Search results for " congenital"
showing 10 items of 179 documents
Self-Representation of Children Suffering from Congenital Heart Disease and Maternal Competence
2013
Background: Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. Design and Methods: The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A gr…
Relative incidence and mortality of congenital heart defects diagnosed by angiohemodynamic methods: a 17-year study.
1992
Over a 17-year period (January 1971 to January 1988), 2322 children, aged 0-14 years, were diagnosed as having congenital heart disease (CHD) by cardiac catheterization and angiography. Excluding those with highly complex or undiagnosed defects, there were 2156 children with CHD, 72.4% of whom were treated surgically, with a total surgical mortality rate of 24.1%. After a mean follow-up of 9 years the overall mortality of the cohort was 29.9%, 29.1% occurring in the first month of life, 39.6% between 1 month and 1 year, and 31.2% between 1 and 14 years. The incidence, mortality, and age at death of each cardiac defect are presented and compared with the results of other studies. The overall…
Fraser syndrome: epidemiological study in a European population
2013
Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12, 886, 464 births (minimal estimated prevalence of 0.20 per 100, 000 or 1:495, 633 births). Most cases (18/26 ; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230, 695 births, compared to the prevalence 1 in 1, 091, 175 fo…
The cost-effectiveness of neonatal versus prenatal screening for congenital toxoplasmosis
2019
BackgroundCongenital Toxoplasmosis (CT) can have severe consequences. France, Austria, and Slovenia have prenatal screening programs whereas some other countries are considering universal screening to reduce congenital transmission and severity of infection in children. The efficiency of such programs is debated increasingly as seroprevalence among pregnant women and incidence of congenital toxoplasmosis show a steady decrease. In addition, uncertainty remains regarding the effectiveness of pre- and postnatal treatments.MethodTo identify cost-effective strategies, prenatal and neonatal screenings were compared using a decision-analytic model based on French guidelines and current knowledge …
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
2020
Summary The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation frequency in the local population. If sequencing the entire ATP7B gene cannot identify 2 variants and the suspicion for Wilson disease is high, after reviewing the clinical data, WES (whole-exome sequencing) or WGS (whole-genome sequencing) could be applied. A workflow base…
Paper 6: EUROCAT member registries: organization and activities.
2011
BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…
Empirical mode decomposition and neural network for the classification of electroretinographic data
2013
The processing of biosignals is increasingly being utilized in ambulatory situations in order to extract significant signals' features that can help in clinical diagnosis. However, this task is hampered by the fact that biomedical signals exhibit a complex behaviour characterized by strong non-linear and non-stationary properties that cannot always be perceived by simple visual examination. New processing methods need be considered. In this context, we propose to apply a signal processing method, based on empirical mode decomposition and artificial neural networks, to analyse electroretinograms, i.e. the retinal response to a light flash, with the aim to detect and classify retinal diseases…
Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability
2013
Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis di…
2020
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown.Methods: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes.Results: Of 20 individuals, 14 showed…
Follow-Up to Ensure Continuity of Care and Support Preventive Care
2023
Over the last decades, the prevalence of chronic health conditions and disabilities among children rose steadily, thanks to medical advances in both treating the primary condition and managing its complications. The improved long-term survival rates led to persistently high rates of pediatric chronic health conditions, which are often burdened with limitation in daily activity and dependence on medication, special diets, medical technology, assistive devices, and specialized staff. Therefore, children with complex chronic conditions are a frail population who generally need healthcare services beyond what is usual for healthy children. Indeed, their health issues often require specialized a…