients.

Methods: Patients were randomized into two groups, with 50 patients in each group. A colonoscopy was performed using the abdominal corset in Group 1 and the standard method in Group 2.

Evaluation of demographic and clinical characteristics of 728 patients with mycosis fungoides and their relationship with systemic comorbidities: multicenter, registry-based (MF-TR) study from Türkiye.

Background: Mycosis fungoides (MF) is the most common cutaneous lymphoma with a chronic disease course. MF patients may also suffer from systemic comorbidities such as cardiovascular and metabolic diseases.

Methods: In this study, we aimed to evaluate the demographic and clinical features of MF patients registered in the MF-TR registry system and to examine the relationship of these features with systemic comorbidities.

Expression of , , and genes in aortic dissection.

Thoracic aortic dissection (TAD) is a highly lethal disease occurring inside the aortic wall and is characterized by matrix degradation. Matrix metalloproteinases (MMPs) are members of a large endopeptidase family that function in the degradation of the extracellular matrix (ECM) proteins, the maintenance of the ECM, and the regulation of signaling in the aorta. MMPs are found in tissue with their natural inhibitors.

Impact of the COVID-19 Pandemic on Diabetic Foot Patients: A Shift in the Infectious Agent Profile Toward Nonfermentative Gram-Negative Bacilli.

Background: Diabetes foot infection is a very important public health problem that causes serious health problems, mortality, and high health expenditures, and is one of the most important complications of diabetes mellitus. There are concerns that approaches such as limited personal visits to doctors, avoidance of hospitals, and restrictions on nonemergency surgical procedures during the coronavirus disease of 2019 pandemic pose a threat to those with diabetic foot problems, including diabetic foot ulcers (DFUs), ischemia, and infection, resulting in increased limb loss and mortality.

Methods: This multicenter, retrospective, cross-sectional study was conducted in 14 tertiary care hospitals from various regions of Turkey.

Prostate Cancer Awareness in the Middle East: A Cross-Sectional International Study.

Purpose: Prostate cancer has emerged as a significant public health challenge in the Middle East, characterized by rising incidence rates and a concerning mortality-to-incidence ratio. Yet, despite these alarming trends, data regarding prostate cancer awareness in the region remain limited. To address this critical knowledge gap, this study investigates prostate cancer awareness within the Middle East.

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES).

Background/aim: The cause and treatment of electrical status epilepticus during sleep (ESES), one of the epileptic encephalopathies of childhood, is unclear. The aim of this study was to evaluate possible microstructural abnormalities in the brain using advanced magnetic resonance imaging (MRI) techniques in ESES patients with and without genetic mutations.

Materials And Methods: This research comprised 12 ESES patients without structural thalamic lesions (6 with genetic abnormalities and 6 without) and 12 healthy children.

Clinicopathologic Analysis and Prognostic Factors for Survival in Patients with Operable Ampullary Carcinoma: A Multi-Institutional Retrospective Experience.

In ampullary cancer, 5-year survival rates are 30-50%, even with optimal resection and perioperative systemic therapies. We sought to determine the important clinicopathological features and adjuvant treatments in terms of the prognosis of patients with operable-stage ampullary carcinomas. We included 197 patients who underwent pancreaticoduodenectomy to treat ampullary carcinomas between December 2003 and May 2019.

A novel method for the evaluation of right ventricular dysfunction in acute pulmonary embolism: Myocardial work indices.

Purpose: The presence of right ventricular dysfunction indicates a higher risk status in patients with pulmonary embolism (PE). The RV strain evaluated by speckle-tracking echocardiography seems to be more reliable method in the evaluation of RV dysfunction as compared to standard echocardiographic measures. In this study, we aimed to determine the value of myocardial-work indices in evaluating serial changes of RV function in acute PE.