Juvenile Myoclonic Epilepsy: Factors of Error Involved in the Diagnosis and Treatment

Juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, has a distinct clinical and electroencephalographic profile. Often JME is not recognized, with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis even in an epilepsy clinic. Of 70 JME patients, 66 (91.4%) were not diagnosed on referral and 22 (33%) were not initially recognized in the epilepsy clinic. The correct diagnosis was established after a mean of 8.3 +/- 5.5 years from disease onset and an interval of 17.7 +/- 10.4 months from first evaluation in the epilepsy clinic. Myoclonic jerks, the hallmark of the disease, were not usually reported by patients. Similarly, relevant questioning may not be included in the history. Absence seizures antedating jerks by many years, myoclonic jerks reported as unilateral, generalized tonic-clonic seizures occurring during sleep and focal EEG abnormalities are other factors contributing to not recognizing JME. Our study reemphasizes the need to have not only a correct seizure diagnosis but also a correct epilepsy-disease diagnosis.     

Do forceps biopsies truthfully reflect the nature of endoscopically uncovered polypoid lesions of the colon?

BACKGROUND: Total excision of colonic polyps is not always attainable and in some patients it is clinically contraindicated. Also, a resected polyp may be lost at any step between its endoscopic removal and its embedding in paraffin. The aim of this study was to compare the histological features of colonic polyps as analysed by the study of biopsy-forceps obtained samples with those assessed on scrutinizing the totally resected growths. PATIENTS AND METHODS: This prospective study included a cohort of 59 patients in whom, in the course of an elective colonoscopy, a total excision of a 6 mm-sized or larger polyp was called for. Sizeable biopsies were obtained by means of an Olympus Multibyte forceps prior to the total polypectomy. Subsequent to the study of the polypectomy specimens, the forceps biopsy samples were submitted for histological examination. The pathologists were blinded as to the source of the tissue they were studying. The diagnoses rendered by evaluating the biopsy samples and polypectomy specimens of each patient were contrasted with each other. RESULTS: Major discrepancies between the histological features of the fragments captured by the biopsy-forceps and the factual nature of the totally removed polyps were uncovered in 11 (18.6%) of 59 cases. Intriguingly, the grade of the tumours was underrated in all the 11 cases, as judged by contrasting the tentative diagnoses of the forceps-biopsies with the decisive diagnoses of the polypectomies. Importantly, 2 adenocarcinomas would have been missed by just looking at the forceps-retrieved sample. CONCLUSIONS: In our experience, a discordance of 18.6% is to be expected between the diagnoses rendered after examining forceps-biopsies of and totally excised colonic polyps. Nevertheless, it is advisable to procure biopsies prior to the excision of the growths, because on those occasions in which patients' growths cannot be removed or have not been retrieved for one reason or another, a small forceps-captured tissue sample correctly reflects the characteristics of the polyp in 81.4% of the cases. Finally, the biopsies may be discarded in the event that total removal was successful.     

对儿童X线体检中减少照射剂量的探讨

目的:探讨儿童在X线体检中减少照射剂量的方法。方法:应用东芝500mA遥控X线机、FJ-427型热释光剂量仪等设备,对100名3~5岁儿童体检时,随机分成两个对照组、每组50名,分别接受胸透或平片检查,对检查测得数据均进行统计学处理。结果:胸透时胸部接受的照射剂量是平片的22倍多,其它部位接受的X线散射剂量平均值之比亦在20~30倍之间。结论:在儿童X线体检中应采用常规胸片替代胸透,可以有效地降低其辐射危害。     

歼击机飞行员改装体检脊柱病症的医学鉴定

目的对近几年来我院改装体检歼击机飞行员脊柱病症健康鉴定进行归纳总结。方法收集分析了261例歼击机飞行员体检和X线、CT的影像诊断资料,并对因脊柱病症体检不合格资料进行统计学分析。结果歼击机飞行员体检中,脊柱影像诊断中以腰椎间盘突出(49例)最多,但多数没有相应的临床症状,有20例因脊柱病症不合格,其中腰椎双侧峡部裂伴Ⅰ°滑脱9例,占不合格总数的45%,是不合格的主要原因。结论外科体检中应该重点加强对脊柱的检查,影像诊断应结合症状和脊柱功能作出鉴定,必要时应作随访观察。     

氯氮平对51例精神病患者骨髓象的影响

精神病女性患者５１例，服用氯氮平１００－３５０ｍｇ／ｄ，共４２ｄ。２２例骨髓象由用药前的增生活跃变为增生明显活跃，骨髓粒细胞系统所占比例明显增多；２９例无变化。未见骨髓抑制者。     

SARS死亡病例的实验室检查特点

目的：了解严重急性呼吸综合征(SARS)死亡病例的临床特点，为SARS重症病例的诊断、治疗及预后判断提供帮助。方法：对我院2003年1月至4月底收治的102例确诊非典患者中的5例死亡病例的流行病学及实验室检查资料进行回顾性分析。结果：死亡病例均为男性，平均49岁，从发病到入院平均7．6d，从住院到确诊平均1．2d；从住院到死亡平均14．4d，从发病到死亡平均为22d。死亡病例粒细胞总数和百分比均明显升高，多数患者淋巴细胞计数和百分比降低(4／5)，血红蛋白均呈进行性下降。死亡患者除已见报道的ALT、AST、LDH、CK升高及低钙血症外，GLU均明显高于正常而ALB均明显降低；大多数患者TP、PA等多项生化指标均出现明显下降而脱氧血红蛋白百分率(HHb)明显上升，同时伴有低磷、低镁血症。结论：SARS死亡病例多项实验室指标均会出现明显异常，动态监测这些指标有助于SARS患者的诊断、治疗及预后判断。     

输尿管息肉的诊断与治疗(附9例报告)

目的：探讨输尿管息肉的诊断与治疗方法。方法：回顾性分析9例输尿管息肉患者的临床资料，结合文献进行讨论。结果：9例患者中，4例行息肉切除加基底部电灼，2例行息肉切除输尿管肾盂吻合术，2例行病变段输尿管切除再吻合术，1例行肾切除术。全部病例均获治愈并经病理证实。结论：放射学检查是诊断输尿管息肉的主要方法，其特征是边缘光滑锐利的充盈缺损。输尿管息肉的治疗以手术为主，应根据息肉的大小，数量，部位及肾脏受累程度选择局部切除术，输尿部分切除术和肾盂成形术等。     

胰腺分裂与慢性胰腺炎的病因学关系及发病机制

目的:探讨胰腺分裂(PD)在慢性胰腺炎病因学中的作用及其发病机制。方法:将32只犬随机分为4组(每组8只)。Ⅰ组:部分结扎背-腹胰管间的交通支。Ⅱa组:切断并结扎交通支。Ⅱb组:在背胰管注入小乳头前2mm处将其切断并结扎断端。Ⅲ组:假手术对照组,除不结扎交通支外,其余操作同上。于手术前检测各组犬血清磷脂酶(PLA2)和淀粉酶(Ams)活性及背、腹胰管基础压并在胰泌素激发后15、30、45、60和90分钟各测压一次。于术后180天再行胰胆管测压和造影并观察背、腹胰和十二指肠乳头的病理改变。结果:⑴Ⅰ、Ⅱa组和Ⅱb组术后5-80天血清PLA2和Ams活性显著升高。⑵处死时Ⅰ、Ⅱa组腹胰管和Ⅱb组背、腹胰管压力在激发后30-60分钟显著高于注药前(P<0.01);在60分钟后,前两组压力恢复到术前水平(P>0.05),而Ⅱb组仍较高(P<0.05),该组压力在90分钟后恢复正常。⑶光镜:Ⅱb组犬背、腹胰小叶间或/和胰管周围显著纤维组织增生,腺细胞结构破坏和炎细胞浸润。Ⅰ和Ⅱa组腹胰见轻度上述改变。⑷电镜:Ⅰ、Ⅱa组腹胰和Ⅱb组背、腹胰腺细胞粗面内质网脱颗粒、融合和扩张。酶原颗粒减少,线粒体肿张。Ⅰ和Ⅱa组背胰及Ⅲ组背、腹胰未见异常。结论:PD是慢性胰腺炎的病因学因素之一,其引发胰腺炎的机制是在胰液分泌的高峰期副乳头功能性梗阻。