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31.
32.
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.
相似文献
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止泻散敷脐治疗婴幼儿腹泻100例 总被引:1,自引:1,他引:0
0 引言 腹泻乃小儿最常见病 ,尤以 2岁以下婴幼儿最为常见 .年龄越小 ,发病率越高 ,且多在夏、秋季发病 .小儿患病后惧怕打针 ,服药以及输液 ,给治疗带来一些困难 . 12 a来 ,我们用自拟的止泻散敷脐治疗婴幼儿泄泻 ,效果良好 .1 对象和方法1.1 对象 1998- 0 6 / 1999- 10婴幼儿腹泻发病高峰期门诊病例 10 0 (男 6 6 ,女 34 )例 ,年龄 2月龄~ 5岁 .肠炎 5 8例 ,单纯消化不良 42例 . 6 7例曾多次治疗 ,33例初诊 .凡接受治疗之患儿 ,一律停止用其他药物 .1.2 方法 药物组成 :川椒 12 g,干姜 12 g,小茴香 12 g,白芷 2 0 g,吴茱萸 5 g,… 相似文献
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Lang T Ducimetière P Arveiler D Amouyel P Ferrières J Ruidavets JB Montaye M Haas B Bingham A 《International journal of epidemiology》1999,28(6):1050-1058
OBJECTIVES: To assess whether different definitions of acute coronary events yielded concordant results concerning trends and geographical disparities in coronary heart disease (CHD) mortality and morbidity in France. STUDY DESIGN: Data from three French CHD registries participating in the WHO MONICA Project during the period 1985-1992. SETTING: Three areas of about one million inhabitants each in the North, South and East of France. SUBJECTS: About 2,000 acute coronary events each year. MAIN OUTCOME MEASURES: Mortality, annual rate of fatal and non-fatal events, incidence of first and recurrent events, case-fatality rates. RESULTS: For incidence and mortality, the broader the broader the definition of the acute event, the higher the reported rates. The same tendency was not observed for case-fatality rates. Comparing between-registry rates for mortality, 28-day case-fatality and hospital case fatality yielded relatively concordant results whatever the definition of event. As a whole, the higher mortality rate in Lille and its intermediate rank in Strasbourg were related more to disparities in case-fatality rates, with only small variations in incidence rates, independently of the definition used. Comparing temporal trends in rates within and between regions, a consistent decrease in annual mortality rates and case-fatality rates was observed, whatever the definition. In contrast, the incidence of non-fatal probable myocardial infarction did not change during the period in any register. CONCLUSIONS: Although the absolute estimates of rates were variable with the definition of the event, major findings in relation to trends and geographical disparities were fairly consistent across the definitions: the North-South gradient in mortality observed in France was found to be much more pronounced for case fatality than for incidence. The proportion of milder acute myocardial infarction is currently increasing and this element should be taken into account when analysing CHD rates. 相似文献
37.
R. Moore J. F. T. Glasgow M. A. Bingham J. A. Dodge R. J. Pollitt S. E. Olpin B. Middleton K. Carpenter 《European journal of pediatrics》1993,152(5):433-436
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD), the third enzyme of the mitochondrial -oxidation pathway, carries out the dehydrogenation of 3-hydroxyacyl-CoA compounds of 12–18 carbon length. To date only nine cases of LCHAD deficiency have been documented. We report a further patient who as a neonate developed non-specific gastro-intestinal symptoms and at 5 months of age cardiomyopathy, recurrent hypoketotic hypoglycaemia and gross alterations of plasma carnitine fractions. Dietary management with medium chain triglycerides led rapidly to clinical improvement. There was a close correlation between the clinical condition, plasma carnitine fractions and cardiac function. At 2 years of age she is developing normally. 相似文献
38.
Blow FC Ullman E Barry KL Bingham CR Copeland LA McCormick R Van Stone W 《The American journal of orthopsychiatry》2000,70(3):389-400
This is the first study to test concurrently the effectiveness of four treatment programs for patients with serious mental illness. Three-year outcome data on utilization and functioning demonstrated important positive changes for seriously mentally ill veterans enrolled in specialized, enhanced inpatient and community case management treatment programs, when compared to patients in an enhanced day treatment program or traditional standard care. 相似文献
39.
Objective: To evaluate the incidence and severity of apnoea and bradycardia in hospitalized preterm infants following immunization at 2 months of age, and identify risk factors.
Methodology: A prospective study of 98 preterm infants, of gestational age 24–31 weeks, immunized at approximately 2 months post natal age with diphtheria-tetanus-whole cell pertussis vaccine (DTPw ) in the neonatal intensive care unit (NICU) at King George V Hospital Sydney. Half the infants also received Haemophilus influenzae type b conjugate vaccine (Hib) simultaneously. All infants were monitored for apnoea and bradycardia in the 24 h periods pre- and post immunization.
Results: Only one infant had apnoea and/or bradycardia pre-immunization compared with 17 post immunization. For 12 infants these events were brief, self-limiting and not associated with desaturations (oxygen saturation <90%). However, for five infants (30%) these events were associated with oxygen desaturation and two of these infants required supplemental oxygen. The group that had apnoea and/or bradycardia and the group that did not were not significantly different in terms of gestational age, birth weight and other variables. Infants who received Hib together with DTPw were less likely to have apnoea and/or bradycardia than those given DTPw alone.
Conclusion: When considering immunization for preterm infants, the benefits of early immunization must be balanced against the risk of apnoea and bradycardia. We recommend that the cardio-respiratory function of hospitalized infants born at less than 31 weeks gestation be monitored for 48 h post immunization. 相似文献
Methodology: A prospective study of 98 preterm infants, of gestational age 24–31 weeks, immunized at approximately 2 months post natal age with diphtheria-tetanus-whole cell pertussis vaccine (DTP
Results: Only one infant had apnoea and/or bradycardia pre-immunization compared with 17 post immunization. For 12 infants these events were brief, self-limiting and not associated with desaturations (oxygen saturation <90%). However, for five infants (30%) these events were associated with oxygen desaturation and two of these infants required supplemental oxygen. The group that had apnoea and/or bradycardia and the group that did not were not significantly different in terms of gestational age, birth weight and other variables. Infants who received Hib together with DTP
Conclusion: When considering immunization for preterm infants, the benefits of early immunization must be balanced against the risk of apnoea and bradycardia. We recommend that the cardio-respiratory function of hospitalized infants born at less than 31 weeks gestation be monitored for 48 h post immunization. 相似文献
40.
A diet history method for estimating energy and N intakes was validated against 24 h urinary N excretion and energy expenditure measured by the doubly-labelled water (DLW) method. Forty-eight women aged 50-65 years were studied over 1 year. Weighed diet records from 4 d and two 24 h urine collections, for measurement of urinary N excretion, were obtained in each of four seasons. At the end of the year, a diet history was obtained, BMR was measured by whole-body calorimetry, and, in sixteen women, total energy expenditure (EE) was measured by DLW. Energy intake (EI) and N intake (NI) were calculated using food tables. Using weighed records and diet history respectively mean NI were 11.21 (SD 2.09) g and 11.47 (SD 2.40) g (NS) and EI were 8.08 (SD 1.54) MJ and 8.20 (SD 1.86) MJ (NS). Mean urine N:NI and EI:BMR values indicated bias to under-reporting by weighed record and diet history techniques in some individuals, but there was no significant difference between these measures at the group level. The Pearson correlation coefficient (r) for urine N v. NI was 0.81 for the weighed record and 0.38 for the diet history. The correlation of EE v. EI was r 0.48 for weighed record and r 0.11 for diet history. In this study the diet history gave the same estimate of mean intake, but the weighed record appeared to perform better in ranking individuals. 相似文献