Rare Disease Put This Young Mom in a Coma for 7 Months

This is a rare disease in which the immune system attacks the brain and disrupts normal brain signaling. It first affected her ability to think clearly, but soon she was suffering from relentless seizures.
Source: WebMD Health - Category: Consumer Health News Source Type: news

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Notice NOT-TR-20-010 from the NIH Guide for Grants and Contracts
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
Tom Salisbury didn’t think much of his chest cold when he got it in January 2014. He would later learn it was the first symptom of a rare disease that could have killed him.
Source: CBC | Health - Category: Consumer Health News Tags: News/Canada/Hamilton Source Type: news
New sequencing technologies are revolutionizing disease gene discovery and testing with tremendous benefits for the diagnosis of rare diseases. However, the more we sequence, the more we discover, and the challenge is to assess the numerous variants in the clinical and genetic context carefully to establish the correct diagnosis. Clinicians and geneticists must work together for this because failure to do so can result in incorrect advice with potentially serious consequences.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Commentary Source Type: research
(IDIBELL-Bellvitge Biomedical Research Institute) he IDIBELL Neurometabolic Diseases group, with international collaboration, has identified a model of chromosome X-linked adrenoleukodystrophy (x-ALD) in the earthworm C. elegans, this is a rare disorder of the nervous system with no treatment available.
Source: EurekAlert! - Biology - Category: Biology Source Type: news
AbstractRandomized controlled clinical trials (RCTs) are at the heart of “evidence-based” medicine. However, in surgical practice, RCTs remain uncommon. Conducting well-designed RCTs for surgical procedures is often challenged by inadequate recruitment accrual, blinding, or standardization of the surgical procedure, as well as lack of funding and evolution of the tre atment strategy during the many years over which such trials are conducted. In addition, most clinical trials are performed in academic high-volume centers in highly selected patients, which may not necessarily reflect a “real-world” pr...
Source: Journal of Gastrointestinal Surgery - Category: Surgery Source Type: research
Taking New Steps to Meet the Challenges of Rare Diseases — FDA Marks the 11th Rare Disease Day
Source: FDA Center for Drug Evaluation and Research - What's New - Category: Drugs & Pharmacology Authors: Source Type: news
Less than one year after Ipsen SA made its largest-ever acquisition, the company has written down most of the deal ’s value as a loss.  Ipsen spent $1 billion last year to acquire Canadian startup Clementia Pharmaceuticals Inc. and its leading rare disease drug candidate. But the drug giant, which is based in France and has its U.S. headquarters in Cambridge, recorded a $725 million impairment loss on the de al in its year-end financial report, resulting in a $54 million net loss for Ipsen.  The…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Conclusion: This is the largest series of patients with ACC treated with high dose adjuvant proton therapy. Proton therapy is a safe and efficient treatment and should be considered as an adjuvant irradiation modality to privilege, for patients with lacrimal ACC after conservative or radical eyeball surgery. Dose delivered to temporal lobe should be limited to avoid brain radionecrosis.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusion: Hearing impairment and facial palsy were representative symptoms of ELST. All ELSTs showed 'salt and pepper' signal in MRI T1-weighted images, and smaller tumors could have blood supply from AICA in the radiologic study. Complete surgical resection with optional stereotactic radiosurgery should be considered in ELST.HighlightsHearing impairment and facial weakness are remarkable symptoms of ELST compared to other diseases that invade the endolymphatic sac.All ELSTs showed 'salt and pepper' signal in MRI T1-weighted images.ELST less than 3 cm in diameter could have blood supply from AICA.A complete surgic...
Source: Acta Oto-Laryngologica - Category: ENT & OMF Authors: Tags: Acta Otolaryngol Source Type: research
Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A  > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain a...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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