scholarly journals CHDbase: A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations

2022 ◽  
Author(s):  
Wei-Zhen Zhou ◽  
Wenke Li ◽  
Huayan Shen ◽  
Ruby W. Wang ◽  
Wen Chen ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
Interaction Network ◽  
Gene Interaction ◽  
Gene Interaction Network ◽  
Phenotype Classification ◽  
Wide Range ◽  
Genetic Landscape

Congenital heart disease (CHD) is the most common cause of major birth defects, with a prevalence of 1%. Although an increasing number of studies reporting the etiology of CHD, the findings scattered throughout the literature are difficult to retrieve and utilize in research and clinical practice. We therefore developed CHDbase, an evidence-based knowledgebase with CHD-related genes and clinical manifestations manually curated from 1114 publications, linking 1124 susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes. Metadata such as the information of each publication and the selected population and samples, the strategy of studies, and the major findings of study were integrated with each item of research record. We also integrated functional annotations through parsing ~50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity. We further prioritized the significance of these CHD-related genes with a gene interaction network approach, and extracted a core CHD sub-network with 163 genes. The clear genetic landscape of CHD enables the phenotype classification based on the shared genetic origin. Overall, CHDbase provides a comprehensive and freely available resource to study CHD susceptibility, supporting a wide range of users in the scientific and medical communities. CHDbase is accessible at http://chddb.fwgenetics.org/.

scholarly journals Environmental Risk Factors and Congenital Heart Disease: An Umbrella Review of 165 Systematic Reviews and Meta-Analyses With More Than 120 Million Participants

2021 ◽  
Vol 8 ◽  
Author(s):  
Tie-Ning Zhang ◽  
Qi-Jun Wu ◽  
Ya-Shu Liu ◽  
Jia-Le Lv ◽  
Hui Sun ◽  
...  
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Environmental Factors ◽  
Congenital Heart ◽  
Prediction Intervals ◽  
Umbrella Review ◽  
Wide Range ◽  
Null Value ◽  
Meta Analyses

Background: The etiology of congenital heart disease (CHD) has been extensively studied in the past decades. Therefore, it is critical to clarify clear hierarchies of evidence between types of environmental factors and CHD.Methods: Electronic searches in PubMed, Embase, Web of Science, Cochrane database were conducted from inception to April 20, 2020 for meta-analyses investigating the aforementioned topic.Results: Overall, 41 studies including a total of 165 meta-analyses of different environmental factors and CHD were examined, covering a wide range of risk factors. The summary random effects estimates were significant at P < 0.05 in 63 meta-analyses (38%), and 15 associations (9%) were significant at P < 10−6. Of these meta-analyses, eventually one risk factor (severe obesity; relative risk: 1.38, 95% confidence interval: 1.30–1.47) had significant summary associations at P < 10−6, included more than 1,000 cases, had 95% prediction intervals excluding the null value, and were not suggestive of large heterogeneity (I2 < 50%), small-study effects (P-value for Egger's test > 0.10), or excess significance (P > 0.10). Eight associations (5%) (including maternal lithium exposure, maternal obesity, maternal alcohol consumption, and maternal fever) had results that were significant at P < 10−6, included more than 1,000 cases, and had 95% prediction intervals excluding the null value (highly suggestive).Conclusion: This umbrella review shows that many environmental factors have substantial evidence in relation to the risk of developing CHD. More and better-designed studies are needed to establish robust evidence between environmental factors and CHD.Systematic Review Registration: [PROSPERO], identifier [CRD42020193381].

scholarly journals Community Detection in Large-Scale Bipartite Biological Networks

2021 ◽  
Vol 12 ◽  
Author(s):  
Genís Calderer ◽  
Marieke L. Kuijjer
Keyword(s):  
Biological Networks ◽  
Large Scale ◽  
Interaction Network ◽  
Gene Interaction ◽  
Community Structures ◽  
Gene Interaction Network ◽  
Structure Detection ◽  
Wide Range ◽  
Disease Associations ◽  
Or Gene

Networks are useful tools to represent and analyze interactions on a large, or genome-wide scale and have therefore been widely used in biology. Many biological networks—such as those that represent regulatory interactions, drug-gene, or gene-disease associations—are of a bipartite nature, meaning they consist of two different types of nodes, with connections only forming between the different node sets. Analysis of such networks requires methodologies that are specifically designed to handle their bipartite nature. Community structure detection is a method used to identify clusters of nodes in a network. This approach is especially helpful in large-scale biological network analysis, as it can find structure in networks that often resemble a “hairball” of interactions in visualizations. Often, the communities identified in biological networks are enriched for specific biological processes and thus allow one to assign drugs, regulatory molecules, or diseases to such processes. In addition, comparison of community structures between different biological conditions can help to identify how network rewiring may lead to tissue development or disease, for example. In this mini review, we give a theoretical basis of different methods that can be applied to detect communities in bipartite biological networks. We introduce and discuss different scores that can be used to assess the quality of these community structures. We then apply a wide range of methods to a drug-gene interaction network to highlight the strengths and weaknesses of these methods in their application to large-scale, bipartite biological networks.

scholarly journals FISH spots microdeletion in heart defects

2009 ◽  
Vol 15 (S3) ◽  
pp. 5-6
Author(s):  
P. Ferraz-Gameiro ◽  
J. Ferrão ◽  
C. Mendes ◽  
L. M. Pires ◽  
E. Matoso ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Autosomal Dominant Trait ◽  
Conotruncal Malformations ◽  
Wide Range ◽  
22Q11.2 Microdeletion ◽  
Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

scholarly journals Factors Associated with Severe Lower Respiratory Tract Infection from Respiratory Syncytial Virus (RSV) in Thai Children

2021 ◽  
Vol 73 (12) ◽  
pp. 808-814
Author(s):  
Atipotsawee Tungsupreechameth ◽  
Klaita Srisingh
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Hospital Stay ◽  
Logistic Model ◽  
Congenital Heart ◽  
Clinical Manifestations ◽  
Factors Associated ◽  
Duration Of Hospital Stay ◽  
Significant Difference ◽  
Syncytial Virus

Objective: To determine the factors associated with severe ALRTI from RSV in children.Materials and Methods: A retrospective study of children aged 1-60 months were conducted from 2014 to 2018. Out of 269 patients diagnosed with RSV ALRTI, 100 children were enrolled in the study, 20 had severe RSV ALRTI, while 80 had non-severe RSV ALRTI as identified by the ReSVinet scale. A multivariable logistic model was conducted to select significant variables.Results: During the study period, 269 patients were diagnosed with RSV ALRTI. Mean age was 10.45 ± 3.53 months. Clinical manifestations of severe RSV ALRTI group had significant difference in abnormal general condition (P < 0.001), tachypnea (P < 0.001), SpO2 < 85% (P < 0.001), poor air entry in lungs (P < 0.001), and retraction (P < 0.001). The factors associated with severe RSV ALRTI group, were underlying congenital heart disease [aOR32.45; 95% CI 3.38-311.87, P = 0.003] and duration of hospital stay >5 days [aOR 19.56; 95% CI 1.81-212.05, P = 0.014].Conclusion: Factors associated with severe RSV ALRTI in children were underlying congenital heart disease andduration of hospital stay >5 days.

The Adaptation of Parents to the Birth of an Infant With a Congenital Malformation: A Hypothetical Model

PEDIATRICS ◽  
1975 ◽  
Vol 56 (5) ◽  
pp. 710-717 ◽  
Author(s):  
Dennis Drotar ◽  
Ann Baskiewicz ◽  
Nancy Irvin ◽  
John Kennell ◽  
Marshall Klaus
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Cleft Palate ◽  
Congenital Malformation ◽  
Parental Attachment ◽  
Congenital Heart ◽  
Structured Interviews ◽  
Hypothetical Model ◽  
Parental Reactions ◽  
Wide Range

To determine the course of parental reactions to the birth of a child with a congenital malformation and the process of parental attachment, the parents of 20 children with a wide range of malformations including mongolism, congenital heart disease, and cleft palate were interviewed. Structured interviews took place 7 days to 60 months after birth. Despite the wide variation of malformation, analysis of the interviews demonstrated five stages of parental reactions—shock, denial, sadness and anger, adaptation, and reorganization—in dealing with a congenitally malformed child during the course of his development and care. Observations of these patients suggest that early crisis counseling in the first months of life may be particularly crucial in parental attachment and adjustment.

The athlete with congenital heart disease

2019 ◽  
pp. 238-250
Author(s):  
Guido E. Pieles ◽  
Graham Stuart
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Assessment Tools ◽  
Recommended Care ◽  
Specific Advice ◽  
Number Of Patients ◽  
Wide Range ◽  
Functional Exercise ◽  
Sports And Exercise

An increasing number of patients with congenital heart disease (CHD) are participating in regular sport at levels ranging from gentle recreational activities to elite professional sport. In general, children and adults with CHD should be encouraged to engage in regular physical activity, but long-term complications, such as heart failure, arrhythmias, and the need for re-operation, can occur. The sports cardiologist must be alert to the presence of underlying CHD, as physiology, haemodynamics, and functional status can change with time even after correction or palliation and intervention may be necessary before the onset of major symptoms. Although consensus management guidelines for adults with CHD are available, there is very little lesion-specific advice on sports and exercise. The wide range of diagnoses and pathophysiology make regular and individualized assessment essential. Assessment tools include ECG, echocardiogram, and CMR, but regular comprehensive functional exercise assessment is recommended. Care of the athlete with CHD should be coordinated in close collaboration with congenital heart specialists.

Congenital heart disease and inherited cardiac conditions

2020 ◽  
pp. 309-332
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Smooth Transition ◽  
Cardiac Structure ◽  
Inherited Disorders ◽  
Adult Services ◽  
Wide Range ◽  
Inherited Cardiac Conditions ◽  
First Time

‘Congenital heart disease’ is a term used to cover a wide range of cardiac conditions that result from an abnormality of cardiac structure or function present at birth. The majority of children with congenital heart disease are managed in specialist paediatric centres. Not all will require further treatment as they grow older, but if they do the importance of a smooth transition to adult services is important. Some patients will be cared for in specialist units that cater for adults with congenital heart disease (ACHD), whereas others may not. Most cardiac nurses working in the cardiac arena can be expected to care for adult patients with congenital heart disease at some time in their career. They might also care for patients who present for the first time in adulthood with inherited disorders that have significant cardiovascular problems. The focus of this chapter is to highlight some of the issues that ACHD patients might present with in cardiac areas that do not specialize in ACHD.

Congenital heart disease and inherited cardiac disorders

2014 ◽  
pp. 273-290
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Structure ◽  
Inherited Disorders ◽  
Wide Range ◽  
Cardiac Disorders ◽  
First Time

‘Congenital heart disease’ is a term used to cover a wide range of cardiac conditions that result from an abnormality of cardiac structure or function present at birth. Most conditions are a result of the heart, its valves, or its vessels not being properly formed. Some congenital heart defects are diagnosed in utero or soon after birth, whereas others might not be noted until later in life when symptoms become troublesome. Defects can be simple (requiring little or no intervention), moderate (requiring episodic intervention), or complex (with serious outcomes that require lifelong treatment and follow-up). The majority of children with congenital heart disease are managed in specialist paediatric centres, and as more children with congenital heart disease survive into adulthood, services that cater for adults with congenital heart disease (ACHD) have been developed. Most cardiac nurses working in the cardiac arena can be expected to care for adult patients with congenital heart disease at some time in their career. They might also care for patients who present for the first time in adulthood with inherited disorders that have significant cardiovascular problems. The focus of this chapter is to highlight some of the issues that ACHD patients might present with in cardiac areas that do not specialize in ACHD

scholarly journals Patient-specific simulations for planning treatment in congenital heart disease

2017 ◽  
Vol 8 (1) ◽  
pp. 20170021 ◽  
Author(s):  
Claudio Capelli ◽  
Emilie Sauvage ◽  
Giuliano Giusti ◽  
Giorgia M. Bosi ◽  
Hopewell Ntsinjana ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Computational Models ◽  
Single Case ◽  
Fluid Dynamic ◽  
Case Reports ◽  
Clinical Decision ◽  
Patient Specific ◽  
Wide Range

Patient-specific computational models have been extensively developed over the last decades and applied to investigate a wide range of cardiovascular problems. However, translation of these technologies into clinical applications, such as planning of medical procedures, has been limited to a few single case reports. Hence, the use of patient-specific models is still far from becoming a standard of care in clinical practice. The aim of this study is to describe our experience with a modelling framework that allows patient-specific simulations to be used for prediction of clinical outcomes. A cohort of 12 patients with congenital heart disease who were referred for percutaneous pulmonary valve implantation, stenting of aortic coarctation and surgical repair of double-outlet right ventricle was included in this study. Image data routinely acquired for clinical assessment were post-processed to set up patient-specific models and test device implantation and surgery. Finite-element and computational fluid dynamics analyses were run to assess feasibility of each intervention and provide some guidance. Results showed good agreement between simulations and clinical decision including feasibility, device choice and fluid-dynamic parameters. The promising results of this pilot study support translation of computer simulations as tools for personalization of cardiovascular treatments.

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