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排序方式: 共有110条查询结果,搜索用时 710 毫秒
1.
Guido J. Breedveld Gijs W.E. Santen Emmelien Aten Dirk J. Lefeber Jorrit I. Hoff Esther Brusse Frans W. Verheijen Rob M. Verdijk Marjolein Kriek Ben Oostra Martijn H. Breuning Monique Losekoot Johan T. den Dunnen Bart P. van de Warrenburg Anneke J.A. Maat‐Kievit 《Human mutation》2013,34(5):706-713
Spinocerebellar ataxias are phenotypically, neuropathologically, and genetically heterogeneous. The locus of autosomal recessive spinocerebellar ataxia type 7 (SCAR7) was previously linked to chromosome band 11p15. We have identified TPP1 as the causative gene for SCAR7 by exome sequencing. A missense and a splice site variant in TPP1, cosegregating with the disease, were found in a previously described SCAR7 family and also in another patient with a SCAR7 phenotype. TPP1, encoding the tripeptidyl‐peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease). CLN2 disease is characterized by epilepsy, loss of vision, ataxia, and a rapidly progressive course, leading to early death. SCAR7 patients showed ataxia and low activity of tripeptidyl‐peptidase 1, but no ophthalmologic abnormalities or epilepsy. Also, the slowly progressive evolution of the disease until old age and absence of ultra structural curvilinear profiles is different from the known CLN2 phenotypes. Our findings now expand the phenotypes related to TPP1‐variants to SCAR7. In spite of the limited sample size and measurements, a putative genotype–phenotype correlation may be drawn: we hypothesize that loss of function variants abolishing TPP1 enzyme activity lead to CLN2 disease, whereas variants that diminish TPP1 enzyme activity lead to SCAR7. 相似文献
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Frans Steenbrink Carel G. M. Meskers Bart van Vliet Jorrit Slaman H. E. J. Veeger Jurriaan H. De Groot 《Medical & biological engineering & computing》2009,47(5):565-572
For isometric tasks, shoulder muscle forces are assumed to scale linearly with the external arm load magnitude, i.e., muscle
force ratios are constant. Inverse dynamic modeling generally predicts such linear scaling behavior, with a critical role
for the arbitrary load sharing criteria, i.e., the “cost function”. We tested the linearity of the relation between external
load magnitude exerted on the humerus and shoulder muscle activation. Six isometric force levels ranging from 17 to 100% of
maximal arm force were exerted in 24 directions in a plane perpendicular to the longitudinal axis of the humerus. The direction
of maximum muscle activation, the experimentally observed so called Principal Action (PA), was determined for each force magnitude
in 12 healthy subjects. This experiment was also simulated with the Delft Shoulder and Elbow Model (DSEM) using two cost functions:
(1) minimizing muscle stress and (2) a compound, energy related cost function. PA, both experimental (PAexp) and simulated (PAsim), was expected not to change with arm forces magnitudes. PAexp of the mm. trapezius pars descendens, deltoideus pars medialis and teres major changed substantially as a function of external
force magnitude, indicating external load dependency of shoulder muscle activation. In DSEM simulations, using the stress
cost function, small non-linearities in the muscle force–external load dependency were observed, originating from gravitational
forces working on clavicular and scapular bone masses. More pronounced non-linearities were introduced by using the compound
energy related cost function, but no similarity was observed between PAexp and PAsim. 相似文献
4.
Cystic fibrosis is the most common serious genetic disorder in people of European descent. Treatment of these patients is
ongoing throughout life and until now has been aimed at the consequences and is still not curative. Over the past 10–20 years,
there has been a dramatic improvement of mortality rates for cystic fibrosis, due in large part to advances in medical care.
The average age of survival for young people with cystic fibrosis is pushing well into the 20s with one third living into
their 30s. Consequently, education plays a major role in management of patients with cystic fibrosis, and starts directly
after being sure of the diagnosis. Growing up, these patients experience a lot of problems, and these are especially marked
in the adolescent. A special problem, for many cystic fibrosis patients is becoming an adult. Continuity in care for these
patients from the pediatric to the adult department is not always guaranteed.
It is concluded that patients with cystic fibrosis should be treated in specialized centers, and such treatment cannot be
carried out sufficiently by one person, but has to be embedded in a team of caregivers. 相似文献
5.
Scholtens S Brunekreef B Visscher TL Smit HA Kerkhof M de Jongste JC Gerritsen J Wijga AH 《European journal of public health》2007,17(4):369-374
BACKGROUND: In adults, body weight tends to be underestimated when based on self-reported data. Whether this discrepancy between measured and reported data exists in healthy young children is unclear. We studied whether parental reported body weight and height of 4-year-old children corresponded with measured body weight and height. In addition, we studied the determinants and the consequences of differences between reported and measured data. METHODS: Data on body weight and height of 864 4-year-old Dutch children born in 1996/1997 enrolled in the Prevention and Incidence of Asthma and Mite Allergy (PIAMA) birth cohort study were collected via a questionnaire and a medical examination. Overweight was defined according to standard international age and gender specific definitions. RESULTS: Mean differences between measured and reported body weight, height, and body mass index (BMI) were small. Parents of children with a low BMI tended to over report body weight while parents of children with a high BMI tended to underreport body weight. Whereas 9.5% of the children were overweight according to reported BMI, the prevalence of overweight was 13.4% based on measured BMI. Over 45% of the overweight children according to measured BMI were missed when reported BMI was used. CONCLUSION: These findings suggest that overweight prevalence rates in children are underestimated when based on reported weight and height. 相似文献
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Gu YJ van Oeveren W Mungroop HE Epema AH den Hamer IJ Keizer JJ Leuvenink RP Mariani MA Rakhorst G 《Artificial organs》2011,35(2):E18-E26
Although the centrifugal pump has been widely used as a nonpulsatile pump for cardiopulmonary bypass (CPB), little is known about its performance as a pulsatile pump for CPB, especially on its efficacy in producing hemodynamic energy and its clinical effectiveness. We performed a study to evaluate whether the Rotaflow centrifugal pump produces effective pulsatile flow during CPB and whether the pulsatile flow in this setting is clinically effective in adult patients undergoing cardiac surgery. Thirty-two patients undergoing CPB for elective coronary artery bypass grafting were randomly allocated to a pulsatile perfusion group (n = 16) or a nonpulsatile perfusion group (n = 16). All patients were perfused with the Rotaflow centrifugal pump. In the pulsatile group, the centrifugal pump was adjusted to the pulsatile mode (60 cycles/min) during aortic cross-clamping, whereas in the nonpulsatile group, the pump was kept in its nonpulsatile mode during the same period of time. Compared with the nonpulsatile group, the pulsatile group had a higher pulse pressure (P < 0.01) and a fraction higher energy equivalent pressure (EEP, P = 0.058). The net gain of pulsatile flow, represented by the surplus hemodynamic energy (SHE), was found much higher in the CPB circuit than in patients (P < 0.01). Clinically, there was no difference between the pulsatile and nonpulsatile groups with regard to postoperative acute kidney injury, endothelial activation, or inflammatory response. Postoperative organ function and the duration of hospital stay were similar in the two patient groups. In conclusion, pulsatile CPB with the Rotaflow centrifugal pump is associated with a small gain of EEP and SHE, which does not seem to be clinically effective in adult cardiac surgical patients. 相似文献
9.
Pillai SG Chiano MN White NJ Speer M Barnes KC Carlsen K Gerritsen J Helms P Lenney W Silverman M Sly P Sundy J Tsanakas J von Berg A Whyte M Varsani S Skelding P Hauser M Vance J Pericak-Vance M Burns DK Middleton LT Brewster SR Anderson WH Riley JH 《European journal of human genetics : EJHG》2006,14(3):307-316
Asthma is a complex disease and the intricate interplay between genetic and environmental factors underlies the overall phenotype of the disease. Families with at least two siblings with asthma were collected from Europe, Australia and the US. A genome scan using a set of 364 families with a panel of 396 microsatellite markers was conducted. Nonparametric linkage analyses were conducted for asthma and three asthma-related phenotypes: bronchial hyper-reactivity (BHR), strict definition of asthma and atopic asthma. Nine chromosomal regions with LOD scores greater than 1.5 were identified (chromosomes 1q, 2p, 3q, 4p, 4q, 6q, 12q, 20p and 21). Linkage refinement analysis was performed for three BHR loci by genotyping single nucleotide polymorphisms at an average marker density of 1 cM. The LOD scores increased to 3.07 at chromosome 4p and 4.58 at chromosome 2p, while the chromosome 6p locus did not refine. The LOD score at the chromosome 2p locus is highly significant on a genome-wide basis. The refined locus covers a region with a physical size of 12.2 Mb. Taken together, these results provide evidence for a major asthma susceptibility locus on chromosome 2p. 相似文献
10.
Schweigmann U Schwarz B Velik-Salchner C Hangler H Cottogni M Kilo J Brunnemann J Geiger R Stein JI Frühwirth M Neu N Meierhofer C Schermer E 《ASAIO journal (American Society for Artificial Internal Organs : 1992)》2008,54(5):551-553
The use of venoarterial extracorporal membrane oxygenation and ventricular assist-devices in children with end stage heart failure is well established. The use of a bridge-to-bridge strategy leads to excellent survival rates in pediatric patients. We present an adolescent, who acquired acute respiratory failure, due to possible transfusion related lung injury, and who was successfully treated with venovenous extracorporal membrane oxygenation while on ventricular assist-device support. 相似文献