Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024591 (
malignant hyperthermia
)
2,353
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient's father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient's respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent
malignant hyperthermia
. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a
COL1A1
/COL1A2
mutation.
...
PMID:Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta. 3123 76
