急性红白血病伴复杂染色体核型2例报告及文献分析

目的:分析2例急性红白血病伴复杂染色体核型的患者的临床特点.方法:收集2例急性红白血病患者的临床资料,分析其骨髓细胞彩色图像及骨髓病理、免疫分型、染色体检查结果.结果:2例患者均以全血细胞减少就诊,并根据骨髓细胞彩色图像及骨髓病理、免疫分型、染色体检查结果明确诊断为急性红白血病.病例1的染色体:47,XY,+1,del(6) (q21),add(7)(p15),add(20)(q12).病例2的染色体:62～65,XY,+1,+2,+2,+3,+3,+4,+6,+8,+10,+11,der(11)t(1;11)(q21;p15),+14,+15,+16,+17,+18,+18,+19,+20,+20,+21,+21,+22,+mar1.病例1给予DA、CAG、HHT方案化疗,均未缓解,3个月病死.病例2给予DA、CAG方案化疗,未缓解,2个月后家属要求出院,患者在家中病死.结论:急性红白血病患者的预后与其染色体核型密切相关,患者对化疗反应差,耐药率、死亡率高,预后极差,年轻的患者应尽早行骨髓移植.     

染色体核型高度复杂异常一例

目的探讨骨髓增生异常综合征(MDS)患者伴有高度复杂异常染色体的临床特点。方法报道1例骨髓增生异常综合征转化为急性白血病,并观察此类患者骨髓造血细胞病态造血、染色体核型异常与患者生存期的关系。结果患者全血细胞减少,肝脾肿大,伴有肾功能衰竭,西安金域医学检验公司染色体核型分析:48,XX,del(5)(q13q31),+8,+13 del(13)(q32),-20,marl[5]/48,XX,+10,-20,+marl×2[4]/46,XX[1];骨髓活检示:1免疫组化:CD34小血管(+),圆核细胞散在少(+),CD61巨核细胞多(+),可见单圆核及淋巴样巨核细胞;2结合免疫组化,网染(++)符合骨髓增生异常综合征;患者于确诊骨髓增生异常综合征后3个月转化为急性髓系白血病,由于患者及家属拒绝化疗,出现多次交叉配血不合,无法行输血支持治疗,自动出院后2周内死亡。结论高度复杂异常染色体患者转为急性白血病速度快、生存期短,预后极差。     

再生障碍性贫血遗传学不稳定性研究进展

再生障碍性贫血(AA)具有一定程度的细胞遗传学不稳定性,表现为疾病初期及治疗过程中出现如下克隆性细胞遗传学异常,如-7/7q-,+8和+6等.此异常克隆可持续存在,亦可呈一过性自发或治疗后消失.细胞遗传学异常的类型与AA疗效及其预后相关,伴-7,+6染色体结构异常和复杂核型AA免疫抑制治疗(IST)疗效欠佳,而伴+8,13q- AA IST疗效相对较好.病程中出现累及7号、9号、11号与21号染色体异常核型的AA较易进展为骨髓增生异常综合征/急性髓系白血病,但至少部分合并细胞遗传学异常AA临床过程与“典型”AA并无差异.现就AA细胞遗传学不稳定性病理生理机制及其临床意义进行综述.     

高超二倍体、三/四倍体染色体核型在急性髓细胞白血病中的预后意义

目的描述高超二倍体、三/四倍体染色体核型急性髓细胞白血病(HH/TT-AML)患者的生物学特征,探讨其与预后的关系。方法回顾性分析2006年3月至2017年6月28例HH/TT-AML初治患者一般临床特征、治疗情况,用Kaplan-Meier方法分析预后影响因素。结果 HH/TT-AML患者核型以49条染色体为主,占39.3%(11/28),50～55条染色体次之,占32.1%(9/28)。高超二倍体核型急性髓细胞白血病(HH-AML)患者以+8(77.3%,17/22)、+21(54.5%,12/22)多见。生存分析显示,伴-5/5q-、-7/7q-、-17/der(17p)及der(3q)的HH/TT-AML患者总体生存率劣于不伴此类异常者(4.1月vs 10.1月,P0.05);三/四倍体染色体核型急性髓细胞白血病(TT-AML)患者总体生存率与HH-AML患者差异无统计学意义(8.4月vs 7.2月,P0.05);异基因造血干细胞移植患者总体生存率优于仅化疗患者(25.4月vs 4.1月,P0.01)。结论 HH/TT-AML患者存在较大异质性,不良预后相关染色体异常的识别有助于预后分层。此类患者总体生存期短,联合化疗获缓解后尽早行异基因造血干细胞移植能显著改善患者预后。     

伴t(16;21)(p11;q22)的恶性血液病的临床和实验分析

目的探讨伴t(16;21)(p11;q22)的恶性血液病的临床及实验室特征。方法骨髓细胞24 h培养后按常规方法制备染色体,用RHG显带技术进行细胞遗传学分析。结果 1例M2的患者其核型分析结果有t(16;21)(p11;q22)的异常,临床和血液学改变符合急性髓细胞白血病-M2a诊断,化疗后未获得完全缓解,中位生存期为6个月。结论 t(16;21)(p11;q22)是一类很独特的白血病亚型有关的易位,为少见的非随机的染色体易位,其临床预后差。     

AML-MRC患者遗传特征及预后特点分析

目的:探讨急性髓系白血病伴骨髓增生异常相关改变(AML-MRC)患者的遗传特征及其预后特点。方法:选取近5年到宁波市第一医院就诊的非M3 AML患者230例,其中58例初发AML-MRC患者,对其进行随访并用SPSS 25.0软件进行相关统计分析。结果:共有49例患者进行了染色体检测,29例(59.2%)染色体异常,其中7q-8例(16.3%),5q-6例(12.2%),17p异常5例(10.2%),高度异常的复杂核型(CK)(≥5个无关染色体异常)13例(26.5%),CK中包含有+8、5q-等染色体异常,单体核型(MK)12例(24.5%)。37例患者进行了基因检测,24例(64.9%)存在基因突变,其中ASXL1突变8例(21.6%),TET2突变6例(16.2%)。Kaplan-Meier分析显示,伴有高度CK(P=0.012)、5q-(P=0.038)以及TP53突变(P=0.008)的AML-MRC患者总体生存率更差。结论:AML-MRC具有独特遗传学特征,高度CK、5q-及TP53突变是影响患者预后的不良因素。     

累及单核细胞系急性白血病50例核型分析

目的:探讨急性粒单核细胞白血病(M4)和急性单核细胞白血病(M5)的核型与预后的关系.方法:采用直接法和短期培养法制备骨髓细胞染色体,以R显带技术,对50例M4/M5患者进行染色体核型分析.结果:50例M4/M5中,24例(48.0%)检出核型异常.其中累及8号染色体异常(除外复杂核型)9例,3号染色体异常4例,复杂核型异常9例,7号及11号染色体异常各1例.化疗后9例获得完全缓解,缓解率37.5%(9/24),明显低于正常核型的缓解率65.4%(17/26),差异有显著性(x2=3.89,P＜0.05).结论:核型异常的M4/M5患者,特别是3号染色体异常和复杂核型异常组,疗效与预后较差.     

281例骨髓增生异常综合征患者染色体核型分析及临床意义的研究

目的 探讨骨髓增生异常综合征(MDS)患者染色体核型异常特征及其与临床预后的关系。方法 采用染色体常规G显带技术,对281例MDS患者进行细胞遗传学核型分析。结果 281例MDS患者中,染色体异常核型检出率48.75%(137/281),其中单纯染色体数目异常43.07%(59/137),单纯染色体结构异常者31.39%(43/137),同时有数目与结构异常者25.54%(35/137)。MDS亚型中,RAEB-2异常核型检出率为63.41%(26/41),RAEB-1为58.73%(37/63),RCMD 39.2%(49/125),RAS 15.38%(2/13),RA 22.58%(7/31)。RA,RAS异常核型检出率明显低于RAEB-1和RAEB-2(P＜0.01),RAEB-1和RAEB-2检出率高于RCMD(P＜0.05)。出现频率较高的染色体畸变依次为+8,-7/7q-,-20/20q-,复杂异常核型,染色体易位,i(17),-Y,+21等。随访的159例MDS患者中核型正常者68例,中位生存时间为39个月,核型异常者91例中位生存期21个月的,前者明显长于后者(P＜0.05),分析白血病转化率,核型异常者(35.5%),明显高于核型正常者(10.3%)(P＜0.01),其中以复杂核型、-7/7q-核型较易转为白血病。结论 MDS系克隆性恶性血液病,具有高度异质性,染色体核型检查对MDS的正确诊断、分型和预后判断具有重要意义。     

伴21号染色体核型异常的骨髓增生异常综合征患者的临床特征

目的:探讨伴21号染色体核型异常的骨髓增生异常综合征(MDS)患者的临床特点。方法:回顾性分析155例MDS患者的临床资料,并对伴21号染色体核型异常患者的临床特征、生存及预后相关因素进行分析。结果:155例MDS患者中,5q-综合征4例,MDS-EB-I 41例,MDS-EB-II 35例,MDS-SLD 27例,MDS-MLD 46例,MDSRS-SLD 1例,MDS-U 1例;中位随访时间为11.0(0.1-120.9)个月。155例MDS患者中,13例(9.0%)为伴21号染色体核型异常;其中单纯+21 5例,del(21q12) 1例,+8、+21 1例,i(21q) 1例,20q-、+21 1例,涉及21号染色体的复杂核型4例; MDS-SLD 2例,MDS-MLD 4例,MDS-EB-I 5例,MDS-EB-II 2例。13例患者的中位生存期为3.1(0.1-6.7)个月。结论:伴21号染色体异常在MDS中少见,且预后较不含21号染色体核型的患者差。     

染色体核型分析在白血病分型诊断和预后判断中的临床意义

目的应用染色体核型分析技术对白血病患者进行染色体畸变检测,分析它们对白血病分型诊断和预后判断的临床意义。方法疑似白血病患者118例,染色体核型分析采用骨髓细胞短期培养法、G显带。结果疑似白血病患者染色体畸变率为61.86,其中和法美英合作小组(FAB)亚型相关的特异染色体重排占染色体畸变的72.60。按FAB分类,M1、M2a、M2b、M3、M4、M5、慢性髓细胞性白血病(CML)、L2和骨髓增生异常综合征的染色体畸变率分别是50.00、56.00、83.33、70.59、40.00、66.67、92.59、44.44、20.00。t(8;21)仅出现在M2,t(15;17)仅出现在M3,t(9;22)出现在CML和L2。其中,CML的t(9;22)的阳性率为92.60,L2的t(9;22)的阳性率为18.18。按世界卫生组织的分类法,染色体核型预后良好组、预后不良组和中间组的白血病缓解率分别是88.89、33.33和64.71,差异有统计学意义(P0.01)。结论染色体核型分析对白血病的分型诊断和预后判断具有重要参考价值。     

现代残疾康复理念、政策与社区康复体系研究

本研究分析了当代残疾康复的理念和理论架构,构建了以国际公约、决议和政策、国内法律和政策以及操作性工具3个层次的康复理论体系;运用包容性发展,分析探讨了当代社区康复的体系和特点;就发展康复事业、为残疾人提供全面系统的康复服务提出相关的政策建议。     

国内外唇腭裂专科护理发展现状的文献研究及分析

目的了解和分析国内唇腭裂专科护理工作发展的现状。方法检索并分析万方医学网、中国知网、Springer Link及PubMed英文数据库近6年有关唇腭裂手术的围术期护理、患儿的喂养、手术安全管理、围术期疼痛研究以及心理护理的相关文献。结果共检索出国内文献89篇(核心期刊20篇)、国外文献22篇,其中围术期护理38篇、患儿的喂养16篇、手术安全管理10篇、围术期疼痛研究10篇、心理护理15篇。结论与国外文献相比,国内论文总结和回顾性居多,应增加研究探讨性论文,从而促进唇腭裂临床护理工作专科化的发展。     

城乡学童个性行为特征调查

目的探讨农村与城市儿童的个性行为特征。方法将97名农村学龄儿童设为农村组,97名城市学龄儿童设为城市组,采用艾森克个性问卷一儿童版和Achenbach’s 行为量表一儿童版进行评定分析。结果两组学龄儿童艾森克个性问卷各维度评分均无显著性差异（P均〉0．05）,且与全国常模相一致（P均〉0．05）;农村组男学童Achenbach’s行为量表违纪行为、攻击行为及外向型因子分均显著高于城市组,女学童退缩、社交问题因子分均显著高于城市组（P〈0．05或0．01）,其他因子分均无显著性差异（P均〉0．05）。结论农村与城市儿童个性无显著差异,而农村儿童存在较多的行为问题,可能与其所受教养和生活方式有关。     

我院文职护士管理和培训的实践与体会

目的构建文职护士培训、使用及管理的科学方法。方法通过规范管理、科学施训、作为骨干大胆任用等多种管理方式,使文职护士得到充分的发展。结果文职护士群体成长为医院优秀骨干,首批满3年的文职护士顺利通过续聘考核。结论科学的管理培训是文职护士成长的重要基石,对医院护理管理有着重要作用。     

Comparison of short-term and long-term protocols for stabilization and preservation of RNA and DNA of Leishmania, Trypanosoma, and Plasmodium

Molecular tools continue to be important in the prevention and control of parasitic diseases. However, using these techniques directly in the field remains a major challenge. Therefore, the preservation of clinical samples collected from endemic field areas for later analysis remains an important preanalytical process. This study aimed at identifying a suitable protocol for stabilization and preservation of RNA and DNA in bioclinical specimens for Trypanosoma, Leishmania, and Plasmodium research. Both spiked and unspiked blood samples were preserved in 7 protocols (different media; storage temperatures). Samples were evaluated for possible degradation of DNA and RNA along the storage duration up to the 10th week. Nucleic acid targets were assessed as follows: (i) Trypanosoma and Plasmodium RNA analysis was done using real-time nucleic acid sequence-based amplification (RT-NASBA) for 18S rRNA and for stage-specific Pfs25 mRNA, respectively; (ii) Trypanosoma DNA assessment analysis was conducted by using a conventional PCR for 18S rDNA; (iii) Leishmania RNA analysis was performed with a quantitative NASBA for 18S rRNA and Leishmania DNA assessment with an RT-PCR for 18S rDNA. Findings suggested that a newly developed L3™ buffer proved to be reliable and suitable for both short- and long-term preservation of parasite nucleic acid material. This buffer is envisaged to be suitable for utilization in field situations where resources are limited.     

History of violence and subjective health of mother and child

Objective: To study the self-reported prevalence of experienced violence among a cohort of women about two years after giving birth, their health during pregnancy, pregnancy outcomes and their experience of their child’s health.

Setting and subjects: In 2011, a total of 657 women participated in phase III of the Childbirth and Health Cohort Study in Icelandic Primary Health Care, 18 to 24 months after delivery. The women had previously participated in phase I around pregnancy week 16 and phase II 5–6 months after delivery. Data were collected by postal questionnaires.

Main outcome measures: Women’s reported history of experienced violence, sociodemographic and obstetric background, self-perceived health, the use of medications and their child’s perceived health.

Results: In phase III, 16% of women reported experiencing violence. These women felt less support from their current partner (p?p?p?p?p?p?=?0.008).

Conclusions: Our study confirms that a history of violence is common among women. A history of violence is associated with various maternal health problems during and after pregnancy, a higher rate of caesarean sections and maternal reports of health problems in their child 18–24 months after birth.

• KEY POINTS

• Violence is a major concern worldwide. Understanding the impact of violence on human health and developing effective preventive measures are important elements of any public health agenda.

• ??The reported prevalence of experiencing violence was 16% among women attending antenatal care in the primary health care setting in Iceland.

• ??Women with a history of violence reported worse health in general during pregnancy and delivered more often by caesarean section, compared to women with no such history.

• ??Mothers with a history of violence also evaluated the general health of their child as worse than women with no such history.

• ??The findings of this study support the importance of recognizing and addressing experienced violence among women in primary care.

     

Rates and risks of transmission of smallpox and mechanisms of prevention

In 1980, the World Health Organization declared smallpox eradicated from the world; the last known natural case had occurred in Somalia in 1977, and the United States had stopped routinely vaccinating its citizens in 1972. However, with increasing concerns regarding domestic and international terrorism, smallpox has resurfaced as a potential threat to global health. We review the direct and indirect modes of smallpox transmission and how patterns of transmission vary substantially, depending on the severity of circulating disease, vaccination status, environmental and socioeconomic factors, and the setting of an outbreak. We examine mechanisms for controlling outbreaks of disease and preventing further transmission in the event of an outbreak, with an emphasis on smallpox vaccination.     

通用设计原则与产品研发策略

本文介绍了通用设计的概念和设计原则,并阐述了根据此原则实施通用设计的产品研发策略。通用设计惠及的不仅是残疾人,也惠及了包括普通公众在内的广泛人群,以及企业。应将通用设计的原理应融入政府相关政策和未来发展的规划中,为残疾人以及更多人群提供合理便利的通用设计产品。     

Prevalence and severity of nausea and vomiting of pregnancy and effect of vitamin supplementation.

OBJECTIVE: Although nausea and vomiting of pregnancy is the most common medical condition during pregnancy, there are many unanswered questions regarding its cause, epidemiologic features and optimal management. The objectives of this study were to ascertain the prevalence of nausea and vomiting in a sample of Canadian women, to characterize the distribution of their severity and to investigate the role of vitamin B6 deficiency in their etiology. DESIGN: Prospective study. SETTING: Antenatal counselling service for pregnant women. PATIENTS: Three cohorts of women: a prospective, population-based cohort of 193 women, to estimate the rate and severity of nausea and vomiting (cohort A); a cohort of 555 women who sought advice for nausea with or without vomiting, to study the correlation between the maximal daily number of episodes of vomiting and maximal weight loss (cohort B); and a prospective cohort of 301 women who reported vomiting, to correlate vitamin supplementation with vomiting (cohort C). INTERVENTIONS: All 3 cohorts were interviewed during the counselling session, and cohort B was followed up prospectively. OUTCOME MEASURES: Frequency of nausea and vomiting, weight loss, maximal number of daily episodes of vomiting, rate of multivitamin supplementation. RESULTS: Overall, 67% of the women in cohort A reported experiencing nausea or vomiting, or both; 22% reported vomiting, and 9% experienced weight loss. In cohort B there was a significant correlation between the maximal number of daily episodes of vomiting and maximal weight loss, although there was wide variation (r2 = 0.25, p < 0.001). There was a highly significant correlation between the number of daily vomiting episodes and mean weight loss (r2 = 0.99). In cohort C, vomiting was significantly associated with lack of supplementation with multivitamins before 6 weeks' gestation (p = 0.002). CONCLUSIONS: The relation between number of daily vomiting episodes and mean weight loss may serve as a clinical tool to assess the severity of nausea and vomiting in pregnancy and the success of anti-emetics and rehydration regimens. Further study is needed to elucidate the biologic basis of the observed association between vomiting and lack of multivitamin supplementation in early pregnancy.     

胃癌DNA含量与E-cad、EGFR表达的关系及其意义

目的　探讨胃癌组织DNA含量与E cad、EGFR表达的关系 ,评价其在浸润、转移潜能及预后判断中的作用。方法　应用图像分析仪及SP免疫组化法检测 30例正常胃黏膜上皮、30例不典型增生和 5 0例胃癌组织DNA含量与E cad、EGFR蛋白表达情况。结果　①正常胃黏膜上皮、Ⅰ、Ⅱ、Ⅲ级不典型增生及胃癌组的DI、PI、S %、>5c %逐渐增高 ,与胃癌分期、淋巴结转移显著相关 (P <0 0 1)。②E cad在正常胃黏膜上皮阳性表达率 10 0 % ,EGFR呈阴性表达 ;Ⅰ、Ⅱ、Ⅲ级不典型增生及胃癌E cad阳性表达率逐渐降低 ,EGFR的阳性表达率逐渐升高 ,且差异显著 (P <0 0 5 ) ;E cad表达减弱、EGFR表达升高与胃癌分化差、淋巴结转移显著相关 (P <0 0 1)。③E cad表达阴性的胃癌DNA指数及EGFR表达水平显著高于E cad阳性 (P <0 0 1)。结论　检测DNA含量及E cad、EGFR蛋白表达有助于胃癌的早期诊断及转移潜能和预后的判断。