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Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life.
J Cardiovasc Dev Dis
April 2024
Department of Public Health and Pediatric Sciences, University of Torino, 10133 Torino, Italy.
Background: The diagnosis of familial hypercholesterolemia (FH) in children is primarily based on main criteria including low-density lipoprotein cholesterol (LDL-C) levels, increased in the proband and relatives, and its inheritance. Two other relevant parameters are symptoms, rarely occurring in children, as rare are the FH homozygous patients, and the mutation detection of related genes. The latter allows the final diagnosis, although it is not commonly available.
View Article and Find Full Text PDFA mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
Clin Genet
April 2024
ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Recently, pathogenic expansions (range 40-64 CAG repeats) in the HTT gene have been found in patients diagnosed with pure frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS). We report a mother with Huntington's disease (HD) associated with motor neuron disease (MND) signs and her daughter suffering from ALS with subtle signs of HD, both carrying a pathogenic allele of the HTT gene (i.e.
View Article and Find Full Text PDFExome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
J Med Genet
November 2023
The Genetics Institute, Rambam Health Care Campus, Haifa, Israel
Background: SUMOylation involves the attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on thousands of substrates with target-specific effects on protein function. Sentrin-specific proteases (SENPs) are proteins involved in the maturation and deconjugation of SUMO. Specifically, SENP7 is responsible for processing polySUMO chains on targeted substrates including the heterochromatin protein 1α (HP1α).
View Article and Find Full Text PDFCellular Biomechanic Impairment in Cardiomyocytes Carrying the Progeria Mutation: An Atomic Force Microscopy Investigation.
Langmuir
December 2022
Cardiovascular Institute & Adult Medical Genetics, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado80045, United States.
Given the clinical effect of progeria syndrome, understanding the cell mechanical behavior of this pathology could benefit the patient's treatment. Progeria patients show a point mutation in the lamin A/C gene (LMNA), which could change the cell's biomechanical properties. This paper reports a mechano-dynamic analysis of a progeria mutation (c.
View Article and Find Full Text PDFTreatment of Acute Pain in Adults With Sickle Cell Disease in an Infusion Center Versus the Emergency Department : A Multicenter Prospective Cohort Study.
Ann Intern Med
September 2021
Oncology Biostatistics and Bioinformatics, Johns Hopkins University, Baltimore, Maryland (R.V.).
Background: Patients with sickle cell disease (SCD) have vaso-occlusive crises (VOCs). Infusion centers (ICs) are alternatives to emergency department (ED) care and may improve patient outcomes.
Objective: To assess whether care in ICs or EDs leads to better outcomes for the treatment of uncomplicated VOCs.
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