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Rare disease awareness: European-wide information campaigns highlight Rare Diseases every February. And February 15th has been designated the first International Angelman Syndrome Day.
Source: The Irish Times - Health - Category: Consumer Health News Source Type: news

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CAMBRIDGE, Mass., Oct. 21, 2019 -- (Healthcare Sales &Marketing Network) -- SmartPharm Therapeutics, a preclinical-stage pharmaceutical company focused on developing next-generation, non-viral gene therapies for the treatment of rare diseases, today anno... Biopharmaceuticals, Personnel SmartPharm Therapeutics, gene therapy
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
In this study, we present our contemporary experience in managing this rare condition from two major tertiary centers. This is a retrospective observational cohort study.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
This report aimed to discuss the reason for IVCT in a case of pregnancy-induced hypertension with decreased antithrombin III and protein S and the anticoagulation strategy.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Conclusion: Long-term OS and RFS after the surgical resection of primary chest wall sarcoma were clinically acceptable. PMID: 31624714 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research
Authors: Schroader B, Kong SX, Anderson S, Williamson T, Sireci A, Shields K Abstract INTRODUCTION: The development of precision medicine and targeted therapies have revolutionized cancer treatment. Historically, treatment was chosen based on the tumor-histology, but can now be tailored to patient-specific actionable biomarkers. Investigations have shown up to 40% of cancer patients who undergo molecular testing have an actionable biomarker with a drug currently available, and that patients benefit from these drugs. In 2018, larotrectinib became the first drug developed and approved exclusively as a tumor-agnostic ...
Source: Expert Review of Anticancer Therapy - Category: Cancer & Oncology Tags: Expert Rev Anticancer Ther Source Type: research
In the past few blogs, I've been discussing the recent publication of my book,Evolution ’s Clinical Guidebook: Translating Ancient Genes Into Precision Medicine. The premise of this book is that modern medicine is based on an understanding of evolutionary processes. Evolution shows us the relationships between the subdisciplines of medicine that benefit directly from Precision Medicine (i.e., pathology, microbiology, clinical genetics, pharmacology, and bioinformatics). In Evolution's Clinical Guidebook, all of these diverse fields are brought together, under the subject of evolution. To illustrate, I have listed bel...
Source: Specified Life - Category: Information Technology Tags: bioinformatics clinical genetics evo-devo evolution precision medicine rare disease Source Type: blogs
Discussion Silver-Russell syndrome (SRS) is a rare genetic syndrome first characterized by Silver in 1953 and Russell in 1954. Patients with SRS have characteristic growth patterns and clinical findings, although within an individual patient there are phenotypical differences. Patients are born small-for-gestational age (SGA) but have a relative macrocephaly. There is postnatal growth failure and difficulty feeding, with a very low body mass index. Body asymmetry (e.g. hemihypertrophy) and facial features (i.e. protruding forehead, triangular facies, micrognathia, dental anomalies, downturned mouth corners, and ear anomali...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Minocycline is an old tetracycline antibiotic that has shown antiinflammatory and antiapoptotic properties in different neurological disease mouse models. Previous single arm study in humans demonstrated benef...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
The objective was to describe the main causes of hospitalization in people with Angelman syndrome (AS). MethodPopulation‐based cross‐sectional study in the Community of Madrid (CM), Spain. The information source for AS cases was the information system for rare diseases in the CM. Variables related to hospitalization, for the period 2006–2014, were the following: number of episodes, outcome, main cause, length of stay and type of admission. Main causes of hospitalization were described by age group and sex. ResultsThe most frequent causes of hospitalization were the following: oral–dental care (28.9%), seizu...
Source: Journal of Applied Research in Intellectual Disabilities - Category: Disability Authors: Tags: BRIEF REPORT Source Type: research
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