Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/jpc.1_13604 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Intravitreal enzyme replacement therapy slows retinopathy in late infantile ceroid lipofuscinosis type 2.
Neuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFRetinopathy in Mucopolysaccharidoses.
Ophthalmology
November 2024
Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; School of Biological Sciences, Medicine and Health, The University of Manchester, Manchester, United Kingdom. Electronic address:
Purpose: To determine the pattern(s) of onset, variation, and progression of retinopathy in patients with Mucopolysaccharidosis (MPS).
Design: Prospective, longitudinal, observational study.
Participants: Between November 2015 and March 2023, individuals with MPS were recruited from Ophthalmology clinics at the Manchester Royal Eye Hospital, United Kingdom.
Tyrosine phosphatase SHP2 in solid tumors - bull's eye for targeted therapy?
Front Immunol
March 2024
Department of General and Visceral Surgery, Center for Surgery, Medical Center University of Freiburg, Freiburg, Germany.
Encoded by , the Src-homology 2 domain-containing phosphatase 2 (SHP2) integrates signals from various membrane-bound receptors such as receptor tyrosine kinases (RTKs), cytokine and integrin receptors and thereby promotes cell survival and proliferation. Activating mutations in the gene may trigger signaling pathways leading to the development of hematological malignancies, but are rarely found in solid tumors. Yet, aberrant SHP2 expression or activation has implications in the development, progression and metastasis of many solid tumor entities.
View Article and Find Full Text PDFContrast-enhanced Ultrasonography for Diagnosis of Small Intestinal Leiomyosarcoma with Hepatic Metastasis: A Clinical Report of One Case and Review of the Literature.
Curr Med Imaging
October 2023
Department of Ultrasound, Zibo Central Hospital, Zibo, China.
Background: Small intestinal leiomyosarcoma is a rare malignant tumor of the gastrointestinal tract. Clinical symptoms are atypical and can be complicated by gastrointestinal bleeding and intestinal obstruction.
Case Presentation: We report a case of a 73-year-old patient with small intestinal smooth muscle sarcoma with hepatic metastasis.
Multipoint surface electromyography measurement using bull's-eye electrodes for wide-area topographic analysis.
J Physiol Anthropol
October 2023
Design Research Institute, Chiba University, 1-33 Yayoi-Cho, Inage-Ku, Chiba City, 2638522, Japan.
Background: Surface electromyography (sEMG) is primarily used to analyze individual and neighboring muscle activity. However, using a broader approach can enable simultaneous measurement of multiple muscles, which is essential for understanding muscular coordination. Using the "bull's-eye electrode," which allows bipolar derivation without directional dependence, enables wide-area multipoint sEMG measurements.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!