Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease
Objective To characterise patients with trisomy 21 (Down syndrome, DS) based on the data of the German National Register for Congenital Heart Defects, to identify changes in the availability of surgical therapy over time and to analyse the impact of these changes on developing Eisenmenger syndrome (ES) as well as survival. Methods Out of 1549 patients with DS with congenital heart disease in the National Register for Congenital Heart Defects, 894 patients (55% female, mean age 17.5 years) had a post-tricuspid shunt lesion (atrioventricular septal defect 69.5%, ventricular septal defect 27.7%, patent arterial duct 2.6%) and were included in the current study. Results The likelihood of being treated interventionally or surgically before the age of 1 year increased significantly over time. In parallel, the likelihood of developing ES decreased over time (53% birth cohort during 1950s/1960s vs 0.5% birth cohort during 2000–2009, p
Publication date: Available online 25 February 2020Source: Mutation Research/Genetic Toxicology and Environmental MutagenesisAuthor(s): Yu Gao, Ping Wang, Yinping Su, Zhaonan Wang, Lin Han, Jie Li, Yinghua Fu, Fengling Zhao, Quanfu Sun, Yumin Lyu
Publication date: 1 June 2020Source: Personality and Individual Differences, Volume 159Author(s): Donald H. Saklofske
Authors: Stancu IC, Ferraiolo M, Terwel D, Dewachter I Abstract Tau is most intensely studied in relation to its executive role in Tauopathies, a family of neurodegenerative disorders characterized by the accumulation of Tau aggregates [15, 21, 38, 75, 89, 111, 121, 135, 175, 176, 192]. Tau aggregation in the different Tauopathies differs in the affected cell type, the structure of aggregates and Tau isoform composition. However, in all Tauopathies, accumulation of pathological Tau in well-characterized and well-defined brain regions, correlates strongly with symptoms associated with the dysfunction of this brain r...
Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery.What is Known:•The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries.•In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome.What is New:•In middle-inc...
Conclusion: Surgical treatment in patients with CHD and DS usually does not require highly complex surgical procedures, but are affected by infectious complications, resulting in a longer ICU and h ospital length of stay with considerable mortality.
Down syndrome (DS) is one of the most common chromosomal abnormalities. The incidence of DS at birth in developed countries has remained relatively stable over the last 20 years, at approximately 1 per 1000 live births. DS is associated with a number of congenital defects and is also at increased risk of conditions that may develop later in life, and thus requires multidisciplinary care and close surveillance. Congenital heart disease (CHD) is present in 35%–50% of patients and is haemodynamically significant in two-thirds.1 Early diagnosis and treatment in expert centres are essential for improving short-term a...
CONCLUSION: Our study confirmed that the profile and type of CHD in DS in the Moroccan setting exhibited slight differences in the distribution of these CHDs compared with European neighbours and other Western countries. Further studies are needed to determine which variables have an impact on these differences. PMID: 27805241 [PubMed - in process]
CONCLUSION: The frequency of CHD in our DS cohort is comparable with Europe, Asia ,and other KSA regions. However its pattern appears to be different from some areas in KSA. PMID: 27381537 [PubMed - in process]
CONCLUSION: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity. PMID: 26648279 [PubMed - as supplied by publisher]