Objective:To investigate the clinical and genetic characteristics of Simpson-Golabi-Behmel syndrome (SGBS) type Ⅰ caused by glypican-3 ( GPC3) gene mutations. Methods:Data of one neonate with SGBS type Ⅰ from Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medical University was reviewed retrospectively. Literature was retrieved to summarize the clinical and genetic characteristics of SGBS type Ⅰ caused by GPC3 mutations, using terms of "Simpson-Golabi-Behmel type Ⅰ", "GPC3" and "glypican-3" from China National Knowledge Infrastructure, VIP database, Wanfang database, and PubMed from January 2010 till April 2021. Results:The male infant was admitted to the hospital at 4 h after birth due to "abdominal distension for 1 h", presenting with dysmorphic facial features, including macrocephaly, coarse face, broad nasal bridge, macrostomia, tongue with a groove in the middle, as well as macrosomatia, supernumerary nipples, and hypospadias. Whole exome sequencing revealed a novel frameshift mutation (c.720delC) in GPC3 gene of the patient and his mother for hemizygous and heterozygous variation, respectively, based on which SGBS type Ⅰwas confirmed. During the follow-up, overgrowth, neuroblastoma, and motor development retardation were found in the boy. In addition to the index patient, 92 cases of SGBS type Ⅰ reported in 31 articles were analyzed, including 89(95.7%) males and 4(4.3%) females. The main clinical features were craniofacial dysmorphism, pre/postnatal overgrowth with multiple congenital anomalies. Most patients were combined with language disorders, motor retardation, and various degrees of dysnoesia, and were more likely to develop embryonic tumors. Among the 93 cases, 11(11.8%) suffered from tumors. Apart from 21 cases of termination, 63 cases were born alive and nine cases died after birth. Pathogenic variants in GPC3 gene were reported in 80 cases, which were nonsense mutation in 25 cases (31.2%), DNA fragment deletion in 21 cases (26.2%), frameshift mutation in 16 cases (20.0%), large duplications in eight cases (10.0%), missense mutation in five cases(6.2%), and splice site mutation in five cases(6.2%). Conclusions:SGBS type Ⅰ is an X-linked recessive genetic disease with various phenotypes. Patients with postnatal craniofacial dysmorphism, overgrowth, and multiple congenital anomalies should be highly suspected of SGBS type Ⅰ. Genetic testing is conducive to its early diagnosis. Treatment requires multidisciplinary cooperation and long-term follow-up, especially for those with tumors.

Objective To investigate the theory of mind ( TOM) and eye basic emotion recognition in benign epilepsy children with centrotemporal spikes( BECT) . Methods Totally 51 BECT patients( BECT group) and 51 healthy controls( control group) were studied by Yoni task and Eye Basic Emotion Discrimi-nation Task (EBEDT). Results ①Compared with healthy controls,BECT got significantly lower score ((54. 02±6. 03) vs (58. 04±5. 41),F(1,100)=10. 34,P<0. 05))in Yoni task,especially in affective(hot) TOM .②There was no significant difference between the BECT group(M(P25,P75):103(96,108)) and the control group(M(P25,P75):105(96,110))in the total score of Eye Basic Emotion Discrimination Task(Z=-1. 37,P>0. 05),but got significantly lower score in recognizing sadness(M(P25,P75):16(14,17) vs 18 (15,19),Z=-3. 05,P<0. 05)and fear(M(P25,P75):15(14,17) vs 16(16,18),Z=-2. 21,P<0. 05).③Pearson or Spearman correlation analysis showed that there was no significant correlation between the total score of TOM and the age,age of onset, education,seizure total number,MMSE,the Digital Span test, the verbal fluency test and eye basic emotion recognition ( r=-0. 257-0. 908,all P>0. 05) . Conclusion BECT children have impairments in sadness and fear emotion recognition and TOM aspects.

Objective To explore the feasibility of transesophageal echocardiography (TEE) guided transthoracic incision closure of aortic sinus aneurysm rupture (RASA).Methods Data of 30 patients with RASA underwent TEE guided transthoracic incision closure of RASA were retrospectively analyzed.The distance between the coronary artery ostium and crevasse was measured in right coronary sinus aneurysm rupture patients.During the operation,the guide wire and sheath pipe were guided accurately into rupture mouth of aortic sinus aneurysm with TEE.After the operation,the position of closure and the function of aortic valves were checked carefully,while in right coronary sinus aneurysm rupture patients,coronary ostium should not be occluded by the occluder.Results Totally 20 of 30 patients accepted interventional treatment successfully.Right coronary sinus aneurysm rupture was found in 10 patients,including 7 with rupture developing into right ventricle and 3 with rupture into right atrium.Posterior coronary sinus tumor rupture was found in 10 patients,including 8 with rupture developing into right atrium and 3 with rupture into right ventricle.Patients who received intervention treatment successfully had stable vital signs,and no obvious changes of heart cavity structure and cardiac function was found.Postoperative multiple reexaminations showed all patients had normal closure position,aortic valve opening and closing movement was normal.No stenosis,reflux signal nor residual shunt were found.Conclusion RASA can be diagnosed accurately with TEE,and the occluder can be placed guided by TEE.TEE guided transthoracic incision closure of RASA is a feasible method.

Objective To investigate the ability of decision-making under risk condition in benign epilepsy children with centrotemporal spikes (BECT).Method Seventy-eight BECT patients and seventyfive healthycontrols were studied by Iowa Gambling Task (IGT) with inexplicit probability and Game of Dice Test (GDT) with explicit probability.Results (1) There was a significant difference in IGT task scores between the two group (t=-2.56,P＜0.05).The total number of advantageous choices in IGT were lower in BECT group (49.35±5.38) than that in healthy control group (52.24±6.23).BECT group (-1.41 ± 10.60) performed worse on task than healthy control group (4.43±11.88),and the difference was statistically significant (t=-3.21,P＜0.05).The control group scored higher on Blockl,Block4 and Block5 than that of BECT group (P＜0.05).(2) There was no significant difference between the BECT group (4.42±7.74) and the control group(5.49±6.81) in the GDT test scores (t=-0.91,P=0.37).(3) Pearson correlation analysis showed that there was no significant correlation between the age,age of onset,education,seizure frequency and onset duration and the score of IGT and GDT (r =-0.091-0.274,all P ＞ 0.05).Conclusion There is no significant decision-making disability in children with BECT under the condition of certain risk probability,while there is significant impairment under the condition of uncertain risk probability.The decision-making disability may be associated with impaired frontal lobe function.

Objective To assess the application of intraoperative transesophageal echocardiography for occluding the rupture of aortic sinus aneurysm ( RASA ) by cardiac interventional therapy via mini thoracotomy . Methods After anesthesia transesophageal echocardiography ( TEE ) was performed in patients with RASA to confirm or correct primary diagnosis from transthoracic echocardiography( TTE) and to predict the operative effect . During the operation the guide wire and Sheath pipe were accurately guided into rupture mouth of aortic sinus aneurysm by TEE . After the operation ,the position of closure and the function of aortic valve need to check carefully . Results Collection of 38 patients with aortic sinus aneurysm rupture ,20 patients who can be received interventional therapy were select by TEE . Sixteen patients accepted interventional treatment successfully ,including 8 cases with non‐coronary sinus tumor to break into the right atrium ,5 cases with non‐coronary sinus tumor to break into the right ventricle ,and 3 cases with right coronary sinus tumor to break into the right ventricular outflow tract ( 3 cases) . The patients who received intervention treatment successfully had stable vital signs ,and no obvious changes of heart cavity structure and cardiac function in normal . Postoperative multiple reexamination ,all patients showed the normal closure position ,aortic valve opening and closing movement . And no stenosis and reflux signal ,no residual shunt was detected . Conclusions TEE can confirm or correct primary diagnosis of TTE before the operation and guide the surgery operator to place the closure correctly during the operation and evaluate the effect of the treatment after the operation .

Objective To explore the value of echocardiography in the diagnosis of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) in children.Methods The echocardiographic images of 14 patients with ALCAPA confirmed by operation and 18 patients with endocardial fibroelastosis (EFE) diagnosed by clinical were compared and analyzed.Results Both ALCAPA and EFE exhibited obvious dilated left ventricle,decreased left ventricular systolic function,thick endocardium and mitral regurgitation of different degree.The former additionally showed dilated right coronary artery(RCA) with normal origin,left coronary artery(LCA) emerging from the root or wall of the pulmonary artery(PA),the retrograde flow into PA in LCA and abundant collateral vessels in myocardium.However the later exhibited normal diameter of LCA and RCA and no collateral vessels.Conclusions Color Doppler echocardiography not only demonstrates left ventricular systolic function,endocardium,mitrial regurgitation and collateral vessels in myocardium,but also shows the origination and courses of LCA clearly,which provide exact informations to diagnose ALCAPA.The echocardiography can be used as a powerful tool of ALCAPA diagnosis and preoperative assessment.

Objective To assess the consistency of four standardized cystatin C particle-enhanced turbidimetric assay (PETIA) and one particle-enhanced nephelometric immunoassay (PENIA) measurement systems Methods Performance verification test was conducted according to CLSI EP 15-A2 and EP9-A2. Fourty serum samples in comparative test were obtained from the remaining serum samples of outpatients in Peking Union Medical College Hospital in March 2013.Fourty serum samples were tested on Olympus AU5400 automatic biochemical analyzer ( four PETIA Cys C reagents:Shanghai Jingyuan Co ., Ltd, Beijing Leadman Biochemistry Co ., Ltd, Beijing Strong Biotechnologies , Maker Biotechnology in Sichuan , and labelled as A, B, C, D respectively) and PENIA N Latex Cys C measurement system on Siemens BNⅡ(labelled as E).Correlation analysis were performed among four PETIA methods one PENIA method Differences of each detection system were compared in the medical decision level 1,2,3,4 mg/L.The reference material ERM-DA471/IFCC was measured by five systems and bias ( percentage bias ) was calculate for each system.Results Results of systems A, B, C, D, E were 1.29(0.89-2.43), 1.30 (0.96-2.59), 1.22(0.90-2.44), 1.27(0.96-2.47), 1.14(0.82-2.05)mg/L.Chart shows bias among these five systems was small when Cys C concentration was less than 4mg/L.PETIA method A, B, C, D correlated with their mean value well , with the average deviation from their mean value ( percent deviation) at -0.017 -0.031 mg/L ( -3.1%-2.1%), and all were less than allowed bias from the biological variation (3.4%).The deviation of PETIA method A, B, C, D with their mean value in medical decision level at -0.176 -0.178 mg/L.Systems A, B, C, D correlated well with the result of PENIA method system E , and the mean deviation ( percent deviation ) was at 0.278 -0.326 mg/L ( 12.6%-18.5%) , and the deviation ( percent deviation ) in the medical decision level 0.055 -1.079 mg/L (5.51%-26.98%).Bias of PETIA method A, B, C, D Cys C system measuringERM -DA471/IFCC ranged from 0.22 to 0.39 mg/L ( 3.9%-7.0%) , which exceeded the allowable range of the reference material target value, and were larger than the allowable bias from biological variation (3.4%).Bias ( percent ) of PENIA method system E was -0.1 mg/L ( -1.7%) , within the allowable range of ERM-DA471/IFCC target value .Conclusions The consistency of four assesed PETIA Cys C reagents was relatively ideal, and improved markably after being traced to ERM-DA471/IFCC.Besides, the results of PETIA were higher than those of PENIA .Bias among these five systems was small when Cys C concentration was less than 4 mg/L, and the bias became larger in higher Cys C concentration.

Objective To observe the clinical effect of moxibustion on body sub-health fatigue state.Methods 120 cases of body sub-health patients were randomly divided into A,B,C three groups,with 40 cases in each group.Group A was treated with moxibustion,group B was treated with acupuncture therapy,and group C (control group) did not receive any measure of treatments.Fatigue scale (FS) was adopted to the three groups respectively for measuring physical fatigue score,mental fatigue score and total fatigue score before and after the treatment.Treatment efficacy was evaluated and analyzed after three weeks of continuous treatment.Results The total score of fatigue scale was 6.10 ± 2.47、6.82± 2.36、and 10.10±2.66 respectively in group A,group B and group C.Compared with group C,the difference in group A and group B was statistically significant (P＜0.01).Compared with group B,the difference in group A was not statistically significant (P＞0.05) ; The Physical fatigue points of group A,B,C was 2.46± 2.06、3.60 ± 2.24 and 5.03 ± 2.66 respectively.Compared with C group,the difference in group A and group B was statistically significant (P＜0.01).Compared with group B,the difference in group A was statistically significant (P＜0.05).Conclusions Moxibustion and acupuncture can effectively improve patients total body sub-health state of fatigue.Moxibustion treatment showed better effects in alleviating physical fatigue,

Objective To explore the relation and measures prevention between aspirin and relapsing haemorrhage after operation in cerebral haemorrhage patients. Method It' s a prospective control study. A total of 725 patients with hypertensive basal ganglia cerebral haemorrhage admitted to department of neurosurgery from January 2001 to May 2007 were enrolled. They were diagnosed according to the diagnostic criteria set by the fourth national cerebrovascular disease conference in 1995. Haematoma volume was ＞ 50 mL. All patients were treated with craniotomy. And those with respiration and circulation failure, neurologic function deficit before the onset of the disease,major organ dysfunction, haemorrhagic disease and bleeding tendency or applied medicines affecting coagulation function excepted aspirin were excluded. The patients without use of aspirin before the onset of the disease were operated as the control group(group A), and there were 389 patients in group A.The patients with use of aspirin before the onset of the disease were randomly assigned to group B and C group,and there were 168 patients in group B or group C.The patients in group C received the frozen apheresis platelets. We counted different haematoma volume of relapsing haemorrhage after operation,death rate,ADL scores grades by 6 months follow-up survey in three groups. Quantitative data were expressed as mean ± standard deviation (-x ± s). The data were analyzed by using Chi-square test and Student's t test and rank sum test with SPSS 13.0 statistical package. A P value less than 0.05 indicated statisticals significance. Results Haematoma volume of relapsing haemorrhage was (40.59 + 20. 061 )mL, (53.21 ± 21.260) mL, (40.68 ± 19.517) mL in groups A, B, C,respectively. There was significant difference between group A and group B ( P ＜ 0.01 ), between group B and group C ( P ＜ 0.05), but there was no significant difference between group A and group C(P ＞ 0.05). ADL scores grades at 6-month follow-up was (67.04 ± 26. 176), (54.47 ± 29.403 ), (68.21 ± 25.254) in groups A, B, C, respectively. There was more significant difference between group A and group B, in ADL scores grades and the death rate between group B and group C (P ＜ 0.01), but there was no significant difference between group A and group C (P ＞ 0.05). Conclusions Aspirin can increase the occurrence rate of haemorrhage after operation, disablement and death in cerebral haemorrhage patients, but frozen apheresis platelets can reduce the occurrence rate.

Objective To evaluate the value of echocardiography method for diagnosis of the downward displacement of the posterior leaflet of tricuspid valve with apical right heart two chamber view (AP-RH-2CV). Methods Rotating the probe clockwise from apical four chamber view(AP-4CV) to AP-RH-2CV at the septial and posterior leaflet of tricuspid valve, the shape, moving and position of the posterior leaflet of the tricuspid valve were observed by displaying the degree of downward displacement of the septial and posterior leaflet of tricuspid valve. The location of the orifice of tricuspid regurgitation was examined by color Doppler flow imaging(CDFI). Results In 15 patients with Ebstein's anomaly from the AP-RH-2CV, the downward displacement of posterior leaflet of tricuspid valve was clearly observed at the AP-RH-2CV. These results of echocardiography were confirmed by surgery except one ease missing out mild downward displacement of the anterior leaflet of tricuspid valve. Moreover, all 15 patients showed the obvious downward displacement of the location of the orifice of tricuspid regurgitation from AP-RH-2CV by CDFI. Conclusions The AP-RH-2CV is an ideal view in diagnosis of the downward displacement of the posterior leaflet of tricuspid valve by echocardiography. The downward displacement of the location of the orifice of tricuspid regurgitation is a critical character for diagnosis of the downward displacement of the posterior leaflet of tricuspid valve by CDFI.