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Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham Dec 1998

The Role Of Gap Junctions In Congenital Diseases Of The Heart, Scott Henry Britz-Cunningham

Loma Linda University Electronic Theses, Dissertations & Projects

Background. Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart.

Methods. Connexin43 DNA from 25 normal subjects and 30 children with a variety of congenital heart diseases was amplified by the polymerase chain reaction and sequenced. Mutant DNA was expressed in cell culture and examined for its effect …


Dobutamine Stress Echocardiography For Assessing Coronary Artery Disease After Transplantation In Children., R L. Larsen, P M. Applegate, D A. Dyar, P A. Ribeiro, S D. Fritzsche, N F. Mulla, Girish S. Shirali, M A. Kuhn, R E. Chinnock, P M. Shah Aug 1998

Dobutamine Stress Echocardiography For Assessing Coronary Artery Disease After Transplantation In Children., R L. Larsen, P M. Applegate, D A. Dyar, P A. Ribeiro, S D. Fritzsche, N F. Mulla, Girish S. Shirali, M A. Kuhn, R E. Chinnock, P M. Shah

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: The purpose of this study was to determine the feasibility, safety and diagnostic accuracy of dobutamine stress echocardiography (DSE) for evaluating posttransplant coronary artery disease (TxCAD) in children, and to determine the frequency of selected cardiac events after normal or abnormal DSE.

BACKGROUND: Posttransplant coronary artery disease is the most common cause of graft loss (late death or retransplantation) after cardiac transplantation (CTx) in children. Coronary angiography, routinely performed to screen for TxCAD, is an invasive procedure with limited sensitivity. The efficacy of DSE for detecting atherosclerotic coronary artery disease is established, but is unknown in children after CTx. …


Posttransplant Recoarctation Of The Aorta: A Twelve Year Experience., Girish S. Shirali, C E. Cephus, M A. Kuhn, K K. Ogata, L K. Vander Dussen, R E. Chinnock, N F. Mulla, J K. Johnston, L L. Bailey, S R. Gundry, A J. Razzouk, R L. Larsen Aug 1998

Posttransplant Recoarctation Of The Aorta: A Twelve Year Experience., Girish S. Shirali, C E. Cephus, M A. Kuhn, K K. Ogata, L K. Vander Dussen, R E. Chinnock, N F. Mulla, J K. Johnston, L L. Bailey, S R. Gundry, A J. Razzouk, R L. Larsen

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: This study was undertaken to investigate the incidence of posttransplant recoarctation of the aorta, delineate the mode of presentation, identify risk factors that predict recoarctation and examine the results of intervention for posttransplant recoarctation.

BACKGROUND: Patients with aortic arch hypoplasia require extended arch reconstruction at transplant, with an inherent possibility of subsequent recoarctation of the aorta.

METHODS: This was a retrospective review of all children (ageyears) who underwent cardiac transplantation over a 10-year period. Collected data included pretransplant diagnosis, details of the transplant procedure and posttransplant data including development of recoarctation of the aorta, interventions for recoarctation and the …


What Should The Law Say About Disclosure Of Genetic Information To Relatives?, Ellen Wright Clayton Jan 1998

What Should The Law Say About Disclosure Of Genetic Information To Relatives?, Ellen Wright Clayton

Journal of Health Care Law and Policy

No abstract provided.


Medical Implications Of The Genetic Revolution, Monique K. Mansoura, Francis S. Collins Jan 1998

Medical Implications Of The Genetic Revolution, Monique K. Mansoura, Francis S. Collins

Journal of Health Care Law and Policy

No abstract provided.


Boling V. Romer: Federal Courts Condone Forced Withdrawal Of Blood For Dna Data Banks Despite Constitutional Concerns, C. Teddy Li Jan 1998

Boling V. Romer: Federal Courts Condone Forced Withdrawal Of Blood For Dna Data Banks Despite Constitutional Concerns, C. Teddy Li

Journal of Health Care Law and Policy

No abstract provided.


Family Disclosure In Genetic Testing For Cancer Susceptibility: Determinants And Consequences, Caryn Lerman, Beth N. Peshkin, Chanita Hughes, Claudine Isaacs Jan 1998

Family Disclosure In Genetic Testing For Cancer Susceptibility: Determinants And Consequences, Caryn Lerman, Beth N. Peshkin, Chanita Hughes, Claudine Isaacs

Journal of Health Care Law and Policy

No abstract provided.


The Argument Against A Physician's Duty To Warn For Genetic Diseases: The Conflicts Created By Safer V. Estate Of Pack, Angela Liang Jan 1998

The Argument Against A Physician's Duty To Warn For Genetic Diseases: The Conflicts Created By Safer V. Estate Of Pack, Angela Liang

Journal of Health Care Law and Policy

No abstract provided.


Ethical Responsibilities Of Patients And Clinical Geneticists, Allen Buchanan Jan 1998

Ethical Responsibilities Of Patients And Clinical Geneticists, Allen Buchanan

Journal of Health Care Law and Policy

No abstract provided.