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Bruxism Associated with Restless Limbs Syndrome (RLS): A Dopamine Responsive Movement Disorder (P02.063)
CONCLUSIONS: These data support a strong association between RLS and bruxism, both movement disorders and parasomnias, and suggests that bruxism, in this population, may respond to treatment with DAs. Although retrospective, non-controlled, and unblinded, this study should enhance disease appreciation and encourage a blinded and placebo-controlled trial of DA for bruxism associated with RLS. Finally, the data suggest that bruxism may be a manifestation of RLS and is a dopamine-responsive movement disorder that should be well-known to, and treated by, neurologists in the future.Disclosure: Dr. Dickoff has received personal ...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Dickoff, D. Tags: P02 Restless Legs Syndrome, Tourette Syndrome, and Dystonia Source Type: research
Child Neurology: Diagnosis of Lambert-Eaton myasthenic syndrome in children
Conclusions:
There exists a need for consistent clinical criteria and electrodiagnostic testing for prompt diagnosis of LEMS in children. Prompt identification of LEMS will alert the physician to search for malignancy or another immune-mediated process.
Source: Neurology - May 20, 2013 Category: Neurology Authors: Morgan-Followell, B., Reyes, E. d. l. Tags: Lambert-Eaton syndrome, Paraneoplastic syndrome, All Pediatric, All clinical neurophysiology RESIDENT AND FELLOW SECTION Source Type: research
Calorie Restriction Attenuates Cardiac Remodeling and Diastolic Dysfunction in a Rat Model of Metabolic Syndrome Metabolic Syndrome
Calorie restriction (CR) can modulate the features of obesity-related metabolic and cardiovascular diseases. We have recently characterized DahlS.Z-Leprfa/Leprfa (DS/obese) rats, derived from a cross between Dahl salt-sensitive and Zucker rats, as a new animal model of metabolic syndrome. DS/obese rats develop hypertension and manifest left ventricular remodeling and diastolic dysfunction, as well as increased cardiac oxidative stress and inflammation. We have now investigated the effects of CR on cardiac pathophysiology in DS/obese rats. DS/obese rats were fed either normal laboratory chow ad libitum or a calorie-restrict...
Source: Hypertension - October 16, 2013 Category: Cardiology Authors: Takatsu, M., Nakashima, C., Takahashi, K., Murase, T., Hattori, T., Ito, H., Murohara, T., Nagata, K. Tags: Metabolic Syndrome Source Type: research
Helping People with Asperger’s Syndrome or Autism Find Work
An interview with an expert on employing people with Asperger's Syndrome or high-functioning autism.read more
Source: Psychology Today Work Center - May 9, 2014 Category: Psychiatry & Psychology Authors: Marty Nemko, Ph.D. Tags: Autism Work asperger syndrome ' s syndrome employing asperger Source Type: news
Lambert-Eaton syndrome IgG inhibits transmitter release via P/Q Ca2+ channels
Conclusions:
These data provide direct evidence that LEMS IgG inhibits neurotransmitter release by acting on P/Q-type VGCCs.
Source: Neurology - February 9, 2015 Category: Neurology Authors: Spillane, J., Ermolyuk, Y., Cano-Jaimez, M., Lang, B., Vincent, A., Volynski, K. E., Kullmann, D. M. Tags: Autoimmune diseases, Lambert-Eaton syndrome, Paraneoplastic syndrome ARTICLE Source Type: research
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Kate Pope, Katsuo Sugita, Susan M. White & Ian J. Wilson
Source: Genetics in Medicine - April 28, 2016 Category: Genetics & Stem Cells Authors: Brian T. WilsonZornitza StarkRuth E. SuttonSumita DandaAlka V. EkboteSolaf M. ElsayedLouise GibsonJudith A. GoodshipAndrew P. JacksonWee Teik KengMary D. KingEmma McCannToshino MotojimaJennifer E. MurrayTaku OmataDaniela PilzKate PopeKatsuo SugitaSusan M. Tags: cerebro-oculofacioskeletal syndrome Cockayne syndrome CSA (ERCC8) CSB (ERCC6) Source Type: research
Long-term survival in paraneoplastic Lambert-Eaton myasthenic syndrome
Conclusions:
Improved SCLC tumor survival seen in patients with LEMS and SCLC may not be due solely to lead time bias, given that survival advantage remains after allowing for other prognostic factors and that the same degree of survival advantage is not seen in patients with paraneoplastic neurologic syndromes other than LEMS presenting before SCLC diagnosis.
Source: Neurology - April 3, 2017 Category: Neurology Authors: Maddison, P., Gozzard, P., Grainge, M. J., Lang, B. Tags: Lambert-Eaton syndrome, Paraneoplastic syndrome ARTICLE Source Type: research
Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome
Discussion
We assessed the longitudinal change in CS-DS scores in adults with DS aged 36 years and over across two time points, ~1.5–2 years apart. Total scores showed a significant decrease over this time, with scores in the executive function domain also showing a significant decrease and scores in the memory domain trending to a significant decrease. Change in total scores trended to be significantly greater in those with noticeable cognitive decline compared to those without noticeable cognitive decline at the second time point, with scores in the executive function domain only showing a significantly ...
Source: Frontiers in Psychiatry - April 15, 2019 Category: Psychiatry Source Type: research
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA.
Ethics Statement
This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital.
Informed Consent
The authors declare that written informed consent was obtained from the p...
Source: Frontiers in Oncology - April 11, 2019 Category: Cancer & Oncology Source Type: research
Happy is the Word on World Down Syndrome Day!
"Happy" is the word of the day because today is World Down Syndrome Day. Jérôme Lejeune, a French geneticist, was the man who discovered the cause of Down Syndrome. Before his discovery, Down Syndrome brought shame, as Mark Bradford at the Jérôme Lejeune Foundation explains:Thank you, Professor Lejeune, for what you did for my father and my mother. Because of you, I am proud of myself. This brief and unplanned eulogy was given at Jérôme Lejeunes funeral in 1994 by his patient, Bruno, whose karyotype was one of the first to reveal, in 1958, that an extra copy of the 21st chromosome caused Down sy...
Source: Mary Meets Dolly - March 21, 2014 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Why We Should All Celebrate World Down Syndrome Day
March 21st is internationally recognized as World Down Syndrome Day. Just like typical people, individuals with Down syndrome have two copies of each of their 23 chromosomes but they have third copy of chromosome 21, a genetic condition known as trisomy 21, hence the celebration on March 21st or 3-21. While it is important to celebrate all the things that people with Down syndrome can do and how similar they are to others, I would argue it is equally important to acknowledge the ongoing fight against discrimination that their differences evoke. If we consider that discrimination leveled against women or African Americans ...
Source: Science - The Huffington Post - March 21, 2016 Category: Science Source Type: news
Restoring a key hormone could help people with Down syndrome
Discussions of treatment
can elicit mixed feelings
in the Down syndrome community, however, especially when it’s framed as a disease that needs to be “cured,” says Cathleen Small, a director of family services and medical outreach for the nonprofit Down Syndrome Connection and mother of a child with Down syndrome. But Small says she’d welcome a treatment that could make her 10-year-old son’s life easier. Improving someone’s memory or communication skills isn’t likely to change their personality, she says, just improve their quality of life. “Where it gets problematic is when people talk about elimina...
Source: Science of Aging Knowledge Environment - September 1, 2022 Category: Geriatrics Source Type: research
Down's syndrome cells 'fixed' in first step towards chromosome therapy
Researchers shut down the extra chromosome responsible for Down's syndrome, paving the way for future treatmentsScientists have corrected the genetic fault that causes Down's syndrome – albeit in isolated cells – raising the prospect of a radical therapy for the disorder.In an elegant series of experiments, US researchers took cells from people with DS and silenced the extra chromosome that causes the condition. A treatment based on the work remains a distant hope, but scientists in the field said the feat was the first major step towards a "chromosome therapy" for Down's syndrome."This is a real technical breakthrough...
Source: Guardian Unlimited Science - July 17, 2013 Category: Science Authors: Ian Sample Tags: The Guardian Genetics Biology World news Health Medical research Human biology Society UK news Down's syndrome Science Source Type: news
Methotrexate-associated toxicity in children with Down syndrome and acute lymphoblastic leukemia during consolidation therapy with high dose methotrexate according to ALL-BFM treatment regimen.
In conclusion, dose reduction in the 1st methotrexate course reduced severe toxicities without increasing the risk of relapse.
PMID: 31371414 [PubMed - as supplied by publisher]
Source: Haematologica - July 31, 2019 Category: Hematology Authors: Kroll M, Kaupat-Bleckmann K, Möricke A, Alten J, Schewe DM, Stanulla M, Zimmermann M, Schrappe M, Cario G Tags: Haematologica Source Type: research
Evolution of neuroinflammation across the lifespan of individuals with Down syndrome
AbstractEpidemiological and experimental studies suggest that a disease-aggravating neuroinflammatory process is present at preclinical stages of Alzheimer ’s disease. Given that individuals with Down syndrome are at increased genetic risk of Alzheimer’s disease and therefore develop the spectrum of Alzheimer’s neuropathology in a uniform manner, they constitute an important population to study the evolution of neuroinflammation across the Alzhei mer’s continuum. Therefore, in this cross-sectional study, we characterized the brain inflammatory profile across the lifespan of individuals with Down syndrome. Microglia...
Source: Brain - November 18, 2020 Category: Neurology Source Type: research
