2023
Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapySubstrate reduction therapyAvascular osteonecrosisTertiary referral centerGaucher diseaseReferral centerTreatment initiationGD patientsImiglucerase enzyme replacement therapyResidual disease activityAnti-drug antibodiesYears of treatmentType of therapyRare inborn errorMixed-effects logistic modelGD1 patientsSpleen statusDisease activityClinical outcomesRisk stratificationReplacement therapyIndependent correlatesMultiple therapiesReduction therapyHigh risk
2021
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A, Haddad E, Beland K, Pujol A, Schlüter A, Planas-Serra L, Aguilera-Albesa S, Valencia-Ramos J, Rodríguez-Palmero A, Gut M, Rivière J, Colobran R, Soler-Palacin P, Rodriguez-Gallego C, De Diego R, Flores C, Alsina L, Blazquez-Gamero D, Jordan I, Keles S, Emiroglu M, Akcan O, Alkan G, Aytekin S, Gul Y, Öz Ş, Bozdemir S, Bayhan G, Kanık-Yüksek S, Parlakay A, Gülhan B, Yahşi A, Kilic A, Karbuz A, Erdeniz E, Özkan E, Orbak Z, Aydemir Ş, Celik J, Kandemir B, Aytekin G, Kapakli H, Yarar V, Yosunkaya A, Vatansev H, Aytekin C, Torun S, Nepesov S, Coskuner T, Sözeri B, Demirkol Y, Kasapcopur O, Yıldız M, Sevketoglu E, Hatipoğlu N, Özçelik T, Yesilbas O, Aydin Z, Sediva A, Klocperk A, Bloomfield M, Meyts I, Delafontaine S, Haerynck F, Hoste L, Shahrooei M, Marque L, Neves J, Novelli G, Novelli A, Aiuti A, Casari G, Bousfiha A, Almuhsen S, Sobh A, Gagro A, Bajolle F, Bonnet D, Lebon P, Lei W, Lee D, Seeleuthner Y, Zhang P, Maglorius M, Philippot Q, Pelham S, Bastard P, Zhang Q, Jouanguy E, Puel A, Herberg J, Kuijpers T, Bellos E, Kaforou M, Menikou S, Pan-Hammarström Q, Hammarström L, Abolhassani H, Bryceson Y, Condino-Neto A, Prando C, Bando S, Cavalcanti A, Fellay J, Blanchard-Rohner G, Mansouri D, Mahmoudi S, Boyarchuk O, Volokha A, Bondarenko A, Stepanovskiy Y, Mogensen T, van de Beek D, Andreakos E, Papadaki M, Tayoun A, Halwani R, Al-Mulla F, Franco J, Lau Y, Kwan M, Imai K, Okada S, Bolze A, Butte M, Hsieh E, Drolet B, Arkin L, Itan Y, Maniatis T, Arditi M, Cooper M, Schmitt E, Chakravorty S, Anderson M, Su H, Notarangelo L, Tangye S, Milner J, Levin M, Abel L, Bogunovic D, Casanova J, Zhang S. SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease? Journal Of Experimental Medicine 2021, 218: e20210446. PMID: 33904890, PMCID: PMC8080850, DOI: 10.1084/jem.20210446.Peer-Reviewed Original ResearchConceptsClassic Kawasaki diseaseKawasaki diseaseSARS-CoV-2Higher COVID-19 ratesPathogenesis of MISRare inborn errorCOVID-19 ratesMonogenic IEIInflammatory syndromeViral illnessViral triggerInflammatory conditionsImmune responseEpidemiological dataInborn errorsGenetic causeWeak associationPathogenesisDiseaseIEIChildrenSyndromeIllnessInfectionImmunity
2010
Neonatal cholestasis: an uncommon presentation of hyperargininemia
Martins E, Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. Journal Of Inherited Metabolic Disease 2010, 33: 503-506. PMID: 21229317, DOI: 10.1007/s10545-010-9263-7.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acids, EssentialArginaseArginineBiomarkersChildChild DevelopmentChild, PreschoolCholestasisDiet, Protein-RestrictedDisease ProgressionEnd Stage Liver DiseaseFemaleGenetic Predisposition to DiseaseHumansHyperargininemiaHypertension, PortalInfantInfant, NewbornLiver Cirrhosis, BiliaryLiver TransplantationNeonatal ScreeningPhenotypeTreatment OutcomeConceptsNeonatal cholestasisLiver diseaseSuccessful orthotopic liver transplantEnd-stage liver diseaseFurther evaluationProgressive biliary cirrhosisInitial clinical presentationOrthotopic liver transplantProgressive spastic paraparesisCholestatic liver diseaseYears of ageMonths of ageRare inborn errorLiver transplantPortal hypertensionBiliary cirrhosisNeurological examinationClinical presentationUncommon presentationInjury patternsSpastic paraparesisUnexplained cholestasisNeonatal presentationDifferential diagnosisFirst presentation
2005
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
Xu R, Mistry P, Mckenna G, Emre S, Schiano T, Bu-Ghanim M, Levi G, Fiel M. Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature. Seminars In Liver Disease 2005, 25: 226-229. PMID: 15918150, DOI: 10.1055/s-2005-871201.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseHepatocellular carcinomaGaucher diseaseLiver transplantationInborn errorsType 1 Gaucher's diseaseNecessitating liver transplantationNon-neuronopathic diseaseDevelopment of cirrhosisMajority of patientsStandard of careRisk of malignancyEnzyme replacement therapyDeficiency of glucocerebrosidaseRare inborn errorVariety of neoplasmsAutosomal recessive disorderMarrow infiltrationPulmonary diseaseSupplemental therapyReplacement therapyCase reportLysosomal storage diseaseTissue macrophagesType 2
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