To evaluate the clinical value of multicolor melting curve analysis(MMCA) for detecting genetic mutations in G6PD deficiency.A 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.One 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.Multicolor 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.
High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities. This study identifies chromosomal abnormalities in aborted embryos/fetuses in early and middle pregnancy and explores the application value of CNV-seq in determining the causes of pregnancy termination. High-throughput sequencing was used to detect chromosome copy number variations (CNVs) in 116 aborted embryos in early and middle pregnancy. The detection data were compared with the Database of Genomic Variants (DGV), the Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER), and the Online Mendelian Inheritance in Man (OMIM) database to determine the CNV type and the clinical significance. High-throughput sequencing results were successfully obtained in 109 out of 116 specimens, with a detection success rate of 93.97%. In brief, there were 64 cases with abnormal chromosome numbers and 23 cases with CNVs, in which 10 were pathogenic mutations and 13 were variants of uncertain significance. An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.
Objective
To determine whether anticoagulation markers can improve mortality prediction in patients of surgical intensive care unit (ICU).
Methods
A case-control study was adopted,252 patients from Tongji hospital′s surgical ICU and 30 healthy control individuals were investigated. The protein C,antithrombin,thrombomodulin,and other coagulation/inflammatory markers were detected.The Acute Physiology and Chronic Health EvaluationⅡ (APACHEⅡ) score were obtained.Markers level comparison among survivors,non-survivors and controls were conducted with single factor variance analysis,Kruskal-Wallis test or Mann-Whitney U test.
Results
Between survivors and non-survivors after 28-day hospitalization,there were significant difference on protein C levels[(70.2±22.7)% vs (48.6±29.8)%,t=2.84,P<0.01],APACHEⅡ scores[(21.0±8.2) vs (29.5±10.9),t=-2.51,P<0.05]and prothrombin times[(12.9±3.5) s vs (18.8±10.2) s,t=-2.13,P<0.05].Combining protein C levels with APACHEⅡ score could obtain a higher mortality prediction efficiency in patients of surgical ICU than any single marker (AUC=0.806).That protein C concentration less than 47.5%[OR=6.40,95% confidence interval (CI) 2.526-16.216,P<0.001] and APACHEⅡ score (OR=1.123,95% CI 1.012-1.250,P<0.05) were the independent risk factors for surgical ICU death.
Conclusion
Decrease of protein C levels predict increase of mortality risk in patients of surgical ICU,combining protein C with APACHEⅡ score can improve the prognostic accuracy for patients of surgical ICU.(Chin J Lab Med,2013,36:339-342)
Key words:
Intensive care units; Protein C; Biological markers; Death; Risk factors; APACHE
Intestinal parasitic infection may cause many health problems in children throughout the developing world and lead to micro-nutrient deficiencies, anaemia, retarded growth and development. It is important to recognise the less overt and subtle manifestations of parasitic infections in vulnerable hosts, especially in children below six years of age. A cross-sectional study was carried out in eight urban kindergartens in Beibei, China, with the purpose of achieving a better understanding of the distribution of entero-parasites. One thousand, seven hundred and forty-nine children aged 2–6 years were selected randomly for the study. Ethics approvals were obtained both from Beibei Education Committee and Beibei Health Bureau before the survey. Stool and anal swab specimens of the children were analysed by the modified Kato-Katz thick smear method and by direct microscopy. The prevalence rate for the three parasites was 14.9% (16.3% in males and 13.6% in females) and varied from 2.6–37.0% for each of the eight kindergartens. The overall prevalence for Ascaris lumbricoides was 6.2%, while for Trichuris trichiura it was 0.9% and for Enterobius vermicularis was 7.8% (Table 1). Prevalence also varied by age: for A. lumbricoides it was 4.7–11.3%, for T. trichiura it was 0–7.5%, for E. vermicularis it was 0–11%. No consistent relationship between age and parasite prevalence was seen.Table 1Prevalence rates (%) of parasites in kindergarten children in Beibei, RC.KindergartenAscaris lumbricoidesTrichuris trichiuraEnterobius vermicularisTotal11.01.00.52.625.91.006.937.00.43.511.046.94.2011.155.20.39.114.667.31.112.921.376.7020.026.7817.42.217.437.0 Open table in a new tab The overall prevalence rate of below 15% for the three parasites in children was much less than that of 25–90% reported amongst healthy preschool-age children in some tropical areas.1de Silva N.R. de Silva H.J. Jaypani V.P. Intestinal parasites in the Kandy area, Sri Lanka.Southeast Asian J Trop Med Public Health. 1994; 25: 469-473PubMed Google Scholar, 2Martin J. Keymer A. Isherwood R.J. Wainwright S.M. The prevalence and intensity of Ascaris lumbricoides infections in Moslem children from northern Bangladesh.Trans R Soc Trop Med Hyg. 1983; 77: 702-706Abstract Full Text PDF PubMed Scopus (53) Google Scholar, 3Olsen A. The proportion of helminth infections in a community in western Kenya which would be treated by mass chemotherapy of school children.Trans R Soc Trop Med Hyg. 1998; 92: 144-148Abstract Full Text PDF PubMed Scopus (29) Google Scholar The prevalence rate of parasites in general and of Ascaris lumbricoides in particular was significantly higher in boys than in girls in the five age groups. This can be attributed to the fact that boys are more active and mobile and thus more integrated into their environment, and have greater contact with potential sources of infection. This finding is consistent with earlier reported studies.4Malta RCG Waib C.M. Branco A.C. Epidemiologic evaluation of enteric parasites in children at nursery school, Lins (SP, Brazil).Revista de Patologia Tropical. 2002; 31: 109-120Google Scholar, 5Dagoye D. Bekele Z. Woldemichael K. Nida H. et al.Wheezing, allergy, and parasite infection in children in urban and rural Ethiopia.Am J Respir Crit Care Med. 2003; 167: 1369Crossref PubMed Scopus (154) Google Scholar This study again confirms that parasite infection is most common in children under the age of five.5Dagoye D. Bekele Z. Woldemichael K. Nida H. et al.Wheezing, allergy, and parasite infection in children in urban and rural Ethiopia.Am J Respir Crit Care Med. 2003; 167: 1369Crossref PubMed Scopus (154) Google Scholar, 6Millet V.E. Spencer M.J. Chapin M.R. Garcia L.S. Yatabe J.H. Stewart M.E. Intestinal protozoan infection in a semicommunal group.Am J Trop Med Hyg. 1983; 32: 54-60PubMed Google Scholar Thus far it has been shown that parasite burdens are sex-dependent, age-dependent and kindergarten-dependent. Proper health care and health education of kindergarten children is essential for reduction and control of enteric parasite infections. Conflict of interest: No conflict of interest to declare.
Background: Intravenous thrombolysis (IVT) therapy with recombinant tissue plasminogen activator (rtPA) in acute ischemic stroke (AIS) has a known risk of intracerebral hemorrhage (ICH). We aimed to identify the predictive value of coagulation factor XIII (FXIII) on post-thrombolytic ICH risk in AIS patients.Methods: The study cohort included 69 diagnosed AIS patients undergoing IVT treatment within 24 hours of symptom onset. Blood samples taken on admission were analyzed for FXIII antigen levels with an automated latex enhanced immunoassay. Conventional coagulation parameters including prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), and D-dimer (DD) were also tested.Results: Of the 69 AIS patients, 23 (33.3%) developed post-thrombolytic ICH. Plasma FXIII levels showed a significant decrease, accompanied with elevated FIB and DD levels in AIS patients with post-thrombolytic ICH. Multivariable logistic regression (LR) revealed that FXIII and FIB were independently associated with post-thrombolytic ICH progression. Area under receiver operating characteristic curve of FXIII selected by the further forward logistic regression was 0.823 [95% confidence interval (CI): 0.712–0.904], and the cutoff value of 76.6% yielded good sensitivity at 91.3% and good negative predictive value (NPV) at 93.9%.Conclusions: Our findings indicated that plasma FXIII level may be an independent determinant for predicting post-thrombolytic bleeding risk in AIS patients.
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