中国汉族瘢痕疙瘩家系的遗传学特征研究

目的 研究中国汉族瘢痕疙瘩家系的遗传学特征.方法 收集6个无亲缘关系的中国汉族瘢痕疙瘩家系的临床资料、绘制家系系谱和分析遗传模式以说明其遗传学特征.结果 这些瘢痕疙瘩家系以青春期发病为主,且男女患病的机会均等;杂合体即可发病,双亲之一发病其半数子女可能发病;3个家系疾病性状连续传递、外显完全,而另3个家系疾病性状间断传递、外显不完全;临床表型存在个体差异.结论 中国汉族瘢痕疙瘩家系的遗传模式符合常染色体显性遗传、伴外显不完全,表现度存在差异,并具有延迟显性特征.     

重症急性胰腺炎早期并发多脏器功能障碍综合征的危险因素分析

目的探索重症急性胰腺炎(SAP)患者早期并发多脏器功能障碍综合征(MODS)的临床危险因素。方法回顾性分析1995年1月至1999年12月及2000年1月至2005年6月分别收治的SAP患者107例及113例,前者为A组,后者为B组。对年龄、性别、Ranson评分、APACHEⅡ评分、CT评分以及是否伴有胆道梗阻、休克、高脂血症、腹腔室隔综合征、低氧血症、肺部感染、胸腔积液等因素进行多因素Logistic分析。同时也分析不同临床处理方式对SAP病死率的影响。结果A组(n=107)和B组(n=113)中分别有25例和28例SAP患者早期并发MODS,MODS组和无MODS组两组比较,在Ranson评分,APACHEⅡ评分,CT评分方面差异有显著性(P<0.05)。MODS组在存在休克、胆道梗阻、高脂血症、肺部感染、低氧血症、腹腔室隔综合征、胸腔积液方面高于无MODS组,两组比较,差异有极显著性(P<0.01)。B组患者由于采用了综合性救治技术(如床边血滤,人工肝支持等),其病死率下降与A组比较,差异有显著性(P<0.05)。结论SAP患者早期并发MODS的临床危险因素与休克、胆道梗阻、高脂血症、肺部感染、低氧血症、腹腔室隔综合征、胸腔积液以及临床处理方式有关。而及时有效的治疗可大大降低MODS的发生率。     

爱通立溶栓治疗急性脑梗死伴出血

目的评价和分析rt-PA治疗6 h内急性脑梗死合并出血的临床意义及相关因素。方法将符合入选标准的患者随机分为A组(rt-PA 0．9 mg/kg)、B组(rt-PA 0．7 mg/kg)、C组(对照组),并将三组又分别分为克赛亚组(A1、B1、C1)和非克赛亚组(A2、B2、C2)。采用CSS及Barthel指数评定溶栓前、溶栓后24 h、3 d、7 d、90 d的疗效。结果各组的总出血发生率、48 h脑出血率、14 d脑出血发生率,A、B 组高于C组,差异有显著性。症状性脑出血率A组、B组与C组差异无显著性。90 d显效率与90 d痊愈率 A、B组高于C组,差异有显著性。90 d病死率A、B组低于C组,差异有显著性。以上各观察结果A与B 组差异无显著性,克赛亚组与非克赛亚组差异无显著性。结论rt-PA静脉溶栓6 h以内急性脑梗死会增加出血机会,但能提高疗效,降低病死率,因此,rt-PA 6 h内静脉溶栓治疗急性脑梗死是安全、显效的,剂量以0．7 mg/kg更符合国人。     

Healthy Aging and Dietary Patterns

A number of factors contribute to the complex process of aging, which finally define whether someone will or not develop age-associated chronic diseases in late life. These determinants comprise genetic susceptibility as well as various behavioral, environmental, and dietary factors, all of which have been shown to influence specific pathways regulating the aging process and the extension of life, which makes longevity a multidimensional phenomenon. Although a “miraculous elixir” or a “nutrition pill” are not plausible, researchers agree on the notion that nutritional factors have major impact on the risk of age-associated chronic non-communicable diseases and mortality. In recent years nutrition research in relation to health outcomes has considerably changed from focusing exclusively on single nutrients to considering combinations of foods rather than nutrients in isolation. Although research on specific nutrients is scientifically valid providing crucial evidence on the mechanisms by which nutrition impacts health, the recent switch targeting the multifaceted synergistic interplay among nutrients, other dietary constituents, and whole foods, has promoted emerging interest on the actions of total dietary patterns. This narrative review aims to describe some specific dietary patterns with evidence of associations with reduction in the incidence of chronic diseases allowing older adults to live a long-lasting and healthier life, and confirming the powerful impact nutrition can exert on healthy aging.     

急性冠脉综合征瘀毒互结证诊断标准研究

目的 基于冠心病“瘀毒”病因病机的理论认识,建立急性冠脉综合征瘀毒互结证诊断标准。方法 采用文献系统分析与横断面临床研究构建条目池,采用德尔菲法专家咨询对条目进行筛选,采用层次分析法确定各条目权重。在此基础上,结合条目权重及临床实用性原则建立诊断标准。结果 文献系统分析筛选条目43个,横断面临床研究纳入患者400例,筛选条目39个,归纳分类后形成包含67个条目的条目池;经过两轮德尔菲专家咨询,筛选保留条目28个;通过层次分析法,确定高权重类条目（0.0430~0.1976）9个、中权重类条目（0.0153~0.0289）9个与低权重类条目（0.0060~0.0147）10个。结合临床实用性原则,优化形成包括必要指标（心绞痛程度进行性加重、近1个月反复发作性心绞痛等）、理化指标（心脏肌钙蛋白或肌酸激酶同工酶升高等）及舌象脉象（舌青紫或紫暗等、脉弦细或脉涩）3个维度的急性冠脉综合征瘀毒互结证诊断标准。两轮专家问卷咨询肯德尔和谐系数分别为0.368、0.395,格朗巴赫系数为分别为0.967、0.893,提示专家意见一致性好,结果可信度高。结论 该诊断标准涵盖了反映瘀毒互结致病特点的宏观表征和理化指标,可指导急性冠脉综合征瘀毒互结证的诊断。     

高低角型女童颅面部软组织侧貌水平向生长变化的纵向研究

目的观察高低角型女童颅面部软组织侧貌在水平方向的生长变化。方法根据Bjork前颅基底稳定结构重迭法,头影测量20名女童在自然头势状态下9、12、15和18岁的X线头颅定位侧位片,统计分析颅面部软组织侧貌Ga、N’、Nasal、Sn、A’、Ls、Li、B’、Pg’及Gn’各点至垂直平面(Pr-VER)的水平向距离变化以及上下唇至美学平面(E-line)的垂直距离变化。结果①Pg’和Gn’与Pr点之间的水平距离在9～18岁期间未见显著变化,说明颏部软组织向前生长移动的速度接近于鼻尖部。②Ga、N’、Nasal、Sn、A’、Ls、Li、B’点与Pr-VER的水平距离以及Ls和Li至E-line距离在9～18岁期间随年龄增加而加大,说明上下唇及额部软组织向前生长移动的速度慢于鼻部及颏部。③除高角型女童在各阶段Pg’点至Pr-VER距离大于低角型,上下唇至E-line距离小于低角型外,其他测量值高低角型之间差异无显著性。④高低角型青少年儿童在9～18岁期间各测量项目的变化值之间差异无显著性。结论高、低角型女童在颅面部软组织侧貌生长变化方面差异无显著性,均表现为颏部及鼻部向前生长移动快于唇部及额部。     

儿童重症监护病房收治意外伤害临床特征及死亡危险因素分析

目的:探讨儿童重症监护病房(PICU)收治意外伤害的临床特征和危险因素。方法:回顾性总结上海交通大学附属儿童医院2017年1月至2019年12月因意外伤害收住PICU的患儿。分存活组和死亡组,比较临床特点与实验室指标的差异,多因素Logistic回归筛选死亡的危险因素和受试者工作特征曲线确定其阈值。结果:(1)意外伤害...     

A study of referral pattern to pediatric ophthalmology department in a tertiary eye-care center of South-India

Purpose:The study was aimed at finding out the present pattern of referrals to the Pediatric Ophthalmology outpatient department (OPD) in a tertiary eye care hospital and thus identify the discrepancy of referral, if any, which would help to modify and enhance the practice guidelines.Methods:The study was conducted by retrospectively collecting data from all referral letters that were already uploaded in the Electronic Medical Report (EMR) against all patients from June 2019 to December 2019. All pediatric patients in the age group of 0–16 years were included in the study. The practicing field of referring clinicians was noted along with the maximum information that could be collected from the referral letter and were thus assessed for the quality, accuracy, and timely referral.Results:Out of 77 referrals received in the study period, six referral letters neither had any mention of the designation of the referring clinician nor any specific diagnosis or details. Thus, only 71 patients were included for further study. The referring clinicians were mainly ophthalmologists, pediatricians, general practitioners (GPs), and others (cardiologists, neurologists). Maximum patients were referred by ophthalmologists (76%) but visual acuity was noted only for 30% of these patients. Almost half of the referral diagnosis was accurate. Pediatrician referrals were found to be more detailed and précised.Conclusion:There is a need for a standardized hospital-specific format of referrals and basic training to primary care providers on some simple tests (Lights reflex tests) for identifying the “red flags” in pediatric eye examination and thus enhancing the quality and timely referral per se.     

河北南部多中心3 141例肾活检资料分析

目的了解河北南部多中心3 141例肾活检资料的流行病学特点及病理类型与临床表现之间的联系。方法回顾性分析1999年5月至2006年1月3 141例因肾脏疾病而行肾活检患者的性别、年龄、病理类型及临床表现。结果本组患者做肾活检时的年龄6~82岁,平均(33.8±12.7)岁;男1 670例(52.3%),女1 471例(46.8%)。11~49岁患者2 544例(81%)。大多数肾脏疾病男性占优势,而狼疮性肾炎(LN)、原发性小血管炎肾损害、肾小管间质疾病(TID)女性占优势。最常见的病理类型依次为慢性肾炎综合征(IgAN)(26.0%)、微小病变(MCD)(13.2%)、膜性肾病(MN)(10.8%)、LN(7.0%)、紫癜性肾炎(HSPN)(6.8%);平均年龄分别为(30.7±11.4)岁、(31.3±6.2)岁、(40.5±8)岁、(32.8±9.9)岁(、26.9±9.8)岁。最常见的临床综合征是慢性肾炎综合征(CNS)(43.8%)和肾病综合征(NS)(42.2%)。CNS最常见的病理类型是IgAN(49.1%)、HSPN(15.6%)、MN(9.5%)。NS最常见的病理类型为MCD(32.0%)、MN(17.5%)、LN(15.5%)。结论最常见的肾小球疾病是IgAN,男性,青壮年是高发人群,最常见的临床表现是CNS。