Search results for "Repo"
showing 10 items of 2753 documents
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
2021
Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of bot…
Rasch analysis of the Lower Extremity Functional Scale for foot and ankle patients.
2018
Purpose: The Lower Extremity Functional Scale (LEFS) is a widely used 20-item patient-reported outcome instrument with five response categories. We investigated the measurement properties of the Finnish version of the LEFS among foot and ankle patients to refine the scale to measure more accurately what is relevant for patients.Materials and methods: Data were obtained from 182 patients who had undergone foot and ankle surgery for various reasons. The Rasch Measurement Theory and Cronbach's alpha were employed for analyses of model and item fit, response category thresholds, targeting, person separation index, and internal consistency.Results: Threshold misfit was noted in 13 of the 20 item…
Dry needling technique decreases spasticity and improves general functioning in incomplete spinal cord injury: A case report
2018
Context: Spasticity in neurological disorders (i.e. stroke patients and cerebral palsy) is positively improved by dry needling. However, reports are scarce regarding the potential effects of dry needling in reducing spasticity and improving functionality in patients with an incomplete spinal cord injury. The aim of this case report was to study the immediate, short-term effects of dry needling treatment (10 weeks) on spasticity, dynamic stability, walking velocity, self-independence, and pain in a single patient with an incomplete spinal cord injury. Findings: The dry needling treatment resulted in immediate, short-time effects on basal spasticity in the upper (reduction from 2 to 0 point m…
The effects of social anxiety on alcohol and cigarette use across adolescence: Results from a longitudinal twin study in Finland.
2016
Conflicting reports exist on the direction of the relationship between social anxiety (SA) and alcohol/cigarette use (AU/CU) and alcohol/nicotine dependence (AD/ND), with both positive and negative associations reported. A prospective, longitudinal sample of Finnish twins (n = 1,906) was used to test potential explanations for these discrepancies. Specifically, this study used peer, parent, and teacher ratings of SA, and a clinical interview screening item for social anxiety disorder (SAD-Sc) to examine associations between SA and AU/CU and AD/ND from early adolescence into young adulthood. Peer-rated SA was negatively associated with AU, CU, and AD from age 14 through age 22, implying a pr…
Disadvantaged neighborhoods and the spatial overlap of substantiated and unsubstantiated child maltreatment referrals
2019
Abstract Background Considerable debate exists on whether the substantiation decision is a reliable measure for rates of maltreatment. Studies have shown that risks among children victims of maltreatment versus children investigated but unsubstantiated are similar. Objective This paper aims to respond to two research questions: (1) Do most child maltreatment referrals, substantiated and unsubstantiated, come from the same neighborhoods? (2) Do substantiated and unsubstantiated referrals share the same neighborhood risk factors? Participants and settings We used geocoded data from substantiated (n = 1799) and unsubstantiated (n = 1638) child maltreatment referrals in Valencia, Spain (2004–20…
Unwanted effects: Is there a negative side of meditation? A multicentre survey
2017
Objectives Despite the long-term use and evidence-based efficacy of meditation and mindfulness-based interventions, there is still a lack of data about the possible unwanted effects (UEs) of these practices. The aim of this study was to evaluate the occurrence of UEs among meditation practitioners, considering moderating factors such as the type, frequency, and lifetime duration of the meditation practices. Methods An online survey was developed and disseminated through several websites, such as Spanish-, English- and Portuguese-language scientific research portals related to mindfulness and meditation. After excluding people who did not answer the survey correctly or completely and those w…
Clinical Frailty Scale for Risk Stratification in Patients with Sars-Cov-2 Infection
2020
Predictive factors for adverse outcomes in patients with COVID-19 are urgently needed. Data related to the applicability of the Clinical Frailty Scale (CFS) for risk stratification in patients with COVID-19 are currently lacking. We investigated the ability of CFS to predict need for mechanical ventilation and the duration of hospital stays in European patients with COVID-19. In total, 42 patients with confirmed COVID-19 infection admitted to the University Medical Center Mainz between March 3 and April 15 2020 were included into this validation study and data were retrospectively analyzed. CFS was assessed at admission in all patients. Patients were followed for need for mechanical ventil…
Physician–patient communication and patient-reported outcomes in the actinic keratosis treatment adherence initiative (AK-TRAIN): a multicenter, pros…
2017
Background: Patients with multiple actinic keratoses (AKs) should be treated with field-directed therapy. Such treatments challenge patients’ adherence due to out-of-pocket costs, length of treatment and severity of local skin reactions (LSRs). Effective physician–patient communication (PPC) may buffer therapy-related distress, thus improving quality of life, treatment satisfaction and adherence. Objectives: We evaluated the interplay between PPC, LSR intensity (safety) and lesion clearance rates (effectiveness) on treatment satisfaction, quality of life and treatment adherence among patients with multiple AKs receiving topical field-directed therapies. Methods: In this observational, multi…
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report
2019
Abstract Background Familial Mediterranean Fever is a monogenic autoinflammatory disease, typically characterized by recurrent attacks of fever, serositis, aphthous of oral mucosa, erythema. “Pyogenic arthritis, pyoderma gangrenosum and acne syndrome” is a rare autoinflammatory disease with variable expression and typically involving joints and skin. Both the diseases are linked by the overproduction of IL-1. Case presentation We report on the case of two siblings affected by recurrent attacks of fever, oral aphthous stomatitis, abdominal pain, arthritis, undefined dermatitis at the hands, associated with increased AST, ALT, C-reactive protein, erythrocyte sedimentation rate, serum amyloid …
Patient-reported impact of spondyloarthritis on work disability and working life: the ATLANTIS survey
2016
Background The aim was to establish how patients experience the impact of spondyloarthritis (SpA) on work disability and working life. Methods The survey was performed in 17/20 regions in Italy (1 January to 31 March 2013). A multiple-choice questionnaire was published on the official website of the sponsor - the National Association of Rheumatic Patients (ANMAR) - and hard-copies were distributed at outpatient clinics for rheumatic patients. Results Respondents (n = 770) were of both sexes (56 % men), educated (62 % at high school or more), of working age (75 % aged ≤60 years), and affected by SpA. The most common types diagnosed were ankylosing spondylitis (AS) (39 %) and psoriatic arthri…