During a period of four months, 9,418 individuals, comprising new hospital admissions, new employ... more During a period of four months, 9,418 individuals, comprising new hospital admissions, new employees and blood donors, were tested for HbsAg and 1,212 for anti-HBs. A high incidence of positivity for both was found in the different groups under investigation. Subtyping was carried out on acutely ill patients and carriers. Sbtype ay was common in acutely ill patients and among addicts and subtype ad in nonhepatitis patients and healthy carriers. The significance of these findings and possible measures for prevention of spread of the infection are discussed.
The incidence of the 22q11.2 deletion syndrome in children referred to the Cardiology Service at ... more The incidence of the 22q11.2 deletion syndrome in children referred to the Cardiology Service at the Red Cross Children's Hospital, Cape Town, South Africa : a prospective study
Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidi... more Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown. This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD. Methods: Genotyping was performed on 90 patients with nonsyndromic CHD using the Affymetrix CytoScan HD platform. These data were used to identify large, rare CNVs in known CHD-associated genes and candidate genes. Results: We identified eight CNVs overlapping known CHD-associated genes ( GATA4 , CRKL , TBX1 , FLT4 , B3GAT3 , NSD1 ) in six patients. The analysis also revealed CNVs encompassing five candidate genes likely to play a role in the development of CHD ( DGCR8 , KDM2A , JARID2 , FSTL1 , CYFIP1 ) in five patients. One ...
In the last decade, however, a large Italian study has shed light on a possible link between SIDS... more In the last decade, however, a large Italian study has shed light on a possible link between SIDS and the long QT syndrome (LQTS), a genetic disorder which predisposes to cardiac arrhythmias, or sudden cardiac death. This remarkable story serves as a striking example of the power of genomics. It illustrates how a clear understanding of the exact genetic mechanisms of disease may lead to accurate genotype-phenotype correlations and effective therapeutic options. It has also served as a paradigm for how other inherited disorders may be studied to reveal new, more effective therapeutic possibilities.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2006
OBJECTIVES To compare children with Down syndrome and children without Down syndrome and investig... more OBJECTIVES To compare children with Down syndrome and children without Down syndrome and investigate whether there is a significant difference in the burden that is placed on the health care system between these two groups only in respect of the repair of congenital heart disease at Red Cross War Memorial Children's Hospital, Cape Town, South Africa. DESIGN This study is a retrospective case control review. SETTING Red Cross War Memorial Children's Hospital, Cape Town, South Africa. SUBJECTS The sample group of 50 Down syndrome children who had received cardiac surgery between January 1998 and June 2003 was compared with a control group of 50 nonsyndromic children who had received cardiac surgery during the same period. OUTCOME MEASURES Sex and diagnoses (cardiac and noncardiac), number of days spent in hospital and in ICU, complication rates, re-operation rates, early mortality rates, planned further cardiac surgery. Costs of these outcomes were not quantified in exact mone...
Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a den... more Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for southern Africa. This will facilitate research into the epidemiology and genetic determinants of CHD in the region. This paper introduces the PROTEA project, characterizes its initial cohort, from the Western Cape Province of South Africa, and compares the proportion or “cohort-prevalences” of CHD-subtypes with international findings.Methods: PROTEA is a prospective multicenter CHD registry and biorepository. The initial cohort was recruited from seven hospitals in the Western Cape Province of South Africa from 1 April 2017 to 31 March 2019. All patients with structural CHD were eligible for inclusion. Descriptive data for the preliminary cohort are presented. In addition, cohort-prevalences (i.e., the proportion of patients within the cohort with a specific CHD-subtype) of 26 CHD-subtypes in PROTEA's pediatric c...
Background Tetralogy of Fallot (ToF) and coarctation of the aorta (CoA) each constitute approxima... more Background Tetralogy of Fallot (ToF) and coarctation of the aorta (CoA) each constitute approximately 7% of congenital heart disease (CHD) births worldwide. Compared to developed countries, developing countries have a disparate level of access to prompt diagnosis and treatment for these diseases. Computational fluid dynamics (CFD) approaches implemented on routinely available non-invasive imaging data may yield low-cost improvements to the management of these patients. Purpose The purpose of this research is to develop a patient-specific computational pipeline that allows the modelling of blood flow in diseased arteries of patients suffering from ToF and CoA. The project aims to prove the feasible use of broadly available imaging techniques - CT angiograms (CTA) and echocardiographs (echo) - for achieving this in low-to-middle income countries. The capability of the pipeline will be demonstrated through a qualitative study of the effects of different systemic to pulmonary shunt conf...
During a period of four months, 9,418 individuals, comprising new hospital admissions, new employ... more During a period of four months, 9,418 individuals, comprising new hospital admissions, new employees and blood donors, were tested for HbsAg and 1,212 for anti-HBs. A high incidence of positivity for both was found in the different groups under investigation. Subtyping was carried out on acutely ill patients and carriers. Sbtype ay was common in acutely ill patients and among addicts and subtype ad in nonhepatitis patients and healthy carriers. The significance of these findings and possible measures for prevention of spread of the infection are discussed.
The incidence of the 22q11.2 deletion syndrome in children referred to the Cardiology Service at ... more The incidence of the 22q11.2 deletion syndrome in children referred to the Cardiology Service at the Red Cross Children's Hospital, Cape Town, South Africa : a prospective study
Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidi... more Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric morbidity and mortality worldwide. Although the etiology of CHD is poorly understood, genetic factors including copy number variants (CNVs) contribute to the risk of CHD in individuals of European ancestry. The presence of rare CNVs in African CHD populations is unknown. This study aimed to identify pathogenic and likely pathogenic CNVs in South African patients with CHD. Methods: Genotyping was performed on 90 patients with nonsyndromic CHD using the Affymetrix CytoScan HD platform. These data were used to identify large, rare CNVs in known CHD-associated genes and candidate genes. Results: We identified eight CNVs overlapping known CHD-associated genes ( GATA4 , CRKL , TBX1 , FLT4 , B3GAT3 , NSD1 ) in six patients. The analysis also revealed CNVs encompassing five candidate genes likely to play a role in the development of CHD ( DGCR8 , KDM2A , JARID2 , FSTL1 , CYFIP1 ) in five patients. One ...
In the last decade, however, a large Italian study has shed light on a possible link between SIDS... more In the last decade, however, a large Italian study has shed light on a possible link between SIDS and the long QT syndrome (LQTS), a genetic disorder which predisposes to cardiac arrhythmias, or sudden cardiac death. This remarkable story serves as a striking example of the power of genomics. It illustrates how a clear understanding of the exact genetic mechanisms of disease may lead to accurate genotype-phenotype correlations and effective therapeutic options. It has also served as a paradigm for how other inherited disorders may be studied to reveal new, more effective therapeutic possibilities.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2006
OBJECTIVES To compare children with Down syndrome and children without Down syndrome and investig... more OBJECTIVES To compare children with Down syndrome and children without Down syndrome and investigate whether there is a significant difference in the burden that is placed on the health care system between these two groups only in respect of the repair of congenital heart disease at Red Cross War Memorial Children's Hospital, Cape Town, South Africa. DESIGN This study is a retrospective case control review. SETTING Red Cross War Memorial Children's Hospital, Cape Town, South Africa. SUBJECTS The sample group of 50 Down syndrome children who had received cardiac surgery between January 1998 and June 2003 was compared with a control group of 50 nonsyndromic children who had received cardiac surgery during the same period. OUTCOME MEASURES Sex and diagnoses (cardiac and noncardiac), number of days spent in hospital and in ICU, complication rates, re-operation rates, early mortality rates, planned further cardiac surgery. Costs of these outcomes were not quantified in exact mone...
Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a den... more Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for southern Africa. This will facilitate research into the epidemiology and genetic determinants of CHD in the region. This paper introduces the PROTEA project, characterizes its initial cohort, from the Western Cape Province of South Africa, and compares the proportion or “cohort-prevalences” of CHD-subtypes with international findings.Methods: PROTEA is a prospective multicenter CHD registry and biorepository. The initial cohort was recruited from seven hospitals in the Western Cape Province of South Africa from 1 April 2017 to 31 March 2019. All patients with structural CHD were eligible for inclusion. Descriptive data for the preliminary cohort are presented. In addition, cohort-prevalences (i.e., the proportion of patients within the cohort with a specific CHD-subtype) of 26 CHD-subtypes in PROTEA's pediatric c...
Background Tetralogy of Fallot (ToF) and coarctation of the aorta (CoA) each constitute approxima... more Background Tetralogy of Fallot (ToF) and coarctation of the aorta (CoA) each constitute approximately 7% of congenital heart disease (CHD) births worldwide. Compared to developed countries, developing countries have a disparate level of access to prompt diagnosis and treatment for these diseases. Computational fluid dynamics (CFD) approaches implemented on routinely available non-invasive imaging data may yield low-cost improvements to the management of these patients. Purpose The purpose of this research is to develop a patient-specific computational pipeline that allows the modelling of blood flow in diseased arteries of patients suffering from ToF and CoA. The project aims to prove the feasible use of broadly available imaging techniques - CT angiograms (CTA) and echocardiographs (echo) - for achieving this in low-to-middle income countries. The capability of the pipeline will be demonstrated through a qualitative study of the effects of different systemic to pulmonary shunt conf...
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Papers by Rik De Decker