The Broadening Clinical Spectrum Associated with ATP1A3 Mutations (P5.397)

Conclusions: This cohort illustrates the expanding phenotypic and genotypic variability of ATP1A3 mutations even within the RDP diagnosis suggesting that systematic testing of a wider clinical spectrum of patients is warranted.Disclosure: Dr. Meijer has nothing to disclose. Dr. Lubarr has nothing to disclose. Dr. Greene has nothing to disclose. Dr. Frucht has received personal compensation for activities with Merz Pharmaceuticals as a consultant. Dr. Raymond has nothing to disclose. Dr. Severt has received personal compensation for activities with Teva, Allergan, Impax, and Lundbeck. Dr. Shanker has nothing to disclose. Dr. Sachdev has nothing to disclose. Dr. Bressman has nothing to disclose. Dr. Ozelius has nothing to disclose. Dr. Saunders-Pullman has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxia and Dystonia Source Type: research

Related Links:

This article reviews the history of the U.S. Supreme Court's rulings on intellectual disability in capital cases, highlighting the difficulty states have had in devising a workable definition that meets constitutional standards. The Court's decisions in Penry v. Lynaugh (1989), Atkins v. Virginia (2002), and Hall v. Florida (2014) are briefly summarized. Next, the Texas Court of Criminal Appeals' ruling in Ex parte Briseno (2004) is discussed as a prelude to the Supreme Court's decision in Moore v. Texas I (2017). On remand, the Texas Court of Criminal Appeals interpreted the Supreme Court's Moore I ruling in a manner that...
Source: Journal of the American Academy of Psychiatry and the Law - Category: Medical Law Tags: J Am Acad Psychiatry Law Source Type: research
Source: Journal of Computational and Theoretical Nanoscience - Category: Nanotechnology Authors: Tags: research-article Source Type: research
Authors: Moon JR, Lee CK, Hong SN, Im JP, Ye BD, Cha JM, Jung SA, Lee KM, Park DI, Jeen YT, Park YS, Cheon JH, Kim H, Seo B, Kim Y, Kim HJ, MOSAIK study group of the Korean Association for the Study of Intestinal Diseases (KASID) Abstract Background/Aims: Limited data are available regarding psychosocial distress at the time of diagnosis of ulcerative colitis (UC). We investigated the psychosocial burden and factors related to poor health-related quality of life (HRQL) among patients newly diagnosed with moderate-to-severe UC who were affiliated with the nationwide prospective cohort study. Methods: Within the ...
Source: Gut and Liver - Category: Gastroenterology Tags: Gut Liver Source Type: research
The goal of this proposed initiative is to identify feasible approaches to telehealth-supplied suicide prevention practices, and how this consultation affects patient suicide-related outcomes that include intentional and non-intentional injuries and mortality, and suicide related-health utilization patterns.
Source: National Institute of Mental Health - Category: Psychiatry Authors: Source Type: news
Authors: Hosoda T, Uehara Y, Naito T Abstract Patients with HIV infection represent a high-risk group for medication overdose because of the high frequency of complicating psychiatric disorders. Raltegravir is well-known for its low frequency of adverse effects. We herein report a 42-year-old Japanese man with HIV infection who was hospitalized 6 hours after overdosing with 24,000 mg of raltegravir in a suicide attempt. No serious adverse events occurred, although the plasma concentration of raltegravir at 18 hours after the overdose was 79,871.1 ng/mL. Raltegravir may be well-indicated for HIV patients at risk of ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
In conclusion, this study determined that the anti-depression effect of moxibustion involves improved Trp transport and metabolism. The therapeutic duration benefits antidepressant effects, but the complex influence of the therapeutic extent on moxibustion efficacy requires further studies. PMID: 31534466 [PubMed]
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Publication date: November 2019Source: The Veterinary Journal, Volume 253Author(s): T. Gagliardo, G. Gandini, A. Gallucci, M. Menchetti, E. Bianchi, M.E. Turba, A. Cauduro, D.S. Corlazzoli, S. Gianni, M. Baroni, M. Bernardini, F. GentiliniAbstractEpilepsy is the most common chronic neurological disorder in dogs. Approximately 20–30% of dogs do not achieve satisfactory seizure control with two or more anti-epileptic drugs at appropriate dosages. This condition, defined as refractory epilepsy, is a multifactorial condition involving both acquired and genetic factors. The P glycoprotein might play and important role in ...
Source: The Veterinary Journal - Category: Veterinary Research Source Type: research
Publication date: October 2019Source: American Journal of Preventive Medicine, Volume 57, Issue 4Author(s):
Source: American Journal of Preventive Medicine - Category: International Medicine & Public Health Source Type: research
Publication date: Available online 19 September 2019Source: The American Journal of SurgeryAuthor(s): Caitlin Robinson, Ryan Lawless, Ben L. Zarzaur, Lava Timsina, David V. Feliciano, Jamie J. ColemanAbstractIntroductionBurnout and depression is higher in trauma surgeons as compared to surgeons in other specialties. Clinical practice for many acute care surgeons (ACS) includes in-house call (IHC). The goal of this study was to quantitate physiologic stress among ACS who take IHC.MethodsACS with IHC responsibilities from two Level I trauma centers were studied. Participants wore a fitness and heart rate variability (HRV) de...
Source: The American Journal of Surgery - Category: Surgery Source Type: research
Conclusions: These findings indicate that disability and cognition seem to improve over time after s-TBI and appear to be relatively stable from 1 year to 7 years. Since cognitive function on some of the BNIS subscales was associated with outcome on the GOSE, these results indicate that both screening and follow-up of cognitive function could be of importance for the rehabilitation of persons with s-TBI. PMID: 31534558 [PubMed - in process]
Source: Behavioural Neurology - Category: Neurology Authors: Tags: Behav Neurol Source Type: research
More News: ADHD | Allergy | Ataxia | Brain | Depression | Disability | Dystonia | Epilepsy | Genetics | Neurology