Objective To explore the association of-11377 site single nucleotide polymorphism in promoter region of adiponectin gene and carotid intima-media thickness(CIMT)in patients with type 2 diabetes mellitus.Methods The adiponectin gene-11377C→G polymorphism was identified by PCR-restriction fragment length polymorphism(RFLP)in 504 patients with type 2 diabetes mellitus(250 patients with increased CIMT and254 Datients with normal CIMT). Serum lipid and fasting plasma glucose were detected by full automatic biochemical analysor.fasting serum insulin(FINS) was measured by radioimmunoassay,and serum adiponectin level was assessed by ELISA.Results The frequencies of adiponectin gene-11377C→G genotype and allele were different between type 2 diabetic patients with normal and increased CIMT(P

ObjectivesTo investigate the clinical value of the melting curve analysis-based PCR assay for the clinical genetic diagnosis and prenatal diagnosis of β-thalassemia.Methods A total of 451 peripheral blood samples,including 372 cases with β-thalassemia phenotypes and 79 cases without β-thalassemia phenotypes,were collected by Liuzhou Municipal Maternity and Child Healthcare Hospital between January 2011 and August 2011.Moreover,another 84 cases,including 16 fetal villi samples (10 - 13 weeks),64 amniotic fluid samples (16 -24 weeks ) and 4 umbilical cord blood samples (above 17 weeks),whose parents were β-thalassemia carriers,were also collected for this assay between June 2011 and September 2011.A double-blind test was done to compare the detection reliability of the melting curve analysis-based assay (24 β-thalassemia mutations can be detected) with PCR-RDB probe assay (17 β-thalassemia mutations can be detected ) and DNA sequencing using these samples.The wildtype,mutant and total concordance rates of the genotyping results were calculated separately among the melting curve analysis based assay,PCR-RDB probe assay and DNA sequencing.Results Among the 451 peripheral blood samples,thirteen mutations and nineteen genotypes were obtained by using melting curve analysis-based assay.447 samples had the same detection results and 4 samples had different detection results by comparing melting curve analysis-based assay with PCR-RDB probe assay,thus,the concordance rate of the sample detection result was 99.1％ (447/451),and the concordance rate of the allele detection result was 99.6％ (898/902).DNA sequencing results of the 4 samples showed that 3 samples had the same genotyping result with melting curve analysis-based assay,and 1 sample had the same genotyping result with PCR-RDB probe assay.A rare β-globin mutation which was not included by melting curve analysis-based assay was not detected.Thus,the genotypes of 450 samples were detected accurately by melting curve analysis-based assay,and the concordance rate of the sample detection between the melting curve assay and DNA sequencing assay was 99.8％ (450/451).Among 84 fetal villi,amniotic fluid,and umbilical cord blood samples,8 mutation types and 18 genotypes were obtained by using melting curve analysis-based assay.All the samples have the same detection results by comparing melting curve analysis-based assay with PCR-RDB probe assay and DNA sequencing,so the concordance rate of the genotyping results was 100％ among the melting curve analysis-based assay,PCR-RDB probe assay and DNA sequencing.Conclusions The melting curve analysis-based PCR assay can detect multiple unknown samples simultaneously,and detect multiple mutations accurately.It is very useful for the genetic diagnosis and prenatal diagnosis of β-thalassemia.

ObjectiveTo explore the difference in quality of life in patients with gastrointestinal cancer between those who knew cancer diagnosis and those who did not.Methods 130 patients with recently diagnosed gastrointestinal cancer in 4 general hospitals in Tangshan were interviewed. Patients were categorized into two groups:one group was those who knew their diagnosis(n=62) and the other group was those who did not ( n =68).The Chinese version of European Organization for Research and Treatment (EORTC) quality of life (QOL)questionnaire (QLQ-C30) was used.ResultsThe comparison of quality of life between patients who knew their diagnosis and those who did not indicated that the score of global quality of life and other functional scales including physical,emotional,role and cognitive functioning did not show significant difference(P ＞ 0.05 ).Compared with those who did not know cancer diagnosis,patients who were aware of diagnosis showed a significant lower degree of social functioning ( (45.8 ± 24.2 ) vs ( 73.0 ± 16.2 ) ),a significant higher degree of fatigue ( ( 55.8 ±26.2) vs (41.8 ±10.2) ) and financial difficulties ((38.2 ±35.1) vs (12.00 ±10.0) ) (P＜0.01).In multiple regression analysis,physical functioning and symptom of fatigue had statistically significant differences (P＜ 0.05 ).ConclusionThe knowledge of cancer diagnosis does not contribute to the quality of life in patients with gastrointestinal cancer.

Two patients with typical Gitelman syndrome were diagnosed by gene and their clinical data and endocrine and metabolic status were evaluated.The etiology,clinical manifestation,laboratory findings,genetic diagnosis,and treatment for Gitelman syndrome were reviewed.

Objective To investigate the clinical therapeutic value of CRRT on severe sepsis coincidence with capillary leak syndrome in surgical patients. Methods 38 patients suffering from severe sepsis coincidence with capillary leak syndrome were random divided into routine group ( n = 18 ) and CRRT group ( n =20). Both groups were given routine treatment, while the patients of CRRT group were given CRRT in addition. Red blood cell count (RBC), haematoglobin level, blood platelets count, leukocyte count, hematocrit (HCT), plasma-albumin level, central venous pressure ( CVP), arterial blood pressure ( ABP), urinary production change of every hour, oxygenation index condition ( PO2\FiO2 ) were measured at 0, 12, 24, 48,72 hour following routine treatment or CRRT. Additionally, serum levels of tumor necrosis factor- a (TNF-α), interleukin-6 (IL-6) and interleukin-8(IL-8) were determined at the same time. Results Blood platelets count, HCT, plasma-albumin level in CRRT group were significantly higher than those of routine group [72 h: (211. 75 ± 45. 23 ) × 109 vs ( 135.67 ± 41.45 ) × 109 ;0. 43 ± 0. 05 vs 0. 35 ±0. 04; (48. 60 ±4. 76) g/L vs (41.17 ±4. 64) g/L, P <0. 01 ]. WBC were significantly lower than those of routine group[72 h:(7.58 ±2.31) ×109 vs (13.77 ±2.67) × 109, P <0.01]. Change of ABP, PO2\FiO2, urinary production for every hour was notably increased than those of routine group [72 h: (94. 25 ±8.60) mmHg vs ( 84. 22 ± 7. 37 ) mmHg; 345. 25 ± 35. 21 vs 304. 22 ± 38. 74; ( 80. 15 ± 14. 54 ) ml vs (62. 72 ± 12. 33) ml, P <0. 01 ]. The serum levels of TNF-α, IL-6 and IL-8 of CRRT group were markedly decreased compared with those of routine group(72 h:249. 55 ±99. 60 vs 368. 83 ±97. 11 ;600. 75 ±98. 31 vs 718. 94 ± 92. 00 ;665. 35 ±138. 44 vs 843. 22 ±123. 95 , P <0. 01,P <0.05). Conclusions CRRT can significantly improve patient's condition, which may be an effective nechanism to treat the surgical patients with severe sepsis coincidence with capillary leak syndrome.

Objective To investigate the relationship between the urinary albumin excretion (UAE) and serum uric acid in general population. Methods The study participants were derived from the epidemiological study on the association of metabolic syndrome and chronic kidney disease (CKD) in Pinggu district, Beijing. A total of 992 participants (463 men and 529 women) aged from 30 to 75 years were enrolled in this study. For each participant, UAE, serum uric acid, serum creatinine, and serum lipids were detected and other potential risk factors for CKD were surveyed. Results ( 1 ) The frequencies of microalbuminuria, macroalbuminuria and hyperuricemia were 12.9% , 1.8% and 4.3% respectively. The persons with hyperuricemia had significantly higher frequency of albuminuria than those without hyperuricemia (37. 2% vs 13. 7% , P ＜0. 01). (2) The participants were divided according to the quartiles (25% , 50% , 75% ) of serum uric acid level, and the frequencies of albuminuria in males were 13. 2% , 13. 9% , 17. 2% and 25.4% , while those in females were 8. 4% , 6. 2% , 9. 6% and 24. 8%. ( 3 ) Multivariate logistic regression analysis showed, hyperuricemia was significantly associated with albuminuria in females (OR =2. 31, 95% CI 1. 15-4. 68; P=0.02), but not in males. If the persons with reduced renal function were excluded, similar result still could be gained. Conclusions The prevalence of albuminuria increases gradually with uric acid elevation. Serum uric acid is an independent risk factor of elevated UAE, especially in females.

Objective To investigate the discriminator value of Han Chinese first morning urine albumin creatinine ratio (ACR) for determining the microalbuminuria. Methods A total of 1056 participants (494 males and 562 females) were selected from epidemiologic study of the metabolic syndrome and chronic kidney disease in Pinggu district, Beijing. Eight-hour overnight urinary albumin excretion (UAE) was regarded as the gold standard for defining the albuminuria,and the ROC curve analysis was used to determine the ACR discriminator value for microalbuminuria. Results (1)Microalbuminuria was found in 12.5% of participants,macroalbuminuria in 1.7%. (2)The ACR discriminator value for microalbuminuria by ROC curve analysis was 1.95 g/mol (sensitivity 97.6% and specitivity 88.6%) for men, 3.62 g/mol(sensitivity 83.8% and specitivity 89.1%) for women, 2.78 g/mol (sensitivity 88.7% and specitivity 85.9%)for overall. The upper boundary of microalbuminuria by ROC curve analysis was 22.59 g/mol (sensitivity 100.0% and specitivity 98.8%) . (3)The inter-rater agreement of the result in this study showed that sensitivity was 91.3% and specitivity was 88.2%, positive likelihood ratio was 7.56 and negative likelihood ratio was 0.10, positive predictive value was 56.9% and negative predictive value was 98.4%. Conclusions The ACR discriminator value for determining microalbuminuria is obviously higher in women than that in men, and is higher than recommendation of international guidelines. The result by ROC curve analysis has better sensitivity and specitivity.

OBJECTIVETo evaluate the clinical value of multicolor melting curve analysis(MMCA) for detecting genetic mutations in G6PD deficiency.

METHODSA total of 402 peripheral blood samples(256 males and 146 females) were collected from suspected patients or their relatives at the Prenatal Diagnosis Center of Liuzhou Maternal and Child Health Hospital between March 2012 and May 2012. The samples were screened by G6PD/6PGD quantitative ratio testing. The reliability of the assay was evaluated by multiplex probe melting curve assay(which can detect 16 G6PD mutations) and DNA sequencing through a double blind study.

RESULTSOne hundred seventy cases with G6PD/6PGD ratio < 1.0 and 232 cases with G6PD/6PGD ratio ≥ 1.0 were detected by the enzymological method. DNA sequencing has identified 182 wild type samples, 151 hemizygous mutation samples, 5 female homozygous mutation samples, 54 female heterozygous mutation samples and 10 female double heterozygous mutation samples. Multicolor melting curve analysis has detected 185 wild type samples, 148 hemizygous mutation samples, 5 female homozygous mutation samples, 55 female heterozygous mutation samples and 9 female double heterozygous mutation samples. The specificity and sensitivity of G6PD gene mutation detection by multicolor melting curve analysis were 100%(182/182) and 98.6%(217/220), respectively. The positive predictive value and negative predictive value were 99.5%(216/217) and 98.4%(182/185), respectively, and the Youden's index was 0.986. The concordance rate of the sample detection between the melting curve assay and DNA sequencing was 99.0%(398/402). Twenty-one different genotypes were detected by the multicolor melting curve analysis and 24 different genotypes were detected by DNA sequencing. Four samples containing mutations(c.196T>A or c.406C>T) were not detected by multicolor melting curve analysis, which can be attributed to different technical settings of the two methods.

CONCLUSIONMulticolor melting curve analysis for G6PD gene mutation detection is a simple, rapid, sensitive and specific method, which can be used for clinical diagnosis of G6PD deficiency.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

Objective:To investigate the clinical features, treatment and prognosis of anti-γ-aminobutyric acid type B receptor (GABA B R) encephalitis. Methods:Retrospective analysis of five patients of anti-GABA BR encephalitis from the Department of Neurology, the University of Hong Kong-Shenzhen Hospital from September 2017 to June 2019 was carried out. Clinical manifestations, auxiliary examination, and treatment were analyzed. The patients were followed up for 3.5-23.0 months to assess their prognosis. Results:Five cases of anti-GABA BR encephalitis (19-81 years old) presented acute onset, with refractory epilepsy as the main clinical manifestation. There were hyperintensive signals on T 2/fluid attenuated inversion recovery in four patients′ temporal lobe and hippocampus. Electroencephalogram showed slow wave or epileptic discharge; Lung mass was found in four patients, and all were small cell lung cancer. Five cases had poor response to first-line immunotherapy (intravenous use of pulse methylprednisolone, high dose immunoglobulin or plasma exchange), then three patients received second-line immunotherapy (rituximab, cyclophosphamide), two of whom with tumor also received tumor chemotherapy. Patients who received second-line treatment and tumor chemotherapy showed better outcome than those who only received first-line treatment. Conclusions:Anti-GABA BR encephalitis present with limbic encephalitis syndromes characterized by refractory epilepsy. For patients with poor response to first-line immunotherapy, initiating second-line immunotherapy as soon as possible can improve the prognosis significantly.

OBJECTIVE: To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China. METHODS: From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene. RESULTS: In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected. CONCLUSION Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.
China ; Female ; Genetic Counseling ; Genetic Variation ; Genotype ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; alpha-Globins ; genetics ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; genetics