OBJECTIVEKawasaki disease (KD) is an acute febrile vasculitic syndrome of unknown etiology that preferentially affects coronary artery. It has been suggested that proinflammatory cytokines like tumor necrosis factor alpha (TNF-alpha) and interleukin-10 (IL-10) are key players during acute KD. Recently, the polymorphisms relative to major transcriptional start site of TNF-alpha and IL-10 gene were shown to influence the level of TNF-alpha and IL-10 production in vitro. This study was aimed to investigate the genetic association of TNF-alpha and IL-10 promoter polymorphisms in juvenile patients of Han nationality with KD, and to investigate the possible associations with clinical manifestations of the disease.

METHODSFour polymorphism sites of TNF-alpha and IL-10 gene promoter regions from 96 children with KD were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). One hundred and sixty age-matched normal children of the Han nationality were used as control. All patients accepted Doppler echocardiography examination in order to differentiate coronary artery lesions.

RESULTSThere was significant difference in allele frequencies of -308 (A/G) site of the TNF-alpha gene between children of the Han nationality and those of Japanese and Caucasian in America. There were significant differences in the allele frequencies of -1082 (G/A), -819 (C/T) and -592 (A/C) of IL-10 gene between children of the Han nationality and their British Counterparts (P < 0.01). There was no significant difference in allele frequencies of -308 (A/G) site of TNF-alpha gene between children with KD and normal controls. There was no significant difference in the haplotypes and the allele frequencies of the above three sites of IL-10 between the two groups. However, when clinical features were examined, the genotype frequency of TNF-alpha-308A was significantly higher in IVIG-resistant KD patients than that of TNF-alpha-308G genotype (67% vs 5%, chi(c)(2) = 90.48, P < 0.01). The genotype of TNF-alpha-308A was closely associated with IVIG-resistant KD (P < 0.01, relative risk 42.25, 95% confidence interval 15.81-112.88). The haplotype frequency of IL-10 -1082A/-819T/-592A was also higher in patients with coronary artery lesion (CAL) caused by KD than those of Non-ATA haplotype (52% vs 20%, chi(2) = 18.36, P < 0.01). The haplotypes of IL-10 -1082A/-819T/-592A was significantly associated with CAL caused by KD (P < 0.01, relative risk 4.26, 95% confidence interval 2.20-8.25).

CONCLUSIONThe genotype of TNF-alpha-308A is one of the important factors that probably influence the therapeutic effect of KD. The haplotypes (-1082/-819/-592) of IL-10 gene promoter might be related to the pathogenesis of coronary artery complication of KD and -1082A/-819T/-592A haplotypes might be regarded as a genetic marker of risk factor for coronary artery lesion in KD.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Interleukin-10 ; genetics ; Male ; Mucocutaneous Lymph Node Syndrome ; genetics ; pathology ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic ; genetics ; Tumor Necrosis Factor-alpha ; genetics

OBJECTIVETo compare the sensitivity and practicability of modified Bethesda assay and Nijmegen assay in detecting factor VIII (FVIII) inhibitor.

METHODSModified Bethesda assay and Nijmegen assay were used to screen FVIII inhibitors in 237 patients with hemophilia A. The buffer plus universal coagulation reference plasma (UCRP) was used to establish a standard curve for FVIII: C assay in modified Bethesda method, instead of Nijmegen plasma plus FVIII deficiency plasma in Nijmegen method. The cutoff value for positive FVIII inhibitors is > or = 0.6 BU/ml.

RESULTSThe positive rate of FVIII inhibitors was 5.5% (n = 13) when using modified Bethesda assay and was 8.4% (n = 20) when using Nijmegen assay (P > 0.05).

CONCLUSIONModified standard Bethesda assay is a convenient and feasible method for detecting FVIII inhibitors.

Adolescent ; Adult ; Autoantibodies ; blood ; Blood Coagulation Tests ; methods ; Child ; Child, Preschool ; Factor VIII ; immunology ; Female ; Hemophilia A ; blood ; immunology ; Humans ; Male ; Middle Aged ; Sensitivity and Specificity ; Young Adult

Objective To observe the protective effects of a mixture for protecting liver and supplementing stomach (保肝益胃合剂) on rat acute liver damage induced by carbon tetrachloride (CCl_4). Methods The model of rat acute liver damage was established by injection of CCl_4 2 ml/kg into the abdominal cavity.The rat models were treated respectively by the mixture for protecting liver and supplementing stomach 30 g?kg~(-1)?d~(-1),the polyene phosphatide acid radical choline capsule [Yi Shanfu (易善复), 180 mg?kg~(-1)?d~(-1)],the glycyrrhizic acid diaminogen capsule [Gan Lixin (甘利欣),30 mg?kg~(-1)?d~(-1)] infused into the stomach.The activities of serum alanine transaminase (ALT) and aspartate transaminase (AST) were detected.In the mean time,the liver pathological changes were observed,the degree of liver cell necrosis was evaluated,and the rat mortality was noted in various groups of treatment.Results The values of ALT,AST and the score of liver cell necrosis in the group treated with the mixture for protecting liver and supplementing stomach [(1.168?1.066) kU/L,(1.845?2.212) kU/L,(0.56?0.53) score] were significantly lower than those in the model group [(4.982?3.502) kU/L,(7.030?3.616) kU/L, (1.38?0.92) scores],and all the differences being statistically significant (all P

OBJECTIVETo analyze the clinical characteristics and effects of rehabilitation treatment on hemophiliacs with iliopsoas hemorrage.

METHODSThe hemophilia patients with iliopsoas bleeding treated in Peking Union Medical College Hospital between January 2006 to December 2010 were enrolled. The clinical characteristics including symptoms, signs, complications, and rehabilitation treatment were analyzed retrospectively.

RESULTSAll of the forty-one hemophiliacs with iliopsoas bleeding were male, 20 cases wee the left bleeding, 18 the right, and 3 the bilateral. The median median age was 18 (6 - 61) years old(y). The median age of the iliopsoas bleeding for the first time was 17 (6 - 20) y. 34 patients accompanied with femoral nerve injury, 19 of them had secondary knee bleeding on the same side. 20 patents had quadriceps atrophy. Pelvic pseudotumor developed in 2 patients and permanent abnormal posture in 2 patients. The main finding of the ultrasound image was low-echo mass in iliopsoas muscles or inguinal region. 34 patients received rehabilitation therapy for 8 - 12 weeks under the support of factor replacement, complete hematomas absorption in 33 of them, with hip range of motion recovering back to baseline. 27 of 32 (84.4%) cases with femoral nerve injury got quadriceps strength above 4/5 grade, 20 cases of femoral nerve injury (62.5%) still had numbness on front of their thigh after treatment.

CONCLUSIONSIn this cohort of iliopsoas bleeding, most of the patients are adolescent. High prevalence of the femoral nerve injury and the secondary knee bleeding are found. Rehabilitation treatment under the support of factor replacement is safe and effective on hematoma absorption and neurological function recovery.

Adolescent ; Adult ; Child ; Hematoma ; etiology ; rehabilitation ; Hemophilia A ; complications ; rehabilitation ; Hemorrhage ; etiology ; rehabilitation ; Humans ; Male ; Middle Aged ; Muscular Diseases ; diagnosis ; etiology ; rehabilitation ; Psoas Muscles ; physiopathology ; Retrospective Studies ; Young Adult

Objective:To investigate the subtype distribution of HIV-1 strains prevalent in four areas of China,and to study the characteristics of gag gene variation and changes in antigen epitopes under the host immune pressures. Methods:The plasma of HIV-1 infected people from Henan, Guangdong, Sichuan and Beijing in China were collected. Virion RNA was extracted directly from plasma after the virion was condensed. The gag gene was amplified by RT-PCR and nested-PCR.Sequences were subtyped by Genotyping Tool software, and phylogenetic analysis of gag gene were performed using the MEGA 4.1 software.The gene distances intra each subtype were calculated by Distance program. The Ks/Ka ratios were calculated using SNAP program. The variation analysis of CTL antigen epitopes restricted by main HLA-Ⅰ specificities in China was performed.Results:Six subtypes or circulating recombinant forms(CRFs)of HIV-1,including B',CRF07_BC,CRF01_AE,B,CRF08_BC and CRF02_AG,were identified in four areas of China.The gene distances intra each subtype were CRF01_AE>B>CRF08_BC> CRF07_BC>B' listed in order of size, meanwhile the order of Ks/Ka ratios was CRF01_AE>B>CRF08_BC>B'>CRF07_BC. Far more diversity of antigen epitopes in P17 region was observed than that in P24.Epitope mutations intra subtypes were CRF01_AE>B>B'>CRF07_BC listed in order of size. Conclusion:Itseems that CRF01_AE is under the strongest immune pressures,and displays the most diversity of gene and variation of epitopes intra subtypes prevalent in China, followed by subtype B, B' and CRF07_BC. The discrepancy of epitope mutations intra the subtypes is significant.

OBJECTIVETo investigate the feasibility and clinical significance of detecting sperm mitochondrial function by using Rh123/PI dual fluorescent staining and flow cytometry analysis, and to explore the relationship between the results of Rh123/PI dual fluorescent staining and seminal parameters.

METHODSSixty-three semen samples were classified as normal (n=31) and abnormal (n=32) according to the World Health Organization guidelines. Rh123/PI dual fluorescent staining was then carried out to evaluate sperm mitochondrial function by flow cytometry analysis.

RESULTSSignificant differences in Rh123+ PI-, Rh123- /PI+ and Rh123- /PI- were detected between the normal and abnormal semen samples (P < 0.05). There was a significant positive correlation between the Rh123+ PI- sperm and sperm motility and a significant inverse correlation between Rh123+ PI- and immotile sperm. But the Rh123- PI+ sperm showed a contrary relationship with Rh123+ PI-. A significant inverse correlation was also observed between the Rhl23- /PI- sperm and sperm concentration in the abnormal group.

CONCLUSIONRh123/PI dual fluorescent staining and flow cytometry analysis can readily and quickly detect sperm mitochondrial function and be used to evaluate semen quality.

Adult ; Case-Control Studies ; Flow Cytometry ; Humans ; Male ; Mitochondria ; physiology ; Rhodamine 123 ; Sperm Count ; Sperm Motility ; Spermatozoa ; Staining and Labeling ; methods

OBJECTIVESTo investigate the correlation between scoliosis angle and the asymmetric index of degenerative lumbar scoliosis, the degree of intervertebral disc degeneration, decreased bone density.

METHODSAs a retrospectively study, a total of 96 patients with degenerative lumbar scoliosis were retrospectively enrolled from January 2002 to August 2010 as scoliosis group, meanwhile 96 patients with lumbar spinal stenosis matched in gender, age and body mass index (BMI) were selected as control group. All patients were studied with plain radiographs, MRI and dual energy X-ray absorptiometry at presentation. Radiographic measurements include Cobb angle, the height of the convex and concave side of the apical disc and the contiguous disc superiorly and inferiorly, the height of the convex and concave side of the apical and the contiguous vertebral body superiorly and inferiorly in scoliosis group, the height of L(2-3), L(3-4), L(4-5) discs and the height of L(2-4) vertebral body in control group. The average relative signal intensity of lumbar intervertebral disc and cerebrospinal fluid in T2WI sagittal image was measured in apex intervertebral disc and adjacent discs by Adobe Photoshop 6.0 in scoliosis group, which was measured in L(2-3), L(3-4), L(4-5) disc in control group. The bone density of lumbar, femoral neck, trochanter, and Ward's triangle regions were measured with dual-energy X-ray absorptiometry.

RESULTSThe intervertebral disc height in convex side was greater than the height in the concave side [(40 ± 7) mm vs. (28 ± 7) mm, P < 0.01], the vertebral body height in convex side was greater than the height in the concave side [(76 ± 12) mm vs. (72 ± 10) mm, P = 0.016] in scoliosis group. There was significant statistically difference in the degenerative degree of intervertebral discs between two groups (P = 0.003). There was significant statistically difference of the average T-value and the rate of osteoporosis between two groups (P < 0.01). Multiple linear regression analysis showed that the asymmetric disc index, the degenerative degree of intervertebral disc and osteoporosis were the predominant correlative factors, which affected the development of degenerative lumbar scoliosis.

CONCLUSIONSDegenerative lumbar scoliosis is always accompanied by the height asymmetry of intervertebral discs and vertebral body from convex and concavity sides. There is positive correlation between the angle of scoliosis and the asymmetric disc index, the degeneration of intervertebral disc, and negative correlation between the angle of scoliosis and the bone density (T-value).

Aged ; Bone Density ; Female ; Humans ; Intervertebral Disc ; pathology ; Linear Models ; Lumbar Vertebrae ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Spinal Stenosis ; pathology

OBJECTIVEScreening the intron 1 inversion of factor VIII (FVIII) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis.

METHODSUsing LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in severe HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests.

RESULTSOne hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus.

CONCLUSIONIntron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.

Adult ; Chromosome Inversion ; genetics ; DNA Mutational Analysis ; Factor VIII ; genetics ; Female ; Hemophilia A ; diagnosis ; genetics ; Humans ; Introns ; genetics ; Male ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods

This study was to evaluate the role of reticulated platelets (RP) assay in the distinguishing the different causes of thrombocytopenia. The RP and immature platelet fraction (IPF) were stained by a nucleic acid-specific dye oxazine, and assayed by XE-2100 blood cell counter with an upgraded software in the reticulocyte/optical platelet channel. RP and IPF were measured in 137 thrombocytopenic patients and 187 normal controls. The results showed that the mean IPF was 1.07% in normal controls, and 10.28% in 109 patients with immune thrombocytopenia (p<0.01), RP absolute value in ITP group was higher than that in control group, there was significant difference between them (p=0.036). The mean IPF was 10.47% in patients with primary immune thrombocytopenia (PITP), and 9.45% in patients with secondary ITP (SITP). There was no significant difference of IPF between PITP and SITP group (p=0.635), but IPF in these 2 groups both were significantly higher than the normal controls. The mean IPF in 28 thrombocytopenic patients with hypocellular marrow was 2.37%. There was no difference of IPF between thrombocytopenic patients with hypocellular marrow and the normal controls (p=0.252), but the absolute counts of RP in the former was significantly lower than in the latter (p<0.05). The IPF cut-off for a diagnosis of thrombocytopenia with hypercellular marrow was 2.45%, the sensitivity was 92.7% and specificity 94.1%. It is concluded that the whole-blood IPF measurement by XE-2100 blood cell counter is an useful screening test to differentiate patients with thrombocytopenia of different causes. An IPF above 2.45% has both a high sensitivity and specificity for a diagnosis of thrombocytopenia with a hypercellular marrow.
Adult ; Blood Platelets ; cytology ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Platelet Count ; Purpura, Thrombocytopenic, Idiopathic ; blood ; diagnosis ; Reticulocytes ; cytology ; Young Adult

Adult ; Female ; Humans ; Kidney Neoplasms ; diagnostic imaging ; metabolism ; Neuroectodermal Tumors ; diagnostic imaging ; metabolism ; Radiography ; Young Adult