Abstract

Infants with inborn errors of bile acid metabolism represent a relatively heterogeneous group of patients with a variety of clinical manifestations. They can range from neonatal cholestasis and severe liver injury in the neonate to fat-soluble vitamin deficiency and its manifestations in the older child or even end stage cirrhosis in later childhood. In addition, defects of peroxisomal metabolism of bile acids may be manifest as in peroxisomal disorders such as Zellweger syndrome or infantile adrenoleukodystrophy. Using techniques of mass spectrometry including fast atom bombardment on urine samples, electron microscopy and MRI-spectroscopy, we have evaluated a growing group of infants and children with these disorders.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR008084-07
Application #
6309930
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
Budget End
Support Year
7
Fiscal Year
2000
Total Cost
$28,540
Indirect Cost

  Institution

Name
Cincinnati Children's Hospital Medical Center
Department
Type
DUNS #
071284913
City
Cincinnati
State
OH
Country
United States
Zip Code
45229

  Publications

Natarajan, Girija; Shankaran, Seetha; Laptook, Abbot R et al. (2018) Association between sedation-analgesia and neurodevelopment outcomes in neonatal hypoxic-ischemic encephalopathy. J Perinatol 38:1060-1067
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
DiFrancesco, Mark W; Shamsuzzaman, Abu; McConnell, Keith B et al. (2018) Age-related changes in baroreflex sensitivity and cardiac autonomic tone in children mirrored by regional brain gray matter volume trajectories. Pediatr Res 83:498-505
Autmizguine, Julie; Tan, Sylvia; Cohen-Wolkowiez, Michael et al. (2018) Antifungal Susceptibility and Clinical Outcome in Neonatal Candidiasis. Pediatr Infect Dis J 37:923-929
Jilling, Tamas; Ambalavanan, Namasivayam; Cotten, C Michael et al. (2018) Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8. Pediatr Res 83:943-953
Peralta-Carcelen, Myriam; Carlo, Waldemar A; Pappas, Athina et al. (2017) Behavioral Problems and Socioemotional Competence at 18 to 22 Months of Extremely Premature Children. Pediatrics 139:
Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628
Zeller, Meg H; Pendery, Emma C; Reiter-Purtill, Jennifer et al. (2017) From adolescence to young adulthood: trajectories of psychosocial health following Roux-en-Y gastric bypass. Surg Obes Relat Dis 13:1196-1203
Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445
Shankaran, Seetha; Laptook, Abbot R; McDonald, Scott A et al. (2017) Acute Perinatal Sentinel Events, Neonatal Brain Injury Pattern, and Outcome of Infants Undergoing a Trial of Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy. J Pediatr 180:275-278.e2

Showing the most recent 10 out of 502 publications