Objective To study the T cells lineage polymorphism of TCR BV CDR3 in the peripheral blood of ankylosing spondylitis (AS) patients,in order to provide experimental basis for the immunological patho-genesis study of AS.Methods Twenty-six subfamilies of CDR3 T cells of TCR BV in the PBMC of AS patients were amplified by RT-PCR method,then TCR BV CDR3 lineages polymorphism were analyzed by immunization scanning spectrum.Results TCR BV CDR3 scanning spectrum of 20 active AS patients showed abnormal distribution peak,including monoclonal,oligoclonal/oligoclonal trend,skewing peak and irregular abnormal peak.Among them,some subfamilies of 18 patients showed oligoclonal/oligoclonal trend expansion,BV16 and BV18 two subfamilies of one case showed monoclonal expansion.Most spectral type of PBMC TCR BV CDR3 in five normal controls showed Gauss distribution.Conclusion TCR BV CDR3 lineage have significant characteristic polymorphism and spectrum drift characteristics in the peripheral blood of AS patients,which further indicate that T cells has plaied an important role in the immunological pathogenesis of AS.Monoclonal/oligoclonal expansion of T cells may be autoreactive T cells in nature and they may be involved in the pathogenesis of AS.

Objective To investigate radio-sensitivity and expression of GRP78 protein in the survival subclones of nasopharyngeal carcinoma (NPC) C666-1 cells.Methods NPC C666-1 cells were first irradiated with X-ray at a large dose of 8Gy.Three survival subclones were selected and named as C666-1-R1, C666-1-R2, and C666-1-R3.The radio-sensitivity was analyzed for the radiated survival subclones and their parent control C666-1 cells with Methyl Thiazolyl Tetrazolium assay(MTT) and Trypan blue dye methods.The expression of GRP78 was analyzed for three survival subclones and control C666-1 with Western blot.Results After 6 Gy irradiation, the cell survival rate of three subclones was higher than that of the control cells, especially a significant difference for C666-1-R2 cells (P ＜ 0.05), which suggested a radioresistance in C666-1-R2 cells.Moreover, GRP78 expression in each subclone was significantly higher than that of parent C666-1 cells (P ＜ 0.05).Conclusions The irradiated-survival subclone C666-1-R2 was radio-resistant.GRP78 was overexpressed in the irradiated-survival subclones.GRP78 might be an ideal target for treatment of a nasopharyngeal carcinoma.

OBJECTIVE: To investigate the correlation between single-nucleotide polymorphism (SNP) of ARID5B gene and resistance to methotrexate (MTX) in children with acute lymphoblastic leukemia (ALL). METHODS: A total of 144 children with ALL who were treated in General Hospital of Ningxia Medical University from January 2015 to November 2021 were enrolled and divided into MTX resistant group and non-MTX resistant group, with 72 cases in each group. Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) technology was used to measure the SNP of ARID5B gene in all children and analyze its correlation with MTX resistant. RESULTS: There were no significant differences in the genotype and gene frequency of rs7923074, rs10821936, rs6479778, and rs2893881 between MTX resistant group and non-MTX resistant group (P>0.05). The frequency of C/C genotype in the MTX resistant group was significantly higher than that in the non-MTX resistant group, while the frequency of T/T genotype was opposite (P<0.05). The frequency of C allele in the MTX resistant group was significantly higher than that in the non-MTX resistant group, while the frequency of T allele was opposite (P<0.05). Multivariate logistic regression analysis showed that ARID5B gene rs4948488 TT genotype and T allele frequency were risk factors for MTX resistant in ALL children (P<0.05). CONCLUSION The SNP of ARID5B gene is associated with MTX resistant in ALL children.
Child ; Humans ; DNA-Binding Proteins/genetics* ; Gene Frequency ; Genotype ; Methotrexate ; Polymorphism, Single Nucleotide ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Transcription Factors/genetics* ; Drug Resistance, Neoplasm

BACKGROUND: Apolipoprotein E (ApoE) gene polymorphism is associated with the onset of Alzheimer disease (AD), most of the researchers reported that ApoE ε4 allele accounts for familial AD as well as for sporadic AD.OBJECTIVE: This study was designed to validate the relationship between ApoE gene polymorphism and the sporadic AD in Aged Adults in Urumqi, and to evaluate the value of ApoE gene for prediction the risk of sporadic AD.DESIGN: Controlled comparative study based on patients.SETTING: It was conducted at the Institute of Clinical Medicine and the Neurological Department of Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA.PARTICIPANTS: From January 2001 to January 2003, 60 aged inpatients and outpatients at the Neurological Department of Urumqi General Hospital of Lanzhou Military Area Command of Chinese PLA and elderly in the Old People's Home were screened for AD. Of all these participants,28 were males and 32 were females, with an age from 52 to 91, in average of (74.2±19.5) years old, They had 0-16 years education, in average of 4.43 years, 28 were illiterate, 13 were at primary school educational level,12 were at junior middle school educational level, 4 were at high school educational level and 3 were at college educational level. From February to December 2002, 90 genetically unrelated individuals with healthy physical examination findings in Xinjiang area were selected into control group, 59males and 31 females, with an age from 50 to 101 years old, in average of (69.9±25.5) years old, have 0-16 year's education, in average of 7.96years. Of all the controls, 14 were illiterate, 23 were at primary educational level, 25 were at junior middle school educational level, 21 were at high school educational level and 7 were at college educational level. Informed consents were obtained from all the participants.METHODS: 5 Ml blood samples, anticoagulated with ethylene diamine tetraacetic acid (EDTA), were drawn from each participant. Then genome DNA was extracted from peripheral white blood cells using the phenolchloroform method. A fragment containing polymorphism site in exon 4 of ApoE were amplified using the polymerase chain reaction (PCR), were digested with Hha I and were identified using electrophoresis and silver staining. Then, ApoE genotypes and the frequency of ApoE alleles were compared between AD group and control group.MAIN OUTCOME MEASURES: ① ApoE genotypes and the frequency of ApoE alleles were measured in AD group and control group. ② The frequency of ApoE alleles were calculated in participants with different sex,age and educational level in AD group and control group.RESULTS: Sixty patients with AD and 90 healthy individuals participated this investigation. All of them entered the statistical analysis procedure.① The frequency of ε3/ε4 and ε4/ε4 alleles was higher in AD group than in control group (26.67%,11.11%; 3.33%, 1.11%; P ＜ 0.05). The frequency of e2/ε3 in AD group were lower than control group (5.00%,14.00%, P ＜0.05). ② The frequency of ApoE ε4 allele were higher in AD group as compared with control group (17.50%, 7.22%, P ＜ 0.05). The frequency of ApoE ε2 allele were lower in AD group (6.67%, 13.33%, P ＜ 0.05). ③ The frequency of ApoE ε4 allele in females were higher in AD group than in control group (20.97%, 5.00%, P ＜ 0.01). ④ In AD group, patients ≥ 75 years old have a lower frequency of ApoE ε4 allele compared to those less than 75 years (8.57%, 30.00%, P ＜ 0.01). And in individuals less than 75 years old, the frequency of ApoE ε4 allele were higher in AD group than that in control group (30.00%, 7.02%, P ＜ 0.01). ⑤ In illiterate persons and the individuals with only primary school educational level, the frequency of ApoE ε4 allele were higher in AD group than that in control group (10.00%, 0.56%, P ＜ 0.001; 5.00%,1.12%, P ＜ 0.01).CONCLUSION: ① It is proved that ApoE ε4 allele is significantly associated with sporadicAD in Urumqi and ε3/ε4 is the major genotype. ② ApoE ε2 allele has a protective effect on onset of AD. ③ Those individuals，female,less than 75,lower educational level or carrying ApoE ε4 allele take a higher risk of AD.

Objective To investigate the effect of low dose low molecular weight heparin (LMWH) on acute pancreatitis (AP). Methods 98 AP patients who were admitted in our hospital from 2002 to 2008 were randomly divided into anticoagulant therapy group (n = 40) and control group (n = 58). Anticoagulant therapy group consisted of 15 cases of severe acute pancreatitis (SAP) and 25 cases of mild acute pancreatitis (MAP) ; while there were 19 cases of SAP and 39 cases of MAP in control group. The patients of control group received conventional treatment, and conventional therapy together with 3 000 U LMWH subcutaneous injection every 12 hours were used in anticoagulant therapy group for two weeks. The changes of APACHE II score, complication rate, mortality and length of hospital stay were observed and the coagulation changes before and after anticoagulant therapy were documented. Results 7 days later, the APACHE II score, complication rate, mortality and length of hospital stay of SAP patients in the anticoagulant therapy group were 9. 9 ±4. 9, 20% , 13.3% , (20.6 ±10.4)d, respectively; while they were 12. 2 ±4.8, 42. 1%, 47.4%, (28. 2 ± 12. 5) d, respectively, in the control group, and the difference was statistically significant (P < 0. 05). The corresponding values were not statistically significantly different among MAP patients in the two groups. The coagulation after treatment in anticoagulant therapy group was not statistically different with that before treatment. Conclusions Low dose LMWH could reduce the rate of complication rate, mortality and decrease the length of hospital stay, without complication of hemorrhage, which should be recommended in the early phase of SAP.

Objective To evaluate the diagnosis and emergency surgical treatment of ruptured intracerebral aneurysms (RIAs) accompanied with intracerebral hematomas (ICH).Methods A retrospective study was performed on the clinical data of 23 patients ofICH following RIAs,admitted to our hospital from May 2009 to September 2013.CTA was performed in 17 patients and cranial CT in 6 before the operation.The emergent operations were performed in all the patients within 24 hours of aneurysm rupture; pterion approach was adopted to clip the arterial aneurysm and clear intracerebral hematoma.Results According to Glasgow outcome scale (GOS) scores,4 recovered well,6 were mildly disabled,8 were severely disabled and 5 died.After follow-up for 3.3 years in 15 patients,no further bleeding occurred.Eight aneurysms were re-checked by CTA,7 aneurysms were completely clipped and 1 aneurysm had residual neck.Conclusions Preoperative CTA is essential for the correct diagnosis of ICHs due to RIA.The curative effect of the emergent operation can improve the survival rate and prognosis of patients with RIA accompanied with ICH.

Objective To study the mutation characteristics in phenylalanine hydroxylase gene of Xinjiang minority nationality phenylketonuria (PKU) patients and provide a scientific basis for PKU prevention and cure strategy.Methods Mutations in phenylalanine hydroxylase gene were detected by Dolymerase chain reaction-single strand comformation polymorphism (PCR/SSCP) and gene sequencing in 12 minoritv nationality patients.Results Thirteen different mutations,including 8 missense mutations,1 nonsense mutation and 3 splice mutations were found in 24 alleles.The moat common mutations were EX696A＞G and P281 L.which were respectively prevalent in Asia and Europe populations.The common mutations were R243Q,R111X,R176X and F161S.The mutation frequency of R243Q was the highest and R111X was the third highest in Northern China.R176X and F161S were two rare mutations world wide.Especially.F161S was a Chinese-specific mutation because it was for the second time that it was found in China.The mutations detected in this study were first reported in these 3 minority nationality populations,which showed a distinct ethical characteristic.Condusions There is not only a consanguineous relation but also a distinct difference in PAH gene distribution between Xinjiang minority nationality population and yellow race and Latin-American.The results suggest that Xinjiang could probably be a special PAH gene distribution region.

OBJECTIVETo investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.

METHODSFor 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing.

RESULTSA total of 98 mutations were detected in 110 PAH alleles, with the detection rate being 89.10%. Nine mutations have been identified in exon 7, which accounted for 33.67% of all. Exon 12 (14.29%) and exon 3 (12.24%) have followed. Thirty eight mutations, locating in exon2-exon12 and the flanking sequence, were detected in the 55 PKU patients. p.R243Q (24.49%) was the commonest mutation, whilstp.A47E, p.I65S and p.A259T were first discovered in China. After querying international databases including PAHdb and HGMD, the p.C334X was verified as the novel PAH gene mutation.

CONCLUSIONThe mutation spectrum of the PAH gene in Shaanxi has been identified. And a novel mutation has been identified. This may facilitate the diagnosis of PKU in the future.

Alleles ; Base Sequence ; Child ; Child, Preschool ; China ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenylalanine Hydroxylase ; blood ; genetics ; Phenylketonurias ; enzymology ; genetics

Objective To investigate the incidence and the types of gene mutations of α-thalassemia in the child-bearing pop-ulation of Conghua District,Guangzhou.Methods Blood samples from 24 083 people of childbearing age were screened by blood cell analysis and hemoglobin electrophoresis,α-globin gene variation was detected by GAP-PCR and PCR reverse dot blot in the positive cases,and 17 common β-globin gene mutations were detected by PCR reverse Dot blot.Results A total of 2 596 cases of α-thalassemia gene abnormality were detected by gene identification,and the abnormal rate was 10.78%.A sum of 170 cases(0.71%)had a compound mutation of α-β gene.There were 2 550 cases(98.23%)of deletion and 46 cases(1.77%)of non-deletion in the mutant genes.There were 14 types of gene mutation,including 5 types of HbH disease(with--SEA/-α3.7 primarily),4 mild types(with 68.61%of--SEA/αα genotype),and 5 quiescent types(the top two genotypes were-α3.7/αα and-α4.2/αα).A total of 23 types of αβ complex gene mutation were detected,and the top six types were--SEA/βCD41-42,-α3.7/βCD41-42,--SEA/β654,--SEA/-28,-α3.7/β654 and-α3.7/βCD17,which accounted for 75.27%of all the complex types.Conclusion The gene abnormality rate of α-thalassemia in Conghua District of Guangzhou City was high.The gene mutation type and constitu-ent ratio,which have their own characteristics,is a special region of α-thalassemia.

Objective:For tympanosclerosis patients with ossicular chain fixation, we use ossicular chain bypass technique and evaluate its long-term effects. Methods:From June 2017 to June 2019, 147 patients with tympanosclerosis who underwent middle ear surgery with otoscopy in Yinchuan First People's Hospital were reviewed. The subjects were divided into three groups according to the implemented operation plan, 51 cases in the ossicular chain mobilization group（OCM）, 56 cases in the ossicular chain bypass reconstruction group（OCB）, and 40 cases in the malleus-incus complex resection reconstruction group（MICR）. Through a three-year follow-up, the medium and long-term effects of different operation plans were compared and analyzed. Results:There was no significant difference among the three groups in the incidence of tympanic membrane perforation, delayed facial nerve palsy, and the dispatch and displacement of PORP. The incidence of tympanic membrane retraction pocket or cholesteatoma after operation in OCB group（0） was significantly lower than that in OCM group（11.76%） and MICR group（7.5%）（P<0.05）. At 12 months after operation, ΔABG of OCB group and MICR group were better than that in the OCM group（P<0.05）. At 36 months after operation, ΔABG of OCB group was better than that in the OCM group（P<0.05）, and there was no significant difference between OCB group and MICR group. The audiological performance of patients with epitympanic sclerosis（ETS） at 12, 24 and 36 months after operation was better than that of patients with posterior tympanosclerosis（PTS） and total tympanosclerosis（TTS）（P<0.05）. Conclusion:Compared with patients undergoing ossicular chain mobilization and malleus-incus complex resection for ossicular chain reconstruction, patients with tympanosclerosis undergoing bypass technique have better and stable hearing prognosis in medium and long term. This technique can effectively prevent the formation of retracted pocket and cholesteatoma in patients with tympanosclerosis after operation.
Humans ; Tympanosclerosis ; Ear Ossicles/surgery* ; Ear, Middle ; Malleus/surgery* ; Cholesteatoma ; Retrospective Studies ; Ossicular Prosthesis ; Treatment Outcome