AI Article Synopsis
- Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) has a significant diagnostic delay, averaging 5 years, despite being recognized in Brazil for many years.
- The study analyzed patient records from a public university hospital over 18 years and found that index cases experienced longer delays compared to other family members, with older patients facing longer diagnostic waits.
- The research indicates no improvement in diagnostic timelines based on education or proximity to medical facilities, suggesting a need for better public awareness and communication regarding the disease.
Article Abstract
Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a rare disease with diagnosis offered by the Unified Health System in Brazil. Our aim was to investigate the diagnostic delay in an interval of 23 years in a public university hospital, and some potentially determining factors.
Methods: A retrospective review of the medical records of subjects identified at our institution between 1999 and 2017 was carried out, including residents of Rio Grande do Sul. The diagnostic delay was equivalent to the difference between age at onset of symptoms and age at molecular diagnosis. Calendar years, educational level, sex, distance between the household and the clinics, age and being the index case were studied as modifying factors.
Results: SCA3/MJD had a median diagnostic delay of 5 years. Index cases had delays of 6 versus 4 years (p<0.001) for subsequent family members. Delay correlated with age (rho=0.346, p<0.001), but not with age at disease onset (rho=0.005, p=0.91). No change was observed with the level of education of individuals or with the distance between household and hospital from 1999 to 2017.
Discussion: The diagnostic delay of SCA3/MJD is high in our region, where its occurrence has been reported for years. Failure to change the delay over the years suggests ineffective dissemination to the population, but a smaller lag among younger people can portray the effect of digital inclusion.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12311-022-01404-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Magnetic resonance imaging (MRI) is one of the most commonly used tools in neuroscience. However, it implies exposure to high noise levels. Exposure to noise can lead to temporary or permanent hearing loss, especially when the exposure is long and/or repeated.
View Article and Find Full Text PDFChemiluminescent Probe for Enhanced Visualization of Renal Ischemia-Reperfusion Injury via Pyroglutamate Aminopeptidase-1 Activation.
Anal Chem
January 2025
Anhui Province Key Laboratory of Major Autoimmune Diseases, Anhui Institute of Innovative Drugs, School of Pharmacy, Anhui Medical University, Hefei 230032, China.
The absence of an effective imaging tool for diagnosing renal ischemia-reperfusion injury (RIRI) severely delays its treatment, and currently, no definitive clinical interventions are available. Pyroglutamate aminopeptidase-1 (PGP-1), a potential inflammatory cytokine, has shown considerable potential as a biomarker for tracing the inflammatory process in vivo. However, its exact role in the enhanced visualization of RIRI in complex biological systems has yet to be fully established.
View Article and Find Full Text PDFPreliminary comparison of net gain in final adult height of girls with early menarche treated with or without gonadotropin-releasing hormone agonist.
Transl Pediatr
December 2024
Department of Pediatrics, Tianjin Medical University General Hospital, Tianjin, China.
Background: Early menarche is associated with both physical and psychosocial problems. Based on psychological and physical health considerations, for girls with early menarche, some parents and physicians may elect to use gonadotropin-releasing hormone agonists (GnRHa) to delay menstruation. This study aimed to explore the effects of GnRHa treatment on the final height of girls with early menarche and build the models to predict the final adult height (FAH).
View Article and Find Full Text PDFClinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.
Transl Pediatr
December 2024
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.
View Article and Find Full Text PDFExperiences of Patients and Families Living with Krabbe Disease.
J Patient Exp
January 2025
Division of Health Science, Child Healthcare and Genetic Science Laboratory, Osaka University Graduate School of Medicine, Suita, Japan.
The challenges faced by patients with Krabbe disease remain unelucidated. This study aimed to identify these challenges and facilitate the development of methods for assessing the quality of life. This qualitative descriptive study used in-person or online semistructured interviews from March to December 2022 using a qualitative content analysis approach.
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!