首页|Findings from Oregon Health & Science University (OHSU) Provides New Data on Rare Diseases and Conditions (Automatically Pre-screening Patients for the Rare Disease Aromatic <sc>l</sc>-amino Acid Decarboxylase Deficiency Using Knowledge ...)
Findings from Oregon Health & Science University (OHSU) Provides New Data on Rare Diseases and Conditions (Automatically Pre-screening Patients for the Rare Disease Aromatic <sc>l</sc>-amino Acid Decarboxylase Deficiency Using Knowledge ...)
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
NETL
NSTL
Oxford Univ Press
Current study results on Rare Diseases and Conditions have been published. According to news reporting originating from Portland, Oregon, by NewsRx correspondents, research stated, “Electronic health record (EHR) data may facilitate the identification of rare diseases in patients, such as aromatic l-amino acid decarboxylase deficiency (AADCd), an autosomal recessive disease caused by pathogenic variants in the dopa decarboxylase gene. Deficiency of the AADC enzyme results in combined severe reductions in monoamine neurotransmitters: dopamine, serotonin, epinephrine, and norepinephrine.” Financial support for this research came from PTC Therapeutics, South Plain-field, New Jersey, USA. Our news editors obtained a quote from the research from Oregon Health & Science University (OHSU), “This leads to widespread neurological complications affecting motor, behavioral, and autonomic function. The goal of this study was to use EHR data to identify previously undiagnosed patients who may have AADCd without available training cases for the disease. A multiple symptom and related disease annotated dataset was created and used to train individual concept classifiers on annotated sentence data. A multistep algorithm was then used to combine concept predictions into a single patient rank value. Using an 8000- patient dataset that the algorithms had not seen before ranking, the top and bottom 200 ranked patients were manually reviewed for clinical indications of performing an AADCd diagnostic screening test. The top-ranked patients were 22.5% positively assessed for diagnostic screening, with 0% for the bottom-ranked patients. This result is statistically significant at P＜.0001.”
PortlandOregonUnited StatesNorth and Central AmericaAmino AcidsCyborgsDecarboxylaseEmerging TechnologiesEngineeringEnzymes and CoenzymesHealth and MedicineKnowledge EngineeringMachine LearningNatural Language ProcessingPeptidesProteinsRare Diseases and ConditionsOregon Health & Science University (OHSU)
NETL
NSTL
Oxford Univ Press
