Tethered cord syndrome is a severe and congenital disease. Resecting the diseased ilium terminal(FT), eystis, lipoma is the main treatment for the disease, relieving the injury to the eonus medullaris. Why the FT is diseased and thickened? Is it necessary to eut internal FT or external FT? What is the injury mechanism of the low-positional or normal positional oonus medullaris? To study the component and structure of the conus medullaris and FT may give definite answers.

Objective To investigate the effect of laparoscope combined with ureteroscope for the treatment of hepatolithus. Methods 98 patients were randomly divided into two groups:the study group(laparoscope combined with ureteroscope group) and the control group (the open surgery group). The mean blood loss, the recovery of the stomach and intestines function, hospital stay and the rate of complications were observed. Results Compared with the open surgery group,the mean blood loss,the recovery of the stomach and intestines function,and hospital stay in the study group had statistically significant difference (all P＜0. 05). Compared with the open surgery group, the time of surgery and the patients carryingT tubes in the study group had statistically significant difference (all P＜0. 05). Compared with the open surgery group, the rate of gallstone removal、the rate of gallstone residual and the rate of injures in the study group had no statistically significant difference(all P＞0. 05). Conclusion Laparoscope combined with ureteroscope in patients with hepatolithus had the advantage of less trauma, faster postoperative recovery and fewer complications. It was safe and effective,so it was worth to recommend its clinical use.

Objective To investigate the factors affecting the cosmetic results in the breast cancer treated with breast conservation to get the better cosmetic results.Methods Treated breasts were scored by the plastic surgeon and the patient independently.Mann-Whitney U test was used in univariate analyses whereas logistic regression was used in multivariate analyses.Results In the surgeon's evaluation, the satisfactory rate was 65.7 %.In univariate analyses,age(P=0.003),body mass index(BMI)(P=0.002),menopausal status(P=0.002),the radiation dose(P=0.022),the number of the incisions as the tumour was located in the outer-upper quadrant(P=0.036),the resection times(P=0.036),fibrosis(P=0.002),the type of surgery(P=0.002) were the significant factors affecting cosmetic results.In multivariate analyses,fibrosis,the type of surgery and the radiation dose(P=0.009,0.001,0.019) were the significant factors affecting cosmetic results.In the patient's evaluation,the satisfactory rate was 76.1%.In univariate analyses,the type of surgery (P=0.001) and fibrosis(P=0.045) were found to be significant factors. In multivariate analyses using logistic regression,the type of surgery(P=0.005) were the most significant factors.Conclusions The satisfactory rate has positive correlation between the surgeon and the patient.In the twenty-seven possible factors affecting the cosmetic results,age,body mass index,menopausal status,radiation dose,the number of the incisions as the tumour located in the outer-upper quadrant,the resection times,fibrosis and the type of surgery are the main factors affecting the cosmetic results significantly.

ObjectiveTo investigate the role of platelet in mouse pulmonary microvascular endothelial cell (PMVEC) injury caused by lipopolysaccharide( LPS)-activated neutrophil.MethodsPMVECs were obtained from pathogen-free C3H/HeN mice of both sexes aged 6-8 weeks weighing 18-25 g according to the method described by Lim YC et al.Platelets and neutrophils were isolated from mouse blood by twice centrifugation and denaity gradient centrifugation respectively.PMVECs were seeded into twelve- or six-well plates ( 1 or 2 ml/well) after 2-5 passages and were randomly divided into 4 groups (n =31 each): group LPS; group platelets (group P);group neutrophils (group N) and group platelets + neutrophils (group PN).Each well contained about 5 × 107/ml platelets and/or 5 × 105/ml neutrophils respectively.PMVECs were incubated with LPS1 μg/ml at 37 ℃ in a 5％ CO2 humidified atmosphere for 1,6,12,18 and 24 h respectively in all 4 groups.The cells were examined with phase contrast microscope for morphological changes and survival condition.Viability rate,apoptotic rate and activation rate of PMVECs were detected by flow cytometry at each time points.ResultsThere was no significant difference in morphology and number of endothelial cells (ECs) among the 4 groups,while the number of activated ECs was significantly increased but the number of living cells decreased in group PN compared with group LPS.The activation rate of ECs was significantly higher after being incubated with LPS for 6-12 h in groups P and N than in group LPS.The viability rate was significantly lower,while the apoptotic rate and activation rate were significantly higher after ECs were incubated with LPS in group PN than in groups LPS,P and N.ConclusionPlatelets play a decisive role in mouse PMVEC injury induced by LPS activated neutrophils.

Seventy-five preschool children with hemoglobin content below 11 g/dl in kindergartens and nurseries were divided into five groups. The first, second and third groups were given 10 mg, 20 mg and 30 mg of iron in the form of ferrous sulfate syrup respectively every day for two months, while the fourth and fifth groups were given 100 mg ascorbic acid and 100 mg ascorbic acid plus 10 mg iron respectively every day for one month. The average hemoglobin content in the order of the five groups were 9.6?1.16, 10.6?1.34, 9.7?0.91, 9.7?0.85 and 11.0?1.86 g/dl respectively before treatment. After 1-2 months of iron or ascorbic acid therapy, the average hemoglobin contents raised to 12.0?.31, 12.0?1.06, 12.0?0.79, 11.0?1.86 and 12.7?1.37 g/dl respectively. There were highly significant differences (P

OBJECTIVETo identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.

METHODSGenomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.

RESULTSThere were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).

CONCLUSIONThis GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.

Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Conserved Sequence ; DNA Mutational Analysis ; Epilepsy, Generalized ; complications ; genetics ; Exons ; genetics ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Receptors, GABA-A ; chemistry ; genetics ; Seizures, Febrile ; complications ; genetics

OBJECTIVE:To establish the method for simultaneous determinations of rutin,forsythin and platycodin D in Sangju ganmao pills.METHODS:HPLC-MS method was adopted.The determination was performed on Waters Atlantis C18 column with mobile phase consisted of acetonitrile-0.1％ formic acid (gradient elution) at the flow rate of 0.2 mL/min.The column temperature was set 35 ℃,and sample size was 10 μL.The ionization mode was electrospray ion,and the reaction mode was multi-reaction monitoring.By positive ion detection mode,the drying gas and nebuliser gas were all high purity nitrogen.The drying gas temperature was 270 ℃.The drying gas flow rate was 25 L/min.The sheath gas flow rate was 10 L/min.The capillary voltage was 4 500 V.The nozzle voltage was 2 000 V and the scanning time was 0.1 s.RESULTS:The linear range of rutin,forsythin and platycodin D were 0.010 82-2.164 μg/mL (r=0.999 7),0.010 18-2.036 μg/mL (r=0.999 4),0.010 27-2.054 μg/mL (r=0.999 7),respectively The limits of quantification were 1.250,0.260,2.720 ng/mL,and the limits of detection were 0.380,0.078,0.820 ng/mL.RSDs of precision,stability and reproducibility tests were all no more than 3.0％.The recoveries were 97.88％-99.88％ (RSD=0.72％,n=6),98.48％-103.13％ (RSD=1.91％,n=6),98.79％-101.41％ (RSD=1.05％,n=6).CONCLUSIONS:This method is simple,precise,stable and reproducible,and can be used for simultaneous determination of rutin,forsythin and platycodin D in Sangju ganmao pills.

OBJECTIVETo investigate the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance.

METHODSTwenty-three patients consistent with the diagnosis of SMEI were selected for SCN1A mutation analysis. Genomic DNA was extracted from peripheral blood lymphocytes of these patients and their parents. All the twenty-six exons of the SCN1A gene were amplified by PCR and sequenced.

RESULTSIn the 23 SMEI patients, 17 mutations were identified in 17 unrelated SMEI patients. The SCN1A mutation rate was 73.9% (17/23). The mutations included 8 missense mutations (F90S, I91T, A239T, W952G, T1210K, V1335M, V1390M and G1433E), 3 nonsense mutations (R612X, W768X and W1408X), 3 deletion mutations (A395fsX400, L556fsX557 and V1778fsX1800), 1 insertion mutation (Y1241fsX1270), 1 splice-site mutation (IVS10+3 A to G) and 1 synonymous mutation (K1492K), of which 47.1% (8/17) were truncation mutations. Thirteen mutations (F90S, I91T, T1210K, V1335M, G1433E, R612X, W768X, A395fsX400, L556fsX557, V1778fsX1800, Y1241fsX1270, IVS10+3A to G and K1492K) have not been reported previously. Except for F90S, L556fsX557 and V1778fsX1800, the other 14 mutations were de novo.

CONCLUSIONSCN1A is a major pathogenic gene for SMEI. About a half of the SCN1A mutations in SMEI cause truncation. There were no hotspots of SCN1A mutations in SMEI patients, and most mutations were de novo.

Adolescent ; Age of Onset ; Amino Acid Sequence ; Child ; Child, Preschool ; Chromosome Mapping ; Codon, Nonsense ; DNA Mutational Analysis ; Epilepsies, Myoclonic ; diagnosis ; genetics ; Exons ; genetics ; Female ; Genotype ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation, Missense ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Sequence Alignment ; Sequence Deletion ; Sodium Channels ; genetics

Objective The aim of this study was to evaluate the clinical and phychology profile after total cavopulmonary connection procedure and to identify the significant determinants of quality of life.Methods Data from 21 patients underwent total cavopulmonary connection procedure from January 2008 to December 2015 were retrospectively analyzed.Patients under went echocardiography aud cardiopulmonary exercise testing.Used ST-36 questionnaire to perceived health status.The NT-ProBNP levels was test.Results 21 patients aged between 19 to 36 years(mean 26.6 years) were enrolled.The mean follow-up time was(44.2 ± 29.9) months.The mean EF was (59.4 ± 6.2) ％,and the peak oxygen uptake was (19.9 ± 3.6) ml · kg-1 · min-1,perceut predict value was(52.5 ± 8.9) ％.SF-36 score was well.Independent risk for impaired exercise capacity was interval time from surgery.Conclusion The exercise capacity of total cavopulmonary connection patients was impaired.Identify more predict factors of the quality of these patients need further study.

Objective:To investigate the prognosis and risk factors for children diagnosed with all types of subaortic stenosis(SAS) who developed recurrent left ventricular outflow tract obstruction after surgical treatment.Methods:The study retrospectively included patients aged 0-18 years old who underwent open heart SAS surgery at Fuwai Hospital from 2016-2019. Children with hypertrophic obstructive cardiomyopathy were excluded. Detailed operative notes, medical records and ultrasound information, and follow-ups were extracted. Recurrent SAS was defined as left ventricular outflow tract gradient 30 mmHg(1 mmHg=0.133 kPa) 1 month after SAS surgical treatment.Results:A total of 137 children were included in this study. The medium age of children at the time of SAS surgery was 4.6 years old(3 months-17.8 years old). After a median follow-up of 4.36 years(3.2-5.7 years), a total of 30 patients developed recurrent LVOTO, with a recurrence rate of 21.9%, and 7(5.1%) underwent a second surgery. Compared to the non-recurrent group, children in the recurrent group were younger at the time of surgery( P=0.0443), had a smaller body surface area( P=0.0485), and a longer length of stay( P=0.0380). In Cox analysis, when only considering preoperative variables, the independent risk factor for LVOTO recurrence were a peak left ventricular outflow tract gradient higher than 50 mmHg( HR=5.25, P=0.001), a BSA less than 0.9( HR=2.5, P=0.023), and a length of SAS 5 mm( HR=2.29, P=0.050). When both preoperative and intraoperative variables were considered, preoperative peak left ventricular outflow tract gradient 50 mmHg( HR=4.91, P=0.002) and peeling from the aortic valve( HR=3.23, P=0.010) were independent risk factors for postoperative recurrence. Conclusion:Recurrent LVOTO after SAS surgical repair is common, and regular postoperative follow-up is crucial to evaluate whether a secondary intervention is required. Regular postoperative follow-up is needed for children at high risk.