Objective To analyse the genetic susceptibility of HLA DQA1 allele to anaphylactoid purpura with involved joints (APIJ),gastrointestestine (APIG) and kidney (APIK) in juvenile Han inhabited in Inner Mongolia.Method There were 45 children with APIJ,39 with APIG and 32 with APIK and 90 normal children controls,all of which were proved to be no sibship and no rheumatic diseases and family history.Of them,HLA DQA1 allelic types were analysed by polymerase chain reaction sequence specific primer (PCR SSP) technique.Results Gene frequencies of HLA DQA10301 in APIJ,APIG and APIK groups (28 5%,24 9% and 25%,respectively) were significantly higher than those of control group (10 6%),and the difference had statistical significance( ? 2=12 008,7 639 and 6 882; P =0 001,0 006 and 0 009;RR=3 83,3 09 and 3 11;EF=0 36,0 295 and 0 297,respectively).In contrast,HLA DQA10302 allelic frequencies in APIJ,APIG and APIK groups (5 7%?3 9% and 6 5%,respectively) were significantly lower than those in control grorp (19%) respectively,and the difference had statistical significance ( ? 2=8 352,10 633 and 5 557; P =0 004,0 002 and 0 018;RR=0 24?0 159 and 0 272;PF=1 09?1 80 and 0 92,respectively).Conclusion The allele of HLA DQA10301 may be a susceptible gene for the Han children with APIJ,APIG and APIK in Inner Mongolia,while HLA DQA10302 gene may be the protective one.

Diabetes insipidus ( DI) could lead to urinary tract dilatation, even renal dysfunction. This study compared clinical features of DI with or without urinary tract dilatation. The results showed that the former had earlier onset age, more male patients, longer duration, and higher serum creatinine, as well as lower urine osmotic pressure and urine specific gravity after injection of vasopressin. But only disease duration was the independent risk factor (OR=1. 248). More nephrogenic DI and more hereditary DI were with urinary tract dilatation compared with central DI or acquired DI.

Objective To investigate the influence of the pain management path on the postherpetic neuralgia patients. Methods Ninety patients with postherpetic neuralgia were divided into two groups by random digits table method:the control group and the experimental group, 45 cases in each group. The patients in the control group accepted conventional nursing care, the patients in the experimental group accepted the pain management path nursing care. The scores of pain and the overall satisfaction were assessed, the incidence of common adverse reactions at 5 and 10 days after the treatment, hospitalization expenses and hospitalization days were recorded. Results The gender, age, course of disease and degree of pain had no significant difference between the experimental group and the control group at admission (P>0.05). After 5 and 10 days treatment, the scores of pain in the experimental group were (3.07±1.34) , (1.09±0.90) points, and these were (4.29±1.74), (2.27±1.32) points in the control group, the differences were statistically significant (t=3.74, 4.94, all P<0.01). After 5 and 10 days treatment, the scores of the overall satisfaction in the experimental group were (5.50 ± 1.71), (7.96 ± 1.30) points, and these were (4.50 ± 1.60), (7.00 ± 1.50) points in the control group, the differences were statistically significant (t=-2.89,-3.37, all P<0.01). After 10 days treatment, the incidence of constipation was 26.67% (12/45) and 53.33% (24/45) in the experimental group and the control group respectively, the difference was statistically significant between the two groups (χ2=6.667, P<0.05). The hospitalization days were (13.71 ± 3.05) d and (15.76 ± 3.54) d in the experimental group and the control group respectively, the difference was statistically significant between the two groups (t=2.934, P<0.01). The hospitalization expenses were (11798.38 ± 3312.33) yuan and (13972.24 ± 3726.66) yuan respectively, there was significant difference between the two groups (t=2.925, P < 0.01). Conclusions The application of the pain management path for the pain management in patients with postherpetic neuralgia, can relieve the pain, reduce the incidence of adverse effects, hospitalization expenses and days, improve the overall satisfaction of the patients.

Objective To investigate the advantages of BLADE technique in MR T2WI/TSE abdomen scanning. Methods 36 cases, which had obvious motion defects with conventional T2WI/TSE axial abdomen scanning because of psychology or disease, performed T2WI/BLADE/TSE scan with the same regions. Then the image quality was compared, and amendment of motion defects was reviewed. The equipment was SIEMENCE 3.0T scanner and phased-array coil. Results Motion defects of all images with T2WI/BLADE/TSE were attenuated with different degree compared with T2WI/TSE. All images with T2WI/BLADE/TSE satisfied the diagnostic demand. Conclusion The BLADE technique in abdomen scanning solves the difficult problem of impossible MR scan with uneven breath and trembling patients because of psychology or disease, and obtains good diagnostic imaging.

Objective To investigate the early diagnosis value of MR by detecting spinal inflammatory lesions in ankylosing spon-dylitis (AS).Methods Forty patients were involved in this study,including 20 cases with short inflammatory back pain (IBP)histo-ry (duration ≤18 months)and 20 cases with long IBP history (duration ≥24 months).MR images were analyzed retrospectively. Results Patients with a short history of IBP had 7 lesions in vertebral bodies (anterior/posterior spondylitis and spondylodiscitis) and 33 lesions in posterior spinal structures (arthritis of costovertebral joints,costotransversal joints,zygapophyseal joints and en-thesitis of spinal ligaments).Patients with a long history of IBP had 27 lesions in vertebral bodies and 24 lesions in posterior spinal structures.Patients with a short history of IBP had significantly more lesions in posterior spinal structures than in vertebral bodies with 82.5% (33/40)vs 1 7.5% (7/40),respectively (P <0.01).In contrast,patients with a long history of IBP had significantly more inflammation in vertebral bodies with 79.4% (27/34)vs 20.6% (7/34),respectively (P <0.01).Conclusion Inflammatory spinal lesions in patients with a short history of IBP are seen more often in the posterior structures.Early detection of inflammatory spinal lesions by MRI is useful for early diagnosis of AS.

Objective:To construct a prognostic risk model for hepatocellular carcinoma(HCC),and elucidate the immune characteristics and immunotherapy response in patients with different prognostic stratification.Methods:RNA-seq data of TCGA-LIHC and ICGC(LIRI-JP),and gene microarray data of GSE14520 and GSE54236 in hepatocellular carcinoma,as well as clinical informa-tion of the corresponding samples were downloaded.First,screening of differentially expressed genes in tumor and non-tumor tissue samples from TCGA-LIHC,GSE14520 and GSE54236.For the common differential genes,univariate cox regression analysis was per-formed using TCGA-LIHC data to obtain HCC prognosis-related genes.Five genes were randomly selected as a panel,and the optimal prognostic marker panel was screened among 10 000 panels using Lasso-cox regression analysis combined with a five-fold cross-valida-tion method.TCGA-LIHC data were used as training set to construct the prognostic risk model,and ICGC data were used as validation set to test the model performance.Tumor immune dysfunction and exclusion(TIDE)algorithm and Immunophenotypic score(IPS)were used to predict immunotherapy efficacy in patients in different prognostic groups.Results:Overall survival was significantly lon-ger in low-risk group of HCC patients compared with high-risk group.Tumor proliferation rate,Treg and Th2 cell chemotaxis,stromal remodeling,and pro-tumor cytokines were significantly increased in high-risk patients,while NK cells,Th1 cells,effector cells and endothelial cells were significantly increased in low-risk patients.Immune checkpoint analysis showed that PDCD1,CTLA4 and CD276 were up-regulated in high-risk patients,while PDCD1LG2 was upregulated in low-risk patients.TIDE score and IPS results predicted that patients in low-risk group had better efficacy to immunotherapy.Conclusion:This study constructed a prognostic risk model containing three genes,DNASE1L3,RDH16 and DLGAP5,which can effectively predict the prognosis of HCC patients and assist in clinical decision making for individualized immunotherapy.

OBJECTIVETo analyze the genetic susceptibility of HLA-DQA1 allele to anaphylactoid purpura(AP)and its association with the clinical features in juvenile Hans residing in Inner Mongolia.

METHODSSeventy children with AP and ninety normal controls of Hans in Inner Mongolia were subjected to HLA-DQA1 genotyping with the use of polymerase chain reaction-sequence specific primer (PCR-SSP) technique.

RESULTS(1) The gene frequency of HLA-DQA1*0301 of AP group (33.4%) was significantly higher than that (10.6%) of control group (chi square=21.899, P<0.01). On the other hand, the gene frequencies of HLA-DQA1*0302 were 6.7% and 19% in the AP group and the control group respectively; a significant difference between them was seen (chi square=9.786, P<0.01); (2)The gene frequencies of both DQA1*0301 and DQA1*0302 in the cutaneous purpura simplex cases and the controls were not significantly different (P>0.05). The gene frequencies of DQA1*0301 of the cutaneous purpura cases associated with gastrointestinal, joint and renal impairment were 26.7%, 28.5% and 29.3% respectively, which were higher than that of the control group (10.6%); the differences were statistically significant (P<0.01, 0.01, 0.01; respectively). The gene frequencies of HLA-DQA1*0302(3.9%, 5.7% and 9.6%) for the cutaneous purpura cases associated with gastrointestinal, joint and renal impairment were significantly lower than that (19%) of the controls except renal impairment(P<0.01, 0.01, respectively).

CONCLUSIONThe allele of HLA-DQA1*0301 was probably a susceptible gene while HLA-DQA1*0302 was the protective one in AP of the children who were Han inhabitants in Inner Mongolia. The results of this study also revealed that patients with the allele of HLA-DQA1*0301 tended to involve gastrointestinal, joint and renal impairment.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; Female ; Gastrointestinal Diseases ; complications ; genetics ; Gene Frequency ; Genetic Predisposition to Disease ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; Humans ; Joint Diseases ; complications ; genetics ; Male ; Purpura, Schoenlein-Henoch ; complications ; genetics ; Renal Insufficiency ; complications ; genetics

OBJECTIVE: To analyze the Z values of true and false positive cases by non-invasive prenatal testing (NIPT) in order to improve its accuracy in clinical practice. METHODS: Results of 24 384 NIPT tests were reviewed. For cases with high risks for trisomies 21, 18 and 13, the range of Z values in true and false positive cases was analyzed and discussed. RESULTS: A total of 335 high-risk cases were identified by NIPT, among which 256 had elected prenatal diagnosis, 153 (59.77%) were verified as true positives, and 103 (40.23%) were false positives, and the area under the curve (AUC) was 0.9994. For NIPT screening, the positive predictive value (PPV) for trisomy 21 was 100% when Z>13, regardless if the pregnant woman was over 35. When 335 and about 41.6% (5/12) for those<35. For trisomy 18, the PPV was 100% when Z>13, and only 14.3% (1/7) when 3CONCLUSION NIPT is a technique similar to prenatal diagnosis and has a high positive predictive value for trisomies 18 and 21. Proper classification and division of the high-risk Z value of NIPT can further improve the positive predictive values for trisomies 21, 18 and 13 in different intervals, and is more helpful to guide clinicians in genetic counseling for high-risk pregnant women. Meanwhile, the compliance of prenatal diagnosis in high risk NIPT pregnant women with Z value between 3~13 was improved.
Female ; Pregnancy ; Humans ; Trisomy 13 Syndrome/genetics* ; Trisomy/genetics* ; Down Syndrome/genetics* ; Chromosome Disorders/genetics* ; Trisomy 18 Syndrome/diagnosis* ; Prenatal Diagnosis/methods*