Genetic sequencing unravels rare disease mysteries
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 luc...
Source: UCLA Newsroom: Health Sciences - July 18, 2017 Category: Universities & Medical Training Source Type: news
David Geffen School of Medicine at UCLA names winner of Switzer Prize for research excellence
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 dis...
Source: UCLA Newsroom: Health Sciences - June 19, 2017 Category: Universities & Medical Training Source Type: news
Hope for Patients with Friedreich's Ataxia and Related Diseases - Neurodegenerative Disease Mechanism and Potential Drug Identified
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)
Source: Disabled World - June 8, 2017 Category: Disability Tags: Medical Research Source Type: news
Hemp seed oil may possibly (but not probably) cause cannabinoid poisoning
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 p...
Source: The Poison Review - May 10, 2017 Category: Toxicology Authors: Leon Gussow Tags: Medical cannabinoid cannabis hemp seed oil pediatric subacute poisoning Source Type: news
Treatment shows promise in models of fatal neurological disorders
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))
Source: NIH Research Matters from the National Institutes of Health (NIH) - April 25, 2017 Category: Consumer Health News Source Type: news
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
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&nda...
Source: Signal Transduction Knowledge Environment - April 25, 2017 Category: Science Authors: Stewart-Ornstein, J., Lahav, G. Tags: STKE Research Articles Source Type: news
Gene silencing shows promise for treating two fatal neurological disorders
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)
Source: ScienceDaily Headlines - April 12, 2017 Category: Science Source Type: news
Gene silencing shows promise for treating two fatal neurological disorders
NIH-funded preclinical studies suggest designer drug may treat ALS and spinocerebellar ataxia 2. (Source: National Institutes of Health (NIH) News Releases)
Source: National Institutes of Health (NIH) News Releases - April 12, 2017 Category: American Health Source Type: news
What Are the Clinical Symptoms Associated with Friedreich Ataxia?
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 ...
Source: PediatricEducation.org - April 10, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Geelong mother opens up about rare inherited disease
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)
Source: the Mail online | Health - March 2, 2017 Category: Consumer Health News Source Type: news
Borna Disease Virus, Schizophrenia, Bipolar Disorder & Depression
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. ...
Source: Psych Central - February 2, 2017 Category: Psychiatry Authors: John M. Grohol, Psy.D. Tags: Bipolar Depression Disorders General Schizophrenia BDV behavioral symptoms Bipolar Disorder Borna disease virus borna virus Infectious disease Source Type: news
Fatal self-envenomation in a brown tree snake, Boiga irregularis, from South-east Queensland: a case report - Hill AG, McKillop L.
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)
Source: SafetyLit - December 26, 2016 Category: Global & Universal Tags: Non-Human Animals and Insects Source Type: news
SfN: Ballet Improves Ataxia in MS (CME/CE)
(MedPage Today) -- Dance program improved movement in pilot study (Source: MedPage Today Meeting Coverage)
Source: MedPage Today Meeting Coverage - November 16, 2016 Category: Journals (General) Source Type: news
How Long Do Concussive Symptoms Last?
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:...
Source: PediatricEducation.org - October 31, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Unilateral Scleral Jaundice in an Elderly Man: An Odd Finding
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)
Source: ConsultantLive - September 8, 2016 Category: Internal Medicine Authors: Ali Ahmadizadeh, MD Pharlin Noel, PA-C Source Type: news
