The Role of Serum Vitamin D Levels and Vitamin D Receptor () Gene Variants on Dental Caries.

Background/objectives: Vitamin D helps the mineralization of bone, teeth, and other calcified tissues by regulating calcium-phosphate metabolism. The nuclear activation of the vitamin D receptor () gene is essential for the effectiveness of vitamin D. The main objective of this study is to determine the role of vitamin D levels and gene variants in dental caries.

Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Introduction: Gaucher disease (GD) is a lysosomal storage disorder causing systemic and skeletal complications. This study evaluates bone health in adult GD type 1 patients, focusing on skeletal complications, bone mineral density (BMD), and biochemical markers.

Material And Methods: A cohort of adult GD type 1 patients followed up at Ege University Pediatric Metabolism Department were retrospectively examined.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Unlabelled: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively.

Novel Multimodal Imaging in Bilateral Diffuse Uveal Melanocytic Proliferation and Change in the Findings During Follow-up and Treatment.

Purpose: To describe the advanced multimodal imaging findings of patients with bilateral diffuse uveal melanocytic proliferation (BDUMP) and the changes in these findings over time.

Methods: Fundus photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), B-scan ultrasonography (US), and ultrasound biomicroscopy (UBM) images of the patients diagnosed with BDUMP at a single institution between years 2006-2023 were evaluated.

Results: Sixteen eyes of 8 patients with BDUMP were included.

Turkish Retinoblastoma Research: A Bibliometric Analysis (1966-2024).

Objectives: To conduct the first bibliometric analysis of retinoblastoma research in Türkiye and identify leading institutions, authors, collaboration patterns, and potential growth areas.

Materials And Methods: We conducted a search on international databases (Web of Science [WoS] and Scopus), a national database (TR Dizin), and gray literature sources (thesis/Scientific and Technological Research Council of Türkiye project reports). Data were cleaned and analyzed using bibliometric tools, including Open Refine and VOSviewer.

Real-life neovascular AMD treatment considering reimbursement in Turkiye: One-year comparison of switching to intravitreal ranibizumab or aflibercept after treatment failure with three loading intravitreal bevacizumab injections.

Objective: To compare one-year anatomical and functional results of switching to an on-label intravitreal anti-vascular endothelial growth factor (anti-VEGF) agent (intravitreal ranibizumab [IVR] or aflibercept [IVA]) after treatment failure with three loading doses of off-label intravitreal bevacizumab (IVB), which is mandatory in the treatment of neovascular age-related macular degeneration (nAMD) to get reimbursement from Social Security Institution in Turkiye.

Methods: This comparative, real-life, retrospective cohort study included treatment-naïve nAMD patients treated starting with three loading doses of IVB, switched to three loading doses of IVR and IVA due to treatment failure after IVB loading, and followed up one year with a treat-and-extend (T&E) protocol with 2-week extension/shortening intervals. The primary outcomes were changes in best-corrected visual acuity (BCVA; logMAR) and central macular thickness (CMT, µm) one year after the switch, and the secondary outcomes were maximum treatment intervals, number of injections, and disease activity rates.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs.

Evaluation of the effect of vitreomacular interface disorders on anti-VEGF treatment in patients with diabetic macular edema in real life: MARMASIA study group report No. 10.

Purpose: The aim of this study is to investigate the effect of vitreomacular interface disorders (VMID) on treatment response in patients treated with anti-vascular endothelial growth factor (anti-VEGF) due to diabetic macular edema (DME).

Methods: Three hundred seventy-seven eyes of 239 patients in the MARMASIA Study Group who received intravitreal anti-VEGF treatment (IVT) due to DME were included in the study. The group 1 consisted of 44 eyes of the patients who had not received any treatment before, were followed up regularly for 24 months after at least a 3-month loading dose, and suffered from VMID such as epiretinal membrane, vitreomacular adhesion or traction, and lamellar hole.

Efficacy of ranibizumab and aflibercept on reducing maximum diameter of largest cyst in diabetic cystoid macular edema: MARMASIA study group.

Purpose: This study aimed to compare the effect of intravitreal aflibercept (IVA) and ranibizumab (IVR) on the maximal diameter of the largest intraretinal cyst (mdIRC), indicating chronicity in patients with diabetic cystoid macular edema (CME).

Methods: This retrospective, comparative study included a subgroup of patients from the MARMASIA Study with treatment-naïve diabetic CME who had IVA (IVA group) or IVR (IVR group) on a pro re nata regimen after a loading dose of 3-monthly injections and followed-up for 24 months. Best-corrected visual acuity (logMAR), central macular thickness (CMT, µm), and mdIRC (µm) and their changes during the study period in the IVA and IVR groups were compared.

Exploring the Potential of Code-Free Custom GPTs in Ophthalmology: An Early Analysis of GPT Store and User-Creator Guidance.

Introduction: OpenAI recently introduced the ability to create custom generative pre-trained transformers (cGPTs) using text-based instruction and/or external documents using retrieval-augmented generation (RAG) architecture without coding knowledge. This study aimed to analyze the features of ophthalmology-related cGPTs and explore their potential utilities.

Methods: Data collection took place on January 20 and 21, 2024, and custom GPTs were found by entering ophthalmology keywords into the "Explore GPTS" section of the website.

Comparison of Propofol and Sevoflurane Anaesthesia in Terms of Postoperative Nausea-Vomiting Complication in Cardiac Surgery Patients Undergoing Enhanced Recovery After Surgery Protocol: A Prospective Randomized Study.

Objective: Postoperative nausea (PN) and vomiting (PONV) in cardiac surgery increases adrenergic stimulation, limits mobilization and oral intake, and can be distressing for patients. The primary aim of our study was to investigate the effect of sevoflurane and propofol anaesthesia on the incidence of PONV in cardiac surgery patients undergoing Enhanced Recovery After Surgery (ERAS) protocol.

Methods: Following ethics committee approval, 62 patients undergoing elective coronary artery bypass surgery with ERAS protocol were included in this prospective randomized study.

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.

Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe, life-threatening types. Among these, Primary Immune Regulatory Disorders (PIRDs) constitute a subset of IEIs characterized by diverse clinical phenotypes, prominently featuring severe atopy, autoimmunity, lymphoproliferation, hyperinflammation, autoinflammation, and susceptibility to malignancies. According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNFRSF9, SH2DIA, XIAP, CD27 (TNFRSF7), FAS (TNFRSF6), FASLG (TNFSF6), CASP10, CASP8, FADD, LRBA, STAT3, AIRE, ITCH, ZAP70, TPP2, JAK1, PEPD, FOXP3, IL2RA, CTLA4, BACH2, IL2RB, DEF6, FERMT1, IL10, IL10RA, IL10RB, NFAT5, TGFB1, and RIPK1 genes.

The Influence of Pre-operative Pain and Anxiety on Acute Postoperative Pain in Cardiac Surgery Patients Undergoing Enhanced Recovery after Surgery.

Objective: Perioperative multimodal analgesia is an important step in enhanced recovery after surgery (ERAS) care. Many factors, such as preoperative chronic pain and anxiety, may provide information about the expected postoperative pain. In this study, we evaluated preoperative pain and anxiety and investigate their effects on acute postoperative pain in patients undergoing elective cardiac surgery.

Real-World Outcomes of Intravitreal Anti-Vascular Endothelial Growth Factor Treatment for Diabetic Macular Edema in Türkiye: MARMASIA Study Group Report No. 1.

Objectives: This study aimed to report the demographic and clinical characteristics of diabetic macular edema (DME) patients treated with intravitreal injection (IVI) of anti-vascular endothelial growth factors (anti-VEGF) and provide an overview of outcomes during routine clinical practice in Türkiye.

Materials And Methods: This retrospective, real-world study included 1,372 eyes (854 patients) treated with a pro re nata protocol by 21 ophthalmologists from 8 tertiary clinics on the Asian side of the Marmara region of Türkiye (MARMASIA Study Group). Five cohort groups were established by collecting the patients' baseline and 3, 6, 12, 24, and 36-month follow-up data, where each subsequent cohort may include the previous.

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.

Objectives: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from infancy to adulthood, characterised by recurrent rhabdomyolysis episodes.

Dysfunctional personality beliefs and psychopathology in patients with central serous chorioretinopathy.

Objectives: To assess dysfunctional personality beliefs associated with specific personality disorders (PD), as well as psychopathological symptoms and psychological distress levels in central serous chorioretinopathy (CSC) patients.

Material And Methods: This cross-sectional study included acute and chronic CSC patients and age- and sex-matched healthy volunteers. Dysfunctional personality beliefs and psychopathological symptoms assessed with Personality Belief Questionnaire-Short Form and Symptom Check List-90 Revised (SCL-90-R), respectively, were compared between CSC patients and healthy volunteers and between acute and chronic CSC patients.

A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment.

Adenylate cyclase 3 (ADCY3) gene alterations have been found to be associated with obesity. However, few patients with homozygous mutations have been reported so far, and the follow-up procedure and treatment options have not been clarified. A 10-month-old female presented with increased appetite and weight gain.

Clinical Variability in a Family with Noonan Syndrome with a Homozygous Gene Variant in Two Individuals.

Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 () gene.

Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.

Identification of the causes of monogenetic common variable immunodeficiency (CVID) patients has rapidly increased in the last years by means of worldwide availability of appropriate genetic diagnostic methods. However, up to date, very limited numbers of reports demonstrating the role of geography, ethnicity, and consanguinity have been published. Here, we reported the first study of Turkish CVID patients and compared them with the results of three countries from America, Europe, and Asia.