An analysis of paediatric diagnostic decision-making: how should students be taught?

This study assesses the relative importance of history, examination and investigations in paediatric diagnosis, in the Paediatric Out-patient Department of the Central Middlesex Hospital, London, by means of a questionnaire-based record of 94 consecutive referrals. A diagnosis identical to the final diagnosis was made in 76% of referrals after taking a history. The general practitioner had proposed a diagnosis in 45% in the referral letter. Clinical examination changed the diagnosis in only 15% but increased diagnostic confidence in 33%. Ninety-one per cent of cases were diagnosed without recourse to investigations. Forty-two per cent of children referred had investigations performed. In the majority of paediatric cases the provisional diagnosis reached after taking a history was identical to that after examination or results of investigations were known. Although examination provided a final diagnosis in only 15% of all cases it played an important role in adding confidence in 33%. More educational effort should therefore be directed at clinical history-taking skills and the subsequent purpose of examination.     

Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese

The nitric oxide synthase (NOS) gene is thought to be associated with essential hypertension (EH), because NO is implicated in endothelium-mediated vasodilation. We investigated the possible association between the alleles of simple tandem repeat DNA polymorphism of the endothelial constitutive NOS (cNOS) gene and EH in Japanese subjects. In all, 100 patients with EH and 123 subjects with normal blood pressure were studied. Polymerase chain reaction was used to amplify the CA repeat site in the endothelial cNOS gene and alleles based on the CA repeat number were determined. The allele frequencies in the hypertensive group and normotensive group were then compared. Twenty-three alleles were identified in this study of Japanese subjects. The overall distributions of allele frequencies in the two groups were not significantly different. However, comparing the allele frequencies in the EH group without left ventricular hypertrophy (LVH) and the normotensive group, the overall distributions were significantly different (p = 0.019). The 33-repeat allele was found more frequently in the EH group without LVH than in the normotensive group (p = 0.000047, Odds ratio = 3.71). In conclusion, the 33-repeat allele of the endothelial cNOS gene is associated with EH without LVH, and may be a genetic marker of EH in Japanese subjects.     

多发伤中四肢骨折早期处理

1997- 2 0 0 0年 10月我科收治多发性损伤有四肢骨折 10 2例 ,早期作内固定的有 4 5例 ,现对其中4 5例诊治过程进行回顾性分析 ,以期探讨多发伤中四肢骨折早期内固定的必要性。1　临床资料　　本组 4 5例 ,其中男 30例 ,女 15例 ,年龄 7～ 70岁 ,平均 37 5岁。受伤原因 :交通伤 2 2例 ,高处坠落伤 13例 ,压砸伤 5例 ,机器伤 5例。按肢体大骨折计算 ,胫腓骨骨折 2 8例 ,股骨骨折 13例 ,尺桡骨骨折2 0例 ,肱骨骨折 7例 ;开放性骨折 2 0例。合并伤 :合并颅脑损伤 2 5例 ,胸部损伤 17例 ,腹部脏器损伤 6例 ,血管神经损伤 2 1例 ,并发休克 2 0例…     

血浆纤维连接蛋白含量对肺性脑病预后判断的临床价值

采用火箭电泳法对６４例（８０例次）肺性病患者进行血浆纤维连接蛋白（Ｆｎ）测定。合并肺性脑病１９例，并与１０６例健康人及１０４例其他呼吸疾患进行对比．结果表明：正常组、肺性病缓解组、急性发作组、肺性脑病组血浆Ｆｎ水平分别为３４．２７±６．３６ｍｇ／ｄｌ，２９．６１±４．２５ｍｓ／ｄｌ，１５．２１±５．２０ｍｇ／ｄｌ，１１．８２±５．６７ｍｇ／ｄｌ．肺性脑病患者血浆Ｆｎ显著降低，并随病情恶化而进一步下降。同时，其含量变化与ｐＨ值和ＰａＯ２呈正相关，与ＰａＣＯ２，呈负相关。因此动态观察肺性脑病患者血浆Ｆｎ含量可作为判断顶后一项较为可靠的指标。     

A genetic progression model of oral cancer: current evidence and clinical implications

Based on recent genetic studies, we propose a progression model for the development of oral squamous cell carcinoma. In the initial phase, a stem cell acquires a genetic alteration; subsequently a patch is formed, a clonal unit consisting of the stem cell with its daughter cells that all share the DNA alteration. The next critical step is the conversion of a patch into an expanding field as a result of additional genetic alterations. This mucosal field replaces the normal epithelium and in the oral cavity such fields have been detected with dimensions of over 7 cm in diameter. Sometimes these fields are visible as leukoplakia. Ultimately, clonal selection leads to the development of carcinoma within this contiguous field of pre-neoplastic cells. An important clinical implication of this model is that fields often remain after surgery of the primary tumor and may lead to new cancers, presently designated by clinicians as second primary tumors or local recurrences.     

阻塞性睡眠呼吸暂停低通气综合征和肥胖及正常体重人群血清瘦素水平的研究

目的:探讨阻塞性睡眠呼吸暂停低通气综合征(OSAHS)、肥胖和正常体重人群的血清瘦素水平。方法:将经PSG检测的患者分为OSAHS组(53例)和单纯肥胖组(41例),另选正常体重者(正常体重组)62例,用放射免疫法测定3组的血清瘦素水平,同时测量每例受检者的身高、体重、颈围、腰围和臀围。结果:①无论男性还是女性,OSAHS组和单纯肥胖组的血清瘦素水平均比正常体重组高(均P<0.05);OSAHS组血清瘦素水平[男(8.06±2.58)μg/L,女(12.83±2.67μg/L)]均高于单纯肥胖组[男(5.75±1.27)μg/L,女(9.83±1.99μg/L)](均P<0.05)。②单纯肥胖组及OSAHS组血清瘦素水平分别与体质指数(BMI)呈显著正相关(均P<0.01),OSAHS组血清瘦素水平与AHI、颈围及腰臀围比(WHR)也呈显著正相关(均P<0.01)。结论:单纯性肥胖患者血清瘦素水平升高与机体内发生瘦素抵抗有关;OSAHS患者的血清瘦素水平与AHI呈正相关,说明OSAHS本身可能是引起血清瘦素升高的因素之一,瘦素可能有兴奋呼吸中枢的作用。     

Cdh1小干扰RNA载体的构建及鉴定

目的:构建Cdh1小干扰RNA载体,并将其转染至Hela细胞进行鉴定.方法:根据pENTRTM/H1/TO中间载体要求,设计Cdh1小干扰RNA载体的干扰序列及无干扰作用的对照序列,合成相应的DNA单链,退火后连接到pENTRTM/H1/TO线性载体,形成完整载体,进行测序鉴定.分别将测序鉴定成功的Cdh1小干扰RNA载体及对照载体采用脂质体法转染Hela细胞,转染后48 h提取细胞总RNA及细胞总蛋白,采用实时定量PCR和Western Blot检测Cdh1的表达.结果:经测序鉴定成功构建Cdh1小干扰RNA载体和对照载体,分别命名为pENTR/shCdh1和pENTR/shcontrol.与未转染及转染pENTR/shcontrol的Hela细胞相比,转染pENTR/shCdh1的Hela细胞Cdh1表达降低(P《0.05).结论:成功构建Cdh1小干扰RNA载体,并能下调Hela细胞Cdh1的表达.     

Primary Aldosteronism

ABSTRACT A follow-up examination was performed one month to 20 years after adrenalectomy in 28 cases with surgically treated primary aldosteronism due to adrenal adenoma. The mean age at diagnosis was 45, and the mean duration of hypertension seven years. Severe hypertension with a diastolic blood pressure of 130 mmHg or more was observed in 35%. Postoperatively cerebrovascular catastrophe developed in two cases, both of which belonged to the group of patients with severe hypertension. Normalization of blood pressure was observed in 70% and in the remaining subjects the blood pressure was lower than at diagnosis. The blood pressure response to adrenalectomy appeared unpredictable in view of such parameters as the initial blood pressure, age at diagnosis, and duration of the hypertensive state. Toxicosis during pregnancy and metrorrhagia was observed with unexpectedly high frequency in this study population. Low ambulatory plasma renin activity was recorded at the follow-up in 15 out of 18 subjects studied in the absence of evidence of hyperaldosteronism.