Biomarkers and Genetics in Marfan Syndrome

Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder, associated with sudden death of affected individuals due to dissection of a thoracic aortic aneurysm (TAA). The detailed pathogenesis remains uncertain, but all patients have a mutation in the fibrillin 1 gene, which appears to be associated with excessive TGF-beta signalling. Diagnosis of people at risk of dissection is critical but difficult; therefore, there is a need for improved diagnostic accuracy, better risk-stratification and more effective therapeutic intervention for individuals and their families. Our aim was to discover potential circulating biomarkers of disease. Matrix metalloprotease (MMP)-3 has been implicated in TAA formation. We have shown that the levels of circulating MMP-3 are significantly higher in both control and MFS males compared to females. Paradoxically, MMP-3 levels fall in MFS patients, presumably as a compensatory mechanism to limit pathological extra-cellular matrix remodelling. We observed no difference in the level of circulating TGF-beta1 in MFS patients compared to controls. However, a consistent, small, non-significant trend towards higher levels was observed across all MFS patient groups. Although no significant differences were seen between MFS patients and controls for the circulating biomarkers MMP-2, MMP-9, TIMP-1 and TIMP-2, a consistent trend was observed for several biomarkers towards higher levels in the MFS patients group. Specifically, MMP-2 levels (overall trend, plus weakly significant difference in female surgical MFS patients) and TIMP-2 (weakly significant difference) support the possibility that these two biomarkers may be slightly elevated in MFS compared to controls. The ACE insertion/deletion (I/D) polymorphism DD genotype has been associated with cardiovascular disease severity, thus we hypothesised the D allele would be over-represented in MFS patients. We found no difference in the allelic or genotypic frequency of the ACE I/D polymorphism in MFS patients compared to controls and no differences were observed when MFS patients were stratified by severity

Religiosity and Chinese immigrants\u27 marriage

The existing literature on religion and family indicates that religious beliefs and practices are correlated with various aspects of marriage and family life. Chinese immigrants are an important part of the U.S. population. However, very little is known about the relationship between religion and marriage for Chinese immigrants. The purpose of the study is to examine the relationship between Christianity and marriage in Chinese immigrant families based on in-depth qualitative interviews. Sixteen highly religious Chinese Christian couples were interviewed to examine how religious faith influenced their perceptions of marriage and family life. Most of the participants in this study held advanced graduate degrees. Their ages ranged from 28-66, and the number of children ranged from one to four. Grounded theory methods (including open coding and axial coding) were applied to analyze the data. Based on my interview data, five central, emergent themes were indentified: 1) Moving from atheism to theism: “God is love;” 2) Changing perceptions of marriage: “Marriage is established by God;” 3) The importance of shared faith: “Equally yoked;” 4) Challenges with religious faith; and 5) A new priority: “Put God first.” Supporting qualitative data was presented in connection with each of these five themes. Implications for research and practice related to Chinese immigrants’ marriage and family in the U.S. are discussed

Faith is Life : a qualitative study of christian faith and Chinese immigrant families

Research on religion and family in the United States has increased in the last two decades. With the increasing immigrant population, studies on minorities including Chinese immigrant families are also important. Religious faith has significant influences on some Chinese immigrant families. The purpose of the study is to examine the relationship between Christianity and Chinese immigrant families. Qualitative in-depth interviews were conducted with twenty-two highly religious Chinese Christian couples in the Southern United States. Twenty-two open-ended questions were asked to understand their conversion processes and how the Christian faith influenced the participants’ marriage and family life. Most of the participants held advanced graduate degrees. Their ages ranged from 28 to 66, and the number of children ranged from one to four. Grounded theory methods including open coding and axial coding were applied to analyze the data. Three major themes emerged and were identified in the interview data: 1) Conversion to Christianity, 2) Faith practice: to learn and to change, and 3) Faith and parenting. Several subthemes are also addressed, and supporting qualitative data is presented in connection with each theme. Implications for theory, practice, and research related to Chinese immigrant families in the United States are discussed

Ventricular‐Vascular Coupling in Marfan and Non‐Marfan Aortopathies

Background: Marfan syndrome (MFS) and familial non–syndromal thoracic aortic aneurysm and dissection (ns‐TAAD) are genetic aortopathies causing aortic dilatation with increased aortic stiffness. Left ventricular (LV) contractility and ventricular‐vascular coupling index (VVI) were compared between MFS and ns‐TAAD and determinants of VVI were investigated. Methods and Results: Patients with MFS (M 57, F 47) and ns‐TAAD (M 72, F 39) were studied by echocardiography and compared with controls (M 77, F 71). Aortic geometry, hemodynamics, LV work, LV contractility (end‐systolic elastance [Ees]), and VVI were documented. Aortic sinuses were equally dilated in MFS (19.7±2.4) and ns‐TAAD (19.8±1.8) compared to controls (16.2±1.4 mm·m−2, P<0.001). Aortic stiffness index was increased in MFS (9.7±5.1) and ns‐TAAD (10.8±4.7) versus controls (5.4±2.0, P<0.01); LV stroke work was unchanged in MFS (436±74) compared to controls (435±60) but increased in ns‐TAAD (492±109 mJ·m−2 P<0.01). The LV Ees was reduced in MFS (1.32±0.19) compared to controls (1.65±0.29 mm Hg·mL−1, P<0.01) but increased in ns‐TAAD (1.83±0.30, P<0.01) and VVI was abnormal in MFS (0.71±0.11) compared to controls (0.62±0.07, P<0.01) and ns‐TAAD (0.62±0.09). Treatment with β‐blockers was associated with partial normalization of VVI in MFS. A VVI ≥0.8 was associated with increased risk of death and heart failure in MFS. Conclusions: Left ventricular contractility and ventricular‐vascular coupling are abnormal in MFS but preserved in ns‐TAAD, and are independent of aortic stiffness, consistent with intrinsic impairment of myocardial contractility in MFS

Positive spiritual climate supports transformational leadership as means to reduce nursing burnout and intent to leave

AimTo explore the relationship between spiritual climate and transformational leadership, and examine their impact on nurses perceived emotional exhaustion and intentions to quit.BackgroundTransformational leadership is known to have a significant positive effect on work environment and job satisfaction. Additionally, promoting spiritual climate amongst staff can benefit workers by increasing self‐worth. The relationship between the two is unknown.MethodsNurse clinicians from 2 sites in the Jiangsu Province of China completed self‐report questionnaires based on spiritual climate, emotional exhaustion, clinical leadership and Turnover Intention Scales. Mediation analysis was applied to evaluate impact of spiritual climate.ResultsPerceived positive spirituality amongst nurse clinicians reinforces transformational leadership to reduce emotional exhaustion (indirect effect of −0.089, p < .01). Burnout and intention to leave showed significantly positive correlation with lower levels of perceived spirituality (r = .545, p < .01).ConclusionTransformational leadership in the workplace can reduce nurses' burnout, and a positive spiritual climate increases meaningfulness in their work. This may help in nurse retention.Implications for Nursing ManagementHealth care leaders must look beyond transformational leadership to maintain a positive and supportive clinical climate, and this may involve acknowledgement of nurses' spiritual needs

The association between diabetes-related distress and fear of hypoglycaemia in patients with type 2 diabetes mellitus: A cross-sectional descriptive study

Aim: The study aimed to explore the association between diabetes-related distress as a dependent variable and fear of hypoglycaemia as a independent variable in Chinese individuals with type 2 diabetes, which can provide a basis for the development of effective nursing interventions. Design: A cross-sectional descriptive study. Methods: Pre-piloted scales were used to determine whether they experienced fear of hypoglycaemia and whether this impacted upon their management of the disease. From June–October 2019, participants were asked to complete the “hypoglycaemia fear survey” and “diabetes distress scales” to assess levels of fear and distress. Stepwise multivariate regression analysis was applied to reveal relationship between distress as a dependent variable and fear as a independent variable. Covariates included demographic, clinical or lifestyle factors. Results: A total of 258 participants were recruited for the survey, and they were characterized by little or no distress (39.53%), moderate distress (45.35%) and high distress (15.12%). The prevalence of moderate to severe distress in patients was 60.47%. Increased diabetes-related distress was strongly correlated with increased fear of hypoglycaemia and closely associated with the scores of the worry and behaviour subscales. These results indicated that 62.3% of diabetes-related distress may be explained by fear of hypoglycaemia. Conclusion: Increased diabetes-related distress is associated with increased fear of hypoglycaemia in individuals with type 2 diabetes

Bioinformatic and systems biology approach revealing the shared genes and molecular mechanisms between COVID-19 and non-alcoholic hepatitis

Introduction: Coronavirus disease 2019 (COVID-19) has become a global pandemic and poses a serious threat to human health. Many studies have shown that pre-existing nonalcoholic steatohepatitis (NASH) can worsen the clinical symptoms in patients suffering from COVID-19. However, the potential molecular mechanisms between NASH and COVID-19 remain unclear. To this end, key molecules and pathways between COVID-19 and NASH were herein explored by bioinformatic analysis.Methods: The common differentially expressed genes (DEGs) between NASH and COVID-19 were obtained by differential gene analysis. Enrichment analysis and protein-protein interaction (PPI) network analysis were carried out using the obtained common DEGs. The key modules and hub genes in PPI network were obtained by using the plug-in of Cytoscape software. Subsequently, the hub genes were verified using datasets of NASH (GSE180882) and COVID-19 (GSE150316), and further evaluated by principal component analysis (PCA) and receiver operating characteristic (ROC). Finally, the verified hub genes were analyzed by single-sample gene set enrichment analysis (ssGSEA) and NetworkAnalyst was used for the analysis of transcription factor (TF)-gene interactions, TF-microRNAs (miRNA) coregulatory network, and Protein-chemical Interactions.Results: A total of 120 DEGs between NASH and COVID-19 datasets were obtained, and the PPI network was constructed. Two key modules were obtained via the PPI network, and enrichment analysis of the key modules revealed the common association between NASH and COVID-19. In total, 16 hub genes were obtained by five algorithms, and six of them, namely, Kruppel-like factor 6 (KLF6), early growth response 1 (EGR1), growth arrest and DNA-damage-inducible 45 beta (GADD45B), JUNB, FOS, and FOS-like antigen 1 (FOSL1) were confirmed to be closely related to NASH and COVID-19. Finally, the relationship between hub genes and related pathways was analyzed, and the interaction network of six hub genes was constructed with TFs, miRNAs, and compounds.Conclusion: This study identified six hub genes related to COVID-19 and NASH, providing a new perspective for disease diagnosis and drug development

Experimental study on friction pressure drop and circumferential heat transfer characteristics in helical tubes

Helical tubes are widely used in nuclear plants, heat recovery process, and refrigeration technology. The fluid is influenced by centrifugal force flow through the helical tube, accompanied by secondary flow which is conducive to the enhancement of heat transfer. However, the uneven circumferential heat transfer caused by the secondary flow was seldom reported, while the pressure drops and heat transfer characteristics of helical tubes under single-phase and two-phase flow conditions need to be supplemented. This paper investigated the friction pressure drop and circumferential heat transfer characteristics based on the experiments on helical tubes with the coil diameter to the tube diameter varying from 28.5 to 128.5 and lift angle varying from 3° to 10°. The results showed that the coil diameter was the key parameter affecting the pressure drop and non-uniform circumferential heat transfer, compared with the lift angle. At the same cross section, the heat transfer coefficient at the outside tube wall was the highest, which was more obvious under small coil diameter conditions. Correlations of flow resistance and heat transfer were proposed for the single-phase and saturated boiling two-phase flow, respectively, and the predicted values were improved compared with the prediction results of correlations in the existing literature

Non-Invasive Chromosome Screening for Embryo Preimplantation Using Cell-Free DNA

Preimplantation genetic testing (PGT) is widely adopted to select embryos with normal ploidy but requires invasive embryo biopsy procedures. Therefore, non-invasive PGT (niPGT) detection of cell-free DNA (cfDNA) in blastocyst culture medium has gradually become a hot area in the field of assisted reproduction. This chapter will systematically summarize how researchers use embryonic cfDNA to conduct niPGT detection worldwide. It will also thoroughly review the factors that affect the accuracy of the test and its underlying issues, as well as prospective applications. We hope to provide a useful reference for the standardized operation of non-invasive PGT that can be widely applied in clinical practice