3.39 excessive plasma ab40/42 in fragile x syndrome

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is associated with increased risk for ASD, anxiety, ADHD, and epilepsy. Although our understanding of FXS pathophysiology has improved, a lack of validated blood-based biomarkers of disease continues to impede bench-to-bedside efforts. As a biomarker target in FXS, amyloid- β (Aβ) precursor protein (APP) is best understood in the context of Alzheimer disease; there is a growing body of evidence suggesting that the molecule and its derivatives play a broader role in neuronal hyperexcitability, a characteristic of FXS.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research

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We report a case of a 52-year-old man with drug-resistant temporal lobe epilepsy, with post-ictal violent aggressive behaviors. Postictal violent outbursts would occur 3-4 times per year following clusters of seizures or generalized tonic-clonic convulsion...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
OBJECTIVES: To determine the impact of legislative changes to the New South Wales (NSW) workers' compensation scheme on injured workers access to benefits, insurer claim processing and work disability duration. METHODS: Population-based interrupted...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
Young mothers face considerable challenges that can affect their mental health, with anxiety being one of the most common mental health problems observed in this population. Furthermore, pregnancy is one of the risk factors for intimate partner violence (I...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Economics of Injury and Safety, PTSD, Injury Outcomes Source Type: news
CONCLUSIONS: We confirmed a significant association between inconvenient transportation and unmet healthcare needs among the rural elderly even after adjustment for existing known factors. This implies that policies aimed at improving healthcare accessibility must consider the means of transportation available. PMID: 31795612 [PubMed - in process]
Source: Journal of Preventive Medicine and Public Health - Category: International Medicine & Public Health Tags: J Prev Med Public Health Source Type: research
Conclusions: While patients with migraine and TTH evalute, taking into account the SSA and health anxiety may contribute to the prognosis and treatment of these diseases.RESUMO Embora se saiba que os dist úrbios de ansiedade e depressão frequentemente acompanhem a enxaqueca e a TTH, o papel da amplificação somatossensorial (somatosensory amplification, SSA) e da hipocondria nessas doenças ainda não é bem conhecido. Objetivo: O presente estudo faz uma comparação entre pacientes que sofrem de enxaqueca e TTH com um grupo de controle saudável em termos de S...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Conclusions: Students' visits to PALS may contribute to the maintenance of the QOL of the patients. Additionally, visits, with psychological support for the students, seem safe and could contribute to the students' psychological maturation as health professionals. Additional psychological support may be necessary for some students in fragile subgroups/moments.RESUMO Esclerose lateral amiotr ófica (ELA) é doença neurodegenerativa sem cura, mas tratamento multidisciplinar pode manter qualidade de vida (QOL). Embora profissionais de saúde possam ser afetados pela atuação na ELA, pouco...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Conclusion: There was a statistically significant association between the EOR and the Engel score for epilepsy control: an EOR 90 was associated with Engel I. Eloquent area gliomas can safely be resected when surgeons use not only microsurgical anatomy concepts but also brain mapping.RESUMO Epilepsia refrat ária secundária a tumores cerebrais são geralmente causadas por gliomas de baixo grau. Esse grupo de tumor é frequentemente localizado em áreas eloquentes do cérebro como na insula, córtex rolândico e área motora suplementar; e sua ressecção apr...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
ABSTRACT The association between Alzheimer's disease (AD) and sleep disturbances has received increasing scientific attention in the last decades. However, little is known about the impact of sleep and its disturbances on the development of preclinical AD stages, such as mild cognitive impairment. This review describes the evolution of knowledge about the potential bidirectional relationships between AD and sleep disturbances exploring recent large prospective studies and meta-analyses and studies of the possible mechanisms through which sleep and the neurodegenerative process could be associated. The review also makes a c...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
ABSTRACT Jean-Martin Charcot, the most celebrated neurologist of the 19th century, had a profound influence on Sigmund Freud's career. Freud spent the winter of 1885-1886 working in Charcot's neurology department in Paris. During this period, he went to Charcot's house on several occasions to participate in the very famous Tuesday soir ées under the guidance of Gilles de la Tourette. Freud was always very proud to be invited and curious to meet the Parisian intellectual elite. On these occasions, however, he was very apprehensive and made frequent use of cocaine. Due to anxiety and the need to appear creative in fro...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Authors: Yan Z, Zhang S, Liu X, Metaxas DN, Montillo A, AIBL Abstract Accurate segmentation of the 30+ subcortical structures in MR images of whole diseased brains is challenging due to inter-subject variability and complex geometry of brain anatomy. However a clinically viable solution yielding precise segmentation of the structures would enable: 1) accurate, objective measurement of structure volumes many of which are associated with diseases such as Alzheimer's, 2) therapy monitoring and 3) drug development. Our contributions are two-fold. First we construct an extended adaptive statistical atlas method (EASA) t...
Source: Proceedings - International Symposium on Biomedical Imaging - Category: Radiology Tags: Proc IEEE Int Symp Biomed Imaging Source Type: research
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