2023
Basal Cell Skin Cancer, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology.
Schmults C, Blitzblau R, Aasi S, Alam M, Amini A, Bibee K, Bordeaux J, Chen P, Contreras C, DiMaio D, Donigan J, Farma J, Ghosh K, Harms K, Ho A, Lukens J, Mark L, Medina T, Nehal K, Nghiem P, Olino K, Park S, Patel T, Puzanov I, Rich J, Sekulic A, Shaha A, Srivastava D, Thomas V, Tomblinson C, Venkat P, Xu Y, Yu S, Yusuf M, McCullough B, Espinosa S. Basal Cell Skin Cancer, Version 2.2024, NCCN Clinical Practice Guidelines in Oncology. Journal Of The National Comprehensive Cancer Network 2023, 21: 1181-1203. PMID: 37935106, DOI: 10.6004/jnccn.2023.0056.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBasal cell carcinomaNCCN Clinical Practice GuidelinesClinical practice guidelinesSkin cancerTreatment optionsPractice guidelinesBasal cell skin cancerPrevalent treatment optionPrevious medical therapyLimitation of functionBCC occurrenceMedical therapyRisk stratificationBCC developmentCell carcinomaCancerCommon formOncologyAnnual rateEstimated ratesGuidelinesKey playersSurgeryCarcinomaHigh frequencyA De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia
Kayser M, Jain P, Bale A, Carpenter T. A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia. JCEM Case Reports 2023, 1: luad082. PMID: 37908207, PMCID: PMC10586592, DOI: 10.1210/jcemcr/luad082.Peer-Reviewed Original ResearchSkewed X-inactivationFibroblast growth factor 23Growth factor 23Intrauterine growth restrictionSingle nucleotide polymorphismsDiagnosis of XLHClinical featuresFactor 23Duodenal atresiaRadiographic featuresGrowth restrictionPostnatal genetic testingAndrogen receptor locusPotential treatmentGenetic testingHypophosphatemiaXLHHereditary ricketsDominant disorderPrenatal identificationCommon formHemizygous malesHeterozygous disruptionRicketsHeterozygous femalesChapter 8 Familial hyperaldosteronism
Pappachan J, Fernandez C, Geller D. Chapter 8 Familial hyperaldosteronism. 2023, 105-112. DOI: 10.1016/b978-0-323-96120-2.00016-9.ChaptersPrimary aldosteronismFamilial hyperaldosteronismMonogenic hypertensionOral glucocorticoid therapyGlucocorticoid-remediable aldosteronismRare autosomal dominant disorderGroup of diseasesSporadic primary aldosteronismAutosomal dominant disorderFH-IIIFH-IVGlucocorticoid therapyPathobiological aspectsDiagnostic evaluationRare disorderHyperaldosteronismFamilial formsBiochemical testingDominant disorderFH-IICommon formAldosteronismHypertensionDisordersVariable penetrancePrion Protein Complex with mGluR5 Mediates Amyloid-ß Synaptic Loss in Alzheimer’s Disease
Roseman G, Fu L, Strittmatter S. Prion Protein Complex with mGluR5 Mediates Amyloid-ß Synaptic Loss in Alzheimer’s Disease. 2023, 467-481. DOI: 10.1007/978-3-031-20565-1_22.ChaptersAlzheimer's diseaseMouse modelAD transgenic mouse modelLong-term potentiation impairmentPrimary histopathological featureAD mouse modelAmyloid-beta plaquesTransgenic mouse modelPotential therapeutic targetSynaptic lossHistopathological featuresAD pathophysiologyNeuronal dysfunctionSynapse densityCognitive dysfunctionNeurofibrillary tanglesTherapeutic targetMemory deficitsCellular prion proteinMGluR5DiseaseCell death characteristicCommon formSynaptotoxicityDysfunction
2022
Unconventional Oil and Gas Development Exposure and Risk of Childhood Acute Lymphoblastic Leukemia: A Case–Control Study in Pennsylvania, 2009–2017
Clark CJ, Johnson NP, Soriano M, Warren JL, Sorrentino KM, Kadan-Lottick NS, Saiers JE, Ma X, Deziel NC. Unconventional Oil and Gas Development Exposure and Risk of Childhood Acute Lymphoblastic Leukemia: A Case–Control Study in Pennsylvania, 2009–2017. Environmental Health Perspectives 2022, 130: 087001. PMID: 35975995, PMCID: PMC9383266, DOI: 10.1289/ehp11092.Peer-Reviewed Original ResearchConceptsAcute lymphoblastic leukemiaCase-control studyOdds ratioChildhood leukemiaLymphoblastic leukemiaPerinatal windowRegistry-based case-control studyChildhood acute lymphoblastic leukemiaConfidence intervalsResidential proximityChildren ages 2Risk factorsMaternal raceChild healthExposure windowsSocio-economic statusPotential associationLeukemiaLogistic regressionAge 2Birth yearCommon formBirth residenceDevelopment exposureOdds
2021
Role of diet in hyperuricemia and gout
Danve A, Sehra ST, Neogi T. Role of diet in hyperuricemia and gout. Best Practice & Research Clinical Rheumatology 2021, 35: 101723. PMID: 34802900, PMCID: PMC8678356, DOI: 10.1016/j.berh.2021.101723.Peer-Reviewed Original ResearchConceptsDietary factorsLong-term clinical courseWeight lossMainstay of therapyUrate-lowering therapySerum urate levelsRole of dietLow purine dietTreatment of goutGout outcomesInflammatory arthritisClinical courseDefinitive managementDietary ApproachesGout flaresUrate levelsGlobal burdenGoutHyperuricemiaIndividual foodsHigh fructose corn syrupCertain foodsLimited evidenceVitamin CCommon formInflammatory hydrocephalus
Robert SM, Reeves BC, Marlier A, Duy PQ, DeSpenza T, Kundishora A, Kiziltug E, Singh A, Allington G, Alper SL, Kahle KT. Inflammatory hydrocephalus. Child's Nervous System 2021, 37: 3341-3353. PMID: 34164718, DOI: 10.1007/s00381-021-05255-z.Peer-Reviewed Original ResearchConceptsPost-infectious hydrocephalusImmune cell profilesCerebrospinal fluid diversion techniquesPotential therapeutic vulnerabilitiesImportant protective responseCSF cytokinesProlong diseaseSustained inflammationHigher complicationsPreventable conditionClinical studiesNeurosurgical disordersReparative inflammationDistinct etiologiesHuman patientsHydrocephalusCell profilesProtective responseTherapeutic vulnerabilitiesPhysical irritantsCommon formInflammationDiversion techniquesDisordersFailure rateBrain Tumor Reporting and Data System: A Pictorial Review
Rao B, Ikuta I, Mahajan A, Karam A, Zohrabian V. Brain Tumor Reporting and Data System: A Pictorial Review. Neurographics 2021, 11: 175-185. DOI: 10.3174/ng.2000069.Peer-Reviewed Original ResearchBrain Tumor ReportingBrain tumorsBT-RADSTiming of therapyMalignant brain tumorsMR imaging featuresGrade IV gliomasPictorial review articleMost common formsSubstantial morbidityCNS tumorsPoor prognosisImaging featuresClinical assessmentNeurologic specialistPictorial reviewGlioblastoma multiformeNew classification systemPrimary gliomasTumorsData SystemCommon formRadiologic reportingTherapyGliomasTreating Seizures With Low-Frequency Electrical Stimulation
Bordey A. Treating Seizures With Low-Frequency Electrical Stimulation. Epilepsy Currents 2021, 21: 197-198. PMID: 34867103, PMCID: PMC8609597, DOI: 10.1177/15357597211003559.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMesial temporal lobe epilepsyLow-frequency stimulationTemporal lobe epilepsyLobe epilepsySeizure generationMouse modelElectrical low-frequency stimulationHippocampal low-frequency stimulationFrequency electrical stimulationHippocampal sclerosisSclerotic hippocampusSeizure controlSeizure generalizationGeneralized seizuresSpontaneous seizuresPharmacoresistant epilepsyDaily stimulationGranule cellsElectrical stimulationEpilepsySeizuresCommon formStimulationHippocampusSlice experimentsMolecular subtyping of Alzheimer’s disease using RNA sequencing data reveals novel mechanisms and targets
Neff R, Wang M, Vatansever S, Guo L, Ming C, Wang Q, Wang E, Horgusluoglu-Moloch E, Song W, Li A, Castranio E, Julia T, Ho L, Goate A, Fossati V, Noggle S, Gandy S, Ehrlich M, Katsel P, Schadt E, Cai D, Brennand K, Haroutunian V, Zhang B. Molecular subtyping of Alzheimer’s disease using RNA sequencing data reveals novel mechanisms and targets. Science Advances 2021, 7: eabb5398. PMID: 33523961, PMCID: PMC7787497, DOI: 10.1126/sciadv.abb5398.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseMouse modelAD mouse modelDiverse pathophysiologic mechanismsTau-mediated neurodegenerationMajor molecular subtypesSpecific mouse modelsPathophysiologic mechanismsHuman trialsMolecular subtypesImmune activityHeterogeneous diseaseAD cohortAD subtypesBrain regionsSynaptic signalingMolecular subtypingSubtype heterogeneityDiseaseCommon formPrecision medicineMultiscale network analysisDevastating diseaseMolecular heterogeneitySubtypes
2020
Thalamic tumors in children: case series from our institution and literature review
Renedo D, Ferraro F, Johnson A, Argañaraz R, Giovannini S, Zabala J, Zemma E, Mantese B. Thalamic tumors in children: case series from our institution and literature review. Child's Nervous System 2020, 37: 457-463. PMID: 32712861, DOI: 10.1007/s00381-020-04830-0.Peer-Reviewed Original ResearchConceptsThalamic tumorsCase seriesSurgical approachStereotactic-guided biopsyGross total resectionEndoscopic third ventriculostomyGrade IV tumorsHigh-grade tumorsInvasive surgical proceduresTime of treatmentSubtotal resectionMedian ageVentriculoperitoneal shuntMotor deficitsGrade IIIThird ventriculostomyGrade IGrade IIObservational studySurgical proceduresPatientsResultsFrom 2013TumorsCommon formResectionGlioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions
Wen PY, Weller M, Lee EQ, Alexander BM, Barnholtz-Sloan JS, Barthel FP, Batchelor TT, Bindra RS, Chang SM, Chiocca EA, Cloughesy TF, DeGroot JF, Galanis E, Gilbert MR, Hegi ME, Horbinski C, Huang RY, Lassman AB, Le Rhun E, Lim M, Mehta MP, Mellinghoff IK, Minniti G, Nathanson D, Platten M, Preusser M, Roth P, Sanson M, Schiff D, Short SC, Taphoorn MJB, Tonn JC, Tsang J, Verhaak RGW, von Deimling A, Wick W, Zadeh G, Reardon DA, Aldape KD, van den Bent MJ. Glioblastoma in adults: a Society for Neuro-Oncology (SNO) and European Society of Neuro-Oncology (EANO) consensus review on current management and future directions. Neuro-Oncology 2020, 22: 1073-1113. PMID: 32328653, PMCID: PMC7594557, DOI: 10.1093/neuonc/noaa106.Peer-Reviewed Original ResearchConceptsNeuro-oncologyConsensus reviewCurrent managementMalignant primary brain tumorIsocitrate dehydrogenase-wildtype glioblastomaPrimary brain tumorsNovel therapiesViral therapyBrain tumorsImportant causeMolecular pathogenesisMolecular therapyEuropean AssociationTherapyEuropean SocietyCommon formGlioblastomaWildtype glioblastomaTumorsFuture directionsImportant advancesImmunotherapyMorbidityPatientsDNA damage response
2018
Cost Effectiveness of Meningococcal Serogroup B Vaccination in College-Aged Young Adults
Leeds IL, Namasivayam V, Bamogo A, Sankhla P, Thayer WM. Cost Effectiveness of Meningococcal Serogroup B Vaccination in College-Aged Young Adults. American Journal Of Preventive Medicine 2018, 56: 196-204. PMID: 30573332, PMCID: PMC6340776, DOI: 10.1016/j.amepre.2018.09.020.Peer-Reviewed Original ResearchConceptsQuality-adjusted life yearsMultivariable probabilistic sensitivity analysesUniversal vaccinationProbabilistic sensitivity analysesLife yearsSerogroup BSocietal perspectiveYoung adultsHealth sector perspectiveUniversal vaccination strategyNeisseria meningitidis serogroup BN. meningitidis serogroup BCost effectivenessU.S. vaccineB vaccinationMeningococcal infectionVaccination strategiesSpecific vaccinesVaccinationSensitivity analysisIncremental costOutbreak responseSector perspectiveCollege entryCommon formIschemic Colitis
Johnson D, Davis K. Ischemic Colitis. 2018, 311-323. DOI: 10.1007/978-3-319-96286-3_26.Peer-Reviewed Original ResearchMultisystem organ failureIschemic colitisAcute lower GIReversible clinical symptomsSevere ischemic colitisCardiac eventsPostoperative periodCardiac surgeryOrgan failureAnnual incidenceIschemic injuryClinical symptomsCommon subtypeTransmural necrosisGastrointestinal tractLower GIPatientsColitisPopulation agesCommon formMost casesSurgeryEtiologyInjurySymptomsVibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia
Amenta E, King HE, Petermann H, Uskoković V, Tommasini SM, Macica CM. Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia. Therapeutic Advances In Chronic Disease 2018, 9: 268-281. PMID: 30719271, PMCID: PMC6348532, DOI: 10.1177/2040622318804753.Peer-Reviewed Original ResearchUnaffected controlsPhosphate-wasting disordersWild-type micePersistent osteomalaciaDegenerative arthritisPeriodontal diseasePrimary teethPermanent teethFemoral cortical boneAdult disordersNeutral endopeptidaseHyp miceBone remodelingBiochemical milieuXLHCommon formCortical boneUse of dentinHypophosphatemiaSignificant differencesTeethInactivating mutationBoneUnaffected individualsMiceDrug-Induced Acute Kidney Injury
Luciano R, Perazella M. Drug-Induced Acute Kidney Injury. 2018, 145-163. DOI: 10.1007/978-1-4939-8628-6_9.Peer-Reviewed Original ResearchDrug-induced acute kidney injuryAcute kidney injuryKidney injuryAcute tubular injury/necrosisAcute interstitial nephritisFocal segmental glomerulosclerosisDrugs/substancesOsmotic nephropathyRisk patientsInterstitial nephritisKidney functionPrescribed medicationsSegmental glomerulosclerosisEarly identificationRenal compartmentsInjuryHarmful drugsTherapeutic agentsAdverse effectsCommon formDrugsMedicationsKidneyCommon problemDiagnostic agentsAnxiety Disorders in Children and Adolescents
Byrne S, Lebowitz E, Ollendick T, Silverman W. Anxiety Disorders in Children and Adolescents. 2018, 217-241. DOI: 10.1093/med-psych/9780190492243.003.0011.ChaptersChapter 13 Interstitial Lung Disease in the Connective Tissue Diseases
Antin-Ozerkis D, Rubinowitz A, Evans J, Homer R, Matthay R. Chapter 13 Interstitial Lung Disease in the Connective Tissue Diseases. 2018, 157-185. DOI: 10.1016/b978-0-323-48024-6.00013-6.Peer-Reviewed Original ResearchConnective tissue diseaseInterstitial lung diseaseCTD-ILDTissue diseaseLung diseaseIdiopathic interstitial lung diseaseFulminant respiratory failureRespiratory failureImmunosuppressive agentsHealthy patientsDrug reactionsFirst manifestationGradual onsetDiagnostic approachDiseaseCareful searchCommon formSubtle evidenceTreatmentDyspneaCorticosteroidsCoughPatientsInfectionDiagnosis
2017
Bayesian Cox Proportional Hazards Model in Survival Analysis of HACE1 Gene with Age at Onset of Alzheimer's Disease
Wang KS, Liu Y, Gong S, Xu C, Xie X, Wang L, Luo X. Bayesian Cox Proportional Hazards Model in Survival Analysis of HACE1 Gene with Age at Onset of Alzheimer's Disease. International Journal Of Clinical Biostatistics And Biometrics 2017, 3 PMID: 29430571, PMCID: PMC5806706, DOI: 10.23937/2469-5831/1510014.Peer-Reviewed Original ResearchCox proportional hazards modelCox regression modelProportional hazards modelRisk of ADAAO of ADHACE1 geneAlzheimer's diseaseSurvival analysisHazards modelHazard ratioSingle nucleotide polymorphismsBayesian Cox proportional hazards modelMultiple logistic regression modelRegression modelsConfidence intervalsChronic neurodegenerative diseasesLogistic regression modelsAD patientsOnset (AAO) of ADG haplotypeNeurodegenerative disordersNeurodegenerative diseasesDiseaseStrong associationCommon formCyclic seizures in critically ill patients: Clinical correlates, DC recordings and outcomes
Pinto LF, Gilmore EJ, Petroff OA, Sivaraju A, Rampal N, Hirsch LJ, Gaspard N. Cyclic seizures in critically ill patients: Clinical correlates, DC recordings and outcomes. Clinical Neurophysiology 2017, 128: 1083-1090. PMID: 28214108, DOI: 10.1016/j.clinph.2017.01.015.Peer-Reviewed Original ResearchConceptsCyclic seizuresProgressive brain injuryStatus epilepticusIll patientsClinical correlatesBrain injuryDC recordingsNon-convulsive status epilepticusEEG baselineNonconvulsive status epilepticusOlder patientsElectrographic seizuresWorse prognosisFocal onsetPoor outcomePrognostic significanceSeizure initiationPatientsInfraslow activitySeizuresCommon formEpilepticusFurther studiesPosterior regionInjury
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