Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.

Expression Profile of TGFB1 Gene in Pediatric Patients with Isolated Bicuspid Aortic Valve.

Studies on the genetic basis of bicuspid aortic valve (BAV), characterized by a configuration of the aortic valve with two leaflets instead of three, are insufficient. This study aimed to elucidate the possible relationship between BAV and TGF-β1 gene expression levels. Forty-eight pediatric patients diagnosed with isolated BAV and 50 healthy children with innocent heart murmurs were included in the study.

Healthy Lifestyle Behaviors of Research Assistants and Final-Year Students in the Medical Faculty.

This study aimed to identify the health-related behaviors and associated factors among research assistants and final-year students at a Faculty of Medicine. In this cross-sectional study, a total of 712 assistant physicians and final-year medical students participated. Data collection involved using a survey form to inquire about participants' sociodemographic characteristics and the "Healthy Lifestyle Behavior Scale II (HPLP II).

Physician and Patient Preferences for Oral Anticoagulation Therapy Decision Making in Atrial Fibrillation: Results From a National Best-Worst Scaling Survey in Türkiye.

Atrial fibrillation (AF) is the most common cardiac dysrhythmia and a common cause of ischemic stroke. Stroke prevention with oral anticoagulation (OAC) is the cornerstone of AF management. Patients and their treating physicians may have different views on different attributes of OACs.

Impact of obesity on subarachnoid hemorrhage-induced cerebral vasospasm: An experimental rat model.

Aim: Obesity has emerged as a critical risk factor for various cerebrovascular diseases. Studies have demonstrated the detrimental effects of obesity on vascular health, including endothelial dysfunction, inflammation, and oxidative stress, which may exacerbate vascular complications following hemorrhagic stroke. In this study, the effect of obesity on the severity of cerebral vasospasm after subarachnoid hemorrhage was investigated.

First-Generation Anti-Obesity Medications.

The development of second-generation anti-obesity medications (AOMs) has transformed the treatment of obesity. However, the first-generation AOMs are still essential tools in the treatment of obesity. The decision of which AOM to initiate must be individualized taking into account patient preference, safety, tolerability, cost, and supply.

Optimizing hexanoic acid biosynthesis in Saccharomyces cerevisiae for the de novo production of olivetolic acid.

Medium chain fatty acids (MCFAs) are valuable platform compounds for the production of biotechnologically relevant chemicals such as biofuels and biochemicals. Two distinct pathways have been implemented in the yeast Saccharomyces cerevisiae for the biosynthetic production of MCFAs: (i) the mutant fatty acid biosynthesis (FAB) pathway in which the fatty acid synthase (FAS) complex is mutated and (ii) a heterologous multispecies-derived reverse β-oxidation (rBOX) pathway. Hexanoic acid has become of great interest as its acyl-CoA ester, hexanoyl-CoA, is required for the biosynthesis of olivetolic acid (OA), a cannabinoid precursor.

Assessment of Non-Vitamin K Antagonist Oral Anticoagulant Dosing Patterns in Turkish Patients with Non-Valvular Atrial Fibrillation: A Multicenter, Cross-Sectional Study with Insights from the ASPECT-NOAC Study.

Objective: We aimed to assess the real-world label adherence of non-vitamin K antagonist oral anticoagulant (NOAC) dosing patterns, including apixaban, edoxaban, and rivaroxaban, in Turkish patients with atrial fibrillation.

Methods: This was an observational, prospective, cross-sectional, multicenter study. Patients with atrial fibrillation (AF) who were prescribed NOACs within the last 4 months were recruited from 34 cardiology clinics in Türkiye.

A proof-of-concept study to investigate the radiolabelling of human mesenchymal and hematopoietic stem cells with [Zr]Zr-Df-Bz-NCS.

Background: The transplantation of hematopoietic stem and progenitor cells (HSPCs) or mesenchymal stromal/stem cells (MSCs) for the treatment of a wide variety of diseases has been studied extensively. A challenge with cell-based therapies is that migration to and retention at the target site is often difficult to monitor and quantify. Zirconium-89 (Zr) is a positron-emitting radionuclide with a half-life of 3.

The Effects of Lamium garganicum L. Subsp. lasioclades (Stapf.) R. Mill Plant Against Fibroblast (U2OS Cell), Acetylcholinesterase, Glutathione S-Transferase: An In Vitro, In Silico Biological Activity Screening Study.

In this study, some biological activities of extracts of Lamium garganicum subsp. lasioclades (Lgl) have been evaluated as well as identified the phenolic composition. Concentration ranges of 31.

Deep learning model using continuous skin temperature data predicts labor onset.

Background: Changes in body temperature anticipate labor onset in numerous mammals, yet this concept has not been explored in humans. We investigated if continuous body temperature exhibits similar changes in women and whether these changes may be linked to hormonal status. Finally, we developed a deep learning model using temperature patterning to provide a daily forecast of time to labor onset.

Is It Necessary to Endoscopically Evaluate the Anastomosis in Robotic or Laparoscopic Surgical Procedures for Colorectal Cancer?

In the surgical treatment of colorectal cancers, disease-free survival and life expectancy are inversely proportional to the increase in complications. We evaluated the superiority of colonoscopy and air and water tests in detecting anastomotic leaks in sigmoid and rectosigmoid junction colon cancers. Data of patients who underwent robotic/laparoscopic surgical procedures for sigmoid and rectosigmoid junctional colon cancers at a single center between January 2018 and February 24 were retrospectively evaluated.

Adaptation and validation of the Parents' Self-stigma Scale into Turkish and its association with parenting stress and parental self-efficacy.

Objectives: In the present era, parents frequently stigmatize themselves for their children's negative behaviors and inadequate social skills. Parents' self-stigma (PSS) may lead to a decrease in parental self-efficacy and quality of marital and family life. In light of these reasons, the principal objective of this study to assess the validity and reliability of the Turkish version of the PSS Scale (PSSS) as developed by Eaton et al.

Outcomes of Surgical and Endovascular Treatment of Intracranial Aneurysms: A Single-Center Analysis of 1183 Patients.

Aim: To compare the treatment outcomes of surgical and endovascular methods in patients with intracranial aneurysms.

Material And Methods: A total of 1183 patients [722 (61%)] female and 461 [(39%) male] with intracranial aneurysms, including 615 with subarachnoid hemorrhage (SAH) and 568 without hemorrhage, were retrospectively reviewed.

Results: The mean age of patients was 51.

Venous Thromboembolism Prophylaxis in Patients Treated for Acute Lymphoblastic Leukemia: A Comprehensive Systematic Review and Meta-Analysis.

Acute lymphoblastic leukemia (ALL) is a common malignancy in children, often treated with intensive chemotherapy regimens. Venous thromboembolism (VTE) poses a significant risk during ALL treatment, leading to suboptimal outcomes. Thromboprophylaxis is crucial in mitigating this risk, but its efficacy and safety remain uncertain.

Improving CsOAC Activity in Saccharomyces cerevisiae for Directed Production of Olivetolic Acid through Rational Design.

Olivetolic acid (OA) is an essential precursor in the cannabinoid biosynthesis. It is produced through a unique interaction between the two proteins, olivetol synthase (CsOLS) and olivetolic acid cyclase (CsOAC). When the OA biosynthesis is transferred to Saccharomyces cerevisiae, olivetol (OL) is produced as a side product, even with a high enhancement of copy number of CsOAC.

The Intersection of Machine Learning and Wireless Sensor Network Security for Cyber-Attack Detection: A Detailed Analysis.

This study provides a thorough examination of the important intersection of Wireless Sensor Networks (WSNs) with machine learning (ML) for improving security. WSNs play critical roles in a wide range of applications, but their inherent constraints create unique security challenges. To address these problems, numerous ML algorithms have been used to improve WSN security, with a special emphasis on their advantages and disadvantages.

Automated Assessment of Right Atrial Pressure From Ultrasound Videos Using Machine Learning.

Background: Early recognition of volume overload is essential for heart failure patients. Volume overload can often be easily treated if caught early but causes significant morbidity if unrecognized and allowed to progress. Intravascular volume status can be assessed by ultrasound-based estimation of right atrial pressure (RAP), but the availability of this diagnostic modality is limited by the need for experienced physicians to accurately interpret these scans.

an-QNA: An Adaptive Nesterov Quasi-Newton Acceleration-Optimized CMOS LNA for 65 nm Automotive Radar Applications.

An adaptive Nesterov quasi-Newton acceleration (an-QNA)-optimized low-noise amplifier (LNA) is proposed in this paper. An optimized single-ended-to-differential two-stage LNA circuit is presented. It includes an improved post-linearization (I) technique to enhance the linearity.

A two-step identification approach for an extended nonlinear double-capacitor model.

Equivalent circuits are one of the most used models for Li-ion cells in the automotive area. However, it is a challenge to these models to be able to capture the cell discharge capacity under different loads, while still being accurate on both continuous charge and dynamic tests, fast to compute, and easy to parametrize from non-specialized data. To tackle this challenge, this paper proposes an extension of the nonlinear double capacitor model by increasing its order, parameter dependency with C-rate, and an identification procedure that exploits the pseudo-linear nature of the problem to find the parameter maps.