Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902165 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFTactics for Institutional Advocacy to Increase Research Capacity in a Family Medicine Department.
J Am Board Fam Med
December 2024
From the Department of Family and Community Medicine, University of Illinois Chicago, Chicago, IL (MJ); Department of Family Medicine, University of California at Los Angeles, Los Angeles, CA (GM).
Family medicine as a specialty has steadily increased its research capacity. Specific approaches are needed to attain the following: 1) Advocate for increased funding for Departments of Family Medicine from institutional leadership. 2) Identify and promote promising practices for chairs to support and fund research participation within their departments and institutions.
View Article and Find Full Text PDFPutting Trainees at the Center of the Family Medicine Research Workforce of Tomorrow.
J Am Board Fam Med
December 2024
From the Resident physician, OhioHealth Riverside Methodist Hospital Family Medicine Residency Program, Columbus, OH (BR), Postdoctoral Fellow, Women's College Hospital Institute for Health System Solutions and Virtual Care, Toronto, ON, Canada (MG), Tom and Anne Smith MD/PhD student, University of Missouri, Columbia, MO (TB), Senior Research Specialist, Department of Family and Community Medicine, University of Missouri, Columbia. MO (TB), Strategic Advisor, Canadian Medical Association, University of Ottawa, Ottawa, Ontario, Canada (AC), Resident physician, University of Arizona College of Medicine-Phoenix Family Medicine Residency Program, Phoenix, AZ (IL), Consultant Family Physician, Royal Victoria Medical Centre, Abuja, Nigeria (MO).
The Family Medicine Research Summit culminated in a strategic action plan to enhance research in family medicine and expand the primary care research workforce. The strategic plan focuses on infrastructure, mentorship, and funding objectives needed for robust family medicine research. Trainees play a central role in the success of the strategic plan.
View Article and Find Full Text PDFCARE-SD: classifier-based analysis for recognizing provider stigmatizing and doubt marker labels in electronic health records: model development and validation.
J Am Med Inform Assoc
December 2024
Department of Biomedical Informatics, School of Medicine, Emory University, Atlanta, GA 30322, United States.
Objective: To detect and classify features of stigmatizing and biased language in intensive care electronic health records (EHRs) using natural language processing techniques.
Materials And Methods: We first created a lexicon and regular expression lists from literature-driven stem words for linguistic features of stigmatizing patient labels, doubt markers, and scare quotes within EHRs. The lexicon was further extended using Word2Vec and GPT 3.
Responsible research in health disparities using the Adolescent Brain Cognitive Development (ABCD) study.
Dev Cogn Neurosci
December 2024
National Institute on Drug Abuse (GD, DA, TMM), USA. Electronic address:
Purpose: The Adolescent Brain Cognitive Development (ABCD) Study is the largest longitudinal study on brain development and adolescent health in the United States. The study includes a sociodemographically diverse cohort of nearly 12,000 youth born 2005-2009, with an open science model of making data rapidly available to the scientific community. The ABCD Study® data has been used in over 1100 peer-reviewed publications since its first data release in 2018.
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!