Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/cge.12173 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Business Venturing in Regulated Markets-Taxonomy and Archetypes of Digital Health Business Models in the European Union: Mixed Methods Descriptive and Exploratory Study.
J Med Internet Res
January 2025
Institute for Entrepreneurship, Technology Management and Innovation (EnTechnon), Karlsruhe Institute of Technology (KIT), Karlsruhe, Germany.
Background: Digital health technology (DHT) has the potential to revolutionize the health care industry by reducing costs and improving the quality of care in a sector that faces significant challenges. However, the health care industry is complex, involving numerous stakeholders, and subject to extensive regulation. Within the European Union, medical device regulations impose stringent requirements on various ventures.
View Article and Find Full Text PDFSacral Neuromodulation Reprogramming Rates: Understanding Office-Based Requirement.
Urogynecology (Phila)
December 2024
Importance: Sacral neuromodulation (SNM) is a procedure with the advantage of reprogramming for discomfort or inadequate symptom control.
Objectives: The aims of this study were to investigate the rates of office-based SNM programming in a large multisite cohort and to examine differences based on implantation indication.
Study Design: The TriNetX database was utilized for retrospective cohort comparison using International Classification of Diseases, Tenth Revision, and Current Procedural Terminology (CPT) codes.
A Demographic Description of Children and Adolescents With Concomitant Autism and Anxiety Along With a Comparison of Receipt of Psychological Services.
J Dev Behav Pediatr
October 2024
College of Nursing, University of Kentucky, Lexington, KY.
Objective: (1) Evaluate differences in demographic distributions between those with autism alone and those with autism concomitant with anxiety and (2) assess demographic factors associated with receipt of psychological therapy in patients with autism.
Methods: Using deidentified health care claims data, we extracted all encounters among children with the International Classification of Diseases-10-CM for Autism Spectrum Disorder (F84) and flagged those with concomitant anxiety (F41.9).
Kinetic Oscillation Stimulation for the Preventive Treatment of Chronic Migraine: A Randomized, Double-Blind, Sham-Controlled Trial.
Neurology
February 2025
Department of Systems Neuroscience, University Medical Center Hamburg-Eppendorf, Germany.
Background And Objectives: The Chordate System administers kinetic oscillation stimulation (K.O.S) into the nasal cavity thereby potentially modulating the activity of trigemino-autonomic reflex.
View Article and Find Full Text PDFThe potential role of machine learning and deep learning in differential diagnosis of Alzheimer's disease and FTD using imaging biomarkers: A review.
Neuroradiol J
January 2025
Department of Medical Physics, Faculty of Medicine, Mashhad University of Medical Sciences, Iran.
Introduction: The prevalence of neurodegenerative diseases has significantly increased, necessitating a deeper understanding of their symptoms, diagnostic processes, and prevention strategies. Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two prominent neurodegenerative conditions that present diagnostic challenges due to overlapping symptoms. To address these challenges, experts utilize a range of imaging techniques, including magnetic resonance imaging (MRI), diffusion tensor imaging (DTI), functional MRI (fMRI), positron emission tomography (PET), and single-photon emission computed tomography (SPECT).
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!