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showing 10 items of 10184 documents
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Evaluation of the effect of an intervention on the nutritional status of hospitalized patients
2017
Abstract Background and objectives To compare the nutritional status of a population of hospitalized patients, divided into 2 different groups, both at admission and hospital discharge, and to assess the influence of nutritional alteration during the hospital stay. Material and methods Quasi-experimental study comprising 2 groups of patients (N = 581): an intervention group (n = 303), in which nurses received specific training on managing care methodology, and a control group (n = 278), in which nurses continued their usual dynamics. Each group was made up of 2 care units with patients from both surgical and medical specialties. Inclusion criteria: patients admitted to the selected units wi…
Notch‐1 signaling activation sustains overexpression of interleukin 33 in the epithelium of nasal polyps
2019
Abstract BACKGROUND: Alterations in the nasal epithelial barrier homeostasis and increased interleukin 33 (IL-33) expression contribute to the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP). AIMS: As Notch-1 signaling is crucial in repair processes of mucosa, the current study assessed Notch-1/Jagged-1 signaling and IL-33 in the epithelium of nasal polyps biopsies from allergic (A-CRSwNP; n = 9) and not allergic (NA-CRSwNP; n = 9) subjects by immunohistochemistry. We also assessed, in a model of nasal epithelial cells, the effects of stimulation of Notch-1 with Jagged-1 on the expression of IL-33 (by flow cytometry, immunofluorescence, and immunocytochemistry), Jagged-1 (…
Symmetry function in gait pattern analysis in patients after unilateral transfemoral amputation using a mechanical or microprocessor prosthetic knee
2021
AbstractBackgroundAbove-knee amputations (AKAs) contribute to gait asymmetry. The level of asymmetry is affected by the type of knee prosthetic module. There is limited evidence suggesting that more technically advanced solutions (microprocessor modules; MicPK) are superior to less advanced ones (mechanical modules; MechPK). The study aimed to evaluate the variable range of hip and pelvic joint movements during gait and look for differentiating areas with an increased level of asymmetry of the gait cycle in individuals who underwent an AKA and are equipped with MicPK or MechPK.MethodsTwenty-eight individuals participated in the study; 14 were assigned to a study group of individuals who und…
The Social Phobia and Anxiety Inventory: Psychometric Properties in a Spanish Sample
2007
This study is a validation of the Spanish version of the Social Phobia and Anxiety Inventory using a nonclinical sample (198 participants) and a clinical sample (72 participants with social phobia). The factor structure and concurrent validity with Fear of Negative Evaluation and Social Avoidance and Distress scales were analyzed. The Social Phobia and Anxiety Inventory demonstrated good concurrent validity, showing statistically significant relationships with Fear of Negative Evaluation and Social Avoidance and Distress. Results confirmed the rationale for the division of the SPAI into two subscales. Results also demonstrated the utility of the Social Phobia and Anxiety Inventory for diff…
From being alone to being the only one: Neuroticism is associated with an egocentric shift in an alone context
2019
Objective This research presents evidence for an egocentric shift occurring among individuals high in Neuroticism by the mere thought-and actual state-of being alone. Method Four experiments and one experience sampling study (N = 719). In the experiments, Neuroticism was measured, and participants were randomly primed to adopt either an alone or a "with others" social context mind-set. The experiments measured different expressions of egocentrism. Study 1 measured perspective-taking, Study 2a was focused on social value orientation, Study 2b measured money allocation in a dictator game, and Study 3 measured self-reported and behavioral interpersonal trust. Trust was also the focus of Study …
Assessing Planning Ability Across the Adult Life Span in a Large Population-Representative Sample: Reliability Estimates and Normative Data for the T…
2019
AbstractObjectives:The Tower of London (TOL) test has probably become the most often used task to assess planning ability in clinical and experimental settings. Since its implementation, efforts were made to provide a task version with adequate psychometric properties, but extensive normative data are not publicly available until now. The computerized TOL-Freiburg Version (TOL-F) was developed based on theory-grounded task analyses, and its psychometric adequacy has been repeatedly demonstrated in several studies but often with small and selective samples.Method:In the present study, we now report reliability estimates and normative data for the TOL-F stratified for age, sex, and education …
Problematic video game use as an emotional coping strategy: Evidence from a sample of MMORPG gamers
2019
Background A positive relationship between problematic gaming and escapism motivation to play video games has been well established, suggesting that problematic gaming may result from attempts to deal with negative emotions. However, to date, no study has examined how emotion dysregulation affects both escapism motives and problematic gaming patterns. Methods Difficulties in emotion regulation, escapism, and problematic involvement with video games were assessed in a sample of 390 World of Warcraft players. A structural equation modeling framework was used to test the hypothesis that escapism mediates the relationship between emotion dysregulation and problematic gaming. Results Statistica…
The Finnish Clinical Outcome in Routine Evaluation Outcome Measure psychometric exploration in clinical and non-clinical samples
2017
The Clinical Outcomes in Routine Evaluation Outcome Measure (CORE-OM) is a 34-item self-report measure designed to monitor changes in psychiatric patients. It has been translated into 25 languages, including Finnish. This is the first psychometric exploration of Finnish CORE-OM data. The aim of the study is to examine acceptability, internal consistency and convergent validity of the Finnish CORE-OM scores. Translation of the CORE-OM from English to Finnish was undertaken according to recommended protocols. Psychometric exploration was conducted in two samples: psychiatric patients (N = 201) and non-clinical participants (N = 209). Participation was voluntary and involved completion of all …
Accommodative Functions with Multifocal Contact Lenses: A Pilot Study
2011
PURPOSE: To evaluate accommodative response and facility in presbyopic patients fitted with several types of simultaneous-image multifocal contact lenses (CLs). METHODS: Six presbyopic patients, unadapted wearers of simultaneous-image bifocals, were fitted with the Focus Progressives and the low- and high-addition Pure Vision simultaneous vision multifocal CLs. Each individual wore each of the three types of lenses in successive random order. Accommodative response, accommodative facility, visual acuity, and contrast sensitivity at distance and near were evaluated in all cases. A control group of eight non-presbyopic patients was also studied. RESULTS: The mean age was 28.6 +/- 2.72 and 51.…