Oxidative Stress Status and Its Effect on Regulation of Hepcidin in Patients with HbHCS / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the oxidative stress status and its effects on hepcidin in patients with hemoglobin H Constant Spring disease (HbH-CS).</p><p><b>METHODS</b>A total of 35 patients were enrolled in the study, including 15 splenectomized cases and 20 non-splenectomized cases. 20 healthy volunteers were selected as controls. Serum superoxide dismutase (SOD), malondialdehyde (MDA), glutathione (GSH), oxidized glutathione (GSSG) levels, erythropoietin (EPO), serum free transferrin receptor (sFTR), growth differentiation factor 15 (GDF15) as well as the level of hepcidin were detected. Correlation analysis and multiple factor regression analysis were performed to investigate the factors affecting the iron metabolism and erythropoiesis.</p><p><b>RESULTS</b>Compared with healthy control, the SOD and GSH levels in patients with HbHCS decreased, while MDA and GSSG levels increased. The levels of SOD, MDA, GSG and GSSG were not significantly different between the patients with splenectomy and those without splenectomy. Correlation analysis showed that inpatients with HbHCS, EPO, sFTR and GDF15 correlated negatively with SOD level and positively with MDA level. EPO and sFTR levels negatively correlated with Hepcidin.</p><p><b>CONCLUSION</b>Excessive oxidative stress is present in patients with HbHCS, and hepcidin is inhibited by the upregulation of EPO and sFTR, and hence involved in iron overload in patients.</p>

Fetal reduction by bipolar cord coagulation in managing complicated monochorionic multiple pregnancies: preliminary experience in China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Monochorionic multiple pregnancies (MMPs) are associated with higher rates of perinatal morbidity and mortality caused by interfetal vascular anastomoses in the monochorionic placenta, which can lead to fetal health interactions. In some circumstances, selective feticide of the affected fetus is necessary to save the healthy co-twin. We evaluated the effects and safety of our initial experiences using bipolar cord coagulation for the management of complicated MMPs.</p><p><b>METHODS</b>Using ultrasound-guided bipolar cord coagulation, we performed selective feticide on 14 complicated MMPs (5 with twin-twin transfusion syndrome, 4 with acardia, 3 with discordant structural anomalies, and 2 with severe selective intrauterine growth restriction). One patient with monochorionic triplets received the procedure twice to terminate 2 affected fetuses for different indications. Data regarding the operations, complications and neonatal outcomes were analyzed.</p><p><b>RESULTS</b>Cord occlusions were successfully performed in 13/14 (93%) cases. The failure happened in an acardiac fetus and the pregnancy was terminated by induction. The included cases delivered at a mean gestational age of 35.4 weeks with a perinatal survival rate of 11/13 (85%). Three operation-related complications occurred (21%), including membrane rupture of the terminated sac (1 case), preterm labor at 28 weeks gestation (1 case), and chorioamniotic membrane separation (1 case). Amnioinfusion was indicated in 11 procedures to expand the target sacs for entering the trocar and obtaining sufficient working space. However, in all 4 cases of acardia, the acardiac sacs showed extreme oligohydramnios and could not be well expanded by infusion; thus, the trocar had to be inserted from the sac of the preserved co-twin.</p><p><b>CONCLUSIONS</b>The application of bipolar cord coagulation in complicated MMPs is safe and improves the prognosis. Amnioinfusion is useful in helping to expand the target sac when the working space is limited.</p>

Prenatal diagnosis of achondroplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To diagnose achondroplasia prenatally by FGFR3 gene detection.</p><p><b>METHODS</b>Seventy-eight fetuses affected by short-limb dysplasias were recruited. Umbilical blood sampling was employed to obtain fetal blood for karyotyping and FGFR3 gene detection. Genomic DNA was extracted, and the exon 10 of the FGFR3 gene was amplified. PCR amplicons were analyzed by DNA sequencing and restriction fragment length polymorphism with Bfm I. The FGFR3 exon 10 from the parents of the positive fetuses was screened by the same method.</p><p><b>RESULTS</b>In 78 fetuses affected with short-limb dysplasias, 8 cases had G1138A heterozygotic mutation and normal karyotype, and were diagnosed as achondroplasia. The other 70 fetuses had normal nucleotide at nucleotide 1138 in exon 10 of FGFR3, therefore were excluded from achondroplasia. Only one father in parents of the 8 achondroplasia fetuses also had the G1138A mutation.</p><p><b>CONCLUSION</b>Achondroplasia could be diagnosed prenatally in the fetuses affected with short-limb dysplasias by using PCR-RFLP and DNA sequencing of the exon 10 of the FGFR3 gene.</p>

Relationship between the genotype and hematologic characteristics in the fetuses with thalassemia / 中华儿科杂志

<p><b>OBJECTIVES</b>To investigate the relationship between the genotype and the hematologic characteristics in the fetuses with different types of thalassemia.</p><p><b>METHODS</b>Fetal blood samples were taken by cordocentesis, and hemograms from 572 fetuses at the gestational age of 18 to 38 weeks were examined. According to the genotypes of thalassemia, there were 117 fetuses with heterozygous alpha-thalassemia-1, and 60 with homozygous alpha-thalassemia-1. Twenty had beta-thalassemia mild, and 9 had beta-thalassemia major, respectively. The hematological parameters in these groups were compared with reference group in which 366 cases were included.</p><p><b>RESULTS</b>In alpha-thalassemia groups, hemoglobin (Hb), hematocrit (HCT), mean cell volume (MCV), mean cell hemoglobin (MCH), and mean cell hemoglobin concentration (MCHC) significantly decreased (P < 0.001), but in heterozygous alpha-thalassemia-1, red blood cell (RBC) increased. In homozygous alpha-thalassemia-1, RBC decreased significantly (P < 0.001), but white blood cell and nucleated erythrocyte increased (P < 0.001). There were no significant differences between beta-thalassemia and reference group in most hematological parameters except for decrease of MCHC.</p><p><b>CONCLUSIONS</b>In the fetal period, the hemogram of the fetuses with alpha-thalassemia changes significantly, while it does not change in beta-thalassemia. For the couple with heterozygous alpha-thalassemia, hemogram can provide some information for prenatal screening and diagnosis for those fetuses with alpha-thalassemia, especially for homozygous, but genotype detection is necessary for confirming the diagnosis.</p>