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.     

Neurochemical studies on the mesolimbic circuitry of antinociception

Previous studies using the technique of microinjection into brain nuclei indicated that the periaqueductal gray (PAG), nucleus accumbens, habenula and amygdala play an essential role in pain modulation and that these nuclei possibly act through a ‘mesolimbic neural loop‘ to exert an analgesic effect, in which Met-enkephalin (MEK) and β-endorphin (β-EP) have been implicated as the two major opioid peptides involved in antinociception. In the present study performed in rabbits, intracranial microinjection was supplemented with push-pull perfusion and radioimmunoassay to determine whether the release of enkephalins (ENK) and β-EP was increased in these nuclei when the putative neural circuit was activated by morphine administered into one of the nuclei. The results showed: (1) microinjection of morphine into the PAG increased the release of ENK and β-EP in the N. accumbens, and vice versa; (2) microinjection of morphine into the N. accumbens increased the release of ENK and β-EP in the amygdala, and vice versa; (3) morphine microinjected into the PAG caused an increase in the release of ENK and β-EP in the amygdala and vice versa, although the release of ENK in PAG was statistically not significant. These results indicate that PAG, N. accumbens and amygdala are connected in a network served by a positive feedback circuitry.     

食管癌患者血缘亲属及不同性别食管癌患病风险比较研究

目的 对比分析食管癌病例组与对照组血缘亲属食管癌患病风险,并了解食管癌家族中危险亲属人群患病的新线索.方法 采用病例对照研究方法 ,对食管癌病例组及对照组各720例进行逐层分析,以比较两组各血缘亲属父系、母系食管癌患病危险度(OR)的大小及差异.结果 (1)病例组Ⅰ级亲属食管癌患病危险度(1.34%～2.24%)显著高于对照组(0.78%～1.21%)(P＜0.01);Ⅰ级亲属中病例组父母亲食管癌患病危险度为6.11%,显著高于对照组父母亲食管癌患病危险度2.97%(P＜0O01).(2)以血缘亲属中父系和母系亲属逐层分析可见,病例组父系食管癌患病危险度(0.87%～1.01%)与母系患病危险度(0.50%～0.79%)均显著高于对照组父系食管癌患病危险度(0.53%～0.65%)与母系患病危险度(0.38%～0.47%)(P＜0.05).进一步分析显示,病例组父系中男性亲属与母系中女性亲属,即父系中祖父、父亲、叔伯食管癌患病危险度为2.68%与母系中外祖母、母亲、姨的食管癌患病危险度1.91%均显著高于对照组父系中男性亲属食管癌患病危险度1.50%与母系中女性亲属食管癌患病危险度0.92%(P＜0.01).结论 山西省食管癌患者血缘亲属发病危险主要是父亲及其兄弟、母亲及其姐妹,其下代患食管癌风险要大.     

试析陆懋修从阳明论治温病之特色

陆懋修（1818-1886），又名免研，字九芝，号江左下工，又号林屋山人，江苏元和（今江苏吴县）人，为清代后期著名的医学家。陆氏出身于官宦之家，儒医兼通，陆氏秉承家学，对先人的医学成就颇为敬重。他曾三十余年坚持潜心研究《内经》、《伤寒》等医学经典著作，终于贯通医理而成为一代名医。陆氏一生博览群书之余，著述不断，     

宫腔镜在辅助生殖技术中的应用

目的：探讨宫腔镜检查术在辅助生殖技术中应用的重要性。方法：对150例拟行辅助生殖技术的不育妇女行常规宫腔镜检查。结果：宫腔镜150例中47例（31％）有镜下异常，其中：子宫内膜息肉或息肉样增生18例（12％），子宫内膜单纯性增生17例（11％），子宫畸形7例（5％），宫腔粘连狭窄3例（2％），子宫内膜结核1例（0．7％），子宫黏膜下肌瘤或腺肌瘤1例（0．7％）。以宫腔镜诊断为标准，阴道超声诊断敏感性、特异性、阳性预测值、阴性预测值、准确率分别为66％（31／47）、98％（101／103）、94％（31／33）、86％（101／117）、88％（132／150），子宫造影分别为26％（12／47）、100％（95／95）、100％（12／12）、73％（95／130）、75％（107／142）。结论：宫腔镜检查术具有良好的可接受性和准确性，应作为辅助生殖技术前的常规检查。     

Evaluation of left ventricular mechanical dyssynchrony as determined by phase analysis of ECG-gated SPECT myocardial perfusion imaging in patients with left ventricular dysfunction and conduction disturbances

Background  Cardiac resynchronization therapy (CRT) is approved for the treatment of patients with advanced systolic heart failure and evidence of dyssynchrony on electrocardiograms. However, a significant percentage of patients do not demonstrate improvement with CRT. Echocardiographic techniques have been used for more accurate determination of dyssynchrony. Single photon emission computed tomography (SPECT) myocardial perfusion imaging has not previously been used to evaluate cardiac dyssynchrony. The objective of this study is to evaluate mechanical dyssynchrony as described by phase analysis of gated SPECT images in patients with left ventricular dysfunction, conduction delays, and ventricular paced rhythms. Methods and Results  A novel count-based method is used to extract regional systolic wall thickening amplitude and phase from gated SPECT images. Five indices describing the phase dispersion of the onset of mechanical contraction are determined: peak phase, phase SD, bandwidth, skewness, and kurtosis. These indices were determined in consecutive patients with left ventricular dysfunction (n=120), left bundle branch block (n=33), right bundle branch block (n=19), and ventricular paced rhythms (n=23) and were compared with normal control subjects (n=157). Phase SD, bandwidth, skewness, and kurtosis were significantly different between patients with left ventricular dysfunction, left bundle branch block, right bundle branch block, and ventricular paced rhythms and normal control subjects (all P<.001) Peak phase was significantly different between patients with right ventricular paced rhythms and normal control subjects (P=.001). Conclusions  A novel SPECT technique for describing left ventricular mechanical dyssyn-chrony has been developed and may prove useful in the evaluation of patients for CRT. This study was funded in part by a research grant from the Medtronic-Duke Strategic Alliance, of which Dr Borges-Neto is the primary investigator.     

纵隔支气管囊肿CT误诊1例

患者男性,29岁。因体检发现纵隔肿物17天入院。无胸、背痛及胸闷、气促、呼吸困难,无咳嗽、咳痰及咯血。查体:生命体征平稳,双肺呼吸音清晰、未闻及干湿性罗音及胸膜摩擦音。胸透及胸部CT:右后下纵隔类圆形占位,密度较均匀,CT值20~22HU,肿物不随呼吸运动活动。CT诊断:右后下纵隔神经源性良性肿瘤(图1,2)。于全麻下行右后下纵隔肿瘤切除术,病理诊断:(右后下纵隔)支气管源性囊肿。讨论:纵隔支气管囊肿属先天性异常,为前肠囊肿的一种,多见于儿童和青年人。大部分位于气管、支气管周围,多在隆突下和右气管旁。最常见的临床症状是胸痛,无症状…     

单纯玻璃体切除术治疗细菌性眼内炎的疗效评价

目的 评估单纯行玻璃体切除术对外因性细菌性眼内炎的疗效。方法 外因性细菌性眼内炎21例(21只眼)，其中白内障摘除联合人工晶状体植入术后1只眼，眼球穿通伤后20只眼。均作睫状体平部三切口玻璃体切除术，晶状体混浊者一并切除，若有球内异物一并取出，伴视网膜脱离者，重水或气／液交换复位视网膜后行眼内炎光凝、长效气体或硅油填充以及巩膜环扎，术中灌注液内不加入庆大霉素，术毕不作玻璃体腔注药，术后联合抗生索和激素静脉用药。结果 炎症控制20只眼，术后矫正视力提高20只眼，有效率为80．95％。结论 玻璃体切除术对严重细菌性眼内炎而言是最重要的治疗手段。