De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of individuals who have neurodevelopmental disorders (NDDs); this indicates that additional causes need to be elucidated. We compared the frequency of de novo variants in patient-parent trios with (n = 2,030) versus without (n = 2,755) NDDs. We identified de novo variants in TAOK1 (thousand and one [TAO] amino acid kinase 1), which encodes the serine/threonine-protein kinase TAO1, in three individuals with NDDs but not in persons who did not have NDDs.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research

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ConclusionDifferent forms of discrimination are associated with PEs in the general population. As discrimination is common at the societal level, this highlights the importance of public policy and evidence-based interventions to reduce discrimination and improve population mental health.
Source: European Psychiatry - Category: Psychiatry Source Type: research
Conclusions: The distinctive retinal phenotype, together with the neurologic and cutaneous symptoms, allows the ophthalmologist to reliably diagnose SLS. Although no effective treatment exists for the ocular symptoms, emerging insight into the pathogenic mechanisms at play in the eye promises to bring effective therapy for SLS in the future. PMID: 31512987 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Publication date: November 2019Source: Epilepsy &Behavior, Volume 100, Part AAuthor(s): Florentina M.E. Pinckaers, Mebeline E. Boon, Marian H.J.M. MajoieAbstractPurposeWhile levetiracetam (LEV) usage is a known risk factor for psychosis in epilepsy, the modulating effect of certain patient and treatment characteristics on the risk of psychosis has yet to be fully elucidated.MethodsIn our tertiary epilepsy center, 84 patients with psychotic symptoms during LEV usage and 100 controls without psychotic symptoms during LEV usage were selected. Patient records were reviewed including demographics, medical history, antiepile...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
AbstractPosterior circulation strokes affect the vertebrobasilar arterial system, account for about 20 –25% of all ischemic strokes, and are a significant cause of patient disability and mortality. Diagnosis can be challenging; clinical presentation and common pitfalls facing posterior circulation stroke have been discussed elsewhere. In the first part of the review, we focus on the imaging, discus sing the information that can be gathered through a correct selection and interpretation of different possible studies helping to achieve an early diagnosis and to select the best medical treatment. In the second part of t...
Source: Neurological Sciences - Category: Neurology Source Type: research
Racism hurts children, in real and fundamental ways. It hurts not just their health, but their chances for a good, successful life. That’s the bottom line message of a new policy statement from the American Academy of Pediatrics (AAP). It is a call to action for all of us. If we care about the health and future of all of our children, it says, we need to take real steps to end racism — and to help and support those who are affected by it. Racism informs our actions when we structure opportunities for and assign value to people based on our interpretation of how they look. Biologically we are truly just one race...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Children's Health Health care disparities Mental Health Parenting Stress Source Type: blogs
CONCLUSION: A large percentage of the US Medicare cohort suffers from symptomatic sciatica. Our study identified a 25% prevalence in the Medicare cohort. In addition, sciatica is associated with an increased incidence of comorbid medical conditions and poor health-related quality of life. LEVEL OF EVIDENCE: Level III STUDY DESIGN:: Observational-Cohort Study. PMID: 31517882 [PubMed - as supplied by publisher]
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Publication date: Available online 13 September 2019Source: Preventive Veterinary MedicineAuthor(s): José A. Bran, Joao H.C. Costa, Marina A.G. von Keyserlingk, Maria José HötzelAbstractThe aim of this cross-sectional study was to investigate factors associated with lameness in dairy cows on intensive farms in southern Brazil. Farms (freestall: n = 38; compost-bedded pack: n = 12) having on average 274 (range: 41–901) lactating cows were visited once in 2016 (March to October). Potential risk factors for lameness at the cow, pen and herd levels were investigated through ...
Source: Preventive Veterinary Medicine - Category: Veterinary Research Source Type: research
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
Authors: Alqahtani S, Nehme Z, Williams B, Bernard S, Smith K Abstract Aim: To describe temporal trends in the incidence, characteristics and outcomes of hanging-related out-of-hospital cardiac arrest (OHCA). Method: A retrospective study of all hanging-related OHCA in Victoria, Australia, between 2000 and 2017 was conducted. Trends in incidence, characteristics and outcomes were assessed using linear regression and a non-parametric test for trend, as appropriate. Predictors of survival to hospital discharge were identified using multivariable logistic regression. Results: Between 2000 and 2017, emergency medical s...
Source: Prehospital Emergency Care - Category: Endocrinology Tags: Prehosp Emerg Care Source Type: research
Conclusion: Greater physician concentration of services across MA insurers was associated with a higher quality of care overall and especially among vulnerable enrollees.
Source: Medical Care - Category: Health Management Tags: Original Articles Source Type: research
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