Search results for "tic disorder"

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

2014

Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only …

How to integrate dreaming into a general theory of consciousness—A critical review of existing positions and suggestions for future research

2011

In this paper, we address the different ways in which dream research can contribute to interdisciplinary consciousness research. As a second global state of consciousness aside from wakefulness, dreaming is an important contrast condition for theories of waking consciousness. However, programmatic suggestions for integrating dreaming into broader theories of consciousness, for instance by regarding dreams as a model system of standard or pathological wake states, have not yielded straightforward results. We review existing proposals for using dreaming as a model system, taking into account concerns about the concept of modeling and the adequacy and practical feasibility of dreaming as a mod…

Analysis of the Ush2a Gene in Medaka Fish (Oryzias latipes)

2013

Patients suffering from Usher syndrome (USH) exhibit sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. USH is the most common genetic disorder affecting hearing and vision and is included in a group of hereditary pathologies associated with defects in ciliary function known as ciliopathies. This syndrome is clinically classified into three types: USH1, USH2 and USH3. USH2 accounts for well over one-half of all Usher cases and mutations in the USH2A gene are responsible for the majority of USH2 cases, but also for atypical Usher syndrome and recessive non-syndromic RP. Because medaka fish (Oryzias latypes) is an attractive model organism for ge…

Basic Dynamic States in Endogenous Psychoses, with Special Reference to the Pharmacotherapy of Depressive States

1959

Lip and oral lesions in children with Down syndrome. A controlled study

2015

Background: Down syndrome (DS) is the most common chromosomal abnormality affecting numerous organs, including the orofacial region. The objective of the present study was to assess the prevalence of lip and oral soft tissue lesions, with particular emphasize on the incidence of fissured tongue, lip fissures and angular cheilitis, among individuals with DS in Yemen. Material and Methods: This controlled cross-sectional study included 50 children with DS (6-18 years), and 50 age- and gender-matched healthy controls. The prevalence of orofacial soft tissue lesions was evaluated in both groups. Data were analyzed by Chi-square and Fisher tests, and p <0.05 was considered to be statistically si…

Koriģējoši attīstošā darbība sākumskolas skolēniem ar fonētiski fonemātiskiem traucējumiem

2015

Diplomdarbu „Koriģējoši attīstošā darbība sākumskolas skolēniem ar fonētiski fonemātiskiem traucējumiem” izstrādāja studiju programmas skolotājs – logopēds studente Ieva Liepiņa. Pētījuma mērķis bija noskaidrot, kā koriģējoši attīstošā darbība ietekmē fonētiski fonemātiskos traucējumus sākumskolas skolēniem. Tika izvirzīta hipotēze, ka koriģējoši attīstošā darbība sekmē fonētiski fonemātisko traucējumu novēršanu, ja ievēro skolēnu individuālās vecumposma likumsakarības un koriģējoši attīstošā darbība balstās uz noteiktām fonemātiskās uztveres traucējumu novēršanas metodēm. Pamatojoties uz teorētiskajām atziņām, diplomdarba autore izprot, ka fonētiski fonemātiskie traucējumi negatīvi ietekmē…

Facial Emotion Recognition in Psychosis and Associations With Polygenic Risk for Schizophrenia

2022

The EU-GEI Project was funded by the European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (Project EU-GEI). The Brazilian study was funded by the Säo Paulo Research Foundation under grant number 2012/0417-0.

Attentional biases towards emotional scenes in autism spectrum condition: An eye-tracking study.

2021

Abstract Background Different attentional processing of emotional information may underlie social impairments in Autism Spectrum Condition (ASC). It has been hypothesized that individuals with ASC show hypersensitivity to threat, which may be related to an avoidance behaviour. However, research on the attentional processing of emotional information in autism is inconclusive. Aim To examine the attentional processing biases of 27 children with ASC and 25 typically developed (TD) participants. Methods and procedures The initial orienting of attention, the attentional engagement, and the attentional maintenance to complex emotional scenes in competition (happy, neutral, threatening, sad) were …

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

2012

Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…

Retrospective Experiences of First-Episode Psychosis Treatment Under Open Dialogue-Based Services: A Qualitative Study.

2021

AbstractOpen Dialogue (OD) is an integrated approach to mental health care, which has demonstrated promising outcomes in the treatment of first-episode psychosis (FEP) in Finnish Western Lapland region. However, little is known how treatment under OD is retrospectively experienced by the service users themselves. To address this, twenty participants from the original Western Lapland research cohort diagnosed with psychosis (F20–F29) were asked about their treatment of FEP, initiated under OD 10–23 years previously. Thematic analysis was used to explore how the treatment was experienced. Most participants viewed network treatment meetings as an important part of their treatment, as they enab…