Search results for "disorder"
showing 10 items of 6405 documents
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
Retrospective study of a series of 850 patients with temporomandibular dysfunction (TMD). Clinical and radiological findings
2009
Objective: To define the clinical and radiological characteristics of the four most common presentations of temporomandibular dysfunction-myofascial pain (MFP), disc displacement with reduction (DDWR), disc displacement without reduction (DDWoR), and osteoarthrosis (OR)-and to identify the differences among them. Material and methods: The study comprised a series of 850 patients (121 males and 729 females) seen between May 2003 and December 2006 in Valencia University General Hospital (Spain) for temporomandibular joint disease (TMJD). An analysis was made of the possible etiological factors (stress, traumatisms, sleep disturbances, parafunctional habits, reason for consultation), possible …
Eating-related Intrusive Thoughts Inventory: exploring the dimensionality of eating disorder symptoms.
2011
The aims of this study were, first, to examine the structure and validity of the Eating-related Intrusive Thoughts Inventory (INPIAS), a self-report questionnaire designed to assess eating disorders related to intrusive thoughts (EDITs), and second, to explore the existence of a continuum ranging from normal to abnormal thought intrusions related to eating, weight, and shape. Participants were 574 (408 women) nonclinical community individuals. Analyses revealed that EDITs can be clustered into three sets: appearance-dieting, need to exercise, and thoughts-impulses related to eating disorders. EDITs' consequences showed a two-factor structure: emotional consequences/personal meaning and tho…
The mediating effect of self-efficacy on the relationship between health locus of control and life satisfaction: A moderator role of movement disabil…
2019
Abstract Background Self-efficacy and health locus of control are widely recognized as psychological factors related to life satisfaction. However, little is known about the mechanisms of the decrease in life satisfaction in disabled people. Objective/Hypothesis The aim of the present study was to clarify the relationship between health locus of control (HLOC) and life satisfaction in people with acquired mobility impairment in comparison to a non-disabled sample, and to specify how self-efficacy interacts with these components. We hypothesized that self-efficacy is a mediator between HLOC and life satisfaction, and that disability moderates this relationship. Methods The cross-sectional st…
Are student nurses ready for new technologies in mental health? Mixed-methods study
2020
Abstract Background Technical innovations such as ecological momentary assessment (EMA), machine learning (ML), computerized adaptive testing (CAT), Digital Phenotyping, Clinical Decision Support Systems (CDSS), Algorithms, and Biomarkers have caused a paradigm shift in psychiatric care. The aim of the present study was to explore how student nurses view this paradigm shift, by assessing the acceptability of smartphone-based EMA, CAT, and biosensor-based Digital Phenotyping. We also investigated the factors affecting this acceptability. Method Student nurses recruited via nursing schools participated in a quantitative study involving the screenplay method, in which they were exposed to two …
Fluvoxamine or placebo in the treatment of panic disorder and relationship to blood concentrations of fluvoxamine.
1998
A six-week double-blind placebo-controlled trial of fluvoxamine was undertaken in 46 patients suffering from panic disorder with or without agoraphobia diagnosed by DSM-III-R guidelines. Average daily dosage of fluvoxamine was 160 mg, with a highest permitted dose of 300 mg/day. Weekly evaluation included a diary in which the number, severity, and duration of full-blown and limited panic attacks and the duration and severity of anticipating fear, CAS, GAS, CGI, HAM-D, adverse effects and the number of capsules not taken were noted. Fluvoxamine was not significantly superior to placebo with regard to the main outcome criterion, i.e., the reduction in the number of panic attacks, but it was s…
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
A clinical evaluation of the DSM-5 criteria for Internet Gaming Disorder and a pilot study on their applicability to further Internet-related disorde…
2019
Background and aims Internet Gaming Disorder (IGD) and other Internet-related disorders (IRDs) have become growing health concerns in our today’s lives. Based on defined diagnostic criteria, IGD has been recognized as a condition for further research in the DSM-5; however, other IRDs have been excluded. Since the release of the DSM-5, representativeness and appropriateness of the nine diagnostic criteria have been debated. Although some first evidence has been published to evaluate these criteria, our knowledge is still limited. Thus, the purpose of this study was to provide data on the clinical validity of the DSM-5 criteria for IGD and other types of IRD. We were also interested in exami…
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
2012
Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…
Association of nicotinic acetylcholine receptor subunit alpha 4 polymorphisms with nicotine dependence in 5500 Germans.
2009
Polymorphisms in the CHRNA4 gene coding the nicotinic acetylcholine receptor subunit alpha 4 have recently been suggested to play a role in the determination of smoking-related phenotypes. To examine this hypothesis, we conducted a genetic association study in three large samples from the German general population (N(1)=1412; N(2)=1855; N(3)=2294). Five single-nucleotide polymorphisms in CHRNA4 were genotyped in 5561 participants, including 2707 heavily smoking cases (regularly smoking at least 20 cigarettes per day) and 2399 never-smoking controls (or=100 cigarettes over lifetime). We examined associations of the polymorphisms with smoking case-control status and with the extent of nicotin…