Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome / 中华医学遗传学杂志

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.

Significance of pregnancy lipid reference range on the assessment of lipid of gestational diabetes / 重庆医学

Objective To assess lipid status of pregnant women with GDM based on the lipid reference intervals for pregnant women .Methods Maternal blood and venous cord blood samples were collected in 81 well-controlled GDM mothers and 86 control subjects .The total cholesterol (CHOL) ,trigalloyl glycerol (TRIG) ,high-density lipoprotein cholesterol (HDL) ,low-density lipo-protein cholesterol (LDL) ,apolipoprotein A1 (ApoA) ,apolipoprotein B (ApoB) and lipoprotein (a) levels were measured by auto-matic biochemical analyzer .We used a normal pregnancy specific lipid reference interval (PSR) and normal non-pregnant reference intervals (NPR) respectively to assess the lipid status of pregnant women with GDM .Results Compared with normal control group ,the Apo A ,HDL and LDL levels in GDM group were significantly lower (P<0 .05) .The HDL ,LDL and Lp(a) levels of GDM cord blood were significantly lower (P<0 .05) .The weight of offspring birth of GDM pregnant women with low level HDL was significantly higher (P<0 .05) ,and that of GDM pregnant women with high level LDL offspring birth weight was significantly lower (P<0 .05) .Maternal HDL was not correlated with birth weight (r= -0 .190 ,P=0 .103) .Parent LDH and birth weight was negatively correlated (r= -0 .252 ,P=0 .029) .Conclusion The reference range of normal pregnancy-specific lipid we had estab-lished is more scientific for assessment of blood lipids .

Isobaric tags for relative and absolute quantitation for preliminarily screening of differential proteins in hippocampus of Ts65Dn mice / 中华围产医学杂志

Objective To explore the molecular mechanism of hypophrenia induced by Down syndrome (DS).Methods Ts65Dn mice were used as DS animal model.Three female mice and three male mice of three to twelve weeks old were mated.Among the 17 first-generation mice alive,five mice remained Ts65Dn trisomy and 12 mice were normal.Five Ts65Dn mice and five normal mice were selected randomly as Ts65Dn group and control group,and bred till 16 to 18 weeks old for experiments.Differential proteins in hippocampus of mice were tested by isobaric tags for relative and absolute quantitation (iTRAQ).Expressions of the differential proteins in Ts65Dn group were detected compared with those in control group.Results A total of 2805 proteins were identified in hippocampus of Ts65Dn group and control group,and significant differences were observed in the expressions of 374 proteins.Compared with those in control group,expressions of 195 proteins increased and 179 reduced in Ts65Dn group.Sorted by P value from low to high,the seven proteins with the lowest P value were uncharacterized protein C2orf47 homolog,isoform 2 of filamin A-interacting protein 1-like,zinc finger protein,isoform 1 of pericentriolar material 1 protein,SEC23 interacting protein,BAG family molecular chaperone regulator 3 and serpin H1.Conclusions Differential proteins are observed in hippocampus of Ts65Dn mice,perhaps closely correlating to neurological defects.The new technology of iTRAQ helps to screen and identify differential proteins in hippocampus.

Correlation of insulin levels in diabetic mothers and fetal insulin resistance / 中华全科医师杂志

To explore the relationship between maternal insulin levels and fetal insulin resistance.Maternal blood and venous cord blood samples were collected in gestational diabetes mellitus (GDM) mothers and control subjects.The glucose and insulin levels were measured and insulin resistance levels estimated.Maternal levels of insulin and homeostasis model of assessment for insulin resistance index (HOMAIR) were significantly higher in the GDM group than those in the control group (P ＜ 0.05) ; fetal levels of insulin and HOMA-IR were significantly higher in the GDM group than in the control group (P ＜ 0.05).Maternal insulin level positively correlated with fetal insulin (r =0.326,P ＜ 0.05) and HOMA-IR levels (r =0.378,P ＜0.05).In this study,a higher level of fetal insulin resistance was reported in the GDM group.And maternal hyperinsulinemia might affect fetal insulin resistance in pregnant women with GDM.

Correlation between internal thyroid function and intrahepatic cholestasis in pregnancy / 中华全科医师杂志

A total of 166 women with intrahepatic cholestasis in pregnancy (ICP) participated in the study. Serum levels of thyroid stimulating hormone (TSH), free thyroxine 4 (FT4) and thyroid peroxidase antibody (TPOAb) were quantified for all of them with electrochemiluminescence (ECL) technique, and compared with those in normal pregnant women. Results showed that serum TSH and TPOAb [22. 9%(38/166)] increased significantly, but no significant change in serum level of FT4 was observed in women with ICP, as compared to those in normal pregnant women. Overall prevalence of thyroid diseases in ICP women was 35.5% (59/166), significantly higher than that in normal population screened for thyroid disease (17. 1%, 143/837) at the same time period. It suggests that thyroid dysfunction may be involved in pathogenesis of ICP.

Expression of ceruloplasmin in Down syndrome babies and their mothers / 中华围产医学杂志

ObjectiveTo investigate the relationship between ceruloplasmin expression and Down syndrome (DS). MethodsDifferential protein expression in serum of six mothers with DS fetuses and six mothers with healthy fetuses was detected by two-dimensional electrophoresis and matrix assisted laser desorption ionization-mass spectrum,the results were confirmed by Western blot.The levels of serum ceruloplasmin in 11 mothers with DS fetuses,10 mothers with healthy fetuses,11 DS newborns and 10 healthy babies were detected by enzyme-linked immunosorbent assay.The difference between the two groups was compared by two-independent samples t test. ResultsTwenty-nine differential proteins were found in the serum of the mothers with DS fetuses; among which ceruloplasmin increased significantly compared with that in mothers with healthy fetuese with density ratio of 5.43 (t=2.7102,P＜0.05).Western blot results showed that the expression of ceruloplasmin in maternal serum with DS fetuses (0.95 ± 0.24) was higher than that of normal mothers (0.37±0.14) (t=2.9521,P＜0.05) ; while the expression of ceruloplasmin in DS babies' serum (0.74±0.03) was lower than that of normal newborns (0.89±0.06)(t=-2.9515,P＜0.05).The expression of ceruloplasmin in serum of mothers with DS fetuses [(346.5± 111.8) ng/ml] was higher than that of normal mothers [(248.6478.3) ng/ml] (t=2.301,P＜0.05) ; while the expression of ceruloplasmin in DS babies' serum [(166.1 ±55.0) ng/ml] was lower than that of normal newborns [(244.0±36.0) ng/ml] (t=-3.873,P＜0.01). ConclusionsAbnormal maternal and neonatal serum ceruloplasmin level might relate to DS.

Correlation of parents' birth weight and fetal macrosomia / 中华全科医师杂志

To investigate relationship between birth-weight of parents and fetal macrosomia and its genetic susceptibility. A case-control study with 237 macrosomia and 257 normal birth-weight babies was conducted to retrospectively analyze their parents' birth weight and mothers' conditions during pregnancy. Multivariate non-conditional logistic regression analysis showed that risk of macrosomia increased with increase in maternal birth-weight (OR = 1. 707, 95% CI: 1. 145 - 2. 545) and paternal birth-weight (OR = 1.979, 95%CI:1.306 -2.998). Macrosomia is fetal obesity and related to multi-gene susceptibility with heritability of 74.48%. Maternal effect on macrosomia may come from her obesity gene and intrauterine condition, while paternal effect mainly exhibits by his obesity gene carriage.

Relationship between human papillomavirns and cervical carcinoma / 中华全科医师杂志

Objective To explore the relationship between high-risk human papillomavirus (HPV) DNA and biological behavior of cervical carcinoma. Methods Sixty-six patients of cervical carcinoma with cytological examinations and 103 patients of cervical carcinoma followed-up after surgical operation were selected for high-risk HPV DNA test with second-generation hybrid capture technique (HC2 Ⅱ). Results ①HPV DNA was positive in 62 and negative in four of 66 patients of cervical carcinoma with an overall prevalence of 94%. ②There was no significant difference in positive HPV DNA of patients with cervical carcinoma between their varied clinical stages and pathologic grades. But, HPV positivity and HPV DNA load in patients with myometrial invasion were higher than those in patients without invasion (P < 0. 05).③ HPV DNA conversed to negative in 99 of 103 patients (96%) with cervical carcinoma after surgical operation from positivity before operation. Conclusions High-risk HPV infection may correlate with angiogenesis, invasion and metastasis of cervical carcinoma and HC2 Ⅱ can be used as an effective method to detect HPV DNA.