The Experts below are selected from a list of 150 Experts worldwide ranked by ideXlab platform
Gudrun A. Rappold - One of the best experts on this subject based on the ideXlab platform.
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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC medical genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period.
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Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC Medical Genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period. Methods To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene. Results Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region. Conclusion As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.
Judith Goodship - One of the best experts on this subject based on the ideXlab platform.
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P328Investigating the cause of transposition of great arteries
Cardiovascular Research, 2014Co-Authors: W. U. Bada, Judith Goodship, Mj Miossec, Rafiqul Hussain, Bernard KeavneyAbstract:Introduction: Congenital Heart disease (CHD) is the most common congenital abnormality, affecting approximately 7 in 1,000 live births. Transposition of the great arteries (TGA) is the most commonly diagnosed Cyanotic Heart Defect in neonates. We propose that TGA has a genetic cause, likely to be de novo or in genes causing heterotaxy syndrome. Purpose: Exomes of 9 subjects diagnosed with TGA with no family history of CHD and their unaffected parents (trios) were subject to sequencing. The project aims were to: implement the exome bioinformatic analysis pipeline to identify de novo mutations (DNMs) and validate variants called by the pipeline. This is the first study investigating de novo changes in TGA patients. Methods: Bioinformatic pipeline was set up to analyse sequencing performed on Illumina GAIIX following exon capture. Programs used included Casava-Gerald after base calling, NovoAlign/BWA for alignment, SAMtools for variant calling. Integrated Genomics Viewer was used to inspect the variants. Polymerase chain reactions were performed prior to sending off for validation by Sanger sequencing. Results: Bioinformatic pipeline identified on average 188 DNMs per trio. 17 variants were chosen for validation. 1 trio had 2 de novo mutations: 1 nonsense in ZNF227 and 1 missense in PHLPP2. 1 trio had a de novo change in RBP5 gene. 1 trio had an inherited splice site change in RTTN, a candidate gene. Conclusions: The presence of de novo and inherited mutations suggests a complex polygenic cause of TGA.
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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC medical genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period.
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Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC Medical Genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period. Methods To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene. Results Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region. Conclusion As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.
Nadja Muncke - One of the best experts on this subject based on the ideXlab platform.
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Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC medical genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period.
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Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)
BMC Medical Genetics, 2005Co-Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun A. RappoldAbstract:Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe Heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital Heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent Cyanotic Heart Defect diagnosed in the neonatal period. Methods To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene. Results Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region. Conclusion As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.
P. Syamasundar Rao - One of the best experts on this subject based on the ideXlab platform.
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Transcatheter management of Cyanotic congenital Heart Defects: a review.
Clinical cardiology, 1992Co-Authors: P. Syamasundar RaoAbstract:In this review, the role of transcatheter methods in the management of Cyanotic congenital Heart Defects is discussed. In patients with interventricular right-to-left shunting secondary to pulmonary outflow tract obstruction (most commonly tetralogy of Fallot), balloon dilatation may be an effective palliative procedure in a substantial proportion of patients, obviating the need for a palliative shunt. We would recommend this if the patient's size or cardiac anatomy makes that patient an unsuitable candidate for safe total surgical correction. Infundibular myectomy with atherectomy catheter in tetralogy of Fallot patients may become a useful adjunct in the management of these infants. Cyanotic children with interatrial right-to-left shunt secondary to severe valvar pulmonary stenosis respond to balloon pulmonary valvuloplasty in a manner similar to that seen with isolated pulmonary valve stenosis. In these patients, balloon valvuloplasty is the treatment of choice and may be corrective in most cases. In patients with a narrowed Blalock-Taussig shunt, balloon angioplasty may improve pulmonary oligemia and systemic arterial hypoxemia and may obviate the need for a second systemic-to-pulmonary artery shunt. Balloon angioplasty is recommended if the patient's cardiac Defect is not amenable to surgical correction at a low risk either because of the size of the patient or because of the complexity of the Cyanotic Heart Defect. In patients with pulmonary valve atresia, initial opening of the atretic pulmonary valve by either laser or surgery with subsequent balloon dilatation is potentially beneficial in reducing the total number of surgical procedures that these children are likely to require. However, further clinical trials are needed prior to their general use.
Van Den Berghe Greet - One of the best experts on this subject based on the ideXlab platform.
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Near-Infrared Cerebral Oximetry to Predict Outcome After Pediatric Cardiac Surgery: A Prospective Observational Study
Lippincott Williams & Wilkins, 2018Co-Authors: Flechet Marine, Güiza Fabian, Vlasselaers Dirk, Desmet Lars, Lamote Stoffel, Delrue Heidi, Beckers Marc, Casaer Michael, Wouters Pieter, Van Den Berghe GreetAbstract:Objectives: To assess whether near-infrared cerebral tissue oxygen saturation, measured with the FORESIGHT cerebral oximeter (CAS Medical Systems, Branford, CT) predicts PICU length of stay, duration of invasive mechanical ventilation, and mortality in critically ill children after pediatric cardiac surgery. Design: Single-center prospective, observational study. Setting: Twelve-bed PICU of a tertiary academic hospital. Patients: Critically ill children and infants with congenital Heart disease, younger than 12 years old, admitted to the PICU between October 2012 and November 2015. Children were monitored with the FORESIGHT cerebral oximeter from PICU admission until they were weaned off mechanical ventilation. Clinicians were blinded to cerebral tissue oxygen saturation data. Interventions: None. Measurements and Main Results: Primary outcome was the predictive value of the first 24 hours of postoperative cerebral tissue oxygen saturation for duration of PICU stay (median [95% CI], 4 d [3–8 d]) and duration of mechanical ventilation (median [95% CI], 111.3 hr (69.3–190.4 hr]). We calculated predictors on the first 24 hours of cerebral tissue oxygen saturation monitoring. The association of each individual cerebral tissue oxygen saturation predictor and of a combination of predictors were assessed using univariable and multivariable bootstrap analyses, adjusting for age, weight, gender, Pediatric Index of Mortality 2, Risk Adjustment in Congenital Heart Surgery 1, Cyanotic Heart Defect, and time prior to cerebral tissue oxygen saturation monitoring. The most important risk factors associated with worst outcomes were an increased SD of a smoothed cerebral tissue oxygen saturation signal and an elevated cerebral tissue oxygen saturation desaturation score. Conclusions: Increased SD of a smoothed cerebral tissue oxygen saturation signal and increased depth and duration of desaturation below the 50% saturation threshold were associated with longer PICU and hospital stays and with longer duration of mechanical ventilation after pediatric cardiac surgery.status: accepte
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Near-Infrared Cerebral Oximetry to Predict Outcome After Pediatric Cardiac Surgery: A Prospective Observational Study
'Ovid Technologies (Wolters Kluwer Health)', 2018Co-Authors: Flechet Marine, Güiza Fabian, Vlasselaers Dirk, Desmet Lars, Lamote Stoffel, Delrue Heidi, Beckers Marc, Casaer Michael, Wouters Pieter, Van Den Berghe GreetAbstract:Objectives: To assess whether near-infrared cerebral tissue oxygen saturation, measured with the FORESIGHT cerebral oximeter (CAS Medical Systems, Branford, CT) predicts PICU length of stay, duration of invasive mechanical ventilation, and mortality in critically ill children after pediatric cardiac surgery. Design: Single-center prospective, observational study. Setting: Twelve-bed PICU of a tertiary academic hospital. Patients: Critically ill children and infants with congenital Heart disease, younger than 12 years old, admitted to the PICU between October 2012 and November 2015. Children were monitored with the FORESIGHT cerebral oximeter from PICU admission until they were weaned off mechanical ventilation. Clinicians were blinded to cerebral tissue oxygen saturation data. Interventions: None. Measurements and Main Results: Primary outcome was the predictive value of the first 24 hours of postoperative cerebral tissue oxygen saturation for duration of PICU stay (median [95% CI], 4 d [3–8 d]) and duration of mechanical ventilation (median [95% CI], 111.3 hr (69.3–190.4 hr]). We calculated predictors on the first 24 hours of cerebral tissue oxygen saturation monitoring. The association of each individual cerebral tissue oxygen saturation predictor and of a combination of predictors were assessed using univariable and multivariable bootstrap analyses, adjusting for age, weight, gender, Pediatric Index of Mortality 2, Risk Adjustment in Congenital Heart Surgery 1, Cyanotic Heart Defect, and time prior to cerebral tissue oxygen saturation monitoring. The most important risk factors associated with worst outcomes were an increased SD of a smoothed cerebral tissue oxygen saturation signal and an elevated cerebral tissue oxygen saturation desaturation score. Conclusions: Increased SD of a smoothed cerebral tissue oxygen saturation signal and increased depth and duration of desaturation below the 50% saturation threshold were associated with longer PICU and hospital stays and with longer duration of mechanical ventilation after pediatric cardiac surgery.status: publishe
