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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RESUMO Objetivo Avaliar o efeito do internato em sa úde mental nas atitudes dos alunos de medicina quanto ao portador de transtorno mental (PTM). Métodos Atitudes foram avaliadas por questionário antes e depois do internato, por meio dos fatores: “ aceita ção social de PTM ” (F1), “ n ão acreditar em causas sobrenaturais para doença mental ” (F2), “ pap éis sociais comuns para PTM ” (F3), “ acreditar em causas psicossociais para doen ça mental ” (F4), “ intimidade ” (F5). Diferen ças foram avali...
Source: Jornal Brasileiro de Psiquiatria - Category: Psychiatry Source Type: research
Publication date: Available online 20 October 2019Source: Neurotoxicology and TeratologyAuthor(s): Rodrigo Moreno Klein, Camila Rigobello, Camila Borecki Vidigal, Kawane Fabrício Moura, Décio Sabbatini Barbosa, Daniela Cristina Ceccatto Gerardin, Graziela Scalianti Ceravolo, Estefânia Gastaldello MoreiraAbstractParacetamol (PAR) is an over-the-counter medicine used as analgesic or antipyretic by 40–50% of the pregnant women in different countries. Epidemiologic studies have been associating maternal use of PAR with neurodevelopmental disruption and special attention has been given to its potential...
Source: Neurotoxicology and Teratology - Category: Toxicology Source Type: research
In the general population, there is a strong association between having a seizure disorder and excess mortality. Waddy and colleagues examined epilepsy and seizures in a national end-stage kidney disease (ESKD) database. They found that having a diagnosis of epilepsy or seizures was 9-fold and 2-fold higher in patients with ESKD than in the general population. After adjusting for potential confounding variables, patients with ESKD and epilepsy or seizures were found to have an 11% and 14% increase in death compared with those patients with ESKD without either diagnosis.
Source: Kidney International - Category: Urology & Nephrology Tags: In This Issue Source Type: research
Patients with end-stage renal disease requiring dialysis and persons with epilepsy are at increased risk of death. However, there is little information related to the risk of death when the 2 conditions co-exist. In this issue, Waddy et  al. determined that among patients with end-stage renal disease, those with a diagnose of epilepsy or seizures have a higher risk of all-cause mortality compared with those who do not have an epilepsy or seizure diagnosis. This association was further modified by neurology consultation, with a low er risk in persons who had received a consultation.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Commentary Source Type: research
CONCLUSIONS Our findings showed that about 20% of the youths had at least one mental disorder. However, this prevalence is underestimated since other relevant mental disorders were not assessed. Mental disorders were associated with higher suicide risk, especially the comorbidity between them.
Source: Revista de Saude Publica - Category: International Medicine & Public Health Source Type: research
AbstractFremanezumab (fremanezumab-vfrm; Ajovy®), a monoclonal antibody that targets calcitonin gene-related peptide (CGRP), is indicated for the prevention of migraine in adults in the EU and USA. Subcutaneous fremanezumab 225  mg once monthly or 675 mg once every 3 months was effective in reducing monthly migraine days or headache days in patients with episodic or chronic migraine in pivotal, 12-week clinical trials. Both regimens also reduce acute headache medication use and headache-related disability. Improvements were maintained through ≤ 52 weeks of additional treatment in a longer-...
Source: Drugs and Therapy Perspectives - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 20 October 2019Source: International Journal of PsychophysiologyAuthor(s): Eliana Vassena, Filip Van Opstal, Ingeborg Goethals, Tom VergutsAbstractThe ability to exert control has been widely investigated as a hallmark of adaptive behaviour. Dopamine is recognized as the key neuromodulator mediating various control-related processes. The neural mechanisms underlying the subjective perception of being in control, or Locus of Control (LOC) are however less clear. LOC indicates the subjective tendency to attribute environmental outcomes to one's actions (internal LOC) or instead to external ...
Source: International Journal of Psychophysiology - Category: Psychiatry & Psychology Source Type: research
Objective: To compare the rate of malreduction after high fibular fractures associated with syndesmosis injury treated with open reduction and internal fixation, with either 2 screws or 1 knotless TightRope device. Design: Prospective randomized controlled multicenter trial. Setting: Eleven academic and community hospitals including Level 1 and Level 2 trauma centers across Canada. Patients/Participants: One hundred three patients with OTA/AO 44-C injuries with demonstrated radiographic syndesmosis diastasis or instability after malleolar bony fixation were followed for 12 months after treatment. Methods: Ope...
Source: Journal of Orthopaedic Trauma - Category: Orthopaedics Tags: Original Article Source Type: research
Conclusions: Three thousand eight hundred ten articles were identified, and 12 met inclusion criteria. These studies encompassed 497 patients with an average age of 14.1 years (8–18 years, range). Both operative and nonoperative management of displaced midshaft clavicle fractures in this population provide excellent rates of union and patient-reported outcome measures. Compared with nonoperative management, operative management yielded faster return to activity, superior Constant scores, and equal QuickDASH scores. Operative management had higher complication rates and complications that required secondary operativ...
Source: Journal of Orthopaedic Trauma - Category: Orthopaedics Tags: Review Article Source Type: research
Conclusions: In the context of high judicialization, patients suffering from PD must increasingly use the judicial system to access treatment. To promote more equitable and efficient access benefit packages, developing countries must consider more thoroughly the needs of these patients. PMID: 31627711 [PubMed - as supplied by publisher]
Source: Expert Review of Pharmacoeconomics and Outcomes Research - Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research
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