Advance in Development of Neurons and Glial Cells in Brain Tissue of Children with Autism Spectrum Disorder (review) / 中国康复理论与实践

Autism spectrum disorder is a group of neurodevelopmental disorders that occur in early childhood. The specific pathogenesis is not clear. Abnormal development of neurons and glial cells is a significant feature of patients with autism spectrum disorder. This article reviewed the changes in neurons, astrocyte, microglial cell and oligodendroglia cell in autism spectrum disorder.

Preliminary study on the risk of macrosomia using Bayesian discriminant analysis based on prenatal records / 中华疾病控制杂志

Objective To explore the clinical effect of Bayesian discriminant analysis in predicting the risk of macrosomia. Methods 169 fetal macrosomia and 169 non-macrosomia were enrolled in a 1:1 matched case-control study. Conditional Logistic regression was used to select the discriminant indexes,and the discriminant indexes were put into the Bayesian discriminant model to obtain the Bayesian discriminant function. The discriminant function was the retrospectively examined and externally tested. Results The results of conditional Logistic regression model indicated that mother's height, early pregnancy body mass index (BMI), gestational diabetes, gestational weeks, the height of uterine and abdominal circumference were associated with the birth of fetal macrosomia. The Bayesian discriminant function were established: Fetal macrosomia:y1=-27.802+8.420×Mother＇s height+8.719×early pregnancy BMI+10.485×gestational weeks+3.375×gestational diabetes+2.862×height of uterine and abdominal circumference; Non-macrosomia y2=-17.477+7.161×Mother＇s height+7.217×early pregnancy BMI+7.862×gestational weeks+2.036×gestational diabetes-0.085×height of uterine and abdominal circumference. Wilks′ Lambda λ=0.489, P<0.001, the Bayesian discriminant function was statistically significant. The internal and external conformity rates of the Bayesian discriminant model were all more than 80%. Conclutions The birth of fetal macrosomia is related to many factors. The Bayesian discriminant model in the present study is valuable to discriminate macrosomia and provide an objective reference for more accurate identification of macrosomia in the future.

Molecular basis and clinical transfusion of a family with Bw subtype of ABO blood group system / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study a family with Bw subtype of ABO blood group system, and to review safety issues in relation with clinical transfusion.</p><p><b>METHODS</b>The molecular basis for the blood type was studied with serological assay, polymerase chain reaction-sequence specific primer (PCR-SSP) and DNA sequencing, TA clone and haplotype analysis in one blood donor whose ABO blood group were difficulty typed and her family. The bioinformatics analysis was carried out by biological analysis software to investigate the change of structure and function of enzymes influenced by the change amino acid. A retrospective survey was carried out to investigate what is the actual position that the donor blood was used in the clinical transfusion.</p><p><b>RESULTS</b>Three members from the family were found to have a Bw subtype. A substitution of nucleotide C by T at position 721 in exon 7 was discovered, which resulted in replacement of amino acid Arg to Trp. Review of clinical record suggested that there has been no significant abnormality association with past three blood transfusions.</p><p><b>CONCLUSION</b>A 721C>T mutation of the ABO gene probably underlies the Bw subtype. Further research is needed for understanding the clinical significance of this subtype in the blood transfusion.</p>

Mutational analysis for FUT1 gene in two cases with para-Bombay blood type / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study two cases of rare para-Bombay blood types Bmh and Amh in order to determine clinical strategies of blood transfusion.</p><p><b>METHODS</b>ABO blood type was determined with serological assays. The samples were also genotyped with polymerase chain reaction-sequence specific primer (PCR-SSP) for potential mutations in α-1,2-fucosyltransferase gene (FUT1). The results were verified with direct sequencing.</p><p><b>RESULTS</b>Two rare para-Bombay blood types, namely Bmh and Amh, were identified by serological method, with one being BO1 which contained a FUT1 allele 547-548delAG deletion (h1h1), and another being A205O2 which contained FUT1 allele a 547-548delAG deletion and a FUT1 allele 658C/T missense mutation (h1h3).</p><p><b>CONCLUSION</b>FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. As Bmh and Amh contain anti-HI in sera, great attention should be paid to avoid adverse reaction of blood transfusion in clinics.</p>

Analysis of phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia / 中华血液学杂志

<p><b>OBJECTIVE</b>To analyze the phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia.</p><p><b>METHODS</b>Laboratory tests including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), reptilase time (RT), and the activities of antithrombin (AT:C), protein C (PC:C) and protein S(PS:C) were detected in three pedigrees. The activity and antigen of plasma fibrinogen (Fg) were analyzed by Clauss and immunoturbidimetry methods, respectively. The Fg of three probands was assessed by Western blot and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). The sequences of all the exons and exon-intron boundaries of the three Fg genes FGA, GFB and FGG were amplified by PCR and analyzed by direct sequencing.</p><p><b>RESULTS</b>Three probands had normal APTT, PT, PC:C, PS:C and AT:C, but prolonged TT and RT. The activity levels of the 3 probands's plasma Fg were reduced, but antigen levels were normal. Western blot and SDS-PAGE showed no abnormal molecular weight of Fg. The 3 heterozygous mutations of γ Arg275His, Aα Pro18Leu and Aα Arg16Cys were identified in the 3 probands, respectively.</p><p><b>CONCLUSION</b>The three probands with dysfibrinogenemia were caused by the mutations of γ Arg275His, Aα Pro18Leu and Aα Arg16Cys, respectively. Both Aα Pro18Leu and Aα Arg16Cys were first reported in Chinese population.</p>

Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency / 中华血液学杂志

<p><b>OBJECTIVE</b>To identify the phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V (FV) deficiency.</p><p><b>METHODS</b>The tests of activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) were used for phenotype diagnosis. All the exons and exon-intron boundaries of F5 gene were amplified by PCR and analyzed by direct sequencing.</p><p><b>RESULTS</b>The APTT and PT in each of the four probands were obviously prolonged, and both activity and antigen of FV in the four probands were extremely lower compared with that of normal mixed plasma. Sequencing of F5 gene in proband 1 identified a heterozygous mutation, G16088C (Asp68His), and four polymorphisms, T35788C (Met385Thr), A47295G (His1299Arg), A58668G (Met1736Val) and A74083G (Asp2194Gly), which were located in the same chromosome; proband 2 was homozygous for two mutations, C46253T (Arg952Cys) and C46724T(Gln1109stop); the F5 gene of proband 3 showed a homozygous missense mutation, C67793G(Pro2006Ala); and proband 4 was homozygous for one missense mutation, C74022T (Arg2174Cys).</p><p><b>CONCLUSION</b>Five mutations (Asp68His, Arg952Cys, Gln1109stop, Pro2006Ala and Arg2174Cys) and four polymorphisms (Met385Thr, His1299Arg, Met1736Val and Asp2194Gly) may lead to type I inherited FV deficiency for these four probands, respectively. Gln1109stop, Pro2006Ala and Arg2174Cys haven't been identified before.</p>