Evaluating a Novel Newborn Screening Methodology: Combined Genetic and Biochemical Screenings.

PURPOSE: Analysis of four newborn screening modes using newborn genomic sequencing (nGS) and traditional biochemical screening (TBS). METHODS: Prospective clinical study with a total of 1,012 newborn samples from retrospective TBS. Three independent groups performed the study under strict double-blind conditions according to the screening modes: independent biochemical (IBS), independent NeoSeq (INS), sequential (SS), and combined (CS) screening. Using targeted sequencing, the NeoSeq panel included 154 pathogenic genes covering 86 diseases. RESULTS: Of the 1,012 newborns, 120 were diagnosed were diagnosed with genetic diseases Among them, 52 cases were within the scope of TBS and 68 additional cases were identified through nGS. The number of cases detected per screening mode was 50, 113, 56, and 119 for IBS, INS, SS, and CS, respectively. CS was the most satisfactory screening mode, with the detection rate of 99.17%, the specificity and positive predictive value of 100%, and the negative predictive value of 99.89%. In addition, of the 68 cases identified by nGS (96 variants in 31 pathogenic genes), only four participants (5.9%) had clinical manifestations consistent with the disease. The experimental reporting cycles of CS and INS were the shortest. CONCLUSIONS: CS was the most satisfactory method for newborn screening, which combined nGS with TBS to improve early diagnosis.

Efficient treatment of old landfill leachate by peroxodisulfate assisted electro-oxidation and electro-coagulation combined system.

Efficient removal of chemical oxygen demand (COD) and ammonium-N (NH4+-N) is the key issue for treatment of old landfill leachate. In this study, a peroxodisulfate assisted electro-oxidation and electro-coagulation coupled system (POCS) adopting Ti/SnO2-Sb2O3/TiO2 and Fe dual-anode was constructed for synergistic removal of COD and NH4+-N in old landfill leachate. Laboratory experiment results showed that with current density of 20 mA cm-2, initial pH value of 8.0 and peroxodisulfate (PDS) concentration of 60 mM, the POCS system can reach removal efficiencies of 84.2% for COD and 39.8% for NH4+-N. The POCS effectively reduced the complexity of macromolecular organics and avoided the need to add acid or base to adjust pH value. The residual NH4+-N could be effectively recovered through struvite precipitation with a 93.8% purity of the precipitate.

Prevalence of hematologic complications on extracorporeal membranous oxygenation in critically ill pediatric patients: A systematic review and meta-analysis.

OBJECTIVES: Despite advances in Extracorporeal Membranous Oxygenation (ECMO) equipment, hematologic complications remain significant in critically ill children. The aim of this study is to summarize prevalence of hematologic complications for children and neonates. METHODS: MEDLINE, PubMed and Scopus databases were searched focusing on the period from January 01, 2017 to October 01, 2022. The population included critically ill children and neonates with hematologic complications. The review included all aspects of related complications including hemorrhage, thrombosis, and hemolysis. We performed random effects meta-analyses. The primary outcome measure was overall hematologic complications. Secondary outcomes are changes in the prevalence of hemorrhagic complications. Risk of bias of included studies was assessed using the Joanna Briggs Institute checklist. RESULTS: The systematic search identified 37 studies totaling 10,659 critically ill pediatric patients receiving ECMO. The pooled prevalence of hemorrhagic complications, thrombotic complications and hemolysis among pediatric patients requiring ECMO was 43.7 % (95 % CI: 28.6 % to 58.9 %, P < 0.001), 27.6 % (95 % CI: 20.4 % to 34.8 %, P < 0.001), 34.3 % (95 % CI: 22.9 % to 45.7 %, P < 0.001). The prevalence of hemorrhagic complications was represented in descending order: surgical site (21.6 %, 95 % CI: 10.3 % to 32.9 %); cannulation site (20.6 %, 95 % CI: 11.8 % to 29.3 %); intracranial (12.2 %, 95 % CI: 9.5 % to 15.0 %); pulmonary (7.7 %, 95 % CI: 5.9 % to 9.6 %); gastrointestinal (6.0 %, 3.7 % to 8.4 %). For the assessment of thrombotic complications, thrombosis in cannulation site had a higher prevalence (28.5 %, 95 % CI: 22.1 % to 34.9 %), followed by DIC (13.5 %, 95 % CI: 8.7 % to 18.3 %) and intracranial thrombosis (4.5 %, 95 % CI: 1.4 % to 7.6 %). Predictors of increased prevalence of hemorrhagic complications included age (P = 0.017) and VV-ECMO support mode (P = 0.029). CONCLUSIONS: Among critically ill pediatric patients, there was a series of hematologic complications can occur during ECMO support. Physicians should pay special attention to the management and establish appropriate treatment programs to reduce the occurrence of hematologic complications.

Molecular detection of spotted fever group rickettsiae in hedgehogs (Erinaceus amurensis) and hedgehog-attached ticks in Xuyi County, Southeast China.

Tick-borne diseases like Rickettsia, Anaplasma and Ehrlichia are widespread infectious zoonoses that threaten the health of both humans and animals worldwide. Ticks and their hosts, such as hedgehogs, can play a crucial role in transmitting tick-borne diseases and the cycle of Rickettsia. To investigate the presence and identity of Rickettsia in hedgehogs and hedgehog-attached ticks in Xuyi County, Southeast China, 114 ticks were collected from 45 hedgehogs captured totally. Via morphological and molecular methods, all these ticks were identified as two species: Haemaphysalis flava (110/114, 96.5%) and Haemaphysalis longicornis (4/114, 3.5%). Rickettsia spp. were genotypically characterized by PCR targeting rrs, gltA, ompA, ompB, and sca4 gene fragments. The prevalence of spotted fever group rickettsiae (SFGR) infection found in hedgehogs and ticks was 17.8% (8/45) and 78.1% (89/114), respectively. Phylogenetic analyses demonstrated that those Rickettsia spp. belong to two species: Rickettsia heilongjiangensis (R. heilongjiangensis XY-1) and a potential new species, Candidatus Rickettsia xuyiensis XY-2. The present study gave the first evidence of R. heilongjiangensis and Candidatus R. xuyiensis in ticks and hedgehogs of Southeast China. Our findings suggest that hedgehogs might be involved in the natural transmission cycle of Rickettsia species.

Biogenic volatile organic compound emission patterns and secondary pollutant formation potentials of dominant greening trees in Chengdu, southwest China.

Integral to the urban ecosystem, greening trees provide many ecological benefits, but the active biogenic volatile organic compounds (BVOCs) they release contribute to the production of ozone and secondary organic aerosols, which harm ambient air quality. It is, therefore, necessary to understand the BVOC emission characteristics of dominant greening tree species and their relative contribution to secondary pollutants in various urban contexts. Consequently, this study utilized a dynamic enclosure system to collect BVOC samples of seven dominant greening tree species in urban Chengdu, Southwest China. Gas chromatography/mass spectrometry was used to analyze the BVOC components and standardized BVOC emission rates of each tree species were then calculated to assess their relative potential to form secondary pollutants. We found obvious differences in the composition of BVOCs emitted by each species. Ficus virens displayed a high isoprene emission rate at 31.472 µgC/(gdw (g dry weight)•hr), while Cinnamomum camphora emitted high volumes of D-Limonene at 93.574 µgC/(gdw•hr). In terms of the BVOC emission rates by leaf area, C. camphora had the highest emission rate of total BVOCs at 13,782.59 µgC/(m2•hr), followed by Cedrus deodara with 5466.86 µgC/(m2•hr). Ginkgo biloba and Osmanthus fragrans mainly emitted oxygenated VOCs with lower overall emission rates. The high BVOC emitters like F. virens, C. camphora, and Magnolia grandiflora have high potential for significantly contributing to environmental secondary pollutants, so should be cautiously considered for future planting. This study provides important implications for improving urban greening efforts for subtropical Chinese urban contexts, like Chengdu.

Genetic and hosts characterization of hantaviruses in port areas in Hainan Province, P. R. China.

BACKGROUND: Hantaviruses (HVs) are major zoonotic pathogens in China that cause hemorrhagic fever with renal syndrome (HFRS) posing a major threat to people's health. Hainan Province, an island located in Southeast China, is an ideal region for sea ports. The unique tropical monsoon climate in Hainan provides sufficient living conditions for rodents, which help spread HVs and other rodent-borne diseases. In the routine monitoring of hantavirus, there was no evidence that rodents in Hainan carried hantavirus. No patients infected with hantavirus were found in the past. However, the surveillance of HVs-carrying rodents covering the whole territory of Hainan has not stopped. METHODOLOGY/PRINCIPAL FINDINGS: For the monitoring of the prevalence of HVs in rodents and the search for theoretical reference for rodent control and HFRS prevention, a total of 60 rodents from 6 monitoring spots were trapped around main ports in Hainan between 2016 and 2019. HV positive samples were identified by a specific kit and sequenced. The data indicated that seven rodents (Rattus norvegicus) were positive for hantavirus with a positivity rate of 11.67%. Phylogenetic analysis suggested that the two complete sequence strains HN1 and HN4 in this research were highly similar to the sequence strains GZRn36 and GZRn148 isolated in Guangdong Province, and they located in the same phylogenetic tree branch which belongs to S2 subtype. Although the two partial sequences HT1 and HT2 isolated in Xisha Islands belong to S2 subtype according to the phylogenetic tree of L segment, they showed a great nucleotide difference with HN1 and HN4. We also found 13 amino acid variations compared with SEOV 80-39 and 6 amino acid mutations related to epitope, and the variations may reduce the effectiveness of the current HFRS vaccines used in humans. CONCLUSIONS/SIGNIFICANCE: The study indicated HVs carried by rodents found in Hainan Province may be transmitted from Guangdong Province through trading ports and carriage of goods by sea. So it is of great significance to strengthen the surveillance of rodents in port areas especially capture and eliminate rodents on ship. Timely elimination of host animals of hantavirus in port areas is necessary to prevent an outbreak of HVs disease.

Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

PURPOSE: This study aimed to explore the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in the prenatal diagnosis of fetal isolated nasal bone absence (INBA) or isolated nasal bone hypoplasia (INBH). We hope to provide additional relevant information for clinical counseling. PATIENTS AND METHODS: From November 1, 2018, to March 1, 2020, 55 pregnant women with isolated nasal bone dysplasia were admitted to the Changzhou Maternity and Child Health Care Hospital. Based on the degree of abnormality, the patients were divided into two groups: INBA and INBH. CMA was performed on all patients. The clinical data and prenatal genetic diagnoses of the two groups were retrospectively analyzed. According to the requirements of WES for samples, 12 cases with negative CMA results were selected for the WES test. RESULTS: A total of 55 cases with INBA or INBH met the inclusion criteria. In 35INBA fetuses, there was one case of trisomy 21 and one case of 10q11.22 deletion (5.7Mb), and the abnormality rate was 5.71% (2/35). Compared with INBA fetuses, the abnormality rate was increased in the fetuses with INBH [15.00% (3/20)] (15.00% vs 5.71%); there was one case of 1q21.1 duplication (1.3Mb), one case of Xp22.31 duplication (1.67Mb), and one case of 4p deletion (7.6Mb). In a later retrospective study, two pathogenic variants were identified in two cases after the WES test; the abnormality rate was 16.67% (2/12), which involved RUNX2 and CDH4 genes, respectively. CONCLUSION: A preliminary study confirmed that molecular prenatal diagnosis should be performed in fetuses with INBA or INBH. CMA followed by WES is an effective method.

The Simple Mix Design Method and Confined Behavior Analysis for Recycled Aggregate Concrete.

For the environment protection and sustainable development in building construction, waste concrete can be processed into recycled aggregate to mix the recycled aggregate concrete (RAC). However, the existing mix design methods of RAC were complex, and the mechanical properties of RAC were more weakened than ordinary concrete. This paper presents a simple mix design method for RAC, including orthogonal test and single-factor test. Then, in order to study the behavior of confined RAC, this paper presents a comprehensive experimental study on the RAC filled in steel tube (RCFST) specimens and the RAC filled in GFRP tube (RCFST) specimens. The results show that the proposed mix design method can mix different stable strength grades of RAC promptly and efficiently. In addition, the steel tube and GFRP tube can provide a well confining effect on core RAC to improve the mechanical behavior of column. Moreover, the properties of core RAC in steel tube are the same as the common passive confined concrete, and the properties of core RAC in the GFRP tube are the same as the common active confined concrete. The study results can provide reference for other kinds of RAC mixtures as well as be a foundation for theoretical studies on confined RAC.

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].

OBJECTIVE: To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome. METHODS: Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing. RESULTS: Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37): g.129376868G>T] of the LMX1B gene, which was verified by Sanger sequencing. The same heterozygous variant was found in the pregnant woman, her daughter and her mother but not in her husband. Searching of HGMD database showed that the c.139+1G>T was previously unreported. CONCLUSION: Nail-patella syndrome is an autosomal dominant genetic disorder with various clinical manifestations. WES is helpful for its genetic and prenatal diagnosis.

Epidemic Trend and Molecular Evolution of HV Family in the Main Hantavirus Epidemic Areas From 2004 to 2016, in P.R. China.

Hemorrhagic fever with renal syndrome (HFRS) is caused by hantavirus (HV) infection, and is prevalent across Europe and Asia (mainly China). The genetic variation and wide host range of the HV family may lead to vaccine failure. In this study, we analyzed the gene sequences of HV isolated from different regions of China in order to trace the molecular evolution of HV and the epidemiological trends of HFRS. A total of 16,6975 HFRS cases and 1,689 HFRS-related deaths were reported from 2004 to 2016, with the average annual incidence rate of 0.9674 per 100,000, 0.0098 per 100,000 mortality rate, and case fatality rate 0.99%. The highest number of cases were detected in 2004 (25,041), and after decreasing to the lowest numbers (8,745) in 2009, showed an incline from 2010. The incidence of HFRS is the highest in spring and winter, and three times as many men are affected as women. In addition, farmers account for the largest proportion of all cases. The main hosts of HV are Rattus norvegicus and Apodemus agrarius, and the SEOV strain is mainly found in R. norvegicus and Niviventer confucianus. Phylogenetic analysis showed that at least 10 HTNV subtypes and 6 SEOV subtypes are endemic to China. We found that the clustering pattern of M genome segments was different from that of the S segments, indicating the possibility of gene recombination across HV strains. The recent increase in the incidence of HFRS may be related to climatic factors, such as temperature, relative humidity and hours of sunshine, as well as biological factors like rodent density, virus load in rodents and genetic variation. The scope of vaccine application should be continuously expanded, and surveillance measures and prevention and control strategies should be improved to reduce HFRS infection in China.

Chrysophanol alleviates myocardial injury in diabetic db/db mice by regulating the SIRT1/HMGB1/NF-κB signaling pathway.

Myocardial injury induced by diabetes has become an increasing health problem. Chrysophanol (CHR) has been widely studied as a potential treatment for many diseases due to its anti-inflammatory effects, but has not been investigated in regard to diabetes-induced myocardial injury. The present study evaluated the myocardial protective effects of CHR in C57BL/KsJ-db/db diabetic mice. C57BL/KsJ-db/db and C57BLKS/J mice were treated with vehicle, metformin (100 mg/kg/day) or CHR (50 or 100 mg/kg/day) for 28 days. An oral glucose tolerance test was performed to detect blood glucose levels. Blood lipids, triglycerides, total cholesterol, myocardial function-associated enzymes, namely creatine kinase (CK) and lactate dehydrogenase (LDH), and insulin levels were analyzed. TNF-α, interleukin (IL)-1ß and IL-6 inflammatory cytokine levels in serum and myocardial tissues were determined by ELISA. Expression of silent information regulator l (SIRT1) and high mobility group box 1/NF-κB pathway-associated proteins in myocardial tissues were measured by western blot analysis and immunohistochemistry. CHR treatment at both concentrations markedly decreased blood lipid and serum insulin levels, and inhibited the myocardial enzymes CK and LDH. CHR also significantly ameliorated the cardiac pathological changes in diabetic mice. The inflammatory cytokine levels that were increased in C57BL/KsJ-db/db diabetic mice were downregulated by CHR treatment. CHR also increased SIRT1 protein expression and inhibited activation of the HMGB1/NF-κB pathway. In conclusion, the present study indicates that CHR effectively protected against diabetic myocardial injury via regulation of SIRT1 and the HMGB1/NF-κB signaling pathway.

Calorie restriction prevents the development of insulin resistance and impaired lipid metabolism in gestational diabetes offspring.

BACKGROUND: Gestational diabetes mellitus (GDM) has long-lasting influence on offspring, which is associated with increased risks of insulin resistance, obesity, and type II diabetes mellitus. Calorie restriction (CR) is one of the most common and available nutritional interventions to prevent obesity and diabetes. We are trying to explore the effect of CR on GDM offspring. METHODS: The streptozotocin was used to stimulate C57BL/6J mice to develop GDM, a number of metabolic characteristics and related protein expressions were determined in GDM offspring that were fed ad-libitum or treated with calorie restriction. RESULTS: CR reduced body weight and glucose levels in GDM offspring. CR modulated the lipid metabolism by decreasing triglyceride and cholesterol levels in plasma. We also found that the effect of CR on insulin sensitivity may involve in signaling pathway through the regulations of phosphatase and tensin homologue deleted on chromosome 10 (PTEN) and protein kinase B (Akt). CONCLUSION: GDM is a high risk factor for GDM offspring to develop insulin resistance, while CR could ameliorate this adverse outcome. Moreover, the specific decrease in PTEN activation and increase in Akt phosphorylation in livers of GDM offspring with CR improved insulin sensitivity and lipid metabolism.

Assessing apoptosis gene expression profiling with a PCR array in the hippocampus of Ts65Dn mice.

It is well known that Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. Intellectual disability is the foremost and most debilitating trait, which caused loss of cognitive abilities and the development of early onset Alzheimer's disease (AD). Ts65Dn mice were used in this study. We isolated the hippocampus. First, we used transmission scanning electron microscopy to directly observe the hippocampus and confirm if apoptosis had occurred. Second, we customized a PCR array with 53 genes, including several important genes related to cell apoptosis. Gene expression was detected by RT-PCR. There were varying degrees of changes characteristic of apoptosis in the hippocampus of Ts65Dn mice, which mainly included the following: nuclear membrane thinning, unevenly distributed chromosomes, the production of chromatin crescents, and pyknosis of the nuclei with some nuclear fragmentation. Meanwhile, three genes (API5, AIFM1, and NFκB1) showed changes of expression in the hippocampus of Ts65Dn mice compared with normal mice. Only NFκB1 expression was significantly increased, while the expressions of API5 and AIFM1 were notably decreased. The fold changes in the expression of API5, AIFM1, and NFκB1 were 11.55, 5.94, and 3.11, respectively. However, some well-known genes related to cell apoptosis, such as the caspase family, Bcl-2, Bad, Bid, Fas, and TNF, did not show changes in expression levels. The genes we found which were differentially expressed in the hippocampus of Ts65Dn mice may be closely related to cell apoptosis. PCR array technology can assist in the screening and identification of genes involved in apoptosis.

Whether Alzheimer's diseases related genes also differently express in the hippocampus of Ts65Dn mice?

BACKGROUND: Down syndrome is a condition which extra genetic material causes delays in child development, both mentally and physically. Strengthening the study of the neural defects of DS is of great significance. METHODS: Ts65Dn mice were used in this study. We removed the brain and isolated their hippocampus. We customized 54 genes in one PCR arrays, included some important genes related to Alzheimer's disease. The expression of genes were detected by RT-PCR. RESULTS: PCR arrays contained 54 genes related to Alzheimer's disease. After real-time PCR, three genes (Nae1, APP and Mapt) expressed differently in the hippocampus of Ts65Dn, compared with the normal mice. Nae1 was decreased significantly, while APP and Mapt were increased obviously. The levels of fold-changes of Nae1, APP and Mapt were 86.19, 4.49 and 2.89 respectively. Significantly different levels of expression were found in the Ts65Dn mice compared with the normal control group (P=0.00 for Nae1, P=0.02 for APP, P=0.01 for Mapt respectively). CONCLUSIONS: There are differential expressed genes in the hippocampus of Ts65Dn mice that may be closely related to Alzheimer's disease. PCR array technology was used in the screening and identification of these genes.

Breast-feeding and postpartum weight retention: a systematic review and meta-analysis.

OBJECTIVE: Weight gained during pregnancy and postpartum weight retention might contribute to obesity in women of childbearing age. Whether breast-feeding (BF) may decrease postpartum weight retention (PPWR) is still controversial. The purpose of our systematic review and meta-analysis was to investigate the relationship between BF and PPWR. DESIGN: Three databases were systematically reviewed and the reference lists of relevant articles were checked. Meta-analysis was performed to quantify the pooled standardized mean differences (SMD) of BF on PPWR by using a random-effect model. Heterogeneity was tested using the χ 2 test and I 2 statistics. Publication bias was estimated from Egger's test (linear regression method) or Begg's test (rank correlation method). RESULTS: Among 349 search hits, eleven studies met the inclusion criteria for the meta-analysis. Seven studies were conducted in the USA, one in Brazil, one in France, one in Georgia and one in Croatia. Compared with formula-feeding, BF for 3 to ≤6 months seemed to have a negative influence on PPWR and if BF continued for >6 months had little or no influence on PPWR. In a subgroup meta-analysis, the results did not change substantially after the analysis had been classified by available confounding factors. There was no indication of a publication bias from the result of either Egger's test or Begg's test. CONCLUSIONS: Although the available evidence held belief that BF decreases PPWR, more robust studies are needed to reliably assess the impact of patterns and duration of BF on PPWR.

Maternal mRNA expression levels of H19 are inversely associated with risk of macrosomia.

INTRODUCTION: To investigate the associations between the mRNA levels of H19 in term placenta and risk of macrosomia. MATERIAL AND METHODS: Term placentas were collected from 37 macrosomia and 37 matched neonates with normal birth weight (controls) born in Changzhou Women and Children Health Hospital, Jiangsu province, P. R. China from March 1 to June 30, 2008. The mRNA levels of H19 in those placentas were measured by real-time polymerase chain reaction (PCR). Simple and multiple logistic regression models were used to explore the risk factors in the development of macrosomia. All analyses were performed using Stata 10.0 (StataCorp, College Station, Texas, USA). RESULTS: The average H19 mRNA level of the macrosomia group was 1.450 ±0.456 while in the control group it was 2.080 ±1.296. Based on the result of Student's t test, there was a significant difference in H19 mRNA level between the macrosomia group and the control group (p = 0.008). After controlling for potential confounders, the multivariable adjusted odds ratio (OR) of macrosomia for those in the highest tertile of H19 mRNA level was 0.12 (95% CI: 0.02-0.59) when compared to those in the lowest tertile (p for linear trend = 0.009). CONCLUSIONS: The term placental H19 mRNA levels were inversely related to the occurrence of macrosomia. Our findings suggest that the low expression of H19 mRNA may contribute to the development of macrosomia.

The association between gestational weight gain and substantial weight retention 1-year postpartum.

PURPOSE: Postpartum weight retention contributes to obesity development of women in their reproductive age. The studies about the association between gestational weight gain (GWG) and substantial weight retention are lacking. This study examined the association between GWG and substantial postpartum weight retention (SPPWR). METHODS: The participants (n = 1,122) in the study were healthy, mature and fed their infants whose ages were 3, 6, 9, 12 months (2010-2012), respectively. They self-reported their socio-demographic, clinical prenatal and behaviors characteristics via questionnaires. We collected their weight data including pre-pregnancy and prior to delivery, as well as weight at 3, 6, 9, and 12 months postpartum. The major outcomes included weight retention and substantial weight gain 1 year postpartum. RESULTS: Of the 1,122 women, the median weight retention was 3.0 (IQR = 5.5) kg 12 months postpartum. 35.7 % of them reported substantial weight retention (≥4.55 kg). GWG categories were established as follows: inadequate weight gain (n = 366, 33 %), adequate weight gain (n = 596, 53 %), and excessive weight gain (n = 160, 14 %). Adjusted odds ratios of SPPWR were 0.59 (95 % CI 0.43, 0.81) for inadequate weight gain and 4.05 (95 % CI 2.75, 5.95) for excessive weight gain versus adequate weight gain (P < 0.001). CONCLUSIONS: Excessive GWG would increase the risk of substantial weight retention 1-year postpartum. The interventions to prevent postpartum obesity should consider the strategies how to attain optimal maternal GWG.

Does ceruloplasmin differential express in the brain of Ts65Dn: a mouse mode of Down syndrome?

To investigate the expression of CP in Down syndrome (DS) mouse model, we especially observed the changes in neuronal CP. We systematically analyzed the level of CP in Ts65Dn mouse, including serum CP concentration and enzymatic activity, CP mRNA in brain, the expression of CP protein in brain. The applied technologies were ELISA, chemical colorimetry, RT-PCR, immunohistochemistry. Compared with the control group, there were no differences of significance in the concentration, enzymatic activity and unit activity of serum ceruloplasmin. By RT-PCR, we also found there were no significant differences in the level of CP mRNA. The expression of CP was positive in the endochylema of neuronal cells of both the groups, and there were no significant difference between the two groups. Meanwhile, there were no differences in four regions of the brain (cerebral cortex, hippocampus, thalamus and cerebella). Although the neurotoxic effects of CP related to some neurodegenerative diseases, but whether it does so in DS remains to be determined.

[Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda].

OBJECTIVE: To analyze TRAPPC2 gene mutation in a family with X-linked spondyloepiphyseal dysplasia tarda and to provide genetic counseling and prenatal diagnosis. METHODS: All of 4 exons of the TRAPPC2 gene and their flanking sequences in the proband and her father were analyzed with polymerase chain reaction and direct DNA sequencing. Genomic DNA of the probands' fetus was extracted from amniotic fluid sampled at 18th gestational week. Gender of the fetus was determined by the presence of SRY gene. The sequence of fetal TRAPPC2 gene was also analyzed. RESULTS: A c.209G>A mutation was identified in exon 4 of the TRAPPC2 gene in the proband and her father. The fetus of was determined to be a male and also have carried the c.209G>A mutation. CONCLUSION: A c.209G>A mutation of TRAPPC2 exon 4 probably underlies the clinical manifestations in this family. The proband is a carrier, and her fetus is a male carrying the same mutation. Prenatal diagnosis is an effective method for the prevention of the disease.

Higher fetal insulin resistance in Chinese pregnant women with gestational diabetes mellitus and correlation with maternal insulin resistance.

OBJECTIVE: The aim of this study was to determine the effect of gestational diabetes mellitus (GDM) on fetal insulin resistance or ß-cell function in Chinese pregnant women with GDM. MEASUREMENTS: Maternal fasting blood and venous cord blood samples (reflecting fetal condition) were collected in 65 well-controlled Chinese GDM mothers (only given dietary intervention) and 83 control subjects. The insulin, glucose and proinsulin concentrations of both maternal and cord blood samples were measured, and the homeostasis model assessment of insulin resistance (HOMA-IR) and the proinsulin-to-insulin ratios (an indicator of fetal ß-cell function) were calculated in maternal and cord blood respectively. RESULTS: Both maternal and fetal levels of insulin, proinsulin and HOMA-IR but not proinsulin-to-insulin ratios were significantly higher in the GDM group than in the control group (maternal insulin, 24.8 vs. 15.4 µU/mL, P = 0.004, proinsulin, 23.3 vs. 16.2 pmol/L, P = 0.005, and HOMA-IR, 5.5 vs. 3.5, P = 0.041, respectively; fetal: insulin, 15.1 vs. 7.9 µU/mL, P<0.001, proinsulin, 25.8 vs. 15.1 pmol/L, P = 0.015, and HOMA-IR, 2.8 vs. 1.4, P = 0.017, respectively). Fetal HOMA-IR but not proinsulin-to-insulin ratios was significantly correlated to maternal HOMA-IR (r = 0.307, P = 0.019), in the pregnant women with GDM. CONCLUSIONS: Fetal insulin resistance was higher in Chinese pregnant women with GDM than control subjects, and correlated with maternal insulin resistance.