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pediatric cardiovascular disease genetics molecular

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https://www.readbyqxmd.com/read/27736743/from-rat-pathophysiology-to-genomic-medicine-an-interview-with-howard-jacob
#1
(no author information available yet)
Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders...
October 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/24775416/pediatric-cardiology-in-the-genomic-era
#2
José Marín-García
While congenital heart disease, cardiomyopathy, arrhythmias and acquired cardiac diseases are common causes of mortality and morbidity in infants and children, the basic underlying mechanisms of many specific pediatric cardiovascular diseases still remains undetermined. Breakthroughs in molecular genetic technology have just begun to be applied in pediatric cardiology stemming from the use of chromosomal mapping and the identification of genes involved in both the primary etiology and as significant risk factors in the development of cardiac and vascular abnormalities...
April 2004: Revista Española de Cardiología
https://www.readbyqxmd.com/read/23623909/evidence-based-medicine-comes-of-age-in-pediatric-cardiology
#3
Gail D Pearson, Jonathan R Kaltman, Michael S Lauer
Outcomes have improved significantly in pediatric cardiovascular disease in recent decades. The challenge now is to sustain these advances through innovative clinical trials, fundamental molecular investigations, genetics and genomics, and outreach to families, emphasizing the importance of participating in research. We describe several such efforts and provide a vision of the future for pediatric cardiovascular research.
June 25, 2013: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/22685656/congenital-anomalies-of-the-kidney-and-urinary-tract-a-genetic-disorder
#4
Ihor V Yosypiv
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3-6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects...
2012: International Journal of Nephrology
https://www.readbyqxmd.com/read/22640994/how-insights-from-cardiovascular-developmental-biology-have-impacted-the-care-of-infants-and-children-with-congenital-heart-disease
#5
REVIEW
Alvin J Chin, Jean-Pierre Saint-Jeannet, Cecilia W Lo
To illustrate the impact developmental biology and genetics have already had on the clinical management of the million infants born worldwide each year with CHD, we have chosen three stories which have had particular relevance for pediatric cardiologists, cardiothoracic surgeons, cardiac anesthesiologists, and cardiac nurses. First, we show how Margaret Kirby's finding of the unexpected contribution of an ectodermal cell population - the cranial neural crest - to the aortic arch arteries and arterial pole of the embryonic avian heart provided a key impetus to the field of cardiovascular patterning...
July 2012: Mechanisms of Development
https://www.readbyqxmd.com/read/15104988/-pediatric-cardiology-in-the-genomic-era
#6
REVIEW
José Marín-García
While congenital heart disease, cardiomyopathy, arrhythmias and acquired cardiac diseases are common causes of mortality and morbidity in infants and children, the basic underlying mechanisms of many specific pediatric cardiovascular diseases still remains undetermined. Breakthroughs in molecular genetic technology have just begun to be applied in pediatric cardiology stemming from the use of chromosomal mapping and the identification of genes involved in both the primary etiology and as significant risk factors in the development of cardiac and vascular abnormalities...
April 2004: Revista Española de Cardiología
https://www.readbyqxmd.com/read/11486220/the-molecular-basis-of-congenital-cardiac-disease
#7
Arnold W. Strauss
Today, congenital cardiovascular disease is virtually always amenable to corrective or palliative surgical interventions. However, the mechanisms causing developmental anomalies of the heart and vessels have remained obscure until recently. This review presents genetic defects causing the pediatric vasculopathies; Marfan's syndrome, inherited supravalvar aortic stenosis, and Williams' syndrome. A synopsis of known mutations causing human cardiomyopathies in nuclear genes encoding contractile proteins, cardiomyocyte structural proteins, and mitochondrial proteins essential for cardiac energy production is provided...
1998: Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual
https://www.readbyqxmd.com/read/10961094/acid-phosphatase-genetic-polymorphism-and-cardiovascular-risk-factors-in-a-pediatric-population
#8
COMPARATIVE STUDY
A Guerra, C Rego, E M Castro, S Sinde, D Silva, P Rodrigues, M E Crespo, F Albergaria, M Bicho
BACKGROUND: Although the clinical expression of cardiovascular disease usually occurs in adulthood, it is unanimously accepted that atherosclerosis begins in the pediatric age. Because of the early onset of the disease, it is of great importance to screen for major risk factors since pre-school age, especially in risk families. Recent investigations have shown a great interest not only in studying the classic risk factors, but also in the evaluation of oxidative stress and the main antioxidant defense systems...
June 2000: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/10721449/-the-best-of-pediatric-cardiology-in-1999
#9
REVIEW
J Kachaner
Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon...
January 2000: Archives des Maladies du Coeur et des Vaisseaux
https://www.readbyqxmd.com/read/10429822/-what-s-new-in-pediatric-cardiology
#10
REVIEW
D Bonnet, D Sidi
In recent years, close collaborations have been established between pediatric cardiology, medical and molecular genetics, fetal cardiology and pediatric radiology. As a consequence, several congenital heart defects and syndromes including cardiovascular malformations have been related to microdeletions such as 22q11 in Di George syndrome and 7q in Williams syndrome. Prenatal detection of heart malformations has become a crucial part of the management of life-threatening malformations of the neonate such as the transposition of the great arteries or the coarctation of the aorta...
July 1999: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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