One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient. As a team, we have worked for the past eight years to discover a drug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA). Here, we describe the journey that has led to a promising drug based on ...

Anaesthetic management of an infant with spinal muscular atrophy [Type 1] for fundoplication and feeding gastrostomy - IJCA- Print ISSN No: 2394-4781 Online No:- 2394-4994 Article DOI 10.18231/j.ijca.2023.044, Indian Journal Clinical Anaesthesia-Indian J Clin Anaesth

The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of ...


 CADTH reimbursement reviews are comprehensive assessments of the clinical effectiveness and cost-effectiveness, as well patient clinician perspectives, a drug or class.
 The inform non-binding recommendations that help guide decisions Canada's federal, provincial, territorial governments, with exception Quebec.
 This review assesses risdiplam (Evrysdi), powder for oral solution...

OBJECTIVES Molecular-genetic analysis is a determining step in setting the diagnosis of spinal and bulbar muscular atrophy (SBMA). We present the first nation-wide study and experience with this disease and its diagnosis in Slovakia. The study is enriched by comparison of genetic findings from Slovak patients to patients from other countries. METHODS Molecular-genetic analysis was performed f...