Search results for "Data"
showing 10 items of 12992 documents
Rare pre-core stop-codon mutant nt. 1897 predominates over wide-spread mutant nt. 1896 in an unusual course of chronic hepatitis B
1996
We present a patient with an unusual course of hepatitis B e antigen (HBeAg)-negative chronic hepatitis B who had repeated reactivations of his disease progressing to cirrhosis with terminal liver failure. Each flare up presented like an acute hepatitis with very high titres of hepatitis B virus (HBV) and high inflammatory activity followed by rapid clearance of viraemia. The pre-core genome of HBV isolated from sera during 5 years of follow up was analysed. Direct sequencing of polymerase chain reaction (PCR) products derived from consecutive sera showed a rare pre-core stop-codon mutation at nucleotide (nt.) 1897 G --> A with an accompanying mutation nt. 1857 C --> T as well as a stop-cod…
Serum hepatitis C virus (HCV)-RNA and response to alpha-interferon in anti-HCV positive chronic hepatitis
1992
Hepatitis C virus (HCV) replication was assessed before and during alpha-interferon (IFN) treatment in 22 anti-HCV positive patients with posttransfusion or sporadic chronic hepatitis (CH). Eleven patients were “responders” and 11 patients “non-responders” to IFN. Thirteen anti-HCV negative healthy subjects and five anti-HCV negative patients with autoimmune CH served as controls. Serum HCV-RNA was detected by the polymerase chain reaction (PCR) in all untreated anti-HCV positive patients but in none of the anti-HCV negative subjects. PCR primers from the 5′-non-coding (NC) region were more sensitive than primers from a non-structural (NS5) region in detecting HCV-RNA (21/22, 95% vs. 7/22, …
Clinical Application Research through reflection, interpretation and new understanding - a hermeneutic design
2018
The implementation of theoretical knowledge in clinical practice and the implementation of good clinical practice into theory have been of interest in caring science for the last 30 years. The aim of this article was to elaborate and discuss a methodology named clinical application research. The method is grounded in a hermeneutical design inspired by Gadamer's philosophy. The methodology, clinical application research, has been used in a research project A life in dignity and experiences from the researchers forms the bases for the elaboration and discussion. The project was performed in collaboration with residents, family caregivers and healthcare providers at six nursing homes in Scandi…
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
2010
Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
Thrombosis in inherited factor VII deficiency
2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in seven. Gene mutations were characterized in eight patients: three were homozygous, three compound heterozygous and two heterozygous. FXa and IIa generation assays were consistent with the genetic lesions. One patient was heterozygous for the FV Leiden and one for the FIIG20210A mutation. In seven patients, surgical interventions and/or replacem…
Effects of Heat Waves on Mortality
2013
Heat waves and air pollution are both associated with increased mortality. Their joint effects are less well understood.We explored the role of air pollution in modifying the effects of heat waves on mortality, within the EuroHEAT project. Daily mortality, meteorologic, and air pollution data from nine European cities for the years 1990-2004 were assembled. We defined heat waves by taking both intensity and duration into account. The city-specific effects of heat wave episodes were estimated using generalized estimating equation models, adjusting for potential confounders with and without inclusion of air pollutants (particles, ozone, nitrogen dioxide, sulphur dioxide, carbon monoxide). To …
Redundant and synergistic information transfer in cardiovascular and cardiorespiratory variability
2015
In the framework of information dynamics, new tools are emerging which allow one to quantify how the information provided by two source processes about a target process results from the contribution of each source and from the interaction between the sources. We present the first implementation of these tools in the assessment of short-term cardiovascular and cardiorespiratory variability, by introducing two strategies for the decomposition of the information transferred to heart period (HP) variability from systolic arterial pressure (SAP) and respiration flow (RF) variability. Several measures based on the notion of transfer entropy (TE) are defined to quantify joint, individual and redun…
Instantaneous Transfer Entropy for the Study of Cardiovascular and Cardio-Respiratory Nonstationary Dynamics
2017
Objective: Measures of transfer entropy (TE) quantify the direction and strength of coupling between two complex systems. Standard approaches assume stationarity of the observations, and therefore are unable to track time-varying changes in nonlinear information transfer with high temporal resolution. In this study, we aim to define and validate novel instantaneous measures of TE to provide an improved assessment of complex nonstationary cardiorespiratory interactions. Methods: We here propose a novel instantaneous point-process TE (ipTE) and validate its assessment as applied to cardiovascular and cardiorespiratory dynamics. In particular, heartbeat and respiratory dynamics are characteriz…
Lag-specific transfer entropy as a tool to assess cardiovascular and cardiorespiratory information transfer
2014
In the study of interacting physiological systems, model-free tools for time series analysis are fundamental to provide a proper description of how the coupling among systems arises from the multiple involved regulatory mechanisms. This study presents an approach which evaluates direction, magnitude, and exact timing of the information transfer between two time series belonging to a multivariate dataset. The approach performs a decomposition of the well-known transfer entropy (TE) which achieves 1) identifying, according to a lag-specific information-theoretic formulation of the concept of Granger causality, the set of time lags associated with significant information transfer, and 2) assig…
Physical activity, sugar-sweetened beverages, whole grain bread and insomnia among adolescents and psychological distress in adulthood: prospective d…
2021
Abstract Background In this study, we examined the relationship between low levels of physical activity, high consumption of sugar-sweetened beverages and low consumption of whole grain bread and experiencing insomnia in adolescence and psychological distress in young adults. Methods This prospective study was based on information retrieved from the Trøndelag Health Study (HUNT) in Norway and included adolescents (age 13–19) participating in Young-HUNT3 (2006–2008) and in HUNT4 (2017–2019) 11 years later (age 23–31). The study sample consisted of 2,230 participants (1,287 females and 943 males). The exposure variables collected in adolescence included self-reported physical activity, consum…