Disease-In-A-Dish Models Show Promise For Treating Ataxia Telangiectasia
Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T). Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 14, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
Mutations In Genes That Regulate Cellular Metabolism Found In Families With Ataxia, Dementia And Reproductive Failure
Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia - a lack of muscle coordination - and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 13, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
UCLA stem cell researchers move toward treatment for rare genetic nerve disease
Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T).
Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory. The study appears online ahead of print in the jour...
Source: UCLA Newsroom: Health Sciences - May 10, 2013 Category: Universities & Medical Training Source Type: news
UCLA stem cell researchers move toward treatment for rare genetic nerve disease
(University of California - Los Angeles) UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia. Their discovery shows positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPSC are made from patient skin cells rather than from embryos and can become any type of cells in the laboratory. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 10, 2013 Category: Global & Universal Source Type: news
Mass. General, Duke study identifies 2 genes that combine to cause rare syndrome (EurekAlert, 8 May 2013)
A US study published in the New England Journal of Medicine identifies two genes involved in the ubiquitin system that may be associated with a rare syndrome combining ataxia and hypogonadotropic hypogonadism.
Full article (Source: Society for Endocrinology)
Source: Society for Endocrinology - May 9, 2013 Category: Endocrinology Source Type: news
Disruptions in Trash-Collecting Genes Fuel Disorder (CME/CE)
(MedPage Today) -- Genetic mutations that halt a cell's ability to scrap unnecessary proteins may cause a condition marked by ataxia, hypogonadotrophic hypogonadism, and dementia, researchers found. (Source: MedPage Today Cardiovascular)
Source: MedPage Today Cardiovascular - May 8, 2013 Category: Cardiology Source Type: news
Science surprise: Toxic protein made in unusual way may explain brain disorder
(University of Michigan Health System) A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities. The discovery may lead to better treatments for older adults with a recently discovered genetic condition, called Fragile X-associated Tremor Ataxia Syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 18, 2013 Category: Global & Universal Source Type: news
New Structural Insight Into Neurodegenerative Disease
A research team from the Korea Advanced Institute of Science and Technology (KAIST) released their results on the structure and molecular details of the neurodegenerative disease-associated protein Ataxin-1. Mutations in Ataxin-1 cause the neurological disease, Spinocerebella Ataxia Type 1 (SCA1), which is characterized by a loss of muscular coordination and balance (ataxia), as is seen in Parkinson's, Alzheimer's, and Huntington's diseases. SCA1-causing mutations in the ATAXIN1 gene alter the length of a glutamine stretch in the Ataxin-1 protein... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - March 18, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
What Is The Cost Of Rare Diseases Such As Friedreich's Ataxia?
What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year. Proper understanding resource allocation is important in minimizing the effect of Friedreich's Ataxia on people's lives while maximizing their quality of life. Diseases are classified as "rare" if they affect less than 1 in 2000 people... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - March 1, 2013 Category: Consumer Health News Tags: Genetics Source Type: news
Strategies adopted by cerebellar ataxia patients to perform U-turns - Serrao M, Mari S, Conte C, Ranavolo A, Casali C, Draicchio F, Di Fabio R, Bartolo M, Monami S, Padua L, Pierelli F.
Cerebellar ataxia is associated with unsteady, stumbling gait, and affected patients report a high rate of falls, particularly during locomotor tasks. U-turns (180° turns while walking) require a high level of coordination in order to completely reverse t... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - January 19, 2013 Category: Global & Universal Tags: Falls Source Type: news
First case-report: designer Quaalude intoxication
methylmethaqualone
methaqualone
3.5 out of 5 stars
Acute neurotoxicity associated with recreational use of methylmethaqualone confirmed b liquid chromatography tandem mass spectrometry. Ceschi A et al. Clin Toxicol 2013;52:54-7.
Abstract
Methylmethaqualone (MMQ) is a designer drug made by adding a methyl group to the long-restricted sedative-hypnotic molecule methaqualone (Quaalude). This paper represents the first case report describing a confirmed case of methylmethaqualone toxicity.
A 24-year-old man presented to the emergency department approximately 2-3 hours after washing down se...
Source: The Poison Review - January 12, 2013 Category: Toxicology Authors: Leon Tags: Medical Keith Richards mandrax methaqualone methylmethaqualone quaalude Source Type: news
Falling due to vitamin B12 deficiency - Jansen L, van der Linden CM.
BACKGROUND: Ataxia due to a vitamin B12 deficiency can be a cause of falls in elderly patients. CASE DESCRIPTION: An 86-year-old woman presented with functional decline and gait problems. She had been falling regularly. The patient's gait was ataxic and sh... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - January 12, 2013 Category: Global & Universal Tags: Age: Elder Adults Source Type: news
Edison commences EPI-743 Phase IIb Friedreich's ataxia trial
Edison Pharmaceuticals has commenced a Phase IIb clinical trial of EPI-743, an orally bioavailable small molecule being developed for the treatment of Friedreich's ataxia and other inherited mitochondrial diseases. (Source: Drug Development Technology)
Source: Drug Development Technology - January 8, 2013 Category: Pharmaceuticals Source Type: news
What Do You Do About Barotrauma to the Ear?
Discussion
Most ear barotrauma discussions are directed toward diving barotrauma where patients may have sudden nausea, headache, ear pain, tinnitus, deafness and vertigo. The tympanic membrane itself is evaluated on the Teed scale:
0 – Normal ear
1 – Congestion around the umbo, (happens with pressure differential of 2 pounds per square inch)
2 – Congestion of entire tympanic membrane (happens with a pressure differential of 2-3 pounds per square inch)
3 – Middle ear hemorrhage
4 – Extensive middle ear hemorrhage with visible blood bubbles behind the tympanic membrane, and tympanic membrane m...
Source: PediatricEducation.org - January 7, 2013 Category: Pediatrics Authors: Donna M. D'Alessandro, M.D. Tags: Uncategorized Source Type: news
Proceedings of the National Academy of Sciences USA 109: 21319-21324 (12-26-12)
Proceedings of the National Academy of Sciences USA 109: 21319-21324 Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes Shaun D. McCullough, Xiaojiang Xu, Sharon Y. R. Dent, Stefan Bekiranov, Robert G. Roederc … More » (Source: The Rockefeller University Newswire)
Source: The Rockefeller University Newswire - December 26, 2012 Category: Biomedical Science Authors: pubaff Tags: Research Update Source Type: news
