Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。     

Intelligent dialogue based on statistical models of clinical decision-making

The independence Bayesian model has been used widely in computer programs designed to support clinical decision-making. A reasoning strategy has been developed to enable these programs to conduct clinically pertinent dialogue and explain their reasoning. It has been implemented in a program for the diagnosis of acute abdominal pain based on the Bayesian model of de Dombal et al. Several features of the dialogue design have been adopted from artificial intelligence research, including shared initiative and critiquing. The program adopts a flexible goal-driven strategy, attempting to confirm the clinician's diagnosis or rule out the likeliest alternative. Symptoms and signs are selected in order of their expected weights of evidence in favour of the hypothesized disease.     

婴儿肝炎综合征63例临床分析

对我科1989-1990年中收治的婴儿肝炎综合征63例的临床表现、合并症、治疗等方面进行了分析。笔者认为婴儿肝炎综合征为一组临床症候群。病因诊断有其重要性。腹部B超检查有助于肝炎和胆道闭锁的鉴别,可作为常规检查方法。并认为用肾上腺皮质激素治疗有效。     

Developing ‘FOCUS’: A project to promote effective practice in child and adolescent mental health services in the UK

Summary UK health policy requires child and adolescent mental health service providers to demonstrate that their services are effective. The FOCUS project has been developed to improve the availability and accessibility of research evidence and innovation, to support purchasers in the effective commissioning of services and to help providers base service provision on evidence of effectiveness and develop methods of evaluation.     

Opitz (BBB/G) syndrome: Oral manifestations

We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females. © 1992 Wiley-Liss, Inc.     

Predictivity of Plasma Prolactin Levels in Differentiating Epilepsy from Pseudoseizures: A Prospective Study

The predictivity of raised plasma prolactin (PRL) concentrations in differentiating seizure from syncopal attack was prospectively assessed in all patients consecutively admitted to the Clinica Neurologica of Brescia, Italy in a 12-month period who fulfilled the criteria for either a seizure or syncopal attack. Postictal plasma prolactin concentration (P1) was assessed as soon as possible after the event. Three further assessments were performed: P2 was sampled 1 h after P1, P3, and P4 were sampled in the morning for the next 2 days. Patients who had had a seizure showed significantly increased P1 concentrations, when P1 was sampled within 60 min of the attack. In seizure patients assessed >1 h after the event, P1 was not significantly different from either P2, P3, or P4. In patients who had had a syncopal attack, PRL concentration never increased. In patients assessed ≤60 min after the seizure, cutoff criterion of P1 exceeding by + 3 SD the mean calculated on P2, P3, and P4 yielded a positive predictive value of 89% and a negative predictive value of 61%. These findings confirm that plasma prolactin concentration is highly predictive of true epilepsy but barely predictive of pseudoseizures.     

原发性腹膜后脂肪肉瘤20例报告

自１９６５年５月至１９９１年７月共收治原发性腹膜后脂肪肉瘤２０例，均经手术及病理证实。２０例中完全切除者１５例，部分切除者４例，活检１例。肿瘤切除合并肾，肠襻等邻近器官切除者达１２例。全组的５年，１０年生存率分别是５７．１％和２０．０％，完全切除组的５年１０年生存率分别是６３．６％和２８．６％。２０例病人共进行了４８次切除手术。首次手术死亡２例。着重讨论了本病的诊断、治疗和突出的临床特点。     

颈动脉加压注射复方维脑路通合剂治疗脑梗死180例临床分析

本科自 2 0 0 0年 6月以来 ,采用颈动脉加压注射复方维脑路通合剂治疗脑梗死 180例 ,并与静脉给药组相比较 ,现总结如下。1　资料与方法1.1　临床资料　治疗组 180例 ,男 117例 ,女 6 3例 ,年龄 37岁～ 76岁 ,平均年龄 5 7.2 0岁。均为颈内动脉系统脑梗死。其中大面积脑梗死 4例 ,脑梗死 85例 ,腔隙性脑梗死 91例。大面积脑梗死组 4例 ,其梗死灶涉及 2个脑叶或以上 ,均无意识障碍及脑疝者 ,在发病 10d后即脑水肿高峰期后开始颈动脉加压注射。治疗组病例选择除下列禁忌 :①严重高血压病(血压≥ 2 6 .6 / 16kPa) ;②脑出血、出血性梗死 ;③严…     

中西药合用对帕金森病大鼠旋转行为的影响

目的 观察中西药合用对帕金森病(Parkinson disease，PD)大鼠旋转行为的影响。方法 采用6羟多巴胺注射于脑右侧黑质造成偏侧帕金森病模型，并用滋补肝肾、通络解毒的中药以及西药美多巴进行治疗，同时设立美多巴对照组，观察中西药合用对PD大鼠旋转行为的影响。结果 中西药合用可使模型大鼠的旋转圈数明显减少。结论 中西药合用能明显改善PD模型大鼠的旋转行为。     

合并心律失常的心力衰竭56例治疗评价

目的探讨心力衰竭并发心律失常的发病规律及治疗方法。方法回顾性分析了93例慢性心力衰竭病人的临床资料，包括临床特点、诊断治疗方法以及预后。结果心律失常发生率为60．2％，以室性早搏发生率最高32．1％，其次是房性早搏26．8％，心房纤颤21．4％，其他19．7％，经治疗有效71例，总有效率76．3％。结论纠正心功能不全是治疗的关键，应根据具体情况选择性地应用抗心律失常药。