Cancer stem cells is a small fraction of cells exist in cancers and own the same characteristics of stem cells. It has recently been shown that cancer stem cells in some tumours contain lower reactive oxygen species(ROS) levels and enhanced ROS defence radioresistance. The DNA damage induced by p53 tumor suppressor protein is associated with self cancer stem cells. We have reviewed the biological characteristics including self- renewal, drug resistance, heterogeneity and so on. As to the genesis of the cancer stem cells,some researchers believe that they arise from normal adult stem cells, progenitor cells or mutation of somatic cells, while others consider that cancer stem cells are derived from cell fusion and so on.

Objective To study the clinical features and gene mutations of early - onset epileptic encephalo-pathy(EOEE)of unknown causes and to identify pathogenic mutations of EOEE by next generation sequencing. Methods The clinical data of 62 cases diagnosed with unexplained EOEE between June 2013 and June 2015 were ob-tained and analyzed. Specimens were collected from the selected children and their parents. Next generation sequencing was used to detect epilepsy - related genes,and Sanger sequencing was performed to verify the results and confirm the source of the parents,further to identify suspected pathogenic mutations of EOEE. Results Among 62 cases with unex-plained EOEE,37 cases(61% )were diagnosed as non - specific EOEE,17 cases(27% )with West syndrome,6 ca-ses(10% )with Dravet syndrome,1 case(1% )with Ohtahara syndrome,1 case(1% )with early myoclonic epileptic encephalopathy. The pathogenic mutations were not detected among 17 cases with West syndrome and the early myoclonic epileptic encephalopathy. Among 37 cases with non - specific EOEE,suspected pathogenic mutations were detected in 7 cases. Three cases of missense mutations for PCDH19 gene,1 case of frame - shift mutation and 1 case of splice site mutation for CDKL5 gene,1 case of denovo nonsense mutation for KCNQ2 gene,and 1 case of missense muta-tion for GRIN2A gene were detected. Among 6 children with Dravet syndrome,2 cases of frame - shift mutations and 1 case of missense mutation for SCN1A gene were detected,of which 2 cases were of frame - shift mutations,1 case was denovo mutation,1 case of missense mutation for SCN1A gene and 1 case of missense mutation for SCN1A combined with SCN9A gene were detected. One case of denovo nonsense mutation for STXBP1 gene was detected. After treatment, 22 cases with clinical seizures were under control,and 40 cases were out of control. Conclusions The clinical pheno-types for children with unexplained EOEE were varied. SCN1A,SCN9A,STXBP1,PCDH19,CDKL5,KCNQ2 and GRIN2A genes detected in China are in accordance with those reported internationally and some gene sites are denovo mutations which have not been reported. The SCN9A gene may be the new pathogenic mutation for Dravet syndrome. And the KCNQ2 gene nonsense mutation may be the lethal mutation.

The development of precision medicine in 21st century has accelerated a new area of medicine,bringing a precise project of diagnosis and treatment.The new techniques for genetic diseases including next generation sequencing and copy number variation detection technology have facilitated the diagnosis and treatment of genetic and rare diseases in children's neural system,providing a new directed therapies especially for creatine deficiency syndromes,pyridoxine dependent epilepsy,glucose transporter type 1 deficiency syndrome,malignant migrating partial seizures in infancy,GRIN2A-related early-onset epileptic encephalopathy,KCNQ2-related epilepsies.With the new area of precision medicine arrival,an epoch-making revolution for the diagnosis and treatment of genetic and rare diseases in children's neural system is coming towards us.

Hemorrhage ; genetics ; Humans ; Mutation ; Recurrence ; alpha 1-Antitrypsin ; genetics

Codon, Nonsense ; Epilepsy ; genetics ; Humans ; KCNQ2 Potassium Channel ; genetics

OBJECTIVE:To observe the clinical efficacy and safety of Feijin zhitong capsule combined with methotrexate and tripterygium glycosides in the treatment of rheumatoid arthritis. METHODS:70 patients with rheumatoid arthritis were randomly di-vided into control group(34 cases)and observation group(36 cases). Control group received Methotrexate for injection by intrave-nous infusion,10 mg every times,once a week;and also Tripterygium glycosides tablet,10 mg every times,bid,po. Observa-tion group additionally received Feijin zhitong capsule,3 capsules every times,bid,po. The treatment course for both groups was 6 months. The clinical efficacy,symptoms and signs,erythrocyte sedimentation rate (ESR),rheumatoid factor (RF),C-reactive protein(CRP),interleukin(IL)-1,IL-6,IL-8 and TNF-α levels before and after treatment in 2 groups were observed,and the in-cidence of adverse reactions was recorded. RESULTS:The effective rate in observation group was 85.71%,which was significant-ly higher than control group(70.59%),the difference was statistically significant(P<0.05). After treatment,duration of morning stiffness,joint pain index,joint swelling index,joint tenderness index,ESR,RF,CRP,IL-1,IL-6,IL-8 and TNF-α in 2 groups were significantly lower than before,and observation group was lower than control group,the differences were statistically signifi-cant (P<0.05 or P<0.01). And there was no significant difference in the adverse reactions in 2 groups (P>0.05). CONCLU-SIONS:Feijin zhitong capsule combined with methotrexate and tripterygium glycosides has good efficacy and safety in the treat-ment of rheumatoid arthritis,it can reduce the inflammatory index level,improve symptom and sign.

Objective To find out the cerebral blood flow velocity and its relationship with attention and execu?tion function in patients with major depressive episode. Methods A total of 70 patients with major depressive episode and 65 healthy controls were included. The 24 items Hamilton depression scale (HAMD-24) was adopted for patients' depressive symptoms assessment. The Cancellation Test (CT) and Wisconsin Card Sorting Test (WCST) were adopted for cognitive function assessment. And the blood flow velocity of cerebral arteries were detected by transcranial Doppler ul?trasonography (TCD). Results Compared with the controls, the patients showed significantly slower average blood flow ve?locity in basilar artery, left middle cerebral artery, right middle cerebral artery, left anterior cerebral artery and right ante?rior cerebral artery (P<0.05). Compared with those in the controls, the net score of each stage and the total net score of CT were significantly lower in the patients, while the total number of responses, response errors, perseverative errors and the necessary response number to complete the first category of WCST were significantly higher (P<0.01). The blood flow velocity in the cerebral basilar artery (r=0.25), left middle cerebral artery (r=0.46), right middle cerebral artery (r=0.25) and right posterior cerebral artery (r=0.26) showed positive correlations with total net score of CT (P<0.05), and the cere?bral artery average blood flow velocity showed negative correlations with the total number of responses, response errors and perseverative errors of WCST in the patients (P<0.05). Conclusions Compared with healthy controls, patients with major depressive episode suffer from lower average cerebral artery blood flow velocity, bad attention and executive func?tion. The change of average cerebral artery blood flow velocity may be responsible for impaired cognitive function in epi?sode major depression patients.

Objective To investigate the clinical application value of strong ion gap(SIG)generated by the third generation equa-tion following pH and the anion gap(AG)in critically ill patients.Methods On the basis of the determination results of blood gas and blood biochemistry,the equation in the Stewart-Figge methodology was adopted to calculate SIG.Results (1)There were sta-tistically significant differences in K+ ,Na+ ,HCO3 - ,AG,pH,PO4 3 - ,ALB,SIG and Cr between the critical illness groups and the control group(P <0.05).(2)The SIG mean value ratio the death group to non-death group was 3.04,the difference was the big-gest,P <0.05,AG and Cr took the second place.Conclusion SIG as a new indicator in combination with other biochemical and blood gas indicators,such as the HCO3 - ,AG,pH,PO4 3 - ,Cr and lactic acid can reflect the situation of the acid-base disorders in critically ill patients and plays a strong indicative role in predicting the disease development trends.

Objective:To investigate the effects of laparoscopic surgery versus open surgery on acute appendicitis in children. Methods:We retrospectively analyzed the data of 50 children with acute appendicitis who underwent surgery in Zhoushan Women and Children Hospital from December 2016 to December 2019. They were randomly divided into observation ( n = 27) and control ( n = 23) groups. The observation group underwent three-port laparoscopy. The control group underwent open surgery. Operation-related indicators, postoperative recovery, parental satisfaction, and complications were compared between the two groups. Results:Operative time was significantly longer in the observation group than in the control group [(56.57 ± 5.35) minutes vs. (40.23 ± 6.31) minutes, t = 9.78, P < 0.001). Intraoperative blood loss was significantly less in the observation group than in the control group [(10.11 ± 2.36) mL vs. (18.36 ± 3.21) mL, t = 10.45, P < 0.001]. Duration of pain was significantly shorter in the observation group than in the control group [(1.23 ± 0.23) days vs. (2.98 ± 0.87) days, t = 10.06, P < 0.001). Time to postoperative exhaust was significantly shorter in the observation group than in the control group [(21.39 ± 4.35) minutes vs. (39.88 ±5.39) minutes, t = 13.35, P < 0.001]. Time to defection was significantly shorter in the observation group than in the control group [(50.12 ± 3.35) minutes vs. (61.23 ± 4.21) minutes, t = 10.33, P < 0.001]. Time to first diet was significantly shorter in the observation group than in the control group [(13.25 ± 2.56) hours vs. (19.96 ± 2.67) hours, t = 9.07, P < 0.001]. Length of hospital stay in the observation group was significantly shorter in the observation group than in the control group [(4.13 ± 1.12) days vs. (7.98 ± 1.96) days, t = 8.53, P < 0.001). Parental satisfaction was significantly higher in the observation group than in the control group [96.30% vs. 47.83%, χ2 = 13.360, P < 0.001]. The incidence of complications was significantly lower in the observation group than in the control group [7.41% vs. 52.17%, χ2 = 10.58, P < 0.001]. Conclusion:Laparoscopic surgery is superior and safer to open surgery in the treatment of acute appendicitis in children.

Objective To investigate the expression of LncRNA LINC00857 in pancreatic cells and the effect of lncRNA LINC00857 down-regulation on proliferation, migration and apoptosis of pancreatic cancer PANC-1 cells and possible mechanism. Methods The lentiviral vector GV112 was constructed and infected PANC-1 cells to obtain experimental group, while the blank plasmid was transfected as a negative control group and the cells without intervention were taken as normal control group. CCK-8 assay, Transwell assay, scratch test, flow cytometry, Western blot were used to detect the effect of LINC00857 down-regulation on cell proliferation, migration, apoptosis, cell cycle and EMT-related proteins. Results LINC00857 expression in pancreatic cancer cells were significantly higher than that in normal pancreatic epithelial cells (P < 0.001). Knockdown of LINC00857 could significantly inhibit the proliferation and migration of PANC-1 cells (P < 0.0001); compared with the negative control group, the apoptosis rates of cells in the experimental groups were significantly increased (P < 0.05), the number of cells in G₀/G₁ phase increased (P < 0.01), the number of cells in S phase decreased (P < 0.05), and the cells were blocked in the G₁ phase, E-cadherin expression was significantly up-regulated (P < 0.05) and N-cadherin and Vimentin expression were significantly down-regulated (N-cadherin: P < 0.01, Vimentin: P < 0.05). Conclusion LINC00857 can promote proliferation and migration of PANC-1 cells and inhibit its apoptosis by regulating G₁/S phase transition and EMT signaling pathway.