Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.

BACKGROUND: Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the NTD and lead to a spectrum of physical and neurocognitive phenotypes. METHODS: A multidisciplinary approach has been taken to develop a comprehensive understanding of MM through collaborative efforts from investigators specializing in genetics, development, brain imaging, and neurocognitive outcome. Patients have been recruited from five different sites: Houston and the Texas-Mexico border area; Toronto, Canada; Los Angeles, California; and Lexington, Kentucky. Genetic risk factors for MM have been assessed by genotyping and association testing using the transmission disequilibrium test. RESULTS: A total of 509 affected child/parent trios and 309 affected child/parent duos have been enrolled to date for genetic association studies. Subsets of the patients have also been enrolled for studies assessing development, brain imaging, and neurocognitive outcomes. The study recruited two major ethnic groups, with 45.9% Hispanics of Mexican descent and 36.2% North American Caucasians of European descent. The remaining patients are African-American, South and Central American, Native American, and Asian. Studies of this group of patients have already discovered distinct corpus callosum morphology and neurocognitive deficits that associate with MM. We have identified maternal MTHFR 667T allele as a risk factor for MM. In addition, we also found that several genes for glucose transport and metabolism are potential risk factors for MM. CONCLUSIONS: The enrolled patient population provides a valuable resource for elucidating the disease characteristics and mechanisms for MM development.

EFFECT OF ANCHORING ON PERCEIVED AMNIOCENTESIS RELATED MISCARRIAGE RISK WITHIN A LATINA POPULATION

Most recognized pregnancies are completed without difficulty, yet there is always a 3-5% background risk to have a child with a birth defect. Amniocentesis, the most common type of prenatal diagnostic test, is used to detect chromosomal abnormalities, such as Down syndrome. Amniocentesis is associated with a risk of complications that can lead to a miscarriage, which is typically quoted to be between 1 in 300 and 1 in 500. Amniocentesis uptake rates are typically lowest within the Latina community, and although the factors related to this have been studied before, no specific conclusions have been reached. The general population has a difficult time interpreting risks, as individuals vary in numeracy skills as well as personal factors that can influence risk perception. A recent study by Nuccio (2010) investigated the effect of anchoring, where a patient’s prior knowledge about a subject affects her risk perception, and how it relates to the uptake of amniocentesis within a diverse population in Houston, TX. The effect of anchoring on perceived amniocentesis-related miscarriage risk within the Latina population has not been previously examined. A two-part questionnaire was completed by 96 Latinas receiving prenatal genetic counseling due to an increased risk to have a baby with a chromosome abnormality at various clinics in Houston, TX. The genetic counselor involved in the session completed a separate survey. This population was largely unfamiliar with surveys, risk figures, and prenatal testing. Only one individual was able to quantify the risk associated with amniocentesis prior to the genetic counseling. While the majority of women felt that the risk association with amniocentesis is very low to average, only 7 individuals pursued diagnostic testing through amniocentesis. Most women did not feel like the information gained from an amniocentesis would change the management of their pregnancy and/or they did not believe that their baby had a problem. Women, regardless of ethnicity, deserve individualized genetic counseling sessions that cater to their needs and desires regarding their prenatal care.

Natural history study of arthrogryposis multiplex congenita, amyoplasia type

Arthrogryposis or Arthrogrypsosis Multiplex Congenita (AMC) are terms used to describe the clinical finding of multiple congenital contractures. There are more than 300 distinct disorders associated with arthrogryposis. Amyoplasia is the most common type of arthrogryposis and is often referred to as the “classic” type. There is no known cause of amyoplasia and no risk factors have been identified. Moreover, there is no established diagnostic criteria, which has led to inconsistency and confusion in the medical literature. The purpose of this study was to describe the natural history of amyoplasia, to determine if there are any identifiable risk factors and develop a list of diagnostic criteria. A retrospective chart review of 59 children with arthrogryposis ascertained at the Shriners Hospitals for Children in Houston, Texas was performed and included the following information: prenatal, birth, and family histories, and phenotypic descriptions. Forty-four children were identified with amyoplasia and 15 children with other multiple congenital contractures and other anomalies (MCC) were used as a comparison group. With the exception of abnormal amniotic fluid levels during pregnancy, there were no significant demographic or prenatal risk factors identified. However, we found common features that discriminate amyoplasia from other types of arthrogryposis and developed a diagnostic checklist. This checklist can be used as diagnostic criteria for discriminating amyoplasia from isolated and multiple contracture conditions.

History of Medicine Schedule 2010-2011

William Osler (1849-1919): America’s Most Famous Physician (Robert E. Rakel) The Assassination of John F. Kennedy: A Neurosurgeon’s Eyewitness Account of the Medical Aspect of the Events of November 22, 1963 (Robert G. Grossman) Making Cancer History: Disease and Discovery at the University of Texas M.D. Anderson Cancer Center (James S. Olson) The History of Pathology as a Biological Science and Medical Specialty (L. Maximillian Buja) “Medicine in the Mid-19th Century America” (Student Essay Contest Winner) (David Hunter) The Achievements and Enduring Relevance of Rudolph Virchow (Nathan Grohmann) Medicine: Perspectives in History and Art (Robert E. Greenspan) What Every Physician Should Know: Lessons from the Past (Robert E. Greenspan) Medicine in Ancient Mesopotamia (Sajid Haque) The History of Texas Children’s Hospital (B. Lee Ligon) Visualizing Disease: Motion Pictures in the History of Medical Education (Kirsten Ostherr)

Baylor History of Medicine Society Schedule 2007-2008

"Medicine: Perspectives in History and Art" (Robert E. Greenspan) Eight Practical Lessons from Osler That Will Better Your Life (Bryan Boutwell) History of the American Mental Hospital: From networking to not working & Back (Ed Fann) Ambiguities and Amputations: Methods, mishaps, and the surgical quest to cure breast cancer (Student Essay Contest Winner) (Matt Luedke) An Automated, Algorithmic, Retrospective Analysis of the Growing Influence of Statistics in Medicine (Student Essay Contest Winner) (Ryan Rochat) What’s Special about William Osler? (Charles S. Bryan) The Virtuous Physician: Lessons from Medical Biography (Charles S. Bryan) Legacy: 50 Years of Loving Care – The History of Texas Children’s Hospital, 1954-2004 (Betsy Parish) The Education of a University President: Edgar Odell Lovett of Rice University (John B. Boles) Artists and Illness: The Effect of Illness on an Artist’s Work (David Bybee)

Baylor History of Medicine Society Schedule 2006-2007

After Western Medicine: From Hippocrates to Xavier Bichat (H. Tristram Engelhardt, Jr.) Who Goes First? The Story of Self-Experimentation in Medicine (David Sears, M.D.) Exercise and Health: From Pre-History to the Present (Carlos Valbonna, M.D.) Supernaturalism to Rationalism and the Man Between (Student Essay Contest Winners) (Don Lassus) The Fog of War’s Silver Lining: The Lasting Impact of Military Medicine (Student Essay Contest Winners) (Ajit Vyas) From Drummers to Detail Men: Medicine and the pharmaceutical industry in the United States, 1900-1960 (Howard Brody) Eyewash and Thunderbolts: The Medical Adventures of Lewis and Clark (Herbert M. Swick) Angry Arrows and Satin Dresses: Tales from the Annals of Plague (Herbert M. Swick) The Greatest Books in the History of Neurology (Robert Gordon) Franklin Delano Roosevelt’s Paralytic Illness: What was the cause? (Armond S. Goldman)

History of Medicine Schedule and Abstracts 2009-2010

From Genes to Genome: An historical perspective (David Wheeler) Ignaz Semmelweis: Medical Prophet Without Honor (Ronald L. Young) Why Lewis Thomas, MD is Not a Bore: The Life of a Biology Watcher (Steven Greenberg) Doctors from Hell: The Horrific Account of Nazi Experiments on Humans (Vivien Spitz) Illuminating Autism: Passing the Torch from the Twentieth Century (Student Essay Contest Winners) (Lynn Yudofsky) Healing Beyond Hippocrates: The Temples of Asclepius and Public Health Care in Ancient Greece (Andrew Baldwin) Iron Wills and Iron Lungs: The Polio Years in Texas (Heather Green Wooten) William Osler and the Inspirational Uses of History (Michael Bliss) Working Too Hard and Achieving Too Much: The Cost of Being Harvey Cushing (Michael Bliss) Medicine in Ancient Egypt (Gene Boisaubin) The History of Diabetes (Jeff Unger)

Caring Minds

Honoring a Leader 25th Anniversary Symposium Four Investments in Innovation --Accelerated Ph.D. Campaign --House Bill 4471 Aids Nursing --“Pacesetter” Model --John S. Dunn Research Foundation Gift Fabulous from the Start PARTNERS Luncheon Robert Wood Johnson Foundation Executive Nurse Fellow Alumni News Faculty Scholarship

Caring Minds

DEAN’S MESSAGE CELEBRATING 35 YEARS AKERS SCHOLARSHIP ENDOWMENT NANCY B. WILLERSON ENDOWED PROFESSORSHIP PARTNERS LUNCHEON UT PARTNERS WITH ALDINE ISD THE FUTURE IS HERE RETIRED PHYSICIANS SHARE YEARS OF KNOWLEDGE CARING FOR BABIES RESEARCH STARS CENTER ON AGING VIDEOS/ALUMNI NEWS FACULTY SCHOLARSHIP

Caring Minds

Greetings from Dean Patricia Starck New DNP program explores new frontiers of nursing Profile Joanne V. Hickey, PhD, APRN, BC, ACNP, FAAN, FCCM With assistance from PARTNERS scholarship, Family Practice Nurse pursues her dream through new DNP program School of Nursing offers training in geriatrics for nurses PARTNERS organization endows first professorship University of Texas Health Services planning to expand number of clinics Caring Leaders The Engine of Innovation: School of Nursing researchers part of $36 million NIH grant to spur innovation Johnson and Johnson gala spotlights nurses Chad and Heath LePray UT School of Nursing and Memorial Hermann Hospital create partnership with Chief of Advanced Practice position A Tribute to Frank Cole Faculty Scholarship Endowed Faculty Positions

Caring Minds

Welcome from Dean Patricia Starck The Face of Health Care Leading Technology School of Nursing Collaborates to Initiate Texas Medical Center’s First Digital Repository Nursing Research, A Growing Field Nursing in the Wake of the Storm Profile: Huaping Liu, RN, PhD, Dean and Associate Professor, School of Nursing at Peking Union Medical College Newsbrief: Planning for the Future with a New Doctor of Nursing Practice Program in Fall 2006 Newsbrief: Fast Track Nursing Program Gives Students a Speedy Start Profile: Susan Bankston, RN, BSN, Psychiatric Nursing, Currently enrolled in the MSN to DSN track Newsbrief: University of Texas Health Services Reports Outstanding Achievements in FY’05 Student Grants Newsbrief: New Degree Program Develops Leadership and Business Skills for Today’s Nurses Profile: Pamela Klauer Triolo, PhD, RN, FAAN Clinical Professor of Nursing Director, Nursing Leadership and Administration in Health Systems Newsbrief: Successful Luncheon Completes $1 Million Endowment UT School of Nursing Building Recognized as Blending Form and Function Faculty Scholarship Endowed Faculty Positions

Caring Minds

Greetings Biobank and Centers model collaboration – Enable work of young researchers AccPhD Scholars Find First Year Exciting, Challenging Event Salutes AccPhD Donors Fay named to UT System’s Academy of Health Science Education PARTNERS Luncheon – Opera star hails nurses as “Beautiful Angels” at 2011 PARTNERS Spring Luncheon Hodges Voted School’s 2011 McGovern Outstanding Teacher Graduates soar– Steady growth and success of DNP program follows being first in Texas Reception honors Freds “Best Graduate Schools” – Guide ranks UTHealth tops in Texas/Newsbriefs Faculty Publications Faculty Research Endowed Faculty Positions