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To analyze the cause and pregnancy outcome for non-reportable cell-free DNA (cfDNA) results during non-invasive prenatal testing (NIPT).cfDNA was extracted from maternal plasma from 5898 singleton pregnancies at 12 to 22 gestational weeks and underwent NIPT with strict quality control standards. For those with sub-standard results, redraw or invasive prenatal procedures were recommended.Among the 5898 cases, 32 have failed for the initial NIPT, including 17 cases with substandard cffDNA%, 10 cases with data fluctuation after twice library constructing and sequencing, and 5 cases with unidentifiable sex chromosome abnormalities. For these 32 cases, 2 directly underwent amniocentesis, and karyotyping analysis showed both were normal. Six of the 30 redrawn cases finally turned out to be nonreportable. The final nonreportable rate was therefore 0.1% (8/5898). Of the redrawn cases, 1 trisomy 21, 1 trisomy 18 and 1 trisomy 13 high risk-cases were identified, which were all confirmed to be false positive. Among the 6 nonreportable cases, 2 women underwent invasive prenatal testing, and 1 was found to have a normal fetal karyotype, while another was found to have an abnormal karyotype of mos45,X[32]/46,XY[18]. The other 4 nonreportable cases who did not accept invasive prenatal testing have all reported normal child development at follow-up.The main reason for nonreportable NIPT results was low cffDNA%. The high success rate of the redrawn cases has effectively increased the overall NIPT success rate and reduced the number of the cases necessitating invasive prenatal diagnosis. The initially nonreportable women may consider retesting after careful counseling with informed consent.

This study aimed at exploring the concentration‐effect relationship of adalimumab and early adalimumab and anti‐adalimumab antibody (AAA) levels in predicting primary nonresponse in a real‐world pilot cohort of patients with ankylosing spondylitis. Thirty‐one patients were included. The Ankylosing Spondylitis Disease Activity Score improved with increasing adalimumab trough level at week 12 and reached a major improvement with levels between 8 and 12 μg/mL. Moreover, weeks 4 and 2 adalimumab levels below 4.28 and 3.37 μg/mL were predictive of primary nonresponse (area under the curve (AUC) = 0.89, 0.88; P = 0.0003, P = 0.034, respectively). Week 4 AAA signal‐to‐noise levels were significantly higher among primary nonresponders, and the cutoff for primary nonresponse prediction was above 5.31 (AUC = 0.81; P = 0.004). Adalimumab trough levels in a range of 8–12 μg/mL are optimum to reach major improvement, and lower adalimumab with higher AAA levels at the early stage (week 4) predict primary nonresponse by supporting proactive monitoring to optimize adalimumab therapy.

Background In China, aging has become a serious social problem, and the number of empty-nest elderly is on the rise. The aim of this study is to clarify the prevalence of depressive symptoms among empty-nest elderly in Shanxi province and evaluate the effects of sociodemographic factors and health-promoting lifestyles so as to provide a scientific reference for preventing and intervening their depression. Methods A cross-sectional study, which used a multi-stage random cluster sampling way, was conducted among 4901 empty-nest elderly in Shanxi. An independent t-test and a chi square test were used to compare the sociodemographic factors, depression scores, and health-promoting lifestyle scores of the empty-nest elderly. Multinomial logistic regression was used to analyze the potential influencing factors for depression. Results The prevalence of depressive symptoms in the population was 64.2%. Among all participants 1,776 (36.2%) had mild depression, 1,236 (25.2%) had moderate depression, and 135 (2.8%) had severe depression. The health-promoting lifestyle of the empty nesters in this study was at the medium level (2.51 ± 0.47). Gender, education level, old-age provision model, exercise frequency, chronic disease, relationships with children, self-care ability, and health-promoting lifestyles were found to be influencing factors of depression and all variables had different effects on different degrees of depression. Limitations This was a cross-sectional study, so the results cannot establish causal relationships among the study variables. Conclusions Depression was prevalent among the empty-nest elderly in Shanxi. Maintaining good interpersonal relationships, developing extensive interests, and maintaining healthy lifestyles including good nutrition habits and regular exercises can reduce the incidence of depression among empty nesters.

Objectives This study aimed to investigate anxiety status and its relationship with body mass index (BMI) among empty nesters in China, so as to improve their quality of life and provide direction for further research. Methods A cross-sectional survey was conducted among 4901 empty nesters in Shanxi, China. Anxiety, weight, height, depression, socio-demographic variables, attention to daily nutritional health, social activities, and self-care ability were evaluated in the study. T-tests and chi-square tests were used to compare differences in categorical and continuous variables. Binary logistic regression was performed to explore the association between anxiety and BMI among male and female empty nesters. Results The results showed that 44.5% of empty nesters reported anxiety, of which, 43.2% were male participants and 45.9% were female participants. After adjusting for other variables, overweight empty nesters odds ratio (OR; 95% confidence interval [CI]) = 0.813 (0.692-0.954) were less likely to be anxious, compared with their normal-weight counterparts. Gender was a significant factor in the relationship, with the negative association between overweight and anxiety only found in female empty nesters OR (95%CI) = 0.718 (0.572-0.901). Income, education, complete self-care ability, and depression showed significant associations with anxiety. Conclusion The prevalence of anxiety was high in the study population. Gender is a significant factor in the relationship between anxiety and BMI among empty nesters. The results intend to inform the government and media that overweight is a protective factor for anxiety among female empty nesters, necessitating a move toward eliminating weight bias.

This study aimed to investigate the factors impacting time to diagnosis in pediatric central nervous system tumors. A descriptive, cross-sectional design was used in this study. A self-developed questionnaire for health-seeking behavior and influencing factors was used in children with intracranial tumors. The factors related to time to diagnosis and the long-term prognosis of children were analyzed. A total of 433 families replied to the questionnaire. The median parental interval was 50 days (range 0 ~ 884), the median diagnostic interval was 97 days (range 4 ~ 1646), and the median prediagnostic symptomatic interval (PSI) was 123 days (range 8 ~ 1844). Higher education was associated with a shorter parental interval (mother: P = 0.048; father: P = 0.035). The diagnostic interval was shortened in patients with dizziness (P = 0.022), abnormal eye movement (P = 0.034), or drowsiness (P = 0.021). A shorter PSI was observed in patients who presented with high intracranial pressure such as headache (P = 0.016), dizziness (P = 0.009), or drowsiness (P = 0.023) and those who went to a higher-level health institution or patients who went to neurology or neurosurgery department as the first medical consultation. No statistically significant difference was found in the interval time (parental interval, diagnostic interval, and PSI) regarding patients’ outcomes. Different time intervals showed different factors influencing the long delay in diagnosing central nervous system tumors, highlighting the need for increased awareness to improve the treatment efficacy.

Background With the disintegration of the extended family in recent years, the empty-nest phenomenon is increasingly common in China and the health of empty nesters is attracting more attention. Lifestyles, accounting for 53% in determining death, play a vital role in improving the health of individuals. However, it was rarely studied in promoting the health of empty nesters. In this study, we proposed a “SMG” model in empty nesters, including the self-management, mutual management, and group management, to implement health-promoting lifestyles interventions among empty nesters to provide an effective means to improve their lifestyles and health. Methods We conducted a prospective intervention on 350 empty nesters in three communities located in Taiyuan, China. One hundred sixty-seven empty nesters were randomly assigned to the intervention group with SMG-based health-promoting lifestyles interventions used for 7-months, and 183 were randomly assigned to the control group with no measures imposed. The Health-Promoting Lifestyle Profile (HPLP-C) was used to rate the lifestyles of empty nesters. Generalized estimation model was used to analyze the differences between the intervention and control groups over time, adjusted for education and employment. Results After 7 months of health-promoting lifestyles intervention, HPLP-C score and each dimension score in the intervention group all increase from baseline. There were significant differences after intervention associated with time and group interaction effects in aspects of HPLP-C (mean score = 8.838, 95%CI:6.369–11.306), self-realization (mean score = 1.443, 95%CI:0.352–2.534), Health responsibility (mean score = 1.492, 95%CI:0.477–2.508), physical activity (mean score = 1.031, 95%CI:0.572–1.491), nutrition (mean = 0.827, 95%CI:0.177–1.476), interpersonal relations (mean = 2.917, 95%CI:2.365–3.469) and stress management (mean score = 0.729, 95%CI:0.131–1.327). And education is contributing to the effect of the health-promoting lifestyle intervention (Estimate:8.833, p Conclusions SMG-based health-promoting lifestyles intervention in empty nesters effectively improved the lifestyles of empty nesters, and the outcome was affected by education. Lifestyle change requires ongoing intervention, and community service centres must be involved in implementing the “SMG” model to provide ongoing support and improve the effect of interventions among empty nesters. Trial registration Chinese Clinical Trial ChiCTR1800015884. Registration date: 26–04-2018. Retrospectively registered.

Background China has the world’s largest size of elderly population. Mental disorders of the elders deserve keen attention. This study aims to comparatively explore mental disorders and risk factors among empty and non-empty nesters. Methods Using the stratified random cluster sampling method, we recruited 8526 elders aged 60 years and above from 11 cities in Shanxi Province in central China, comprising 4901 empty and 3625 non-empty nesters. The mental disorders were assessed with the 12-item Chinese Health Questionnaire (CHQ-12). The binary logistic regression was performed to analyze the risk factors in the two groups. Results The prevalence of mental disorders in empty nesters was significantly higher than that in non-empty ones (26.9% vs 23.5%). Binary logistic regression showed that the empty nesters who lived alone or lived in an institution were more likely to suffer from mental disorders compared with the non-empty ones, empty nesters living with spouse showed no significant deviation. And single status, hardly or part self-care ability, having chronic diseases, having lower income, and paying less attention to daily healthy diet had positive associations with mental disorders for empty nesters, and no or partial self-care ability and having chronic diseases for non-empty nesters. Conclusions The study indicated that empty nesters had a higher prevalence of mental disorders than non-empty ones. Empty nesters living alone, with no or partial self-care ability, chronic disease, lower income and less attention to daily healthy diet were more vulnerable to mental disorders. And the lack of self-care ability and having chronic diseases were risk factors of mental disorders for non-empty nesters.

Background China has the world’s largest elderly population and an increasing number of empty-nest elderly. The purpose of this study is to evaluate the effectiveness of the Self-Mutual-Group model on social support of the empty-nest elderly, thus providing reference for improving their quality of life. Methods A intervention study was conducted between October 2016 and May 2017 at six communities in Taiyuan, Shanxi Province, China. A total of 350 empty-nest elderly aged 60–88 years were randomly assigned in the intervention group (n = 167) with a 7-month SMG-based intervention or to a control group (n = 183) with no intervention. The social support of the participating elderly (n = 350) was assessed by the Social Support Rating Scale (SSRS) at the baseline and 7 months later, respectively. Results A 7-month follow-up showed an increasing mean scores of SSRS, objective support, subjective support and support utilization of the intervention group, and reached statistical significance (P < 0.05). Conclusions The Self-Mutual-Group model was considered to be a positive intervention and was effective in increasing social support among the empty-nest elderly. Furthermore, future research should extend the intervention period and introduce multi-point measurement to better evaluate the intervention process and outcomes. Trial registration Study on the ‘SMG’ Health Management Model Based on Community Organization Theory among empty-nest elderly (ChiCTR1800015884).

Background In China, the problems of population aging and empty nesting have become important issues which will affect the social stability and economic development. The aim of this study was to explore the health promoting lifestyles and influencing factors among empty nesters and compare with non-empty nesters to find out their differences, so as to provide a scientific evidence for people to formulate health management strategies for elderly. Methods A cross-sectional survey which used a stratified random cluster sampling method, was conducted among 500 elders in six districts of Taiyuan, China, there were 288 empty nesters and 212 non-empty nesters. The general information and health- promoting lifestyles were investigated by using the self-made General Information Questionnaire and Health Promoting Lifestyle Scale(HPLP). Two-sample t-test and Chi-square test were used to compare the sociodemographic factors, HPLP scores of empty nesters to non-empty nesters; Multiple stepwise linear regression was performed to estimate influencing factors related to the HPLP of empty nesters and non-empty nesters. Results The current findings showed that there were differences between the empty nesters and non-empty nesters in gender, resident, marital status, education and income, self-care ability, source of income, relationship with spouse and social activities (P

Review question: The review question is: what is the best available evidence on the effectiveness of acupuncture as an adjunct treatment for women with postnatal depression?

To carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.Amniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.Abnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.CMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.

High prevalence of vitamin D deficiency has been reported worldwide. Residents of Taiyuan, China, were predicted to be at high risk of vitamin D deficiency due to its high latitude, heavy air pollution, and cultural sun avoidance. This study investigated the vitamin D status of office workers, and explored the potential determinants of capillary 25-hydroxyvitamin D (25(OH)D) concentration as well as the relationship between 25(OH)D and metabolic syndrome. Two hundred participants, aged 20 to 80 years, were recruited. Capillary dried blood spot (DBS) 25(OH)D was measured; together with anthropometric (height, weight, and waist circumference), biochemical (serum lipid profile and fasting glucose) measures and a lifestyle questionnaire. Thirty-four percent of participants had 25(OH)D concentrations below 30 nmol/L, indicating deficient vitamin D status. Women’s 25(OH)D (median; 32.7 nmol/L (upper and lower quartile; 25.8, 43.8)) was significantly lower than men (44.0 nmol/L (32.3, 55.4)) (p < 0.01). Female gender, higher fasting glucose, and increased smoking (p < 0.05) were negatively associated with 25(OH)D concentration. However, there was no association found between metabolic syndrome (MetS) and 25(OH)D concentration and no significant difference in vitamin D status between men or women with MetS compared to healthy individuals. Vitamin D deficiency was common in urban residents of Taiyuan in winter and more so in women than men.

To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother.Congenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect.Prenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.

To explore the genetic cause for a fetus with structural anomaly, and to correlate the phenotype with the genotype.Amniotic fluid was obtained following the revelation of structural anomaly by ultrasonography. Cell culture and direct DNA extraction were performed in parallel. G-banded karyotyping analysis and chromosome microarray analysis (CMA) were subsequently carried out.G-banded karyotyping has suggested the fetus to be a normal male. However, CMA analysis has revealed the presence of a mosaic 3.24 Mb duplication of 1p36.33p36.32 (24%) and uniparental disomy (UPD) of chromosome 6. The genetic diagnosis for the fetus was therefore 46,XY, arr 1p36.33 p36.32(849,466-4,090,472)×2-3, (6)×2 hmz. The anomaly can probably explain the ultrasound findings in the fetus.Compared with conventional cytogenetic methods, CMA has greater resolution and throughput, and can serve as a more efficient platform for the detection of chromosomal microdeletion, microduplication, loss of heterozygosity and UPD.

OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and the fetus. RESULTS Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient's phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. CONCLUSION The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.

The 22q11.2 deletion syndrome is the most common microdeletion syndrome mainly characterized by hemizygous deletions and congenital heart defect (CHD). By using polymerase chain reaction (PCR), genotyping of short tandem repeat polymorphic (STRP) markers is a common and powerful means of detecting microdeletion. We have developed five new tetranucleotide repeat markers, 22D_4_1, 22D_4_2, 22D_4_3, 22D_4_4 and D22S873 in the proximal region of 22q11.2 deletion. To ascertain whether these markers could be used reliably in genotyping, we performed genotyping analysis on 200 unrelated individuals from a Chinese Han population and 67 CHD patients and their unaffected parents. Population data showed that the five markers met Hardy-Weinberg expectations and were highly polymorphic. By using the five markers, six of 67 CHD patients were determined to have a deletion within chromosome 22q11.2. Compared with dinucleotide markers, tetranucleotide markers produce weaker stutter bands and have no artificial multiband patterns. PCR amplification results from the five new tetranucleotide STRP markers were unambiguous and easier to interpret in genotyping. This study demonstrated that the five markers were efficient and reliable suggesting that genotyping using tetranucleotide STRP markers is an alterative approach to detect the deletion on chromosome 22q11.2 in clinical diagnosis and for genetic consultation.