Pooling resources to make better diagnoses of rare diseases

By pooling patient data and applying state-of-the art genetic methods, EU-funded research is improving the diagnosis of rare diseases that affect the lives of tens of millions of EU citizens.
Source: EUROPA - Research Information Centre - Category: Research Source Type: news

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ConclusionA national dedicated call center for management of severe hereditary angioedema attacks is associated with a decrease in hospital admissions and may be cost-effective if facilities and staff are available to deliver the intervention alongside existing services.
Source: Annals of Emergency Medicine - Category: Emergency Medicine Source Type: research
Maria Kamusheva, Manoela Manova, Alexandra T. Savova, Guenka I. Petrova, Konstantin Mitov, Andr ás Harsányi, Zoltán Kaló, Kristóf Márky, Pawel Kawalec, Bistra Angelovska, Dragana Lakić, Tomas Tesar, Pero Draganic, Mary Geitona, Magdalini Hatzikou, Marian S. Paveliu, Agnes Männik
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
ConclusionsThese data strongly implicateSOX17 as a new risk gene contributing to PAH-CHD as well as idiopathic/familial PAH. Replication in other PAH cohorts and further characterization of the clinical phenotype will be important to confirm the precise role ofSOX17 and better estimate the contribution of genes regulated by SOX17.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
Conclusions: To our knowledge, this is the largest case series of patients with PAP ever conducted in Brazil. The survival rate was similar to that found at other center s. For symptomatic, hypoxemic patients, the treatment of choice is still WLL. Precautions should be taken in order to avoid complications, especially opportunistic infections.RESUMO Objetivo: A proteinose alveolar pulmonar (PAP) é uma doença rara, caracterizada pelo acúmulo alveolar de substância surfactante, composta por proteínas e lipídios. É causada por um déficit de atividade macrofágica, c...
Source: Jornal Brasileiro de Pneumologia - Category: Respiratory Medicine Source Type: research
Conclusion: Tissue biopsy is needed to exclude other differential diagnoses, whereas a multidisciplinary approach is needed to manage PTL.Case Rep Oncol 2018;11:505 –510
Source: Case Reports in Oncology - Category: Cancer & Oncology Source Type: research
Scleroderma is a rare disease that has two main forms: localized scleroderma (LS) and systemic sclerosis (SSc). Both are chronic diseases, can present in different patterns (subtypes), and are associated with extracutaneous involvement in pediatric patients. Morbidity and mortality is much worse for juvenile SSc with patients at risk for life-threatening lung, heart, and other visceral organ fibrosis and vasculopathy. Mortality is extremely rare in juvenile LS, but morbidity is common, with patients at risk for severe disfigurement and functional impairment. Scleroderma treatment is directed towards controlling inflammatio...
Source: Pediatric Clinics of North America - Category: Pediatrics Authors: Source Type: research
AbstractAlthough there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The aims of this two-day Delphi-based workshop were to (i) define the protocol for an international, multi-centre natural history study in children with mitochondrial myopathy and (ii) to select appropriate outcome measures for a validation study in child...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This article focuses on biobanks of this kind, and the special obligations that publicly funded universities have to ensure the sustainability of biobanks with continued scientific value. We argue that universities should adopt policies to deal with the various, diverse issues which may arise during the lifecycle of a biobank. The policies should be flexible, accommodate the freedoms of individual researchers, and reflect the multifaceted nature of biobanks. Yet they should be specific enough to provide guidance and robust enough to safeguard legal norms and ethical values. The article sets out concrete recommendations whi...
Source: Biopreservation and Biobanking - Category: Biomedical Science Tags: Biopreserv Biobank Source Type: research
DiscussionTwelve cases of mesenchymal tumor of the ethmoid sinus associated with oncogenic osteomalacia have been reported to date. FGF-23 assay and whole-body MRI with STIR sequence are useful for the diagnosis. A very favorable outcome is observed after surgical treatment in the majority of cases.
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
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