Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Desmopressin (DDAVP) can be used to prevent or stop bleeding. However, large inter-individual variability is observed in DDAVP response and determinants are largely unknown. In this systematic review and meta-analysis we aim to identify the response to DDAVP, and the factors that determine DDAVP response in patients.
View Article and Find Full Text PDFSome Challenges of Diffused Interfaces in Implicit-Solvent Models.
J Comput Chem
January 2025
Department of Mechanical Engineering, Universidad Técnica Federico Santa María, Valparaíso, Chile.
The standard Poisson-Boltzmann (PB) model for molecular electrostatics assumes a sharp variation of the permittivity and salt concentration along the solute-solvent interface. The discontinuous field parameters are not only difficult numerically, but also are not a realistic physical picture, as it forces the dielectric constant and ionic strength of bulk in the near-solute region. An alternative to alleviate some of these issues is to represent the molecular surface as a diffuse interface, however, this also presents challenges.
View Article and Find Full Text PDFCase Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
Front Genet
January 2025
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Background: Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
Methods: We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA).
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Sci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFThe Value of Medical Nutrition Therapy and Diabetes Self-Management Education and Support in Diabetes Care and Education: A Call to Action to Increase Referrals and Recognize Insurance Coverage Variation.
Curr Diab Rep
January 2025
Sections of Adult and Pediatric Endocrinology, University of Chicago Medicine, Outpatient CDCES, Chicago, USA.
Purpose Of Review: Evidence over the past few decades have proven the benefits and cost savings of diabetes self-management education and support (DSMES) and medical nutrition therapy (MNT). Yet, the benefits continue to be underutilized. Little evidence is available to definitively assess insurance coverage for both services.
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!