OBJECTIVE:To study the improvement effect of Poria cocos peels water extract(PWE)on liver fibrosis in rats in-duced by carbon tetrachloride(CCl4). METHODS:84 rats were randomly divided into blank control group,solvent control group, model control group, positive control group (Compound biejia ruangan tablet, 0.75 g/kg), PWE low-dose, medium-dose, high-dose groups (0.9,1.8,3.6 g/kg,calculated by crude drugs),12 in each group. Except for blank control group and solvent control group(ip vegetable oil),other groups received CCl4-vegetable oil solution to reduce liver fibrosis model,ip. After model-ing,each administration group received related medicines,ig,other 3 groups received equal volume of normal saline,once a day, for 4 weeks. After administration,enzyme-linked immunosorbent assay was used to detect the aspartate aminotransferase(AST),al-anine aminotransferase(ALT),laminin(LN),hyaluronic acid(HA),hydroxyproline(Hyp)contents in serum and reduced gluta-thione (GSH),superoxide dismutase (SOD),malondialdehyde (MDA) contents in liver tissue of rats;HE staining and Masson staining were adopted to observe the pathological changes of liver tissue. RESULTS:Compared with blank control group,indexes of rats in solvent control group had no obvious changes(P>0.05). AST,ALT,LN,HA,Hyp contents in serum and MDA con-tent in liver tissue in model control group were significantly increased(P<0.05);GSH,SOD contents in liver tissue were signifi-cantly reduced(P<0.05);and liver tissue showed obvious fibrosis lesions. Compared with model control group,AST,ALT,LN, HA,Hyp contents in serum and MDA content in liver tissue in PWE medium-dose,high-dose groups were significantly reduced (P<0.05);GSH,SOD contents in liver tissue were significantly increased(P<0.05);fibrosis degree of liver tissue was obvious-ly relieved. CONCLUSIONS:PWE shows good improvement effect on liver fibrosis of rats induced by CCl4,which may be related to inhibiting the lipid peroxidation.

Objective To discuss the effect of neonatal congenital hypothyroidism (CH)screening in preterm infants.Methods The result of 208 713 cases neonatal congenital hypothyroidism screening in Guangzhou neonatal screening center were analyzed,including 11589 cases preterm infant and 197 124 cases of full term.The difference of screening positive rate and incidence between preterm infants and full term infants group were compared and the efficiency of preterm infants congenital hypothyroidism screening were estimated.Results A total of 208 713 newborns were screened and the screening positive rate was 1.39%.123 cases were confirmed positive for CH and the incidence rate was 1 /1 697.124 cases were screening positive in preterm infants and the screening posi-tive rate was 1.06%.14 cases were confirmed positive for CH and the incidence rate was 1 /828 in preterm infants group.2 771 cases were screening positive in full term infants and the screening positive rate was 1.41%.109 cases were confirmed positive for CH and the incidence rate was 1 /1 809 in full term group.The screening positive rate was lower and the incidence rate of preterm infants group(χ2 =4.89,P <0.05)was higher than that of the full term infants group(χ2 =8.26,P <0.05).Conclusion The incidence rate of congenital hypothyroidism is higher in preterm infants.Neonatal screening is an effective measure for early diagnosis of preterm infants congenital hypothyroidism.

Objective To investigate the association of PR gene exon 5 region H770H (rs1042839) single nucleotide polymorphism (SNP) with the genetic susceptibility to endometriosis (EM) in southern Han Chinese women. Methods Totally 431 EM patients and 499 non-EM women were collected and separated into EM group and control group, that all cases were confirmed by operation and pathology. A case-control study was performed in EM and control groups to evaluate the association of these SNP with the susceptibility to EM by using a fluorescent quantitative PCR-based high resolution melting (HRM) method. Results The C and T of PR H770H allele frequencies among the EM and control groups were 97.9%(844/862), 2.1% (18/862) and 99.4% (992/998), 0.6% (6/998), respectively. The CC, CT and TT of PR H770H genotype frequencies among the EM and control groups were 95.8%(413/431), 4.2%(18/431), 0 and 98.8%(493/499), 1.2%(6/499), 0, respectively. There were statistical significances in the PR H770H alleles and genotypes distributions between the two groups (χ2=7.386, P=0.007;χ2=8.135, P=0.004). Carrying allele C reduced the risk of EM (OR=0.986, 95%CI: 0.976-0.996), while carrying allele T enhanced the risk of EM (OR=3.319, 95%CI: 1.323-8.325); carrying genotype CC reduced the risk of EM 0.970 time (OR=0.970, 95%CI: 0.949-0.991), whereas carrying genotype CT enhanced the risk of EM 3.473 times (OR=3.473, 95%CI:1.391-8.671). Conclusion There is significant association between the polymorphism of PR H770H and genetic susceptibility to EM in southern Han Chinese women.

BACKGROUND:Cytokine induced kil er cells therapy as an effective means of adoptive immunotherapy, becomes a new way to treat acute myeloid leukemia. But, the researches about sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation in acute myeloid leukemia patients are stil less, which deserve further research.
OBJECTIVE:To observe the clinical efficiency and safety of sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation in acute myeloid leukemia M2 patients.
METHODS:Total y 45 patients with low-or intermediate-risk acute myeloid leukemia M2 were recruited in this study. Among them, 19 patients received sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation and 26 patients only received autologous peripheral blood stem celltransplantation. The relapse rate, disease-free survival, and overal survival were compared between two groups, and safety of cytokine induced kil er cells therapy was observed.
RESULTS AND CONCLUSION:(1) Compared with the patients only receiving autologous peripheral blood stem celltransplantation, the relapse rate was lower (21.05%vs. 38.46%;P<0.05), and elevated percentages of the disease-free survival and overal survival were observed in the patients receiving sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation (P<0.05). (2) The 19 patients who received sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation al completed the treatment scheme successful y. Only four patients appeared to have chil s and fever, and no more side effects were observed. These findings suggested that the sequential cytokine induced kil er cells therapy after autologous peripheral blood stem celltransplantation can improve the disease-free survival and overal survival of low-or intermediate-risk acute myeloid leukemia M2 patients without remarkable side effects, which is a safe, effective and feasible way for the treatment of acute myeloid leukemia M2.

OBJECTIVETo compare the photosynthetic characteristics of Notopterygium incisum and N. forbesii in order to provide basic data for introduction and cultivation of the two wild medicinal species.

METHODThe light-response, CO2-response and Chlorophy II fluorescence parameters of leaves at the booting stages between N. incisum and N. forbesii, were analyzed in situ by Li-6400 Portable Photosynthesis system under natural conditions.

RESULT1) The light saturation point (LSP) was 1539 micromol x m(-2) x s(-1) for N. incisum and 1464 micromol x m(-2) x s(-1) for N. forbesii, the maximum net photosynthetic rate (Pmax) was 22.95 micromol x m(-2) x s(-1) for N. incisum and 19.65 micromol x m(-2) x s(-1) for N. forbesii, the apparent quantum yield (AQY) was 0.0509 for N. incisum and 0.0470 for N. forbesii, LSP, AQY and Pmax of N. incisum were significantly higher than those of N. forbesii; the light compensation point (LCP) was 17.92 micromol x m(-2) x s(-1) for N. incisum and 26.69 micromol x m(-2) x s(-1) for N. forbesii, LCP of N. incisum was significantly lower than that of N. forbesii. 2) The carbondioxide compensation point (CCP) were 33.41 micromol x mol(-1) for N. incisum and 37.82 micromol x mol(-1) for N. forbesii, the carbon dioxide saturation point (CSP) were 988 micromol x mol(-1) for N. incisum and 1150 micromol x mol(-1) for N. forbesii, CCP and CSP of N. incisum were significantly lower than N. forbesii; the carboxylation efficiency (CE) were 0.0591 for N. incisum and 0.0459 for N. forbesii; the maximum rate of RuBP regeneration (Jmax) were 28.18 micromol x m(-2) x s(-1) for N. incisum and 25.32 micromol x m(-2) x s(-1) for N. forbesii; the light respiration rate (Rd) were 1.971 micromol x m(-2) x s(-1) for N. incisum and 1.736 micromol x m(-2) x s(-1) for N. forbesii, CE, Jmax and Rd of N. incisum were higher than those of N. forbesii. 3) The primary light energy conversion of PS II (Fv/Fm) was 0.8213 for N. incisum and 0.8257 for N. forbesii, wihich didn't showed significant difference, between N. incisum and N. forbesii there was no photoinhibition.

CONCLUSIONBoth N. incisum and N. forbesii were C3 type plant, could perfectly acclimate to light condition. However, the weak light of N. incisum was absorbed significantly higher than that of N. forbesii, strong photosynthesis ability causes assimilation products accumulation of N. incisum obviously to be higher than that of N. forbesii.

Apiaceae ; drug effects ; metabolism ; radiation effects ; Carbon Dioxide ; pharmacology ; Dose-Response Relationship, Drug ; Dose-Response Relationship, Radiation ; Kinetics ; Light ; Photosynthesis ; drug effects ; radiation effects ; Plants, Medicinal ; drug effects ; metabolism ; radiation effects

Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PD<1 700 U/L or G6PD/6PGD<1 in red blood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PD< 2.6 U/g Hb , a total of 687(4.2%) newborns showed positive screening results, including 560 (6.4%) males and 127(1.7%) females. (2) Among the newborns with positive screening results, 214 males and 122 females were randomly chosen for G6PD gene analysis. The results showed that 197 (92.1%) males were hemizygote and 108(88.6%) females were mutation carriers with one to four alleles. Among the newborns with negative screening results, 41 males with G6PD 2.6-2.8 U/g Hb and 436 females with G6PD 2.6-4.5 U/g Hb were chosen for genetic analysis.Mutations were detected in 5(12.2%)boys, and 226(51.8%) girls were carriers.G6PD gene Sanger sequency of seven highly suspicious patients showed that c.406C>T, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PD<2.6 U/g Hb yielded a positive predict value(PPV) of 93.5%, a false-positive rate of 0.5%, and a sensitivity of 99.0% for males. A PPV of 88.5%, a false-positive rate of 0.2% . The prevalence of severe type G6PD deficiency in females was about 1.5%. Compared with to genetic analysis, the sensitivity and PPV of G6PD activity assay in red blood cells were 95.5%, 97.2%, respectively. Conclusions The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will improve the accuracy of diagnosis of G6PD deficiency and detect more heterozygous females.

Objective To study the influence of postnatal age and season of sample collection on congenital hypothyroidism (CH) screening and to determine the appropriate cut-off value. Method From January 2015 to December 2017, neonatal thyroid stimulating hormone (TSH) screening data in Guangzhou were retrospectively analysed. The infants were assigned into four groups according to sampling postnatal age:24～＜48 h, 48～＜72 h, 3～＜7＜d and≥7 d, and assigned into another four groups according to their birth seasons. Based on the data of 2015 and 2016, the cut-off value of TSH for hypothyroidism were adjusted. The data of 2017 were used to verify the accuracy of the adjusted cut-off value. The cut-off value was determined based on the receiver operating characteristic (ROC) curve and percentile method. Specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) of the cut-off value were also calculated. Result A total of 459854 newborns were screened from 2015 to 2016. 7329 were positive in preliminary screening, 371 were still positive after recall for re-examination, and 318 were confirmed with CH eventually. The optimal TSH cut-off value calculated using ROC curve was 9 mIU/L, with a percentage of 98.7. The cut-off value with sampling time≥48 h was set to 9 mIU/L in spring, summer and autumn, and 10 mIU/L in winter. The cut-off of sampling time 24～＜48 h was set to 10 mIU/L in all seasons. The data of 264993 newborns screened in 2017 were verified using the adjusted cut-off value. The overall positive rate was reduced from 1.27％to 1.02％, and the PPV was increased from 6.07％to 7.58％without adding false negative cases. Conclusion Adjusting cut-off values of TSH for CH screening according to postnatal age and season can effectively reduce false positive rates.

Objective: To explore the TPO, DUOX2 and DUOXA2 genotypes and phenotypes of children with permanent congenital hypothyroidism(PCH) suspected dyshormonogenesis in Guangzhou, identified and treated at Guangzhou Newborn Screening Center. Six of them were born between 2011 and 2012. Method: Retrospectively analyzed the clinical data of 9 children with PCH suspected dyshormonogenesis. Genetic analysis of TPO, DUOX2 and DUOXA2 genes were performed with Sanger sequencing. Result: Of the 9 patients, four were identified variants in TPO gene including three cases with biallelic variants and one case with monoallelic variant. Novel c. 1784G>C( p. R595T) variant in TPO was predicted to be damaging by SIFT and PolyPhen-2. Four patients harbored monoallelic known variants in DUOX2 gene and the other one harbored heterozygous known mutation c. 738C>G(p.Y246X) in DUOXA2 gene.Two adolescent patients with biallelic variants in TPO gene showed classical PCH phenotypes with thyroid goiter or nodules. The six patients with monoallelic variant in TPO, DUOX2 or DUOXA2 presented variable phenotypes. Among the 433 578 newborns in the 2011-2012 cohort, there were 156 cases of CH. Six of these cases were PCH suspected dyshormonogenesis, among which 1 case was confirmed TPO biallelic variants and 5 cases were monoallelic variants of TPO, DUOX2, or DUOXA2 genes. Conclusion TPO and DUOX2 variants are the common molecular pathogenesis in children with PCH suspected dyshormonogenesis. Monoallelic variants in TPO, DUOX2 or DUOXA2 are associated with PCH and showed wide variability in their phenotypes. The novel variant p. R595T in TPO is probably a pathologic variant. The prevalence of PCH caused by TPO gene defects is rare in Guangzhou.

Objective:To have a better understanding of congenital leukemia by summarizing its clinical features and prognosis.Methods:This study retrospectively recruited 10 neonates with congenital leukemia treated in Beijing Children's Hospital, Capital Medical University from January 2006 to December 2018. Clinical data including clinical manifestations, laboratory examinations, treatment and follow-up were described.Results:The 10 patients consisted of six boys and four girls. In all cases, symptoms presented within 11 d after birth. The admission complaints were jaundice ( n=4), polypnea ( n=3), fever ( n=2) and rash ( n=2). Physical examinations of the 10 patients showed eight with splenomegaly, seven with hepatomegaly and seven with petechia/skin rash. All patients had significantly increased white blood cell count (from 45.8×10 9/L to 553.0×10 9/L), complicated by different degrees of anemia and thrombocytopenia. By bone marrow biopsy, two cases were diagnosed as acute lymphoblastic leukemia and the other eight cases as acute myeloid leukemia. All cases refused chemotherapy on the preliminary diagnosis. Three cases lost follow-up and six died within two months after discharge requested by their parents. One baby had spontaneous remission, but relapsed two years later. Complete remission was achieved after strict management and no relapse was reported until ten years old. Conclusions:Congenital leukemia is a severe condition with high mortality. Some cases may achieve spontaneous remission, but long-term follow-up is needed.

Objective:To compare the clinical efficacies of O-arm combined with CT three-dimensional navigation system assisted screw placement versus manual screw placement in treating lower cervical fracture and dislocation.Methods:A retrospective cohort study was used to analyze the clinical data of 41 patients with lower cervical fracture and dislocation, who were treated in Honghui Hospital, Xi′an Jiaotong University from May 2021 to February 2022. The patients included 26 males and 15 females, aged 31.5-48.6 years [(41.5±15.0)years]. The injured segments were C 3 in 3 patients, C 4 in 12, C 5 in 13, C 6 in 10 and C 7 in 3. Nineteen patients were treated with cervical pedicle screws by O-shaped arm combined with CT three-dimensional navigation system (navigation group, 76 screws) and 22 by bare hands (traditional group, 88 screws). The total operation time, effective operation time, single nail placement time, single screw correction times, screw distance from anterior cortex, intraoperative blood loss, intraoperative fluoroscopic radiation dose, incision length and length of hospital stay were compared between the two groups, and the height of intervertebral space, Cobb angle, interbody slip distance and American Spinal injury Association (ASIA) grade were compared before operation and at 3 days after operation. Visual analogue score (VAS), Japanese Orthopedic Association (JOA) score, and neck dysfunction index (NDI) were evaluated before operation, at 3 days, 3 months after operation and at the last follow-up. Accuracy of screw placement and incidence of complications (adjacent facet joint invasion, infection, screw loosening) were detected as well. Results:All the patients were followed up for 11.1-13.9 months [(12.5±1.4)months]. The total operation time, intraoperative blood loss, intraoperative fluoroscopic radiation dose and incision length in the navigation group were more or longer than those in the traditional group (all P<0.05). The effective operation time, single nail placement time, single nail correction times and screw distance from anterior cortex in the navigation group were markedly less or smaller than those in the traditional group (all P<0.05). There was no significant difference in the length of hospital stay between the two groups ( P>0.05). There were significant improvements in the height of intervertebral space, Cobb angle and interbody slip distance between the two groups at 3 days after operation (all P<0.05). There was no significant difference in the height of intervertebral space, Cobb angle, interbody slip distance or ASIA grade between the two groups before operation or at 3 days after operation (all P>0.05). Compared with pre-operation, the VAS, JOA score and NDI were significantly improved in both groups at 3 days, 3 months after operation and at the last follow-up (all P<0.05), with further improvement with time. There was no significant difference in VAS between the two groups before operation or at 3 months after operation (all P>0.05), but it was markedly lower in the navigation group compared with the traditional group at 3 days after operation and at the last follow-up (all P<0.05). There were no significant differences in JOA score or NDI between the two groups before operation or at 3 days and 3 months after operation (all P>0.05), but both were lower in the navigation group compared with the traditional group at the last follow-up (all P<0.05). The accuracies of placement of grade 0 and grade 0+1 screws were 92.0% (70/76) and 96.6% (73/76) in the navigation group, respectively, which were markedly higher than 88.7% (78/88) and 93.5% (82/88) in the traditional group (all P<0.05). The rates of adjacent facet joint invasion of A, B, and C degrees were 71.2% (54/76), 28.8% (22/76) and 0% (0/76) in the navigation group, respectively, while the invasion rates were 60.5% (53/88), 32.3% (28/88) and 7.3% (7/88) in the traditional group ( P<0.05). No screw loosening was noted in the navigation group, but the screw loosening rate was 9.1% (8/88) in the traditional group ( P<0.01). Conclusion:Compared with manual screw placement, O-arm combined with CT three-dimensional navigation system assisted screw placement for lower cervical fracture and dislocation has the advantages of shorter effective operation time, quicker screw placement, stronger screw holding force, better cervical stability, slighter postoperative pain, higher screw placement accuracy, and lower facet joint invasion and screw loosening rates.