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Nicola Flaum Emma J. Crosbie Richard J. Edmondson Miriam J. Smith Dafydd G. Evans 《Clinical genetics》2020,97(1):54-63
Ovarian cancer is the fourth most common cause of cancer-related death in women in the developed world, and one of the most heritable cancers. One of the most significant risk factors for epithelial ovarian cancer (EOC) is a family history of breast and/or ovarian cancer. Combined risk factors can be used in models to stratify risk of EOC, and aid in decisions regarding risk-reduction strategies. Germline pathogenic variants in EOC susceptibility genes including those involved in homologous recombination and mismatch repair pathways are present in approximately 22% to 25% of EOC. These genes are associated with an estimated lifetime risk of EOC of 13% to 60% for BRCA1 variants and 10% to 25% for BRCA2 variants, with lower risks associated with remaining genes. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) thought to explain an additional 6.4% of the familial risk of ovarian cancer, with 34 susceptibility loci identified to date. However, an unknown proportion of the genetic component of EOC risk remains unexplained. This review comprises an overview of individual genes and SNPs suspected to contribute to risk of EOC, and discusses use of a polygenic risk score to predict individual cancer risk more accurately. 相似文献
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Suzanne M. Gillespie Andrea L. Moser Murthy Gokula Thomas Edmondson Joseph Rees Dallas Nelson Steven M. Handler 《Journal of the American Medical Directors Association》2019,20(2):115-122
Objectives
This document offers guidance to clinicians and facilities on the use of telemedicine to deliver medically necessary evaluation and management of change of condition for nursing home residents.Settings and participants
Members of the telemedicine workgroup of AMDA—The Society for Post-Acute Long-Term Medicine-developed this guideline through both telephonic and face-to-face meetings between April 2017 and September 2018. The guideline is based on the currently available research, experience, and expertise of the workgroup's members, including a summary of a recently completed systematic mixed studies literature review to determine evidence for telemedicine to reduce emergency department visits or hospitalizations of nursing home residents.Results
Research and experience to date support the use of telemedicine as a tool in change of condition assessment and management as a means of reducing unnecessary emergency department visits and hospitalization. Telemedicine-delivered care should be integrated into the primary care of the resident and delivered by providers with competency in post-acute long-term care. The development and sustainability of telemedicine programs is heavily dependent on financial implications. Quality measures should be defined for telemedicine programs in nursing homes.Conclusions/Implications
Telemedicine programs in nursing homes can contribute to the delivery of timely, high quality medical care, which reduces unnecessary hospitalization. Reimbursement for telemedicine-driven care should be based upon medical necessity of visits to care and the maintenance of quality standards. More studies are needed to understand which telemedicine tools and processes are most effective in improving outcomes for nursing home residents. 相似文献5.
R G Rees J J Payne-James C King D B Silk 《JPEN. Journal of parenteral and enteral nutrition》1988,12(5):469-472
Certain groups of patients requiring enteral nutritional support are at increased risk of regurgitation and pulmonary aspiration of feed. Positioning of enteral feeding tubes distal to the pylorus has been advocated as a method of reducing such complications. Various techniques have been suggested to achieve postpyloric siting. Reports have indicated that lengthening the tube or altering the distal end tip configuration, by varying the tip profile or by the addition of a weight, may facilitate spontaneous transpyloric passage of the tube. This prospective controlled clinical study using three new polyurethane tubes demonstrates that the frequency of spontaneous transpyloric passage of the tube is not affected by tip profile or by the addition of a weight. Indeed, with all three tube designs only about one-third had passed spontaneously through the pylorus at 24 hr. Once through the pylorus the unweighted tube stayed in position significantly longer than the weighted tubes (p less than 0.005). We suggest that in those patients requiring post-pyloric feeding, endoscopic or fluoroscopic techniques should be used to position the tubes at the time of insertion, and that an unweighted tube should be used to prolong tube usage. 相似文献
6.
D. L. Crosby G. A. Rees J. Gill 《Annals of the Royal College of Surgeons of England》1990,72(5):309-312
The current experience of a high dependency unit established 5 years ago for the postoperative care of high-risk patients undergoing surgery is reported. The resource implications and contributions to the safety and quality of post-operative care, particularly pain relief, are described. 相似文献
7.
Structure of the reaction center from Rhodobacter sphaeroides R-26: the cofactors. 总被引:33,自引:25,他引:8 下载免费PDF全文
J P Allen G Feher T O Yeates H Komiya D C Rees 《Proceedings of the National Academy of Sciences of the United States of America》1987,84(16):5730-5734
The three-dimensional structure of the cofactors of the reaction center of Rhodobacter sphaeroides R-26 has been determined by x-ray diffraction and refined at a resolution of 2.8 A with an R value of 26%. The main features of the structure are similar to the ones determined for Rhodopseudomonas viridis [Michel, H., Epp, O. & Deisenhofer, J. (1986) EMBO J. 5, 2445-2451]. The cofactors are arranged along two branches, which are approximately related to each other by a 2-fold symmetry axis. The structure is well suited to produce light-induced charge separation across the membrane. Most of the structural features predicted from physical and biochemical measurements are confirmed by the x-ray structure. 相似文献
8.
Quantitative autoradiographic analysis was used to identify regions in the brain of the male primate where androgen binding sites may be involved in the actions of testosterone. Three days after castration, adult male rhesus monkeys received a subcutaneous injection of either dihydrotestosterone propionate (DHTP, 20 mg, n = 6), testosterone propionate (TP, 100 mg, n = 2), or oil vehicle (control males, n = 4). Three hours later, 5 mCi [3H]testosterone was administered as an i.v. bolus. At 60 min, brains were rapidly removed and the left halves were used for autoradiography. In control males, highest percentages of labeled neurons (20-84% using a rigorous Poisson criterion) were observed in the ventromedial, arcuate and premammillary nuclei (n.) of the hypothalamus, medial preoptic n., bed n. of stria terminalis, intercalated mammillary n., lateral septal n. and the medial, cortical and accessory basal n. of the amygdala. Pretreatment with DHTP eliminated labeling in androgen target tissues of the genital tract, and reduced the percentages of labeled neurons to 4-22% of control values in the arcuate, lateral septal, premammillary and intercalated mammillary n., indicating that in these regions testosterone acted predominantly at androgen binding sites. However, in the medial preoptic n., the ventromedial hypothalamic n. and the accessory basal amygdaloid n., DHTP pretreatment resulted in much less blocking which, together with other data, suggested that in these sites, testosterone's actions involved aromatization and interaction with estrogen-binding sites. 相似文献
9.
S. Tsagarakis Feng Ge L. H. Rees G. M. Besser A. Grossman 《Journal of neuroendocrinology》1989,1(2):129-133
While extensive evidence suggests that adrenoceptors play an important role in the control of growth hormone in the rat, there are few studies involving the direct measurement of growth hormone-releasing hormone (GHRH). We have therefore developed a radioimmunoassay for rat GHRH, and used it to investigate the modulation of GHRH release by noradrenaline from incubated rat hypothalamus in vitro. The GHRH radioimmunoassay had no significant cross-reactivity with other hypothalamic or GHRH-related peptides, and was sensitive to 4 pg/tube; intra- and interassay coefficients of variation were 6% and 12% respectively. Single incubated rat hypothalami produced a stable and readily measurable output of GHRH in successive 20 min incubations after an initial 60 min preincubation; the release of GHRH was increased in the presence of 56 mM KCI, but did not respond to KCI-depolarization when calcium was excluded from the medium. Stimulated GHRH release was identical to synthetic rat GHRH(1–43) on high-performance liquid chromatography and Sephadex G-75 chromatography.
Noradrenaline stimulated GHRH secretion in a dose-dependent manner in the concentration range 10−10 — 10−6 M, with a plateau in response at 10−7 M. Stimulation with noradrenaline 10−7 M was blocked by idazoxan 10−5 M and attenuated by thymoxamine 10−5 M, but was unaffected by timolol 10−5 M. Both the α2 -adrenoceptor agonist guanfacine, and the α1 -adrenoceptor agonist methoxamine, specifically stimulated GHRH secretion.
It is concluded that noradrenaline stimulates the release of GHRH at both α1 and α2 -adrenoceptors. 相似文献
Noradrenaline stimulated GHRH secretion in a dose-dependent manner in the concentration range 10
It is concluded that noradrenaline stimulates the release of GHRH at both α
10.
Four behavioural tests have been used to study the antinociceptive effects of electrical stimulation of the anterior pretectal nucleus (APtN) in the rat. The antinociceptive effects of stimulating this nucleus, which lies dorsally in the posterior diencephalon, have recently been studied extensively but always using briefly applied heat stimuli. It is reported here that APtN stimulation effectively inhibited responses to briefly applied noxious pressure and longer-lasting noxious chemical (formalin) stimuli. Although the tail-flick reflex to noxious heat was very potently depressed by APtN stimulation, responses to noxious heat in the hot-plate test were not. Three doses of morphine were also studied with each test and it was concluded that 15 sec of 35 microA r.m.s. current into the APtN was as effective as 3-5 mg/kg morphine s.c. in the rat. 相似文献