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.
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http://dx.doi.org/10.1016/j.accpm.2023.101284 | DOI Listing |
JAMA Pediatr
January 2025
Department of Medicine, University of Florida, Gainesville.
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.
Neurogenetics
January 2025
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
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 PDFRheumatol 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.
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.
Int J Audiol
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
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.
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