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GENETICS


Saturday, 5/3/2003

8:30am–11:30am
3150—Handheld Computing for the Pediatrician (Part I) PDA 101: Introduction To Handheld Computing for the Pediatrician
PAS Mini Course
Chairs: K. Johnson, Vanderbilt University, Nashville, TN and A. Meyers, Boston University Medical Center, Boston, MA

The use of handheld computers in medicine has grown dramatically. This session is intended for those who have a handheld computer (Palm or Pocket PC), or are considering purchasing one, but who have not yet learned how to use it. The goal of the session is to help the beginner achieve a working familiarity with handheld computing such that they will leave the session ready, able and eager to use their own device in their daily life and clinical practice. Ideally, all participants should bring their own handheld. The session will include an overview of the devices and their desktop software; mastery of the basic (built-in) functions: datebook/calendar, address book, memo pad, to-do lists; and add-on applications: where to find them, how to install them and what applications are available specific to clinical pediatrics. Participants should be familiar with the use of personal computers and the Internet, but no prior knowledge of handheld computing is assumed.

Introductions and Overview of Mini Course

Lecture (with Audience Participation)—PDA Basics, Hardware and Software, the Palm OS and Its Functions

Palm OS Functions, Continued; PPC OS

Medical and Pediatric Applications for the PDA
 

8:30am–11:30am
3199c—Applying for NIH Research Grants
Educational Workshop
Pedro A. José, Professor of Pediatrics and Physiology and Biophysics, Georgetown University Medical Center, Washington, DC, Anshumali Chaudhari, Scientific Review Administrator, Experimental Cardiovascular Sciences Study Section, National Institutes of Health, Bethesda, MD, Terry Rogers Bishop, Training and Careers Program Director and Erythroid Lineage Genomics (ELGAP), National Institutes of Health, Bethesda, MD and Linda L. Wright, Deputy Director, Center for Research for Mothers and Children, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD

In the current climate of funding opportunities, the ability to successfully obtain extramural support involves applying for grants that are appropriate for an investigator's career stage and drafting a clear and focused application. In this session, we will discuss career-stage-appropriate funding opportunities from the NIH. We will also address how to write a grant application, focusing on strategies with proven success. The working of NIH study sections will be reviewed along with how to best address the concerns of review panels. We will also focus on how to obtain funding for fellowship postdoctoral training and early stages of an academic career.
 

8:30am–11:30am
3201—Beyond p Values—Inference in Clinical Research
Educational Workshop
R. Wright and D. Shay, Department of Pediatrics, Children’s Hospital, Boston, MA and Centers for Disease Control

Background: Observational research studies have become increasingly complex. The results of observational research studies can be driven by properties other than chance or causation. While these factors may drive the p values of the results, they also change the appropriate interpretation.

Workshop Methods: In the first half of this workshop, we will formally define confounding, effect modification, restriction vs. heterogeneity of exposure, intermediate variables, selection bias and differential vs. nondifferential information bias. In the second half, we will use a case-based approach to illustrate examples of studies in which the results are driven by these factors and compare differences in the appropriate interpretation in the presence and absence of these factors. Minimal math skills will be needed, however, familiarity with basic concepts of study design and data analysis (case control vs. cohort study, interpretation of Ors, etc.) is recommended. We will specifically illustrate examples of effect modification vs. confounding, intermediate variables vs. confounding, selection bias, underpowered studies, and the role of measurement error in determining effect estimates.
 

8:30am–12:00pm
3270A—LWPES Plenary Session I
LWPES

Opening Remarks and Awards
Mark A. Sperling, President, LWPES; University of Pittsburgh, Children's Hospital, Pittsburgh, PA

Lawson Wilkins Lecture
Lessons from Tissue-Specific lgfl Knockout Mice
Derek LeRoith, National Institutes of Health, Bethesda, MD

Robert Blizzard Lecture
Autoimmune Polyglandular Syndrome Type I: Clinical Insights from Molecular Discoveries
Diane Mathis, Joslin Diabetes Center, Boston, MA

Esoterix Lecture
Defective Signaling in Endocrine Disorders
Allen Spiegel, National Institutes of Health, Bethesda, MD
 

12:00pm–3:00pm
3500—The New Genetics: Impact on the Primary Care Pediatrician and the Ethical, Legal and Psychosocial Issues
PAS Mini Course
Chair: Benjamin Siegel, Boston University School of Medicine, Boston Medical Center, Boston, MA and Aubrey Milunsky, Boston University School of Medicine, Boston Medical Center, Boston, MA

There are many new technologies to help the primary care pediatrician more accurately diagnose genetic disorders. These newer diagnostic tests and their interpretation require a close working relationship between the pediatrician and the clinical geneticist. Approaches to the diagnosis, management, and discussion of the psychosocial, legal and ethical issues of genetics, from screening, to giving bad news, to helping families understand and cope with the impact of genetic diseases within a family context, have always been challenges for the general pediatrician. This session will examine the information needed from the clinical assessment of the child in relationship to the family context that increases the likelihood that the pediatrician is dealing with a possible genetic issue. Newer diagnostic genetic technologies will be reviewed. Exploration of the history, including the family pedigree, aspects of the physical exam that alert the pediatrician to a possible genetic problem, the referral process to a clinical geneticist and the legal, ethical and psychosocial issues that should be addressed with the individual or family member before the referral to the geneticist will be presented. The collaborative process between the patient/family, the pediatrician and geneticist will be examined.

The History and Physical Examination: Screening for Genetic Disorders in Primary Care
Benjamin S. Siegel, Boston University School of Medicine, Boston Medical Center, Boston, MA

New Diagnostic Technologies and the Role of the Clinical Geneticist
Aubrey Milunsky, Boston University School of Medicine, Boston Medical Center, Boston, MA

ELSI: The Ethical, Legal and Social Issues from the Perspective of Primary Care and Clinical Genetics
Benjamin S. Siegel, Boston University School of Medicine, Boston Medical Center, Boston, MA
Aubrey Milunsky, Boston University School of Medicine, Boston Medical Center, Boston, MA

Open Discussion
 

12:00pm–3:00pm
3501—Handheld Computing for the Pediatrician (Part II) PDA 102: Intermediate/Advanced Handheld Computing for the Pediatrician
PAS Mini Course
Chairs: K. Johnson, Vanderbilt University, Nashville, TN and A. Meyers, Boston University Medical Center, Boston, MA

The field of medicine is replete with examples of ways that handheld computers may be used to educate, organize and inform clinicians. There are also examples of how researchers may benefit from this technology. During this more advanced session, we will discuss some of these uses of handheld computers. We will provide examples of software in a variety of domains and discuss their historical, current and future use. We also will demonstrate some future technology and discuss its implications. At the conclusion of this session, participants will have increased familiarity with state-of-the-art applications, techniques to install them and the future of handheld computers and wireless networking.

Introductions and Overview of Mini Course

Lecture with Audience Participation: The Top 10 Novel Uses of PDAs in Health Care

Exercises and Demonstrations
 

12:00pm–3:00pm
3556—Introductions to Molecular Techniques in Pediatric Research Training: Basic Principles of Gene Regulation and Expression Analyses
Educational Workshop
P. L. Ramsay, Departments of Perinatal-Neonatal Medicine and Cellular and Molecular Biology and H. Karpen, Departments of Perinatal-Neonatal Medicine, Baylor College of Medicine, Houston, TX

Cell and molecular biology have revolutionized our understanding of the aberrant physiology underlying the mechanisms of human disease. Subspecialty training in pediatrics requires a comprehensive understanding of the molecular methodologies involved in the current diagnosis and treatment of human disease, as well as the future design of therapeutic interventions. This workshop is designed to provide the pediatric physician in training with an overview of some basic molecular principles relevant to understanding normal gene expression, as well as an understanding of the methodologies utilized in current diagnostic and experimental designs. Workshop modules will focus on participant identification of several common laboratory methodologies for DNA sub-cloning, generation of reporter gene constructs and reporter gene system analyses. Upon completion of this workshop, participants will be able to (a) describe two critical components for gene sub-cloning and analysis, (b) design a tissue-specific reporter gene construct for both in vitro and/or in vivo analysis and (c) identify two methods for the analysis of genetically altered gene expression in vitro and/or in vivo.
 

1:00pm–3:00pm
3675A—Hot Topics in Renal Genetic Diseases
ASPN Symposium
Chair: Friedhelm Hildebrandt, University of Michigan, Ann Arbor, MI and Lisa Satlin, Mount Sinai School of Medicine, New York, NY

This session will highlight recent progress that has been made in the identification of genes that are mutated in several hereditary diseases associated with high morbidity in the pediatric population. The objective is to understand the molecular mechanisms underlying the genesis of each of these diseases. Discussion will focus on the identity of the responsible gene, its localization within the kidney and physiology.

ARPKD: Identification of the Gene and Analysis of the Protein
Peter C. Harris, Mayo Clinic, Rochester, MN

Discovering Novel Disease Mechanisms by Positional Cloning of Genes Causing Nephronophthisis
Friedhelm Hildebrandt, University of Michigan, Ann Arbor, MI

The Genetics of Primary Hyperoxalurias
Craig B. Langman, Feinberg School of Medicine, Northwestern University, Chicago, IL

Cystinuria
Paul R. Goodyer, McGill University, Montreal, Canada

The Roles of Podocin and Nephrin in Podocyte Biology
William E. Smoyer, University of Michigan, Ann Arbor, MI

Sponsored jointly with the Sponsored by the NephCure Foundation
 

1:00pm–3:00pm
3680—Hematology/Oncology I
Original Science Abstracts - Platform Session
Moderators: Thomas C. Abshire and Laurence A. Boxer
 

1:00pm–3:00pm
3704c—So You Want To Be an Author
Educational Workshop
Catherine D. DeAngelis, Editor-in-Chief, JAMA, Chicago, IL

This interactive session will provide the attendee with basic information on publication of a manuscript, as derived from the perspective of an editor. Issues (with data provided when possible) to be discussed are:

A. View From the Inside

  1. Characters involved
  2. Manuscript flow
  3. Peer review process
  4. Working with the author

B. View From the Outside

  1. How to choose the right journal for your paper
  2. How to prepare the cover letter
  3. How to prepare the abstract
  4. How to prepare the body of the manuscript
  5. How to prepare the references

C. Conflict of Interest and Ethics
 

1:30pm–3:30pm
3740A—Diabetes Symposium
LWPES
Chair: Nicole Glaser, University of California, Davis, Sacramento, CA

Significant advances in both the understanding of the underlying causes, as well as in pragmatic aspects of clinical management of diabetes, are highlighted. Work at three levels: 1) biology of islet cell function and survival, 2) analysis of informative monogenic forms of diabetes, and 3) new methods of diabetes monitoring, will be discussed.

Common Threads in Types I and II Diabetes
Morris White, Joslin Diabetes Center, Boston, MA

New Monogenic Forms of Diabetes: Insights and Puzzles
Constantine Polychronakos, McGill University, Montreal, Canada

New Monitoring Methods in Diabetes
Denis Daneman, Hospital for Sick Children, Toronto, Canada

Supported by an educational grant from the Juvenile Diabetes Research Foundation International
 

3:15pm–5:15pm
3751—New Genetics of Childhood Acute Leukemia
PAS/ASPHO Topic Symposium
Chair: Valerie Castle, University of Michigan, Ann Arbor, MI

Exciting new advances in gene expression analysis and animal models of childhood ALL and AML have opened the way for the emerging prospect of new forms of targeted therapy for childhood leukemia.

Introduction
Valerie P. Castle, University of Michigan, Ann Arbor, MI

Genetic Models of AML and New Therapeutic Approaches
D. Gary Gilliland, Harvard Medical School, Boston, MA

Gene Expression Arrays in B-Lineage ALL and AML
James R. Downing, St. Jude Children's Research Hospital, Memphis, TN

New Genetics of T-Cell ALL: A Fish Tale
A. Thomas Look, Dana Farber Cancer Institute, Boston, MA

Discussion

Sponsored jointly with the American Society of Pediatric Hematology/Oncology
 

3:15pm–5:15pm
3805—Nephrology I
Original Science Abstracts - Platform Session
Chair: Samir S. El-Dahr and Kathy L. Jabs
 

3:15pm–5:15pm
3807—Pediatric Nutrition and Metabolism
Original Science Abstracts - Platform Session
Chair: Robert J. Shulman and John N. Udall
 

3:15pm–5:15pm
3850c—An Innovative Approach to Self-Directed Professional Development and Lifelong Learning
Educational Workshop
Henry H. Bernstein, Associate Professor of Pediatrics, Harvard Medical School, Boston, MA and Carol Carraccio, Professor of Pediatrics, University of Maryland School of Medicine, Baltimore, MD

The 21st century heralds a paradigm shift in medical education with a focus turned to competence and outcomes. The Accreditation Council for Graduate Medical Education (ACGME) is spearheading a competency-based system of graduate medical education coincident with the American Board of Pediatrics’ (ABP) initiative to transition from periodic "recertification" to "maintenance of certification." Our greatest challenge as educators lies in developing tools to evaluate competence during training and to equip all trainees with the skills necessary to achieve quality continuous professional development in order to maintain their certification in pediatrics.

The overarching goal of this workshop is to explore the value of using technology as a tool for promoting self-assessment and lifelong learning in continuous professional development. We will demonstrate how physicians can use an innovative web-centered tool to document competence in practice-based learning and improvement. Participants will discover how to create and manage a personal list of educational needs based on their professional experiences, develop individualized learning plans to address these needs and then document the impact of learning on their practice.

The outcome of implementing this web-based technology will be the ability to demonstrate competence of our trainees in the domain of practice-based learning and improvement to the ACGME and the preparation of tomorrow’s physicians to demonstrate evidence of continuous professional development in maintaining their certification.
 

3:15pm–5:15pm
3853c—Who Decides? Bioethical Dilemmas in Pediatrics
Educational Workshop
Susan Albersheim, Clinical Professor, Department of Pediatrics, British Columbia's Children's Hospital, Vancouver, BC, Canada and Joel E. Frader, Professor of Pediatrics/Medical Ethics and Humanities, Feinberg School of Medicine, Northwestern University, Chicago, IL

What should you do when parents want you to continue burdensome treatments, which you think are futile? What should you do when parents want you to stop intensive care treatment, the continuation of which you think is in the best interests of the child? Who ought to make decisions for the not yet competent? Is it the parents, the doctors, the ethics committee, society or some other disinterested third party? The goal of this seminar is to consider the complexity of these difficult decisions, looking at factual and evaluative considerations. Through interactive case discussion we will identify the problems and potential pitfalls in decision-making for the pediatric population.
 

5:15pm7:15pm
Poster Session I
Original Science Abstracts – Poster Session

  • Type 1 Diabetes Mellitus
     

Sunday, 5/4/2003

8:00am–10:00am
4102—Smallpox and Bioterrorism Preparedness Planning
PAS/PIDS Topic Symposium
Chair: John F. Modlin, Children's Hospital at Dartmouth/Dartmouth Medical School, Lebanon, NH

This program will give a "pediatric perspective" to smallpox bioterrorism preparedness planning efforts now under way within federal, state and local public health agencies. It will include a review of smallpox epidemiology, clinical disease, smallpox (vaccinia) vaccine and lessons learned from the WHO Smallpox Eradication Program. The nature of the current threat and responses to that threat will be discussed.

Smallpox Epidemiology and Clinical Disease
Walter A. Orenstein, National Immunization Program, Centers for Disease Control and Prevention, Atlanta, GA

Surveillance/Control Methods
J. Michael Lane, Formerly Director, Smallpox Eradication Program, CDC, Atlanta, GA

Smallpox (Vaccinia) Vaccine: Efficacy and Complications
John M. Neff, Children’s Hospital and Regional Medical Center, Seattle, WA

Smallpox Bioterrorism Preparedness Planning
John F. Modlin, Children's Hospital at Dartmouth/Dartmouth Medical School, Lebanon, NH

Sponsored jointly with the Pediatric Infectious Diseases Society
 

8:00am–10:00am
4153—Clinical Bioethics
Original Science Abstracts - Platform Session
Moderators: William L. Meadow and David E. Woodrum
 

8:00am–10:00am
4155—Genetic Basis of Cardiac Disease
Original Science Abstracts - Platform Session
Moderators: Bruce D. Gelb and Deepak Srivastava
 

8:00am–10:00am
4156—Hematology/Oncology II
Original Science Abstracts - Platform Session
Moderators: Prasad Mathew and Daniel S.G. Wechsler
 

8:00am–10:00am
4157—Outcomes of Prenatal Exposures
Original Science Abstracts - Poster Symposium
Moderators: Mark L. Batshaw and Bruce K. Shapiro
 

11:45am1:45pm
Poster Session I
I
Original Science Abstracts – Poster Session

  • Genetics/Inborn Errors of Metabolism
     

2:00pm–4:00pm
4631c—The Art of Lecturing
Educational Workshop
Beverly Wood, Professor of Radiology & Pediatrics, Keck School of Medicine, University of Southern California

Receive helpful pointers to make your talks memorable and useful. This session will introduce methods of planning and organizing presentations, preparing and designing visual aids, handouts and clear delivery.
 

2:00pm–5:00pm
4668—Terrorism and Children
Educational Workshop
R. Leggiadro, A. Fine, S. Shelov and G. Foltin, Hackensack University Medical Center, Hackensack, NJ, New York City Dept of Health, New York, NY, Maimonides Medical Center, Brooklyn, NY and NYU School of Medicine, New York, NY

The 2001 World Trade Center and anthrax attacks established terrorism as a reality in this country. In addition to anthrax, critical biological agents include smallpox, plague, tularemia, botulinum toxin, and viral hemorrhagic fever. Release of sarin nerve gas in the Tokyo subway system by the Aum Shinrikyo cult in 1995 resulted in some 5,000 casualties, including 12 deaths, and the threat of a radiation incident perpetrated by terrorists is also real. Pediatricians have a key role in the management of illness after a terrorist incident, including biological, chemical or nuclear releases. Effective preparedness requires an increased index of suspicion for unusual diseases or clusters of illness, with prompt reporting to public health authorities to facilitate recognition of an outbreak and subsequent intervention. Psychological effects of a domestic terrorist disaster on children will also need to be managed appropriately. This workshop will address the epidemiologic, clinical, preparedness and response issues relevant to biological, chemical and nuclear threats to children, who are especially vulnerable. Specific and detailed diagnostic and management information will be provided, as well as emergency contact and educational resource information.
 

2:30pm–4:00pm
4732—Primary Immunodeficiency Diseases, a Hematologic and Molecular Approach
PAS/ASPHO State of the Art
Chair: Laurence A. Boxer, University of Michigan Medical Center, Ann Arbor, MI

The objective of this symposium is to better understand the molecular and genetic basis of three prototypes of primary immunodeficiency disorders that are of interest to hematologists and the curious pediatrician. Exploring the function of the genes involved in these rare disorders not only contributes to the understanding of the clinical phenotypes but also may lead to improved treatment and ultimately will make gene therapy a reality.

Dr. Notarangelo will describe the different phenotypes of the known Hyper-IgM Syndromes and correlate the clinical findings with the molecular defects associated with these diseases. He will discuss in detail the consequences of mutations of CD40 ligand and its receptor, CD40, on activation of B and T cells and will dissect the molecular events resulting from mutations of activation induced cytidine deaminase (AID) and NEMO.

The clinical spectrum of symptoms associated with mutations of WASP, the gene responsible for the Wiskott-Aldrich Syndrome (WAS) if mutated, will be presented in the second talk. An attempt will be made to correlate mutations of WASP with clinical phenotypes and ultimate outcome.

In the last talk, Dr. Puck will discuss the consequences of the immune dysregulation caused by defects in the cell death pathway and the genetic basis for Autoimmune Lymphoproliferative Syndrome (ALPS).

Of Genes and Phenotypes: The Clinical, Molecular and Immunological Spectrum of Immunodeficiency with Hyper–IgM
Luigi D. Notarangelo, University of Brescia, Brescia, Italy

The Wiskott-Aldrich Syndrome, a Challenge for the Hematologist
Hans D. Ochs, University of Washington School of Medicine, Seattle, WA

Autoimmune Lymphoproliferative Disease: When Lymphocytes Don't Die as They Should
Jennifer M. Puck, National Human Genome Research Institute/National Institutes of Health, Bethesda, MD

Sponsored jointly with the American Society of Pediatric Hematology/Oncology
 

2:30pm–4:30pm
4760—The Changing Spectrum of Pediatric Specialty Care: Implication for Pediatric Generalist and Specialist
PAS State of the Art
Chair: Russell Chesney, University of Tennessee Health Science Center, Memphis, TN

In the face of dramatic alterations in health care delivery during the 1990s, the roles of pediatric generalists and subspecialists have changed. This has led to national debate as to how general pediatricians and subspecialists should be trained, how they should interact and what final product or solution is desired. Both the United States and Canada are affected by these changes. In this session three experts will cover important aspects of this emerging problem.

Overview
Russell W. Chesney, University of Tennessee Health Science Center, Memphis, TN

Distribution of Generalist and Subspecialist Care for Children: A Moving Target
Julia A. McMillan, Johns Hopkins University School of Medicine, Baltimore, MD

Subspecialty Pediatrics in Canada
Robert H.A. Haslam, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada

Who Cares for Children with Chronic Conditions?
James M. Perrin, Mass General Hospital for Children, Harvard Medical School, Boston, MA

Discussion

Sponsored jointly with the Public Policy Council of the APS, AMSPDC, SPR and the Public Policy Committee of the APA
 

2:45pm–4:15pm
4780—Sex and the Pediatrician
PAS/LWPES State of the Art
Chair: David Geller, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA

The processes of gonadal differentiation, X-inactivation and the proper imprinting of selected genes are all required for the correct development of gonadal and phenotypic sex. Recent advances in these three areas will be presented.

Sexual Differentiation: Battle of the Sexes
J. Larry Jameson, Northwestern University Medical School, Chicago, IL

X-Inactivation in Pediatric Endocrinology
Huntington F. Willard, Institute for Genome Sciences and Policy, Duke University, Durham, NC

Imprinted Genes and the Role of Parental Sex
J. Richard Chaillet, University of Pittsburgh, Pittsburgh, PA

Sponsored jointly with the Lawson Wilkins Pediatric Endocrine Society
 

4:15pm–6:15pm
4850—Animal Models of Human Cardiopulmonary Development
PAS Topic Symposium
Chairs: Marlene Rabinovitch, Stanford University School of Medicine, Stanford, CA and Scott Baldwin, Vanderbilt University Medical Center, Nashville, TN

This symposium highlights how a variety of approaches have led to understanding how mutations in specific genes cause abnormalities in cardiopulmonary development. Our focus is on reproducing, in a transgenic animal, a genotype relevant to human disease, observing the fidelity of the phenotype and then establishing the downstream pathobiology. For example, in the case of a transcription factor mutation, the pathobiology should be evident based upon the target genes involved. When an extracellular matrix component is mutated, strategies are designed to define how this alters cellular events that cause disease.

Introduction
Marlene Rabinovitch, Stanford University School of Medicine, Stanford, CA

Molecular Building Blocks of the Heart: Implications for Congenital Hearth Disease
Deepak Srivastava, The University of Texas Southwestern Medical Center, Dallas, TX

Genes That Alter Vascular Development and Gene Therapy
Harry C. Dietz, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD

Lung and Lung Vascular Development
John M. Shannon, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

From Hop to Jump in Cardiac Development and the Genetics of Congenital Heart Disease
Jon Epstein, University of Pennsylvania, Philadelphia, PA
 

4:15pm–6:15pm
4851—Developmental Neurogenetics
PAS Topic Symposium
Chair: William Dobyns, The University of Chicago, Chicago, IL

This 2-hour symposium will review two current topics in developmental neurogenetics using both mouse and human malformations to elucidate the molecular basis of normal and abnormal brain development. The two areas covered will be midbrain–hindbrain (brainstem and cerebellum) development and nonradial migration in the forebrain. For both topics, speakers will review existing mouse models and genes known to be involved in key developmental steps, review relevant human malformations and present the results of ongoing research.

The Long and Winding Road: The Role of Gene Discovery in Human Brain Malformations
William B. Dobyns, The University of Chicago, Chicago, IL

Getting to the Roof of the Problem: Development and Malformations of the Mid-Hindbrain in Mice
Kathleen J. Millen, The University of Chicago, Chicago, IL

Getting to the Roof of Our Problem: Human Malformations of the Mid-Hindbrain
Melissa A. Parisi, University of Washington, Seattle, WA

Where Has All the GABA Gone? ARX, Malformations, Epilepsy, Mental Retardation and Pleiotropy
William B. Dobyns, The University of Chicago, Chicago, IL

Discussion
 

Monday, 5/5/2003

8:00am–10:00am
5100—Birth Defects in the Developing Countries
PAS Topic Symposium
Chair: Michael Katz, March of Dimes Birth Defects Foundation, White Plains, NY

In low- and middle-income countries where more than 80% of the world’s population lives, birth defects and other perinatal problems cause more loss of healthy years of life to early mortality and disability than almost any other condition. Yet, development of strategies for the prevention and care of birth defects has received insufficient international attention to date. The reasons for this include: a general lack of knowledge of the problem and of the considerable social and economic toll it imposes; a lack of awareness of the potential for prevention; and, as important, the absence of an international framework of mechanisms for promoting cooperative actions and solutions.

This session will present statistics on the global toll of birth defects and discuss a recent report of the U.S. Institute of Medicine commissioned to identify cost-effective opportunities for care and prevention of birth defects in developing countries. Specific recommendations for priority research, capacity building and institutional efforts to reduce adverse birth outcomes will also be discussed. The session will explore the applicability of the report’s findings to developing countries. It will also suggest what actions are required to implement appropriate public health strategies. It will conclude with a presentation on research directions for care and prevention.

Introduction
Michael Katz, March of Dimes Birth Defects Foundation, White Plains, NY

The Origin of the IOM Report: Increasing Toll of Birth Defects Worldwide: A Neglected Public Health Priority
Christopher P. Howson, March of Dimes Birth Defects Foundation, White Plains, NY

The IOM Report
Barbara J. Stoll, Emory University School of Medicine, Atlanta, GA

Perspective from a Developing Country
Arnold Christianson, National Health Laboratory Service and University of Witwatersrand, Johannesburg, South Africa

Perspective from the United States
Jeffrey C. Murray, University of Iowa Hospitals & Clinics, Iowa City, IA

Perspective from the CDC
Jose' F. Cordero, National Center on Birth Defects & Developmental Disabilities

Discussion

Sponsored jointly with the March of Dimes Birth Defects Foundation
 

8:00am–10:00am
5101—The Genetic Basis of Gastrointestinal Disease
PAS/NASPGHAN/AAP Topic Symposium
Chairs: William Berquist, NASPGHAN, Stanford University School of Medicine, Palo Alto, CA and Michael Narkewicz, AAP, University of Colorado Health Science Center, Denver, CO

Attendees of this topic symposium will learn of the exciting new advancements in understanding the genetic contributions to a variety of gastrointestinal diseases such as intractable diarrhea, Hirschsprung’s Disease and inflammatory bowel disease.

The Genetics of Intractable Diarrhea and Intestinal Failure in Infants
Martin G. Martin, University of California School of Medicine, Los Angeles, CA

Genetic Basis of Hirschsprung’s Disease: Implications in Clinical Practice
Cheryl E. Gariepy, University of Michigan Health System, Ann Arbor, MI

The Genetics of IBD: Diagnostic and Therapeutic Implications
Carmen Cuffari, Johns Hopkins Hospital, Baltimore, MD

Sponsored jointly with the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition, American Academy of Pediatrics
 

8:00am–10:00am
5102—Intrauterine Environment and Neonatal Health
PAS Topic Symposium
Chair: David P. Carlton, University of Wisconsin, Madison, WI

New information is emerging that attests to the importance of the intrauterine environment on subsequent neonatal and child health. Although premature labor is one of the most acute outcomes that result from alterations in the normal intrauterine environment, more subtle outcomes include those affecting the respiratory and central nervous systems. Dr. Alan Jobe will discuss the exciting new insights that he and his colleagues have made concerning lung function and intrauterine inflammation. Dr. Van Marter will examine the epidemiological information available that highlights the role of intrauterine inflammation and subsequent neurological development.

Overview
David P. Carlton, University of Wisconsin, Madison, WI

Intrauterine Inflammation and Neonatal Respiratory Function
Alan H. Jobe, Children's Hospital Medical Center, Cincinnati, OH

Neurological Impact of Intrauterine Inflammation
Linda J. Van Marter, Harvard Medical School, Boston, MA

Discussion
 

8:00am–10:00am
5159—Pulmonary Medicine
Original Science Abstracts - Platform Session
Moderators: Marie M. Egan and Gregory J. Redding
 

9:00am–12:00pm
5203—Family Presence for Procedures—Trying To Please Everyone
Educational Workshop
S. Selbst, K. Bradford, A. Pratt, S. Kost and A. Renwick, A.I. duPont Hospital for Children, Wilmington, DE and Jefferson Medical College, Philadelphia, PA

Family presence for procedures is a relatively new concept in pediatric medicine. Studies have shown that many parents prefer to be with their children when they undergo painful or invasive procedures. Some physicians are reluctant to accept this break with tradition and refuse to allow parents in the room. The purpose of this workshop is to develop an approach to successful procedures with parental presence. Workshop leaders (including physicians, social work, housestaff) will address critical issues such as:

  • Review of the literature—what do parents/families want?
  • What is best for the children?
  • What rights do the parents have? How about the physicians?
  • Are some situations/procedures (i.e., resuscitations) "off-limits"?
  • How can we instill confidence in trainees when the family is watching?
  • Can we preserve teaching opportunities?
  • Are there safety risks? Legal issues?
  • Enlisting the help of others: the role of liaisons, social workers, therapists

Using case scenarios and role-playing, workshop leaders will address the pros and cons of family presence for procedures. Participants will be expected to share their experiences and ideas to move forward with this "unconventional" approach to medical care. It is expected that through discussion and debate we will implement a system for success.
 

9:00am–12:00pm
5206—Navigating the Legal Waters in Clinical Medicine: A Primer for Pediatricians
Educational Workshop
J. Klig, M. Flomenbaum, L. Arnold, C. Baum, K. Bechtel, K. Santucci and M. D. Baker, Section of Pediatric Emergency Medicine, Yale-New Haven Children’s Hospital, New Haven, CT and Office of Chief Medical Examiner, New York, NY

The incidence of lawsuits in the United States continues to rise. Within this environment, pediatricians are vulnerable to litigation yet often have limited experience and information about the legal process and relevant principles of law. Legal dilemmas are particularly common in acute care settings and frequently are managed without the immediate advice of counsel. In this workshop, participants will explore basic legal issues that impact on medical practitioners, gain familiarity with the litigation process and examine strategies for testifying in court. A team of specialists in pediatric emergency medicine, malpractice issues, court testimony and forensic medicine will begin the workshop with an interactive presentation of case scenarios that highlight common statutory dilemmas, malpractice issues and the litigation process (civil and criminal). Participants will then view videotapes of court testimony and discuss strategies for testifying as a fact or expert witness. Workshop leaders and participants will conclude the session with small group discussions of individual experiences with civil or criminal proceedings and legal testimony. A complete syllabus will be provided for the workshop that is designed for use as a teaching manual.
 

10:15am–12:15pm
5350—Bone Health
PAS/LWPES Topic Symposium
Chair: Catherine Gordon, Children's Hospital, Boston, MA

Healthy bones in childhood are of vital importance, for they determine future bone health or disease in adulthood. In this symposium, recent advances in the understanding of the biology of bone formation and turnover will be discussed. Clinical disorders affecting pediatric bone health, and the assessment of their impact, will be presented. The controversial issue of whether breast-fed babies should be given supplemental vitamin D will be considered next. Finally, recent advances in the use of new anti-resorptive agents in the treatment of metabolic bone diseases of children will be presented.

Basic Biology of Bone
Gerard Karsenty, Baylor College of Medicine, Houston, TX

Disorders Affecting Pediatric Bone Health and Their Assessment
Laura K. Bachrach, Stanford University Medical Center, Stanford, CA

Is Vitamin D Supplementation Indicated in Breast–fed Infants?
Thomas O. Carpenter, Yale University School of Medicine, New Haven, CT

Bisphosphonates in the Treatment of Metabolic Bone Disease
Frank Rauch, Shriners Hospital for Children, McGill University, Montreal, Canada

Sponsored jointly with the Lawson Wilkins Pediatric Endocrine Society
 

12:15pm–1:00pm
5525—2003 Special Presentation: Responding to the Quality Crisis
PAS Special Presentation
Chair: Carden Johnston, President-elect, American Academy of Pediatrics

Overview
Carden Johnston, The Children's Hospital, Birmingham, AL

Al Aynsley-Green, National Clinical Director for Children, Department of Health, Her Majesty's Government, Nuffield Professor of Child Health, The Institute of Child Health, University College London
University of London, Director of Clinical Research & Development, Great Ormond Street Hospital for Children and The Institute of Child Health, London

Discussion

What happens when there is a public national concern about excessive poor outcomes at a Children's Medical Center? This was the scenario in Bristol, England, where a crisis in the outcome of children after cardiac surgery developed even when well–trained, committed, concerned clinicians and subspecialists were intimately involved. Because of this, Professor Al Aynsley-Green, President of the Academic Paediatricians, was appointed to the new post of National Clinical Director for Children by Parliament and to Chair a Children's Taskforce to answer the question of how can such a negative experience like this be turned into positive outcomes for children? He is charged to secure the health and well-being of all children throughout childhood into adult life by developing a National Service Framework for children's services across health, social care and education.

Lessons he has learned and experiences he has lived will be shared to help pediatricians around the world with our quest to improve the lives and health of children. The goals, activities and experiences of the Children's Taskforce, as well as six external working groups, are exportable, practical and logical. Strategies used for developing opportunities not only to improve child health at a local level but also at a national level will be discussed.

Opportunities for questions and discussion will be provided so attendees can share effective techniques to improve child life and health.

Sponsored jointly with the American Academy of Pediatrics
 

3:00pm–5:00pm
5652—Newborn Screening: Challenges and Controversies
PAS/LWPES Topic Symposium
Chair: Edward R. B. McCabe, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, Los Angeles, CA

Newborn screening programs, which have been in place for more than 40 years, are facing major challenges. Technological advances permit the addition of an increasing number of diseases, including many for which the benefits are not as clear-cut as for PKU, congenital hyperthyroidism or sickle cell disease. As pilot projects evaluate the addition of new tests, the importance of involving parents in decision-making is being actively discussed. Originally established with a "public health imperative," the predominant state model has been one of "informed dissent." Various models for informing and involving parents will be discussed, as well as their feasibility and cost. There are a number of legislative developments under consideration locally and nationally, and these will be presented and analyzed. As new diseases are considered for addition to screening batteries, it is possible to screen for disorders that have no effective interventions defined. It is clear that if we do not screen for these diseases, no improvements in care will advance. We will discuss whether such arguments justify screening. In summary, technological advances are forcing policy decisions. We will discuss the impacts of these challenges.

Overview of Newborn Screening in 2003
Edward R. B. McCabe, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, Los Angeles, CA

Parental Consent: Necessary or Sufficient?
Edward R. B. McCabe, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, Los Angeles, CA

Legislative Impacts in the Nursery
Michele Puryear, Maternal and Child Health Bureau, Health Resources & Services Administration, Rockville, MD

Should We Screen for Conditions We Can't Treat?
R. Rodney Howell, University of Miami School of Medicine, Miami, FL

Roundtable Discussion

Sponsored jointly with the Lawson Wilkins Pediatric Endocrine Society
 

3:00pm–5:00pm
5654—Vaccines–2003
PAS/PIDS Topic Symposium
Chair: Stanley A. Plotkin, Aventis Pasteur and the University of Pennsylvania, Doylestown, PA

This symposium covers four issues in vaccination. The American Academy of Pediatrics and CDC currently are moving toward a recommendation for universal annual vaccination of infants with killed or live influenza vaccine. Why is this? Now that Rotashield is off the market, a new rotavirus vaccine is needed and may be on the way. Despite good protection of children by vaccination, pertussis infections are rising in adolescents and adults. Can they be controlled? Recent disruptions in vaccine supply have caused pediatricians significant problems. What are the causes and solutions?

Universal Influenza Vaccination in Children
W. Paul Glezen, Baylor College of Medicine, Houston, TX

New Rotavirus Vaccines: After Rotashield
Paul A. Offit, Children's Hospital of Philadelphia, Philadelphia, PA

Adolescent and Adult Pertussis Vaccination
Kathryn M. Edwards, Vanderbilt University School of Medicine, Nashville, TN

Vaccine Shortages: Causes and Effects
Walter A. Orenstein, National Immunization Program, Centers for Disease Control and Prevention, Atlanta, GA

Sponsored jointly with the Pediatric Infectious Diseases Society
 

3:00pm–5:00pm
5700—Allergy, Immunology and Rheumatology
Original Science Abstracts - Platform Session
Moderators: D. Betty Lew and John W. Sleasman
 

3:00pm–5:00pm
5703—Genetics/Inborn Errors of Metabolism
Original Science Abstracts - Platform Session
Moderators: Gregory M. Enns and Adam J. Jonas
 

3:30pm–5:30pm
5750A—Genomics and Proteomics in Renal Development and Disease
ASPN Symposium
Chairs: Lisa Guay-Woodford, University of Alabama at Birmingham, Birmingham, AL and Robert H.K. Mak, Oregon Health & Science University, Portland, OR

The success of the Human Genome Project has created unparallelled opportunities for global analyses of gene expression. This approach has the potential to explain the molecular basis of development and differentiation and to identify both diagnostic and therapeutic targets for a wide array of human diseases. Furthermore, since the number of functional genes estimated from the Human Genome Project is less than expected and may not account for the complexity of biological pertubations, protein profiling may be even more informative than gene or mRNA profiling. In this symposium, we will present examples of how advances in both functional genomics and proteomics have impacted research in pediatric nephrology.

Biomarker Discovery: Integration of Genomic and Proteomic Approaches
Srinivasa R. Nagalla, Oregon Health & Science University, Portland, OR

Genomics and Proteomics in Renal Development and Disease
Sanjay Nigam, University of California, San Diego, CA

Arrays Amaze: The Many Faces of Allograft Dysfunction
Minnie Sarwal, Stanford University, Stanford, CA

Gene Expression in Ischemia
Prasad Devarajan, Cinncinnati Children's Hospital Medical Center, Cincinnati, OH

Supported by an educational grant from the Supported by the Kidney and Urology Foundation of American (KUFA)
 

Tuesday, 5/6/2003

8:00am–10:00am
6100—Genetics of Complex Disease
PAS Topic Symposium
Chair: Judith G. Hall, The University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada

Complex disorders are the subject of intense focus in human genetics research today. However, traditional molecular genetics approaches do not allow for the genetic-environmental interactions that must to be part of the any model of complex disease causation. Thus this symposium will not concentrate on SNP’s or RFLP’s or hypothetical, unproveable mathematical models, but rather the speakers will present some "out of the box" approaches that will introduce attendees to newly recognized mechanisms of disease. Each of the presenters is convinced that his or her approach will not only play an important role in complex disease processes, but may be the key that opens the Pandora's box which will lead to understanding this new area of research focus.

Introduction and Overview
Judith G. Hall, The University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada

Complex Genetics of Forebrain Development in Humans
Maximilian Muenke, National Institutes of Health, Bethesda, MD

The Genetics of Complex Disorders: Lessons from Twins
Judith G. Hall, The University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada

Epigenetics: A New Perspective on Complex Disease
Art Petronis, Centre for Addiction and Mental Health, University of Toronto, Canada

The Contribution of Mitochondrial Genetics to Common Complex Disorders
Gregory M. Enns, Stanford University Medical Center, Stanford, CA

General Discussion and Concluding Remarks
Judith G. Hall, The University of British Columbia, British Columbia's Children's Hospital, Vancouver, Canada
 

8:00am–10:00am
6125—Gastroenterology
Original Science Abstracts - Platform Session
Moderators: David A. Gremse and Michael R. Narkewicz
 

8:45am–11:45am
6204—Conflict of Interest in Pediatric Research
Educational Workshop
R. A. Etzel and J. Frader, APA Research Committee

Recent financial scandals affecting successful and respected companies have focused public attention on conflicts of interest involving corporate officers, stockholders, and customers. In the medical research world, too, recent events have raised questions about conflicts of interest affecting investigators, research subjects and patients. Examples of the latter include the financial interests of gene-transfer experimenters (the Gelsinger case at the University of Pennsylvania) and study goals versus individual subject/patient interests in the Kennedy Krieger law suit (Hopkins lead abatement study). Despite the potential pitfalls, pediatric researchers receive only perfunctory training in handling them. This workshop will provide investigators with a framework for and experience with considering real and perceived conflicts of interest in their research. We seek to provide guidance and support for investigators who need to recognize and face ethical concerns that may arise from proposed and actual research. During the workshop, we will describe potential conflicts of interest affecting: (1) individual researchers, (2) institutions (hospitals and universities), (3) research subjects/patients and (4) the public at large, including the mass media. Short presentations will set the stage for attendees to participate in role playing with a variety of scenarios and to present and discuss their own cases.
 

10:15am–11:45am
6300—Early Origins of Later Life Disease
PAS/LWPES State of the Art
Chair: Sherin U. Devaskar, University of California, Los Angeles, CA

This session will address the topic of "perinatal origins of adult disease." The three speakers will address different aspects related to the early origins of adult disease. Dr. Kent Thornburg will address the issues related to the fetal origins of adult-onset cardiovascular disease, Dr. Guiseppe Colasurdo will discuss the impact on adult-onset reactive airway disease due to postnatal exposure to environmental stimulants, and Dr. Pinchas Cohen will cover the influence of postnatal insulin-like growth factor on the development of carcinogenesis. All three speakers will shed light on the mechanisms underlying the phenomenon of "Perinatal Origins of Adult Disease" in three different disease states using various animal models. This session will provide cutting edge information that will help set the stage for future interventions targeted at the mechanisms outlined.

Fetal Origins of Later-Life Cardiovascular Disease
Kent L. Thornburg, The Heart Research Center, Oregon Health & Science University, Portland, OR

Gene–Environment Interactions in Early Life and Childhood Asthma: Search For Mechanisms
Giuseppe N. Colasurdo, University of Texas-Houston Medical School, Houston, TX

The IGF System Through Development and Its Potential Role in Carcinogenesis
Pinchas Cohen, Mattel Children's Hospital at UCLA, Los Angeles, CA

Discussion

Sponsored jointly with the Lawson Wilkins Pediatric Endocrine Society
 

10:15am–11:45am
6301—Challenges to Academic Medical Centers: Historical Perspectives and Responses
PAS State of the Art
Chair: Larry J. Shapiro, University of California, San Francisco, CA

Academic Medical Centers (AMCs) are the result of unique partnerships between medical schools, research institutes, and teaching hospitals and are among the treasures of our society. During the past century, AMCs have evolved in response to need and opportunity as well as to social and economic forces. They have made possible unprecedented advances in human health, in biological sciences, in medical technology, and in the education of a very specialized and knowledgeable cadre of scientists, physicians, and other health care professionals. In the process, AMCs have grown large and ever more complex and require continuous inputs of resources to sustain them. Despite the apparent success of AMCs and their widely appreciated intrinsic value, they are challenged as never before. The diversity and complexity of missions has created stresses upon the social order. Financial pressures resulting from a fragmented, market driven reimbursement system, lack of adequate attention to preventive services and to cost of care issues, questions about true measures of quality, ever more expensive research infrastructure requirements, changing social expectations combined with a relative illiteracy regarding science and health in the general public threaten AMCs existence as we know them. Despite fears that these factors have the potential to create a "perfect storm" that will derail the momentum for progress, a detailed understanding of AMCs history, current circumstances, and future prospects gives cause for optimism. With thoughtful leadership, commitment to values, and a willingness to lead change in many areas, AMCs can continue to thrive and achieve even greater success.

The speakers in this symposium are a practitioner of medicine and historian who has written two very widely read and highly acclaimed books about these issues, Learning to Heal and Time to Heal (Kenneth Ludmerer) and a former medical school clinician, teacher, investigator, and dean who is now one of the nations most ardent and eloquent spokespersons for AMCs in his role as president of the Association of American Medical Colleges (Jordan Cohen).

Overview
Larry J. Shapiro, University of California, San Francisco, CA

Challenges to Academic Medical Centers: Evolution, Nature and Potential Solutions
Kenneth M. Ludmerer, Washington University, St. Louis, MO

21st Century Challenges for Academic Medical Centers
Jordan J. Cohen, Association of American Medical Colleges, Washington, DC

Discussion

Supported by an educational grant from the Columbus Children's Hospital
 

12:00pm–1:30pm
Poster Session I
V
Original Science Abstracts – Poster Session

  • Dysmorphology and Teratology

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Last Updated: September 26, 2006