2023
Determinants of muscle function and health-related quality of life in patients with endogenous hypercortisolism: a cross-sectional study
Li D, Zhang C, Saini J, Singh S, Nathani R, Thangamuthu K, Suresh M, Atkinson E, Achenbach S, Van Gompel J, Young W, Bancos I. Determinants of muscle function and health-related quality of life in patients with endogenous hypercortisolism: a cross-sectional study. European Journal Of Endocrinology 2023, 189: 40-49. PMID: 37327378, PMCID: PMC10376436, DOI: 10.1093/ejendo/lvad069.Peer-Reviewed Original ResearchConceptsMild autonomous cortisol secretionQuality of lifeReduced muscle strengthCushing's syndromeMuscle strengthEndogenous hypercortisolismComponent scoresPhysical component of SF36Sit-to-stand test performanceHealth-related quality of lifeSF36 mental component scoreMuscle functionSeverity scoreReference subjectsMental component scorePhysical component scoreHealth-related qualityAutonomous cortisol secretionClinical severity scoreMuscle strength impairmentCross-sectional studyDeterminants of muscle functionStrength impairmentsAdrenal CSEctopic CSProvisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz‐Manera J, Korb M, Wicklund M, Milone M, Freimer M, Kushlaf H, Villar‐Quiles R, Stojkovic T, Needham M, Palmio J, Lloyd T, Keung B, Mozaffar T, Weihl C, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals Of Clinical And Translational Neurology 2023, 10: 686-695. PMID: 37026610, PMCID: PMC10187720, DOI: 10.1002/acn3.51760.Peer-Reviewed Original ResearchMeSH KeywordsHumansMuscular DiseasesMuscular Dystrophies, Limb-GirdlePhenotypeProteostasis DeficienciesValosin Containing ProteinConceptsVCP myopathyMultisystem proteinopathyPercent of patientsConsensus-based guidelinesOnly definitive wayHeterogeneous clinical phenotypesMagnetic resonance imagingMulti-gene panel sequencingAutosomal dominant patternRare genetic disorderPathogenic genetic variantsElectrodiagnostic studiesDisease mimicsLimb-girdle muscular dystrophy phenotypePatient advocacy organizationsVCP variantBone diseaseMuscle biopsyProvisional recommendationsDiagnostic uncertaintyPatient careClinical phenotypeMuscular dystrophy phenotypeResonance imagingMyopathy
2022
SARS–CoV‐2 Infection and COVID‐19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta‐Analysis
Conway R, Grimshaw AA, Konig MF, Putman M, Duarte‐García A, Tseng LY, Cabrera DM, Chock YPE, Degirmenci HB, Duff E, Egeli BH, Graef ER, Gupta A, Harkins P, Hoyer BF, Jayatilleke A, Jin S, Kasia C, Khilnani A, Kilian A, Kim AHJ, Lin CMA, Low C, Proulx L, Sattui SE, Singh N, Sparks JA, Tam H, Ugarte‐Gil M, Ung N, Wang K, Wise LM, Yang Z, Young KJ, Liew JW, Grainger R, Wallace ZS, Hsieh E, Alliance T. SARS–CoV‐2 Infection and COVID‐19 Outcomes in Rheumatic Diseases: A Systematic Literature Review and Meta‐Analysis. Arthritis & Rheumatology 2022, 74: 766-775. PMID: 34807517, PMCID: PMC9011807, DOI: 10.1002/art.42030.Peer-Reviewed Original ResearchMeSH KeywordsCOVID-19HospitalizationHumansMuscular DiseasesRespiration, ArtificialRheumatic DiseasesSARS-CoV-2ConceptsSARS-CoV-2 infectionMechanical ventilationRisk ratioOdds ratioMortality rateCOVID-19 disease severityJoanna Briggs Institute critical appraisal toolsCOVID-19Odds of hospitalizationNewcastle-Ottawa ScaleCOVID-19 outcomesRandom-effects modelCritical appraisal toolMantel-Haenszel formulaSystematic literature reviewAdjusted riskICU admissionRMD patientsClinical outcomesRheumatic diseasesMethodologic qualityRelative riskObservational studyGeneral populationLower risk
2021
Two cases of Chanarin‐Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene
Jiang X, Zhong W, Yu B, Lin Z, Wang H. Two cases of Chanarin‐Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene. International Journal Of Dermatology 2021, 60: 904-906. PMID: 33569812, DOI: 10.1111/ijd.15432.Peer-Reviewed Original Research
2020
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAmino Acid Metabolism, Inborn ErrorsBiomarkersBrain Diseases, MetabolicCaliforniaCongenital Bone Marrow Failure SyndromesEthnicityFalse Positive ReactionsFemaleGestational AgeGlutaryl-CoA DehydrogenaseHumansInfant, NewbornLipid Metabolism, Inborn ErrorsMaleMitochondrial DiseasesMuscular DiseasesNeonatal ScreeningOrnithine Carbamoyltransferase Deficiency DiseaseTandem Mass SpectrometryConceptsMetabolic marker levelsOrnithine transcarbamylase deficiencyMethylmalonic acidemiaClinical variablesMarker levelsBlack infantsMetabolic markersBlood metabolic markersDiverse newborn populationGlutaric acidemia type 1False-positive screensLong-chain acyl-CoA dehydrogenase deficiencyEthnicity-related differencesNewborn screening programsFalse-positive casesInborn metabolic disordersAcyl-CoA dehydrogenase deficiencySingleton babiesGestational ageBirth weightScreening programMetabolic disordersNewborn populationInfluence of ethnicityMetabolic screeningMuscle Complaints or Events in Patients Randomized to Simvastatin or Ezetimibe/Simvastatin
Nanna MG, Navar AM, Giugliano RP, White JA, Lokhnygina Y, Mitchel YB, Musliner TA, Cannon CP, Blazing MA. Muscle Complaints or Events in Patients Randomized to Simvastatin or Ezetimibe/Simvastatin. Journal Of The American College Of Cardiology 2020, 75: 835-837. PMID: 32081289, PMCID: PMC7158876, DOI: 10.1016/j.jacc.2019.12.022.Peer-Reviewed Original Research
2019
Biomarker Profile of Left Atrial Myopathy in Heart Failure With Preserved Ejection Fraction: Insights From the RELAX Trial
Patel RB, Alenezi F, Sun JL, Alhanti B, Vaduganathan M, Oh JK, Redfield MM, Butler J, Hernandez AF, Velazquez EJ, Shah SJ. Biomarker Profile of Left Atrial Myopathy in Heart Failure With Preserved Ejection Fraction: Insights From the RELAX Trial. Journal Of Cardiac Failure 2019, 26: 270-275. PMID: 31857197, PMCID: PMC7078046, DOI: 10.1016/j.cardfail.2019.12.001.Peer-Reviewed Original ResearchMeSH KeywordsAtrial Function, LeftBiomarkersHeart FailureHumansMuscular DiseasesNatriuretic Peptide, BrainPeptide FragmentsStroke VolumeConceptsLA reservoir strainLA myopathyHeart failureNT-proBNPEjection fractionLA reservoirReservoir strainLA strainN-terminal pro-B-type natriuretic peptidePro-B-type natriuretic peptideAtrial mechanical dysfunctionEjection Fraction trialLA contractile strainLower LA reservoirJugular venous pressurePoor clinical outcomePhosphodiesterase-5 inhibitionAssociation of LAAtrial myopathyBaseline echocardiogramRELAX trialNeurohormonal activationExercise capacityVenous pressureClinical outcomes
2018
Spring ligament tear decreases static stability of the ankle joint
Kelly M, Masqoodi N, Vasconcellos D, Fowler X, Osman WS, Elfar JC, Olles MW, Ketz JP, Flemister AS, Oh I. Spring ligament tear decreases static stability of the ankle joint. Clinical Biomechanics 2018, 61: 79-83. PMID: 30529505, DOI: 10.1016/j.clinbiomech.2018.11.011.Peer-Reviewed Original ResearchConceptsJoint reactive forcesSpring ligament injurySpring ligament tearsLigament injuryLigament tearsInjury modelTalonavicular jointInjury statesCadaveric lower legsLigament reconstructionHuman cadaveric lower legsNon-invasive methodFlatfoot deformityDeltoid ligamentSpring ligamentLower legJoint stabilityAnkle jointKnee jointBiomechanical studyLigamentLimbSignificant increaseInjuryAdvanced adultRIG-I Uses an ATPase-Powered Translocation-Throttling Mechanism for Kinetic Proofreading of RNAs and Oligomerization
Devarkar S, Schweibenz B, Wang C, Marcotrigiano J, Patel S. RIG-I Uses an ATPase-Powered Translocation-Throttling Mechanism for Kinetic Proofreading of RNAs and Oligomerization. Molecular Cell 2018, 72: 355-368.e4. PMID: 30270105, PMCID: PMC6434538, DOI: 10.1016/j.molcel.2018.08.021.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAdenosine TriphosphateAortic DiseasesCell LineDEAD Box Protein 58DEAD-box RNA HelicasesDental Enamel HypoplasiaFemaleHEK293 CellsHumansHydrolysisKineticsMetacarpusMuscular DiseasesOdontodysplasiaOsteoporosisProtein BindingReceptors, Antigen, T-CellReceptors, ImmunologicRibosomesRNARNA, Double-StrandedSignal TransductionVascular CalcificationConceptsRIG-ISelf-RNARNA discriminationMechanism of RIG-I activationRIG-I oligomerizationC-terminal domainActivation of RIG-IRIG-I activationTransient-state kineticsAutoinhibited stateBind ATPATP bindingDNA polymeraseDsRNAOligomeric complexesConstitutive signalingKinetic proofreadingStem regionATPase activityT cell receptorRNACell receptorsFast off rateATPTranslocationIsolated Myopathy: An Unusual Manifestation of Inhaled Fluticasone Propionate and Ritonavir Interaction
Ali M, Kooragayalu S, Mba B, Olsen F. Isolated Myopathy: An Unusual Manifestation of Inhaled Fluticasone Propionate and Ritonavir Interaction. Archivos De Bronconeumología 2018, 55: 223-225. PMID: 30098843, DOI: 10.1016/j.arbres.2018.06.018.Peer-Reviewed Original Research
2017
Electrodiagnostic studies in the intensive care unit: A comparison study 2 decades later
Ojha A, Zivkovic S, Lacomis D. Electrodiagnostic studies in the intensive care unit: A comparison study 2 decades later. Muscle & Nerve 2017, 57: 772-776. PMID: 29053882, DOI: 10.1002/mus.25998.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overElectrodiagnosisFemaleHumansIntensive Care UnitsLongitudinal StudiesMaleMiddle AgedMuscular DiseasesImproving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O’Grady G, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O’Donnell-Luria A, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Consortium G, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine 2017, 9 PMID: 28424332, PMCID: PMC5548421, DOI: 10.1126/scitranslmed.aal5209.Peer-Reviewed Original ResearchMeSH KeywordsCollagen Type VIHigh-Throughput Nucleotide SequencingHumansMuscular DiseasesMutationTranscriptomeConceptsTranscriptome sequencingRNA-seqCurrent diagnostic ratePrior genetic analysisTranscript level changesTriple-helical domainDeep intronic regionsWhole-genome sequencingSplice-altering variantsInterpretation of variantsRepeat motifsGenomic analysisHelical domainMendelian disease diagnosisGenetic analysisMendelian diseasesIntronic regionsSkeletal muscle samplesSequencingRare disease diagnosisIntronic mutationOverall diagnosis rateStandard diagnostic approachRare muscle disorderComplementary diagnostic tool
2016
The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature
Wijerathne BT, Meier RJ, Agampodi SB. The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature. Journal Of Medical Case Reports 2016, 10: 258. PMID: 27650795, PMCID: PMC5030737, DOI: 10.1186/s13256-016-1048-7.Peer-Reviewed Original ResearchConceptsTel Hashomer camptodactyly syndromeDermatoglyphic featuresCases of patientsAvailable casesMeta-Analyses (PRISMA) statementPreferred Reporting ItemsSystematic literature searchEarly fetal developmentEarly fetal periodClinical featuresCochrane LibraryPalmar creasesRare diseaseIntrauterine effectsTrip DatabaseReporting ItemsFetal developmentGrowth disturbanceFlexion creasesSyndromeSystematic reviewFetal periodFuture patientsPhenotypic biomarkersLiterature search
2015
HIV+ patient on suppressive antiretroviral therapy with steroid injection-induced myopathy
Farber SJ, Sutton RE. HIV+ patient on suppressive antiretroviral therapy with steroid injection-induced myopathy. AIDS 2015, 29: 1422-1424. PMID: 26098599, DOI: 10.1097/qad.0000000000000738.Peer-Reviewed Original ResearchWnt/&bgr;-Catenin Signaling Contributes to Skeletal Myopathy in Heart Failure via Direct Interaction With Forkhead Box O
Okada K, Naito AT, Higo T, Nakagawa A, Shibamoto M, Sakai T, Hashimoto A, Kuramoto Y, Sumida T, Nomura S, Ito M, Yamaguchi T, Oka T, Akazawa H, Lee JK, Morimoto S, Sakata Y, Shiojima I, Komuro I. Wnt/&bgr;-Catenin Signaling Contributes to Skeletal Myopathy in Heart Failure via Direct Interaction With Forkhead Box O. Circulation Heart Failure 2015, 8: 799-808. PMID: 26038536, DOI: 10.1161/circheartfailure.114.001958.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsbeta CateninCardiomyopathy, DilatedCell LineComplement C1qDisease Models, AnimalForkhead Box Protein O1Forkhead Transcription FactorsMice, TransgenicMuscle FatigueMuscle Fibers, SkeletalMuscle, SkeletalMuscular DiseasesRNA InterferenceTransfectionWnt Signaling PathwayWnt3A ProteinConceptsChronic heart failureFiber type shiftFatigable fibersSkeletal myopathyActivation of WntHeart failureModel miceCardiomyopathy miceSkeletal muscleNovel therapeutic targetMediator β-cateninType IIB fibersControl miceType shiftC2C12 cellsTherapeutic targetSignaling contributesComplement C1qMyopathyMiceCritical roleIIB fibersForkhead box OΒ-cateninFoxO1 activity
2013
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies
Nouws J, Brinke H, Nijtmans L, Houten S. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Human Molecular Genetics 2013, 23: 1311-1319. PMID: 24158852, DOI: 10.1093/hmg/ddt521.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAcyl-CoA DehydrogenasesCarnitineCatalysisCell LineCongenital Bone Marrow Failure SyndromesElectron Transport Complex IEnzyme ActivationFatty AcidsHumansLipid Metabolism, Inborn ErrorsMitochondriaMitochondrial DiseasesModels, MolecularMolecular WeightMuscular DiseasesMutationOxidation-ReductionOxidative PhosphorylationProtein ConformationConceptsAcyl-CoA dehydrogenase 9Complex IFatty acid oxidationEnzymatic activityLong-chain acyl-CoA dehydrogenaseAcid oxidationAcyl-CoA dehydrogenaseDuplication eventsAssembly intermediatesKnockdown experimentsFatty acid loadingOxidative phosphorylationFatty acid oxidation deficiencyMetabolic pathwaysComplete rescueDeficient fibroblastsMajor metabolic pathwaysEnzyme activityControl fibroblastsFibroblastsVLCAD deficiencyPhosphorylationMitochondriaKnockdownProteinMuscular effects of statins in the elderly female: a review
Bhardwaj S, Selvarajah S, Schneider E. Muscular effects of statins in the elderly female: a review. Clinical Interventions In Aging 2013, 8: 47-59. PMID: 23355775, PMCID: PMC3552608, DOI: 10.2147/cia.s29686.Peer-Reviewed Original ResearchConceptsMuscle disordersElderly femalesMuscular effectsMuscle-related side effectsIncidence of statinLong-term outcomesOverall patient complianceOlder adult womenOverall incidenceCardiovascular healthElderly womenPatient complianceStatinsSide effectsAdult womenOlder individualsYoung individualsAppropriate useDisordersSignificant reductionVulnerable groupsIncidenceWomenFemalesPatients
2012
Zotepine-related myopathy in a patient with schizophrenia
Chen I, Hsieh M, Hwang T, Liu C. Zotepine-related myopathy in a patient with schizophrenia. European Journal Of Clinical Pharmacology 2012, 69: 725-726. PMID: 22797903, DOI: 10.1007/s00228-012-1346-y.Peer-Reviewed Original Research
2011
Disseminated fusarium infection with muscle involvement
King BA, Seropian S, Fox LP. Disseminated fusarium infection with muscle involvement. Journal Of The American Academy Of Dermatology 2011, 65: 235-237. PMID: 21679835, DOI: 10.1016/j.jaad.2009.12.034.Peer-Reviewed Case Reports and Technical NotesStatin myopathy: A common dilemma not reflected in clinical trials
Fernandez G, Spatz E, Jablecki C, Phillips P. Statin myopathy: A common dilemma not reflected in clinical trials. Cleveland Clinic Journal Of Medicine 2011, 78: 393-403. PMID: 21632911, DOI: 10.3949/ccjm.78a.10073.Peer-Reviewed Original Research
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