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.

The Efficacy of Shear Wave Elastography in Evaluating Treatment Response to US-Guided Steroid Injection in Patients with Carpal Tunnel Syndrome.

Rationale And Objectives: This study aimed to evaluate the efficacy of ultrasound (US)-guided local steroid injection in carpal tunnel syndrome (CTS) using shear wave elastography (SWE).

Materials And Methods: A total of 47 wrists from 41 patients diagnosed with mild to moderate idiopathic CTS, based on clinical and electrophysiological criteria, were enrolled between June and October 2024. All participants underwent US-guided local steroid injection.

Evaluation of HOTAIR, HOXD8, HOXD9, HOXD11 gene expression levels in Turkish patients with acute and chronic myeloid leukemia: A single center experience.

Homeobox (HOX) transcript antisense RNA (HOTAIR) and HOX genes are reported to be more expressed in various cancers in humans in recent studies. The role of HOTAIR and HOXD genes in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) is not well known. In this study, expression levels of HOXD8, HOXD9 and HOXD11 from HOXD gene family and HOTAIR were determined from peripheral blood samples of 30 AML and 30 CML patients and 20 healthy volunteers by quantitative Real Time PCR.

COMPARABLE OUTCOMES AFTER BUSULFAN- OR TREOSULFAN-BASED CONDITIONING FOR ALLO-HSCT IN CHILDREN WITH ALL-RESULTS OF FORUM.

The superiority of TBI-based versus chemotherapy-conditioning for allo-HSCT in children with ALL has been established in the international, prospective phase-III FORUM study (#NCT01949129), randomizing 417 patients ≤ 18 years at diagnosis (4-21 years at HSCT) in CR, transplanted from HLA-matched sibling or unrelated donors. Due to the unavailability of TBI in some regions and to accommodate individual contraindications, this study reports the pre-specified comparison of outcomes of patients receiving busulfan-based (BU) or treosulfan-based (TREO) regimens from 2013 to 2018. 180 and 128 patients (median age 9.

The Effect of Ultrasound-Guided Erector Spinae Plane Block on Postoperative Opioid Consumption and Respiratory Recovery in Laparoscopic Sleeve Gastrectomy: A Randomized Controlled Study.

Background: The aim of this prospective, randomized, controlled study was to evaluate the effect of ultrasound (US)-guided bilateral erector spinae plane (ESP) block on postoperative opioid consumption and respiratory recovery in patients with obesity undergoing laparoscopic sleeve gastrectomy (LSG).

Methods: The study was conducted on 40 patients scheduled for LSG. The patients were randomly allocated into either the ESP block group or the control group.

Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.

Mucopolysaccharidosis IVA (MPS IVA; Morquio syndrome) is a lysosomal storage disorder and features systemic skeletal dysplasia that is caused by defective Nacetylgalactosamine-6-sulfate sulfatase (GALNS). Although there are convincing data for hematopoietic stem cell transplantation (HSCT) in certain types of MPS, the studies are limited for MPS IVA and more data is still pending to show the efficacy/safety of HSCT. This study included 3 girls and 7 boys, with a median age of 75,5 months (35-186 months), who underwent allogeneic HSCT for severe MPS IVA between February 12, 2021, and March 10, 2023.

The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory.

Background/aim: The application of next-generation sequencing (NGS) technology in the genetic investigation of hereditary cancer is important for clinical surveillance, therapeutic approach, and reducing the risk of developing new malignancies. The aim of the study was to explore genetic predisposition in individuals referred for hereditary cancer.

Materials And Methods: A total of 8,261 individuals were referred for multigene genetic testing, during the period 2020-2023, in the laboratory, and underwent multigene genetic testing using NGS.

Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study.

Immunodeficiency-Centromeric instability-Facial dysmorphism (ICF) syndrome is an inborn error of immunity characterized by progressive immune dysfunction and multi-organ disease usually treated with antimicrobial prophylaxis and immunoglobulin substitution. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment, but data on outcome are scarce. We provide a detailed description of disease characteristics and HSCT outcome in an international cohort of ICF syndrome patients.

Long-term obstetric, perinatal, and surgical complications in singleton pregnancies following previous cesarean myomectomy: a retrospective multicentric study.

Objectives: The safety of cesarean myomectomy has been proven by previous studies. Our study aimed to reveal the long-term perinatal, obstetric, and surgical outcomes of cesarean myomectomy (CM) by comparing different CM techniques.

Material And Methods: This retrospective multicentric case-control study involved 7 hospitals and included 226 singleton pregnancies that underwent repeated cesarean section (CS) between 2015 and 2020.

Efficacy of everolimus plus hormonal treatment after cyclin-dependent kinase inhibitor; real-life experience, A TOG study.

Purpose: In advanced breast cancer, endocrine therapy is preferred in the absence of visceral crisis. Cyclin-dependent kinase inhibitors (CDKi) are the gold standards. The selection of subsequent treatments after CDKi treatment is still controversial, and the efficacy of everolimus (EVE) combinations is unknown.

Case report: Immunotherapy guided by molecular profiling of tumors: illustrative cases and literature review.

Predictive biomarkers are necessary for the identification of immunotherapy-responsive patients. Tumor mutation burden (TMB), as determined by next-generation sequencing (NGS), and PD-L1 expression, as evaluated by Immunohistochemistry (IHC), are the biomarkers most frequently employed in clinical practice. In addition, microsatellite instability (MSI) was the first biomarker to demonstrate immunotherapy efficacy irrespective of the type of tumor and possesses a high predictive value.

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.

Background: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored.

Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates.

Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia.

Allogeneic hematopoietic stem cell transplantation (HSCT) is the only established curative option for Fanconi anemia (FA)-associated bone marrow failure (BMF)/aplastic anemia (AA) and acute myeloid leukemia (AML)/myelodysplastic syndrome (MDS). We performed a retrospective multicenter study on 813 children with FA undergoing first HSCT between 2010 and 2018. Median duration of follow-up was 3.

Evaluation of the efficacy and safety of nivolumab in the second- or later-line treatment of patients with locally advanced/metastatic non-small cell lung cancer in Türkiye: a retrospective multicenter non-interventional registry study.

Objective: To evaluate the efficacy and safety of nivolumab in the second-line (2L) or later-line (LL) treatment of patients with locally advanced/metastatic non-small cell lung cancer (NSCLC) in real-life setting in Türkiye.

Methods: This study was designed as a national, multi-center, retrospective study. The study population was evaluated in two groups for the line of nivolumab therapy: those receiving nivolumab in the 2L (Group 2L) and third-line (3L) or LL (Group 3L/LL).

A multicenter, retrospective archive study of radiological and clinical features of ALK-positive non-small cell lung cancer patients and crizotinib efficacy.

To evaluate radiological and clinical features in metastatic anaplastic lymphoma kinase+ non-small cell lung cancer patients and crizotinib efficacy in different lines. This national, non-interventional, multicenter, retrospective archive screening study evaluated demographic, clinical, and radiological imaging features, and treatment approaches in patients treated between 2013-2017. Totally 367 patients (54.

Quantitative evaluation of metamorphopsia with M-CHARTS™ and evaluation of retinal morphologic changes by optical coherence tomography before and after pars plana vitrectomy in patients with idiopathic epiretinal membrane.

Purpose: We aimed to quantitatively evaluate metamorphopsia pre- and postoperatively in patients with idiopathic epiretinal membrane(iERM) using M-CHARTS™ and to evaluate the relationship between morphological changes in retinal layers on optical coherence tomography (OCT) and metamorphopsia scores.

Materials And Methods: This prospective study included 42 patients followed in Akdeniz University Hospital Ophthalmology Clinic diagnosed with iERM by fundus examination and OCT between 2020-2022. Detailed ophthalmologic findings, visual acuities, metamorphopsia scores, and OCT parameters of all patients were recorded.

COVID-19 disease in children and adolescents following allogeneic hematopoietic stem cell transplantation: A report from the Turkish pediatric bone marrow transplantation study group.

Background: Data on the risk factors and outcomes for pediatric patients with SARS-CoV-2 infection (COVID-19) following hematopoietic stem cell transplantation (HSCT) are limited.

Objectives: The study aimed to analyze the clinical signs, risk factors, and outcomes for ICU admission and mortality in a large pediatric cohort who underwent allogeneic HSCT prior to COVID-19 infection.

Method: In this nationwide study, we retrospectively reviewed the data of 184 pediatric HSCT recipients who had COVID-19 between March 2020 and August 2022.

Marriage and childbearing in patients with epilepsy in Turkey.

Introduction: For epilepsy, a common neurological disorder, brings psychosocial challenges like stigma, employment difficulties, and barriers to marriage and childbearing. Stigma often stems from misconceptions and societal beliefs, particularly in less developed regions like Turkey. However, research on the marital and childbearing experiences of epilepsy patients in such settings is limited.

The clinical features, treatment and prognosis of neutropenic fever and Coronavirus disease 2019 results of the multicentre teos study.

This multicentre (22 centres in Turkey) retrospective cohort study aimed to assess the clinical outcomes of patients with neutropenic fever and SARS-CoV-2 positivity. Study period was 15 March 2020-15 August 2021. A total of 170 cases (58 female, aged 59 ± 15.

Efficacy and Reliability of T-Cell-Depleted Haploidentical Stem Cell Transplantation in Hematologic Disorders: A Retrospective Study.

Background: A promising recent strategy for haploidentical transplantation is the depletion of T lymphocytes based on the selective elimination of T cells by manipulation, which enables a very low incidence of nonrelapse mortality and graft-vs-host disease. It is more expensive than conventional unmanipulated methods and requires dedicated transplant centers and sufficient stem cell processing facilities. This retrospective study aimed to evaluate the relapse, survival, and clinical data of the patients and to analyze the outcomes of the technique.

Newborn screening for sickle cell anemia in Antalya, Türkiye.

Background: In a screening study conducted on adults, the prevalence of sickle cell traits in Antalya was found to be 0.24%. Since no screening studies have been conducted in the neonatal period in our region, the exact incidence has not been determined.