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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Macnamara, Ellen F; Loydpierson, Amelia; Latour, Yvonne L; D'Souza, Precilla; Murphy, Jennifer; Wolfe, Lynne; Estwick, Tyra; Johnston, Jean M; Yang, John; Acosta, Maria T; Lee, Paul R; Pierson, Tyler Mark; Soldatos, Ariane; Toro, Camilo; Markello, Tom; Adams, David R; Gahl, William A; Yousef, Muhammad; Tifft, Cynthia J.
Affiliation
  • Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Loydpierson A; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; University of North Carolina School of Medicine, Chapel Hill, NC, United States of America.
  • Latour YL; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, United States of America; Department of Pathology, Immunology, and Microbiology, Vanderbilt University, Nashville, TN, United States of America.
  • D'Souza P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia.
  • Murphy J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Hummingbird House Children's Hospice, 60 Curwen Terrace, Chermside, Queensland 4032, Australia.
  • Wolfe L; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Estwick T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, United States of America.
  • Johnston JM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Yang J; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Acosta MT; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Lee PR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Division of Neurology 2, Office of Neuroscience, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, United States of
  • Pierson TM; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; Departments of Pediatrics and Neurology & The Board of Governors, Regenerative Medicine Institute and the Cedars Sinai Center for the Undiagnosed Patient,
  • Soldatos A; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, United States of America.
  • Toro C; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Markello T; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Adams DR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America.
  • Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America.
  • Yousef M; National Institutes of Health Clinical Center, Department of Perioperative Medicine, Pediatric Anesthesiology, Bethesda, MD, United States of America.
  • Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, United States of America; National Human Genome Research Institute, NIH, Bethesda, MD, United States of America. Electronic address: cynthiat@mail.nih.gov.
Mol Genet Metab ; 140(3): 107707, 2023 11.
Article in En | MEDLINE | ID: mdl-37883914
ABSTRACT

PURPOSE:

The NIH Undiagnosed Diseases Program (UDP) aims to provide diagnoses to patients who have previously received exhaustive evaluations yet remain undiagnosed. Patients undergo procedural anesthesia for deep phenotyping for analysis with genomic testing.

METHODS:

A retrospective chart review was performed to determine the safety and benefit of procedural anesthesia in pediatric patients in the UDP. Adverse perioperative events were classified as anesthesia-related complications or peri-procedural complications. The contribution of procedures performed under anesthesia to arriving at a diagnosis was also determined.

RESULTS:

From 2008 to 2020, 249 pediatric patients in the UDP underwent anesthesia for diagnostic procedures. The majority had a severe systemic disease (American Society for Anesthesiology status III, 79%) and/or a neurologic condition (91%). Perioperative events occurred in 45 patients; six of these were attributed to anesthesia. All patients recovered fully without sequelae. Nearly half of the 249 patients (49%) received a diagnosis, and almost all these diagnoses (88%) took advantage of information gleaned from procedures performed under anesthesia.

CONCLUSIONS:

The benefits of anesthesia involving multiple diagnostic procedures in a well-coordinated, multidisciplinary, research setting, such as in the pediatric UDP, outweigh the risks.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases / Anesthesia / Anesthesiology Limits: Child / Humans Country/Region as subject: America do norte Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Undiagnosed Diseases / Anesthesia / Anesthesiology Limits: Child / Humans Country/Region as subject: America do norte Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2023 Type: Article Affiliation country: United States