Search results for "MAI"
showing 10 items of 6279 documents
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
2018
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…
Predicting Physical Activity-Related Outcomes in Overweight and Obese Adults: A Health Action Process Approach.
2016
Background We tested the adequacy of a model based on the Health Action Process Approach (HAPA) in predicting changes in psychological, body composition, and cardiovascular risk outcomes with respect to physical activity participation in overweight and obese adults. Methods Measures of HAPA constructs (action and maintenance self-efficacy, outcome expectancies, action planning, risk perceptions, intentions, behaviour), psychological outcomes (quality of life, depression, anxiety, stress symptoms), body composition variables (body weight, body fat mass), cardiovascular risk measures (total cholesterol, low density lipoprotein), and self-reported physical activity behaviour were administered …
Effects of Reslizumab on Asthma Outcomes in a Subgroup of Eosinophilic Asthma Patients with Self-Reported Chronic Rhinosinusitis with Nasal Polyps.
2019
Background An estimated 7% of patients with asthma have chronic rhinosinusitis with nasal polyps (CRSwNP), and more than 80% have at least some radiographic evidence of sinonasal inflammation. Aspirin sensitivity is strongly associated with elevated blood eosinophil levels and increased asthma severity. Intravenous (IV) reslizumab has been shown to improve asthma control in patients with nasal polyps. Objective These post hoc analyses of pooled data from 2 BREATH phase 3 clinical trials, studies 1 and 2 (NCT01287039 and NCT01285323), examined asthma-related outcomes in patients with comorbid, self-reported CRSwNP with and without aspirin sensitivity. Methods Patients aged 12-75 years with e…
Sleep quality and its association with substance abuse among university students
2019
Abstract Objective Poor sleep is one of the greatest health problems with social significance whose prevalence started early in adolescence. The relationship between poor sleep quality and the use of alcohol and illicit substances among university students has not been studied. Our study aimed to determine these relationships and the factors influencing the risk of poor sleep in students from health sciences degrees which are the future healthcare providers. Patients and methods A cross-sectional study performed in European university students (n = 676). Sleep quality was assessed by measuring insomnia symptoms with the Athens insomnia scale (AIS). The CRAFFT screening test and AUDIT test w…
Treatment and its side effects in ANCA-associated vasculitides - Study based on POLVAS registry data.
2020
Abstract Purpose The aim of this study is to present the treatment modalities and associated side effects in a Polish nation-wide ANCA-associated vasculitides (AAV) patients’ cohort. Materials and methods Retrospective analysis of patients diagnosed with AAV between 1990 and 2016, included in the POLVAS registry was performed. Standard descriptive statistic methods were used with an emphasis on the treatment modalities. Results There were 625 patients diagnosed with AAV included in this study: 417 cases of granulomatosis with polyangiitis (GPA; 66.7%), 106 cases of microscopic polyangiitis (MPA; 17.0%) and 102 cases of eosinophilic granulomatosis with polyangiitis (EGPA; 16.3%). The mean ag…
Corneal tattooing: an alternative treatment for disfiguring corneal scars.
2002
Background: The performance and results of corneal tattooing are described in a case series of 11 patients suffering from a disfiguring corneal scar using a technique similar to conventional dermatography. Methods: Drawing ink in different shades was applied into the anterior corneal stroma by punctures performed with a conventional spatula needle. Results: Up to 4 years after surgery all patients still had satisfactory staining of the formerly cosmetically disfiguring corneal scar. Conclusion: Tattooing of unsightly corneal scars proved to be an efficient and easy to perform technique, yielding acceptable results during follow up.
Insomnia symptoms combined with nocturnal hypoxia associate with cardiovascular comorbidity in the European sleep apnea cohort (ESADA)
2018
WOS: 000482433800011
Patient perspectives on methadone maintenance treatment in the Valencia Region: dose adjustment, participation in dosage regulation, and satisfaction…
2005
Desired adjustment of methadone dose, perceived participation in dosage regulation, and satisfaction with methadone treatment centres were assessed in a sample of opioid-dependent patients from the Valencia Region (eastern Spain). An independent interviewer asked 278 consecutively arriving patients to answer the survey, and 165 (59.4%) completed it. Adjustment of methadone dose was assessed with a -10 to +10 visual analogue scale (VAS-MD); participation in methadone dose regulation, with specific questions; and patient satisfaction, with the Verona Service Satisfaction Scale for methadone treatment (VSSS-MT). The methadone dose (mg/d) prescribed by physicians was (mean+/-S.D.) 68.0+/-30.4. …
Abortion induces reactivation of inflammation in relapsing-remitting multiple sclerosis
2018
ObjectiveTo investigate clinical and radiological outcomes of women with relapsing-remitting multiple sclerosis (RRMS) undergoing abortion.MethodsAn independent, multicentre retrospective study was conducted collecting data from eight Italian MS centres. We compared the preconception and postabortion annualised relapse rate (ARR) and number of Gadolinium enhancing (Gd+) lesions, by analyses of covariance. Variables associated with postabortion clinical and MRI activity were investigated using Poisson regression models; each abortion was considered as a statistical unit.ResultsFrom 1995 to 2017, we observed 188 abortions (17 elective) in 153 women with RRMS. Abortions occurred after a mean t…