The journal Revista Portuguesa de Pneumologia has published an article about Pompe disease. Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. The full-text article you can find here.
The journal Korean Journal of Neurotrauma has published an article about syringomyelia. Syringomyelia associated with tuberculous meningitis is an extremely rare condition. Only a few studies have reported clinical experience with syringomyelia as a late complication of tuberculous meningitis. The full-text article you can find here.
The journal JMIR research protocols has published an article about clinical guideline. Clinical guidelines provide systematically developed recommendations for deciding on appropriate health care options for specific conditions and clinical circumstances. Up until recently, patients and caregivers have rarely been included in the process of developing care guidelines. The full-text article you can read here.
The journal American journal of hematology has published an article about acquired hemophilia A (AHA). Acquired hemophilia A (AHA) is a rare disease resulting from autoantibodies (inhibitors) against endogenous factor VIII (FVIII) that leads to bleeding, which is often spontaneous and severe. AHA tends to occur in elderly patients with comorbidities and is associated with high mortality risk from underlying comorbidities, bleeding, or treatment complications. The full-text article you can find here
The journal Orphanet journal of Rare Diseases has published an article about morquio A syndrome. Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A patients have used the 6-min walk test (6MWT) to assess functionality and endurance and to evaluate disease progression or efficacy of treatment. The full-text article you can read here.
The journal Archives in Disease in Childhood has published an article about langerhans cell histiocytosis (LCH). LCH is a rare disease with diverse clinical courses. Despite improvement in survival outcomes in the recent decades, sequelae of the disease remain a concern. The full-text article you can find here.
The journal Handbook of Clinical Neurology has published an article about patient support groups in the management of Wilson disease. Patient support groups serve an important function for those affected by a disease but especially for people with a rare disease. Because of the complexity of Wilson disease there are some unique and difficult problems faced by groups that advocate for these patients. The full-text article you find тук.
New pharmacovigilance legislation was adopted in the EU in 2010 and became operational in July 2012. The legislation placed an obligation on all national competent authorities (NCAs) and marketing authorisation holders (MAHs) to record and report cases of suspected adverse drug reactions (ADRs) received from patients. This descriptive study aims to provide insight into patient reporting for the totality of the EU by querying the EudraVigilance (EV) database for the period of 3 years before the new pharmacovigilance legislation became operational and the 3 years after as well as comparing patient reports with those from healthcare professionals (HCPs) where feasible. The full-text article you can find here.
The journal “Neuromuscular Disorders: NMD” has published an article about late-onset Pompe disease. Exercise intolerance is one of the clinical hallmarks of late-onset Pompe disease (LOPD). In the article are reviewed the acute effects of ERT on the physiological variables associated with exercise tolerance in patients chronically ERT treated. The full-text article you can find here.
The journal Advances in Therapy has published an article about homozygous familial hypercholesterolaemia. Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. The full-text article you can find here.