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Genotypes And Phenotypes In Children With Short Stature: Clinical Indicators Of Shox Haploinsufficiency, Gudrun Rappold, Werner F. Blum, Elena P. Shavrikova, Brenda J. Crowe, Ralph Roeth, Charmian A. Quigley, Judith L. Ross, Beate Niesler

Department of Pediatrics Faculty Papers

Background: Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic features to Léri-Weill syndrome, and with no functional copy of the SHOX gene, Langer syndrome.

Methods: To characterise the clinical and molecular spectrum of SHOX deficiency in childhood we assessed …

Higher Self-Reported Physical Activity Is Associated With Lower Systolic Blood Pressure: The Dietary Intervention Study In Childhood (Disc) , Samuel S. Gidding, Bruce A. Barton, Joanne A. Dorgan, Sue Y.S. Kimm, Peter O. Kwiterovich, Normal L. Lasser, Alan M. Robson, Victor J. Stevens, Linda Van Horn, Denise G. Simons-Morton

Department of Pediatrics Faculty Papers

Objective: Children participating in a dietary clinical trial were studied to assess physical activity patterns in boys and girls longitudinally from late childhood through puberty; and to determine the association of level of physical activity on systolic blood pressure (SBP), low density lipoprotein (LDL) cholesterol, and body mass index (BMI).

Patients and Methods: In the Dietary Intervention Study in Childhood (DISC), a randomized clinical trial of a reduced saturated fat and cholesterol diet in 8-10 year olds with elevated LDL, a questionnaire that determined time spent in five intensity levels of physical activity was completed at baseline and …

Causes And Mechanisms, An Interview With Dr. Jeremiah Stamler, Samuel S. Gidding

Department of Pediatrics Faculty Papers

Dr. Jeremiah Stamler began his career in New York City and moved to Chicago in 1947 with his wife Rose, to accept a basic research position with Dr. Louis N. Katz. Early animal studies convinced him of the role of dietary factors, particularly cholesterol and salt, in the etiology of atherosclerotic vascular disease. Because of a strong interest in public health, he began the first of many population based cohort studies in the 1950s that subsequently defined the role of health behaviors (adverse nutrition choices, tobacco use, low physical activity) and associated measurable biologic traits, now called risk factors, in …

Increasing Illness Severity In Very Low Birth Weight Infants Over A 9-Year Period, David A. Paul, Kathleen H. Leef, Robert G. Locke, Louis Bartoshesky, Judy Walrath, John L. Stefano

Department of Pediatrics Faculty Papers

Background: Recent reports have documented a leveling-off of survival rates in preterm infants through the 1990's. The objective of this study was to determine temporal changes in illness severity in very low birth weight (VLBW) infants in relationship to the outcomes of death and/or severe IVH.

Methods: Cohort study of 1414 VLBW infants cared for in a single level III neonatal intensive care unit in Delaware from 1993-2002. Infants were divided into consecutive 3-year cohorts. Illness severity was measured by two objective methods: the Score for Neonatal Acute Physiology (SNAP), based on data from the 1st day of …