2022
Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
Craig M, Geng B, Wigby K, Phillips S, Bakhoum C, Naheedy J, Cernelc-Kohan M. Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report. Allergy, Asthma & Clinical Immunology 2022, 18: 15. PMID: 35189965, PMCID: PMC8862239, DOI: 10.1186/s13223-022-00655-5.Peer-Reviewed Original ResearchGrowth hormone deficiencyHormone deficiencyPI3K pathwayAnatomic abnormalitiesUnique presentationOligoarticular juvenile idiopathic arthritisCase presentationThe patientK pathwayPatient's unique presentationJuvenile idiopathic arthritisUnique clinical featuresNine-year-old boyYears of ageMild developmental delayWhole-exome sequencingMultidisciplinary collaborative approachImmune cytopeniasHip painMicroscopic hematuriaRecurrent sinusitisBilateral nephromegalyGH therapyIdiopathic arthritisClinical featuresUnclear etiology
2015
Protocol 5: Fetal Echocardiography
Copel J. Protocol 5: Fetal Echocardiography. 2015, 48-53. DOI: 10.1002/9781119001256.ch5.Chapters
2013
Surgical Approaches to the Hypoplastic Left Heart Syndrome
Gruber P, Spray T. Surgical Approaches to the Hypoplastic Left Heart Syndrome. 2013, 1787-1808. DOI: 10.1007/978-1-4471-4619-3_38.Peer-Reviewed Original ResearchHypoplastic left heart syndromeHeart syndromeCongenital heart diseaseHeart diseaseLeft ventricular hypoplasiaSlight male predominanceUniformly fatal diseaseCardiac deathMale predominanceAnatomic abnormalitiesSurgical approachVentricular hypoplasiaPalliative repairLive birthsFatal diseaseSyndromeLethal conditionFirst weekCongenital heart disease phenotypesDiseaseDisease phenotypeHypoplasiaWide spectrum
2006
Anatomic Factors in Recurrent Pregnancy Loss
Wold A, Pham N, Arici A. Anatomic Factors in Recurrent Pregnancy Loss. Seminars In Reproductive Medicine 2006, 24: 025-032. PMID: 16418975, DOI: 10.1055/s-2006-931798.Peer-Reviewed Original ResearchConceptsRecurrent pregnancy lossPregnancy lossPoor reproductive outcomesConsecutive spontaneous abortionsPreterm laborUterine anomaliesUterine defectUterine malformationsUterine septumIntrauterine adhesionsAbnormal presentationAnatomic abnormalitiesTreatment optionsAnatomic factorsSpontaneous abortionSurgical correctionReproductive outcomesAdequate treatmentCommon congenitalAccurate diagnosisContemporary diagnosisReproductive difficultiesDiagnosisWomenFibroids
2005
Late-onset dysphagia lusoria assessed by 3-dimensional computed tomography of an aortic arch abnormality
Koullias G, Korkolis D, Iams W, Elefteriades J. Late-onset dysphagia lusoria assessed by 3-dimensional computed tomography of an aortic arch abnormality. Diseases Of The Esophagus 2005, 18: 60-63. PMID: 15773845, DOI: 10.1111/j.1442-2050.2005.00449.x.Peer-Reviewed Original ResearchConceptsAberrant left subclavian arteryLeft-sided ligamentum arteriosumRight-sided aortic archLate-onset dysphagiaSymptomatic vascular ringsLeft subclavian arteryAortic arch abnormalitiesHelical CT scansArch aortogramDysphagia lusoriaSubclavian arteryIntraoperative findingsPatient's symptomsLigamentum arteriosumAnatomic abnormalitiesAortic archArch abnormalitiesVascular ringComplete decompressionCT scanComputed tomographyThree-dimensional reconstruction softwareDysphagiaSymptomsAbnormalities
2001
Sleep-Related Breathing Disorders: Current Treatment Options
Mohsenin V. Sleep-Related Breathing Disorders: Current Treatment Options. Clinical Pulmonary Medicine 2001, 8: 95-100. DOI: 10.1097/00045413-200103000-00006.Peer-Reviewed Original ResearchBreathing disordersTreatment optionsNasal continuous positive airway pressureUpper airway anatomic abnormalitiesContinuous positive airway pressureSleep-related breathing disordersPositive airway pressurePresence of comorbiditiesMandibular advancement deviceCurrent treatment optionsHealth care needsPopular treatment modalityQuality of lifeCerebrovascular complicationsOverall acceptance rateAirway pressureHigh morbidityAnatomic abnormalitiesChronic fatigueTreatment modalitiesCognitive dysfunctionPatient complianceCare needsVolume reduction techniqueRadiofrequency energy
2000
In utero diethylstilbestrol (DES) exposure alters Hox gene expression in the developing mullerian system
Block K, Kardana A, Igarashi P, Taylor H. In utero diethylstilbestrol (DES) exposure alters Hox gene expression in the developing mullerian system. The FASEB Journal 2000, 14: 1101-1108. PMID: 10834931, DOI: 10.1096/fasebj.14.9.1101.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningCell LineCycloheximideDiethylstilbestrolEstradiolFemaleGene Expression Regulation, DevelopmentalGenes, HomeoboxGenitalia, FemaleHomeodomain ProteinsHumansIn Situ HybridizationLitter SizeMaleMiceMullerian DuctsOvaryPregnancyPrenatal Exposure Delayed EffectsRNA, MessengerTeratogensUterusVaginaConceptsHox gene expressionHox genesGene expressionExpression patternsPosterior Hox genesAnterior Hox genesReproductive tractAnterior transformationAcid regulationMolecular mechanismsReproductive tract developmentGenesHOXA10 gene expressionTract developmentExpressionCell culturesMullerian systemPregnant womenAnatomic abnormalitiesFemale offspringDrug usePosterior shiftPotential markerLater stagesMorphogens
1999
New insights on the neuroanatomy of schizophrenia
Pearlson G. New insights on the neuroanatomy of schizophrenia. Current Psychiatry Reports 1999, 1: 41-45. PMID: 11122904, DOI: 10.1007/s11920-999-0009-x.Peer-Reviewed Original Research
1994
NEW DIAGNOSTIC TECHNIQUES IN THE EVALUATION OF ANATOMIC ABNORMALITIES OF THE INFERTILE MALE
Honig S. NEW DIAGNOSTIC TECHNIQUES IN THE EVALUATION OF ANATOMIC ABNORMALITIES OF THE INFERTILE MALE. Urologic Clinics Of North America 1994, 21: 417-432. PMID: 8059498, DOI: 10.1016/s0094-0143(21)00617-0.Peer-Reviewed Original ResearchConceptsMR imagingMale genital disordersInitial diagnostic testMale factor fertilityNew diagnostic imaging modalityDiagnostic imaging modalitiesMale reproductive systemNew diagnostic techniquesFluid examinationSuch patientsSurgical explorationImportant diagnostic toolAnatomic abnormalitiesDuctal anatomyDisease entityScrotal ultrasonographyGenital disordersDiagnostic maneuversBlood flowDisease processMale infertilityUseful adjunctInfertile malesTreatment planParatesticular structures
1992
Cardiovascular MR imaging: Current level of clinical activity
White R, Ehrnan R, Weinreb J. Cardiovascular MR imaging: Current level of clinical activity. Journal Of Magnetic Resonance Imaging 1992, 2: 365-370. PMID: 1627874, DOI: 10.1002/jmri.1880020319.Peer-Reviewed Original ResearchConceptsClinical activityMR imagingMagnetic resonance imaging activityThoracic aortic diseaseCongenital cardiac malformationsSurvey of SocietyRoutine clinical workAnatomic indicationsCV diseaseVentricular dysfunctionValvular dysfunctionAortic diseaseIntracardiac massAnatomic abnormalitiesClinical presenceCardiac malformationsAnatomic studyClinical sitesImaging activityClinical researchOverall frequencyGradient-echo techniqueCardiovascular MR ImagingDysfunctionDisease
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