Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes

OBJECTIVES: This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches. METHODS: A retrospective analysis of the medical, electroencephalogram, and laboratory records of 142 patients with epilepsy was performed. The patients were evaluated for MD, and 124 patients were included in the final cohort. The MD criteria used included an oral glucose lactate stimulation test (OGLST) and urine organic acid/plasma amino acid (UOA/PAA) assays as metabolic indicators of modified Walker criteria, as suggested by Bernier et al. (Neurology 59:1406-1411, 2002). RESULTS: Twenty-two patients were classified as having definite MD (9), probable MD (5), possible MD (6), or pyruvate dehydrogenase (PDH) deficiency (3), including one patient which showed a respiratory chain (RC) defect and PDH deficiency. Seven out of eight patients in whom significant RC defects were observed showed complex I defects. In 14 patients, epileptic seizures start at infantile ages. Of 17 patients who substantially presented generalized seizures, 4 patients started with partial seizures. Five patients consistently presented only partial seizures. The OGLST and UOA/PAA assays were useful for a more precise diagnosis of MD, although low positive predictive value of the OGLST was regrettable. No patient was classified as definite MD by Walker's original criteria, but the use of our revised MD criteria resulted in the classification of nine additional patients as definite MD. CONCLUSIONS: MD manifested considerable diverse epileptic phenotypes and should be considered in the differential diagnosis of epilepsy in children with unexplained encephalomyopathy and progressive and fluctuating clinical courses.     

Performance and comparison of the Cockcroft-Gault and simplified Modification of Diet in Renal Disease formulae in estimating glomerular filtration rate in a Chinese Type 2 diabetic population.

AIMS: Our aim was to assess performances of the Cockcroft-Gault and simplified Modification of Diet in Renal Disease (MDRD) formulae in estimating glomerular filtration rate (GFR) in Chinese diabetic populations and their association with vascular risks. METHODS: A total of 1009 patients with Type 2 diabetes were categorized into low estimated GFR groups (GFR < 60 ml/min/1.73 m(2)) and control groups by the two equations. The performances of these formulae were assessed at different stages of kidney function. Carotid artery intima-media thickness (IMT) and the prevalence of diabetic retinopathy or albuminuria were compared among the groups. The ability of these formulae to identify established vascular risk markers using sensitivity, specificity, positive and negative predictive values were also compared. RESULTS: The prevalence of low estimated GFR was 32.7% with the Cockcroft-Gault formula and 5.2% with the MDRD formula, respectively. In low estimated GFR subjects by the MDRD formula, IMT was significantly thicker than those by the Cockcroft-Gault formula (1.2 mm vs. 1.0 mm; P < 0.05), with a higher prevalence of albuminuria (78.4 vs. 52.8%, P < 0.05) and diabetic retinopathy (46.5 vs. 30.5%; P < 0.05). The Cockcroft-Gault formula gave a specificity of 71.7% and a sensitivity of 37.0%, and the MDRD formula gave a specificity of 96.6% and a sensitivity of 7.9% in estimating low GFR relevant for established vascular risks. CONCLUSIONS: These formulae performed differently in Chinese diabetic populations. The simplified MDRD formula is minimally superior to the Cockcroft-Gault formula for its high specificity and positive predictive values in estimating low GFR relevant for vascular risks.     

阴道粘膜上皮细胞的分离培养和鉴定

目的 初步建立阴道粘膜上皮细胞体外培养方法,为阴道粘膜上皮研究提供实验模型.方法 取雌性新西兰大白兔阴道粘膜组织小块,胶原酶Ⅳ和胰蛋白酶联合消化分离法收集上皮细胞,接种于角朊细胞无血清培养液中静置培养、传代.动态观察细胞生长增殖情况,扫描和透射电镜观察超微结构,流式细胞仪测定细胞增殖周期,并进行免疫组织化学鉴定.结果 体外培养的阴道粘膜上皮细胞为二倍体细胞,增殖状态良好,细胞间可见桥粒连接,免疫组化角蛋白染色阳性.细胞的超微结构和免疫组化染色均具有上皮细胞特征.结论 在本实验条件下,体外培养的阴道粘膜上皮细胞具有较好的增殖能力,可作为阴道粘膜上皮研究的理想实验模型.     

低潮气量治疗在机械通气肺结核术后合并呼吸衰竭患者中的应用

目的 探讨低潮气量维持通气对肺结核术后合并呼吸衰竭患者的应用价值。方法 在有效的抗结核、抗感染治疗的基础上，对32例肺结核术后合并呼吸衰竭患者进行低潮气量（6～8ml／kg）机械通气治疗，观察疗效及并发症。结果 呼吸衰竭治愈31例，死亡1例，治愈率96．9％，无明显并发症。结论 低潮气量维持通气对肺结核术后合并呼吸衰竭患者的治疗是安全的，且疗效显著。     

广西不同民族高中生心理健康状况调查

本文于2004年3-5月对广西南宁、桂林、梧州、北海、百色市，恭城、富川瑶族自治县，三江侗族自治县．龙胜各族自治县等地高一至高三学生进行心理健康测查，结果如下。     

Investigation of the Effect of Neoadjuvant Chemotherapy on Stage Ⅱ Breast Cancer

OBJECTIVE To investigate the effect of neoadjuvant chemotherapy in treatment of Stage Ⅱ breast cancer. METHODS The data from 113 patients with breast cancer of the same pathologic type in Stage Ⅱ,during the period of 1995 to 2001,were analyzed retrospectively.Among the patients,47 were treated with neoadjuvant chemotherapy,and 66 received no adjuvant therapy before surgery（control group）.After the patients of the neoadjuvant chemotherapy group had received 2 courses of chemotherapy with the CMF regimen,the surgical procedure was conducted. RESULTS Complete remission（CR）was attained in 9 of the 47 cases receiving neoadjuvant chemotherapy and partial remission（PR）was reached for 22 cases.The rate of breast-conserving surgery was enhanced from 22.73%to 46.81%（P〈0.05）in the neoadjuvant treatment group. There was no difference in the 5-year overall survival（OS）and disease-free survival（DFS）rate between the two groups（P〉0.05）,but the 5-year OS and DFS of the cases with clinical tumor remission was higher compared to the control group（P〈0.05）. CONCLUSION Neoadjuvant chemotherapy can enhance the rate of breast conservation for Stage Ⅱ breast cancer and may improve the prognosis of the cases with clinical remission.     

Molecular determinants of cetuximab efficacy.

PURPOSE: To investigate whether mRNA expression levels of cyclin D1 (CCND1), cyclooxygenase 2 (Cox-2), epidermal growth factor receptor (EGFR), interleukin 8 (IL-8), and vascular endothelial growth factor (VEGF), all members of the EGFR signaling pathway, are associated with clinical outcome in patients with EGFR-expressing metastatic colorectal cancer (CRC) treated with cetuximab. PATIENTS AND METHODS: Thirty-nine patients with metastatic CRC, refractory to both irinotecan and oxaliplatin, were enrolled on IMCL-0144 and treated with single-agent cetuximab. The intratumoral mRNA levels of CCND1, Cox-2, EGFR, IL-8, and VEGF were assessed from paraffin-embedded tissue samples using laser-capture microdissection and quantitative real-time polymerase chain reaction. RESULTS: There were 21 women and 18 men with a median age of 64 years (range, 35 to 83 years). Higher gene expression levels of VEGF were associated with resistance to cetuximab (P = .038; Kruskal-Wallis test). The combination of low gene expression levels of Cox-2, EGFR, and IL-8 was significantly associated with overall survival (13.5 v 2.3 months; P = .028; log-rank test). Both findings were independent of skin toxicity that was itself significantly correlated to survival. Patients with a lower mRNA amount of EGFR had a longer overall survival compared with patients that had a higher mRNA amount (7.3 v 2.2 months; P = .09; log-rank test). Patients with lower expression of Cox-2 had a significantly higher rate of grade 2 to 3 skin reactions under cetuximab treatment. CONCLUSION: This pilot study suggests that gene expression levels of Cox-2, EGFR, IL-8, and VEGF in patients with metastatic CRC may be useful markers of clinical outcome in single-agent cetuximab treatment.     

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1什么叫慢性腹泻病?为什么要加强小儿慢性腹泻病的研究?腹泻是由多种病因引起,以大便性状异常这一特殊症状命名的一种疾病。正常小儿与正常成人一样,粪便成形,含水量不多,日解1次。除非母乳喂养儿,粪便可呈糊状,且可解2～5次。一般认为,粪便量超过每天每平方米体表面积200mL以上即有腹泻。也有认为,一般成人每日的粪便在200g以内(其中65%～70%为水);而婴儿则可为每日每公斤体重5～10g。粪便中排水量明显增多,必然会改变粪便的性状,粪便排便次数增多,出现腹泻[1-3]。单纯由于进食不被消化吸收的粗纤维过多,也可使粪便次数增多,因为粪便性状…     

慢性鼻窦炎鼻息肉合并支气管哮喘患者鼻窦内镜术后对支气管哮喘疗效的影响

目的观察鼻窦内镜术(endoscopic sinu ssurgery，ESS)对慢性鼻窦炎伴支气管哮喘患者哮喘发作的影响。方法对210例慢性鼻窦炎患者施行ESS术，其中伴有支气管哮喘病史者42例(20．0％)。210例患者均于术前、术后采用酶联免疫吸附测定法(ELISA)检测外周血单个核细胞(PBMC)培养上清液中的白细胞介素4(IL-4)，干扰素γ(IFN-γ)，可溶性白细胞介素2受体(sIL-2R)和可溶性IgE低亲和力受体(solube CD23，sCD23)的含量，并与20例正常对照组进行比较。通过主观和客观标准评定42例患者哮喘发作及对皮质类固醇的耐受状况，并对术后患者进行为期1年(10例)和3年(32例)的随访。结果鼻窦炎合并支气管哮喘患者术前PBMC培养上清液中IL-4，sIL-2R、sCD23含量较对照组显著升高，而IFN-γ含量较对照组显著减少。术后IL-4、sIL-2R、sCD23含量较对照组显著降低，而IFN-γ含量显著增高。术后哮喘改善水平由随访术后1年的45％提高到术后3年的70％。42例中32例(76％)哮喘发作次数明显减少，术前长期服用类固醇的2l例中，14例(67％)减少了对口服类固醇的使用。结论ESS对慢性鼻窦炎伴支气管哮喘患者的治疗有较满意的远期疗效。ESS能调节IL-4、IFN-γ sIL-2R、sCD23水平，降低哮喘的发作频率和对类固醇的依赖。