The journal Turkish Journal of Anaesthesiology and Reanimation has published an article regarding the еpidermolysis bullosa. Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. The full-text article you can find here.
The journal Danish Medical Journal has published a review regarding the refractory coeliac disease. Refractory coeliac disease (RCD) is a rare and severe malabsorptive disease. A systematic literature search was performed in 18 databases, and 122 records were identified. Among coeliac disease patients, the cumulative incidence of RCD is 1-4% per ten-year period and the prevalence is 0.31-0.38%. In the general population, the prevalence of RCD is 0.002%. The full-text rewiel you can find here.
The journal Pediatric Clinics of North America has published an article regarding to the genomic sequencing which is the diagnostic test of choice for families with undiagnosed or rare diseases seeking an explanation for their child’s complex medical concerns. The desire to find answers can easily bias interpretation of sequencing results, and thus the counseling process is designed to facilitate informed decision making and set realistic expectations for possible outcomes. The full-text article you can find here.
The journal Pediatric Clinics of North America has published an article about differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features suggestive of inherited neuropathies. GBS is typically characterized by the acute onset of ascending flaccid paralysis, areflexia, and dysesthesia secondary to peripheral nerve fiber demyelination. The full-text article you can find here.
The journal Value Health Regional Issues has published an article which aims to present the characteristics of the scorecard health technology assessment (HTA) implemented since 2014 and to show the results of this HTA process by the end of 2015. The health care context and the Romanian HTA legislation were studied while considering the reasons behind HTA introduction, the key stakeholders, and the HTA process as a whole. A critical appraisal was done covering public HTA reports and the decisions made by the Ministry of Health. The full-text article you can find here.
Although neurological morbidity has been consistently described in the congenital heart disease (CHD) population, no studies to date have examined the long-term risk of epilepsy in subjects with CHD compared with the general population. Previous studies, which point toward a heightened risk of epilepsy, include a single-center case series without the benefit of a control population and a subsequent population-based case-control study. The full-text article you can find here.
Huntington’s disease (HD) is a progressive neurodegenerative condition characterized by chorea, dystonia, behavioral disturbances and cognitive decline. The aim of the article is to assess temporal and spatial changes on mortality attributable to HD over 30 years in Spain. The full-text article you can find here.
The journal Health policy has published a study regarding the impact of patient outcomes and cost aspects on reimbursement recommendations in Poland in 2012-2014. They have analysed all recommendations for the period of 2012-2014 in Poland, three years following the launch of the new Reimbursement Act of Medicines, Foodstuffs Intended for Particular Nutritional Uses and Medical Devices. For each recommendation they have collected data on efficacy, safety, cost of therapy, cost-effectiveness, quality of evidence, orphan drug status and others. Logistic regression was used to identify factors that increase the odds of a positive reimbursement recommendation. Were analysed 221 recommendations for drugs, of which 78% were positive. The full-text study you can find here.
Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. The full-text article you can find here.
Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that collect data from patients can increase knowledge of the disease’s natural history, evaluate clinical therapies, monitor drug safety, and measure quality of care. The active participation of patients is expected to optimise rare-disease management and improve patient outcomes. The full-text article you can find here.