2016
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Rosell AM, Pena LD, Schoch K, Spillmann R, Sullivan J, Hooper SR, Jiang Y, Mathey‐Andrews N, Goldstein DB, Shashi V. Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. Journal Of Genetic Counseling 2016, 25: 1019-1031. PMID: 26868367, DOI: 10.1007/s10897-016-9933-1.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLikely diagnosisParental perceptionsRetrospective semi-structured interviewsMedical careWES findingsExome sequencingParents of childrenNegative genetic testing resultsGenetic testing resultsChild's medical careRare genetic disorderClinical diagnostic categoriesParental expectationsSense of isolationParental motivationDefinite diagnosisPrimary diagnosisRare disorderSemi-structured interviewsEducational professionalsSpecific treatmentUndiagnosed disordersPossible diagnosisRecurrence risk
2015
Practical considerations in the clinical application of whole‐exome sequencing
Shashi V, McConkie‐Rosell A, Schoch K, Kasturi V, Rehder C, Jiang YH, Goldstein DB, McDonald MT. Practical considerations in the clinical application of whole‐exome sequencing. Clinical Genetics 2015, 89: 173-181. PMID: 25678066, DOI: 10.1111/cge.12569.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingClinical informationMedical genetics practiceWES resultsUtility of WESMolecular diagnostic rateClinical whole exome sequencingMedical geneticistsAdditional laboratory testsRetrospective studyDefinite diagnosisClinical dataLikely diagnosisPossible diagnosisClinical categoriesDiagnostic rateFurther laboratory testingPatientsUncertain significanceGenetic practiceDiagnosisClinical applicationFamily membersLaboratory resultsLaboratory testing
2000
Lyme Disease
Shapiro E, Gerber M. Lyme Disease. Clinical Infectious Diseases 2000, 31: 533-542. PMID: 10987718, DOI: 10.1086/313982.Peer-Reviewed Original ResearchConceptsLyme diseaseCommon vector borne diseaseSeventh cranial nerve palsyOnly nonspecific symptomsCranial nerve palsyAnnular rashNerve palsyNonspecific symptomsAseptic meningitisSymptomatic infectionFrequent manifestationCommon causeActual morbidityPossible diagnosisSerological testsMost personsDiseaseBorrelia burgdorferiSymptomsVector borne diseasesBorne diseasesFrequent useManifestationsUnited StatesCause
1996
INDEX OF SUSPICION
Colson E, Herendeen N, Szilagyi P, Bush W, Pandit S. INDEX OF SUSPICION. Pediatrics In Review 1996, 17: 319-322. DOI: 10.1542/pir.17.9.319.Peer-Reviewed Original ResearchEarly diagnosisCase 1 PresentationIndex of suspicionWell-child visitsMonths of ageUncomplicated pregnanciesBaby's lengthGeneral pediatriciansRecent illnessChild visitsSupplemental vitaminsHead circumferenceSection of PediatricsBabies' stoolsPossible diagnosisCase presentationDiagnosisPrevious visitVisitsMisleading fashionStoolSuspicionNormal growthPresentationAfrican American boysINDEX OF SUSPICION
Colson E, Herendeen N, Szilagyi P, Bush W, Pandit S. INDEX OF SUSPICION. Pediatrics In Review 1996, 17: 319-322. PMID: 8806203, DOI: 10.1542/pir.17-9-319.Peer-Reviewed Original ResearchConceptsEarly diagnosisCase 1 PresentationIndex of suspicionWell-child visitsMonths of ageUncomplicated pregnanciesBaby's lengthGeneral pediatriciansRecent illnessChild visitsSupplemental vitaminsHead circumferenceSection of PediatricsBabies' stoolsPossible diagnosisCase presentationDiagnosisPrevious visitVisitsMisleading fashionStoolSuspicionNormal growthPresentationAfrican American boys
1978
Management Strategies for Urinary and Vaginal Infections
Komaroff A, Pass T, McCue J, Cohen A, Hendricks T, Friedland G. Management Strategies for Urinary and Vaginal Infections. JAMA Internal Medicine 1978, 138: 1069-1073. PMID: 666465, DOI: 10.1001/archinte.1978.03630320013008.Peer-Reviewed Original ResearchConceptsVaginal infectionsEfficient clinical strategyPrimary care clinicsDiagnosis of UTIDiagnosis of vaginitisCare clinicsUrine culturePhysical examinationUrinary tractPelvic examinationClinical dataExclusive diagnosisPossible diagnosisUTIClinical strategiesDetailed historyPatientsVaginitisDiagnosisUrinalysisTwo-year periodInfectionExaminationDysuriaUrinary
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