TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.

Background: Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.

Patients And Methods: The proband, an 11-year-old male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data.

Background: We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline.

Methods: All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2).

Awareness and Knowledge of Pneumococcal Vaccination in Cardiology Outpatient Clinics and the Impact of Physicians' Recommendations on Vaccination Rates.

Aim: We aimed to evaluate the awareness of pneumococcal vaccination (PCV13, PPSV23) in general cardiology outpatient clinics and impact of physicians' recommendations on vaccination rates.

Methods: This was a multicenter, observational, prospective cohort study. Patients over the age of 18 from 40 hospitals in different regions of Turkey who applied to the cardiology outpatient clinic between September 2022 and August 2021 participated.

Prognostic Nutritional Index as a Novel Predictor of In-Stent Restenosis: A Retrospective Study.

: In-stent restenosis (ISR) is a major problem in patients undergoing percutaneous coronary intervention. The prognostic nutritional index (PNI) is a nutritional status score used in the literature to determine the prognosis of coronary artery disease. In this study, we aimed to investigate the effect of preprocedural PNI values on the risk of ISR in patients with stable coronary artery disease who underwent successful percutaneous coronary intervention.

Social Cognition in Opioid Use Disorder.

Opioid use disorder (OUD) is associated with significant functional impairment and neurocognitive dysfunction, but only a handful of studies have investigated social cognitive abilities in this condition. This study aimed to investigate facial emotion recognition accuracy/biases and two different aspects of theory of mind (ToM) (ToM-decoding vs ToM-reasoning) in people with recovered OUD. The participants included 32 people with recovered OUD who were on Buprenorphine + Naloxone (B/N) maintenance treatment and 32 healthy controls.

Acetabular index and acetabular depth ratio in newborns and infants aged 6 months or less with the healthy development of hips: A retrospective cross-sectional study.

Radiographic assessment of the hip may render critical in the diagnosis of developmental dysplasia of the hip (DDH) in newborns and infants aged ≤6 months. There is no complete dataset on the acetabular index (AI) and acetabular depth ratio (ADR) values in this age group. The objective of this study was to assess the AI and ADR values in newborns and infants aged ≤6 months with healthy development.

Perceived Need for Mental Health Services Among Healthcare Workers During the Coronavirus Disease-19 Pandemic in Turkey: A Multicenter Cross-sectional Study.

Background: The coronavirus disease-2019 pandemic has contributed to work-related psychosocial risks in healthcare workers.

Aims: To evaluate the perceived need for mental health services and related factors in Turkish healthcare workers practicing in pandemic hospitals.

Study Design: Cross-sectional study.

Executive function, behavioral problems, and insulin resistance in adolescents with obesity.

Objectives: In this study, we examined executive function (EF) abilities, behavioral and emotional (BE) issues, and overall quality of life (QoL) of adolescents with obesity and compared them with a control group and also aimed to investigate whether the presence of insulin resistance (IR) is associated with these problems.

Methods: This cross-sectional study included a sample of 50 adolescents aged 11-18 years with obesity and age- and gender-matched 50 normal weight adolescents who had attended and were treated at the pediatric outpatient clinic. Sociodemographic data were collected through personal interviews with the adolescents and their parents.

Do novel oral anticoagulant drugs used in patients with nonvalvular atrial fibrillation act only as anticoagulants?

Objective: Although inflammation has an important role in the pathogenesis of atrial fibrillation (AF), the effect of novel oral anticoagulants (NOAC) used to reduce the risk of ischemic stroke and embolism on inflammation remains unknown. In this study, we aimed to investigate the effects of NOAC, which have been shown to have anticoagulant properties, on inflammation and platelet reactivation, which have an important role in the pathogenesis of AF.

Patients And Methods: A total of 530 patients, including 380 patients with nonvalvular AF using NOAC and 150 patients with nonvalvular AF who did not use any NOAC were included in the study.

Factors affecting the development of complications in Crohn's disease in patients undergoing intestinal resection.

Surgery is a common form of management for Crohn disease (CD) in the presence of intra-abdominal complications. In this study, we investigated the effect of various factors on the development of postoperative complications in patients who underwent surgery for complicated CD. Patients who underwent surgery between 2011 and 2018 were included in this study.

Betatrophin, elabela, asprosin, glucagon and subfatin peptides in breast tissue, blood and milk in gestational diabetes.

We investigated the presence of asprosin (ASP), betatrophin, elabela (ELA), glucagon and subfatin (SUB) in the milk of mothers with gestational diabetes mellitus (GDM) and compared their levels with blood levels. We also investigated whether these peptides are synthesized by the breast. We investigated 12 volunteer mothers with GDM and 14 pregnant non-GDM control mothers.

Additional malignancies shorten overall survival in chronic lymphocytic leukemia irrespective of chromosomal aberrations: A retrospective cohort study.

The aim of this study was to determine the incidence of other malignancies (OMs) in patients with chronic lymphocytic leukemia (CLL) and to identify parameters associated with the occurrence of OMs in addition to CLL. This retrospective cohort study was conducted by examining the records of CLL patients who applied to a tertiary hospital between January 2013 and December 2021. The cases were divided into 2 groups, CLL (n = 107) and CLL + OM (n = 25), according to the presence of additional malignancy.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

A new risk factor for predicting stroke in patients with atrial fibrillation: morning blood pressure surge.

Background: Stroke, the most feared complication in patients with atrial fibrillation (AF), is still an important cause of mortality and morbidity. In our study, we aimed to investigate the frequency of stroke and related parameters in patients with atrial fibrillation, for whom 24-h ambulatory blood pressure monitoring (ABPM) was performed.

Method: A total of 282 patients with permanent AF were included in this study.

The clinical significance of anti-DFS70 autoantibodies and its correlation with Vitamin D levels.

Objective: This study aims to investigate the clinical significance of anti-dense fine speckled 70 (DFS70) autoantibodies and its association with systemic autoimmune rheumatic diseases (SARD) related autoimmune markers and Vitamin D levels.

Methods: The study group consisted of 281 (mean age±SD: 45.31±15.

Evaluation of serum telomerase activity in normal-weight young girls with polycystic ovary syndrome and its relation to metabolic parameters.

Objectives: This study investigated the discriminative value of serum telomerase levels in polycystic ovary syndrome (PCOS) and its relation to metabolic parameters.

Methods: Patients aged 16-23 years old who visited an adolescent outpatient clinic were included in the study. Our study consisted of 45 non-obese girls with polycystic ovary syndrome (PCOS), while our control group consisted of 45 healthy girls with normal menstrual cycles and no signs of hyperandrogenism.

Evaluation of Coronary Flow Level with Mots-C in Patients with STEMI Undergoing Primary PCI.

Background: The protective effects of mitochondrial open reading frame of the 12S rRNA-c (MOTS-C) on cardiovascular diseases have been shown in numerous studies. However, there is little documentation of the relationship between MOTS-C and coronary blood flow in ST-segment elevation myocardial infarction (STEMI).

Objective: We aimed to investigate the role of MOTS-C, which is known to have cytoprotective properties in the pathogenesis of the no-reflow phenomenon, by comparing the coronary flow rate and MOTS-C levels in patients with STEMI submitted to primary PCI.

Ultrasound-guided interfascial blocks of the trapezius muscle for cervicogenic headache.

Objectives: Disorders in the cervical muscles, such as myofascial trigger points and tightness, are common factors in patients with cervicogenic headache (CEH). We aimed to evaluate the effectiveness of ultrasound-guided interfascial blocks of the trapezius muscle in patients with CEH who showed tenderness in the upper cervical muscle groups.

Methods: A total of 23 patients were evaluated in the prospective observational trial.

Serum calprotectin levels as markers of inflammation, insulin resistance and hyperandrogenism in women with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a common, complex endocrine, and metabolic disorder. Inflammation has been thought to play an important role in PCOS pathogenesis in recent years, and various inflammatory markers have been investigated; however, no definite conclusion has been reached. As a multifunctional regulatory protein in different inflammatory processes, calprotectin may play a role in the etiology of PCOS.

Elevated amylase and lipase levels in patients with DKA followed in the pediatric intensive care unit.

Objectives: Diabetic ketoacidosis (DKA) is a life-threatening acute metabolic decompensation condition due to insulin deficiency and elevation of pancreatic enzymes is common. The goal of this study was to determine the laboratory findings and biochemical characteristics associated with pancreatic enzyme elevation during DKA.

Methods: The files of patients hospitalized in the pediatric intensive care unit with the diagnosis of DKA between March 2020 and 2022 were reviewed retrospectively.

The clinical, functional, and radiological features of hand osteoarthritis: TLAR-osteoarthritis multi-center cohort study.

Objectives: This study aims to evaluate the clinical, functional, and radiological features of hand osteoarthritis (OA) and to examine their relationships in different geographic samples of the Turkish population.

Patients And Methods: Between April 2017 and January 2019, a total of 520 patients (49 males, 471 females; mean age: 63.6±9.

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in and Genes.

Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment.