Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

Identification of a new pathogenic ASTN1 p.R517X (c.1549C>T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.

Subclinical Myocardial Dysfunction Assessment Using Speckle Tracking Echocardiography in Patients With Psoriasis: A Pilot Meta-Analysis.

Introduction: Psoriasis is a systemic inflammatory disease associated with elevated cardiovascular risk due to inflammatory and oxidative stress. Two-dimensional speckle-tracking echocardiography (2D-STE) can detect both regional and global myocardial strain. Impairment of ventricular strain can assist in the early detection of myocardial dysfunction.

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Background: HIDEA syndrome (MIM: #618493) is a rare autosomal recessive disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye anomalies. We present the case of a Turkish female with developmental and epileptic encephalopathy, highlighting a novel compound heterozygous variation in the P4HTM gene.

Case Presentation: A 6-year and 11-month-old girl with early infantile epileptic encephalopathy and abnormal eye movements since the neonatal period has been presented to our clinic.

Serological prevalence of spp. at the livestock-human interface in Jordan.

Despite its endemic status in the Middle East, key knowledge gaps persist regarding the prevalence, transmission rate, and geographical distribution of both human and livestock brucellosis in Jordan. This study aimed to investigate the seroprevalence of human and livestock brucellosis as well as the incidence of brucellosis in humans in Jordan. A total of 500 human participants (202 exposed and 296 unexposed to livestock) were enrolled in the study.

Safety and efficacy of tisotumab vedotin with cervical cancers: A systematic review and meta-analysis.

Background: Tisotumab vedotin (TV) holds promise for treating recurrence or metastatic cervical cancer (r/mCC), with recent FDA approval for second-line use in recurrent or metastatic cases. Our research aims to evaluate TV's efficacy and safety in these patients, focusing on overall survival (OS) and progression-free survival (PFS) outcomes.

Methods: We searched five electronic databases in February 2024, retrieved articles, screened them based on inclusion and exclusion criteria, and assessed their quality.

Combined Stromal Vascular Fraction and Fractional CO2 Laser Therapy for Hypertrophic Scar Treatment: A Systematic Review and Meta-Analysis.

Background: Hypertrophic scars (HTSs) result from aberrant wound healing processes, leading to raised, thickened tissue with functional discomfort and cosmetic concerns. Current treatments, including corticosteroid injections and laser therapy, have limitations. Stromal vascular fraction (SVF) therapy and CO2 laser treatment offer promising avenues, with SVF therapy showing regenerative potential and CO2 laser therapy promoting precise tissue removal and wound healing.

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

FCH domain only 1 (FCHO1) is a key player in clathrin-mediated endocytosis, vital for various cellular processes, including immune regulation and cancer progression. However, the clinical implications of FCHO1 mutations, particularly in combined immunodeficiency, remain unclear. This systematic review aims to provide an objective analysis of the molecular genetics, clinical manifestations, and potential therapeutic targets associated with FCHO1 mutations.

General analysis of breast cancer patients tested for BRCA mutations and evaluation of acute radiotherapy toxicity.

Objective: The objective of our study is to evaluate breast cancer patients with BRCA1 or BRCA2 gene mutations and compare them with patients without these mutations. Specifically, we aim to assess the acute side effects of radiotherapy in both groups.

Methods: Data were collected from four participating centers, comprising information from 73 patients who underwent known mutation analysis and had complete data.

A Survey of the Turkish Oncology Group (TOG): Are the Oncologists Trained for Decision Making on Geriatric Cancer Patients?

Introduction: Most newly diagnosed cancers occur in older adults, and it is important to understand a patient's underlying health status when making treatment decisions. Therefore, clinicians need enhanced competencies and skills to effectively care for this population. However, most clinicians receive minimal to no training in geriatrics.

Transvaginal morcellation within an enclosed bag in gynecological surgeries: a comprehensive systematic review and analysis of safety, efficacy, and outcomes.

Purpose: This systematic review aims to comprehensively assess the safety and efficacy of transvaginal morcellation within an enclosed bag in gynecological surgeries, with a focus on its benefits, potential risks, and recommendations for its use.

Methods: We conducted a comprehensive search of Epistemonikos, Web of Science, Medline (PubMed), Scopus, and Cochrane databases for studies on transvaginal contained morcellation in adult patients undergoing gynecological surgeries. The review included 22 studies that met the inclusion criteria, encompassing diverse surgical procedures, patient profiles, and outcomes.

Exploring the Clinical Impact of RANK Pathway Inhibition in Advanced Breast Cancer: Insights From a Retrospective Study on CDK4/6 Inhibitors and Antiresorptive Therapy.

Background And Objective: Breast cancer (BC) remains a significant health concern, particularly in advanced stages where the prognosis is poor. The combination of endocrine therapy (ET) with cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) has improved outcomes for advanced BC (aBC) patients. However, resistance to CDK4/6i remains a challenge, with no validated biomarkers to predict response.

Parents' Attitude Towards Their Feverish Children in Buraydah, Saudi Arabia.

Background: Fever is a very common problem among pediatric age groups globally. Parents' adequate knowledge and practice make a huge difference in the areas of cost as well as time. The objective of this study is to determine parents' knowledge and practice about their feverish child and the socio-demographic characteristics associated with such knowledge and practice.

Hypogammaglobulinemia and infections in patients with multiple sclerosis treated with anti-CD20 treatments: a systematic review and meta-analysis of 19,139 multiple sclerosis patients.

Background: Recent years have seen the emergence of disease-modifying therapies in multiple sclerosis (MS), such as anti-cluster of differentiation 20 (anti-CD20) monoclonal antibodies, aiming to modulate the immune response and effectively manage MS. However, the relationship between anti-CD20 treatments and immunoglobulin G (IgG) levels, particularly the development of hypogammaglobulinemia and subsequent infection risks, remains a subject of scientific interest and variability. We aimed to investigate the intricate connection between anti-CD20 MS treatments, changes in IgG levels, and the associated risk of hypogammaglobulinemia and subsequent infections.

Multicenter Study on Breast Cancer in the Geriatric Population: Insights for Effective Treatment Strategies.

Objective: Breast cancer is common among women aged 65 and over. There is a significant lack of evidence regarding the treatment of breast cancer in patients in this age group due to the rare inclusion of these patients in clinical studies. However, it is known that survival in elderly patients with breast cancer is significantly reduced in those not receiving standard therapy.

Factors Influencing Anxiety Levels in Oncology Patients: A Study on the Impact of Earthquakes.

Objective: This study aims to explore the multifaceted factors influencing anxiety levels in oncology patients, with a specific focus on the impact of earthquakes in the context of Turkey. Our objective is to identify and understand sociodemographic, clinical, and lifestyle determinants associated with anxiety in cancer patients, examining how traumatic events, such as earthquakes, contribute to heightened anxiety levels.

Materials And Methods: A cross-sectional study was conducted, involving 149 oncology patients undergoing treatment at two prominent oncology centers in Turkey.

The use of lung ultrasound in evaluation of extravascular lung water in hemodialysis patients: Systematic review and meta-analysis.

Rationale And Objectives: Determining dry weight is crucial for optimizing hemodialysis, influencing efficacy, cardiovascular outcomes, and overall survival. Traditional clinical assessment methods for dry weight, relying on factors such as blood pressure and edema, frequently lack reliability. Lung ultrasound stands out as a promising tool for assessing volume status, given its non-invasiveness and reproducibility.

Assessing the antiviral potential of melatonin: A comprehensive systematic review.

This review assesses the antiviral potential of melatonin through comprehensive analysis of studies across human subjects, animal models, cell cultures, and in-silico simulations. The search strategy targeted relevant research until 22 June 2023, resulting in 20 primary studies after screening and deduplication. The findings highlight strong evidence supporting antiviral properties of melatonin.

Revisiting the Radical Radiotherapy-Radiochemotherapy Results in Anal Canal Cancers: (TROD Gastrointestinal Group Study 02-005).

Background And Aim: This study aimed to determine treatment outcomes and factors affecting prognosis in patients diagnosed with anal canal cancer who received radical radiotherapy (RT) or radiotherapy combined with chemotherapy (CT-RT) in radiation oncology centers in Turkey and compare the results with literature.

Material And Method: The study included 193 patients with anal canal cancer reported between 1995 and 2019, of which 162 had complete data. The study was conducted in 11 radiation oncology centers, and a joint database was shared among them.