Objective To summarize and analyze the CT or MRI imaging signs of ovarian torsion in children.Methods The CT or MRI data of 24 children surgically confirmed ovarian torsion were analyzed retrospectively,focusing on imaging signs such as ovarian position,size,the relationship with surrounding appendages and uterus.Results In this group of cases,8 cases underwent CT examination and 16 cases underwent MRI examination.Among the age of children,12 cases were in newborns,and 6 cases were in school-age and adolescent children respectively.It was more common in newborns and children aged 10-12 years old.Among the 24 patients,3 cases(12.5％)had primary ovarian torsion,all of which were adolescent children;21 cases(87.5％)had secondary ovarian torsion,with all torsions in the neonatal period were secondary ovarian torsion.Among secondary ovarian torsion,there were 7 cases(33.3％)of ovarian teratoma with torsion,12 cases(57.1％)of simple ovarian cysts,1 case(4.7％)of ovarian serous cystadenoma,and 1 case(4.7％)of ovarian mucinous cyst.Torsion occurred in 9 cases(37.5％)of the left ovary and 15 cases(62.5％)of the right ovary,with right ovarian torsion being more common.Imaging signs included varying degrees of enlargement of the ovaries on the ipsilateral side of the torsion,with 14 cases(58.3％)of ovarian masses had a maximum diameter≥5 cm,and 3-5 cm being more common in the neonatal period.There were 11 cases(45.8％)with the pedicle sign/vortex sign on the ipsilateral side of the torsion,9 cases(37.5％)with mass and hemorrhage,4 cases(16.7％)with mass displacement to the midline or uterine displacement to the ipsilateral side,and 3 cases(12.5％)of the ovarian follicle outward migration showed fruit bowl sign.Conclusion Secondary ovarian torsion is relatively common in children,with distinctive imaging manifestations.Especially when neonatal ovarian cysts show hemorrhagic signals should be alert to the risk of ovarian torsion.CT and MRI examinations can provide a powerful reference for the clinical diagnosis of ovarian torsion in children.

Objective To summarize and analyze the CT or MRI imaging signs of ovarian torsion in children.Methods The CT or MRI data of 24 children surgically confirmed ovarian torsion were analyzed retrospectively,focusing on imaging signs such as ovarian position,size,the relationship with surrounding appendages and uterus.Results In this group of cases,8 cases underwent CT examination and 16 cases underwent MRI examination.Among the age of children,12 cases were in newborns,and 6 cases were in school-age and adolescent children respectively.It was more common in newborns and children aged 10-12 years old.Among the 24 patients,3 cases(12.5％)had primary ovarian torsion,all of which were adolescent children;21 cases(87.5％)had secondary ovarian torsion,with all torsions in the neonatal period were secondary ovarian torsion.Among secondary ovarian torsion,there were 7 cases(33.3％)of ovarian teratoma with torsion,12 cases(57.1％)of simple ovarian cysts,1 case(4.7％)of ovarian serous cystadenoma,and 1 case(4.7％)of ovarian mucinous cyst.Torsion occurred in 9 cases(37.5％)of the left ovary and 15 cases(62.5％)of the right ovary,with right ovarian torsion being more common.Imaging signs included varying degrees of enlargement of the ovaries on the ipsilateral side of the torsion,with 14 cases(58.3％)of ovarian masses had a maximum diameter≥5 cm,and 3-5 cm being more common in the neonatal period.There were 11 cases(45.8％)with the pedicle sign/vortex sign on the ipsilateral side of the torsion,9 cases(37.5％)with mass and hemorrhage,4 cases(16.7％)with mass displacement to the midline or uterine displacement to the ipsilateral side,and 3 cases(12.5％)of the ovarian follicle outward migration showed fruit bowl sign.Conclusion Secondary ovarian torsion is relatively common in children,with distinctive imaging manifestations.Especially when neonatal ovarian cysts show hemorrhagic signals should be alert to the risk of ovarian torsion.CT and MRI examinations can provide a powerful reference for the clinical diagnosis of ovarian torsion in children.

Cognitive impairment can be attributed to various causes.Its main manifestations include declines in learning, memory, understanding and executive function, and may be accompanied by varying degrees of psychiatric symptoms.Dementia is characterized by progressive deterioration in multiple cognitive domains that is severe enough to interfere with daily functioning.The pathogenesis of dementia is still unclear.In addition to the mainstream Aβ amyloid cascade hypothesis, recent research increasingly points to an association of microbial dysbiosis with many brain disorders.There is a direct or indirect link between gut bacteria and the central nervous system and consequently a new concept, the gut-brain axis, has been proposed.This paper will review recent advances in research on gut microbiota and cognitive function in the past five years, aiming to provide strategies for disease prevention and treatment.

Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children′s Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10^-3/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10^-3/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.

Objective To investigate the pathways by which hypoxia aggravates the neurotoxic effects of amyloid-beta protein (Aβ) on neurons.Methods Human neuroblastoma cells (SH-SY5Y cells) were cultured in vitro,and were divided into four groups:the control group,Aβ intervention group,hypoxia group,Aβ intervention plus hypoxia group.Quantitative real time polymerase chain reaction(qRT-PCR) was adopted to detect the mRNA expression levels of p21-activated kinase 1 (PAK1),LIM kinase 1 protein (LIMK1)and cofilin.Western blot was used to measure the protein levels of PAK1,LIMK1,phosphate-LIMK1 (P-LIMK1),cofilin and phosphate-cofilin (P-cofilin).Results After Aβ treatment,the activity of SH-SY5Y cells was decreased.Compared with the control group,the protein levels of PAK1,LIMK1,P-LIMK1,P-cofilin,and the mRNA expression levels of PAK1 and LIMK1 were decreased(all P＜0.05),but the protein and mRNA expression of cofilin had no significant changes after 24 h of treatment with 10μmol/L Aβ.Compared with the Aβ intervention group,the protein levels of PAK 1,LIMK1,P-LIMK 1 and P-cofilin were decreased (all P ＜ 0.05),and the mRNA expression levels of PAK1 and LIMK1 were decreased(both P＜0.05),but the protein and mRNA expression of cofilin had no significant changes after 24 h of treatment of SH-SY5Y cells with 10 μmol/L Aβ plus 2％ oxygen.Conclusions Aβ may reduce P-LIMK1 expression by inhibiting the activity of PAK1,thereby reducing the P-cofilin,increasing the formation of dephosphorylated cofilin,leading to neural cells damage,and hypoxia aggravates the neurotoxicity of Aβ through this pathway.

Objective: To investigate the spectrum of gene mutations in adult patients with B-acute lymphoblastic leukemia (B-ALL), and to analyze the influences of different gene mutations on prognosis. Methods: DNA samples from 113 adult B-ALL patients who administered from June 2009 to September 2015 were collected. Target-specific next generation sequencing (NGS) approach was used to analyze the mutations of 112 genes (focused on the specific mutational hotspots) and all putative mutations were compared against multiple databases to calculate the frequency spectrum. The impact of gene mutation on the patients’ overall survival (OS) and recurrence free survival (RFS) was analyzed by the putative mutations through Kaplan-Meier, and Cox regression methods. Results: Of the 113 patients, 103 (92.0%) harbored at least one mutation and 29 (25.6%) harbored more than 3 genes mutation. The five most frequently mutated genes in B-ALL are SF1, FAT1, MPL, PTPN11 and NRAS. Gene mutations are different between Ph⁺ B-ALL and Ph^- B-ALL patients. Ph^- B-ALL patients with JAK-STAT signal pathway related gene mutation, such as JAK1/JAK2 mutation showed a poor prognosis compared to the patients without mutation (OS: P=0.011, 0.001; RFS: P=0.014,<0.001). Patients with PTPN11 mutation showed better survival than those without mutation, but the difference was not statistically significant (P value > 0.05). Besides, in Ph⁺ B-ALL patients whose epigenetic modifications related signaling pathway genes were affected, they had a worse prognosis (OS: P=0.038; RFS: P=0.047). Conclusion Gene mutations are common in adult ALL patients, a variety of signaling pathways are involved. The frequency and spectrum are varied in different types of B-ALL. JAK family gene mutation usually indicates poor prognosis. The co-occurrence of somatic mutations in adult B-ALL patients indicate the genetic complex and instability of adult B-ALL patients.

Objective To investigate the effect of ten-eleven translocation protein on the proliferation of human neuroblastoma cell lines SH-SY5Y and IMR 32 and the expression of amyloid precursor protein,PS1,and β site APP cleaving enzyme 1 in the absence of folic acid and possible mechanisms involved.Methods SH-SY5Y and IMR-32 cells were cultured in vitro and divided into the folic acid deficiency group (0 mg/L),the low folic acid group (1mg/L),and the normal control group (4mg/L).The MTT method was used to observe cell proliferation,and RT-PCR was adopted to detect the mRNA expression of APP,PS1,BACE1,DNMTs and TETs in the cells in real-time.Besides,we generated a stable low-level TET1 expression cell line,and compared the expression with that in a negative control group.Furthermore,the expression of fluorescent protein was observed by fluorescence inverted microscope,cell proliferation was measured by the MTT assay,and mRNA levels of TET1,APP,PS1,and BACE1 were detected by RT-PCR.Results (1) In the folic acid deficiency group and the low folic acid group,cell proliferation of SH-SY5Y after 120 h and of IMR-32 cell after 144 h significantly decreased (P＜0.001).The mRNA levels of APP,PS1,BACE1,DNMT1,DNMT3a,DNMT3b,TET1,TET2,and TET3 in SH-SY5Y cells increased (F=80.315,35.386,101.979,786.407,80.331,131.545,28.000,9.165,and 102.167,all P＜0.05);the mRNA levels of APP,PS1,BACE1,DNMT1,DNMT3b,TET1,TET2,and TET3 in IMR-32 cells also rose (F=12.283,93.669,40.815,157.234,24.835,147.594,54.794,and 73.068,all P＜0.05).(2) Generation of a stable low-level TET1 expression cell line:The mRNA level of TET1 in the low expression group (SH-SY5Y-shTET1) was 0.25± 0.02,which was significantly lower than that in the negative control group (1.00±0.09) (P=0.007);the mRNA level of TET1 in the low expression group (IMR-32-shTET1) was 0.28 ±0.07,significantly lower than that in the negative control group (1.00±0.01) (P=0.003).(3)The proliferative ability of the low expression groups (SH-SY5Y-shTET1 and IMR-32-shTET1) was significantly higher than that in the negative control group (P＜0.01).The mRNA levels of APP and BACE1 decreased (P＜0.01 or P＜0.05)Conclusion In the human neuroblastoma cell lines SH-SY5Y and IMR-32,folic acid deficiency up-regulates the expression of TETs,increases the expression of APP and BACE1 in the cells by TET protein demethylation,and inhibits cell growth.

Objective: To investigate the feasibility of multiplex real-time RT-PCR with fluorescent probes in early screening of Ph-like acute lymphoblastic leukemia (ALL) and analyze the clinical feature and prognos. Method: A total of 118 adult B-ALL patients diagnosed between October 2010 and March 2016 were enrolled in this study. Multiplex RT-PCR was used to detect the Ph-like ALL related fusion gene and CRLF2 expression in 58 BCR-ABL and MLL rearrangement negative patients. The clinical features, treatment response and prognosis were analyzed in Ph-like fusion gene positive and/or CRLF2 over-expression patients. Result: Among 58 patients, 9 patients (9/58, 15.5%) showed Ph-like ALL related fusion genes positive and 10 patients (10/58, 17.2%) showed CRLF2 over-expression. There were statistical differences in age, WBC count, immunophenotypes, cytogenetics and risk stratification among Ph-like fusion gene positive or CRLF2 over-expression patients, Ph⁺ patients, MLL⁺ patients and B-other patients. The 2-year overall survival rates were 65%, 47%, 64% and 74% respectively among these four groups (P=0.043) . The 2-year relapse free survival rates were 51%, 39%, 62% and 70% respectively among these four groups (P=0.010) . Conclusion Routine screening of Ph-like ALL by multiplex RTPCR is feasible.

Objective To determine whether the antiserum produced by immunizing mice with conotoxin GI coupled with bovine serum albumin (BSA) could neutralize GI conotoxin.Methods The GI-BSA was prepared by glutaraldehyde-coupled method,and the mice were immunized with the GI-BSA to produce antiserum.The antibody neutralization assay was used to test the detoxication of the antiserum.Results The SDS-PAGE protein electrophoresis showed that the coupling reaction of GI hapten with BSA was successful.The two distinct protein bands of GI-BSA were more than 120×103.Each mouse was immunized four times with 99 μg every two weeks.After the fourth immunization,the serum neutralization titer was more than 1:64 000.After the intraperitoneal injection of the mixture of 100 or 200 μl of the antiserum and different doses of GI,75% of the mice survived in the group with 100 μl of the antiserum and 1× LD50 GI(16.3 μg/kg).The same percentage of mice also survived in the group of with 200 μl of serum and 25.8 μg/kg of GI.Conclusion The antiserum produced by immunizing mice with GI-BSA exhibits significant detoxication activity to conotoxin GI.

Objective To investigate expression and promoter methylation status of BRCA1 in sporadic breast cancer .Meth-ods The expression of BRCA1 mRNA and protein were detected in 60 cases of sporadic breast cancer ,the adjacent breast tissues , and 30 cases of breast benign lesion tissue by RT-PCR and and immunohistochemical staining respectively .The methylation status of BRCA1 promoter in those tissues were detected using bisulfite genomic sequencing PCR (BSP) combined with TA clone for se-quencing .The relation between BRCA1 expression in sporadic breast cancer and promoter methylation status was analyzed .Results The expression level of BRCA1 mRNA and protein were down-regulated in sporadic breast cancer tissues compared to the corre-sponding adjacent breast tissues and breast benign lesion tissue(P<0 .001) .The positive rates of BRCA1 protein was 51 .7% (31/60)in sporadic breast tissue ,which were significantly lower than those of in the adjacent breast tissues 71 .7% (43/60)and breast benign lesion tissue 66 .7% (20/30)(P< 0 .001) .The methylation rate of BRCA1 promoter CpG was 31 .7% (19/60)in sporadic breast ,while it wasn′t found in adjacent breast tissues and breast benign lesion tissue(P=0 .000) .The statistical analysis showed the expression of BRCA1 had significant negative correlation with promoter methylation(r= -0 .345 ,P=0 .007) .Conclusion The hypermethylation of BRCA1 promoter could induce BRCA1 down-regulating ,which may be involved in the occurrence and develop-ment of sporadic breast cancer .