FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4207049394> ?p ?o ?g. }

• W4207049394 endingPage "e1931" @default.
• W4207049394 startingPage "e1924" @default.
• W4207049394 abstract "There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology.This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin.Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology.A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P < .0001, area under the receiver operating characteristic curve: .96, .88, and .87, respectively). Plasma cortisol of less than 4 ng/mL, cortisone of less than 11 ng/mL, and corticosterone of less than 0.11 ng/mL had a greater than 95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology.Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES." @default.
• W4207049394 created "2022-01-26" @default.
• W4207049394 creator A5007331304 @default.
• W4207049394 creator A5010426865 @default.
• W4207049394 creator A5012383812 @default.
• W4207049394 creator A5013512933 @default.
• W4207049394 creator A5013563425 @default.
• W4207049394 creator A5016229970 @default.
• W4207049394 creator A5024308636 @default.
• W4207049394 creator A5024425523 @default.
• W4207049394 creator A5025544680 @default.
• W4207049394 creator A5032635247 @default.
• W4207049394 creator A5033579941 @default.
• W4207049394 creator A5034629033 @default.
• W4207049394 creator A5040838059 @default.
• W4207049394 creator A5043572032 @default.
• W4207049394 creator A5061415720 @default.
• W4207049394 creator A5063065558 @default.
• W4207049394 creator A5066249584 @default.
• W4207049394 creator A5068859571 @default.
• W4207049394 creator A5074886036 @default.
• W4207049394 creator A5080435623 @default.
• W4207049394 creator A5081146512 @default.
• W4207049394 creator A5086670130 @default.
• W4207049394 creator A5017729581 @default.
• W4207049394 date "2022-01-13" @default.
• W4207049394 modified "2023-10-18" @default.
• W4207049394 title "Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency" @default.
• W4207049394 cites W1796122241 @default.
• W4207049394 cites W1970413157 @default.
• W4207049394 cites W1983428384 @default.
• W4207049394 cites W2026730238 @default.
• W4207049394 cites W2051978340 @default.
• W4207049394 cites W2059145105 @default.
• W4207049394 cites W2072840521 @default.
• W4207049394 cites W2116026368 @default.
• W4207049394 cites W2137886330 @default.
• W4207049394 cites W2157987252 @default.
• W4207049394 cites W2399654760 @default.
• W4207049394 cites W2586014577 @default.
• W4207049394 cites W2620055756 @default.
• W4207049394 cites W2772744487 @default.
• W4207049394 cites W2807187912 @default.
• W4207049394 cites W2898906372 @default.
• W4207049394 cites W2947234008 @default.
• W4207049394 cites W2949857618 @default.
• W4207049394 cites W2969322296 @default.
• W4207049394 cites W2981115644 @default.
• W4207049394 cites W2998887037 @default.
• W4207049394 cites W3110524250 @default.
• W4207049394 cites W3111162039 @default.
• W4207049394 cites W3148805936 @default.
• W4207049394 cites W3150392132 @default.
• W4207049394 cites W3162238749 @default.
• W4207049394 cites W3179652883 @default.
• W4207049394 cites W3195926332 @default.
• W4207049394 cites W3200451446 @default.
• W4207049394 cites W4210957922 @default.
• W4207049394 doi "https://doi.org/10.1210/clinem/dgac016" @default.
• W4207049394 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35028661" @default.
• W4207049394 hasPublicationYear "2022" @default.
• W4207049394 type Work @default.
• W4207049394 citedByCount "3" @default.
• W4207049394 countsByYear W42070493942022 @default.
• W4207049394 countsByYear W42070493942023 @default.
• W4207049394 crossrefType "journal-article" @default.
• W4207049394 hasAuthorship W4207049394A5007331304 @default.
• W4207049394 hasAuthorship W4207049394A5010426865 @default.
• W4207049394 hasAuthorship W4207049394A5012383812 @default.
• W4207049394 hasAuthorship W4207049394A5013512933 @default.
• W4207049394 hasAuthorship W4207049394A5013563425 @default.
• W4207049394 hasAuthorship W4207049394A5016229970 @default.
• W4207049394 hasAuthorship W4207049394A5017729581 @default.
• W4207049394 hasAuthorship W4207049394A5024308636 @default.
• W4207049394 hasAuthorship W4207049394A5024425523 @default.
• W4207049394 hasAuthorship W4207049394A5025544680 @default.
• W4207049394 hasAuthorship W4207049394A5032635247 @default.
• W4207049394 hasAuthorship W4207049394A5033579941 @default.
• W4207049394 hasAuthorship W4207049394A5034629033 @default.
• W4207049394 hasAuthorship W4207049394A5040838059 @default.
• W4207049394 hasAuthorship W4207049394A5043572032 @default.
• W4207049394 hasAuthorship W4207049394A5061415720 @default.
• W4207049394 hasAuthorship W4207049394A5063065558 @default.
• W4207049394 hasAuthorship W4207049394A5066249584 @default.
• W4207049394 hasAuthorship W4207049394A5068859571 @default.
• W4207049394 hasAuthorship W4207049394A5074886036 @default.
• W4207049394 hasAuthorship W4207049394A5080435623 @default.
• W4207049394 hasAuthorship W4207049394A5081146512 @default.
• W4207049394 hasAuthorship W4207049394A5086670130 @default.
• W4207049394 hasBestOaLocation W42070493941 @default.
• W4207049394 hasConcept C126322002 @default.
• W4207049394 hasConcept C134018914 @default.
• W4207049394 hasConcept C137627325 @default.
• W4207049394 hasConcept C2777767042 @default.
• W4207049394 hasConcept C2778129406 @default.
• W4207049394 hasConcept C2780484280 @default.
• W4207049394 hasConcept C2911038130 @default.
• W4207049394 hasConcept C71315377 @default.

• next