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31.
Arbour NC; Zlotogora J; Knowlton RG; Merin S; Rosenmann A; Kanis AB; Rokhlina T; Stone EM; Sheffield VC 《Human molecular genetics》1997,6(5):689-694
Achromatopsia is an autosomal recessive disease of the retina,
characterized clinically by an inability to distinguish colors, impaired
visual acuity, nystagmus and photophobia. A genome-wide search for linkage
was performed using an inbred Jewish kindred from Iran. To facilitate the
genome-wide search, we utilized a DNA pooling strategy which takes
advantage of the likelihood that the disease in this inbred kindred is
inherited by all affected individuals from a common founder. Equal molar
amounts of DNA from all affected individuals were pooled and used as the
PCR template for short tandem repeat polymorphic markers (STRPs). Pooled
DNA from unaffected members of the kindred was used as a control. A
reduction in the number of alleles in the affected versus control pool was
observed at several loci. Upon genotyping of individual family members,
significant linkage was established between the disease phenotype and
markers localized on chromosome 2. The highest LOD score observed was 5.4
(theta = 0). When four additional small unrelated families were genotyped,
the combined peak LOD score was 8.2. Analysis of recombinant chromosomes
revealed that the disease gene lies within a 30 cM interval which spans the
centromere. Additional fine-mapping studies identified a region of
homozygosity in all affected individuals, narrowing the region to 14 cM. A
candidate gene for achromatopsia was excluded from this disease interval by
radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an
essential first step in the identification of the disease-causing gene.
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Background
Tamoxifen, used as adjuvant therapy for carcinoma breast in postmenopausal women to prevent relapse has estrogenic effect on the endometrium.Methods
104 patients on tamoxifen for more than six months were subjected to a clinical examination and transvaginal sonography. Patients with endometrial thickness > 8 mm were further evaluated by hysteroscopy and endometrial biopsy.Results
35(34%) patients were symptomatic. The average endometrial thickness was 11.2 mm which correlated with duration of tamoxifen use. 27(48%) patients had abnormal hysteroscopic findings. 35 (63%) of endometrial biopsies revealed abnormal endometrium. One case of endometrial carcinoma was diagnosed. The results were statistically analysed. There is a significant association between symptomatic status and endometrial thickness and duration of tamoxifen use.Conclusion
All patients on long term tamoxifen should be annually screened for endometrial pathology.Key Words: Tamoxifen, Endometrium, Transvaginal sonography 相似文献36.
KATHLEEN B. SCANLON AB MSN LAWRENCE J. GRYLACK MD MOISES BORTEN MD 《Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG》1982,11(6):355-358
Placement of umbilical artery catheters was retrospectively reviewed in 181 newborns to evaluate random placement of catheter tip in the "high" position between T7 and T9 in the thoracic aorta of 127 infants and in the "low" position below 4 in the abdominal aorta of 54 infants. Group differences in gestational age, asphyxia, hypotension, respiratory disease, duration of catheterization, or infusate type were not significant. Cyanosis or blanching in the low extremities occurred in 67% of the "low" group and 21% of the "high" group ( P < .001). Hematuria occurred in 39% of the "low" group and 21% of the "high" group ( P < .05). High placement appears to have fewer complications. Prompt intervention by neonatal nurse practitioners can help reverse complications that occur during umbilical artery catheterizations. 相似文献
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产后出血的预防和处理指南 总被引:3,自引:0,他引:3
目的:为产后出血(PPH)的预防和临床处理作一综述,为临床医师提供预防和处理产后出血的指南。涉及方面:预防、适当干预、使其影响最小化的方法。结果:建立常规,便于临床医师鉴别可能的高危人群,一旦发生产后过多出血,可指导临床如何迅速处理。证据:遵循加拿大定期健康检查办公室制定的证据等级。评估:由产科专家完善。利弊和成本:评估子宫收缩药和其他积极处理措施的方便性、正确性、有效性和安全性。建议:根据证据的等级,本指南分等级列出了12条建议。确认:按照MeSH词表推荐的postpartum haemorrhage在medline上查询相关文献,在Cochrane图书馆查找相关研究文献,并参考the ALARMcourse Manual。发起人:由产科临床实践委员会制定和综述,并由SOGC(加拿大妇产科协会)委员会批准。 相似文献
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