Diagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.

Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.

Current Practices in Hashimoto's Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey.

Introduction: This study aimed to assess the clinical practices and attitudes towards Hashimoto's thyroiditis (HT) among pediatric (PEs) and adult endocrinologists (AEs).

Methods: The members of Turkish Society for Pediatric Endocrinology and Diabetes (n=502) and the Society of Endocrinology and Metabolism of Türkiye (n=910) were invited to participate in an online survey.

Results: Of the respondents (n=168), 72.

Healing beyond bone: a qualitative study of the core decompression experience of physically active patients with stage II hip avascular necrosis.

Background: Avascular necrosis (AVN) of the femoral head is a degenerative condition characterized by ischemic bone death, resulting in pain and impaired mobility. Core decompression, a surgical intervention, is widely performed for stage II AVN to alleviate symptoms and delay disease progression. While clinical and radiological outcomes are well-documented, the psychosocial dimensions of recovery remain underexplored.

Could serum Raftlin and GPER-1levels be new biomarkers for early detection of non-small cell lung cancer?

Background: Lung cancer is the leading cause of cancer-related deaths worldwide. Therefore, the search for new biomarkers continues in order to diagnose lung cancer at an early stage. In this study, we investigated blood levels of G-protein associated membrane estrogen receptor (GPER)-1 and Raftlin as markers of early-stage in lung cancer.

The impact of absorbable hemostatic agents on wound healing in an experimental penile fracture rat model.

Objective: This study aimed to evaluate the effects of two absorbable hemostatic agents, oxidized regenerated cellulose (ORC) and gelatin sponge, on wound healing in a rat model of penile fracture.

Materials And Methods: A total of 32 Wistar albino rats were divided into four groups: Control (C), Primary Suturing (PS), ORC, and Gelatin Sponge (GS). A penile fracture model was created in all rats, and wound healing was assessed histopathologically after two weeks.

Fronto-orbital advancement: Comparison of syndromic and nonsyndromic craniosynostosis patients.

Craniosynostosis causes functional and aesthetic problems that require fronto-orbital advancement in patients to correct the cranial deformity and to prevent functional problems due to increased intracranial pressure (ICP). In this study, demographic information, operative details, preoperative clinical findings, and postoperative outcomes were reviewed for 106 craniosynostosis patients with at least 1 year of follow-up. Many factors such as functional losses due to increased ICP before surgery, resynostosis, fronto-orbital relapse, surgical complications and aesthetic results were compared in syndromic and non-syndromic patients.

THE ROLE OF DYNAMIC CERVICAL MRI IN DETERMINING THE LEVEL OF POSTERIOR DECOMPRESSION IN CERVICAL SPONDYLOTIC MYELOPATHY.

Background: Cervical spondylotic myelopathy (CSM) is a leading cause of spinal cord dysfunction in adults, often progressing silently. Static MRI is the standard imaging tool but may miss compression caused by neck movement. Dynamic MRI, by capturing flexion and extension views, provides a clearer picture of spinal cord compression, aiding surgical planning and improving outcomes.

Bibliometric analysis of neurocysticercosis case reports and evaluation of presented cases.

Neurocysticercosis (NCC) has been classified as a neglected tropical disease by the World Health Organization (WHO), with the condition being regarded as the most significant parasitic disease affecting the nervous system. Hence, the aim of this study was to conduct a review of previously published case reports on this topic in order to ascertain whether there is an increasing trend of NCC worldwide and evaluate the cases that have been presented. After a comprehensive search of the Web of Science Core Collection using the keywords "neurocysticercosis" and "case reports", studies were selected by applying inclusion criteria.

Dynamine 3 as a Diagnostic and Prognostic Biomarker in Pancreatic Cancer: Implications for Early Detection and Targeted Therapy.

Background: Dynamins are defined as a group of molecules with GTPase activity that play a role in the formation of endocytic vesicles and Golgi apparatus. Among them, DNM3 has gained recognition in oncology for its tumor suppressor role. Based on this, the aim of this study is to investigate the effects of the DNM3 gene in patients diagnosed with pancreatic cancer using bioinformatics databases.

The Role of TRPM2 Channel in Doxorubicin-induced Cell Damage in Laryngeal Squamous Cancer Cells.

Laryngeal squamous cell carcinoma is a common type of head and neck cancer. This study investigated the role of the TRPM2 channel in doxorubicin (DOX)-induced cell damage in human laryngeal squamous cancer cells (Hep-2). Cells were exposed to various DOX concentrations and the appropriate dose was found.

Navigating Hope and Complexity: Turkish Parents' Experiences with Savior Siblings.

Background/aims: Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major. This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings. Turkey is a world leader in both PGD+HLA typing technology and hematopoietic stem cell transplantation from savior siblings born through PGD+HLA typing.

CONGENITAL HYPOTHYROIDISM SCREENING RESULTS IN THE TURKISH PROVINCE OF ADIYAMAN IN 2015-2020.

Context: Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability, and can be diagnosed in the early period through neonatal screening programs.

Objective: The purpose of this study was to determine the prevalence of CH and recall rates in the province of Adıyaman.

Design: This retrospective study evaluated the data of newborn screening program in Adıyaman province between January 2015 and December 2020.

THE EVALUATION OF SHORT AND LONG-TERM QUALITY OF LIFE IN PATIENTS UNDERGOING THYROIDECTOMY DUE TO BENIGN OR MALIGNANT DISEASES.

Context: In patients undergoing thyroidectomy for malignant disease, lower quality of life scores were observed in the early postoperative period compared to those undergoing thyroidectomy for benign causes.

Objective: Thyroid gland diseases are commonly encountered in society. This study presents health-related quality of life differences in thyroidectomies performed for benign and malignant diseases and the factors affecting this.

EVALUATION AND MANAGEMENT OF PARATHYROID INCIDENTALOMAS DETECTED BY ROUTINE NECK ULTRASONOGRAPHY WITH A MULTIDISCIPLINARY CLINICAL APPROACH.

Contex: Detection of parathyroid incidentalomas (PTIs) by ultrasonography (US) generally depends on clinical experience and it can be usually confused with perithyroidal lymph nodes.

Objective: We aimed to evaluate the role of US for the detection of PTIs and define clinicopathologic features of PTIs detected during routine neck US.

Design: In this retrospective study, we studied PTIs in a multidisciplinary clinical approach of nuclear medicine and general surgery clinics.

ANALYSIS OF PUBLIC INTEREST ABOUT OSTEOPOROSIS USING GOOGLE TRENDS: ARE SEASON AND ECONOMY EFFECTIVE?

Background: The aim of this study was to assess the awareness of the USA and world population about osteoporosis, taking into account seasonal variations and economic conditions.

Methods: The term "osteoporosis" was searched using Google Trends between January 1, 2004 and September 12, 2024. Cosinor analysis was used to test the effect of seasonality on relative search volumes (RSV) for osteoporosis searches in the USA and worldwide.

The effect of continuous positive airway pressure (CPAP) application on airway problems in pediatric patients with subglottic stenosis who undergo balloon dilatation.

Background: Subglottic stenosis is a significant clinical challenge in pediatric anesthesia, often necessitating interventions that can lead to various postoperative complications. The aim of this study was to determine the effect of prophylactic continuous positive airway pressure (CPAP) application on recovery time and airway complications in pediatric patients with subglottic stenosis undergoing balloon dilatation.

Methods: A prospective, double-blinded, parallel-group, randomized controlled study was conducted at Health Sciences University Ümraniye Training and Research Hospital on pediatric patients with subglottic stenosis, aged from 0 to 12 years and who underwent elective balloon dilatation under general anesthesia.

The role of 1-Deoxysphingolipids and Polyamines in the pathogenesis of placental syndrome.

Background: Placental syndrome, mainly composed of preeclampsia and fetal growth restriction, has an impact on the health of mother and baby dyads. While impaired placentation is central to their pathophysiology, the underlying molecular mechanisms remain incompletely understood. This study investigates the association between placental syndrome and metabolic alterations in 1-deoxysphingolipids (1-deoxySLs) and polyamines, along with their regulatory enzymes.

Fructose-derived glycation and immune function: Effects on antigen binding in human IgG and lymphocytes.

Diabetes Mellitus (DM), one of the oldest known metabolic disorders, dates back to 3000 BC and continues to have a profound impact on health and the economy. Nutrition plays a critical role in managing diabetes and enhancing overall quality of life. It is also vital for immune system function, as well as in the prevention and treatment of aging-related diseases.

The Effect of Providing Video-Animated Information to Female Patients With Stress Urinary Incontinence Before the Urodynamic Study on the Patient's Anxiety, Pain, Satisfaction, and Willingness to Repeat the Procedure.

Objectives: To investigate the effect of providing video-animated information to female patients with stress urinary incontinence before urodynamics on the patient's anxiety, pain, satisfaction, and willingness to repeat the procedure.

Methods: Before the procedure, patients were divided into two groups with 1:1 randomization. While one group was given written and verbal information, the other group was additionally given animated video information accompanied by a doctor.

Spontaneous true brachial artery aneurysm: A case report from Somalia.

Introduction And Importance: True brachial artery aneurysms are rather uncommon, due to their number of etiological factors. Besides inducing symptoms such as hand or digit ischemia, they may present as pulsative tumefactions and cause pain or paresthesias through nerve impingement. The diagnosis is based on duplex ultrasonography, CTA in the operational planning phase, and a physical examination.

Is magnesium level significant in prognosis of geriatric patients admitted to the emergency department?

Aim: This study aims to evaluate the impact of serum magnesium (Mg) level on hospitalization and 28-day mortality in a nonspecific geriatric patient population.

Method: This single-center retrospective and observational clinical study involved patients aged over 70 years who presented to the emergency department for any complaint. Those whose Mg levels were not assessed and those who presented due to trauma, treated in another hospital before coming to our hospital, presented in cardiopulmonary arrest, refused treatment and/or left the hospital without permission, and were referred to another hospital were excluded from this study.

Evaluation of balance in children with hemophilia and the effect of balance on quality of life.

Background: Repeated joint bleeds are reported to decrease static balance in children with hemophilia (CwH).

Research Question: Is dynamic balance affected in CwH? Does dynamic balance affect the quality of life in these patients?

Methods: This cross-sectional study included thirty male children aged 7-18 years diagnosed with hemophilia, along with thirty healthy male children as controls. Dynamic balance was evaluated using the limits of stability (LOS) test and a fall risk test, both conducted via the Biodex Balance System.

Evaluation of the predictive value of the glucose-to-potassium ratio in predicting in-hospital mortality of patients with sepsis and septic shock.

Background: In this study, we aimed to evaluate the role of the glucose-to-potassium ratio in predicting in-hospital mortality and prognosis of patients diagnosed with sepsis and septic shock in an emergency department and admitted to an emergency critical intensive care unit (ICU).

Methods: This study was a retrospective and observational evaluation of nontraumatic sepsis and septic shock patients > 18 years of age who were admitted to the emergency department of a tertiary training and research hospital and had available glucose and potassium values at the time of admission. The patients were evaluated over a 24-month period.

The role of facet joint degeneration in the treatment success of transforaminal epidural steroid injection: a retrospective clinical study.

Objective: Transforaminal epidural steroid injection (TFESI) is highly effective in alleviating radicular back pain. While predictive factors for TFESI treatment outcomes have been previously studied, there is a lack of data on the relationship between facet joint degeneration and TFESI efficacy. This study is aimed at studying the impact of facet joint degeneration on TFESI treatment outcomes for unilateral radicular pain.