2025
Recent advances in the management of pediatric cholestatic liver diseases
Mysore K, Cheng K, Suri L, Fawaz R, Mavis A, Kogan‐Liberman D, Mohammad S, Taylor S. Recent advances in the management of pediatric cholestatic liver diseases. Journal Of Pediatric Gastroenterology And Nutrition 2025 PMID: 39840645, DOI: 10.1002/jpn3.12462.Peer-Reviewed Original ResearchPediatric cholestatic liver diseasesCholestatic liver diseaseIleal bile acid transporterAlagille syndromeSlow disease progressionLiver diseaseBile acid transporterMedical therapyIleal bile acid transporter inhibitorClinical trialsDisease progressionProgressive familial intrahepatic cholestasisFamilial intrahepatic cholestasisPediatric liver transplantationBile acid toxicityCurative medical therapyAcid transportImprove patient qualityIntrahepatic cholestasisBiliary atresiaSurgical managementRare conditionLiver transplantationNutritional supportUnderlying etiology
2024
Renovascular hypertension – a primer for the radiologist
Dixe de Oliveira Santo I, Sindoni J, Czeyda-Pommersheim F, Solomon N, Sailer A, Bhatt S, Fananapazir G, Pellerito J, Revzin M. Renovascular hypertension – a primer for the radiologist. Abdominal Radiology 2024, 1-13. PMID: 39542950, DOI: 10.1007/s00261-024-04677-y.Peer-Reviewed Original ResearchRenovascular hypertensionRenal arteryCause of renovascular hypertensionComputed tomography angiographyMagnetic resonance angiographyDiagnosing RVHExtrinsic compressionSecondary hypertensionRare conditionImaging findingsPolyarteritis nodosaSurgical interventionFibromuscular dysplasiaAnatomical variantsPage kidneyPictorial reviewHypertension casesAccurate diagnosisMedical managementDiagnostic criteriaTreatment approachesImaging modalitiesHypertensionImpact diagnosisYoung femalesEmergent responsive neurostimulation in pediatric super‐refractory epilepsia partialis continua
Hadar P, Nanda P, Walsh K, McLaren J, Geffrey A, Simon M, Kahle K, Richardson R, Chu C. Emergent responsive neurostimulation in pediatric super‐refractory epilepsia partialis continua. Annals Of Clinical And Translational Neurology 2024, 11: 3320-3327. PMID: 39540465, PMCID: PMC11651186, DOI: 10.1002/acn3.52199.Peer-Reviewed Original ResearchMassive thymic hyperplasia in a toddler masquerading as a loculated pleural effusion: A case report
Zolfaghari E, Shaughnessy M, Wu H, Caty M, Christison-Lagay E, Hornick M. Massive thymic hyperplasia in a toddler masquerading as a loculated pleural effusion: A case report. Journal Of Pediatric Surgery Case Reports 2024, 110: 102885. DOI: 10.1016/j.epsc.2024.102885.Peer-Reviewed Original ResearchMassive thymic hyperplasiaChest X-rayThymic hyperplasiaCase reportComputed tomographyDifferential diagnosis of pediatric patientsSurveillance chest x-raysDiagnosis of pediatric patientsTrue thymic hyperplasiaRecurrent respiratory distressPost-operative coursePercutaneous core biopsyLoculated pleural effusionHistory of multiple admissionsPersistent respiratory symptomsSurgical resectionCore biopsyParapneumonic effusionPediatric patientsAbnormal findingsPleural effusionRight thoracotomyRare conditionRight hemithoraxSuspected pneumoniaACQUIRED ANGIOEDEMA: THE GREAT IMITATOR
Mathew M, Liao J, Zidan E, Hsu F, Belmont A. ACQUIRED ANGIOEDEMA: THE GREAT IMITATOR. Annals Of Allergy Asthma & Immunology 2024, 133: s136. DOI: 10.1016/j.anai.2024.08.560.Peer-Reviewed Original ResearchAAE-C1-INHEmergency departmentAcquired angioedema due to C1-inhibitor deficiencyAngioedema due to C1-inhibitor deficiencySplenic marginal zone lymphomaAssociated with lymphoproliferative disordersFatal laryngeal edemaMarginal zone lymphomaC1 inhibitor deficiencyLocal anesthetic allergyBradykinin-mediated angioedemaDelayed onset symptomsDrug allergy testingDuration of swellingRecombinant C1 inhibitorInitial rituximabEyelid swellingInhibitor deficiencyLow C4Lymphoproliferative disordersDental proceduresAbortive therapyRecurrent episodesRare conditionLaryngeal edemaAntisense oligonucleotides and their applications in rare neurological diseases
McDowall S, Aung-Htut M, Wilton S, Li D. Antisense oligonucleotides and their applications in rare neurological diseases. Frontiers In Neuroscience 2024, 18: 1414658. PMID: 39376536, PMCID: PMC11456401, DOI: 10.3389/fnins.2024.1414658.Peer-Reviewed Original ResearchAntisense oligonucleotidesRare diseaseImpaired quality of lifeDuchenne muscular dystrophyRare neurological diseasesNeurological diseasesClinical trial designSpinal muscular atrophyRare conditionApplication of antisense oligonucleotidesHigh treatment costsTherapeutic antisense oligonucleotidesClinical trialsAnimal modelsMuscular dystrophyEffective treatmentQuality of lifeImpaired qualityMuscular atrophyAntisense oligomersTrial designTherapeutic validityTarget gene expressionDiseaseTreatment costsSimilarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults
Diesler R, Legendre M, Si‐Mohamed S, Brillet P, Wemeau L, Manali E, Gagnadoux F, Hirschi S, Lorillon G, Reynaud‐Gaubert M, Bironneau V, Blanchard E, Bourdin A, Dominique S, Justet A, Macey J, Marchand‐Adam S, Morisse‐Pradier H, Nunes H, Papiris S, Traclet J, Traore I, Crestani B, Amselem S, Nathan N, Borie R, Cottin V, network T. Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. Respirology 2024, 29: 312-323. PMID: 38345107, DOI: 10.1111/resp.14667.Peer-Reviewed Original ResearchConceptsInterstitial lung diseaseChest computed tomographyGround-glass opacitiesInterstitial pneumoniaFibrosing ILDsMulticentre retrospective studyConsecutive adult patientsNonspecific interstitial pneumoniaMedian FVCChest CTMedian timeRadiological patternsClinical characteristicsLung transplantationRare conditionRetrospective studyAdult patientsHistological patternComputed tomographyFollow-upPathogenic variantsLung diseaseSFTPCABCA3PatientsAnesthesia for Rare Fetal and Placental Conditions
Ferschl M, Rollins M. Anesthesia for Rare Fetal and Placental Conditions. 2024, 456-468. DOI: 10.1017/9781009070256.029.Peer-Reviewed Original ResearchManagement of pregnant womenObstetric care providersObstetric anesthesiologistPlacental conditionsObstetric anesthetistsRare inherited conditionsPregnant womenRare conditionCare providersCase reportManagement guidelinesSubstance abuseRevised third editionClinical insightsAnesthesiaVisual aidsThird EditionTeam of editorsPerinatologistsFetalCaregivers
2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller R, Berg T, Patterson I, Griffiths W, Sayer J, Consortium G, Ambrose J, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C, Brittain H, Caulfield M, Chan G, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S, Leong I, Lopez J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A, O’Donovan P, Odhams C, Patch C, Pereira M, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smith S, Sosinsky A, Stuckey A, Tanguy M, Tavares A, Thomas E, Thompson S, Tucci A, Welland M, Williams E, Witkowska K, Wood S, Popp B, Torres V, Hogan M, Somlo S, Watnick T, Nevens F, Besse W, Gall E, Harris P, Drenth J, Halbritter J. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology 2023, 166: 902-914. PMID: 38101549, DOI: 10.1053/j.gastro.2023.12.007.Peer-Reviewed Original ResearchAutosomal dominant polycystic liver diseasePolycystic liver diseaseDisease-related hospitalizationsLiver diseaseLiver eventsPathogenic variantsPrimary clinical end pointCombination of female sexCohort of patientsClinical end pointsInternational multicenter cohortPrediction of disease progressionGenotype-phenotype correlationPrimary clinical endpointTotal liver volumeUnderlying genetic defectSymptomatic hepatomegalyDesign of randomized controlled trialsRandomized controlled trialsFemale patientsIndependent of sexMulticenter cohortFemale preponderanceRare conditionSymptomatic diseaseDIAGNOSING THE UNCOMMON: BULLOUS PEMPHIGOID PRESENTING AS ECZEMATOUS DERMATITIS AND SEVERE PRURITIS
You L, Kwah J, Cohen J, Wong K. DIAGNOSING THE UNCOMMON: BULLOUS PEMPHIGOID PRESENTING AS ECZEMATOUS DERMATITIS AND SEVERE PRURITIS. Annals Of Allergy Asthma & Immunology 2023, 131: s189-s190. DOI: 10.1016/j.anai.2023.08.584.Peer-Reviewed Original ResearchAtopic dermatitisBullous pemphigoidSevere pruritusVariable clinical presentationSkin lesionsEczematous dermatitisCases of BPMonths of therapyHistory of asthmaSubset of patientsElevated IgG antibodiesSevere pruritisTense bullaeTopical corticosteroidsAllergic rhinitisPersistent pruritusAppropriate patientsInitial presentationScaly rashClinical presentationRare entityFinal diagnosisIgG antibodiesRare conditionCommon conditionVariable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review
Bondarenko A, Boyarchuk O, Sakovich I, Polyakova E, Migas A, Kupchinskaya A, Opalinska A, Reich A, Volianska L, Hilfanova A, Lapiy F, Chernyshova L, Volokha A, Zabara D, Belevtsev M, Shman T, Kukharenko L, Goltsev M, Dubouskaya T, Hancharou A, Ji W, Lakhani S, Lucas C, Aleinikova O, Sharapova S. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review. Clinical Case Reports 2023, 11: e7791. PMID: 37601427, PMCID: PMC10432584, DOI: 10.1002/ccr3.7791.Peer-Reviewed Original ResearchCD18 expressionLAD-1Effector cytotoxic T cellsPyoderma gangrenosum-like lesionsHematopoietic stem cell transplantationGangrenosum-like lesionsRespiratory tract infectionsStem cell transplantationInflammatory skin diseaseCytotoxic T cellsImmune system imbalanceType 1 deficiencyYears of ageLeukocyte adhesion deficiency (LAD) IWhole-exome sequencingAutosomal recessive disorderAutoinflammatory complicationsInfectious manifestationsTract infectionsCell transplantationRare conditionT cellsOral cavitySkin diseasesClinical casesReview and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus
Hanin A, Cespedes J, Pulluru Y, Gopaul M, Aronica E, Decampo D, Helbig I, Howe C, Huttner A, Koh S, Navarro V, Taraschenko O, Vezzani A, Wilson M, Xian J, Gaspard N, Hirsch L. Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus. Epilepsia 2023, 64: 1444-1457. PMID: 37039049, PMCID: PMC10756682, DOI: 10.1111/epi.17600.Peer-Reviewed Original ResearchConceptsNew-onset refractory status epilepticusFebrile infection-related epilepsy syndromeRefractory status epilepticusStatus epilepticusCollection of biospecimensManagement of patientsStatus epilepticus patientsBetter clinical managementDisease-specific therapiesFebrile illnessStudy cohortEpilepsy syndromesOutcome endpointsStandard operating proceduresClinical managementRare conditionSevere formAnalysis of biomarkersPatientsMulticenter researchEpilepticusSpecific biomarkersExact causeSmall sample sizeBiospecimen collection
2022
Idiopathic posterior papillary muscle rupture; a case report
Milioglou I, Janko M, Hassan H, ElHaq M, Filby S, Pelletier M. Idiopathic posterior papillary muscle rupture; a case report. BMC Cardiovascular Disorders 2022, 22: 151. PMID: 35387586, PMCID: PMC8988393, DOI: 10.1186/s12872-022-02570-4.Peer-Reviewed Original ResearchConceptsCase presentationA 73-year-old womanElevated serum troponin levelsEmergency mitral valve replacementFlail posterior mitral leafletSevere mitral regurgitationMitral valve replacementSerum troponin levelsPosterior mitral leafletST-segment changesChest painMitral regurgitationTroponin levelsValve replacementClinical presentationCoronary angiographyMitral leafletMuscle ruptureRare conditionConclusionThePresentationEchocardiographyRegurgitationAngiographyPainHypertension
2021
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature. Hormone Research In Paediatrics 2021, 94: 374-389. PMID: 34666334, DOI: 10.1159/000520299.Peer-Reviewed Original ResearchConceptsHereditary hypophosphatemic ricketsRenal symptomsPhosphate wastingHypophosphatemic ricketsVariable clinical presentationRenal phosphate wastingPhenotype-genotype correlationSLC34A3 mutationsUrine phosphateBone symptomsCase seriesMineralization defectRare conditionSLC34A3 variantsSerum phosphorusHHRHAccurate diagnosisUrinary stonesPatientsCombined boneHypercalciuriaLiterature reviewSymptomsSLC34A3Systematic literature review
2020
Secondary Abdominal Cocoon Syndrome Due To Chronic Beta-Blocker Use
Asotibe J, Zargar P, Achebe I, Mba B, Kotwal V. Secondary Abdominal Cocoon Syndrome Due To Chronic Beta-Blocker Use. Cureus 2020, 12: e10509. PMID: 33094050, PMCID: PMC7571602, DOI: 10.7759/cureus.10509.Peer-Reviewed Original ResearchChronic beta-blocker therapyBeta-blocker therapyChronic beta-blocker useAbdominal cocoon syndromeBeta-blocker useRecurrent bowel obstructionThick fibrous membraneEncapsulating peritonitisBowel obstructionCocoon syndromeRare presentationSyndrome DueRare conditionIntestinal wallImportant associationTherapyAssociationPeritonitisSyndromeObstruction
2019
1845 Rapidly Progressive Dysphagia as Presenting Symptom of Gastrointestinal Amyloidosis
Gandle C, Millien V, Tasleem S, Bloomquist M, Choi E, Hernaez R, Cole R, Ketwaroo G. 1845 Rapidly Progressive Dysphagia as Presenting Symptom of Gastrointestinal Amyloidosis. The American Journal Of Gastroenterology 2019, 114: s1036-s1036. DOI: 10.14309/01.ajg.0000596912.33461.9b.Peer-Reviewed Original ResearchProgressive dysphagiaGastrointestinal amyloidosisGI tractPresenting symptomCongo red-positive amyloid depositsClonal plasma cell proliferationTime of diagnosisPlasma cell proliferationLamina propria fibrosisB-cell lymphomaGastric erythemaGastrointestinal involvementGlobus sensationUnrelated causesEsophageal biopsiesSystemic diseaseUncommon symptomUnusual presentationAL amyloidRare conditionRare illnessAL amyloidosisAmyloid depositsDysphagiaType amyloidosisCoronary Aneurysm: An Enigma Wrapped in a Mystery
Carino D, Agarwal A, Singh M, Meadows J, Ziganshin BA, Elefteriades JA. Coronary Aneurysm: An Enigma Wrapped in a Mystery. Aorta 2019, 07: 071-074. PMID: 31614375, PMCID: PMC6794143, DOI: 10.1055/s-0039-1688467.Peer-Reviewed Case Reports and Technical NotesClinical Insignficance of Monoclonal T-Cell Populations and Duodenal Intraepithelial T-Cell Phenotypes in Celiac and Nonceliac Patients
Celli R, Hui P, Triscott H, Bogardus S, Gibson J, Hwang M, Robert ME. Clinical Insignficance of Monoclonal T-Cell Populations and Duodenal Intraepithelial T-Cell Phenotypes in Celiac and Nonceliac Patients. The American Journal Of Surgical Pathology 2019, 43: 151-160. PMID: 30334829, DOI: 10.1097/pas.0000000000001172.Peer-Reviewed Original ResearchConceptsRefractory celiac diseaseT cell populationsMonoclonal T-cell populationRCD IRCD IICeliac diseasePersistent symptomsCD patientsIntraepithelial lymphocytesType II refractory celiac diseaseCD8-positive intraepithelial lymphocytesClonal T-cell populationsT-cell receptor gene rearrangementsAbnormal intraepithelial lymphocytesT-cell phenotypeReceptor gene rearrangementsParaffin-embedded biopsiesParaffin-embedded tissuesCD8 stainingLymphocyte phenotypingNonceliac patientsVillous bluntingDuodenal biopsiesRare conditionSpecialized centers
2018
Non-invasive evaluation of a liver mass in a patient post splenectomy
Smolen B, Khoury J, Baruch Y, Saadi T. Non-invasive evaluation of a liver mass in a patient post splenectomy. Scottish Medical Journal 2018, 64: 35-39. PMID: 30380995, DOI: 10.1177/0036933018801449.Peer-Reviewed Case Reports and Technical NotesConceptsRed blood cell scintigraphySmall bowel obstructionLeft upper quadrantNon-invasive evaluationBowel obstructionAbdominal traumaElective splenectomyLiver biopsyUpper quadrantHepatic massRare conditionPost splenectomyInvasive investigationsPeritoneal cavityCorrect diagnosisLiver massAccidental lesionsLiver lesionsSplenic pulpSpillage of cellsSplenosisSplenectomyScintigraphyLesionsNumerous conditionsPediatric Bilateral Facial Paralysis: An Unusual Presentation of Lyme Disease
Wong K, Sequeira S, Bechtel K. Pediatric Bilateral Facial Paralysis: An Unusual Presentation of Lyme Disease. Pediatric Emergency Care 2018, Publish Ahead of Print: 1. PMID: 30365410, DOI: 10.1097/pec.0000000000001648.Peer-Reviewed Original ResearchConceptsBilateral facial nerve paralysisFacial nerve paralysisLyme diseaseUnusual presentationHuman immunodeficiency virus (HIV) infectionCommon infectious etiologiesBrain stem encephalitisComplaints of headacheGuillain-Barre syndromeImmunodeficiency virus infectionHistory of rashSerious systemic conditionsErythema chronicum migransRecent tick exposureLyme disease endemic areaDisease-endemic areasInfectious etiologyNerve paralysisPediatric populationEmergency departmentCase reportDiagnostic challengeRare conditionSystemic conditionsDifferential diagnosis
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