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.

Multigene Panel Testing Revealed Novel Variants in Hereditary Spherocytosis Patients in Türkiye.

Objective: This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype.

Materials And Methods: Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe.

Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?

Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.

Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.

Long-term outcomes of Türkiye's first population-based mammography screening program: a decade of breast cancer detection and survival analysis in Bahçeşehir.

Background: The Bahçeşehir population-based mammography screening program (BMSP) is an example of Türkiye's first population-based screening program. This study aims to reveal the successful implementation of population-based secreening program in one of the low- and middle-income countries, Türkiye and long-term results of patients diagnosed with breast cancer during BMSP.

Methods: This study was conducted between 2009 and 2019, in the Bahçeşehir county of Istanbul.

Thyroid surgery in pediatric age: a ten-year experience at a single center and literature review.

Objectives: Surgery interventions for thyroid disorders are rare in pediatric population. This study aims to present our institution's 10-year experience regarding the surgical treatment and outcomes of thyroid pathologies in children and review the literature.

Methods: All pediatric patients who underwent thyroid surgery at our institution from April 2013 to October 2023 were retrospectively reviewed.

The forensic medical evaluation of medical malpractice claims in the field of medical pathology.

Just like in other medical specialties, medical malpractice claims arise in pathology as well. Although the exact rate of malpractice related to pathology cannot be clearly stated in Turkey, it is known to occur more frequently during the diagnosis stage, as reported worldwide. This study discusses the measures that should be taken to prevent these claims by comparing cases with alleged malpractice in pathology, evaluated by the Council of Forensic Medicine, with the literature.

Effectiveness of movement representation techniques in non-specific shoulder pain: a systematic review and meta-analysis.

This systematic review and meta-analysis aims to assess the effects of movement representation techniques (MRT) on pain, range of motion, functional outcomes, and pain-related fear in patients with non-specific shoulder pain (NSSP). A literature search conducted in PubMed, PEDro, EBSCO, Scopus, Cochrane Library, ScienceDirect, and gray literature on April 31, 2023. We selected seven randomized controlled trials based on the PICOS framework.

Feature efficiency in IoMT security: A comprehensive framework for threat detection with DNN and ML.

Background: To address critical security challenges in the Internet of Medical Things (IoMT), this study develops a feature selection framework to improve detection accuracy and computational efficiency in IoMT cybersecurity. By optimizing feature selection, the framework aims to enhance the security and operational integrity of real-time healthcare systems.

Method: This study integrates Random Subset Feature Selection (RSFS) with Correlation Feature Selection (CFS) to create a novel feature selection framework tailored to IoMT datasets.

De-Escalation of Nodal Surgery in Clinically Node-Positive Breast Cancer.

Importance: Increasing evidence supports the oncologic safety of de-escalating axillary surgery for patients with breast cancer after neoadjuvant chemotherapy (NAC).

Objective: To evaluate the oncologic outcomes of de-escalating axillary surgery among patients with clinically node (cN)-positive breast cancer and patients whose disease became cN negative after NAC (ycN negative).

Design, Setting, And Participants: In the NEOSENTITURK MF-1803 prospective cohort registry trial, patients from 37 centers with cT1-4N1-3M0 disease treated with sentinel lymph node biopsy (SLNB) or targeted axillary dissection (TAD) alone or with ypN-negative or ypN-positive disease after NAC were recruited between February 15, 2019, and January 1, 2023, and evaluated.

The triple threat: unpacking the interplay between inflation, government expenditure, energy efficiency, and environmental pollution.

This study investigates the relation and Granger causality among inflation, fiscal expenditure, energy consumption, economic growth, energy efficiency, renewable energy consumption, and environmental pollution in the G7 countries utilizing the PLSTRVAR model for 1975-2022. Our findings highlight the results that inflation and fiscal expenditure have impact on environmental pollution across different regimes. On the other hand, unlike some studies in the literature, it emphasizes that renewable energy consumption may have pollution-increasing effects on environmental pollution.

Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions.

Children with milk and egg allergies have outcomes in which, three-quarters are tolerant to baked forms of the allergenic food. Identifying predictors of tolerance to baked foods for IgE-mediated immediate-type reactions may guide the early introduction of baked allergens to diet and tolerance development. This study explores factors associated with early tolerance to baked foods.