Could statins ease deadly heart condition in rare neuromuscular disease?
(University of Pennsylvania School of Medicine) Decreased HDL and ApoA-l levels in the general population are associated with an increased risk of death from cardiomyopathy and heart failure. Researchers found the FA patients had serum ApoA-I levels lower than healthy control subjects. In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the " good cholesterol. " (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 17, 2018 Category: International Medicine & Public Health Source Type: news

New options for targeting gene mutation in FA described in nucleic acid therapeutics
(Mary Ann Liebert, Inc./Genetic Engineering News) Researchers have shown that a wide variety of synthetic antisense oligonucleotides with different chemical modifications can activate the frataxin gene, which contains a mutation that decreases its expression in the inherited neurologic disorder Friedreich's ataxia (FA). (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - March 8, 2018 Category: Biology Source Type: news

Research reveals a mechanism that drives ataxia type 1
(Baylor College of Medicine) Researchers have learned that polyQ-ATAXIN1 and capicua form a complex that is sufficient to trigger spinocerebellar ataxia type 1 in mice. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - March 8, 2018 Category: Biology Source Type: news

David Geffen School Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,” Martin s...
Source: UCLA Newsroom: Health Sciences - February 17, 2018 Category: Universities & Medical Training Source Type: news

David Geffen School of Medicine at UCLA presents award for excellence in basic science research
Dr. Huda Zoghbi, a Baylor College of Medicine professor whose work holds promise for treating a range of neurological and neuropsychiatric disorders, received an annual award for excellence in biological and biomedical sciences research from theDavid Geffen School of Medicine at UCLA.The medical school ’s dean, Dr. Kelsey Martin, presented Zoghbi with the 2017Switzer Prize during a Feb. 16 ceremony. Zoghbi received a $25,000 honorarium and a statuette.“Her story is a beautiful illustration of the connection between medicine and science, and a lesson in the value of maintaining curiosity and open-mindedness,” Martin s...
Source: UCLA Newsroom: Health Sciences - February 16, 2018 Category: Universities & Medical Training Source Type: news

Can smoking marijuana cause meningitis?
Cryptococcus neoformans (wikipedia.org) 2.5 out of 5 stars Cryptococcal meningitis in a daily cannabis smoker without evidence of immunodeficiency. Shapiro BB et al. BMJ Case Rep 2018 Jan 26 [Epub ahead of print] Abstract Can smoking marijuana cause meningitis? The question is not unreasonable. A wide range of pathogenic fungi — including Aspergillus and various Cryptococcus species — have been isolated from dispensary-grade medical marijuana samples. Concern that these pathogens could cause pneumonia or central nervous system infections has focussed on those with immunodeficiency, such as HIV and organ transplant...
Source: The Poison Review - February 2, 2018 Category: Toxicology Authors: Leon Gussow Tags: Medical cannabis cryptococcus fungal infection marijuana meningitis Source Type: news

Should I Worry About This Telangiectasia?
Discussion Vascular stains are common problems that parents seek guidance about as they are often particularly worried that there may be an underlying problem or that it may be a long-term cosmetic problem. Fortunately many resolve or become less prominent or have treatment available. The term vascular stains includes all vascular malformations but commonly refers more directly to capillary malformations which are quite common. Some common vascular stains include: Nevus simplex Names: Angel’s kiss (glabella or forehead), salmon patch, stork bite (nape of neck), nevus roseus, fading macular stain Epidemiology: Very ...
Source: PediatricEducation.org - January 29, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Medical News Today: What happens in gluten ataxia?
Learn about gluten ataxia, where the intake of gluten can trigger an attack on the nervous system. We look at the symptoms, diagnosis, and treatment. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - January 25, 2018 Category: Consumer Health News Tags: Food Intolerance Source Type: news

Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB
What did brain MRI reveal about the cause of ataxia in this patient recently diagnosed with HIV infection and miliary tuberculosis?Applied Radiology (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - January 16, 2018 Category: Consumer Health News Tags: Radiology Journal Article Source Type: news

Construct validity and reliability of the SARA Gait and Posture Sub-scale in early onset ataxia - Lawerman TF, Brandsma R, Verbeek RJ, van der Hoeven JH, Lunsing RJ, Kremer HPH, Sival DA.
AIM: In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform... (Source: SafetyLit)
Source: SafetyLit - January 16, 2018 Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news

What Treatment is Recommended for Common Headaches?
Discussion Headache is pain in the scalp, forehead, orbits and temple. Facial and neck pain are usually excluded from this definition. It is a common problem with more than 6 million pediatric patients having migraine. Headaches can also have co-morbidities and more than 1 primary headache type can co-exist. The costs are high both economically and in the quality of life for the patients and families. A review of common headache types and indications for neuroimaging can be found here. Treatment is necessarily multi-pronged. Patients should understand their diagnosis so they can understand what reasonably can be expected...
Source: PediatricEducation.org - January 15, 2018 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

ATM directs DNA damage responses and proteostasis via genetically separable pathways
The protein kinase ATM is a master regulator of the DNA damage response but also responds directly to oxidative stress. Loss of ATM causes ataxia telangiectasia, a neurodegenerative disorder with pleiotropic symptoms that include cerebellar dysfunction, cancer, diabetes, and premature aging. We genetically separated the activation of ATM by DNA damage from that by oxidative stress using separation-of-function mutations. We found that deficient activation of ATM by the Mre11-Rad50-Nbs1 complex and DNA double-strand breaks resulted in loss of cell viability, checkpoint activation, and DNA end resection in response to DNA dam...
Source: Signal Transduction Knowledge Environment - January 9, 2018 Category: Science Authors: Lee, J.-H., Mand, M. R., Kao, C.-H., Zhou, Y., Ryu, S. W., Richards, A. L., Coon, J. J., Paull, T. T. Tags: STKE Research Articles Source Type: news

A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation
The ataxia telangiectasia mutated and Rad3-related (ATR) kinase is crucial for DNA damage and replication stress responses. Here, we describe an unexpected role of ATR in mitosis. Acute inhibition or degradation of ATR in mitosis induces whole-chromosome missegregation. The effect of ATR ablation is not due to altered cyclin-dependent kinase 1 (CDK1) activity, DNA damage responses, or unscheduled DNA synthesis but to loss of an ATR function at centromeres. In mitosis, ATR localizes to centromeres through Aurora A–regulated association with centromere protein F (CENP-F), allowing ATR to engage replication protein A (R...
Source: ScienceNOW - January 4, 2018 Category: Science Authors: Kabeche, L., Nguyen, H. D., Buisson, R., Zou, L. Tags: Cell Biology reports Source Type: news

Study reveals reversibility of Friedreich ’s ataxia in mice
Friedreich ’s ataxia is an inherited disease that causes damage to the nervous system and a loss of coordination that typically progresses to muscle weakness. It can begin causing symptoms in childhood or early adulthood and, over time, it can also lead to vision loss and diabetes.Scientists seeking a better understanding of the disease have tried for years to replicate the disease ’s symptoms and progression in laboratory mice, but until recently have been largely unsuccessful.Now, a team of UCLA researchers has recreated aspects of Friedreich ’s ataxia in mice and shown that many early symptoms of the disease are c...
Source: UCLA Newsroom: Health Sciences - January 2, 2018 Category: Universities & Medical Training Source Type: news

Synthetic transcription elongation factors license transcription across repressive chromatin
The release of paused RNA polymerase II into productive elongation is highly regulated, especially at genes that affect human development and disease. To exert control over this rate-limiting step, we designed sequence-specific synthetic transcription elongation factors (Syn-TEFs). These molecules are composed of programmable DNA-binding ligands flexibly tethered to a small molecule that engages the transcription elongation machinery. By limiting activity to targeted loci, Syn-TEFs convert constituent modules from broad-spectrum inhibitors of transcription into gene-specific stimulators. Here we present Syn-TEF1, a molecul...
Source: ScienceNOW - December 21, 2017 Category: Science Authors: Erwin, G. S., Grieshop, M. P., Ali, A., Qi, J., Lawlor, M., Kumar, D., Ahmad, I., McNally, A., Teider, N., Worringer, K., Sivasankaran, R., Syed, D. N., Eguchi, A., Ashraf, M., Jeffery, J., Xu, M., Park, P. M. C., Mukhtar, H., Srivastava, A. K., Faruq, M. Tags: Biochemistry, Medicine, Diseases reports Source Type: news