Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.

Treatment Adherence, Internalised Stigma and Recovery Among Individuals Diagnosed With Schizophrenia in Eastern Turkey.

Introduction And Aim: This study aimed to assess the relationship between treatment adherence, internalised stigma, recovery and the mediating effect of internalised stigma on these relations in individuals diagnosed with schizophrenia.

Method: This study was conducted using a cross-sectional design. A purposive sample of 107 individuals diagnosed with schizophrenia receiving psychiatric outpatient care at outpatient clinics and community mental health services (CMHC) affiliated with SBU Van research and education hospital was recruited for this study.

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Intracranial Masson's Tumor: A Case Report.

This case report presents a unique instance of Masson's tumor, highlighting its atypical presentation and diagnostic challenges. A 19-year-old male patient underwent cranioplasty surgery after presenting with swelling on the frontal scalp. No history of trauma was reported.

KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.

Lung cancer remains a significant health challenge, characterized by aberrant tissue growth within the pulmonary system. Early carcinogenic events often involve genomic instability and the emergence of a mutator phenotype. In this study, we aimed to explore the mutator phenotype in 89 patients diagnosed with non-small-cell lung cancer (NSCLC).

Determination of complementary and alternative medicine use frequency and related factors in children with epilepsy: A descriptive Cross-Sectional study from eastern Turkey.

Purpose: The aim of this study is to determine the complementary and alternative medicine (CAM) methods used in epilepsy patients admitted to a paediatric neurology clinic in Turkey and to examine the factors affecting these methods.

Methods: This study was conducted between October 2022 and March 2023 by using a questionnaire form prepared in line with the literature to the parents (n = 172) of children who were under the age of 18 and who had been diagnosed with epilepsy for at least 1 year and who were followed up in the paediatric neurology outpatient clinic of a secondary care hospital in Van province of Turkey. The principles of scientific ethics and confidentiality of data were complied with in all stages of the study.

The Relationship Between DNA Mismatch Repair Status and Clinicopathologic Characteristics in Colon Cancer.

DNA mismatch repair (MMR) proteins are essential for repairing genetic mutations that occur during DNA replication. Deficiency of MMR proteins results in a phenotype called microsatellite instability (MSI), which occurs in Lynch syndrome as well as sporadic colorectal cancers (CRC), and it is associated with several clinicopathological features. We aimed to investigate the association of the loss of MMR proteins with clinicopathologic considerations in our CRC series.

Carotid artery stenting in unfavorable vascular anatomy: Effect of embolic protection filter use on periprocedural complications.

Objective: To investigate the effect of embolic protection device (EPD) use on periprocedural complications in patients with carotid artery stenosis with anatomical variations.

Method: The study retrospectively evaluated 185 patients who consecutively underwent carotid artery stenting between November 2020 and December 2023. Forty-four patients with difficult anatomical structures, anatomical variations in the common carotid artery (CCA) and internal carotid artery (ICA) (tortuosity, kinking, or coiling), and a CCA-ICA angle of >60 degrees were included in the sample.

Does having a family member with dementia affect health beliefs about changing lifestyle and health behaviour for dementia risk reduction?

Background: Dementia is a worldwide public health concern. Implementing lifestyle changes that target modifiable risk factors is crucial for reducing the risk of dementia. The aim of this study was to investigate the effect of having family members with dementia on individuals' health beliefs and tendencies towards adopting healthier lifestyles and behaviours.

Results of Allografts and Synthetic Grafts in Humeral Simple Bone Cysts.

Purpose Of The Study: Simple bone cysts (SBCs) are the most common benign bone lesions in childhood. There are many different methods in the treatment of SBCs. There is no consensus on which method to use in the treatment.

The clinical, functional, and radiological effect of long-term used immunosuppressive therapy for post-COVID-19 interstitial lung disease.

Background And Aim: Persistent interstitial lung disease (ILD) after COVID-19 infection can lead to severe loss of respiratory function and a decrease in the quality of life. There is no consensus regarding the treatment of post-COVID-19-ILD. This study aims to investigate the effectiveness of immunosuppressive treatment for this group of patients.

A Comprehensive Look at Maxillofacial Traumas: On the Basis of Orbital Involvement.

Introduction: Orbital wall fractures that may develop in maxillofacial traumas (MFTs) may cause ophthalmic complications (OCs). The aim of this study is to determine the frequency of orbital fractures (OFs) accompanying MFTs and findings suspicious for orbital traumatic involvement.

Materials And Methods: Computed tomography (CT) images of 887 patients who presented to the emergency department within a 1-year period with a history of MFT were retrospectively scanned.

Serum Specific Antibodies Do Not Seem to Have an Additional Role in the Diagnosis of Hypersensitivity Pneumonitis.

Background: We aimed to investigate the contribution of serum IgG testing to the history of exposure in the diagnosis of fibrotic hypersensitivity pneumonitis.

Methods: A single-center, retrospective, cross-sectional study including 63 patients pathologically diagnosed with fibrotic hypersensitivity pneumonitis in line with the guidelines of the American Thoracic Society. Descriptive statistics were presented and Kappa statistic was performed to evaluate the compatibility between panel and the history of exposure.

The significance of immunonutrition nutritional support in patients undergoing postoperative adjuvant chemotherapy for lung cancer: case-control study.

Background: In this study, the effect of postoperative early nutritional supplementation on the course of the disease was investigated in patients who were operated for non-small cell lung cancer and received adjuvant chemotherapy.

Methods: The study examined the data of patients who anatomical pulmonary resection for non-small cell lung cancer and who were treated with adjuvant chemotherapy at our clinic between January 2014 and January 2020. Patients who received early postoperative nutritional supplements and those who continued with a normal diet were compared in terms of complications, mortality, recurrence, and survival.

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.

Marshall-Smith syndrome (MSS) and Malan syndrome (MS) are both allelic disorders caused by mutations in the NFIX gene. MS is characterized by overgrowth, intellectual disability, distinctive facial features, and accelerated skeletal maturation. On the other hand, clinical features of MSS consist of advanced bone age, dysmorphic features, intellectual disability, and failure to thrive at birth.

Prognostic Value of Vertebral Bone Density in the CT Scans of Sepsis Patients Admitted to the Intensive Care Unit.

Aim: To evaluate the prognostic value of vertebral bone mineral density (BMD) and its relationship with mortality using the computed tomography (CT) scans of sepsis patients admitted to the intensive care unit.

Methods: In this retrospective study, patients diagnosed with sepsis at the intensive care unit between January and December 2022 were evaluated. Bone density was manually measured from the vertebral body using axial CT images.

Epidemiology and risk factors of 28-day mortality of hospital-acquired bloodstream infection in Turkish intensive care units: a prospective observational cohort study.

Objectives: To uncover clinical epidemiology, microbiological characteristics and outcome determinants of hospital-acquired bloodstream infections (HA-BSIs) in Turkish ICU patients.

Methods: The EUROBACT II was a prospective observational multicontinental cohort study. We performed a subanalysis of patients from 24 Turkish ICUs included in this study.

Percutaneous Treatment of Giant Hydatid Cysts and Cystobiliary Fistula Management.

Rationale And Objectives: To investigate the efficacy and safety of percutaneous treatment in cystic echinococcosis (CE) type 1 and 3a giant cysts (with at least one diameter>10 cm) according to the World Health Organization classification and to evaluate the management of complications, especially cystobiliary fistulas (CBFs).

Materials And Methods: This retrospective study included 66 patients with 68 CE1 and CE3a giant cysts treated with percutaneous catheterization between January 2016 and December 2021. The characteristics of the cysts, major and minor complications, time to catheter removal, and length of hospital stay were recorded.

Spirituality and Hope Levels of Lung Cancer Patients Who Had Surgery in Turkey.

This study explores the relationship between spirituality and hope levels in lung cancer patients. Cancer patients often use their spirituality as a way of coping. Among a sample of 124 Turkish lung cancer patients, spirituality levels were assessed using the Spiritual Orientation Scale (SOS) and hope levels were measured using the Herth Hope Scale (HHS).

Influence of a hyaluronan-binding system for sperm selection in intracytoplasmic sperm injection cycles on embryo morphokinetic parameters and in vitro fertilization cycle outcomes.

Purpose: Although the impact of the paternal contribution to embryo quality and blastocyst formation is a well-known phenomenon, the current literature provides insufficient evidence that hyaluronan-binding sperm selection methods improve assisted reproductive treatment outcomes. Thus, we compared the cycle outcomes of morphologically selected intracytoplasmic sperm injection (ICSI) with hyaluronan binding physiological intracytoplasmic sperm injection (PICSI) cycles.

Methods: A total of 2415 ICSI and 400 PICSI procedures of 1630 patients who underwent in vitro fertilization cycles using a time-lapse monitoring system between 2014 and 2018 were analyzed retrospectively.