Neurobiological perspective of 22q11.2 deletion syndrome

Publication date: Available online 5 August 2019Source: The Lancet PsychiatryAuthor(s): Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van AmelsvoortSummary22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial variability of the neuropsychiatric phenotype despite the shared underlying deletion in this genetic model. Factors that might explain this variability include genetic background effects, additional rare pathogenic variants, and potential regulatory functions of some genes in the 22q11.2 deletion region. These factors might also be relevant to the pathophysiology of these neuropsychiatric disorders in the general population. We review studies that might provide insight into pathophysiological mechanisms underlying the expression of neuropsychiatric disorders in 22q11.2 deletion syndrome, and potential implications for these common disorders in the general (non-deleted) population. The recurrent hemizygous 22q11.2 deletion, associated with 22q11.2 deletion syndrome, has attracted attention as a genetic model for common neuropsychiatric disorders because of it...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research

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Conclusion: Moderate quality evidence suggests that OMTh is effective for CNCP patients. There was a significant association between visceral OMTh and reduced pain severity and disability. More robust, high-quality randomized controlled trials with larger sample sizes are required to further explore the effectiveness of the OMTh in the management of CNCP. PMID: 32946545 [PubMed - as supplied by publisher]
Source: Journal of the American Osteopathic Association - Category: Complementary Medicine Tags: J Am Osteopath Assoc Source Type: research
Conclusion: The axonal degeneration rate is faster in RRMS patients in the first years of the disease than in later years. In addition, axonal degeneration occurs independently of inflammatory activity. Axonal degeneration is correlated with disability progression, but not with inflammatory findings, such as clinical episodes and MRI activity.Eur Neurol
Source: European Neurology - Category: Neurology Source Type: research
Authors: Brignardello-Petersen R PMID: 32948288 [PubMed - as supplied by publisher]
Source: Journal of the American Dental Association - Category: Dentistry Tags: J Am Dent Assoc Source Type: research
In conclusion, the results of the present study suggested that the upregulation of miR‑15a may inhibit cell apoptosis and inflammation in TLE by targeting GFAP, thus providing a potential therapeutic target for the treatment of TLE. PMID: 32945401 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Propofol protects against oxygen/glucose deprivation‑induced cell injury via gap junction inhibition in astrocytes. Mol Med Rep. 2020 Jul 28;: Authors: Fan Y, Zhu S, Wang J, Zhao Y, Wang X Abstract Stroke is one of the leading causes of mortality and disability worldwide with limited clinical therapies available. The present study isolated primary astrocytes from the brains of rats and treated them with oxygen‑glucose deprivation and re‑oxygenation (OGD/R) to mimic hypoxia/reperfusion (H/R) injury in vitro to investigate stroke. It was revealed that propofol (2,6‑diisopropylphenol), an int...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Intranasal administration of Cytoglobin modifies human umbilical cord‑derived mesenchymal stem cells and improves hypoxic‑ischemia brain damage in neonatal rats by modulating p38 MAPK signaling‑mediated apoptosis. Mol Med Rep. 2020 Aug 19;: Authors: Yang H, Tian S, Xie L, Chen Y, Ma L Abstract Neonatal hypoxic‑ischemic brain damage (HIBD) is a common clinical syndrome in newborns. Hypothermia is the only approved therapy for the clinical treatment; however, the therapeutic window of hypothermia is confined to 6 h after birth and even then,>40% of the infants either die or survive with v...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
This study investigated astrocyte activity in cerebral ischemia, and identified that ischemic brain injuries could trigger RIP-dependent astrocyte necroptosis. The depletion of NDRG2 was found to accelerate permanent middle cerebral artery occlusion-induced necroptosis in the brain tissue of Ndrg2-/- mice, indicating that NDRG2 may act as a neuroprotector during cerebral ischemic injury. The present study suggested that NDRG2 attenuated astrocytic cell death via the suppression of RIPK1. The pharmacological inhibition of astrocyte necroptosis by necrostatin-1 provided neuroprotection against ischemic brain injuries after N...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
AbstractPurpose of ReviewThe goal of the present paper is to provide a comprehensive overview of mental health concerns in young athletes, with a focus on common disorders, as well as population-specific risk factors.Recent FindingsAthletes experience similar mental health concerns as non-athlete peers, such as anxiety, depression and suicidal ideation, ADHD, eating disorders, and substance abuse. However, they also experience unique stressors that put them at risk for the development or exacerbation of mental health disorders. Student athletes have to balance academics with rigorous training regimens while focusing on opt...
Source: Current Psychiatry Reports - Category: Psychiatry Source Type: research
To test the hypothesis that REM sleep behavior disorder (RBD) in early Parkinson's disease (PD) predicts rapid progression of dopaminergic denervation.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Source Type: research
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Source: Rural and Remote Health - Category: Rural Health Tags: Rural Remote Health Source Type: research
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