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.

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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.

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.

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 summarize the experience of unilateral endonasal transsphenoidal pituitary adeno-ma resection under neuroendoscopy. Methods 48 patients with pituitary adenoma were treated by unilateral en-donasal transsphenoid under neuroendoscopy. During the dissection of the adenoma, attention should be paid to pro-tect pituitary stalk and gland. Results The postoperative MRI detection revealed that the tumor was totally removed in 40(83.3%) cases,subtotally in 6(12.5%) ,and partially in 2(4.2%). All patients were followed up for 10 -36 months. Among the 38 patients with increased hormone level ,24 recovered to normal hormone level postoperatively; 14 were improved evidently;pituitary insufficiency was not found in 38 cases;7 patients have temporary diabetes in-sipidus but the symptom was released in three weeks. Conclusion The surgical treatment of pituitary adenoma by neuroendoscopic unilateral endonasal transsphenoid has its advantage in achieving both complete resection of tumor and sound protection of pituitary stalk and gland. Neuroendoscopic operation offers greater help in improving the pa-tients' quality of survival.

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 investigate the genotype-phenotype correlation between TSC1 and TSC2 associated tuberous sclerosis complex(TSC).Methods Nineteen infants with TSC were enrolled in the study.Their clinical manifestations and mutations of TSC gene were analyzed by chip capturing and next-generation sequencing.Results Among the total of 19 patients with TSC,13 TSC2 mutations and 4 TSC1 mutations were detected.The ratio of TSC2/TSC1 mutation-positive cases was 3.4/1.Six mutations were novel.There were epilepsy in 10 cases carrying TSC2 mutations,including 4 cases (31％) with refractory to antiepileptic treatment,and 3 cases carrying TSC1 mutations,including 1 case (25 ％)with refractory to antiepileptic treatment.The incidence and severity (grade 2)of epilepsy,brain imaging were not different in TSC2 and TSC1 patients(P =0.480 7,0.462 2).Compared with clinical manifestations,incidence of mental retardation (grade 1 or grade 2) was higher in TSC2 patients (85 ％,11/13 cases) than TSC1 patients (50 ％,2/4 cases).Also,the incidence of moderate and severe mental retardation (grade 2) was higher in TSC2 patients (54％,7/13 cases) in comparison with TSC1 patients(25％,1/4 cases).Compared with the phenotype of TSC2 and TSC1 patients,the frequencies of skin,renal and cardiac lesions were significantly higher in TSC2 patients than TSC1 patients.Conclusions TSC2 mutation may be the prominent molecular pathogenesis in Han population with TSC.TSC2 patients have much profound muhisystemitc leisions than TSC1 patients,including mental retardation,epilepsy,facial angiofibromas and renal angiomyolipomas etc,which should be confirmed further in domestic multicenter and large samples.