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71.
Debelenko LV; Brambilla E; Agarwal SK; Swalwell JI; Kester MB; Lubensky IA; Zhuang Z; Guru SC; Manickam P; Olufemi SE; Chandrasekharappa SC; Crabtree JS; Kim YS; Heppner C; Burns AL; Spiegel AM; Marx SJ; Liotta LA; Collins FS; Travis WD; Emmert-Buck MR 《Human molecular genetics》1997,6(13):2285-2290
Lung carcinoids occur sporadically and rarely in association with multiple
endocrine neoplasia type 1 (MEN1). There are no well defined genetic
abnormalities known to occur in these tumors. We studied 11 sporadic lung
carcinoids for loss of heterozygosity (LOH) at the locus of the MEN1 gene
on chromosome 11q13, and for mutations of the MEN1 gene using dideoxy
fingerprinting. Additionally, a lung carcinoid from a MEN1 patient was
studied. In four of 11 (36%) sporadic tumors, both copies of the MEN1 gene
were inactivated. All four tumors showed the presence of a MEN1 gene
mutation and loss of the other allele. Observed mutations included a 1 bp
insertion, a 1 bp deletion, a 13 bp deletion and a single nucleotide
substitution affecting a donor splice site. Each mutation predicts
truncation or potentially complete loss of menin. The remaining seven
tumors showed neither the presence of a MEN1 gene mutation nor 11q13 LOH.
The tumor from the MEN1 patient showed LOH at chromosome 11q13 and a
complex germline MEN1 gene mutation. The data implicate the MEN1 gene in
the pathogenesis of sporadic lung carcinoids, representing the first
defined genetic alteration in these tumors.
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72.
Real‐world medical costs of antiviral therapy among patients with chronic HCV infection and advanced hepatic fibrosis 下载免费PDF全文
73.
目的:探讨经颅多谱勒超声(TCD)在颈椎病(椎动脉型)所致位置性缺血性眩晕中的诊断价值.方法:利用TCD对颈椎病所致位置性缺血性眩晕76例患者进行双侧大脑后动脉(PCA)的平均血流速度分析,并结合转颈试验,探测双侧PCA平均血流速的动态变化情况.结果:颈椎病所致位置性缺血性眩晕患者当头侧向转动时,双侧PCA的平均血流速度暂时性降低,当头转回中立位时,平均血流速度逐渐回升.结论:TCD有助于识别位置性眩晕中的真性位置性缺血患者,是一种无创、简便、价廉、可靠,并可床旁操作和提供实时动态血流动力学资料的重要检查方法. 相似文献
74.
内蒙古自治区智力残疾现患率调查及病因分析 总被引:1,自引:0,他引:1
目的:了解内蒙古自治区智力残疾(mental retardation.MR)的现患率及其分布特点,分析其主要致残原因构成特点,探讨预防治疗措施。方法:采用概率比例、多阶段分层整群抽样方法进行现况调查及病例对照研究,根据年龄分别使用丹佛发育筛查测验及《7岁以上人群残疾筛查问卷》筛查,分别使用Gesell发育诊断量表及韦氏儿童智力量表简式(WISC-CR),韦氏成人智力量表简式(WAIS-RC)进行智力诊断,采用SPSS11.0软件对数据进行统计分析。结果:①内蒙古自治区智力残疾患者的现患率为4.95‰,男性MR现患率高于女性(χ2=6.28,df=1,P<0.05),农村MR的现患率明显高于城市(χ2=60.035,df=1,P<0.01)。②内蒙古自治区智力残疾致残原因以疾病(29.26%)和遗传因素(23.79%)为主。③在18岁之前(智力发育期)发现智力残疾的占74.53%,且以0~3岁发现智力残疾的人数比例最高(48.84%)。结论:智力残疾的防治重点应在农村,预防应以疾病(主要包括脑疾病、内分泌障碍、惊厥性疾病)及遗传因素为主。强调早期发现、早期干预。 相似文献
75.
CARLO LA VECCHIA SILVIA FRANCESCHI FABIO PARAZZINI ELENA COLOMBO FABIO COLOMBO ALESSANDRO LIBERATI COSTANTINO MANGIONI 《BJOG : an international journal of obstetrics and gynaecology》1983,90(7):654-661
Summary. Between 1970 and 1976, 290 patients with endometrial cancer were treated at the 1st Obstetrics and Gynecology Clinic of the University of Milan. The median age was 62 years. Surgery was completed in 262 (90.3%) patients. Abdominal hysterectomy was used in 158 (70.9%) stage I and 40 (71.4%) stage II/III patients; vaginal hysterectomy in 55 (24.7%) stage I and nine (16.1%) stage II/III patients. Resection of the upper vagina was performed in 168 patients. Postoperative external beam radiotherapy was used in stage II/III patients and in 44 (19.7%) stage I high-risk patients. Ten-year survival, determined by the life-table method, was 84.8% in stage I (223 patients), 53.4% in stage II (37 patients), 64.4% in stage III (19 patients), and 9.1% in stage IV (11 patients). Factors associated with poorer prognosis were: late age at diagnosis (P<0.001); deep myometrial invasion (P<0.001); poorly differentiated histological grade ( P =0.11); lack of resection of the upper vagina ( P = 0.13). The role and importance of surgery is discussed, with special emphasis on the selective use of the vaginal route in aged, obese and medically high-risk patients. 相似文献
76.
LA Cox 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S406):84-85
A series of hand and wrist radiographs was assessed manually by two individuals and by a fully automated computer system for determining bone age. Assessments were repeated after 1 month to determine variability between and within the methods of bone age assessment. There was slight intra-observer variation, but complete reproducibility when assessments were made by computer. The variation between the human assessors was less than that between human and computer assessments. The difference between overall maturity scores made by the human observer and the computer system was, however, acceptably small, and the majority of assessments were the same. It is concluded this computer system for assessing bone age in normal children is reliable and accurate, but that it needs to be validated against a much larger set of radiographs. 相似文献
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