Search results for "312"
showing 10 items of 582 documents
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
2009
Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…
Global, regional, and national progress towards Sustainable Development Goal 3.2 for neonatal and child health: all-cause and cause-specific mortalit…
2021
Background: Sustainable Development Goal 3.2 has targeted elimination of preventable child mortality, reduction of neonatal death to less than 12 per 1000 livebirths, and reduction of death of children younger than 5 years to less than 25 per 1000 livebirths, for each country by 2030. To understand current rates, recent trends, and potential trajectories of child mortality for the next decade, we present the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 findings for all-cause mortality and cause-specific mortality in children younger than 5 years of age, with multiple scenarios for child mortality in 2030 that include the consideration of potential effects of COVID-…
Effects of aerobic exercise on home-based sleep among overweight and obese men with chronic insomnia symptoms: a randomized controlled trial
2016
Objective: To determine the effect of a six-month aerobic exercise program on home-based sleep quality among overweight and obese men with chronic insomnia symptoms. Methods: Participants were 45 Finnish men (93% had body mass index >= 25) aged 30-65 years, with chronic months) insomnia symptoms as classified by the DSM-IV criteria. Participants were randomized into an exercise (n = 24) or control group (n = 21). The exercise group received six-month aerobic exercise intervention with one to five sessions per week of 30-60 minutes duration. The control group was instructed to maintain habitual lifestyle behaviors during the study period. Seven-night home sleep was measured with a piezoelect…
Androglobin: a chimeric globin in metazoans that is preferentially expressed in mammalian testes
2012
Abstract: Comparative genomic studies have led to the recent identification of several novel globin types in the Metazoa. They have revealed a surprising evolutionary diversity of functions beyond the familiar O2 supply roles of hemoglobin and myoglobin. Here we report the discovery of a hitherto unrecognized family of proteins with a unique modular architecture, possessing an N-terminal calpain-like domain, an internal, circular permuted globin domain, and an IQ calmodulin-binding motif. Putative orthologs are present in the genomes of many metazoan taxa, including vertebrates. The calpain-like region is homologous to the catalytic domain II of the large subunit of human calpain-7. The glo…
Reliability and validity of the Finnish version of the American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form, patient self-repor…
2014
Background The American Shoulder and Elbow Surgeons Standardized Shoulder Assessment Form (ASES) is one of the most widely used shoulder outcome tools in clinical work and in scientific studies. However, it has not been validated in the Finnish language. The aims of this study were to cross-culturally adapt the ASES to the Finnish language and to study the psychometric properties of the self-report section of the ASES. Methods A total of 105 patients with shoulder symptoms answered the questionnaires of the ASES, a single disability question, the Simple Shoulder Test (SST), and the Short-Form 36 Health Survey (SF-36). The reliability of the ASES questionnaire was studied using a test-retest…
Assessment of the structural validity of three foot and ankle specific patient-reported outcome measures
2020
Background: The structural validity of the Lower extremity functional scale (LEFS), the Visual analogue scale foot and ankle (VAS-FA), and the Western Ontario and McMaster Universities osteoarthritis index (WOMAC) has not been compared earlier in patients after foot and ankle surgery. Methods: Altogether 165 previously operated patients completed the foot and ankle specific instruments, the 15D health-related quality of life (HRQoL) instrument, and general health (VAS). Results: The LEFS, the VAS-FA and the WOMAC had slight differences in their measurement properties. The VAS-FA had the best targeting and coverage. All three foot and ankle measures accounted for mobility and usual activitie…
Clinical phenotypes and comorbidity in European sleep apnoea patients
2016
PubMed ID: 27701416
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM conso…
2015
To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for …
Genetic variants associated with human eye size are distinct from those conferring susceptibility to myopia
2021
Purpose: Emmetropization requires coordinated scaling of the major ocular components, corneal curvature and axial length. This coordination is achieved in part through a shared set of genetic variants that regulate eye size. Poorly coordinated scaling of corneal curvature and axial length results in refractive error. We tested the hypothesis that genetic variants regulating eye size in emmetropic eyes are distinct from those conferring susceptibility to refractive error.Methods: A genome-wide association study (GWAS) for corneal curvature in 22,180 adult emmetropic individuals was performed as a proxy for a GWAS for eye size. A polygenic score created using lead GWAS variants was tested for…
Death following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic
2021
Association of Surgeons in Training Surgical Summit, online, 17 Oct 2020 - 17 Oct 2020 2021 Virtual Annual Meeting / Surgical Research Society, online, 24 Mar 2021 - 25 Mar 2021, National Research Collaborative Meeting, online, 10 Dec 2020 - 10 Dec 2020, Royal Australasian College of Surgeons Annual Academic Surgery Conference, online, 5 Nov 2020 - 5 Nov 2020; The British journal of surgery : BJS 108(12), 1448-1464 (2021). doi:10.1093/bjs/znab336