Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.

BACKGROUND: Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic findings and rare autosomal aneuploidies (RAAs). We conducted a retrospective study of 48,904 cases for chromosomal microarray analysis in a large tertiary referral center and reported the overall frequencies, clinical manifestations, and outcomes of prenatal RAAs. RESULTS: A total of 90 RAAs were detected, of which 83 cases were mosaic trisomies and 7 were non-mosaic trisomies. Chromosomes 16, 22, and 9 were identified as the major chromosomes involving RAAs. The four predominant indications for prenatal diagnosis in our RAA cases were RAA-positive in noninvasive prenatal screening, advanced maternal age, ultrasound abnormalities, and high-risk for serum prenatal screening. Cardiovascular defects were the most frequently observed structural abnormalities, followed by musculoskeletal anomalies. Increased nuchal translucency and persistent left superior vena cava, the major soft marker abnormalities involved, were also observed in our RAA cases. Clinical outcomes were available for all RAAs, with 63 induced abortions and 27 live births recorded. CONCLUSIONS: Variable phenotypes and outcomes were observed, which were highly heterogeneous in cases of prenatal RAAs. Thus, a cautious and comprehensive strategy should be implemented during prenatal counseling for RAAs.

[Preimplantation Genetic Diagnosis of α/ß Complex Thalassemia by Next Generation Sequencing].

OBJECTIVE: To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/ß complex thalassemia couple. METHODS: The coding regions of α-globin genes (HBA1, HBA2) and ß-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis. RESULTS: Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/ß complex thalassemia, one was ß-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term. CONCLUSION: Preimplantation genetic diagnosis can be carried out by NGS technology in α/ß complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.

Association between Uric Acid and In-Hospital Heart Failure in Patients with Acute Myocardial Infarction Undergoing Percutaneous Coronary Intervention.

OBJECTIVE: To investigate the association of serum uric acid levels with in-hospital heart failure (HF) in patients with acute myocardial infarction (AMI) who are undergoing percutaneous coronary intervention (PCI). METHODS: Two hundred sixteen patients with AMI who were treated with PCI were enrolled in our study. Univariate and multivariate logistic regression analyses were performed to estimate the associations between uric acid levels and the risk of in-hospital HF in AMI patients. Analyses of the areas under the receiver operating characteristic (ROC) curve were performed to determine the accuracy of uric acid levels in predicting in-hospital HF. RESULTS: A dose-response relationship was found for the incidence of in-hospital HF and levels of uric acid, showing increased HF from the lowest to the highest tertile of uric acid. Compared with subjects in the bottom tertile, the adjusted odds ratio for in-hospital HF was 1.92 (95% CI 0.70-5.24) and 3.33 (95% CI 1.18-9.46) in the second tertile group and the third tertile group, respectively. Every 1 mg/dl increase in the serum uric acid level was associated with a 1.60-fold increased risk of incident in-hospital HF (OR, 1.60; 95% CI 1.22-2.11; P = 0.001). ROC curve analysis showed that the optimal cut-off value of uric acid to predict in-hospital HF was 5.75 mg/dl with a sensitivity of 69.2% and specificity of 56.3%. CONCLUSIONS: Our study showed that the serum uric acid level on admission is an independent predictor of in-hospital heart failure in patients with AMI.

Liver Enzymes and the Risk of Atrial Fibrillation: A Meta-Analysis of Prospective Cohort Studies.

Background: The association between liver enzymes and the future development of atrial fibrillation (AF) from observational studies is unclear. We, therefore, performed a meta-analysis to systematically evaluate the relationship between liver enzymes and AF risk. Methods: We searched the PubMed and Embase databases for observational cohort studies assessing the association between liver enzymes and AF risk. Pooled relative risks (RRs) with 95% confidence intervals (CIs) were calculated using a random effects model. Results: Five prospective studies with 282,615 participants and 7062 AF events were included. The pooled fully adjusted RRs (95% CIs) for AF were 1.10 (1.06-1.14) per 1-standard deviation change in log baseline level of gamma glutamyltransferase (GGT). No positive association was found between alanine aminotransferase (ALT, RR 1.04, 95% CI 0.90-1.20, p = 0.607) or aspartate aminotransferase (AST, RR 1.05, 95% CI 0.96-1.15, p = 0.268) and the risk of AF. Conclusions: The baseline GGT level is positively associated with the AF risk in a log-linear manner. We found no significant association between ALT or AST and the risk of AF. However, further well-designed prospective studies are needed to confirm these findings and elucidate the pathophysiological mechanisms.

The associations between liver enzymes and the risk of metabolic syndrome in the elderly.

BACKGROUND: Studies have demonstrated that liver enzymes are associated with metabolic syndrome (MetS). However, little information is available regarding these relationships in elderly populations. Our present study aimed to explore the associations between liver enzymes and the risk of MetS in elderly populations. METHODS: This cross-sectional study included 1444 elder participants (970 men and 474 women) who attended annual physical examinations. Univariate and multivariate logistic regressions were performed to estimate the associations between liver enzymes and the risk of MetS and its components according to quartiles of the concentration of each liver enzyme. RESULTS: The prevalence of MetS and its components increased remarkably with increasing quartiles of alanine aminotransferase (ALT), gamma-glutamyltransferase (GGT) and alkaline phosphatase (ALP) but not with aspartate aminotransferase (AST) in the elderly. Compared with subjects in the bottom quartile, the adjusted odds ratio for MetS in the highest ALT, GGT and ALP quartiles were 1.78 (95% CI 1.21-2.61), 2.58 (95% CI 1.77-3.78) and 1.85 (95%CI 1.27-2.70) respectively. No statistically significant increases in the odds ratio for MetS according to increased quartiles of AST were found in either the univariate or multivariate logistic regression analyses. CONCLUSIONS: Elevated liver enzymes levels (mainly ALT, GGT and ALP but not AST) are positively associated with the prevalence of MetS in elderly populations.

[Infection of cytomegalovirus and herpes simplex virus and morphology of the infected spermatogenic cells in infertile men].

OBJECTIVE: To study the infection of human cytomegalovirus (HCMV) and herpes simplex virus type II (HSV-I) and the morphological characteristics of the infected spermatogenic cells in the semen of infertile men. METHODS: We washed and concentrated the spermatogenic cells obtained from 83 semen samples of infertile men, extracted DNA and then screened HCMV and HSV-II by polymerase chain reaction (PCR). Immunocytochemistry (ICC) was used to detect the expression of correlative virus antigens of the positive semen cells, and the cytology smear was employed to observe the morphological changes of the spermatogenic cells under the microscope after cytology staining. RESULTS: Of all the semen samples, 8 were HCMV positive, 4 HSV-II positive, but none were both HCMV and HSV-II positive. HCMV late antigens were positively and HCMV early antigens negatively expressed in the spermatogenic cells of the 8 HCMV positive cases. In the 4 HSV-II positive cases, 3 were positively and 1 weakly positively expressed. In the semen of the 12 positive cases were found large numbers of immature spermatogenic cells, with different manifestations of apoptosis, such as chromatin pycnosis, vacuoles, damaged nuclear membrane, and apoptotic bodies, but without virus infection-induced specific morphological alteration. Sperm concentration of the positive group was significantly lower than that of the negative (P < 0. 05). CONCLUSION: Spermatogenic cells infected by HCMV and HSV-II may cause pathologic lesions and affect spermatogenesis. Morphologically, the infected spermatogenic cells may undergo some pathologic alteration, such as apoptosis. The rate of HCMV infection is higher among infertile males with pathologic cells in the semen.