Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations

Background

Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown.

Cardiac Rhabdomyoma: A Surrogate Diagnosis of Tuberous Sclerosis Complex in a Newborn Baby: Case Report from Tikur Anbessa University Hospital

BackgroundNeonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestationsCase PresentationWe reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Furthermore, non-contrast brain magnetic resonance imaging revealed sub-ependymal nodules and cortical tubers. Therefore, a clinical diagnosis of neonatal tuberous sclerosis complex with heart failure was made. Then, the patient was initiated on diuretic treatment with oxygen by nasal catheter with subsequent improvement. Seizure was not occurred yet in the last three and half years of follow-up. Currently, the patient is thriving well with no symptomsConclusionDetection of prenatal or early neonatal age, cardiac rhabdomyoma is a useful clue to the diagnosis of tuberous sclerosis complex in neonates. Proper clinical evaluation of patients at the time of first contact prevents missing of findings such as skin macules and chest X-ray findings, which helped us to diagnose tuberous sclerosis complex in the present case     

夏天无中生物碱类化学成分的研究

对夏天无中的生物碱类化学成分进行系统研究。通过硅胶、RP-C₁₈、Sephadex LH-20柱色谱、重结晶、薄层色谱和高效液相色谱等技术,从夏天无块茎95%乙醇提取物中分离得到13个化合物,其结构运用现代波谱技术结合理化性质分别鉴定为:四氢巴马亭(1),氧化北美黄连次碱(2),doryanine(3),巴马亭(4),毕枯枯灵(5),四氢小檗碱(6),四氢黄连碱(7),紫堇定(8),epicorynoxidine(9),N-methylcorydaldine(10),(+)-corlumine(11),N-methyl-6,7-dimethoxyisoquinolone(12)和氧化血根碱(13)。其中化合物2、3、6、7、9~13为首次从该植物中分离得到,化合物2、3、9~13 为首次从该属植物中分离得到。此外,药理实验表明,四氢巴马亭(1)可能具有镇痛或镇静的作用,毕枯枯灵(5)可能具有诱发癫痫的作用。     

Cortical glucose metabolism correlates negatively with delta-slowing and spike-frequency in epilepsy associated with tuberous sclerosis

The mechanism of altered glucose metabolism seen on positron emission tomography (PET) in focal epilepsy is not fully understood. We determined the association between interictal glucose metabolism and interictal neuronal activity, using PET and electrocorticography (ECoG) measures derived from 865 intracranial electrode sites in 11 children with focal epilepsy associated with tuberous sclerosis complex (TSC) (age: 0.5-16 years) undergoing epilepsy surgery. A multiple linear regression analysis was applied to each patient, to determine whether the glucose uptake at each electrode site on interictal PET was predicted by ECoG amplitude powers and interictal spike-frequency measured in the given electrode site. The regression slopes as well as R-square values (an indicator of fitness of the regression models) were finally averaged across the 11 patients. The mean regression slope for delta amplitude power was -0.0025 (95% CI: -0.0045 to -0.0004; P = 0.02 based on one-sample t-test) and that for spike frequency was -0.023 (95% CI: -0.042 to -0.0038; P = 0.02). On the other hand, the mean regression slopes for the remaining ECoG amplitude powers (theta, alpha, sigma, beta, and gamma activities) were not significantly different from zero. The mean R-square value was 0.39. These results suggest that increased delta-slowing and frequent spike activity were independently and additively associated with glucose hypometabolism in children with focal epilepsy associated with TSC. Association between frequent interictal spike activity and low glucose metabolism may be attributed to slow-wave components following spike discharges on ECoG recording, and a substantial proportion of the variance in regional glucose metabolism on PET could be explained by electrophysiological traits derived from conventional subdural ECoG recording.     

颅内皮层大结节对结节性硬化症患者癫癎预后的影响

目的：明确颅内皮层大结节对结节性硬化症（T SC ）患者癫?发作及其预后的影响。方法：通过对颅内皮层结节的测量寻找颅内皮层大结节,定义为在皮层结节长宽高3个平面中,至少有2个平面的直径≥3 cm。观察颅内皮层大结节对T SC患者癫?发作及其预后的影响。结果：本研究共入组89例伴有癫?发作的T SC患者,其中男性53例,女性36例,癫?发病年龄最小为出生后1个月,最大为28岁。通过测量皮层结节发现36例（40％）患者符合本研究定义的皮层大结节。经统计学分析发现皮层大结节与痉挛发作史（ P＝0．022）、多种发作类型（ P＝0．014）、智力低下（ P＝0．024）及难治性癫?（ P＝0．041）等方面差异有统计学意义。结论：颅内皮层大结节的患者容易出现痉挛发作及多种发作类型,患者更易出现智力低下和难治性癫?,因此对于存在皮层大结节的患者需考虑早期手术治疗。     

成都市儿童青少年谷、薯类摄入情况与青春期发育关系

目的分析成都市儿童青少年谷、薯类食物摄入情况与青春期发育的关系。方法采用分层整群随机抽样法选取成都市1902名7~18岁儿童青少年作为研究对象,分别采用食物频率调查表和现场观测收集膳食和青春期发育的数据。结果被调查男生发生初遗的平均年龄为12.8岁,女生发生初潮的平均年龄为12.3岁。已发生初遗男生比未发生初遗者谷类的摄入量高(P<0.0001),而已发生初潮女生较未发生初潮者谷类的摄入量低(P<0.01)。男生的谷类摄入量随青春期发育程度升高而逐渐增加(P<0.0001);发育早期组女生谷类的摄入量最高,女生的薯类摄入量随青春期发育程度升高而逐渐降低(P<0.05)。结论成都市儿童青少年谷、薯类食物的摄入可能与青春期发育相关,且存在性别差异。     

UPLC-Q-TOF-MSE结合相对保留时间在线快速鉴定麦冬中甾体皂苷类成分

目的:采用超高效液相色谱-飞行时间质谱(UPLC-Q-TOF-MSE)表征并快速在线鉴定麦冬中甾体皂苷类成分;结合呋甾皂苷在反向色谱上的保留规律,鉴别同分异构体。方法:运用2种反相色谱柱(ACQUITY UPLC HSS T3和Agela Venusil XBP C18-2),在2种溶剂系统(0.1%甲酸/水-0.1%甲酸/乙腈,丙酮-水)和3个洗脱条件下对系列呋甾皂苷的色谱保留规律进行总结。利用UPLC-Q-TOF-MSE对麦冬成分进行分析,获得质谱数据。结果:3种色谱条件下呋甾皂苷的相对保留时间一致,呈现如下保留规律:甾体皂苷中糖链结构相同,苷元上羟基的数目越多保留时间越短;仅羟基位置不同时,保留时间为1位羟基17位羟基14位羟基;仅C-26位糖链糖基连接位置不同时,葡萄糖-(1→6)-葡萄糖葡萄糖-(1→2)-葡萄糖;从麦冬表征的图谱中共鉴定了21个色谱峰,其中14个呋甾皂苷,7个为螺甾皂苷。结论:色谱保留时间能为呋甾皂苷同分异构体的液质联用在线鉴定提供有益的数据支持。     

Are cortical tubers epileptogenic? Evidence from electrocorticography

The purpose of this study was to characterize the epileptogenicity of tubers and surrounding cortex in patients with tuberous sclerosis complex (TSC). Three pediatric patients with TSC and intractable epilepsy underwent surgical resection of tubers associated with epileptogenic foci. In all patients, presurgical imaging revealed a prominent tuber that correlated on electroencephalography (EEG) with frequent interictal epileptiform discharges and electrographic seizures. Intracranial electrocorticography (ECoG) was performed using subdural grids placed over the tuber and surrounding cortex and depth electrodes positioned directly within the tuber. In all three patients, the depth electrode within the tuber was electrographically silent, whereas the surrounding cortical tissue showed significant epileptiform activity. The tuber and the electrically active adjacent cortex were resected. The patients experienced a drastic reduction in seizure frequency postsurgery. Epileptogenicity of cortical tubers may derive not from the lesion itself, but rather from the perturbation or abnormal development of the surrounding cortex.