Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort
AbstractTo estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, wh...
Source: Mammalian Genome - April 3, 2024 Category: Genetics & Stem Cells Source Type: research

Preoperative Feeding Fortification Among Infants with Congenital Heart Disease is Associated with Higher Growth Velocity in the First 30 Days Post-repair and Lower BMI Percentile for Age at 10 Years: A Retrospective Cohort Study
AbstractIt remains unclear how preoperative nutrition fortification impacts postoperative growth trajectories and nutritional status among infants with congenital heart disease. A single center retrospective cohort study was performed to evaluate measures of growth among patients who underwent cardiac repair at 0 –18 months of age for atrial septal defect, ventricular septal defect, atrioventricular septal defect, or tetralogy of Fallot. Cohorts were analyzed at 0–30 and 31–60 days post-repair as well as at 2, 5, and 10 years of age. Records of 24 patients who received fortified nutrition and 60 pat ients who rece...
Source: Mammalian Genome - March 7, 2024 Category: Genetics & Stem Cells Source Type: research

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
J Anat. 2024 Feb 28. doi: 10.1111/joa.14033. Online ahead of print.ABSTRACTCongenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD. This includes a study of 1891 probands by our group in collaboration with others, which identified three novel genes-CDK13, PRKD1, and CHD4, in patients with syndromic CHD. PRKD1 encodes a serine/threonine protein kinase, which is important in a variety of fundamental cellular functions. Individuals wit...
Source: Journal of Anatomy - February 29, 2024 Category: Anatomy Authors: Qazi Waheed-Ullah Anna Wilsdon Aseel Abbad Sophie Rochette Frances Bu'Lock Marc-Phillip Hitz Gregor Dombrowsky Friederike Cuello J David Brook Siobhan Loughna Source Type: research

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
J Anat. 2024 Feb 28. doi: 10.1111/joa.14033. Online ahead of print.ABSTRACTCongenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD. This includes a study of 1891 probands by our group in collaboration with others, which identified three novel genes-CDK13, PRKD1, and CHD4, in patients with syndromic CHD. PRKD1 encodes a serine/threonine protein kinase, which is important in a variety of fundamental cellular functions. Individuals wit...
Source: Journal of Anatomy - February 29, 2024 Category: Anatomy Authors: Qazi Waheed-Ullah Anna Wilsdon Aseel Abbad Sophie Rochette Frances Bu'Lock Marc-Phillip Hitz Gregor Dombrowsky Friederike Cuello J David Brook Siobhan Loughna Source Type: research

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
J Anat. 2024 Feb 28. doi: 10.1111/joa.14033. Online ahead of print.ABSTRACTCongenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD. This includes a study of 1891 probands by our group in collaboration with others, which identified three novel genes-CDK13, PRKD1, and CHD4, in patients with syndromic CHD. PRKD1 encodes a serine/threonine protein kinase, which is important in a variety of fundamental cellular functions. Individuals wit...
Source: Journal of Anatomy - February 29, 2024 Category: Anatomy Authors: Qazi Waheed-Ullah Anna Wilsdon Aseel Abbad Sophie Rochette Frances Bu'Lock Marc-Phillip Hitz Gregor Dombrowsky Friederike Cuello J David Brook Siobhan Loughna Source Type: research

Interaction between clinicians and artificial intelligence to detect fetal atrioventricular septal defects on ultrasound: how can we optimize collaborative performance?
CONCLUSIONS: AI has the potential to improve performance when used in collaboration with clinicians, even if the model performance does not reach expert level. Giving additional information about model workings such as model confidence and class activation map image overlays did not improve overall performance, and actually worsened performance for images where the AI model was incorrect. This article is protected by copyright. All rights reserved.PMID:38197584 | DOI:10.1002/uog.27577 (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - January 10, 2024 Category: Radiology Authors: T G Day J Matthew S F Budd L Venturini R Wright A Farruggia T V Vigneswaran V Zidere J V Hajnal R Razavi J M Simpson B Kainz Source Type: research

Percutaneous Closure of Hemodynamically Significant Postoperative Residual Ventricular Septal Defects
AbstractThe experience with percutaneous closure of postoperative residual ventricular septal defects (VSDs) is expanding with improved device technology and techniques. To report our experience with percutaneous closure of residual VSDs after cardiac surgeries. Retrospective clinical data review of patients who had percutaneous closure of postoperative residual VSDs at our institution between 2010 and 2022. Patients ’ demographics, procedural, and follow-up data were looked at. Twelve patients (50% males) with a median age of 9.2 years (range 0.9–22) were identified. Baseline surgeries were 8 tetralogy of Fallot corr...
Source: Pediatric Cardiology - January 9, 2024 Category: Cardiology Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research

Use of glutaraldehyde-treated autologous pericardial patch in complete atrioventricular septal defect repair
CONCLUSIONS: Glutaraldehyde-treated autologous pericardium is a safe material that can be confidently used for the repair of the ventricular component of complete atrioventricular septal defects. This patch material does not adversely affect atrioventricular valve function and allows for the successful closure of ventricular septal defects.PMID:38039032 | DOI:10.26355/eurrev_202311_34470 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - December 1, 2023 Category: Drugs & Pharmacology Authors: O Doyurgan H Bal ık Source Type: research