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.

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.

Comparative effectiveness of silver-coated implants in periprosthetic infection prevention: A systematic review and meta-analysis.

Introduction: Despite the implementation of numerous preventive measures in recent years, the persistent challenge of periprosthetic infections remains. Among the various strategies, metallic modification of implants, particularly with silver, has emerged as a promising avenue. Silver's antimicrobial properties, coupled with its low human toxicity, render it an appealing option.

Pathological Examination in Pilonidal Sinus Surgery: Evaluating Necessity and Cost-Effectiveness: A 10-Year Retrospective Analysis.

Background: Malignancy in pilonidal sinus disease (PSD) is rare, with squamous cell carcinoma (SCC) being the most common type. This study aims to assess the incidence of malignancy in PSD and identify risk factors to guide more targeted pathological examination strategies.

Methods: A retrospective analysis was conducted on 1505 patients who underwent surgical excision of PSD between January 1, 2014, and December 31, 2023.

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).

Comparison of Early Postoperative Outcomes of Omentopexy and Clips along the Staple Line During Laparoscopic Sleeve Gastrectomy: A Randomized Study.

Background: We aimed to compare the omentopexy and clipping reinforcement methods performed along the staple line during laparoscopic sleeve gastrectomy (LSG) in terms of the effectiveness on postoperative bleeding.

Methods: In this prospective randomized controlled study, patients were divided into two groups: clips group (CG) and omentopexy group (OG). The groups were compared in terms of postoperative bleeding, duration of surgery, length of hospital stay, hospital readmissions in the postoperative first 30-days.

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.

Comparison of Percutaneous Core Needle Biopsy Results in Patients Who Previously Underwent Open and Robot-Assisted Kidney Transplantation.

The objective of this study was to investigate the safety and efficacy of percutaneous graft biopsy, specifically in patients who have undergone robotic kidney transplantation, a topic that has received limited attention in the existing literature. While percutaneous graft biopsy is well established in patients who have undergone open transplantation, its application in robotic transplantation remains relatively unexplored. A retrospective analysis was conducted on patient records spanning from 2013 to 2024, focusing on those who underwent graft biopsy due to acute graft dysfunction.

Development and Validation of the GAASThyriC Model for Predicting Patients with Suboptimal Clinical Response After Laparoscopic Sleeve Gastrectomy and a Practical Calculator: A Retrospective Cohort Study.

Background: It might not be possible to achieve the desired outcome in every patient following bariatric surgery, even though every patient is thoroughly examined before surgery. This study aimed to develop a regression model based on parameters that affect weight loss success in patients scheduled for laparoscopic sleeve gastrectomy (LSG) and thus preoperatively predict whether the patients will have an optimal clinical response in terms of weight loss at the end of the first year.

Materials And Methods: Between January 2018 and August 2022, patients who underwent LSG were analyzed retrospectively.

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.

Introduction: Griscelli syndrome type 2 (GS2) and neurofibromatosis type 1 (NF1) are both rare genetic disorders, but their coexistence has not been documented prior to this report.

Case Presentation: We present the case of a 4-year-old girl initially diagnosed with GS2 due to albinism and immunodeficiency, and later with NF1, manifested by the development of multiple café-au-lait macules (CALMs) and MRI findings. The patient was the second child of consanguineous parents and exhibited symptoms early, with silver-gray hair at birth and subsequent health complications at 9 months.

Evaluation of candidemia risk factors and species distribution in intensive care units among patients with and without COVID-19.

Objectives: To assess the risk variables related to the types of candidemia for each patient, who was admitted into the intensive care unit regardless of the patient with or without complete diagnosis of COVID-19, during the period of March 2019 to December 2022.

Methods: The evaluation comparison of demographic and clinical data of COVID-19 positive and negative patients with candidemia confirmed in blood, 113 cases were assessed. Variables such as gender, age, age of hospitalization, history of hospitalization, concurrently infection, The acute physiology and chronic health evaluation-II scores, comorbidity checking, intubation, central venous catheter use, parenteral nutrition use, steroid use, antibiotic use, lymphopenia, and laboratory variables were evaluated.

Outcome and Factors Related to Isolated Liver Metastasis due to Breast Cancer.

Objective: To determine the associated risk factors for isolated liver metastasis in breast cancer patients and to detect the prognostic factors related to survival.

Study Design: Analytical study. Place and Duration of the Study: Department of General Surgery, The University of Health Sciences, Istanbul, Turkiye, from January 2011 to November 2020.

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the Gene.

Introduction: Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed "stuck-on" chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic/likely pathogenic variants in the enhancer of zeste homolog 2 () gene are responsible for WS.

Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

Purpose: Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.

The role of neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and systemic immune inflammation index in predicting the necessity for surgery and therapeutic surgery in patients with anterior abdominal stab wounds.

Background: In this diagnostic accuracy study, we examined the effectiveness of neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and systemic immune inflammation index (SII) in predicting the need for surgical intervention in patients with anterior abdominal stab wounds (AASW) who exhibit unclear findings on physical examination yet remain hemodynamically stable.

Methods: Over a 7-year period, patients with AASW were retrospectively analyzed. Patients were divided into two groups as surgical (SG) and nonsurgical group (nSG).

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Purpose: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST).

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Autosomal dominant sensorineural hearing loss (ADSNHL) is a genetically heterogeneous disorder caused by pathogenic variants in various genes, including MYH14. However, the interpretation of pathogenicity for MYH14 variants remains a challenge due to incomplete penetrance and the lack of functional studies and large families. In this study, we performed exome sequencing in six unrelated families with ADSNHL and identified five MYH14 variants, including three novel variants.

Comparing the efficacy of regorafenib and 5-fluorouracil-based rechallenge chemotherapy in the third-line treatment of metastatic colorectal cancer.

Background: The optimal treatment for metastatic colorectal cancer (mCRC) after the second line is still controversial. Regorafenib has been the standard of care in this setting as it improved overall survival (OS) compared to placebo. In real-world practice chemotherapy rechallenge is also a preferred option even though supporting evidence is not enough.

Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.

Purpose: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. The detailed immune responses are not explored widely. We investigated known and novel immune alterations in lymphocyte subpopulations and their association with clinical symptoms in a well-defined ICF cohort.

Is there any difference in mortality rates of atrial fibrillation detected before or after ischemic stroke?

Background And Purpose:

Relationship between adiponectin and copeptin levels with long-term cardiovascular mortality in ST-segment elevation myocardial infarction after percutaneous coronary intervention.

Objective: The aim of this study was to determine adiponectin and copeptin levels that might be prognostic for cardiovascular mortality (CvsM) in ST-segment elevation myocardial infarction (STEMI) patients who had percutaneous coronary intervention (PCI).

Methods: Patients who underwent PCI between November 2010 and April 2011 were enrolled and followed for more than eight years. The baseline, demographic and angiographic findings, in-hospital follow up, laboratory results including adiponectin and copeptin levels, and echocardiographic data of the patients were evaluated.