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Clinical characteristics, complications and satisfaction of megameatus intact prepuce (MIP) hypospadias variant: a 15 year retrospective study.
BMC Urol
January 2025
Department of Urology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nan Li Shi Lu Street No.56, Beijing, 100045, China.
Background: To analyze the clinical characteristics, complications and patients satisfaction of MIP hypospadias variant.
Methods: A retrospective analysis was performed for 31 patients with MIP admitted to our hospital from January 2008 to February 2023. All enrolled patients underwent telephone follow-up and a survey was conducted on the satisfaction of patients and their families.
Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model: endophenotypic target for ASD.
Transl Psychiatry
January 2025
Department of Neuropsychiatry, Dongguk University, School of Medicine, Seoul, Republic of Korea.
Autism spectrum disorder (ASD) is linked to ion channel dysfunction, including chloride voltage-gated channel-4 (CLCN4). We generated Clcn4 knockout (KO) mice by deleting exon 5 of chromosome 7 in the C57BL/6 mice. Clcn4 KO exhibited reduced social interaction and increased repetitive behaviors assessed using three-chamber and marble burying tests.
View Article and Find Full Text PDFEvaluating polyglutamine protein aggregation and toxicity in transgenic Caenorhabditis elegans models of Huntington's disease.
Methods Cell Biol
January 2025
State University of Minas Gerais, Department of Biomedical Sciences and Health, Passos, MG, Brazil. Electronic address:
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by a repeat of the cytosine-adenine-guanine trinucleotide (CAG) in the huntingtin gene (HTT). This results in the translation of a mutant huntingtin (mHTT) protein with an abnormally long polyglutamine (polyQ) repeat. The pathology of HD leads to neuronal cell loss, motor abnormalities, and dementia.
View Article and Find Full Text PDFMixed reality for preoperative planning and intraoperative assistance of surgical correction of complex congenital heart defects.
J Thorac Cardiovasc Surg
January 2025
Division of Cardiology, The Hospital for Sick Children, Toronto, ON, Canada; Center for Image Guided Innovation and Therapeutic Intervention, The Hospital for Sick Children, Toronto, ON, Canada.
Objectives: Mixed reality (MixR) is an innovative visualization tool that presents virtual elements in a real-world environment, enabling real-time interaction between the user and the combined digital/physical reality. We aimed to explore the feasibility of MixR in enhancing preoperative planning and intraoperative guidance for the correction of various complex congenital heart defects (CHDs).
Methods: Patients underwent cardiac computed tomography or cardiac magnetic resonance and segmentation of digital imaging and communications in medicine (DICOM) images was performed.
Analysis of clinical features and prognosis in cardiac amyloidosis patients from Spanish hospitals (2016-2021).
Rev Clin Esp (Barc)
January 2025
Institute for the Improvement of Health Care (IMAS Foundation), Madrid, Spain.
Introduction And Objectives: Cardiac amyloidosis (CA) is a prevalent yet underdiagnosed heart condition characterized by the abnormal accumulation of amyloid fibres, frequently resulting in heart failure (HF), particularly in older people. Despite advancements in non-invasive diagnostic techniques and treatments, the epidemiology of CA patients remains inadequately understood. This nationwide retrospective observational study sought to comprehensively investigate CA patients' characteristics, mortality, and readmission patterns.
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