Models of rare diseases

Publication date: Available online 14 February 2020Source: Drug Discovery Today: Disease ModelsAuthor(s): Daniela Braconi, Annalisa Santucci
Source: Drug Discovery Today: Disease Models - Category: Drugs & Pharmacology Source Type: research

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By GRACE CORDOVANO PhD, BCPA To be honest, the United States blew it on the mask front. From a public health, caregiver and patient safety, as well as community transmission standpoint, we are at least 3 months late to game. Anytime a brand new virus that humanity does not have any immunity to makes an appearance, is highly contagious, starts rapidly infecting people as well as the doctors and nurses caring for them, hospitalizing, and killing them in concerning numbers across the globe, we should enable every proactive safety measure at our disposal. The first confirmed case of COVID-19 in the US was on January 20,...
Source: The Health Care Blog - Category: Consumer Health News Authors: Tags: COVID-19 Health Policy coronavirus Grace Cordovano masks Pandemic Source Type: blogs
Conclusions For the first time in an analytical study, asbestos exposure was associated with pericardial and tunica vaginalis testis mesothelioma risk, supporting the causal role of asbestos for all anatomical sites. The extreme rarity of the diseases, the poor survival and the prognostic role of age have been confirmed based on population and nationwide mesothelioma registry data.byMarinaccio A, Consonni D, Mensi C, Mirabelli D, Migliore E, Magnani C, Di Marzio D, Gennaro V, Mazzoleni G, Girardi P, Negro C, Romanelli A, Chellini E, Grappasonni I, Madeo G, ­Romeo E, Ascoli V, Carrozza F, Angelillo IF, Cavone D, ­Tu...
Source: Scandinavian Journal of Work, Environment and Health - Category: Occupational Health Tags: Original article Source Type: research
Oral migalastat has recently been approved for the treatment of Anderson-Fabry disease (FD) in patients aged ≥16 years with amenable mutations on the basis of two phase III trials, FACETS and ATTRACT. However,...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Position statement Source Type: research
ConclusionPaediatric rare genetic conditions appear to be associated with substantial parental health spillovers. This highlights the importance of including health effects on family members and caregivers into economic evaluation of genomic technologies and personalised medicine. Overlooking spillover effects may undervalue the benefits of diagnosis and management in this context. This study also expands the knowledge of family spillover to the rare disease spectrum.
Source: Quality of Life Research - Category: Health Management Source Type: research
Blue rubber bleb nevus syndrome (BRBNS), also called Bean's syndrome, is a rare disease associated with multiple venous malformations in the skin and gastrointestinal (GI) tract. Dermatological lesions, which are the first clinically visible manifestations, appear as skin-colored compressible protuberances or as dark-blue venous nodules, rubbery in consistency. Central nervous system (CNS) manifestations are rare, variable, non-specific, and tend to occur late in the disease, mainly reported as seizures and focal neurological deficits secondary to compression. Most cases occur sporadically, however, an autosomal dominant i...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Agenesis of the dorsal pancreas (ADP) is a very rare disease with no specific symptoms, and the pathogenesis is not clear. Some patients will be accompanied by other diseases, such as pancreatic tumor or pancr...
Source: BMC Gastroenterology - Category: Gastroenterology Authors: Tags: Case report Source Type: research
Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endoso...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are ver...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the aci...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Source: Patient Preference and Adherence - Category: International Medicine & Public Health Tags: Patient Preference and Adherence Source Type: research
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