Tuberous sclerosis complex (TSC) is an involving multiple organs and tissues of the rare autosomal dominant genetic disease.There are various clinical manifestations in patients with TSC and its diagnosis based on clinical characteristics.Diagnostic criteria of TSC include clinical diagnosis and gene diagnosis standard.

0.05). The total costs were(1 184.93?321.72),(1 532.59?426.35) and (1 830.35?311.83)yuan, respectively(P

Objective To evaluate the value of digital subtraction angiography(DSA) in diagnosis and planning endovascular treatment of cerebrovascular diseases. Methods Thirty-one children suspected with ischemic cerebrovascular diseases were treated by urokinase and dextran after they underwent DSA.Results Twenty-four cases (77%) had cerebrovascular abnormalities. Two cases had arteriovenous malformations, 1 case had posterior communicating artery aneurysm,21 cases had cerebrovascular stenosis or occlusions. Shortly after intervention therapy using urokinase,muscle strength increased by one level in 13 cases,two levels in 3 cases,3 levels in 2 cases and no effect in 4 cases. The total effective rate reached 86%. Seven patients with ischemic stroke achieved 100% recanalization. Conclusion DSA is very important in diagnosis of cerebrovascular stenosis and occlusion.

Tuberous sclerosis complex (TSC) is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.The diverse and varied presentations and progression can be life-threatening with significant impact on quality of life.The 2012 international Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with TSC.

Objective To study the factor affecting the efficiency of establishment of parthenogenetic stem cells (PESCs)in mice. Methods PESC lines were derived from parthenogenetically activated blastocyst inner cell mass of different mice strains and cultured in different systems.Results The efficiency of establishing the pESC showed no significant difference in hybrid and inbred lines.But the efficiency was increased in culture systems added with ERK inhibitor or knockout serum replacement(KSR).Conclusion The efficiency of establishment of pESC was not directly related with the genetic background of mice but it was closely related to the culture systems.

Tic disorders (TD) is a kind of neuropsychiatric disorders developing during childhood and cha-racterized by tics.In August 2020, the TD Consortium Neurology Group of Chinese Pediatric Society, Chinese Medical Association has developed an English version of Expert Consensus on Diagnosis and Treatment of Tic disorders in children to help improve the diagnosis, treatment and long-term management of TD, as well as international communication.Now the consensus is interpreted as follows, including its pathophysiology, clinical characteristics, diagnosis, comorbidity, treatment and prognosis.

Objective To investigate the clinicopathological features of primary hepatocellular carcinoma of the liver(PCCCL)and assess the over-all survival rate of PCCCL after hepatectomy and the association between prognosis and clear cell ratio in PCCCL.Methods The clinicopathological data of 43 patients with PCCCL treated with hepatectomy in our hospital from January 1999 to December 2003 were retrospectively analyzed.Results X2 test showed a positive rate of HCV infection(14.0%)and capsule formation(88.4 0A)in the PCCCL group markedly higher than the positive rate of HCV infection(1.2%)and capsule formation(65.0%)in the CHCC group(P=0.000 and 0.005).Meanwhile,the vascular invasion rate was notably Iower in the PCCCL group(53.4%vs.65.0%),but there were no significant differences between the two groups(P=0.129).Kaplan-Meier method showed that the1-,3-and 5-year survival rates were significantly higher in the PCCCL group than in the CHCC group(81%,53%and 39%vs.76%,46%and 32 0A,P=0.021).The prognosis of patients in the PCCCL group was related to capsule formation.vascular invasion,liver cirrhosis and clear cell ratio.The 1-,3-and 5-year survival rates were markedly higher in the group with higher clear cell ratio (≥75%,subgroup B)than in group with lower clear cell ratio(＜75%,subgroup A)(80 0A,43%and 23%vs.85 0A,77% and 68%,P=0.011).Conclusion The notable clinicopathologicaI features of the patients with PCCCL are higher rates of HCV infection.capsule formation and lower rate of vascular invasion.Their prognosis is better than the patients with CHCC and related with the ratio of clear cell.

Objective To explore the potential changes of connexin Cx36 in hippocampus and cortical neurons of rats with hyperthermia -induced convulsion.Methods Rats were divided into 2 groups according to the random number table method:normal control group and experimental group.Febrile convulsion model was elicited through im-mersion in warm water.The experimental group was generated following febrile convulsion model:hyperthermia group and febrile convulsion group.Among normal control group,hyperthermia group and febrile convulsion group,western blot analysis and immunofluorescence labeling techniques were used to examine the expression of Cx36 protein in the hippo-campus and cortex area.One -Way ANOVA was used to compare the mean of multiple sample,the LSD test was used to compare the two means.Tamhane′s test was used when variance were uneven.Results The incubation period,seizure duration and temperature were (4.39 ±0.08)min,(5.38 ±0.07)min,(41 .87 ±0.06)℃ after hyperthermia-in-duced convulsion,respectively.Western blot analysis showed that the expression of Cx36 protein in the hippocampus and cortex area decreased gradually after 1 0 times of seizure in normal control group,hyperthermia group and febrile convulsion group,and the febrile convulsion group decreased most obviously.Compared with normal control group and hyperthermia group,respectively,in febrile convulsion group Cx36 expression obviously decreased in the hippocampus and cortex in rats with 1 ,5,1 0 seizure times induced by hyperthermia,and with the increase of number of induced con-vulsion,the expression of Cx36 was significantly decreased in the cortex (0.1 04 ± 0.01 2)and CA1 (0.091 ± 0.01 1 ),CA3 (0.090 ±0.01 1 )and DG (0.092 ±0.01 2)areas of hippocampal neurons compared with the normal control group (0.21 2 ±0.01 7,0.1 67 ±0.01 3,0.1 59 ±0.01 4,0.1 71 ±0.01 3)and the hyperthermia group (0.1 89 ± 0.006,0.1 44 ±0.008,0.1 29 ±0.005,0.1 65 ±0.01 1 )(all P <0.05).Furthermore,the extent of reduction in Cx36 expression seemed to correlate with the number of seizures.Conclusion With the increase of thermal seizure frequen-cy,Cx36 expression of rats was decreased obviously which may lower convulsion threshold and lead to recurrent seizures.

Objective To investigate the differential diagnosis of Reye syndrome and the characteristics of primary carnitine deficiency,and to provide diagnostic strategy for similar cases.Methods There was a case presented with fever,poor response,convulsions and hepatomegaly hospitalized in Wuhan Children's Hospital,and the clinical manifestations were described,the physical examination was comprehensively conducted,the auxiliary examination results were recorded,some pediatric specialists from ICU,neurology department,genetic metabolic department,digestive system department were invited to discuss the case.The treatment was adjusted according to the suggested opinions;the treatment effects and the final diagnosis were tracked.Results The primary diagnosis of the case was central nervous system infection or toxic encephalopathy at the time of admission,but Reye syndrome could not be excluded.Although the cerebrospinal fluid test and brain MRI examination detected nothing abnormal,liver function suggested alanine aminotrans ferase ALT increase,blood sugar decrease,the liver volume increase,which was detected by liver ultrasound.Blood amino acids examination revealed the carnitine level decreased,and it was confirmed as primary carnitine deficiency in the end.L-carnitine was used to treat the disease,and its effect was good.Conclusions Great importance should be attached to children with onset age,physical check-up,and multidisciplinary cooperation.Use monism to explain the illness and the auxiliary inspection as far as possible,so that it can get early diagnosis and treatment,and the outcome is good.

OBJECTIVE To study the rules of prelaryngeal node metastases in different glottic carcinoma in order to provide basic information for standard operation the laryngeal cancer. METHODS Prelaryngeal lymph node dissection was performed in 92 cases with glottic carcinoma.The differences of tumor staging, pathological typing, postoperative cervical or local recurrence, survival time were compared and analyzed between the groups of positive and negative prelaryngeal node. RESULTS There were 5 cases (5.4%) with positive prelaryngeal node among 92 cases. The prelaryngeal nodes in advanced laryngeal cancer (III, IV stage) was more easily to be metastasized than those in early stages (I, II), the difference was statistically significant. There was no significant difference in prelaryngeal node metastasis among different pathological types.The local and regional recurrence rates in positive prelaryngeal lymph node metastasis group were higher than those in the negative group, the difference was statistically significant. Compared with positive group, the negative group had a longer survival time,and the difference was statistically significant. CONCLUSION The rate of prelaryngeal node metastases is high in patients with advanced glottic carcinoma. Once the prelaryngeal node metastases occur, the recurrence rate will be increased and the prognosis is poor, that suggest the importance of standardized treatment.