Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

In-Person and Video-Based Education: Do They Affect Pressure Injury Knowledge in Nursing?

Objective: To determine how training on the nursing care of pressure injuries (PIs) affects knowledge levels and satisfaction.

Methods: This study was semiexperimental, conducted in the form of a pretest and posttest in one group of 105 nurses working in a training and research hospital. The training took place in person and via video.

Periaortic fat thickness and cardiovascular risk factors in children with congenital adrenal hyperplasia.

Objective: Children with congenital adrenal hyperplasia are considered to be at an elevated risk for cardiovascular morbidity and mortality. The objective of this study was to evaluate the association between periaortic fat thickness and the cardiometabolic profile in children diagnosed with congenital adrenal hyperplasia.

Method: A total of 20 children and adolescents with congenital adrenal hyperplasia and 20 healthy control subjects were enrolled in the study.

Utilising uniportal video-assisted thoracoscopic surgery for pericardial window: A 12-year single-centre experience in the diagnosis and treatment of pericardial effusion.

Introduction: Uniportal video-assisted thoracoscopic surgery (Uni-VATS) is an effective minimally invasive technique for pericardial drainage, biopsy and window creation in cases of pericardial effusion (PE).

Patients And Methods: This retrospective study evaluated 73 patients with PE who underwent pericardial window procedures between 2012 and 2024. Intraoperative and post-operative data related to Uni-VATS were assessed.

Prediction of post-contrast acute kidney injury by bedside ultrasonography.

Background: The incidence of contrast-induced acute kidney injury (CI-AKI) in the general population ranges from 0.6 to 2.3%, whereas for specific high-risk patients, the incidence can reach more than 30-40%.

The Efficacy of Shear Wave Elastography in Evaluating Treatment Response to US-Guided Steroid Injection in Patients with Carpal Tunnel Syndrome.

Rationale And Objectives: This study aimed to evaluate the efficacy of ultrasound (US)-guided local steroid injection in carpal tunnel syndrome (CTS) using shear wave elastography (SWE).

Materials And Methods: A total of 47 wrists from 41 patients diagnosed with mild to moderate idiopathic CTS, based on clinical and electrophysiological criteria, were enrolled between June and October 2024. All participants underwent US-guided local steroid injection.

Preoperative estimation of hamstring autograft graft diameter in anterior cruciate ligament reconstruction with a new simple method using magnetic resonance imaging.

Background: The aim of this study was to predict intraoperative graft diameter with our new method by evaluating the cross-sectional areas (CSAs) of the hamstrings in axial sections of MRI.

Methods: This study included 78 patients who underwent single-bundle ACLR between 2022 and 2023. MRIs of the patients were evaulated preoperatively and four CSAs of the hamstring tendons were measured in two different regions by two participants.

Sleeve gastrectomy improves HDL function examined by Apo-A1 and atherogenic indices in non-diabetic obese patients.

Objective: Dysregulation of lipid metabolism can be one of the pathophysiological mechanisms linking high-density lipoprotein cholesterol (HDL-C) dysfunction to obesity. The aim of the study is to show possible changes in lipid metabolism with atherogenic indices in obese patients after sleeve gastrectomy (SG) surgery.

Method: Thirty patients who had SG surgery for obesity were included in the prospective study.

Artificial Doctors: Performance of Chatbots as a Tool for Patient Education on Keratoconus.

Purpose: We aimed to compare the answers given by ChatGPT, Bard, and Copilot and that obtained from the American Academy of Ophthalmology (AAO) website to patient-written questions related to keratoconus in terms of accuracy, understandability, actionability, and readability to find out whether chatbots can be used in patient education.

Methods: Twenty patient-written questions obtained from the AAO website related to keratoconus were asked to ChatGPT, Bard, and Copilot. Two ophthalmologists independently assessed the answers obtained from chatbots and the AAO website in terms of accuracy, understandability, and actionability according to the Structure of Observed Learning Outcome taxonomy, Patient Education Materials Assessment Tool-Understandability, and Patient Education Materials Assessment Tool-Actionability tests, respectively.

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.

Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).

Eating Disorder Risk Factors and the Impact of Obesity in Patients With Psoriasis.

Current evidence indicates that obesity may initiate psoriasis or worsen existing disease. Various factors contribute to the development of obesity, including eating disorders (EDs). The aim of this study was to screen for and identify factors associated with EDs in patients with psoriasis and their impact on the development of obesity in this population.

Adrenal hypoandrogenism in adolescents with premature ovarian insufficiency.

Objectives: Premature ovarian insufficiency (POI) affects 1 in 10,000 children, with its molecular causes largely unknown. Adult studies suggest that low androgen levels induce ovarian insufficiency, but data on about this in children is limited. This study aims to assess the prevalence of low androgen levels in childhood POI and its relationship with adrenal insufficiency.

Trends in prescribing montelukast in patients with asthma in real-life: Results from the Turkish adult asthma registry.

Montelukast, a leukotriene receptor antagonist (LTRA) approved for the treatment of asthma and allergic rhinitis, is widely used, though real-world data on its application in asthma management remain limited. This registry-based study evaluated the use of montelukast in adult asthma patients, examining demographic and disease characteristics, asthma control status, asthma phenotypes, presence of atopy, and treatment regimens. Among 2053 patients analyzed, 61.

Impact of preoperative stenting in management of bilateral ureteral stones.

Objective: This study aims to evaluate the impact of preoperative stenting on surgical outcomes and complications in patients with bilateral ureteric stones, specifically assessing its role in reducing the need for subsequent interventions.

Methods: A retrospective analysis was conducted at a tertiary center over eight years, involving 82 patients with bilateral ureteric stones. Patients were divided into two groups: Group 1 (no preoperative stenting) and Group 2 (preoperative stenting).

Noninvasive Approach to Postoperative Bleeding in Patients Undergoing Septorhinoplasty Surgery.

Objectives: In this study, we retrospectively examined the bleeding that occurred in the 5-year patient series.

Materials And Methods: One thousand seven hundred seventy-five patients who underwent septorhinoplasty surgery between 2019 and 2023 were included in the study, and 28 of these patients who presented with bleeding complications were examined. All patients underwent open-technique septorhinoplasty surgery with or without concha intervention and were discharged the next day after overnight hospitalization.

Evaluation of the Diagnostic Accuracy of Percutaneous Core Needle Biopsy in Bone and Soft Tissue Tumors.

Purpose Of The Study: Open (incisional) biopsies have long been accepted as the gold standard in diagnosing bone and soft tissue tumors. However, the main disadvantage of this method is that it can lead to increased contamination, hematoma, infection, and pathological fracture. Compared to open biopsies, percutaneous core needle biopsies are less invasive, do not require hospitalization, have low costs and low complication rates, and there is no need for wound healing in cases that require radiotherapy.

Platelet-to-White Blood Cell Ratio (PWR): A Novel Prognostic Biomarker for Spontaneous Reperfusion after Primary Percutaneous Coronary Intervention.

Background: Spontaneous reperfusion (SR) occurring before primary percutaneous coronary intervention (PPCI) can offer additional clinical benefits to patients with ST-segment elevation myocardial infarction (STEMI). The Platelet-to-White Blood Cell Ratio (PWR) has been recognized as a prognostic indicator in various diseases. We aimed to explore the relationship between PWR and SR in patients with STEMI undergoing PPCI.

Anterior and Posterior Ocular Changes in Patients with Active and Inactive Ankylosing Spondylitis.

BACKGROUND The 6-item Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) is a method for evaluating disease activity in ankylosing spondylitis (AS). This study included 78 patients with active and inactive AS and aimed to evaluate anterior and posterior segment ocular changes. MATERIAL AND METHODS Seventy-eight patients and 70 control subjects were enrolled in this study.

The effect of ultrasound-guided botulinum toxin injections on pain, functionality, spasticity, and range of motion in patients with post-stroke upper extremity spasticity.

Objective: Spasticity developing in the upper extremity in stroke patients causes disability by limiting movement and causing pain. This study investigates the effects of botulinum toxin injections on pain, functionality, spasticity, and range of motion in hemiplegic patients with post-stroke spasticity.

Materials And Methods: The study involved a double-blind, prospective, randomized controlled trial with thirty-one stroke patients aged 35-80 who developed upper extremity spasticity.

Do the ınflammatory markers have a prognostic role in an elderly patient population diagnosed with non-muscle ınvasive bladder cancer?

Objective: To evaluate whether the systemic immune-inflammation index (SII), neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), and De-Ritis ratio (DRR) are determinants of progression-free survival (PFS), recurrence-free survival (RFS) and overall survival (OS) in patients aged ≥ 70 years diagnosed with non-muscle invasive bladder cancer (NMIBC).

Method: The study included 173 elderly patients diagnosed with NMIBC between January 2015 and March 2022. The clinical and pathological data of the patients were examined.