Wilson's disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Mutations in the ATP7B gene on chromosome 13 cause Wilson's disease. If left untreated it will cause liver failure, neurological damage, and will be life threatening. It is considered a rare disease afflicting approximately 1 in 30,000 persons worldwide, although this rate is similar in the different countries some places show higher incidence rates. Since Costa Rica reports the highest number of cases per population, essential public health initiatives that promote wellbeing, prevent disease complications, and prolong life among the affected population have been carried out during the last decades. The most recent lead in this matter is the conformation of the Costa Rica's National Alliance for Wilson's disease whose main objective is to provide practical, operational, timely and relevant guidance to patients, families, and healthcare professionals in the region for early diagnosis and treatment. The development and implementation of the National Alliance for Wilson's disease activities is crucial because it will reaffirm that early intervention and appropriate treatment, will reduce if not eliminate the burden of Wilson's disease.
Here, a study of NMOSD in Central America and the Caribbean with a multinational collaborative, multicentric and descriptive approach involving 25 institutions from 9 countries is presented. Demographics, clinical manifestations, expanded disability scale status (EDSS), brain and spinal cord MRI, serological anti-AQP4-IgG and anti-MOG-IgG antibodies, and cerebrospinal fluid (CSF) oligoclonal bands were included. A central serological repository utilized the cell-based assay. The specimens outside of this network employed diverse methodologies. Data were collected at the Gorgas Commemorative Institute of Health Studies (ICGES), Panama, and included 186 subjects, of which 84% were females (sex ratio of 5.6:1). Mestizos constituted 72% of the study group. The median age was 42.5 years (IQR: 32.0–52.0). Associated autoimmune diseases (8.1%) were myasthenia gravis, Sjögren’s syndrome and systemic lupus erythematosus. The most common manifestation was optic neuritis-transverse myelitis (42.5%). A relapsing course was described in 72.3% of cases. EDSS scores of 0–3.5 were reported in 57.2% of cases and higher than 7.0 in 14.5%. Positive anti-AQP4-IgG antibody occurred in 59.8% and anti-MOG-IgG antibody in 11.5% of individuals. Antibody testing was lacking for 13.4% of patients. The estimated crude prevalence of NMOSD from Panama and the Dominican Republic was 1.62/100,000 (incidence of 0.08–0.41) and 0.73/100,000 (incidence 0.02–0.14), respectively. This multinational study contributes additional insights and data on the understanding of NMOSD in this Latin American region.
Therapeutic decisions for multiple sclerosis have become more complex in the Central American and Caribbean region (CAC), with new treatments appearing every year but with well-known limitations in terms of access and application. Concomitantly, the advent of the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic, with an increasing number of cases in the region, has increased the need for a consensus on therapeutic decisions to be made for people with multiple sclerosis. Under these circumstances, a reference framework is needed to gather current information to assist neurologists in making therapeutic decisions. An evidence-based consensus on the use of disease-modifying therapies for multiple sclerosis was proposed and accomplished by the Central American and Caribbean Multiple Sclerosis Forum (FOCEM), including recommendations for treatment during the pandemic. Using the consensus panel development methodology, after a bibliographic review of the best quality and actualized information, a final report was written; this includes statements that reached more than 70% consensus among the panel of experts. The recommendations encompass indications for drugs available for multiple sclerosis, definitions of therapeutic failure, patient follow-up, factors of poor prognosis, discontinuation of treatment, treatment during pregnancy and lactation and specific recommendations to apply during the SARS-CoV-2 pandemic.
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