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.

The clinical impact of chronopharmacology on current medicine.

One of the goals of clinical pharmacology is to optimize patient treatment by adopting new treatment strategies which will increase the efficacy of the treatment and decrease the adverse effects of the drugs. In the literature, it has shown that the effectiveness and toxicity of medications can vary significantly based on when they are administered, making timing a crucial factor in treatment plans. Chronopharmacology a relatively new branch of clinical pharmacology focuses on adjusting drug administration times to enhance patient outcomes.

Modification of Gene Expression Involved in Alkaloid Production in Opium Poppy by VIGS Combined With Pretreatment of Macerozyme Enzyme.

L., a medicinal plant renowned for its pharmaceutical alkaloids, has captivated scientific interest due to its rich secondary metabolite profile. This study explores a novel approach to manipulating alkaloid biosynthesis pathways by integrating virus-induced gene silencing (VIGS) with macerozyme enzyme pretreatment.

The sleep health composite and chronotype among children and adolescents with type 1 diabetes compared to case-control peers without diabetes.

Study Objectives: Our objectives were to compare sleep health composite dimensions and chronotype in children and adolescents with and without type 1 diabetes (T1D) and to explore the relationship between sleep and glycemic variability in T1D.

Methods: The study comprised 84 participants with T1D aged between 6 to 18 years, and age and sex matched by controls. The sleep health composite (SHC) was measured using actigraphy, sleep diaries, and self or parental reports.

Serum NMR metabolomics in distinct subtypes of hematologic malignancies.

Hematologic malignancies encompass a diverse array of subtypes, contributing to substantial heterogeneity that poses challenges in predicting clinical outcomes. Leveraging the capabilities of nuclear magnetic resonance holds substantial promise in the detection of serum biomarkers and individual metabolic alterations in patients. This study involved the analysis of the sera from patients with acute myeloid leukemia, chronic lymphocytic leukemia, and non-Hodgkin lymphoma to investigate the affected metabolites and their associated pathways.

A versatile reusable polymer-based sensor for aluminum analysis in various food matrices.

Within the scope of this study, a polymer-based optical sensor that can polymerize under UV radiation and produce fluorescence when suitable functional monomers and crosslinkers were prepared for aluminum determination in yogurt, soybean flour, and meat samples. Parameters such as operating range, pH, sensitivity, selectivity, determination limit, and foreign ion effect were thoroughly investigated to validate the developed method and characterize this polymer-based membrane. The designed sensor has wavelengths of 322 nm for fluorescence excitation and 356 nm for emission, respectively.

Surgical treatment of a giant hydatid cyst in the interventricular septum.

The surgical procedure detailed in this case report focuses on the treatment of a large cardiac hydatid cyst located in the intraventricular septum. The surgical intervention comprised a comprehensive approach involving a median sternotomy and cardiopulmonary bypass. A localized mass below the tricuspid valve at the basal region of the interventricular septum was revealed.

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.

Design: Retrospective multicentre cohort study.

The effect of dual-task training in older adults with total hip arthroplasty: a randomized controlled trial.

Background: No other study has addressed the effectiveness of dual-task training in the postoperative period of total hip arthroplasty (THA). This study investigated the efficacy of dual-task training in older adults with THA.

Methods: Patients were randomized into the control group (CG) (n = 14) and intervention group (IG) (n = 14).

Are Stabilisation Exercises Effective After Epidural Steroid Injection in Patients With Cervical Radiculopathy? A Prospective Randomised Controlled Trial.

Background: Cervical radiculopathy is caused by dysfunction of nerve roots in the cervical spine. While many studies have assessed the effectiveness of interlaminar epidural steroid injection (ILESI) and stabilisation exercises separately for this condition, our study aims to evaluate the impact of different stabilisation exercise programmes following ILESI on treatment outcomes in radiculopathy patients.

Methods: Sixty-two patients with cervical radiculopathy were randomised into three groups: cervical ILESI-only (CO), neck stabilisation group (NSG) and scapular stabilisation group (SSG).

Association of nutritional status indices with gastrointestinal symptoms in systemic sclerosis: a cross-sectional study.

Gastrointestinal (GI) involvement is highly prevalent in systemic sclerosis (SSc) and significantly affects patient quality of life and clinical outcomes. This study investigates the potential of undernutrition scores, namely the Control of Nutritional Status (CONUT) score and the Prognostic Nutrition Index (PNI), in predicting GI involvement in patients with SSc. A total of 82 patients diagnosed with SSc were enrolled in this cross-sectional study.

Exploring novel inhibitors for Babesia bigemina lactate dehydrogenase: a computational structural biology perspective.

Babesia bigemina is an apicomplexan parasite responsible for causing "Texas fever" in bovines. Current treatments for bovine babesiosis are hindered by several limitations, including toxicity, insufficient efficacy in eliminating the parasite, and the potential for resistance development. A promising approach to overcome these challenges is the identification of compounds that specifically target essential metabolic pathways unique to the parasite.

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients. A multicenter study by EBMT IEWP.

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

Effect of Chemotherapy Patient Education Using the Teach-Back Method on Symptom Management and Quality of Life: A Randomized Controlled Trial.

This study aimed to evaluate the impact of the teach-back method in managing chemotherapy symptoms and improving quality of life. A secondary aim was to develop more effective care and education frameworks for cancer treatment. A single-center, randomized controlled trial was conducted with 80 patients who received chemotherapy between June 2022 and May 2023.

Size Matters: A Comparative Study on Midday Fogging and Lens Settling in Patients With Keratoconus Wearing Mini-Scleral Lenses With Two Different Diameters.

Purpose: The objective of this study was to compare the changes in postlens fluid optical density, timing and quantity of lens settling, and the clinical performance between two different mini-scleral lenses.

Methods: Seventeen eyes of 10 patients with keratoconus were fitted with a 15-mm mini-scleral lens (AirKone Scleral Lenses; Laboratoire LCS, Normandy, France), and 15 eyes of 10 patients with keratoconus were fitted with 16.5-mm mini-scleral lenses (Misa Lenses; Microlens Contactlens Technology, Arnhem, The Netherlands).

The Diagnostic Value of Neutrophil and Monocyte Cell Population Data Obtained From a Hematology Analyzer in Neonatal Sepsis.

We aimed to investigate the diagnostic value of leukocyte cell population data (CPD) parameters obtained from an automated hematology analyzer to be able to use it in the diagnosis of neonatal sepsis. Our study was a retrospective and cross-sectional analysis. The neonates were classified into 3 groups: culture-positive sepsis (n = 20), clinical sepsis (n = 87), and control (n = 269).

Periapical health in Type 1 diabetes mellitus patients with good glycemic control: A cross-sectional case-control study.

Purpose: To investigate the relationship between type 1 diabetes mellitus (T1-DM) and apical periodontitis (AP). The periapical and endodontic conditions of T1-DM individuals were compared with healthy people.

Methods: T1-DM subjects aged 18-45 with good glycemic control (HbA1c < 7) were included in this research.

A Study on Gambling Behavior in Türkiye: Perceptions, Attitudes, Thoughts, and Behaviors Toward Gambling.

Background: The aim of this quantitative study conducted with 5008 individuals aged 15 and above in 12 provinces across Turkey was to determine the prevalence and significant variables of gambling behavior in our country and to examine the gambling behaviors, perceptions, thoughts, and attitudes of this population towards gambling. The goal is to generate concrete, original, culturally sensitive, feasible, and effective recommendations for preventive and risk-reducing policies. It is the first and only comprehensive investigation into gambling behavior in Turkey, offering guidance in this field.

Effects of Transcranial and Trans-Spinal Direct Current Stimulation Combined with Robot-Assisted Gait Training on Gait and Fatigue in Patients with Multiple Sclerosis: A Double-Blind, Randomized, Sham-Controlled Study.

Multiple Sclerosis (MS) is a chronic neurological condition that impairs motor and sensory functions, particularly gait. Non-invasive neuromodulation techniques aim to enhance functional recovery and motor-cognitive outcomes, though their effectiveness remains debated. This study compared the effects of transcranial direct current stimulation (tDCS) and trans-spinal direct current stimulation (tsDCS), combined with robotic-assisted gait training (RAGT), on motor function and fatigue in people with MS (pwMS).

The effect of web-based breastfeeding education given to primiparous pregnant women: a randomised controlled study.

This was a randomised controlled study to investigate the effect of web-based breastfeeding education given to primiparous pregnant women on postpartum breastfeeding. The study included a total of 120 primiparous pregnant women, including control group (n:60) and experimental group (n:60). The study was conducted in a district in northern Turkey.

Modulation of inflammatory signaling by vitamin E metabolites and its therapeutic implications.

Naturally occurring vitamin E is a lipophilic plant-derived molecule corresponding to the 2 R forms of alpha-tocopherol. A series of natural analogs or tocochromanols are present in nature, including β-, γ- and δ-tocopherol (βT, γT, δT), the corresponding tocotrienols (αTE, βTE, γTE, δTE) and tocomonoenols. Differences between these analogs as lipophilic antioxidants and modulators of molecular processes suggest specific therapeutic properties against various disorders associated with acute and chronic inflammation.

Anatomy education in transition: examining medical student experiences during the distance education.

Background: Distance education emerged as a potential solution to enhance access, standardize content, and facilitate updates. However, student perceptions varied widely. The COVID-19 pandemic prompted a rapid shift towards distance education in anatomy, presenting challenges and opportunities for medical students globally.

Aggression in crime and sports: a study on prisoners and amateur combat athletes in Türkiye.

Background: This research focuses on examining and comparing the aggression levels of prisoners incarcerated for intentional injury and amateur combat athletes. The study aims to explore the differences in aggression levels among these groups to understand the impact of incarceration and sports participation on aggression.

Methods: The participants included in the analysis consist of prisoners (n = 363) housed in Marmara No.