8例Turner综合征临床分析

目的:提高临床医生对Turner综合征的认识。方法:分析Turner综合征临床和辅助检查特点。结果:所有患者都有矮小,乳房发育不良或不发育,同时伴有黑痣增多5例,发际低5例,眼裂不等大1例,眼睑下垂4例,鼻梁低平2例,颈蹼4例,乳头间距明显增宽5例,明显肘外翻4例。性腺BUS:2例子宫、卵巢发育不良,3例子宫卵巢显示不清,3例子宫、卵巢未显示。染色体核型分析:45,XO4例;45XO/46XX2例;46,X,i(Xq)1例;46,X,del(Xq)1例。骨龄:8例均提示骨龄落后,平均1～3年。其中2例有第4掌骨短小。生长激素激发试验:1例激发试验生长激素水平正常,5例生长激素部分缺乏,2例生长激素完全缺乏。结论:Turner综合征具有典型的临床特点,临床发病率高,提高对本病认识,及时进行染色体核型分析可以确诊。早期诊断、及时治疗对增加患者终身高,提高Turner综合征患者的生活质量有重要意义。     

Turner综合征的实验室检查及临床特征研究

目的:探讨Turner综合征的染色体核型异常与躯体发育异常、卵巢发育不全、性激素分泌异常、身材矮小及骨龄落后的关系。方法:对22例Turner综合征患儿进行染色体、性激素、促性腺激素、骨龄、B超检查及身高评价。结果:染色体核型异常,患儿身材矮小或存在各种躯体畸形;B超检查患儿无子宫和/或卵巢声像,或与正常儿童相比,子宫、卵巢的发育明显落后(P<0.01);患儿血E2降低,促性腺激素升高(P<0.01),骨龄落后(2.4±1.5)岁,身高的标准差积分为-3.9±1.2。结论:Turner综合征的染色体核型与患儿临床表现有关,身材矮小和骨龄落后可能与SHOX基因缺失、雌激素缺乏、生长激素缺乏及甲状腺功能低下等有关;X染色体异常导致患儿卵巢发育不全,并使体内性激素水平异常。     

14例Turner综合征细胞遗传学临床分析

目的:通过对Turner综合征患者的临床遗传学分析,探讨X染色体异常与女性生长迟缓、性发育不良、特殊身躯特征的关系。方法:对14例Turner综合征患者进行多项临床检查;常规外周血淋巴细胞培养方法制备染色体标本,G显带技术进行细胞遗传学分析;病因和误诊原因分析。结果:14例患者中单体型8例,嵌合体型2例,结构异常型4例;女性只有存在两条完整的X染色体,才能有正常女性性腺和性征发育;女性正常身高发育与X染色体短臂上的基因相关。结论:Turner综合征是引发女性身材矮小、原发闭经、副性征发育不良及不孕最常见的染色体异常;对患者进行生理治疗的同时也要进行心理治疗。     

儿童性染色体异常的研究

目的:研究儿童性染色体异常及产前诊断性染色体异常。方法:采用外周血染色体G带核型分析、荧光原位杂交(FISH)技术对62例儿童性染色体异常患儿进行分析。结果:62例儿童性染色体异常中,Turner氏综合征31例,3X综合征1例;真两性畸形3例,女性假两性畸形11例,男性假两性畸形4例;XXY综合征3例,XYY综合征3例,46,X,del(Yq)2例,男性Turner氏综合征1例,49,XXXXY1例,92,XXYY/46,XY1例。结论:Turner氏综合征是儿童性染色体异常中最常见的类型。应用染色体核型分析和荧光原位杂交技术,同时结合围产期超声检查进行产前诊断,可筛选性染色体异常患儿。     

脆性X综合征12例分析

脆性 X综合征〔fra( X)〕由于在儿童期缺乏典型的临床特征 ,且遗传方式独特 ,极易漏诊。因此 ,我们对因智力低下做染色体检查的患儿 ,不论其是否具备脆性 X综合征的临床表现 ,均进行染色体脆性部位的检查 ,共计 2 4 2例 ,检出阳性患儿 13例 ,确诊 12例。1　对象与方法1.1　对象。1990年 1月～ 1999年 12月来自儿保遗传咨询门诊及学习困难门诊的智力低下儿童 ,剔除产科因素 ,代谢性疾病 ,Down氏综合征及 Turner氏综合征共 2 4 2例 ,男 172例 ,女 70例。1.2　方法。取外周血 0 .5ml肝素抗凝 ,加入含 5%小牛血清的 TC199培养液中 ,37℃恒温…     

性染色体型性发育异常的遗传学分析及临床意义

目的探讨不同类型性染色体型性发育异常(DSD)患者的遗传学改变及临床意义。方法选取西安交通大学第一附属医院356例性染色体型DSD患者进行G显带染色体分析,对其中18例45,X/46,XY嵌合体者进行Y染色体微缺失检测。结果356例染色体型DSD患者中,克氏综合征(KS)210例,Turner综合征(TS)124例,47,XYY综合征8例,47,XXX综合征8例,45,X/46,XY男性3例,Y染色体结构异常3例。18例45,X/46,XY患者中,3例存在微缺失,其中AZFc位点缺失2例,AZFa+b+c位点缺失1例。结论染色体型DSD以克氏综合征最常见,其次为Turner综合征。对45,X/46,XY男性患者进行Y染色体微缺失检测,有助于明确病因和选择更优的辅助生殖技术方案,实现优生优育。     

妊娠早期非Down综合征非整倍体染色体筛查中PAPP-A的参考值

三项联合筛查方法是在妊娠早期诊断Down综合征的常用方法,即妊娠相关血浆蛋白A(PAPP-A),游离β人绒毛膜促性腺激素(β-hCG)和颈项部透明度(NT)。但是否这3项检查能囊括主要染色体疾病呢?研究发现一些单一低水平PAPP-A值而其它两项正常的染色体疾病被漏诊。自1998年1月～1999年12月用3项指标筛查1408例患者,平均年龄33.3岁;其中102例阳性,在筛查阳性者中14例(14％)染色体异常,包括2例21三体,2例18三体,2例13三体,2例Turner综合征,1例Klinefelter综合征,1例3X,1例环形Y染色体,1例嵌合18三体,1例Turner嵌合体和1例7q染色体缺失。而在筛查阴性的1306例中,用ROC(Receiver-Op-     

柳州地区31例Turner综合征患儿临床分析

【目的】 分析和探讨Turner综合征染色体核型与临床特征的关系。 【方法】 对31例自2007年1月-2011年11月期间来柳州市妇幼保健院儿童保健科生长发育专科就诊的确诊为Turner综合征患儿临床资料进行回顾性分析。 【结果】 Turner综合征患儿的临床表现主要为身材矮小、青春发育年龄无第二性征发育或发育不良等,最常见的染色体核型为45,X且该核型患儿子宫卵巢发育较其它核型差。 【结论】 Turner综合征患儿的临床表现各异,对因生长迟缓、矮小就诊的女性患儿进行染色体检查很有必要。     

新生儿染色体病41例临床分析

目的探讨新生儿期常见染色体病核型、临床表现及预防措施。方法对2005年1月～2010年12月在某院住院的41例染色体病患儿母亲围生期并发症、高危因素、患儿临床表现、染色体核型进行回顾性分析。结果41例中孕母有围生期并发症及高危因素者共17例。21-三体综合征29例,18三体综合征1例,猫叫综合征2例,Turner综合征1例,其他各型染色体核型异常8例。所有患儿均有特殊外貌和(或)体征,26例合并其他畸形或疾病,1例新生儿期夭折,1例9月大时死亡。结论新生儿期根据特殊外貌体征和染色体核型分析可诊断染色体病,高龄初产与染色体病存在着相关性。     

原发性闭经的染色体研究

本文对2891例遗传咨询患者中的20例原发性闭经患者,均作外周血淋巴细胞染色体核型分析,结果显示:20例原发性闭经患者中,染色体未见异常者13例(核型46,XX),染色体异常者7例,占35％。其中45,X 2例(属Turner综合征),47,XXX 1例,46,XY 2例,46,XY/46,XX 1例46,XX/46,X,del(X)(q22)1例。本文认为性染色体异常是原发性闭经的主要原因之一,讨论了某些原发性闭经的产前、婴幼儿期诊断及治疗的最佳时期的选择。     

Calcium intake in the elderly: validation of a dietary questionnaire

Epidemiological studies of calcium and osteoporosis have been hampered by the lack of a suitable tool for assessing calcium intake. This report describes a new frequency and amount questionnaire for measuring present and past calcium intake in the elderly. The validity of the questionnaire was tested against two commonly used standards of dietary assessment, five-day duplicate diets and seven-day weighed dietary inventories. The resulting correlation coefficients were, respectively, r = 0.76 and r = 0.69, while that for repeatability was r = 0.84. Furthermore, the questionnaire categorized subjects into thirds of the distribution of intake with almost no gross misclassification. It is suggested that the present findings may be extended to the majority of normal, healthy elderly subjects, implying wide application for the questionnaire in the assessment of calcium intake in the elderly.     

The occurrence of antimicrobial substances in toilet,sink and shower drainpipes of clinical units: A neglected source of antibiotic residues

Antibiotics represent one of the most important drug groups used in the management of bacterial infections in humans and animals. Due to the increasing problem of antibiotic resistance, assurance of the antibacterial effectiveness of these substances has moved into the focus of public health. The reduction in antibiotic residues in wastewater and the environment may play a decisive role in the development of increasing rates of antibiotic resistance. The present study examines the wastewater of 31 patient rooms of various German clinics for possible residues of antibiotics, as well as the wastewater of five private households as a reference.To the best of our knowledge, this study shows for the first time that in hospitals with high antibiotic consumption rates, residues of these drugs can be regularly detected in toilets, sink siphons and shower drains at concentrations ranging from 0.02?μg·L^?1 to a maximum of 79?mg·L^?1. After complete flushing of the wastewater siphons, antibiotics are no longer detectable, but after temporal stagnation, the concentration of the active substances in the water phases of respective siphons increases again, suggesting that antibiotics persist through the washing process in biofilms. This study demonstrates that clinical wastewater systems offer further possibilities for the optimization of antibiotic resistance surveillance.     

Self-reported health problems among Swedish miners one year after unemployment

Unemployment is considered to be a public health concern sincedeterioration in the health of the unemployed is often anticipated.However, for some groups, such as miners, unemployment mightimprove health due to a cessation of potentially harmful occupationalexposures. This study evaluates the health of 79 miners in oneSwedish iron-ore mine, and 226 age-matched controls from thegeneral population, during one year after the closure of themine. The participants received a questionnaire regarding medicalhistory and subjective symptoms at the beginning of the studyperiod, and after one year. Statistically significant negativeeffects on self-reported health attributable to unemploymentwere not found, although neuropsychiatric symptoms were morecommon among the unemployed miners. The miners reported a statisticallysignificant improvement in grip force (p=0.031). They had asignificantly higher prevalence of symptoms associated withmining related exposures when compared with the population controls;pain in the upper extremities [relative risk (RR)=2.27, 95%confidence interval (Cl)=1.44–3.59), back pain (RR=1.84;Cl=1.237–2.75), vasospastic disease of the fingers (RR=2.05;Cl=1.18–3.57) and obstructive respiratory symptoms (attacksof dyspnea and wheezing: RR=3.67; Cl=1.167–11.6).     

Excès de cas humains et animaux de tularémie en France au cours de l’hiver 2007–2008 : émergence ou phénomène isolé ?

Context

Tularemia is a zoonosis affecting humans and hares in France. We describe the results of surveillance in both species, in 2007 and 2008.

Methods

Human tularemia cases are mandatorily notifiable in France since 2003. In hares, surveillance relies on volunteer hunter associations in all districts of the country. Data from mandatory reports and volunteer surveillance in 2007/2008 were analyzed and compared with previous results.

Results

In 2007/2008, 144 cases were reported in humans and 117 cases in hares. This was a 100% increase compared to previous years. Human cases differed from those of previous years only by the frequency of contact with breeding animals. Human cases without any documented risk exposure were also more frequent.

Conclusion

An increase of tularemia cases occurred in 2007/2008 in both species. Complementary studies are needed to identify the species reservoir in France to understand the causes of this peak of cases.     

Occupational health hazards in mining: an overview

This review article outlines the physical, chemical, biological, ergonomic and psychosocial occupational health hazards of mining and associated metallurgical processes. Mining remains an important industrial sector in many parts of the world and although substantial progress has been made in the control of occupational health hazards, there remains room for further risk reduction. This applies particularly to traumatic injury hazards, ergonomic hazards and noise. Vigilance is also required to ensure exposures to coal dust and crystalline silica remain effectively controlled.     

Manufacture and use of nanomaterials: current status in the UK and global trends

This paper provides an overview of the production and use of nanomaterials (NMs), particularly in the UK. Currently, relatively few companies in the UK are identifiable as NM manufacturers, the main emphasis being the bulk markets in metals and metal oxides, and some niche markets such as carbon nanotubes and quantum dots. NM manufacturing in the UK does not reflect the global emphasis on fullerenes, nanotubes and fibres. Some assumptions have been made about the types of NM that are likely to be imported into the UK, which currently include fullerenes, modified fullerenes and other carbon-based NMs including nanotubes. Many university departments, spin-offs and private companies have developed processes for the manufacture of NMs but may only be producing small quantities for research and development (R&D) purposes. However, some have the potential to scale up to produce large quantities. The nanotechnology industry in the UK has strong R&D backup from universities and related institutions. This review has covered R&D trends at such institutions, and appropriate information has been added to a searchable database. While several companies are including NMs in their products, only a few (e.g. manufacturers of paints, coatings, cosmetics, catalysts, polymer composites) are using nanoparticles (NPs) in any significant quantities. However, this situation is likely to change rapidly. There is a need to collect more information about exposure to NPs in both manufacturing and user scenarios. As the market grows, and as manufacturers switch from the micro- to the nanoscale, the potential for exposure will increase. More research is required to quantify any risks to workers and consumers.     

深圳公立医院管理体制改革制度设计

深圳公立医院管理体制改革实行政事分开、管办分开,在理事会架构下按法定机构模式组建市医管中心,落实公立医院运营管理自主权.作者从当前公立医院管理体制的弊端入手,介绍了深圳市进行公立医院管理体制改革的基本思路及改革方案设计的主要举措,深入剖析了的改革方案的特点,并对改革效果进行了预测.     

Effects of nitrogen dioxide on red blood cells of rats: Changes in components of red cell membranes during in vivo exposure to NO2

Red cell membranes, prepared from red blood cells of rats exposed to 4, 10, or 20 ppm nitrogen dioxide (NO₂) for 1 to 10 days, were examined for evidence of changes in membrane components. Appreciable changes were not found in contents of phospholipid and cholesterol during exposure to 10 ppm NO₂. By contrast, protein content altered with the time of exposure. Moreover, changes in protein composition were observed by employing sodium dodecyl sulfate — polyacrylamide gel electrophoresis. Twenty-four-hour exposure to NO₂ at the concentration above 10 ppm resulted in a marked increase in the percentage of lysophosphatidylethanolamine (LysoPE) to the total phospholipids. The prolonged exposure to 10 ppm NO₂ gave rise to a further increase in LysoPE, whereas the percentage of phosphatidylethanolamine (PE) showed a gradual decrease. A 1-day exposure to 4.0 ppm NO₂ also caused an increase in sialic acid content and decreases in those of PE and hexose. In addition to contents of these components the percentage of LysoPE increased 5 days after exposure and the elevated values were maintained up to the end of exposure period. These results demonstrate that red blood cells in circulation exhibit different membrane properties in terms of lipid and carbohydrate composition during 10 days of exposure to 4.0 ppm NO₂.     

Investigating clusters in the workplace and beyond

Clusters of disease are common and occur in the workplace and in the general community. They often arouse considerable concern among the population. Investigations have sometimes lead to exciting new knowledge, but in general the investigation of clusters is difficult and often unrewarding, especially for community clusters. In the workplace, investigations are more likely to find associations and even new causes, but still many clusters remain enigmatic. Despite this, there are many reasons for investigating clusters, including allaying community concern and identifying uncontrolled exposures. A structure for investigating clusters in the workplace is suggested.