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排序方式: 共有115条查询结果,搜索用时 15 毫秒
51.
MG Mullender NA Blom M De Kleuver JM Fock WMGC Hitters AMC Horemans CJ Kalkman JEH Pruijs RR Timmer PJ Titarsolej NC Van Haasteren Tol-de MJ Van Jager AJ Van Vught BJ Van Royen 《Scoliosis》2008,3(1):1-14
Background
Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a progressive scoliosis. A severe scoliosis compromises respiratory function and makes sitting more difficult. Spinal surgery is considered the primary treatment option for correcting severe scoliosis in neuromuscular disorders. Surgery in this population requires a multidisciplinary approach, careful planning, dedicated surgical procedures, and specialized after care.Methods
The guideline is based on scientific evidence and expert opinions. A multidisciplinary working group representing experts from all relevant specialties performed the research. A literature search was conducted to collect scientific evidence in answer to specific questions posed by the working group. Literature was classified according to the level of evidence.Results
For most aspects of the treatment scientific evidence is scarce and only low level cohort studies were found. Nevertheless, a high degree of consensus was reached about the management of patients with scoliosis in neuromuscular disorders. This was translated into a set of recommendations, which are now officially accepted as a general guideline in the Netherlands.Conclusion
In order to optimize the treatment for scoliosis in neuromuscular disorders a Dutch guideline has been composed. This evidence-based, multidisciplinary guideline addresses conservative treatment, the preoperative, perioperative, and postoperative care of scoliosis in neuromuscular disorders. 相似文献52.
Anni 2.0 is an online tool () to aid the biomedical researcher with a broad range of information needs. Anni provides an ontology-based interface to MEDLINE
and retrieves documents and associations for several classes of biomedical concepts, including genes, drugs and diseases,
with established text-mining technology. In this article we illustrate Anni's usability by applying the tool to two use cases:
interpretation of a set of differentially expressed genes, and literature-based knowledge discovery. 相似文献
53.
M Lundervold EJ Milner-Gulland CJ O'Callaghan C Hamblin A Corteyn AP Macmillan 《Acta veterinaria Scandinavica》2004,45(4):211-224
The results of a serological survey of livestock in Kazakhstan, carried out in 1997–1998, are reported. Serum samples from
958 animals (cattle, sheep and goats) were tested for antibodies to foot and mouth disease (FMD), bluetongue (BT), epizootic
haemorrhagic disease (EHD), rinderpest (RP) and peste des petits ruminants (PPR) viruses, and to Brucella spp. We also investigated the vaccination status of livestock and related this to changes in veterinary provision since independence
in 1991. For the 2 diseases under official surveillance (FMD and brucellosis) our results were similar to official data, although
we found significantly higher brucellosis levels in 2 districts and widespread ignorance about FMD vaccination status. The
seroprevalence for BT virus was 23%, and seropositive animals were widespread suggesting endemicity, despite the disease not
having being previously reported. We found a few seropositives for EHDV and PPRV, which may suggest that these diseases are
also present in Kazakhstan. An hierarchical model showed that seroprevalence to FMD and BT viruses were clustered at the farm/village
level, rather than at a larger spatial scale. This was unexpected for FMD, which is subject to vaccination policies which
vary at the raion (county) level. 相似文献
54.
Rebecca Pask Helen E Rance Bryan J Barratt Sarah Nutland Deborah J Smyth Meera Sebastian Rebecca CJ Twells Anne Smith Alex C Lam Luc J Smink Neil M Walker John A Todd 《BMC biotechnology》2004,4(1):1-8
Background
Sustainable DNA resources and reliable high-throughput genotyping methods are required for large-scale, long-term genetic association studies. In the genetic dissection of common disease it is now recognised that thousands of samples and hundreds of thousands of markers, mostly single nucleotide polymorphisms (SNPs), will have to be analysed. In order to achieve these aims, both an ability to boost quantities of archived DNA and to genotype at low costs are highly desirable. We have investigated Φ29 polymerase Multiple Displacement Amplification (MDA)-generated DNA product (MDA product), in combination with highly multiplexed BeadArray? genotyping technology. As part of a large-scale BeadArray genotyping experiment we made a direct comparison of genotyping data generated from MDA product with that from genomic DNA (gDNA) templates.Results
Eighty-six MDA product and the corresponding 86 gDNA samples were genotyped at 345 SNPs and a concordance rate of 98.8% was achieved. The BeadArray sample exclusion rate, blind to sample type, was 10.5% for MDA product compared to 5.8% for gDNA.Conclusions
We conclude that the BeadArray technology successfully produces high quality genotyping data from MDA product. The combination of these technologies improves the feasibility and efficiency of mapping common disease susceptibility genes despite limited stocks of gDNA samples. 相似文献55.
Rob Jelier Guido Jenster Lambert CJ Dorssers Bas J Wouters Peter JM Hendriksen Barend Mons Ruud Delwel Jan A Kors 《BMC bioinformatics》2007,8(1):14
Background
High-throughput experiments, such as with DNA microarrays, typically result in hundreds of genes potentially relevant to the process under study, rendering the interpretation of these experiments problematic. Here, we propose and evaluate an approach to find functional associations between large numbers of genes and other biomedical concepts from free-text literature. For each gene, a profile of related concepts is constructed that summarizes the context in which the gene is mentioned in literature. We assign a weight to each concept in the profile based on a likelihood ratio measure. Gene concept profiles can then be clustered to find related genes and other concepts. 相似文献56.
Using ontologies to describe mouse phenotypes 总被引:1,自引:1,他引:0
The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard, structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel, compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility, power and economy than previous approaches. We discuss some of the issues this approach raises. 相似文献
57.
Replacement of K-Ras with H-Ras supports normal embryonic development despite inducing cardiovascular pathology in adult mice 总被引:1,自引:0,他引:1
Potenza N Vecchione C Notte A De Rienzo A Rosica A Bauer L Affuso A De Felice M Russo T Poulet R Cifelli G De Vita G Lembo G Di Lauro R 《EMBO reports》2005,6(5):432-437
Ras proteins are highly related GTPases that have key roles in regulating growth, differentiation and tumorigenesis. Gene-targeting experiments have shown that, out of the three mammalian ras genes, only K-ras is essential for normal mouse embryogenesis, and that mice deprived of H-ras and/or N-ras show no major phenotype. We generated mice (HrasKI) in which the K-ras gene had been modified to encode H-Ras protein. HrasKI mice produce undetectable amounts of K-Ras but-in contrast to mice homozygous for a null K-ras allele-they are born at the expected mendelian frequency, indicating that H-Ras can be substituted for K-Ras in embryonic development. However, adult HrasKI mice show dilated cardiomyopathy associated with arterial hypertension. Our results show that K-Ras can be replaced by H-Ras in its essential function in embryogenesis, and indicate that K-Ras has a unique role in cardiovascular homeostasis. 相似文献
58.
Olfactory sensitivity in tsetse flies: a daily rhythm 总被引:3,自引:0,他引:3
The diurnal tsetse Glossina morsitans morsitans bites especially in early
morning and late afternoon; around midday feeding is at a low. In
laboratory apparatus that measures the amount of locomotion under constant
conditions over the photophase, the flies display a similar patterning of
activity levels. The profile of daily rhythms for G. morsitans reported in
the literature includes a number of motor and sensory motor systems that
fluctuate cophasically. Lacking is a study on the patterning of the senses'
response levels. In this paper we present the first instance of a daily
modulation in the sense of smell. We stimulated the antennae with
concentration series of host-derived odours and measured the spiking rate
of cells at different times during the photophase. The
concentration-response curves suggest that the sensitivity of antennal
olfactory cells flows in parallel with the other daily rhythms. This was
also reflected in electroantennograms (EAGs). The electroantennography was
extended to G. fuscipes fuscipes, whose level of spontaneous locomotor
activity--instead of following a U- shaped pattern--rises gradually over
the photophase. Again, the EAGs appeared to parallel the species' locomotor
activity. What we believe happens is that the organism tones down the
sensitivity of its odour receptors during periods of anticipated inactivity
for reasons of economy.
相似文献
59.
60.