Up to 8,000 rare diseases are currently described in the scientific literature. The presence of a rare disease constitutes an additional challenge for the practitioner given its implications on the management of anesthesia. Moreover, it is not possible for an anesthesiologist to know them all especially as the sources of information are scattered. This narrative review aims at proposing pre-anesthetic evaluation clear tools to summarize the individual aspects of a known or suspected rare disease in a patient and to define an adapted anesthetic strategy. It also describes a decision-making process, called « the rare disease reflex », to guide the practitioner to quickly initiate diagnostic investigations in the presence of unusual perioperative clinical signs suggestive of an undiagnosed rare disease.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.accpm.2023.101284DOI Listing

Publication Analysis

Top Keywords

rare disease
20
rare
6
disease
5
planning anesthesia
4
anesthesia child
4
child rare
4
disease tools
4
tools 8000
4
8000 rare
4
rare diseases
4

Similar Publications

Importance: Cell and gene therapies are revolutionizing the treatment landscape for children and adults with rare diseases and can be life-changing for patients and their families. Successful implementation of these new therapies into clinical practice depends on their accessibility and affordability, particularly through publicly funded Medicaid agencies, which cover many children and adults with rare diseases.

Objective: To provide a framework to broadly assess cell and gene therapies, evaluate payment options, and ensure equitable access through the lens of publicly funded Medicaid programs.

View Article and Find Full Text PDF

Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.

View Article and Find Full Text PDF

Temporomandibular joint septic arthritis: a report of thirteen cases and a systematic review of the literature.

Rheumatol Int

January 2025

Department of Oral and Maxillofacial Surgery, U1008 - Advanced Drug Delivery Systems, Univ. Lille, CHU Lille, INSERM, Lille, F-59000, France.

Introduction: Temporomandibular joint (TMJ) septic arthritis is a rare frequently misdiagnosed condition with non-specific symptoms. We present our experience of thirteen cases of TMJ septic arthritis and perform a systematic review of the literature to collate the multiple characteristics of this condition.

Material And Method: A total of 133 cases of TMJ septic arthritis in humans across 62 studies were analyzed by searching PubMed, Cochrane Library, DOAJ and ClinicalTrials.

View Article and Find Full Text PDF

Genetics of Prader-Willi and Angelman syndromes: 2024 update.

Curr Opin Psychiatry

December 2024

Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.

Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.

Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.

View Article and Find Full Text PDF

Objective: This study investigates the relationship between Meniere's disease (MD) duration and both hearing thresholds and vestibular dysfunction.

Design: Retrospective cohort study. First, the relationships between MD duration and pure-tone audiometry thresholds for each frequency, the canal paresis (CP) ratio, and the vestibulo-ocular reflex (VOR) gain were analysed.

View Article and Find Full Text PDF

Want 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!