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Novel Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome.
Genes (Basel)
December 2024
Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, 117198 Moscow, Russia.
The advent of next-generation sequencing (NGS) has revolutionized the analysis of genetic data, enabling rapid identification of pathogenic variants in patients with inborn errors of immunity (IEI). Sometimes, the use of NGS-based technologies is associated with challenges in the evaluation of the clinical significance of novel genetic variants. In silico prediction tools, such as SpliceAI neural network, are often used as a first-tier approach for the primary examination of genetic variants of uncertain clinical significance.
View Article and Find Full Text PDFDietary Interventions and Physical Activity as Crucial Factors in the Prevention and Treatment of Metabolic Dysfunction-Associated Steatotic Liver Disease.
Biomedicines
January 2025
University Clinical Hospital, 60-355 Poznań, Poland.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease worldwide and affects nearly 30% of the adult population and 10% of the pediatric population. It is estimated that this number will double by 2030. MASLD is one of the leading causes of hepatocellular carcinoma, cirrhosis, and liver transplantation, as well as a significant risk factor for cardiovascular disease and mortality.
View Article and Find Full Text PDFEpicardial Ablation for Arrhythmogenic Disorders in Patients with Brugada Syndrome.
Biomedicines
December 2024
Clinical and Rehabilitation Cardiology Division, San Filippo Neri Hospital, 00135 Rome, Italy.
Brugada syndrome (BrS) is an inherited arrhythmogenic disorder characterized by distinct electrocardiographic patterns and an increased risk of sudden cardiac death due to ventricular arrhythmias. Effective management of BrS is essential, particularly for high-risk patients with recurrent arrhythmias. While implantable cardioverter-defibrillator (ICD) is effective in terminating life-threatening arrhythmias, it does not prevent arrhythmia onset and can lead to complications such as inappropriate shocks.
View Article and Find Full Text PDFSpecialty laboratory testing for chronic abdominal pain in irritable bowel syndrome.
Scand J Gastroenterol
January 2025
Department of Gastroenterology, Hepatology, and Nutrition, Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
Background: Irritable bowel syndrome (IBS) is a common gastrointestinal disorder seen by both primary care providers (PCPs) and gastroenterologists, and further diagnostic testing is generally discouraged unless red-flag symptoms are present.
Aims: Examine if advanced serologic testing for chronic abdominal pain in IBS patients followed society-specific guidelines and evaluate the diagnostic accuracy of these tests.
Methods: The study involved a retrospective cross-sectional analysis of adults aged 18 and older who were seen at our institution between 2013 and 2018.
Altered olfactory responses in Fmr1 KO mice.
Sci Rep
January 2025
The Department of Cellular and Integrative Physiology, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results.
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