Research teams such as Keio University, Osaka Women's and Children's Medical Center, Tokyo Metropolitan Children's Medical Center, Osaka City University, and National Center for Child Health and Development have analyzed the genome of about half of newborn illnesses that enter the intensive care unit without knowing the cause. Succeeded in clarifying with.

 According to Keio University, newborn medical care in Japan is said to be the highest level in the world, but the cause is unknown for about 1% of severely ill newborns who enter the neonatal intensive care unit.Therefore, 17 advanced perinatal medical centers nationwide, such as Keio University, formed a network and attempted genome analysis on 85 severely ill newborns whose cause could not be investigated by conventional methods.

 As a result, we found that 85 out of 41 people, about half of them, had a natural genetic disease.Of the approximately 30 billion DNAs in each case, one or two were replaced by another. Of the 1 patients, 2 had their tests and treatment policies changed, confirming that genomic analysis is useful as a medical technology.

 It has been found that newborn babies whose intestines are clogged from the time of birth and cannot receive sufficient nutrition have a weak ability to move electrolytes in and out of cells, and the intestines are easily clogged with sticky secretions.I started to gain weight with the administration of medicines that help digestion.

Paper information:[The Journal of Pediatrics] Genome analysis in sick neonates and infants: high yield phenotypes and contribution of small copy number variations

Keio University

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