2025
Generics, Biosimilars and Follow‐On Non‐Biologic Complex Drugs for Multiple Sclerosis: A Narrative Review of the Regulatory and Clinical Implications for European Neurologists
Berger T, Zeitlinger M, Popescu V, Magyari M, Airas L, Alkhawajah M, Pugliatti M, Zakaria M, Pozzilli C, Drulovic J, Van Wijmeersch B, Vermersch P, Oreja‐Guevara C. Generics, Biosimilars and Follow‐On Non‐Biologic Complex Drugs for Multiple Sclerosis: A Narrative Review of the Regulatory and Clinical Implications for European Neurologists. European Journal Of Neurology 2025, 32: e70140. PMID: 40231751, PMCID: PMC11998027, DOI: 10.1111/ene.70140.Peer-Reviewed Original ResearchConceptsDisease-modifying treatmentsNon-biological complex drugsImprove patient accessLiterature searchMultiple sclerosisMS careHealthcare systemPatient accessComplex drugsPubMed literature searchSocioeconomic burdenNarrative reviewTolerability profileGlatiramer acetateClinical efficacyClinical studiesEarly onsetEuropean neurologistsClinical implicationsProgressive natureDrugSclerosisOriginal drugPeopleCare
2023
Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
Zhuang J, Aierken A, Yalikun D, Zhang J, Wang X, Ren Y, Tian X, Jiang H. Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease. Frontiers In Medicine 2023, 10: 1268307. PMID: 37901409, PMCID: PMC10600478, DOI: 10.3389/fmed.2023.1268307.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseaseWhole-exome sequencingNovel mutation sitesDisease progressionNovel PKD1 mutationChronic kidney diseaseRapid disease progressionGene mutationsGenotype-phenotype characteristicsPeripheral blood DNAPersonalized therapeutic strategiesAge of onsetMilder disease phenotypeCommon genetic disorderAutosomal dominant inheritancePolycystic liverADPKD patientsChinese patientsClinical dataTherapeutic strategiesClinical phenotypeEarly onsetDoes polygenic risk for substance‐related traits predict ages of onset and progression of symptoms?
Kranzler H, Feinn R, Xu H, Ho B, Saini D, Nicastro O, Jacoby A, Toikumo S, Gelernter J, Hartwell E, Kember R. Does polygenic risk for substance‐related traits predict ages of onset and progression of symptoms? Addiction 2023, 118: 1675-1686. PMID: 37069489, PMCID: PMC10525011, DOI: 10.1111/add.16210.Peer-Reviewed Original ResearchConceptsOpioid use disorderSubstance use disordersProgression of symptomsPolygenic risk scoresAlcohol use disorderUse disordersAfrican ancestry individualsGenetic riskRegular useEuropean ancestry individualsEarly onsetMore rapid progressionRegular alcohol useShorter progression timeAge of onsetFirst substance useDiscovery sampleUS inpatientsOnset of problemsOutpatient settingDisease progressionRapid progressionSymptom progressionRisk scoreGenome-wide association studies
2022
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases
Zhao X, Lin Y, Liou B, Fu W, Jian J, Fannin V, Zhang W, Setchell K, Grabowski G, Sun Y, Liu C. PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 120: e2210442120. PMID: 36574647, PMCID: PMC9910439, DOI: 10.1073/pnas.2210442120.Peer-Reviewed Original ResearchConceptsBlood-brain barrierParkinson's diseaseGaucher diseasePGRN deficiencyPD-like phenotypesRelevant mouse modelRare lysosomal storage diseaseCommon neurodegenerative disorderVisceral symptomsNeurobehavioral deficitsSevere neuroinflammationPD pathologyLysosomal storage diseaseTherapeutic studiesMouse modelNeuronopathic involvementProgranulinImpaired autophagyNeurodegenerative disordersGD phenotypeEarly onsetMiceDiseaseFirst linePathologyEpigenome‐wide association study of BMI in Black populations from InterGEN and GENOA
Taylor J, Huang Y, Zhao W, Wright M, Wang Z, Hui Q, Potts‐Thompson S, Barcelona V, Prescott L, Yao Y, Crusto C, Kardia S, Smith J, Sun Y. Epigenome‐wide association study of BMI in Black populations from InterGEN and GENOA. Obesity 2022, 31: 243-255. PMID: 36479596, PMCID: PMC10107734, DOI: 10.1002/oby.23589.Peer-Reviewed Original ResearchConceptsObesity-associated conditionsSignificant public health concernAssociation of BMIPeripheral blood samplesLinear mixed-effects regression modelsBlack populationPublic health concernMixed-effects regression modelsBlack womenCross-sectional analysisEpigenome-wide DNA methylationIllumina EPIC BeadChipDevelopment of diseaseCardiometabolic disordersDiscovery cohortBlood samplesBMIHigh incidenceEarly onsetGENOA studyObesityHealth concernCohortDNAm sitesDNA methylationLB901 Inflammaging in human skin: Early onset of senescence and imbalanced epidermal homeostasis across the decades
Oblong J, Jarrold B, Tan C, Ho C, Soon A, Lam T, Yang X, Nguyen C, Guo W, Chew Y, DeAngelis Y, Costello L, De Los Santos Gomez P, Przyborski S, Bellanger S, Dreesen O, Kimball A. LB901 Inflammaging in human skin: Early onset of senescence and imbalanced epidermal homeostasis across the decades. Journal Of Investigative Dermatology 2022, 142: b9. DOI: 10.1016/j.jid.2022.05.919.Peer-Reviewed Original ResearchLatency to treatment seeking in patients with obsessive-compulsive disorder: Results from a large multicenter clinical sample
Costa D, de Campos A, Pereira C, Torres A, Dos Santos A, Requena G, Ferrão Y, do Rosário M, Miguel E, Simpson H, Shavitt R, Diniz J. Latency to treatment seeking in patients with obsessive-compulsive disorder: Results from a large multicenter clinical sample. Psychiatry Research 2022, 312: 114567. PMID: 35490573, DOI: 10.1016/j.psychres.2022.114567.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderEarly onsetOne-thirdCross-sectional studyInterval-censored survival modelClinical characteristicsOlder patientsSymptom awarenessPatientsNeuropsychiatric disordersSymptomsOlder ageOCD patientsContamination/Clinical samplesDisordersAggression symptomsOCD symptomsMore yearsTreatmentSurvival modelsOnsetYearsFull-time employmentComorbiditiesLiver metabolomics identifies bile acid profile changes at early stages of alcoholic liver disease in mice
Charkoftaki G, Tan WY, Berrios-Carcamo P, Orlicky DJ, Golla JP, Garcia-Milian R, Aalizadeh R, Thomaidis NS, Thompson DC, Vasiliou V. Liver metabolomics identifies bile acid profile changes at early stages of alcoholic liver disease in mice. Chemico-Biological Interactions 2022, 360: 109931. PMID: 35429548, PMCID: PMC9364420, DOI: 10.1016/j.cbi.2022.109931.Peer-Reviewed Original ResearchConceptsAlcoholic liver diseaseEthanol-consuming miceAlcohol consumptionLiver diseaseDevelopment of ALDBile acid changesChronic alcohol drinkingChronic alcohol consumptionLieber-DeCarli dietAlcohol-induced alterationsGlobal healthcare problemBile acid biosynthesisAlcohol drinkingLiver histopathologyTissue injuryClinical consequencesUntargeted metabolomics analysisEarly stagesComplex pathologyMinimal changesUntargeted metabolomics approachEarly onsetHealthcare problemMiceLiverThe importance of an early onset of migraine prevention: an evidence-based, hypothesis-driven scoping literature review
Gottschalk C, Buse DC, Marmura MJ, Torphy B, Pavlovic JM, Dumas PK, Lalvani N, Blumenfeld A. The importance of an early onset of migraine prevention: an evidence-based, hypothesis-driven scoping literature review. Therapeutic Advances In Neurological Disorders 2022, 15: 17562864221095902. PMID: 35662957, PMCID: PMC9160905, DOI: 10.1177/17562864221095902.Peer-Reviewed Original ResearchMigraine preventionEarly onsetDay 1Migraine daysAvailable clinical trial evidenceAnti-CGRP monoclonal antibodiesFirst treatment weekMigraine preventive therapyMigraine preventive treatmentTraditional oral agentsWeekly migraine daysClinical trial evidenceLeast moderate severityPatient-level outcomesRelevant benefitsOnset preventionOral agentsPreventive therapyChronic migraineMigraine frequencyTrial evidenceTreatment weekPreventive treatmentModerate severityPreventive benefitsThe importance of an early onset of migraine preventive disease control: A roundtable discussion
Gottschalk C, Basu A, Blumenfeld A, Torphy B, Marmura M, Pavlovic J, Dumas P, Lalvani N, Buse D. The importance of an early onset of migraine preventive disease control: A roundtable discussion. Cephalalgia Reports 2022, 5: 25158163221134593. DOI: 10.1177/25158163221134593.Peer-Reviewed Original ResearchEarly onsetDisease controlPreventive therapyMigraine activityAnti-calcitonin gene-related peptide monoclonal antibodyMigraine preventive therapyBurden of migrainePeptide monoclonal antibodyRoundtable of expertsMigraine preventionTreatment initiationPreventive benefitsClinical studiesTreatment expectationsClinical relevancePatientsDrug AdministrationPatient advocatesTherapy goalsHealthcare professionalsMonoclonal antibodiesRoundtable meetingPreventionGrey literatureProfessionals' perceptions
2021
Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach
Yeung EW, Spychala KM, Miller AP, Otto JM, Deak JD, Kim H, Gilder DA, Ehlers CL, Wilhelmsen KC, Gizer IR. Effects of genetic risk for alcohol dependence and onset of regular drinking on the progression to alcohol dependence: A polygenic risk score approach. Drug And Alcohol Dependence 2021, 230: 109117. PMID: 34844060, PMCID: PMC8714681, DOI: 10.1016/j.drugalcdep.2021.109117.Peer-Reviewed Original ResearchConceptsRate of progressionRegular drinkingAlcohol dependenceCox proportional hazards regression analysisProportional hazards regression analysisEarly onsetGenetic riskHazards regression analysisHazard of progressionMixed-effects logistic regressionEuropean-ancestry adultsHigh clinical relevanceAD risk variantsEffects logistic regressionAD independentPolygenic risk score approachClinical courseRapid progressionAD preventionFaster progressionPolygenic risk scoresRisk scoreClinical relevanceLate onsetAD diagnosis
2020
Brain Function Differences in Children With Type 1 Diabetes: A Functional MRI Study of Working Memory
Foland-Ross LC, Tong G, Mauras N, Cato A, Aye T, Tansey M, White NH, Weinzimer SA, Englert K, Shen H, Mazaika PK, Reiss AL, Tsalikian E, Tansey M, Coffey J, Cabbage J, Salamat S, Bisbee R, Mauras N, Fox L, Cato A, Englert K, Sikes K, Ewen T, Bird K, Buckingham B, Wilson D, Aye T, Kingman R, Weinzimer S, Tamborlane W, Ambrosino J, Steffen A, Weyman K, Zgorski M, White N, Arbelaez A, Levandoski L, Starnes A, Hershey T, Reiss A, Foland-Ross L, Marzelli M, Mazaika P, Tong G, Sperling M, Becker D, Cleary P, Greenbaum C, Moran A. Brain Function Differences in Children With Type 1 Diabetes: A Functional MRI Study of Working Memory. Diabetes 2020, 69: 1770-1778. PMID: 32471809, PMCID: PMC7372069, DOI: 10.2337/db20-0123.Peer-Reviewed Original ResearchConceptsType 1 diabetesImproved glycemic controlBrain function differencesFunctional MRI studyGreater modulationDiabetes groupGlycemic controlFrontoparietal cortexMRI studiesControl groupDiabetesType 1Functional MRICompensatory mechanismsEarly onsetBrain activationVisuospatial Working Memory TaskChildrenN-back taskMemory functionEarly ageMemory abilityWorking Memory TaskFuture studiesActivationMaternal Diabetes During Pregnancy and Early Onset of Cardiovascular Disease in Offspring: Population Based Cohort Study With 40 Years of Follow Up
Yu Y, Arah O, Liew Z, Cnattingius S, Olsen J, Sørensen H, Qin G, Li J. Maternal Diabetes During Pregnancy and Early Onset of Cardiovascular Disease in Offspring: Population Based Cohort Study With 40 Years of Follow Up. Obstetrical & Gynecological Survey 2020, 75: 277-279. DOI: 10.1097/01.ogx.0000666220.44880.94.Peer-Reviewed Original Research
2019
Two well-differentiated pancreatic neuroendocrine tumor mouse models
Wong C, Tang LH, Davidson C, Vosburgh E, Chen W, Foran DJ, Notterman DA, Levine AJ, Xu EY. Two well-differentiated pancreatic neuroendocrine tumor mouse models. Cell Death & Differentiation 2019, 27: 269-283. PMID: 31160716, PMCID: PMC7206057, DOI: 10.1038/s41418-019-0355-0.Peer-Reviewed Original ResearchConceptsMultiple endocrine neoplasia type 1Neuroendocrine tumorsMouse modelShort latencyPI3K/Akt/mTORPancreatic neuroendocrine tumorsPituitary neuroendocrine tumorsTumor mouse modelAkt/mTORMTOR inhibitor rapamycinCre-loxP systemNeuroendocrine cancerProlonged survivalProlonged latencyMEN1 patientsMouse insulin 1 promoterSame miceMen1 lossTherapeutic opportunitiesType 1Genetic syndromesPTEN lossEarly onsetTumorsTumor developmentPsychometric liability to psychosis and childhood adversities are associated with shorter telomere length: A study on schizophrenia patients, unaffected siblings, and non-clinical controls
Çevik B, Mançe-Çalışır Ö, Atbaşoğlu E, Saka M, Alptekin K, Üçok A, Sırmatel B, Gülöksüz S, Tükün A, van Os J, Gümüş-Akay G. Psychometric liability to psychosis and childhood adversities are associated with shorter telomere length: A study on schizophrenia patients, unaffected siblings, and non-clinical controls. Journal Of Psychiatric Research 2019, 111: 169-185. PMID: 30776705, DOI: 10.1016/j.jpsychires.2019.01.022.Peer-Reviewed Original ResearchConceptsShorter telomere lengthLonger telomere lengthChildhood adversityTelomere lengthUnaffected siblingsSCZ patientsChronic medical disordersCourse of schizophreniaSimilar telomere lengthPsychotic-like symptomsHypothesis patientsClinical presentationNon-clinical controlsMedical disordersGeneral populationFunctioning scoresPatientsSchizophrenia patientsSocio-demographic featuresGlobal assessmentEarly onsetSchizophreniaLife expectancyAges 0Potential roleARHGAP18: A Flow‐Responsive Gene That Regulates Endothelial Cell Alignment and Protects Against Atherosclerosis
Lay AJ, Coleman PR, Formaz‐Preston A, Ting KK, Roediger B, Weninger W, Schwartz MA, Vadas MA, Gamble JR. ARHGAP18: A Flow‐Responsive Gene That Regulates Endothelial Cell Alignment and Protects Against Atherosclerosis. Journal Of The American Heart Association 2019, 8: e010057. PMID: 30630384, PMCID: PMC6497359, DOI: 10.1161/jaha.118.010057.Peer-Reviewed Original ResearchConceptsApolipoprotein EHigh-fat diet-induced modelIntercellular adhesion molecule-1Endothelial nitric oxide synthaseHigh-fat dietDevelopment of atherosclerosisNitric oxide synthaseDiet-induced modelAdhesion molecule-1Double mutant miceAortic diseaseAtherosclerosis developmentInflammatory phenotypeOxide synthaseMolecule-1AtherosclerosisEarly onsetProtective genesMiceFlow-responsive genesAtheroprotective regionsEndothelial cell alignmentAdaptive responseAnalysis of ECEC ability
2018
The Association Between Cannabinoids and Psychosis
Tikka S, D’Souza D. The Association Between Cannabinoids and Psychosis. 2018, 127-155. DOI: 10.1007/978-3-319-90365-1_14.Peer-Reviewed Original ResearchChronic psychotic disordersPsychotic disordersClinical interventionsPsychosis outcomesEmergency department visitsOnset of psychosisPotent synthetic cannabinoidCannabinoid receptor agonistsSignificant clinical interventionHigh rateDuration of intoxicationCannabinoid exposureDepartment visitsCumulative doseReceptor agonistCannabinoid hypothesisClinical significancePeriod of intoxicationCannabinoid productsCannabis useEarly onsetPsychosisPotency of cannabisCannabinoidsRecreational cannabisPreimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease
Murphy EL, Droher ML, DiMaio MS, Dahl NK. Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease. American Journal Of Kidney Diseases 2018, 72: 866-872. PMID: 29606500, DOI: 10.1053/j.ajkd.2018.01.048.Peer-Reviewed Original ResearchConceptsEnd-stage renal diseaseAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseKidney diseasePolycystic kidney diseasePreimplantation genetic diagnosisDisease burdenHeight-adjusted total kidney volumeChronic kidney diseaseSignificant disease burdenAge 35 yearsTotal kidney volumeCommon hereditary formAssisted Reproductive TechnologyFluid-filled cystsRenal diseaseHepatic cystsKidney volumeFamily historyHigh riskHereditary formsIntracranial aneurysmsGenetic testingEarly onsetUrologic eventsGenetic variants in the LAMA5 gene in pediatric nephrotic syndrome
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology Dialysis Transplantation 2018, 34: 485-493. PMID: 29534211, PMCID: PMC6399483, DOI: 10.1093/ndt/gfy028.Peer-Reviewed Original ResearchConceptsSteroid-resistant NSNephrotic syndromeDevelopment of NSMonogenic causesChronic kidney diseaseChildhood-onset casesPediatric nephrotic syndromeWhole-exome sequencingGenetic variantsGlomerular basement membranePediatric NSSRNS genesImmunosuppressive therapyPediatric patientsClinical outcomesKidney diseaseMouse modelFamilial occurrenceUnknown significanceEarly onsetHomozygous variantExome sequencingDiseaseNS phenotypeDisease management
2017
Adult Attention Deficit Hyperactivity Disorder in Patients with Substance Use Disorders: A Study from Southern India
Ganesh S, Kandasamy A, Sahayaraj U, Benegal V. Adult Attention Deficit Hyperactivity Disorder in Patients with Substance Use Disorders: A Study from Southern India. Indian Journal Of Psychological Medicine 2017, 39: 59-62. PMID: 28250560, PMCID: PMC5329993, DOI: 10.4103/0253-7176.198945.Peer-Reviewed Original ResearchAttention deficit hyperactivity disorderSubstance use disordersPrevalence of ADHDDeficit hyperactivity disorderTreatment-seeking patientsHyperactivity disorderAdult ADHD Self-Report Scale (ASRS-v1.1) Symptom ChecklistAdult attention deficit hyperactivity disorderOppositional defiant disorderUse disordersDisorders of childhoodInattention domainADHD scoresDefiant disorderConduct disorderDevelopmental disordersSymptom ChecklistSUD patientsLater leadIndependent samplesLarge sampleEarly onsetLate-onset subtypesDependent groupEarly-onset group
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