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排序方式: 共有380条查询结果,搜索用时 15 毫秒
1.
Yang GC; Croaker D; Zhang AL; Manglick P; Cartmill T; Cass D 《Human molecular genetics》1998,7(6):1047-1052
Lethal white foal syndrome (LWFS) is a congenital anomaly of horses
characterized by a white coat colour and aganglionosis of the bowel, which
is similar to Hirschsprung disease (HSCR). We decided to investigate
possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as
recent studies in mutant rodents and some patients have demonstrated EDNRB
defects. First, we identified a full-length cDNA for horse EDNRB . This
cDNA fragment contained a 1329 bp open reading frame which encoded 443
amino acid residues. The predicted amino acid sequence was 89, 91 and 85%
identical to human, bovine and mouse as well as rat EDNRB respectively, but
only 55% identical to the human, bovine and rat endothelin A receptor
(EDNRA). Secondly, sequence analysis, together with allele-specific PCR and
the amplification- created restriction site (ACRS) technique, revealed a
dinucleotide TC-- >AG mutation, which changed isoleucine to lysine in
the predicted first transmembrane domain of the EDNRB protein. This was
associated with LWFS when homozygous and with the overo phenotype when
heterozygous.
相似文献
2.
Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes 总被引:6,自引:0,他引:6
Objective To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children. Methods Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products. Results DRB1*0301, DQA1*0301, DQB1*0201 alleles and DRB1*0301-DQA1*0501-DQB1*0201 haplotype were significantly increased in patients, while DQA1*0103 and DQB1*0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients. Conclusions DRB1*0301, DQA1*0301 and DQB1*0201 confer susceptibility while DQA1*0103 and DQB1*0601 confer protection to type 1 diabetes. DRB1*0301-DQA1*0501-DQB1*0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up. 相似文献
3.
We report our clinical experience with phototherapy in 3802 infants; 3629 were exposed to "standard" daylight phototherapy and 173 to "high-intensity" blue-light phototherapy. High-intensity blue-light phototherapy was twice as effective as standard daylight phototherapy in decreasing bilirubin concentrations. No failures occurred with high-intensity phototherapy compared with an overall failure rate of 1.84/1000 with daylight lamps; these cases were transferred to high-intensity phototherapy with prompt response. Rebound after cessation of phototherapy was greater in those exposed to high-intensity blue light with a significantly greater number requiring a second exposure. However, the incidence was still low. No third exposure was required in any infant. Nursing of infants under high-intensity blue light was more difficult and inconvenient as was clinical monitoring. The light also caused more stress on the nursing and medical personnel. However, the infants tolerated both types of phototherapy equally well. High-intensity blue-light phototherapy would seem to be the treatment of choice for infants with rapidly increasing or very high bilirubin levels, as well as in those not responding adequately to daylight phototherapy. 相似文献
4.
Informed consent, parental awareness, and reasons for participating in a randomised controlled study
M van Stuijvenberg MH Suur S de Vos GC Tjiang EW Steyerberg G Derksen-Lubsen HA Moll 《Archives of disease in childhood》1998,79(2):120-125
BACKGROUND: The informed consent procedure plays a central role in randomised controlled trials but has only been explored in a few studies on children. AIM: To assess the quality of the informed consent process in a paediatric setting. METHODS: A questionnaire was sent to parents who volunteered their child (230 children) for a randomised, double blind, placebo controlled trial of ibuprofen syrup to prevent recurrent febrile seizures. RESULTS: 181 (79%) parents responded. On average, 73% of parents were aware of the major study characteristics. A few had difficulty understanding the information provided. Major factors in parents granting approval were the contribution to clinical science (51%) and benefit to the child (32%). Sociodemographic status did not influence initial participation but west European origin of the father was associated with willingness to participate in future trials. 89% of participants felt positive about the informed consent procedure; however, 25% stated that they felt obliged to participate. Although their reasons for granting approval and their evaluation of the informed consent procedure did not differ, relatively more were hesitant about participating in future. Parents appreciated the investigator being on call 24 hours a day (38%) and the extra medical care and information provided (37%) as advantages of participation. Disadvantages were mainly the time consuming aspects and the work involved (23%). CONCLUSIONS: Parents' understanding of trial characteristics might be improved by designing less difficult informed consent forms and by the investigator giving extra attention and information to non-west European parents. Adequate measures should be taken to avoid parents feeling obliged to participate, rather than giving true informed consent. 相似文献
5.
LC Diener JA Slyker C Gichuhi KA Tapia BA Richardson D Wamalwa C Farquhar J Overbaugh E Maleche-Obimbo G John-Stewart 《AIDS (London, England)》2012,26(15):1935-1941
OBJECTIVES:: Early infant HIV-1 diagnosis and treatment substantially improve survival. Where virologic HIV-1 testing is unavailable, integrated management of childhood illness (IMCI) clinical algorithms may be used for infant HIV-1 screening. We evaluated the performance of the 2008 WHO IMCI HIV algorithm in a cohort of HIV-exposed Kenyan infants. METHODS:: From 1999 to 2003, 444 infants had monthly clinical assessments and quarterly virologic HIV-1 testing. Using archived clinical data, IMCI sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated using virologic testing as a gold standard. Linear regression and survival analyses were used to determine the effect of age on IMCI performance and timing of diagnosis. RESULTS:: Overall IMCI sensitivity, specificity, PPV, and NPV value were 58, 87, 52, and 90%, respectively. Sensitivity (1.4%) and PPV (14%) were lowest at 1 month of age, when 81% of HIV infections already had occurred. Sensitivity increased with age (P?0.0001), but remained low throughout infancy (range 1.4-35%). Specificity (range 97-100%) was high at each time point and was not associated with age. Fifty-eight percent of HIV-1-infected infants (50 of 86) were eventually diagnosed by IMCI, and use of IMCI was estimated to delay diagnosis in HIV-infected infants by a median of 5.9 months (P?0.0001). CONCLUSION:: IMCI had low sensitivity during the first month of life, when the majority of HIV-1 infections had already occurred and initiation of treatment is most critical. Although sensitivity increased with age, the substantial delay in HIV-1 diagnosis using IMCI limits its utility in early infant HIV-1 diagnosis. 相似文献
6.
A monokine regulates colony-stimulating activity production by vascular endothelial cells 总被引:20,自引:0,他引:20
Human umbilical vein endothelial cells were cultured in supernatants of peripheral blood monocytes that had been cultured for 3 days with and without lactoferrin. Colony-stimulating activity (CSA) was measured in supernatants of the endothelial cell cultures and appropriate control cultures using normal, T-lymphocyte-depleted, phagocyte-depleted, low- density bone marrow cells in colony growth (CFU-GM) assays. Monocyte- conditioned medium contained a nondialyzable, heat labile factor that enhanced 4-15--fold the production of CSA by endothelial cells. The addition of lactoferrin to monocyte cultures reduced the activity of this monokine by 69%. Lactoferrin did not inhibit CSA production by monokine-stimulated endothelial cells. Therefore, vascular endothelial cells are potent sources of CSA, the production of CSA by these cells is regulated by a stimulatory monokine, and the production and/or release of the monokine is inhibited by lactoferrin, a neutrophil- derived putative feedback inhibitor of granulopoiesis. Inasmuch as a similar monokine is known to stimulate CSA production by fibroblasts and T lymphocytes, we suggest that mononuclear phagocytes play a pivotal role in the regulation of granulopoiesis by recruiting a variety of cell types to produce CSA. 相似文献
7.
Objective
The purpose of this study was to eliminate orthodontic treatment in mild to moderate cases of condylar hyperplasia in its early stages by condylectomy.Patients and methods
A total of five patients (two females and three males) aged between 17 and 40 years were treated with unilateral condylectomy of the involved side without orthodontic treatment. All patients underwent standardized clinical and radiological examination at initial consultation, before surgery, immediately after surgery, and follow-up. Objective and subjective evaluation of temporomandibular joint (TMJ) included maximal incisal opening, lateral excursions, correction of facial asymmetry, occlusal harmony, TMJ pain, and jaw function. Results were recorded at 5-year follow-up.Results
In all our cases, we achieved good mouth opening and near to normal occlusion. Good facial aesthetics was obtained after 3 months postoperative follow-up without secondary orthodontic treatment.Conclusion
Thus, we conclude that treatment of mild to moderate cases of unilateral condylar hyperplasia during the inactive phase can be treated with condylectomy without orthodontic treatment, and it significantly improves long-term surgical outcomes. 相似文献8.
9.
Vijay Narayan Grace John-Stewart George Gage Gabrielle O’Malley 《Human resources for health》2018,16(1):50
Background
Sierra Leone’s health outcomes rank among the worst in the world. A major challenge is the shortage of primary healthcare workers (HCWs) in rural areas due to especially high rates of attrition. This study was undertaken to determine the drivers of job dissatisfaction and poor retention among Sierra Leone’s rural HCWs.Methods
Interviews were conducted with 58 rural and 32 urban primary HCWs in Sierra Leone’s public health sector, complemented by key informant discussions and review of national policy documents. HCW interviews included (1) semi-structured discussion, (2) questionnaire, (3) card sort about HCW priorities, and (4) free-listing of most pressing challenges and needs. Sampling for HCW interviews was stratified purposive, emphasizing rural HCWs.Results
Among 90 HCWs interviewed, 67% were dissatisfied with their jobs (71% rural vs 52% urban) and 61% intended to leave their post (75% rural vs 38% urban). While working and living conditions and remuneration were significant factors, a major reason for rural HCW disenchantment was their inability to access worker rights, benefits, and advancement opportunities. This was caused by HCWs’ lack of knowledge about human resource (HR) policies and procedures, as well as ambiguity in many policies and inequitable implementation. HCWs reported feeling neglected and marginalized and perceived a lack of transparency. These issues can be attributed to the absence of systems for regular two-way communication between the Ministry of Health and HCWs; lack of official national documents with up-to-date, clear HR policies and procedures for HCWs; pay statements that do not provide a breakdown of financial allowances and withholdings; and lack of HCW induction.Conclusions
HCWs in Sierra Leone lacked accurate information about entitlements, policies, and procedures, and this was a driver of rural HCW job dissatisfaction and attrition. System-oriented, low-cost initiatives can address these underlying structural causes in Sierra Leone. These issues likely apply to other countries facing HCW retention challenges and should be considered in development of global HCW retention strategies.10.
Antony George Attokaran FRACP FCICM Mahesh Ramanan MMed FCICM Lisa Hunt MBBS Kavita Chandra MBBS Rajbir Sandha FACEM Stacey Watts RN BN GC Balasubramanian Venkatesh MD FCICM FAHMS 《Emergency medicine Australasia : EMA》2023,35(4):657-663