Improved estimates of discordance ratios in twin studies

In the study of monozygotic twins relative to disease and risk factors, particular interest focuses on the subset who are discordant for some suspected risk factor (for example, smoking), since such twins constitute a natural case-control pair. In such studies, questionnaires designed to identify the status of all twin pairs are sometimes error prone and can yield misleading estimates of the concordance-discordance ratios. Greater efforts to verify the characteristics of apparently discordant pairs than to verify those of apparently concordant pairs can result in the 'unequal ascertainment' fallacy. Using the results of a questionnaire with known error rates and the 'apparent' frequencies yielded, we present unbiased, maximum likelihood estimates of the 'true' proportions of concordant and discordant pairs. concordant and discordant pairs. We also present approximate covariances among these estimates.     

胫骨延长后骨痂直径与新生骨预后关系的临床分析

目的探讨胫骨延长后骨痂直径与新生骨预后的关系.方法 1996年1月～2001年12月,对68例胫骨延长者测量达所需延长长度时的骨痂直径,计算骨痂直径率(callus diameter ratios,CDR);统计拆除外固定架后2～4周时新生骨发生骨折例数及畸形角度,比较骨折和成角畸形与CDR的关系.结果拆除外固定架前胫骨前屈角度5度以上畸形19例,其中11例发生骨折;拆除外固定架后胫骨出现5度以上畸形6例,其中2例骨折;其余43例胫骨延长骨痂正常愈合.计算CDR值:CDR值小于80% 23例,其中发生新生骨骨折13例,成角畸形5度以上者21例;CDR在81%～85%之间6例,成角畸形5度以上4例;CDR值超过86% 39例,无畸形或新生骨骨折.结论胫骨延长时CDR小于80%时,容易发生新生骨骨折和畸形;CDR大于85%时,无新生骨骨折和畸形发生;两组间具有统计学意义(P＜0.05).CDR是判断骨痂能否正常愈合较为理想的检测指标.     

用稳定性同位素~(58)Fe中子活化法测定缺铁性贫血儿童膳食铁吸收率

本文报告了应用稳定性同位素~(58)Fe对三组缺铁性贫血儿童,分别摄取平衡膳、平衡膳加大豆蛋白膳和平衡膳加大豆蛋白加维生素C膳时,各组儿童膳食铁的吸收率。测定结果顺次分别为12.0±3.6％、10.7±4.7％和18.1±3.6％。后者高于前二者,差异显著。据此,作者同意国际营养性贫血咨询小组(INACG)以及大多数学者的主张,即大豆制品不利于或降低膳食铁的生物利用率(bioavailability)。本文并结合实验讨论了本法的原理、操作技术及误差控制等问题,评价了本法在类似工作中的重要意义。     

The profile and incidence of cancer in Down syndrome

Background Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. Methods A profile of cancer cases among people with Down syndrome has been compiled, based on the analysis of a linked data set that included information from the Disability Services Commission of Western Australian and the State Cancer Registry. Results and conclusions Although the total age‐ and sex‐standardized incidence ratios (SIRs) for people with Down syndrome were similar to that for the general population, SIRs for leukaemia were significantly higher while the incidence of certain other types of cancers was reduced. Overall, there was a lower incidence of solid tumours in Down syndrome, possibly reflecting the age profile of the study cohort.     

Pharmacokinetics of orally administered hexobarbital in plasma and saliva of healthy subjects

Hexobarbital (HB) concentrations were determined in plasma and saliva of 8 healthy subjects, following oral administration of 500 mg HB-Na. Mean plasma half-lives were 3.2 +/- 0.1 h, and salivary half-lives 3.3 +/- 0.2 h. Mean plasma clearance was 22.9 +/- 2.3 1 h-1. There was a linear relationship between HB concentrations in saliva and plasma (r = 0.92). Mean salivary levels were 34 per cent of plasma levels. Salivary pH was constant throughout the experiment, 7.06 +/- 0.09. There was an inconsistent tendency of the saliva over plasma ratios to increase as a function of time. The percentage of protein binding calculated from saliva over plasma ratios was in reasonable agreement with in vitro data of equilibrium dialysis, 64.1 +/- 2.6 per cent and 65.9 +/- 0.8 per cent, respectively. The experiment was repeated in 4 subjects, and considerable intraindividual differences were shown to exist in saliva over plasma ratio, half-lives, and protein binding. It was concluded that HB elimination half-lives can relatively accurately be determined from salivary concentrations. Oral plasma clearance can only be estimated if the individual saliva over plasma ratios are known; this would require the taking of at least one blood sample during the experiment. When employing HB as a model substrate for drug metabolizing enzyme activity in vivo, the determination of its pharmacokinetic parameters, particularly oral plasma clearance as a reflection of cytochrome P-450 activity, cannot be achieved by taking saliva samples only.     

Contrasting mutation rates in mitochondrial and nuclear genes of yeasts versus mammals

Summary Base substitutions have been compared in two mitochondrial and two nuclear genes from three yeasts and three mammals. In yeasts, the two mitochondrial genes, cytochrome oxidase subunit 2 (COX2) and apocytochrome b (CYB), have fewer changes on a percentage basis than the nuclear-encoded cytochrome c (CYC) gene. By contrast, in mammals, the same mitochondrial genes have more mutations than CYC on a percentage basis. Sequence comparisons of the nuclear small-subunit ribosomal RNA (nSSU) gene shows that there are more substitutions per unit length in the three yeasts than in the three mammals. This result suggests that although the yeasts are more distantly related than the mammals, their mitochondrial genes have accumulated fewer changes.     

山东农村儿童膳食中人体锌吸收率的测定

目的:测定山东农村儿童代表性膳食中锌(Zn)的人体吸收率。方法:模拟山东农村典型膳食模式,采用富集的天然低丰度稳定性同位素67Zn标记ZnCl2,使用热电离质谱法(TIMS)检测膳食和粪便中总锌含量与67Zn/68Zn比值,计算锌的真吸收率;使用原子吸收分光光度计穴AAS雪测定膳食与粪便的总锌,计算锌的表观吸收率。同时测定影响锌吸收的因子膳食脂肪、蛋白、植酸、纤维素和维生素C(Vc)的含量,计算日平均摄入量,将其结果与我国儿童每日推荐膳食营养素摄入量(RNIs)进行比较。结果:锌的真吸收率为(12.94±3.32)%,锌的表观吸收率为(22.37±1.59)%,两者差异有统计学意义(P<0.05)。锌的平均日摄入量为11.16mg,占RNI的111.6%,高于推荐量。蛋白质和Vc的日摄入量分别为31.2g与13.3mg,占RNIs的56.73%和29.60%,低于推荐量。脂肪、植酸和膳食纤维的日摄入量较高。结论:在蛋白质和Vc的日摄入量较低,脂肪、植酸和膳食纤维的日摄入量较高的条件下,锌的真吸收率较低。