Rare diseases: not so out of the ordinary

Publication date: March 2020Source: The Lancet Haematology, Volume 7, Issue 3Author(s): The Lancet Haematology
Source: The Lancet Haematology - Category: Hematology Source Type: research

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CONCLUSIONS: First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials. PMID: 32242535 [PubMed - in process]
Source: Annali dell Istituto Superiore di Sanita - Category: General Medicine Tags: Ann Ist Super Sanita Source Type: research
Resumo A doen ça de Fabry é definida como uma doença rara de depósito lisossomal ligada ao cromossomo X que apresenta sintomas multissistêmicos, incluindo comprometimento vascular com eventos trombóticos. Paciente do sexo feminino, 57 anos, com diagnóstico de doença de Fabry há 11 anos, apresentava hiper idrose, hipoacusia e angioqueratoma nas mãos. Na história patológica pregressa, relatou episódio de acidente vascular encefálico isquêmico prévio aos 40 anos de idade e trombose arterial crônica agudizada em ...
Source: Jornal Vascular Brasileiro - Category: Surgery Source Type: research
AbstractPurpose of ReviewIdiopathic pulmonary hemosiderosis (IPH) is one of the rarest and least understood causes of pulmonary hemorrhage in children. Illustrated by a complex case presentation, we discuss the clinical manifestations, diagnosis, pathology, proposed etiologies, and treatment of this rare disease. We also compare IPH with anti-glomerular basement membrane antibody syndrome (anti-GBM disease), another rare causes of pediatric pulmonary hemorrhage.Recent FindingsRecent retrospective studies regarding IPH along with advanced immunotherapy have led to an improved understanding of how to best treat this conditio...
Source: Current Allergy and Asthma Reports - Category: Allergy & Immunology Source Type: research
This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (T...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This study is the first international, investigator-initiated, prospective and controlled investigation of a pharmacological treatment in chILD. The block design was selected as it has the advantage of accommodating patients who are initiating or withdrawing from HCQ therapy, thus allowing the participation of those who were previously started on off-label HCQ. The cross-over design and selected outcome parameters enables us to include appropriate numbers of patients of all age groups from neonates to adults suffering from these rare diseases.Trial registrationThis is an exploratory, Phase 2a, randomized, double-blind, pla...
Source: Trials - Category: Research Source Type: clinical trials
ConclusionsSystematic pelvic and paraaortic LND in patients with LGSOC improved neither overall nor PFS. A prospective trial would be necessary to validate these results but would be difficult to conduct due to the rarity of this disease.
Source: Annals of Surgical Oncology - Category: Cancer & Oncology Source Type: research
BRIDGEWATER, N.J., April 2, 2020 -- (Healthcare Sales &Marketing Network) -- Insmed Incorporated (Nasdaq:INSM), a global biopharmaceutical company on a mission to transform the lives of patients with serious and rare diseases, today announced the appoint... Biopharmaceuticals, Drug Delivery, Personnel Insmed, ARIKAYCE, amikacin
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
Publication date: Available online 1 April 2020Source: International Journal of Surgery Case ReportsAuthor(s): Gabriel Molina, Carolina Mesías, Juan Calispa, Kevin Arroyo, Katherine Jaramillo, Ligia Lluglla, Bernardo Gutierrez, Patricio Gálvez
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
CONCLUSION: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard. PMID: 32228824 [PubMed - in process]
Source: Central European Journal of Public Health - Category: International Medicine & Public Health Tags: Cent Eur J Public Health Source Type: research
Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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