Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Query: UMLS:C0004352 (
autism
)
32,579
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This review on platelet research focuses on defects of adhesion, cytoskeletal organisation, signal transduction and secretion. Platelet defects can be studied by different laboratory platelet functional assays and morphological studies. Easy bruising or a suspected platelet-based bleeding disorder is of course the most obvious reason to test the platelet function in a patient. However, nowadays platelet research also contributes to our understanding of human pathology in other disciplines such as neurology, nephrology, endocrinology and metabolic diseases. Apart from a discussion on classical thrombopathies, this review will also deal with the less commonly known relation between platelet research and disorders with a broader clinical phenotype. Classical thrombopathies involve disorders of platelet adhesion such as Glanzmann thrombastenia and
Bernard-Soulier syndrome
, defective G protein signalling diseases with impaired phospholipase C activation, and abnormal platelet granule secretion disorders such as gray platelet disorder and delta-storage pool disease. Other clinical symptoms besides a bleeding tendency have been described in MYH9-related disorders and Duchenne muscular dystrophy due to adhesion defects, and also in disorders of impaired Gs signalling, in Hermansky Pudlack disease and Chediak Higashi disease with abnormal secretion. Finally, platelet research can also be used to unravel novel mechanisms involved in many neurological disorders such as depression and
autism
with only a subclinical platelet defect.
...
PMID:What's new in using platelet research? To unravel thrombopathies and other human disorders. 1761 1
Individuals with
autism
are at heightened risk for experiencing suicidality compared to those without
autism
. Despite this, it is unknown what tools are used to assess suicide risk in research and clinical practice among children and youth with
autism
. This systematic review examined tools commonly used to measure suicidality in children and youth with and without
autism
spectrum disorder. Four databases were searched. We identified five tools (C-SSRS, PSS, SITBI, SIQ-JR,
BSS
) commonly used with youth in the general population; however, we did not identify any tools that were commonly used autistic children and youth. Results highlight the lack of available tools utilized to measure suicidality in autistic children and youth. We propose a framework to facilitate research to fill this gap.
J
Autism
Dev Disord 2020 Oct
PMID:Suicidality Among Children and Youth With and Without Autism Spectrum Disorder: A Systematic Review of Existing Risk Assessment Tools. 3210 Feb 37