Objective To evaluate the role of rheumatoid factor (RF), anti-cyclic citrullinated peptide antibody (ACCP) and anti-keratin antibody (AKA) in patients with rheumatoid arthritis (RA).Methods Serum levels of RF, ACCP and AKA were examined in 82 RA and 56 non-RA patients and their sensitivity and specificity for the diagnosis of RA were exmined. Statistical analysis was performed to test the association between ACCP/AKA and number of tender joints and swollen joints, ESR, CRP, disease activity score (DAS) or Ritchie's articular index (RAI). Results ROC curve was performed for each single auto-antibody and various combinations of any two of the above antibodies. The area under the ROC curve was over 0.5 (P<0.05). The specificity of ACCP and AKA was 91.1% and 92.9% respectively. RF, ACCP and AKA were all sensitive markers for the diagnosis of RA and the sensitivity could be as high as 95.1% when one of these markers was positive. There were statistical differences in the number of swollen joints, ESR and DAS between ACCP positive group and ACCP negative group (P<0.05) and statistical significant difference was observed in tender joint count, swollen joint count, ESR and DAS between AKA positive and negative groups (P<0.05). Conclusion Combined test of ACCP, RF and AKA is useful in routine RA diagnosis.ACCP and AKA may be clinical markers for predicting disease activity and prognosis.

Objective To investigate any neuroprotective effect of hyperbaric oxygenation (HBO) on the mitochondria of dopaminergic neurons using a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced mouse model of Parkinson's disease.Methods Forty-eight male SPF C57BL/6 mice were randomly assigned to either a normal control group (treated with a 30 ml/kg intraperitoneal injection of physiological saline once a day),a model group ( treated with a 30 mg/kg intraperitoneal injection of MPTP once a day) or an HBO therapy group ( treated with a 30 mg/kg intraperitoneal injection of MPTP and HBO once a day).The expression of tyrosine hydroxylase (TH) protein,PINK1 protein and caspase-3 in brain tissue was measured using immunohistochemistry and Western blotting assays.Results Compared with the control group,the expression levels of TH protein and PINK1 protein were significantly lower in the neurons of the substantia nigra in the model mice.HBO therapy upregulated the expression of TH and PINK1 protein.Compared with the control group,the average level of caspase-3 protein in the neurons of the substantia nigra in the model mice was significantly higher.HBO therapy downregulates the expression of caspase-3 protein.Conclusions HBO can protect mitochondria and inhibit apoptosis of dopaminergic neurons in the substantia nigra of brains with (MPTP-induced) Parkinson's disease by upregulating the expression of PINK1 protein and TH protein,and downregulating the expression of caspase-3 protein.

Objective To identify the clinical differences between central nervous system (CNS) infection and neuropsychiatric lupus in patients with systemic lupus erythematosus (SLE). Method Clinical manifestations, lab test results and prognosis of 12 SLE patients complicated with CNS infections, hospitalized in Nanjing Drum Tower Hospital in the past four years, were reviewed and compared with those of 15 concomi-tantly treated patients with central neuropsychiatric lupus (NPL). Two-indenpendent samples t test, Mann-whitney test and Fisher exact test were used for statistical analysis. Results 83% of SLE patients with CNS infections were female and the average disease onset age was (37±4) years. As compared to neuro-psychiatric lupus patients (the control group), those patients with CNS infections (infection group) had lower lupus disease activity (SLEDAI score 14.3±1.6 vs 6.4±1.2, P<0.01) and took higher dose of corticosteroids [average prednisone dose (28.3±2.5) vs (8.4±3.0) mg/d, P<0.01 ] and more immunosuppressives agents (83% vs 33%, P<0.05) before the occurrence of CNS symptoms. Headache and fever were more common in the infection group (100% vs 46.7% and 91.7% vs 20%, both P<0.01) and simultaneously higher serum albumin levels [(34.2±1.2) g/L vs (29.9±1.6) g/L] were detected in those patients compared to the NPL patients (P<0.05). Cerebrospinal fluid examination showed that agents for a long time but without strong evidence of lupus disease activity, CNS infection should be considered at the appearance of headache and fever, and timely cerebrospinal fluid examination is required for the diagnosis.

Objective To explore the relationship between the polymorphism of methionine synthase reductase(MTRR) A66G and the susceptibility to unexplained repeated spontaneous abortion (URSA).Methods Total of 200 Henan Han couples with URSA (URSA group) and 76 Henan Han healthy couples without URSA (control group)were enrolled in this study.Their MTRR A66G genotypes were determined by PCR restriction fragment length polymorphism (PCR-RFLP).Results (1) The allele frequencies of MTRR A66G:the frequencies of allele A and allele G in URSA group were 76.5％ (153/200)in husband and 72.8％ (146/200) in wife,23.5％ (47/200) in husband and 27.2％ (54/200) in wife,respectively.The frequencies of allele A and allele G in control group were 78.9％ (60/76) in husband and 78.3％ (59/76) in wife,21.1％ (16/76) in husband and 21.7％ (16/76) in wife,respectively.The frequencies of allele A and allele G were not significantly different between female and male subjects within the same experimental group (P ＞ 0.05),and also there were not significantly different between the same gender subjects at URAS and control groups(P ＞ 0.05).(2) The genotype frequencies of MTRR A66G:the frequencies of genotype AA,AG and GG in URSA group were 57.0％ (114/200) in husband and 52.0％ (104/200) in wife,39.0％ (78/200) in husband and 41.5％ (83/200) in wife,4.0％ (8/200) in husband and 6.5％ (13/200) in wife,prepectively.The frequencies of genotype AA,AG and GG in control group were 59.2％ (45/76) in husband and 59.2％ (50/76) in wife,39.5％ (30/76) in husband and 38.2％ (29/76) in wife;1.3 ％ (1/76) in husband and 2.6％ (2/76) in wife,prepectively.The frequencies of genotype AA,AG and GG were not significantly different between female and male subjects within the same group (P ＞ 0.05),and also there were not significantly different between the same gender subjects at URSA and control groups (P ＞0.05).(3) Combined genotype of couples:the combined genotype frequencies of GG + GG,GG + AG,GG +AA,AG + AG,AG + AA and AA + AA in URSA group were 1.0％ (2/200),2.5％ (5/200),6.0％ (12/200),20.0％ (40/200),38.0％ (76/200),and 32.5 ％ (65/200),prepectively ; the combined genotype frequencies in control group were 0,1.3％ (1/76),2.6％ (2/76),17.1％ (13/76),42.1％ (32/76),36.8％ (28/76),prepectively.The combined genotype analysis between the two groups were also not significantly different (P ＞ 0.05).Conclusion The polymorphism of MTRR A66G gene was not associated with the susceptibility to URSA (P ＞ 0.05),and so it was not the inherited genetic risk factor of URSA.

Objective:To report a Chinese family with a novel ABCD1 gene mutation at c.332T>G (p.V111G) site and discuss its clinical characteristics and molecular mechanism.Methods:The clinical data, laboratory examination, and imaging examination results were analyzed to make the clinical diagnosis of a middle-aged onset patient from the First Affiliated Hospital of Zhengzhou University in May 2017. High-throughput sequencing was used to discover a novel ABCD1 gene mutation. Sanger sequencing was used to find out whether other family members contain the same ABCD1 gene mutation. The pathogenicity of this mutation was explored by protein structure prediction and pathogenicity analysis. Adrenoleukodystrophy protein-green fluorescent protein (ALDP-GFP) and ALDP-GFP (V111G) plasmids were constructed and human embryonic kidney 293 cells were transfected, then immunofluorescence and Western blotting were used to explore the molecular mechanism of this mutation (completed in Henan Provincial People′s Hospital).Results:The proband (a 39-year-old male) was diagnosed as adrenomyeloneuropathy, a subset of X-linked adrenoleukodystrophy, with a novel heterozygous missense mutation in the ABCD1 gene at c.332T>G (p.V111G) site, and his mother and two daughters were all carriers. Protein structure prediction and pathogenicity results suggested that this mutation is pathogenic. Overexpression of ALDP-GFP (V111G) in the human embryonic kidney 293 cells resulted in a significant decrease in the expression levels of ALDP and the abnormal localization from the peroxisomal membrane to the cytoplasm, accompanied by significant down-regulation of LC3-Ⅱ/LC3-Ⅰ and beclin-1.Conclusion:c.332T>G (p.V111G) is a novel pathogenic mutation in the ABCD1 gene, which causes adrenomyeloneuropathy by impairing autophagy.

OBJECTIVETo assess the association of polymorphisms of human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).

METHODSThe HLA-DRB1 gene was typed with polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples with URSA and 200 couples with a normal pregnancy history.

RESULTSThe frequencies of DRB1*09 and DRB1*13 alleles were significantly greater in the URSA group compared with the control group (14.50% vs. 9.50%, and 7.00% vs. 4.38%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (7.13% vs. 10.75%, and 8.63% vs. 14.38%, both P<0.05). For females from the URSA group, the frequency of DRB1*09 allele (14.00%) was significantly higher compared with the controls (9.25%) (P=0.036), whilst the frequency of DRB1*12(8.50%) allele was significantly lower (14.00%) (P=0.014). For males in the URSA group, the frequencies of DRB1*09 and DRB1*13 alleles were significantly higher than those of the controls (15.00% vs. 9.75%, and 9.25% vs. 4.00%, both P<0.05), whilst the frequencies of DRB1*04 and DRB1*12 alleles were significantly lower (5.75% vs. 12.25%, and 8.75% vs. 14.75%, P<0.05).

CONCLUSIONThe DRB1*09 and DRB1*13 alleles may contribute to the susceptibility of URSA, while DRB1*04 and DRB1*12 alleles may confer a protective effect factors. For females, however, no significant association of DRB1*13 and DRB1*04 alleles with URSA was found.

Abortion, Spontaneous ; ethnology ; genetics ; Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; HLA-DRB1 Chains ; genetics ; Humans ; Male ; Polymorphism, Single Nucleotide ; Pregnancy ; Young Adult

Objective To evaluate the application values of diffusion tensor tractography (DTT) combined with neuronavigation in microsurgery of insular gliomas. Methods The clinical data of 27 patients with insular gliomas, admitted to our hospital from March 2013 to October 2017, were analyzed retrospectively. All DTT images were transferred to the neuronavigation system, and the three-dimensional location of tumors and pyramidal tracts were re-constructed. Surgical approaches were designed and excision scopes were defined before the surgery. Techniques on how to distinguish and protect the key blood vessels and pyramidal tracts were discussed. The treatment efficacies were analyzed. Results Total lesion resection was achieved in 22 patients (81.5％), subtotal resection in 4 (14.8％ ), and partial resection in one (3.7％ ). Postoperative pathology indicated 7 were oligodendrogliomas, and 20 were astrocytomas, including WHO grade I in one, grade II in 18, and grade III in one. One patient had transient aphasia (recovery after two weeks), 2 experienced worsened hemiplegia on opposite side of their bodies (normal after one month), and the left 24 patients remained intact function after operation. Conclusions The combination of DTT and neuronavigation is safe and effective in surgical treatment for insular gliomas, which can protect the brain function at greatest degree and maximize lesion resection, and improve the postoperative quality of life.

OBJECTIVETo conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.

METHODSPotential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.

RESULTSMLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.

CONCLUSIONThe causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.

Child, Preschool ; Dystrophin ; genetics ; Exons ; Gene Deletion ; Gene Duplication ; Humans ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Mutation

OBJECTIVETo explore the value of HLA-DRB1 gene in predicting the outcome of unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) in Henan Hans.

METHODSThree hundred URSA patients were recruited. Following PLAT treatment, they were divided into two groups according to the outcome of pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) were conducted to analyze the HLA-DRB1 gene.

RESULTSFor those who have received PLAT treatment, the frequency of HLA-DRB1*11 was significantly lower in successfully treated cases than those with abortion (0.052 vs. 0.110, P < 0.05, OR=0448), whilst the frequency of HLA-DRB1*15 was significantly greater in the former (0.207 vs. 0.100, P < 0.05, OR=2.352).

CONCLUSIONFor patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.

Abortion, Spontaneous ; ethnology ; genetics ; immunology ; therapy ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; Female ; Genetic Predisposition to Disease ; ethnology ; HLA-DRB1 Chains ; genetics ; Humans ; Immunotherapy ; Isoantigens ; immunology ; Lymphocytes ; immunology ; Male ; Pregnancy ; Treatment Outcome

OBJECTIVETo conduct genetic diagnosis for a family affected with hamophilia A.

METHODSPotential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on the above results.

RESULTSSequencing analysis has identified two mutations, c.1 A>T and c.4 C>T, which have replaced the start codon (ATG) with leucine (TTG) and glutamine (GAA) with the stop codon (TAA), respectively. The same mutations were not found among the 100 healthy controls. The patient's mother and sister were heterozygous for the same mutations. Upon prenatal diagnosis, the fetus was determined as a male and did not harbor the above mutations. Linkage analysis also confirmed that the fetus has inherited the non-risk X chromosome from his maternal grandfather.

CONCLUSIONDetection of pathogenic mutations can enable prenatal diagnosis for the disease.

Adult ; Factor VIII ; genetics ; Female ; Genetic Linkage ; genetics ; Hemophilia A ; genetics ; Humans ; Male ; Mutation ; genetics ; Prenatal Diagnosis ; methods ; Young Adult