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MedWorm: Ataxia News



MedWorm.com provides a medical RSS filtering service. Thousands of medical RSS feeds are combined and output via different filters. This feed contains the latest news in Ataxia



Last Build Date: Wed, 21 Feb 2018 03:34:43 +0100

 



David Geffen School Medicine at UCLA presents award for excellence in basic science research

Sat, 17 Feb 2018 09:02:42 +0100

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 said.Zoghbi, who holds faculty appointments at Baylor in pediatrics, molecular and human genetics, neurology, and neuroscience, said she was humbled by the recognition and...

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David Geffen School of Medicine at UCLA presents award for excellence in basic science research

Fri, 16 Feb 2018 23:31:00 +0100

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 said.Zoghbi, who holds faculty appointments at Baylor in pediatrics, molecular and human genetics, neurology, and neuroscience, said she was humbled by the recognition and...



Can smoking marijuana cause meningitis?

Fri, 02 Feb 2018 19:30:02 +0100

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 patients. This case report describes at 48-year-old California woman who presented to hospital with a “2-month history of progressive fatigue, dizziness, memory im...



Should I Worry About This Telangiectasia?

Mon, 29 Jan 2018 00:51:18 +0100

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 common in newborns (82%) Appearance: Pink to bright red or violaceous with indistinct borders, midline location. Becomes more distinct with activity Associated with: ecze...



Medical News Today: What happens in gluten ataxia?

Thu, 25 Jan 2018 17:00:00 +0100

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)



Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB Anterior Cerebral Artery Vasculopathy Secondary to Miliary TB

Tue, 16 Jan 2018 09:14:33 +0100

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)

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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.

Tue, 16 Jan 2018 04:45:18 +0100

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)



What Treatment is Recommended for Common Headaches?

Mon, 15 Jan 2018 00:46:32 +0100

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 from treatment, how they can prevent headaches and how they can help to treat themselves once the headache occurs. When patients and families think about treatment for h...



ATM directs DNA damage responses and proteostasis via genetically separable pathways

Tue, 09 Jan 2018 00:00:00 +0100

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 damage. In contrast, loss of oxidative activation of ATM had minimal effects on DNA damage–related outcomes but blocked ATM-mediated initiation of checkpoint responses...



A mitosis-specific and R loop-driven ATR pathway promotes faithful chromosome segregation

Thu, 04 Jan 2018 00:00:00 +0100

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 (RPA)–coated centromeric R loops. As ATR is activated at centromeres, it stimulates Aurora B through Chk1, preventing formation of lagging chromosomes. Thus, a mitosi...



Study reveals reversibility of Friedreich ’s ataxia in mice

Tue, 02 Jan 2018 20:22:00 +0100

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 completely reversible when the genetic defect linked to the ataxia is reversed.The findings appear in the journal eLife.“Remarkably, most of the dysfunction we were se...

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Synthetic transcription elongation factors license transcription across repressive chromatin

Thu, 21 Dec 2017 00:00:00 +0100

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 molecule that actively enables transcription across repressive GAA repeats that silence frataxin expression in Friedreich’s ataxia, a terminal neurodegenerative disease wi...



A systematic review of the gait characteristics associated with cerebellar ataxia - Buckley E, Mazz à C, McNeill A.

Mon, 11 Dec 2017 08:06:08 +0100

BACKGROUND: Cerebellar Ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. T... (Source: SafetyLit)



How Does Pediatric Sj ö gren Syndrome Present?

Mon, 11 Dec 2017 00:37:32 +0100

Discussion Sjögren Syndrome (SS) is named for Swedish ophthalmologist Henrik Sjögren who published a case series in 1933 describing patients with dry eyes and arthritis. SS is a “chronic autoimmune inflammatory exocrinopathy” that is characterized by lymphocytic infiltration of the lacrimal and salivary glands and has various degrees of systematic involvement. Keratoconjunctivitis sicca and xerostomia are the main clinical symptoms. Sicca is a Latin word meaning dry. Dryness of the eyes and mouth without evidence of autoimmune disease is called Sicca syndrome or Sicca complex. SS can be primary or secondary. Primary includes keratoconjunctivitis sicca and xerostomia which is the same as Sicca syndrome. Secondary includes keratoconjunctivitis sicca and xerostomia and ...



3.9 A structure of the yeast Mec1-Ddc2 complex, a homolog of human ATR-ATRIP

Thu, 30 Nov 2017 00:00:00 +0100

The ataxia telangiectasia–mutated and Rad3-related (ATR) kinase is a master regulator of DNA damage response and replication stress in humans, but the mechanism of its activation remains unclear. ATR acts together with its partner ATRIP. Using cryo–electron microscopy, we determined the structure of intact Mec1-Ddc2 (the yeast homolog of ATR-ATRIP), which is poised for catalysis, at a resolution of 3.9 angstroms. Mec1-Ddc2 forms a dimer of heterodimers through the PRD and FAT domains of Mec1 and the coiled-coil domain of Ddc2. The PRD and Bridge domains in Mec1 constitute critical regulatory sites. The activation loop of Mec1 is inhibited by the PRD, revealing an allosteric mechanism of kinase activation. Our study clarifies the architecture of ATR-ATRIP and provides a structur...



Early intervention may hold key to treatment of Friedreich's ataxia

Wed, 08 Nov 2017 05:00:00 +0100

(The Company of Biologists) Current treatments may be administered too late to target Friedreich's ataxia effectively. New research using a slow-onset frataxin knock-in/knockout mouse model showed significantly reduced levels of mitochondrial biosynthesis proteins and early mitochondrial deficiency in the cerebellar cortex, even at pre-symptomatic stages of development. This suggests that the progressive degeneration in mitochondrial function seen in individuals with Friedreich's ataxia is not only the mechanism causing the disease, but also a potential biomarker and therapeutic target. (Source: EurekAlert! - Medicine and Health)

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Repetitive TMS May Improve Gait, Balance in MS-Related Ataxia Repetitive TMS May Improve Gait, Balance in MS-Related Ataxia

Tue, 07 Nov 2017 12:52:43 +0100

Combined with intensive physical therapy, rTMS over 4 weeks improved gait and balance and decreased falls in patients with ataxia compared with those who received a sham procedure.Medscape Medical News (Source: Medscape Medical News Headlines)



Papers of note in Science Translational Medicine 9 (413)

Tue, 31 Oct 2017 00:00:00 +0100

This week’s articles describe new therapeutic targets for pulmonary arterial hypertension, acute myeloid leukemia, and Friedreich’s ataxia. (Source: Signal Transduction Knowledge Environment)



Transplanted hematopoietic stem cells reverse damage caused by neuro-muscular disorder

Thu, 26 Oct 2017 03:00:00 +0100

Researchers at University of California San Diego School of Medicine report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative disease. The findings, published online in the October 25 issue of Science Translational Medicine, suggest a potential therapeutic approach for a disease that currently is considered incurable. (Source: World Pharma News)



Resveratrol stimulates the metabolic reprogramming of human CD4+ T cells to enhance effector function

Tue, 17 Oct 2017 00:00:00 +0100

The polyphenol resveratrol activates the deacetylase Sirt1, resulting in various antioxidant, chemoprotectant, neuroprotective, cardioprotective, and anti-inflammatory properties. We found that at high concentrations of resveratrol, human CD4+ T cells showed defective antigen receptor signaling and arrest at the G1 stage of the cell cycle, whereas at low concentrations, cells were readily activated and exhibited enhanced Sirt1 deacetylase activity. Nevertheless, low-dose resveratrol rapidly stimulated genotoxic stress in the T cells, which resulted in engagement of a DNA damage response pathway that depended on the kinase ATR [ataxia telangiectasia–mutated (ATM) and Rad3-related], but not ATM, and subsequently in premitotic cell cycle arrest. The concomitant activation of p53 was cou...

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Biohaven Reports Negative Topline Data from Spinocerebellar Ataxia (SCA) Phase 2/3 Trial

Mon, 02 Oct 2017 13:01:13 +0100

Trigriluzole did not differentiate from placebo on the primary endpoint or key secondary outcome measure at the end of the 8-week randomization phase. Placebo response rates in this study were higher than expected compared to prior European randomized c... Biopharmaceuticals, Neurology Biohaven Pharmaceutical, trigriluzole, spinocerebellar ataxia (Source: HSMN NewsFeed)



What Clinical Signs Can Be Associated With Benign External Hydrocephalus?

Mon, 02 Oct 2017 00:18:43 +0100

Discussion Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles and/or subarachnoid spaces. External hydrocephalus is a communicating hydrocephalus often defined as the patient having a rapidly enlarging head circumference (HC) and enlargement of the subarachnoid spaces especially over the frontal lobes with normal or moderately enlarged ventricles. Benign external hydrocephalus (BEH) is a self-limited external hydrocephalus that occurs during infancy and resolves spontaneously in childhood, usually by age 2 years, that is felt to not cause significant problems. It was first described by W.E. Dandy 1947 and there have been other terms used to describe this entity that indicate further understanding of the entity and the presumed pathophysiology. A recen...



What Causes Microcephaly?

Mon, 25 Sep 2017 00:22:33 +0100

Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births. The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several different international standard growth charts that can be used and those used should reflect the population the patient is drawn from the best. For example, the World Health...



Jupiter Orphan Therapeutics Receives Orphan Drug Designation for its Trans-Resveratrol Product JOTROL for Treatment of Friedreich's Ataxia

Tue, 22 Aug 2017 15:05:41 +0100

JUPITER, Fla., Aug. 22, 2017 -- (Healthcare Sales & Marketing Network) -- Jupiter Orphan Therapeutics, Inc. ("JOT"), Jupiter, FL, today announced that it has received notification from the US Food and Drug Administration (FDA) that its Orphan Dr... Biopharmaceuticals, Neurology, FDA Jupiter Orphan Therapeutics, JOTROL, Resveratrol, Friedreich's Ataxia (Source: HSMN NewsFeed)



Patient Reps: Bringing the voice of patients to FDA

Mon, 31 Jul 2017 11:00:56 +0100

By: Jack Kalavritinos At FDA we never lose sight of the fact that the work we do in evaluating and approving new medical products is done to benefit patients. Increasingly, that means taking into account the views and expertise of patients and their caregivers, because they provide a unique voice and perspective and know best what they are living with on a day-to-day basis. Earlier this month, for instance, we announced the creation of the first advisory committee made up solely of patients and caregivers, who will provide advice on complex issues related to medical devices. Another way we incorporate the patient viewpoint is through FDA’s Patient Representative Program. This program brings patients – and their caregivers – and the extraordinary breadth of knowledge and personal expe...

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Genetic sequencing unravels rare disease mysteries

Tue, 18 Jul 2017 16:31:38 +0100

When Audrey Lapidus ’ 10-month old son, Calvin, didn’t reach normal milestones like rolling over or crawling, she knew something was wrong.“He was certainly different from our first child,” said Lapidus, of Los Angeles. “He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.”Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.“I was pushing for even more testing, and our geneticist at UCLA said, ‘If you can wait one more month, we’re going to be launching a brand new test called exome sequencing,’” she said. “We were lucky to be in the right place at the right time and get the information we did.”In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He w...



David Geffen School of Medicine at UCLA names winner of Switzer Prize for research excellence

Mon, 19 Jun 2017 18:30:00 +0100

Dr. Huda Zoghbi, a neurologist whose work has revealed the molecular basis of neurological disorders, is the recipient of the 2017 Switzer Prize awarded by theDavid Geffen School of Medicine at UCLA for excellence in biological and biomedical sciences research.Zoghbi ’s lab at the Baylor College of Medicine identified a gene mutation that causes Rett syndrome, a severe genetic disorder that mostly affects girls. After a short period of apparently normal development, the disorder causes them to lose language and motor skills, typically by 18 months of age. The discovery paved the way for a genetic test to diagnose the disorder. The same gene mutation can also cause autism, juvenile-onset schizophrenia and other neuropsychiatric disorders.Zoghbi also discovered the molecular mechanism of s...



Hope for Patients with Friedreich's Ataxia and Related Diseases - Neurodegenerative Disease Mechanism and Potential Drug Identified

Thu, 08 Jun 2017 16:31:59 +0100

UCD researchers report on new studies of progressive, neurodegenerative diseases linked to defects in cells mitochondria and hope for developing a new biomarker and drug for treating such diseases (Source: Disabled World)



Hemp seed oil may possibly (but not probably) cause cannabinoid poisoning

Wed, 10 May 2017 06:41:06 +0100

2.5 out of 5 stars Cannabinoid Poisoning by Hemp Seed Oil in a Child. Chinello M et al. Pediatr Emerg Care 2017;33:344-345. Abstract This interesting but non-dispositive short case report from Italy suggests that, in rare instances, commercially marketed hemp seed oil can cause mild cannabinoid toxicity. A 2-year-7-month old male was brought to hospital with altered mental status and several hours of “decreased alertness, refusal to walk, and no verbal response.” Additional findings included: “paleness, stupor, [and] low reactivity to stimulation.” Pulse rate was 129 bpm. There was no ataxia. The parents reported that the child had been given CANAH hemp seed oil (1 tsp twice daily) for the preceding 3 weeks, prescribed by a pediatrician to “strengthen his imm...



Treatment shows promise in models of fatal neurological disorders

Tue, 25 Apr 2017 00:00:00 +0100

A gene-silencing drug improved symptoms in mouse models of ataxia and amyotrophic lateral sclerosis. The results suggest a possible therapy for these untreatable neurological diseases. (Source: NIH Research Matters from the National Institutes of Health (NIH))

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p53 dynamics in response to DNA damage vary across cell lines and are shaped by efficiency of DNA repair and activity of the kinase ATM

Tue, 25 Apr 2017 00:00:00 +0100

Cellular systems show a wide range of signaling dynamics. Many of these dynamics are highly stereotyped, such as oscillations at a fixed frequency. However, most studies looking at the role of signaling dynamics focus on one or a few cell lines, leaving the diversity of dynamics across tissues or cell lines a largely unexplored question. We focused on the dynamics of the tumor suppressor protein p53, which regulates cell cycle arrest and apoptosis in response to DNA damage. We established live-cell reporters for 12 cancer cell lines expressing wild-type p53 and quantified p53 dynamics in response to double-strand break–inducing DNA damage. In many of the tested cell lines, we found that p53 abundance oscillated in response to ionizing radiation or the DNA-damaging chemotherapeutic ne...



Gene silencing shows promise for treating two fatal neurological disorders

Wed, 12 Apr 2017 17:23:10 +0100

A drug, engineered to combat the gene that causes spinocerebellar ataxia type 2 (SCA2), might also be used to treat amyotrophic lateral sclerosis (ALS), researchers have demonstrated in two studies of mice. (Source: ScienceDaily Headlines)



What Are the Clinical Symptoms Associated with Friedreich Ataxia?

Mon, 10 Apr 2017 00:48:31 +0100

Discussion Friedreich ataxia (FRDA) was first extensively described in a series of papers from 1863-1877 by Nikolaus Friedreich at the University of Heidelberg, Germany. In 1996 the genetic mutation was described. It is an autosomal recessively inherited, homologous expansion of the GAA repeat in intron 1 of the frataxin gene on chromosome 9q13. It causes a transcription error leading to a decrease in frataxin which is a mitochondrial protein involved in iron metabolism and other cell functions. Frataxin is seen mainly in the central and peripheral nervous systems, heart, pancreas and skeleton. Frataxin is produced but in decreased amounts, and lack of frataxin causes in-utero lethality of the embryo. FRDA is the most common cause of autosomal recessive ataxia. Point estimates are up to p...



Geelong mother opens up about rare inherited disease

Thu, 02 Mar 2017 14:51:43 +0100

Leah Alstin, from Geelong, was diagnosed with Friedreich's ataxia when she was 17 years old. The rare inherited disease progressively damages the nervous system. (Source: the Mail online | Health)

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Borna Disease Virus, Schizophrenia, Bipolar Disorder & Depression

Thu, 02 Feb 2017 14:57:22 +0100

This study closes the door on the relationship between BDV and mental illness in humans. There is no apparent connection between the Borna Disease Virus and schizophrenia, bipolar disorder, or depression.   References Bautista J R, Schwartz G J, de la Torre J C, Moran T H, Carbone K M. Early and persistent abnormalities in rats with neonatally acquired Borna disease virus infection. Brain Res Bull. 1994;34:31–40. Carbone, K. M. (2001). Borna Disease Virus and Human Disease. Clinical Microbiology Reviews, 14(3), 513–527. http://doi.org/10.1128/CMR.14.3.513-527.2001 Dittrich W, Bode L, Ludwig H, Kao M, Schneider K. Learning deficiencies in Borna disease virus-infected but clinically healthy rats. Biol Psychiatry. 1989;26:818–828. Hornig, M, Briese, J Licinio, R F Khabbaz, L L Alts...



Fatal self-envenomation in a brown tree snake, Boiga irregularis, from South-east Queensland: a case report - Hill AG, McKillop L.

Mon, 26 Dec 2016 11:17:31 +0100

The case history and clinical signs of a fatal self-envenomation event by a brown tree snake, Boiga irregularis, in South-east Queensland, Australia, are presented. Clinical signs began 20 minutes post-envenomation with muscle twitching, ataxia, and heat s... (Source: SafetyLit)



SfN: Ballet Improves Ataxia in MS (CME/CE)

Wed, 16 Nov 2016 20:35:02 +0100

(MedPage Today) -- Dance program improved movement in pilot study (Source: MedPage Today Meeting Coverage)



How Long Do Concussive Symptoms Last?

Mon, 31 Oct 2016 00:34:24 +0100

Discussion Concussion as defined by the International Conference on Concussion in Sport in 2012 is “Concussion is a brain injury and is defined as a complex pathophysiological process affecting the brain, induced by biomechanical forces.” It results in quick onset of signs and symptoms of physical and cognitive impairment. Concussion is sometimes referred to as mild traumatic brain injury (TBI) as mild TBI refers to “…concussions that are generally not life threatening despite the potential for short-term disability and serious ongoing sequelae.” Concussion symptoms are usually categorized as: Cognitive – confusion, difficulty remembering, difficulty thinking or concentrating, mentally foggy, delayed motor or verbal responses or “feeling slow̶...



Unilateral Scleral Jaundice in an Elderly Man: An Odd Finding

Thu, 08 Sep 2016 12:16:24 +0100

Left scleral icterus is the only prominent physical finding in the 86-year-old who presented with transient aphasia, ataxia, and general asthenia. Can you dx? (Source: ConsultantLive)

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When Is the Clinical Nadir for Guillain-Barr é Syndrome?

Mon, 08 Aug 2016 00:49:09 +0100

Discussion Guillian-Barré syndrome (GBS) is an acquired, acute, inflammatory, demyelinating polyneuropathy. It is the most common cause of acute and subacute flaccid paralysis in children. GBS causes about 0.4-1.3 cases per 100,000 persons/year in children. It can occur in any age group and the incidence increases among all age groups until a peak in the 50s. Both genders are affected and there may be a slight increase in males. GBS usually occurs 2-4 weeks after a prodromonal gastroenteritis or respiratory illness. It is most often associated with Campylobacter jejunae, Haemophilus infuenza, Mycoplasma pneumoniae, cytomegalovirus, Epstein-Barr virus, and herpes simplex virus. There are some possible associations with GBS and influenza A vaccination but it has not been associated w...



Horizon Pharma plc to Acquire Worldwide Rights to Interferon Gamma-1b From Boehringer Ingelheim International GmbH

Thu, 19 May 2016 13:59:58 +0100

Also Licenses Rights to Patents and Pending Applications Covering Methods for Treating Friedreich's Ataxia With Interferon Gamma-1b; Company Currently Owns the Rights to Interferon Gamma-1b Under the Trade Name ACTIMMUNE(R) in the United States, Canada and... Biopharmaceuticals, Licensing, AcquisitionsHorizon Pharma, Boehringer Ingelheim, interferon gamma-1b (Source: HSMN NewsFeed)






Immune system 'plays a role in dementia'

Fri, 13 May 2016 13:30:00 +0100

Conclusion This review presents evidence supporting the idea that the innate immune system is involved in a range of neurodegenerative conditions, such as Alzheimer's and Parkinson's. Reviews like this are very useful at summarising the current state of science in an area, but may miss important research, unless they are systematic. This review was openly one-sided, transparently exploring the evidence behind one hypothesis. While there is nothing wrong with that, a more systematic and balanced review would add the extra value of being able to discuss alternative ideas and find out how much evidence stacks up behind each one, aiding comparisons.  Despite news coverage suggesting this is a radical new theory, the idea that the immune system might be involved in neurodegenerative conditi...



Horizon Pharma completes patent enrolment for Phase lll trial of actimmuneto treat Friedreich's Ataxia

Thu, 05 May 2016 23:00:00 +0100

Ireland-based biopharmaceutical company Horizon Pharma has completed its target enrolment of 90 patients for Phase lll trial of actimmune (interferon gamma-1b) to treat Friedreich's Ataxia (FA) disease. (Source: Drug Development Technology)

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Metronidazole-induced cerebellar syndrome

Fri, 15 Apr 2016 20:45:35 +0100

3.5 out of 5 stars Metronidazole-Associated Encephalopathy. Farmakiotis D, Zeluff B. N Engl J Med 2016 Apr 14;374:1465 Full Text            Exposure to metronidazole (Flagyl) can precipitate a subacute cerebellar syndrome, typically manifested with dysarthria and ataxia, with or without cognitive impairment. This adverse effect is uncommon and little-appreciated. Although usually associated with prolonged exposure to the antibiotic for treatment of conditions such as abscesses of Clostridium difficile-associated diarrhea and occurring after total cumulative dose > 20 gm, the syndrome can occur after lower doses. Risk factors include liver disease. Typical MRI findings include symmetric, enhanced areas in the cerebellar dentate nuclei using a fluid-attenuated inversion recover...



UCLA research suggests that gut bacteria could help prevent cancer

Wed, 13 Apr 2016 21:13:22 +0100

Researchers have shown that various types of intestinal bacteria might be factors in both causing and preventing obesity, and in other conditions and diseases. Now, a UCLA study suggests that it could also potentially be used to reduce the risk for some types of cancer. The research, published online April 13 in the peer-reviewed journal PLOS ONE, offers evidence that anti-inflammatory “health beneficial” gut bacteria can slow or stop the development of some types of cancer. Ultimately, doctors might be able to reduce a person’s risk for cancer by analyzing the levels and types of intestinal bacteria in the body, and then prescribing probiotics to replace or bolster the amount of bacteria with anti-inflammatory properties, said Robert Schiestl, professor of pathology, environmental...



Exome sequencing improves doctors’ ability to diagnose hard-to-pin-down neurogenetic disorders

Tue, 05 Apr 2016 23:36:17 +0100

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions. The test, called exome sequencing, involves determining the order of all of the genes in a person’s genome. When used in concert with a complete patient evaluation and family medical history, the approach can help doctors identify disorders that may have gone undiagnosed for years, said Dr. Brent Fogel, first author of a review that appears in the April issue of Neurology Clinical Practice. Exome sequencing is more efficient and les...



Biodex fall risk assessment in the elderly with ataxia: a new age-dependent derived index in rehabilitation: an observational study - Prometti P, Olivares A, Gaia G, Bonometti G, Comini L, Scalvini S.

Fri, 25 Mar 2016 16:13:53 +0100

The aim of this study was to evaluate if the Biodex Fall Risk Assessment could provide an age-adjusted index useful for classifying patients at "risk of fall."This was a cohort study conducted on 61 chronic patients, in stable conditions, having a history ... (Source: SafetyLit)



Genetic Cause of Spinocerebellar Ataxia (SCA) Identified

Mon, 14 Mar 2016 15:32:00 +0100

Researchers identify new mutation responsible for Spinocerebellar Ataxia (SCA), a degenerative and ultimately fatal movement disorder (Source: Disabled World)

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MedlinePlus: Ataxia telangiectasia

Fri, 11 Mar 2016 05:17:52 +0100

(Source: NLM General Announcements)



UT Southwestern scientists find potential treatment for Friedreich's ataxia

Tue, 16 Feb 2016 05:00:00 +0100

(UT Southwestern Medical Center) Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia, a neurological disease for which there is currently no cure. (Source: EurekAlert! - Biology)



Children's Guaifenesin Grape Liquid and Guaifenesin DM Cherry Liquid by Perrigo Company: Recall - Potential Defect with Dosage Cup

Wed, 13 Jan 2016 14:00:00 +0100

An overdose of Guaifenesin DM may cause hyper excitability, rapid eye movements, changes in muscle reflexes, ataxia, dystonia, hallucinations, stupor, and coma. (Source: FDA MedWatch)



Recall Issued For Children’s Cold Medicine

Tue, 12 Jan 2016 13:38:21 +0100

BOSTON (CBS) — A recall for a children’s cold medicine sold by retailers like CVS and Stop and Shop has been issued. In a release posted on the company’s website, Perrigo Company said they had issued a recall for two batches of their children’s guaifenesin grape liquid and three batches of their children’s guaifenesin DM cherry liquid. Both products are sold in 4 oz. bottles with a dosage cup included in the package. The recall was issued because the markings on some of the dosage cups are inaccurate–which could lead to overdoses. “There have been no reports of adverse events to Perrigo as a result of the incorrect dosage markings,” said Perrigo Chairman and CEO Joseph C. Papa. “Perrigo is taking this action to maintain the highest ...



Miller Fisher Syndrome: General Overview & Information

Tue, 22 Dec 2015 16:27:16 +0100

Miller Fisher Syndrome or, 'MFS,' is a post-infectious, immune mediated neuropathy characterized in typical instances by the clinical triad of ataxia, areflexia and ophthalmoplegia. MFS is considered to be a variant of Guillain-Barre syndrome or, 'GBS.' The clinical symptoms usually develop within days and improve spontaneously or following treatment within a period of weeks. People with MFS often show only part of the clinical triad. (Source: Disabled World)

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Certain herpes viruses can infect human neurons

Fri, 04 Dec 2015 05:00:00 +0100

(University of Pennsylvania School of Medicine) A tantalizing link exists between some neurologic conditions and certain species of herpes virus. In some patients with Alzheimer's disease, multiple sclerosis, and cerebellar ataxia, among others, the cerebrospinal fluid teems with Epstein-Barr virus. Yet, the link remains unclear. It's been assumed that EBV, and viruses in the same family cannot infect neurons. Now, researchers have shown that EBV and Kaposi's sarcoma-associated herpesvirus can infect and replicate in cultured and primary neurons. (Source: EurekAlert! - Infectious and Emerging Diseases)



Genetic defect underlying a rare disease identified

Fri, 13 Nov 2015 10:13:36 +0100

The genetic cause has been identified for a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy and ataxia (a movement disorder), when the patient reaches school age. In 2007 the same researchers published a mutation in the Scyl1 gene in a naturally occurring mouse mutant with similar symptoms. Using next-generation sequencing techniques, they have now succeeded in identifying the first cases of a corresponding condition in humans. (Source: ScienceDaily Headlines)



Genomics Moves From the Lab to the Doctor's Office

Thu, 15 Oct 2015 16:58:34 +0100

By Diana Brazzell, Co-Founder & Executive Editor, Footnote This post was originally published on Footnote, a website that brings academic research and ideas to a broader audience. Since the discovery of DNA, people have anticipated how deciphering the secrets in our genes might one day transform medicine. The first commonly used genetic tests appeared in the 1970s and the full human genome was sequenced in 2003. But it is only in the past decade, as sequencing technology advanced rapidly and the price tag plummeted, that genomic medicine has started to become a reality.(a) We're finally gaining access to a huge piece of the medical puzzle - our genetic code - that was previously missing. The spread of genomics is launching a "new era" in medicine, according to Dr. Alexander Parker, an e...



Autoimmune Cerebellar Ataxia May Respond to ImmunotherapyAutoimmune Cerebellar Ataxia May Respond to Immunotherapy

Wed, 30 Sep 2015 17:41:42 +0100

A new study of patients with autoimmune cerebellar ataxia, often a complication of cancer, has found it is not always untreatable and that many patients respond well to immunotherapy, particularly if started early. Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)



Autoimmune cerebellar ataxia

Tue, 29 Sep 2015 04:00:00 +0100

(Mayo Clinic) While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help predict better immunotherapy response, according to the Mayo Clinic study published by JAMA Neurology. (Source: EurekAlert! - Medicine and Health)

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Autoimmune cerebellar ataxia: Study finds treatment promises for a disease previously considered hopeless

Tue, 29 Sep 2015 00:00:00 +0100

ROCHESTER, Minn. — While autoimmune cerebellar ataxia (a loss of muscle control coordination) can lead to severe disability with some patients becoming wheelchair-bound, there are factors that may help predict better immunotherapy response, according to the Mayo Clinic study published by JAMA Neurology. https://www.youtube.com/watch?v=tsriW0BD638 Autoimmune cerebellar ataxia in adults, which usually comes on rapidly and [...] (Source: News from Mayo Clinic)



Coordinating traffic down the neuronal highway

Fri, 18 Sep 2015 15:14:38 +0100

An international team of researchers has identified a protein that regulates the growth of neurons by transporting key metabolic enzymes to the tips of neural cells. Their findings open up new avenues for design of drugs for ataxia, a motor coordination disorder. (Source: ScienceDaily Headlines)



University of South Florida and Friedreich's Ataxia Research Alliance to host scientific symposium

Tue, 01 Sep 2015 04:00:00 +0100

(University of South Florida (USF Health)) The University of South Florida will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium 'Understanding Energy for A Cure.' The symposium will be held 5:00 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom in Tampa, FL. (Source: EurekAlert! - Medicine and Health)



Henry Barber-Riley staggers around, slurs his words and vomits due to rare genetic condition

Tue, 25 Aug 2015 10:43:14 +0100

Henry Barber-Riley, five, from Lutterworth, Leicstershire, suffers from episodic ataxia type 2, which causes him to have 'episodes' in which he staggers and slurs his words. (Source: the Mail online | Health)

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More falls in cerebellar ataxia when standing on a slow up-moving tilt of the support surface - Paquette C, Franzén E, Horak FB.

Fri, 07 Aug 2015 20:29:30 +0100

We investigated how subjects with cerebellar ataxia (CA) adapt their postural stability and alignment to a slow and small tilt of the support surface allowing for online postural corrections. Eight subjects with CA and eight age- and gender-matched healthy... (Source: SafetyLit: All (Unduplicated))



Decreasing fall risk in spinocerebellar ataxia - Santos de Oliveira LA, Martins CP, Horsczaruk CH, Lima da Silva DC, Martins JV, Vasconcelos LF, Rodrigues Ede C.

Wed, 22 Jul 2015 20:34:01 +0100

[Purpose] Spinocerebellar ataxia consists of a group of autosomal dominant disorders that cause progressive degeneration, mainly in the cerebellum and its connections. Falls, which are a significant concern of this condition, reduce patients' mobility, det... (Source: SafetyLit: All (Unduplicated))



Ataxia mouse model: Eye blink conditioning for early diagnosis of human disease SCA6

Wed, 17 Jun 2015 13:17:52 +0100

Scientists have established a mouse model for the human disease SCA6. SCA6 is characterized by movement deficits and caused by similar genetic alterations as Chorea Huntington. The mouse model will be used to investigate the disease mechanisms. Experiments suggest that an impairment of eye blink conditioning could be an early disease symptom. (Source: ScienceDaily Headlines)



Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas - Godani M, Canavese F, Migliorini S, Sette MD.

Wed, 10 Jun 2015 19:11:20 +0100

The practice of inhaling liquefied petroleum gas (LPG) to commit suicide is uncommon and almost exclusively a prerogative of the prison population. Numerous cases of sudden deaths caused by intentional propane and/or butane inhalation have been described, ... (Source: SafetyLit: All (Unduplicated))



Is Gluten Sensitivity Real?

Mon, 08 Jun 2015 22:51:52 +0100

"If you don't have celiac disease, it makes no sense to be on a gluten-free diet," remains a common refrain from physicians and other health care providers who choose to deny the idea that people who don't carry a diagnosis of celiac disease can have health issues from consuming gluten. Nonetheless, the idea that sensitivity to gluten, a protein found in wheat barley and rye, can indeed relate to medical problems has developed incredible traction in our society, as evidenced by the impressive growth in sales of gluten-free foods. Foods labeled as "gluten-free" have increased in sales an average of 34 percent each year between 2009 and 2014. In fact, last year, global sales of gluten-free food approached an astounding $8.8 billion. "Overall, the gluten-free food market continues to thrive...

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Horizon Pharma begins Actimmune’s Phase III trial for Friedreich's Ataxia

Sun, 07 Jun 2015 23:00:00 +0100

Ireland-based Horizon Pharma has started the Phase III study of Actimmune (interferon gamma-1b) to treat patients with Friedreich's Ataxia (FA), a degenerative neuro-muscular disorder. (Source: Drug Development Technology)



Minor trauma causing stroke in a young athlete - Gupta V, Dhawan N, Bahl J.

Fri, 24 Apr 2015 20:38:43 +0100

A 17-year-old Caucasian male presented with sudden dizziness, ataxia, vertigo, and clumsiness lasting for a couple of hours. He had a subtle trauma during a wrestling match 2 days prior to the presentation. A CT Angiogram (CTA) and MRI showed left vertebra... (Source: SafetyLit: All (Unduplicated))



Gene editing technique could prevent inherited diseases

Fri, 24 Apr 2015 12:45:00 +0100

ConclusionThis early research has developed a new technique to reduce the amount of mutation-carrying DNA within mitochondria. The hope is that this technique might be used in the eggs of women carrying disease-causing mitochondrial mutations.The government has recently given the go ahead for a technique that allows a woman who carries such a disease from passing it on to her child – making the UK the first country to do so. This technique has raised some ethical and safety concerns, as it places the woman’s chromosomes into a donor egg with healthy mitochondria. This means that once this egg is fertilised it contains DNA from three people – the DNA in the nucleus comes from the mother and father, and the mitochondrial DNA comes from the egg donor. This new technique is of interest ...



Horizon Pharma's Friedreich's Ataxia Drug Gets Fast-Track Designation

Fri, 10 Apr 2015 13:50:02 +0100

Horizon Pharma PLC said Friday that its experimental Friedreich’s ataxia treatment has received fast-track designation from the U.S. Food and Drug Administration, a move that could speed approval. (Source: WSJ.com: Health)



Horizon Pharma plc Receives FDA Fast Track Designation for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia

Fri, 10 Apr 2015 13:22:33 +0100

DUBLIN, IRELAND--(Healthcare Sales & Marketing Network) - Horizon Pharma plc (NASDAQ: HZNP), a specialty biopharmaceutical company focused on improving patients' lives by identifying, developing, acquiring and commercializing differentiated products that a... Biopharmaceuticals, Neurology, FDAHorizon Pharma, ACTIMMUNE, Friedreich's Ataxia (Source: HSMN NewsFeed)

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[Editors' Choice] GABA receptors as oxytocin targets

Thu, 19 Mar 2015 11:35:48 +0100

Oxytocin limits the ataxia and sedation effects of ethanol by reducing its potentiation of the GABAA family of Cl- channels. (Source: Signal Transduction Knowledge Environment)



Ataxia: Types, Causes & Symptoms

Thu, 05 Mar 2015 11:28:23 +0100

The word, ‘ataxia,’ describes a lack of muscle control during voluntary movements such as picking up objects or walking. A sign of an underlying condition, ataxia may affect a person’s speech, eye movement, physical movements and swallowing. ‘Persistent ataxia,’ often times results from damage to a person’s cerebellum, the portion of the brain that controls coordination. Many conditions can cause ataxia to include: (Source: Disabled World)



Horizon Pharma plc Submits Investigational New Drug Application for ACTIMMUNE(R) in the Treatment of Friedreich's Ataxia

Fri, 13 Feb 2015 13:12:39 +0100

Phase 3 Study Expected to Begin in Q2 2015 DUBLIN, IRELAND--(Healthcare Sales & Marketing Network) - Horizon Pharma plc (HZNP), a specialty biopharmaceutical company focused on improving patients' lives by identifying, developing, acquiring and commerci... Biopharmaceuticals, Neurology, FDAHorizon Pharma, ACTIMMUNE, Friedreich's Ataxia (Source: HSMN NewsFeed)



Gait and balance in adults with Friedreich's ataxia - Stephenson J, Zesiewicz T, Gooch C, Wecker L, Sullivan K, Jahan I, Kim SH.

Fri, 13 Feb 2015 09:33:52 +0100

Friedreich's ataxia (FA) is an autosomal recessive, neurodegenerative disease characterized by progressive muscle weakness and sensory loss, balance deficits, and gait ataxia. Gait and balance impairments become worse as the disease progresses, but limited... (Source: SafetyLit: All (Unduplicated))



New study links neurological disorders in captive felids to improper diet

Tue, 30 Dec 2014 12:57:54 +0100

A new research study confirms the connection between high incidence of spinal cord issues in cheetahs and lions kept as exotic pets in the United Arab Emirates with dietary deficiencies. The study compared blood and tissue samples among captive felids, including cheetahs, lions and snow leopards, that were fed different diets. Thirty percent of the animals that did not receive supplements and existed primarily on a poultry muscle meat diet displayed clinical neurological signs such as ataxia, lack of coordination, swaying gait and moderate to severe hind limb weakness. Despite having normal appetites, these animals developed hind limb paresis and were eventually unable to stand. They either died or were euthanized, as damage is permanent and there is no treatment. (Source: ScienceDaily Hea...

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Nicotine poisoning from an asparagus look-alike

Tue, 30 Dec 2014 01:15:14 +0100

This report, from the University of Wisconsin in Madison, describes two patients who developed symptoms consistent with nicotinic poisoning after ingesting foraged B australis. Patient 1 was an 85-year-old woman developed nausea, vomiting, diarrhea, abdominal distress, and dizziness within 15 minutes of ingesting what she took to be “wild asparagus.” Patient 2, her 48-year-old daughter, developed similar symptoms plus vertigo within a similar time frame after ingestion. Each patient was described as having severe truncal ataxia and was not able to stand unassisted. The patients were treated with fluids, antiemetics, meclizine, and lorazepam, admitted overnight and discharge the next morning. A sample of the “wild asparagus” was identified as B australis by the U...



Ataxia - Akbar U, Ashizawa T.

Thu, 04 Dec 2014 15:15:39 +0100

Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer. G... (Source: SafetyLit: All (Unduplicated))



Converting Skin Cells into Sensory Neurons that Detect Body Sensations

Mon, 24 Nov 2014 19:27:18 +0100

A team led by scientists from The Scripps Research Institute (TSRI) has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children. (Source: Disabled World)



Pain and itch in a dish

Mon, 24 Nov 2014 05:00:00 +0100

(Scripps Research Institute) A team led by scientists from The Scripps Research Institute has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children. (Source: EurekAlert! - Medicine and Health)



Non-profit Foundation Fighting Friedreich’s Ataxia Names Catrike Partner of the Year

Sun, 09 Nov 2014 13:43:03 +0100

A tricycle design and manufacturing company, Catrike, has been dramatically improving the lives of individuals affected by the rare and genetic disease, Friedreich’s Ataxia (FA). Recognizing the company's many contributions to the FA community, Catrike has been honored as Partner of the Year by the Friedreich’s Ataxia Research Alliance. (Source: Disabled World)

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Cerebellar Ataxia Diagnosis Aided by Exome SequencingCerebellar Ataxia Diagnosis Aided by Exome Sequencing

Thu, 09 Oct 2014 06:19:14 +0100

Clinical exome sequencing is proving to be highly useful in the genetic diagnosis of adult and sporadic-onset cerebellar ataxia and should be considered routine in the evaluation of such patients. Medscape Medical News (Source: Medscape Neurology and Neurosurgery Headlines)



Event Gathers World-Renowned Researchers and Community Leaders to Find...

Thu, 04 Sep 2014 06:05:08 +0100

Scientists, physicians, patients, families, and community leaders from around the world will join together in Tampa Bay from September 4-6 for the Friedreich’s Ataxia Research Alliance’s (FARA) sixth...(PRWeb September 02, 2014)Read the full story at http://www.prweb.com/releases/2014/09/prweb12139752.htm (Source: PRWeb: Medical Pharmaceuticals)



Methoxetamine: a ketamine analog that is NOT bladder friendly

Wed, 20 Aug 2014 04:45:29 +0100

3.5 out of 5 stars Methoxetamine — a novel recreational drug with potent hallucinogenic properties. Zawilska JB. Toxicol Lett 2014 Aug 13. pii: S0378-4274(14)01298-3. doi: 10.1016/j.toxlet.2014.08.011. [Epub ahead of print] Abstract Methoxetamine (MXE) is a structural analog of ketamine, with effects that are similar but more intense and longer-lasting. Street names include: MXE Mexxy  M-ket MEX Kmax Special M MA “Legal ketamine” Minx Jipper Roflcoptr Since chronic exposure to ketamine is known to cause ulcerative cystitis, MXE is sometimes touted as “bladder friendly.” However, lack of clinical reports of GU tract injury associated with MXE most likely just reflects our limited experience with this drug. Recent animal studies have shown that mice exposed to ...



Training balance with opto-kinetic stimuli in the home: a randomized controlled feasibility study in people with pure cerebellar disease - Bunn LM, Marsden JF, Giunti P, Day BL.

Fri, 08 Aug 2014 01:01:31 +0100

OBJECTIVE: To investigate the feasibility of a randomized controlled trial of a home-based balance intervention for people with cerebellar ataxia. DESIGN: A randomized controlled trial design. SETTING: Intervention and assessment took place in the ... (Source: SafetyLit: All (Unduplicated))



Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome

Tue, 05 Aug 2014 18:08:23 +0100

http://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome (Source: NLM General Announcements)

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What Is Ataxia and What Causes It?

Tue, 05 Aug 2014 00:00:00 +0100

Ataxia in common usage means unsteady gait. More ... (Source: About.com Bipolar Disorder)



Paralytic shellfish poisoning: a case series - Hurley W, Wolterstorff C, MacDonald R, Schultz D.

Sat, 26 Jul 2014 15:06:21 +0100

We describe a case series of seven patients presenting to an emergency department with symptoms of paralytic shellfish poisoning. They developed varying degrees of nausea, vomiting, diarrhea, weakness, ataxia and paresthesias after eating mussels harvested... (Source: SafetyLit: All (Unduplicated))



The human δ2 glutamate receptor gene is not mutated in spinocerebellar ataxia patients

Thu, 17 Jul 2014 04:00:00 +0100

(Neural Regeneration Research) Recent studies have demonstrated that glutamate receptor δ2 gene (GRID2) is closely related to cerebellar functions in mice. This gene is predominantly located in postsynaptic dendrites of parallel fiber-Purkinje cell synapses in the cerebellum and contains potential fragile sites within large introns. These fragile sites easily develop spontaneous mutation, which leads to Purkinje cell death, contributing to the manifestation of spinocerebellar ataxia in mice. (Source: EurekAlert! - Medicine and Health)



Mussel Beach: Paralytic Shellfish Poisoning

Fri, 11 Jul 2014 23:06:42 +0100

3 out of 5 stars Paralytic Shellfish Poisoning: A Case Series. Hurley W et al. West J Emerg Med 2014 Jul;15:378-381. Full Text Paralytic shellfish poisoning (PSP)is caused by saxitoxin,  an alkaloid produced by certain marine dinoflagellates and released during algae blooms that produce a so-called “red tide.” (Actually, the water can be various colors, or even clear, during these blooms.) The toxin is then taken up and concentrated by filter-feeding mollusks, including oysters, clams and mussels. Like tetrodotoxin, saxitoxin is a sodium-channel blocker. It causes mostly neurotoxicity and gastrointestinal symptoms. This case series, from the Washington Poison Control Center, describes 7 patients who presented to hospital with symptoms of PSP after consuming mussels harveste...



Eat More Gluten: The Diet Fad Must Die

Mon, 23 Jun 2014 22:30:28 +0100

If you’ve got a hankering to make some money, now might be a good time to trademark a brand name for gluten-free salt. If they’re all taken, try gluten-free sugar or gluten-free water. And if they’re gone too, well, there’s still gluten-free shoes. MoreWhy Organic is the Right Choice for ParentsKraft Recalls Velveeta Cheese Because It Doesn’t Have Enough PreservativesBloody Rampage: Where Will Iraq's Militants Strike Next? NBC NewsJeremy Meeks, 'Hot Convict,' Used To Look Pretty Different Huffington PostHappy Marsiversary! Curiosity Rover Snaps Selfie NBC NewsWhat’s that? None of those things had gluten to begin with? Well neither did Chobani yogurt or Green Giant vegetables or a whole lot of other foods that have nothing at all to do with wheat or rye o...

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Gene critical for development of brain motor center found

Sun, 22 Jun 2014 04:54:01 +0100

A research team describes a gene called Snf2h, which is found in our brain's neural stem cells and functions as a master regulator. When they removed this gene early on in a mouse's development, its cerebellum only grew to one-third the normal size. It also had difficulty walking, balancing and coordinating its movements, something called cerebellar ataxia that is a component of many neurodegenerative diseases. (Source: ScienceDaily Headlines)



Researchers find gene critical for development of brain motor center

Fri, 20 Jun 2014 04:00:00 +0100

(Ottawa Hospital Research Institute) In Nature Communications, an Ottawa-led team describes a gene called Snf2h, which is found in our brain's neural stem cells and functions as a master regulator. When they removed this gene early on in a mouse's development, its cerebellum only grew to one-third the normal size. It also had difficulty walking, balancing and coordinating its movements, something called cerebellar ataxia that is a component of many neurodegenerative diseases. (Source: EurekAlert! - Medicine and Health)



Daily vitamin B3 intake could help treat degenerative childhood disease

Thu, 22 May 2014 05:26:25 +0100

(NaturalNews) Vitamin B3 may be a miracle treatment for the genetic childhood disease Friedreich's ataxia -- which currently has no treatment or cure -- according to a study conducted by researchers from Imperial College London, University College London and the National Institute... (Source: NaturalNews.com)



Case series: pediatric coral snake bites

Fri, 09 May 2014 23:23:51 +0100

Eastern coral snake (Micrurus fulvisu) 3 out of 5 stars Coral Snake Bites and Envenomation in Children: A Case Series. Sasaki J et al. Pediatr Emer Care 2014 Apr;30:262-265. Abstract Of the approximately 4700 native venomous snake bites reported to U.S. poison centers each year, about 98% involve pit vipers (Crotalinae). The other 2% result from encounters with coral snakes (Elapidae). In contrast to bites from pit vipers, those from coral snakes typically cause minimal local tissue effects. However, coral snake envenomation can produce neurotoxicity — with delayed onset of up to 12 hours — and progress (rarely) to respiratory paralysis and death. Of the 3 native Elapidae in the United States, the Texas and Arizona coral snakes are only mildly toxic. The Eastern Coral snake (Micrurus ...



First case report of toxicity from ingestion of e-cigarette nicotine liquid

Thu, 08 May 2014 00:47:49 +0100

3 out of 5 stars Nicotine Poisoning in an Infant. Bassett RA et al. N Engl J Med 2014 May 7 [Epub before print] Full Text This short “letter to the editor” is, to my knowledge, the first reported case of toxicity from ingestion of e-cigarette nicotine liquid. A 10-month-old male ingested an unknown amount of nicotine-containing liquid compounded at a local “vape” shop. The liquid was labelled as containing 1.8% nicotine (18 mg/ml) as well as glycerin, propylene glycol, and oil of wintergreen (methyl salicylate). the child presented with vomiting, tachycardia, “grunting” respirations, and truncal ataxia. Symptoms resolved by 6 hours after ingestion without specific treatment. The serum salicylate level was “normal.” If, as reported in some so...

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Nicotinamide shows mixed results in patients with Friedreich ataxia

Sat, 03 May 2014 00:00:00 +0100

Read the full story on MD Consult: Nicotinamide shows mixed results in patients with Friedreich ataxia (Source: MD Consult: News: Top Stories)



'We Believe' National Social Media Campaign Sheds Light on...

Fri, 02 May 2014 15:10:07 +0100

'We Believe' is a viral social media campaign that sheds light on Friedreich's Ataxia, a rare genetic disease for which there is currently no treatment or cure. May 17th is FA Awareness...(PRWeb May 01, 2014)Read the full story at http://www.prweb.com/releases/2014/05/prweb11816434.htm (Source: PRWeb: Medical Pharmaceuticals)