[Effects of different accompanying symptoms of obstructive sleep apnea on the risk of cardiovascular and cerebrovascular and diabetes events].

Objective: To investigate the effects of different accompanying symptoms on the risk of cardiovascular and cerebrovascular and diabetes events in patients with obstructive sleep apnea (OSA). Methods: Patients diagnosed with OSA in the sleep center of Tangdu Hospital from January 4, 2011 to December 28, 2016 were retrospectively collected and divided into four groups according to accompanying symptoms: group A included OSA patients without insomnia and excessive daytime sleepiness (EDS), group B included OSA patients with insomnia, group C included OSA patients with EDS and group D included OSA patients with insomnia and EDS. Patients were followed up by telephone for 6 to 11 years. Outcome measures were composite cardiovascular and cerebrovascular and diabetes events (including new onset or recurrent heart disease, cerebral infarction, cerebral hemorrhage, newly diagnosed hypertension and diabetes). Kaplan-Meier method was used to draw survival curves, log-rank test was performed to compare the prognosis of OSA patients with insomnia and/or EDS symptoms, and multivariate Cox proportional hazards model was constructed to analyze the influencing factors of adverse outcome events in OSA patients. Results: Five hundred and four patients with OSA were included, and 307 patients [274 males and 33 females, aged (49±11) years] completed the follow-up, including 27 patients in group A, 143 patients in group B, 27 patients in group C, and 110 patients in group D. After a median follow-up of 7.7 years, 78 patients developed cardiovascular and cerebrovascular and diabetes events. Outcome events occurred in 1 patient (3.70%) in group A, 30 (20.98%) in group B, 10 (37.04%) in group C, and 37 (33.64%) in group D. Compared with patients in group A, there was a statistically significant difference in the incidence of outcome events in groups B (P=0.034), C (P=0.004), and D (P=0.003). After adjusting for age, sex, body mass index, apnea-hypopnea index, baseline cardiovascular and cerebrovascular risk factors and subsequent continuous positive airway pressure therapy, patients in group C (HR=9.67, 95%CI: 1.23-76.37, P=0.031) and group D (HR=11.35, 95%CI: 1.55-83.43, P=0.017) had an increased risk of cardiovascular and cerebrovascular and diabetes events when compared with group A. Conclusions: In OSA patients with successful long-term follow-up, insomnia and EDS symptoms are risk factors for the development of cardiovascular and cerebrovascular and diabetes events. Insomnia and EDS symptoms should be evaluated in patients with OSA during clinical practice to find the cause and carry out the targeted intervention.

[Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings].

Objective: To investigate the value of single nucleotide polymorphism array (SNP-array) for fetuses with abnormal ultrasound findings. Method: A total of 904 fetuses with abnormal ultrasound findings were enrolled in this study from May 2015 to November 2017, and 434 (48.0%) cases received conventional karyotyping analysis at the same time. According to different abnormal ultrasound category, 904 cases were divided into 5 groups: 280 cases (31.0%) in single system structural anomalies, 31 cases (3.4%) in multiple system structural anomalies, 331 cases (36.6%) in single ultrasound soft marker abnormalities without structural anomalies, 107 cases (11.8%) in multiple soft marker abnormalities and 155 cases (17.2%) in structural abnormalities combined with soft markers abnormalities. Abnormal detection rates by SNP-array among 5 groups of abnormal ultrasound category were calculated. Result: (1) Total SNP-array results: 171 (19.0%) cases out of 904 cases analyzed by SNP-array, presented chromosomal abnormalities. Pathogenic copy number variants were detected in 27 cases (3.0%) and variants of unknown significance were detected in 81 cases (7.8%) . In addition, 7 cases (26.0%) were found with new mutation by parental validation. (2) SNP-array of 5 groups: among the 5 groups of abnormal ultrasound category, chromosomal abnormalities were identified by SNP-array in 19.3% (54/280) with single system structural abnormalities, 25.8% (8/31) with multiple system structural abnormalities, 13.9% (46/331) with single nonstructural anomalies, 19.6% (21/107) with multiple nonstructural anomalies and 27.1% (42/155) with structural abnormalities combined with nonstructural anomalies. The differences were significant (P=0.010) . No chromosome abnormalities was identified in single soft marker abnormalities, such as choroid plexus cysts, echogenic foci in the heart, single umbilical artery and pyelectasis. (3) Chromosomal abnormalities: the abnormal detection rate of aneuploidy chromosomal abnormalities by SNP-array increased with the maternal age, decreased with the gestational weeks (all P<0.05) . However, the pathogenic copy number variants and variants of unknown significance rates did not change with maternal age and gestational weeks (all P>0.05) . (4) SNP-array and karyotyping: 434 cases were analyzed by conventional karyotyping and SNP-array respectively, 10.3% (43/419) of which presented chromosomal abnormalities by conventional karyotyping and 18.7% (81/434) of which presented chromosomal abnormalities by SNP-array. Conclusions: SNP-array could be a useful genetic analysis method in prenatal diagnosis for fetuses with abnormal ultrasound findings. For different abnormal ultrasound category, SNP-array has different detection rate. Compared with conventional karyotyping analysis, SNP-array can improve the detection rates for chromosomal abnormalities and find the chromosome abnormalities which can't be detected by conventional karyotyping analysis. In clinical prenatal genetic counseling, SNP-array should be selected rationally in combination with the various abnormal ultrasound category.

[Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy].

Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies. Methods: Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1(st), 2015 to March 15(th), 2016. Among them, 5 230 (93.96%, 5 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 566) were twin pregnancies. In singleton pregnancies, 1 809 (34.59%, 1 809/5 230) were women with advanced maternal age, and 3 421 (65.41%, 3 421/5 230) were young women. The positive results of NIPS were validated by karyotyping through invasive procedures and neonatal outcomes were followed up by telephone. Results: Among the 5 566 women, 69 (1.24%, 69/5 566) got positive NIPS results, with 66 in singleton pregnancies and 3 in twin pregnancies. Two were monochorionic diamniotic twins and 1 was dichorionic twin pregnancy. The positive predictive value of NIPS for trisomy 21, 18 and 13 were 100.0%, 90.9% and 100.0%, and was 55.6% for sex chromosome aneuploidies. There was no false negative case found during the follow-up. In the advanced maternal age group and young women group, the prevalence rates of fetal chromosomal aneuploidies were 1.11%(20/1 809) and 0.94%(32/3 421), respectively. In the young women with soft markers in fetal ultrasound, the prevalence of fetal chromosomal aneuploidies was 1.44% (7/487), and in serum high risk women, it was 0.94% (7/747). In women with the serum screening risk with cut-off value, 0.89%(9/1 016) had fetal aneuploidies, and the prevalence was 0.77%(9/1 171) in volunteers. There was no statistically significant difference among these groups (P=0.636). Conclusions: There is no difference in the detection rate of fetal aneuploidies between high-risk women in serum screening and volunteers in NIPS. NIPS is more suitable as a first line screening test for women without fetal ultrasound abnormalities. It should be used carefully when there is ultrasound abnormalities.

The role of endothelin-1 in Binswanger's disease.

BACKGROUND: Endothelin-1 is known to exist in the nervous system. A notable increase of plasma endothelin-1 is associated with acute stroke. This study was designed to measure plasma endothelin-1 levels in Binswanger's disease and explore the relationship between endothelin-1 and this disorder. METHODS: Plasma levels of endothelin-1 were-examined by radioimmunoassay in 31 patients with Binswanger's disease and in three groups of control subjects. The ratio of the plasma concentration of endothelin-1 in the internal jugular vein to that in the antecubital vein was calculated as an indicator of endothelin-1 level in cerebral circulation. RESULTS: Endothelin-1 ratio devation was seen more often in patients with Binswanger's disease than in acute stroke patients. Endithelin-1 ratios were significantly negatively correlated with Hasegawa's Dementia Scale scores is subjects with Binswanger's disease. CONCLUSIONS: Abnormalities is vasoactive factors may make an important contribution to the pathophysiology of Binswanger's disease. Endothelin-1 might be involved in the pathogenesis of this illness.