Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.

Objective: This study evaluated the accuracy of non-invasive prenatal testing (NIPT-SGDs) for dominant monogenic genetic diseases associated with fetal structural abnormalities and to assess the feasibility of clinical application.

Methods: Pregnant women requiring prenatal diagnosis due to fetal structural abnormalities were enrolled. Maternal peripheral blood was analyzed for cell-free DNA (cfDNA) using coordinative allele-aware target enrichment sequencing (COATE-seq).

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Purpose: To analyze the composition of abnormal hemoglobin and the relationship between genotype and phenotype by screening abnormal hemoglobin in a subpopulation of Guizhou, China.

Patients And Methods: Routine blood evaluation, capillary electrophoresis of hemoglobin, and mutation of α - and β - thalassemia genes were evaluated in 19,976 individuals for thalassemia screening in Guizhou. Sanger sequencing of HBA1, HBA2 and HBB genes was performed in samples with abnormal bands or unexplained increases of normal bands.

Correlations between Multiple SNPs and HbF Levels in β-Thalassemia Carriers.

Background: Increased hemoglobin F (HbF) expression in individuals with β-thalassemia contributes to the alleviation of pathological phenomena and the reduction of mortality. We have investigated the correlation between six single nucleotide polymorphisms (SNPs) in BCL11A, XmnI-HBG2, HBS1L-MYB, and ANTXR1 and the levels of HbF in β-thalassemia carriers.

Methods: Samples were collected from 330 cases of β-thalassemia carriers.

A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population.

A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for α- and β-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [: c.206T > C β 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing.

Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.

Objectives: To explore the application of third-generation sequencing (TGS) for genetic diagnosis and prenatal genetic screening of thalassemia genes.

Methods: Two groups of subjects were enrolled in this study. The first group included 176 subjects with positive hematological phenotypes for thalassemia.

Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.

Background: 3-M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely CUL7, OBSL1, and CCDC8. Only a few 3-M syndrome patients have been reported in Chinese population.

Methods: Children with unexplained severe short stature, facial dysmorphism, and normal intelligence in two Chinese families and their relatives were enrolled.

Association of polymorphisms in the HBG1-HBD intergenic region with HbF levels.

Background: Increased levels of fetal hemoglobin (HbF) can improve the clinical course of the patients with sickle cell anemia (SCA) or β-thalassemia. The HBG1-HBD intergenic region plays an important role in this process. However, very few studies investigated whether the variations in this region have an effect on HbF expression.

[Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly].

Objective: To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.

Methods: Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing.

Reference intervals for HbA and HbF and cut-off value of HbA for β-thalassemia carrier screening in a Guizhou population of reproductive age.

Objective: The aims of this study were to establish the reference intervals for HbA2 and HbF in a Guizhou population of reproductive age, and to determine the cut-off value of HbA for β-thalassemia carrier screening.

Methods: Hemoglobin analysis was performed on 832 individuals without hypochromic microcytic anemia to calculate the reference intervals for HbA and HbF. Three hundred and ninety one β-thalassemia carriers and non β-thalassemia individuals were analyzed for their HbA levels followed by detecting β-globin gene mutations, then cut-off value of HbA for β-thalassemia carrier screening was determined using ROC curve analysis.

[Effect of Blocking PYR Complex Binding to DNA Site by Peptide Nucleic Acid on γ-Globin Gene Expression].

Objective: To investigate the effect of blocking polypyrimidine complex binding to DNA site by using peptide nucleic acid (PNA) on γ-globin gene expression.

Methods: PYR-PNA, β-PNA and RS-PNA (random sequence-PNA) were designed and synthesized, then were transfected into K562 cells with the cationic liposome lipofectamine 2000 used as vector. The expression of γ-globin gene at both the transcriptional and translational level was detected by RT-PCR and the Western blot respectively at 24 h, 48 h and 72 h after transfection with PNAs.

The Prevalence and Spectrum of α-Thalassemia in Guizhou Province of South China.

α-Thalassemia (α-thal) is one of the most prevalent genetic diseases in the world and is especially frequent in tropical and subtropical regions, including South China. The aim of this study was to investigate the prevalence and spectrum of α-thal in Guizhou Province as this information was unknown. A total of 40 α-thal carriers were determined in 1219 newborn umbilical cord blood samples by hemoglobin (Hb) electrophoresis combined with DNA analysis, which revealed that the carrier rate of α-thal in Guizhou Province was 3.

[Analysis on effectiveness of platelet transfusion in 1786 patients].

This study was aimed to observe and analyze the effectiveness of platelet transfusion. The platelet count of 1786 patients before transfusion and on 20-24 hours after transfusion was determined by using Auto-Hematology Analyzer, the percent platelet recovery (PPR) was calculated, the platelet transfusion efficiency (PTE) was evaluated by PPR and hemorrhage presentation after platelet transfusion, and the PTE was statistically analyzed according to disease cause, transfusion frequency, platelet type and once transfusion amount. The results showed that the total PTE of 1786 patients was 52.

Efficacy and safety of interferon-gamma-targeted therapy in Crohn's disease: a systematic review and meta-analysis of randomized controlled trials.

Aims: To evaluate the efficacy and safety of interferon-gamma-targeted therapy in Crohn's disease (CD).

Methods: Keyword and MeSH searches of MEDLINE/PubMed, EMBASE, the Cochrane Database, Science Citation Index and the Chinese Biomedical Database, from the inception of each database to March 2012, were used to identify all available randomized controlled trials. Summary estimates of treatment effects and safety were produced with Review Manager, using relative risks (RR) of clinical response, clinical remission and adverse events rates.

[Clinical applications of dosing algorithm in the predication of warfarin maintenance dose].

Objective: To evaluate the feasibility of clinical application for genetic based dosing algorithm in the predication of warfarin maintenance dose in Chinese population.

Methods: The clinical data were collected and blood samples harvested from a total of 126 patients undergoing heart valve replacement. The genotypes of VKORC1 and CYP2C9 were determined by melting curve analysis after PCR.

[Impact of five genetic polymorphisms on inter-individual variation in warfarin maintenance dose].

Objective: To investigate the effect of genetic polymorphisms in VKORC1, CYP2C9, GGCX, EPHX1, APOE genes on inter-individual variation in warfarin maintenance dose.

Methods: Two hundred and forty-nine patients with stable warfarin dose were enrolled in this study, and the clinical data and blood samples of the patients were collected. Genotypes for the 5 genes were determined by using PCR and denaturing high performance liquid chromatography (DHPLC) assay.

Association between apolipoprotein E gene polymorphism and the dose for warfarin maintenance.

Objective: To investigate the association between the apolipoprotein E (apoE) gene polymorphism and the dose for warfarin individual maintenance.

Methods: The genotypes of 249 patients with warfarin treatment in maintenance doses were determined by PCR/DHPLC assay. The doses for warfarin maintenance were compared among patients with different genotypes.

[Effect of ginkgo biloba extract on plasma vascular endothelial growth factor during peri-operative period of cardiac surgery].

Objective: To investigate the effect and clinical value of ginkgo biloba extract (Ginaton) on the plasma vascular endothelial growth factor (VEGF) in patients during peri-operative period of cardiac surgery.

Methods: Twenty patients scheduled to receive cardiac operation were randomly assigned to 2 groups by a digital table. For the 10 patients in the control group, the cardiopulmonary bypass (CPB) was established in routine and received cold (4 degrees C) St.

[Effects of Ginaton on the markers of myocardial injury during cardiopulmonary bypass].

Objective: To evaluate the effects of Ginaton (Ginkgo biloba leaf extract) on the myocardial injury markers (MIMs) during cardiopulmonary bypass (CPB).

Methods: Forty patients with congenital heart diseases, scheduled to take atrial septum or ventricular septum repairing operation, were randomly divided into the Ginaton group and the control group, 20 cases in each group. Patients in both groups received St.