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[Molecular biology as a diagnostic tool in the newborn Emergency department: a rare case of idiopathic infantile arterial calcification].
- Source :
-
Giornale italiano di cardiologia (2006) [G Ital Cardiol (Rome)] 2016 Mar; Vol. 17 (3), pp. 234-6. - Publication Year :
- 2016
-
Abstract
- A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme.
- Subjects :
- Arteries pathology
Biomarkers blood
Fatal Outcome
Female
Humans
Infant
Rare Diseases
Vascular Calcification genetics
Cardiopulmonary Resuscitation adverse effects
Emergency Service, Hospital
Heart Arrest etiology
Mutation
Phosphoric Diester Hydrolases genetics
Pyrophosphatases genetics
Vascular Calcification complications
Vascular Calcification diagnosis
Subjects
Details
- Language :
- Italian
- ISSN :
- 1827-6806
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Giornale italiano di cardiologia (2006)
- Publication Type :
- Academic Journal
- Accession number :
- 27029882
- Full Text :
- https://doi.org/10.1714/2190.23670