Unlabelled: The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests.
Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center.
Methods: A 17-year chart review of patients with suspicion of myopathy.
Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%).
Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.
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http://dx.doi.org/10.1590/0004-282X20170151 | DOI Listing |
Int J Integr Care
December 2024
Julius Global Health, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
Introduction: The SCUBY project aimed to provide knowledge on the scaling-up of an Integrated Care Package (ICP) for type 2 diabetes and hypertension across three distinct health systems (Cambodia, Slovenia, and Belgium). Here, we analyse the different elements of the country-specific scale-up roadmaps to identify similarities and differences, and share lessons learned.
Methods: Thematic analysis was used to derive crucial roadmap elements from key SCUBY documents (n = 20), including policy briefs, interim reports, research outputs, and consortium meeting notes.
Cureus
December 2024
Rheumatology, St. Luke's Meridian Medical Center, Meridian, USA.
This report describes the development of recurrent cutaneous microthrombosis in a patient with the superposition of Factor V Leiden heterozygosity on a noncriteria IgM antibody to phosphatidylserine/prothrombin complex. The patient was treated with prednisone, apixaban, and rituximab and was stable off of prednisone at her last outpatient visit 22 months after the initial event. This report illustrates the challenges of dealing with multifactor thrombophilia especially when one of those factors is a noncriteria antiphospholipid antibody and reaffirms the value of testing for noncriteria antibodies when clinical findings suggest the presence of antiphospholipid antibodies but the criteria antibodies are negative.
View Article and Find Full Text PDFFront Pediatr
December 2024
Laboratory of Translational Research, Children's Hospital of Brasília, Brasília, Brazil.
Introduction: There is consistent evidence that may be a driver gene in B-ALL and that selected cases may benefit from the use of FLT3 inhibitors. Our study was conducted to evaluate the frequency and types of FLT3 mutations in pediatric patients with B-ALL, the relative expression of this gene, and their influence on clinical evolution.
Methods: We evaluated 156 children with B-ALL treated between July 2018 and September 2023.
Oropouche virus is an arbovirus endemic to the Americas. Periodic outbreaks have occurred since its description in 1955. In late 2023, an outbreak occurred in Peru, centered in and around Iquitos in the Eastern Peruvian Amazon.
View Article and Find Full Text PDF: The safety of dietary interventions is often unmonitored. Wearable technology can track elevations in resting heart rate (RHR), a marker of physiologic stress, which may provide safety information that is incremental to self-reported data. : A single subject was placed on an isocaloric diet for four weeks.
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