2024
The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Hale A, Boudreau H, Devulapalli R, Duy P, Atchley T, Dewan M, Goolam M, Fieggen G, Spader H, Smith A, Blount J, Johnston J, Rocque B, Rozzelle C, Chong Z, Strahle J, Schiff S, Kahle K. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact. Fluids And Barriers Of The CNS 2024, 21: 24. PMID: 38439105, PMCID: PMC10913327, DOI: 10.1186/s12987-024-00513-z.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidOverview of genesEtiology of HCPathogenesis of HCChoroid plexus cauterizationEndoscopic third ventriculostomyIncreased intracranial pressureGenetic architectureGenetic basisImpact of geneticsVentricular shuntSurgical treatmentThird ventriculostomyPhenotypic heterogeneityHeterogeneous diseasePharmacological treatmentGenetic syndromesMolecular pathogenesisIntracranial pressureHydrocephalusTherapeutic measuresGenesGeneticsBrain injuryPathway
2023
Recent Advances in Genitourinary Tumors: Updates From the 5th Edition of the World Health Organization Blue Book Series.
Riddle N, Parkash V, Guo C, Shen S, Perincheri S, Ramirez A, Auerbach A, Belchis D, Humphrey P. Recent Advances in Genitourinary Tumors: Updates From the 5th Edition of the World Health Organization Blue Book Series. Archives Of Pathology & Laboratory Medicine 2023, 148: 952-964. PMID: 38031818, DOI: 10.5858/arpa.2022-0509-ra.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMale genital tumorsWorld Health Organization classificationGenital tumorsOrganization classificationClinical practiceDate clinical practiceRoutine clinical practiceWorld Health OrganizationUrinary tumorsGenitourinary tumorsSimilar tumorsDiagnostic criteriaTumor seriesTumorsGenetic syndromesOrgan systemsHealth OrganizationComprehensive updateUrinaryNew entitySyndromeGenomic terminology
2022
Differences in the management of thyroid nodules in children and adolescents as compared to adults
Goldfarb M, Dinauer C. Differences in the management of thyroid nodules in children and adolescents as compared to adults. Current Opinion In Endocrinology Diabetes And Obesity 2022, 29: 466-473. PMID: 35777975, DOI: 10.1097/med.0000000000000754.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsPediatric thyroid nodulesThyroid nodulesFine-needle aspiration biopsyRisk of malignancyRisk stratification systemSpecific risk factorsAppropriate imaging modalityNeedle aspiration biopsyCertain genetic syndromesYounger patientsNonoperative approachClinical managementRadiofrequency ablationRisk factorsPretest probabilityAspiration biopsyMiRNA classifierSpecific molecular testsMolecular testingUltrasound characteristicsAge groupsGenetic syndromesClinical usePatientsBenign nodules
2020
NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020.
Provenzale D, Ness RM, Llor X, Weiss JM, Abbadessa B, Cooper G, Early DS, Friedman M, Giardiello FM, Glaser K, Gurudu S, Halverson AL, Issaka R, Jain R, Kanth P, Kidambi T, Lazenby AJ, Maguire L, Markowitz AJ, May FP, Mayer RJ, Mehta S, Patel S, Peter S, Stanich P, Terdiman J, Keller J, Dwyer MA, Ogba N. NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 1312-1320. PMID: 33022639, PMCID: PMC8311627, DOI: 10.6004/jnccn.2020.0048.Peer-Reviewed Original ResearchConceptsColorectal cancer screeningNCCN guidelinesCancer screeningAverage-risk individualsNCCN Guidelines InsightsLow-risk adenomasCRC preventionSporadic CRCScreening scheduleRisk individualsGenetic syndromesPanel recommendationsPatientsRecent updatesCRCScreeningGuidelinesAdenomasSyndromePhysiciansPreventionGenetic Stroke Syndromes
Falcone G, Amin H. Genetic Stroke Syndromes. 2020, 123-133. DOI: 10.1007/978-3-030-52552-1_10.Peer-Reviewed Original ResearchClinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
Yekula A, Grant C, Gupta M, Santiago-Dieppa DR, Duddleston PJ, Gonda D, Levy M. Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion. Child's Nervous System 2020, 36: 1367-1377. PMID: 32399800, PMCID: PMC7300078, DOI: 10.1007/s00381-020-04642-2.Peer-Reviewed Original ResearchConceptsPierre Robin sequenceSpinal diseaseTethered cordEarly genetic testingMagnetic resonance imagingOutpatient checkupsPRS patientsAirway obstructionNeurological assessmentPatient populationRobin sequenceClinical managementDisease burdenSpinal cordMotor functionSacral dimpleSpinal disordersSpinal pathologyPatientsSystematic reviewTerminal deletionResonance imagingClinical screeningChromosome 10qGenetic syndromes
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 development
2018
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.Peer-Reviewed Original ResearchConceptsMidaortic syndromeWhole-exome sequencingExome sequencingVascular diseaseMonogenic causesExtensive vascular diseaseSevere childhood hypertensionGenotype/phenotype correlationChildhood hypertensionRare causeEtiologic diagnosisInflammatory diseasesAbdominal aortaMolecular genetic diagnosisGenetic syndromesSyndromic diseaseWhole-exome sequencing dataDiseaseSyndromePhenotype correlationGenetic diagnosisExome sequencing dataDiagnosisCauseHigh percentage
2013
Primary dystonias and genetic disorders with dystonia as clinical feature of the disease
Moghimi N, Jabbari B, Szekely AM. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease. European Journal Of Paediatric Neurology 2013, 18: 79-105. PMID: 23911094, DOI: 10.1016/j.ejpn.2013.05.015.Peer-Reviewed Original ResearchConceptsPrimary dystoniaClinical featuresSustained muscle contractionsCharacteristic clinical featuresClinical entityAbnormal postureMovement disordersDystoniaClinical practiceClinical phenomenologyAdvances of geneticsGenetic syndromesMuscle contractionRepetitive movementsUnderlining etiologiesDisordersCommon formMonogenic disordersGenetic disordersMolecular underpinningsDetailed searchMendelian disordersComplex casesLarge groupSyndrome
2012
Management of Ovarian and Testicular Sex Cord-stromal Tumors in Children and Adolescents
Schultz KA, Schneider DT, Pashankar F, Ross J, Frazier L. Management of Ovarian and Testicular Sex Cord-stromal Tumors in Children and Adolescents. Journal Of Pediatric Hematology/Oncology 2012, 34: s55-s63. PMID: 22525408, DOI: 10.1097/mph.0b013e31824e3867.Peer-Reviewed Original ResearchConceptsSex cord-stromal tumorsTesticular sex cord-stromal tumorsOvarian sex cord-stromal tumorsManagement of ovarianTesticular stromal tumorsHigh-risk diseaseGerm cell neoplasmsOptimal treatment strategyMultiagent chemotherapyObstetrics classificationPalpable massBenign courseRisk diseaseStromal tumorsRare tumorSpecific genetic syndromesOvarian carcinomaCell neoplasmsTreatment strategiesHormone productionTumorsGenetic syndromesInternational FederationAdditional researchChildren
2007
GLIOGENE—an International Consortium to Understand Familial Glioma
Malmer B, Adatto P, Armstrong G, Barnholtz-Sloan J, Bernstein JL, Claus E, Davis F, Houlston R, Il'yasova D, Jenkins R, Johansen C, Lai R, Lau C, McCarthy B, Nielsen H, Olson SH, Sadetzki S, Shete S, Wiklund F, Wrensch M, Yang P, Bondy M. GLIOGENE—an International Consortium to Understand Familial Glioma. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1730-1734. PMID: 17855690, DOI: 10.1158/1055-9965.epi-07-0081.Peer-Reviewed Original ResearchConceptsNew genomic regionsGlioma familiesSingle nucleotide polymorphism (SNP) approachFamilial gliomaGenomic regionsGlioma genesLinkage analysisGenesPolymorphism approachLinkage studiesInternational ConsortiumNorth AmericaFamilyLi-Fraumeni syndromeFamilial aggregationDevastating cancerLociTurcot syndromeGenetic syndromesConsortiumGliomagenesisInherited factorsType 1GliomasTuberous sclerosisApparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Guzel A, Tatli M, Bilguvar K, DiLuna ML, Bakkaloglu B, Ozturk AK, Bayrakli F, Gunel M. Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts. American Journal Of Medical Genetics Part A 2007, 143A: 672-677. PMID: 17343267, DOI: 10.1002/ajmg.a.31640.Peer-Reviewed Original ResearchConceptsArachnoid cystCerebral anomaliesMental retardationAutosomal recessive inheritanceSeizure disorderNovel genetic syndromeCentrum semiovaleLack of mutationsPerivascular spacesWhite matterNew syndromeGenetic syndromesLissencephaly geneSyndromeCystsRecessive inheritancePachygyriaSeizuresConsanguineous familyRetardationNew phenotypesPatients
1995
Unique Profile of Visuo-Perceptual Skills in a Genetic Syndrome
Wang P, Doherty S, Rourke S, Bellugi U. Unique Profile of Visuo-Perceptual Skills in a Genetic Syndrome. Brain And Cognition 1995, 29: 54-65. PMID: 8845123, DOI: 10.1006/brcg.1995.1267.Peer-Reviewed Original ResearchConceptsRight hemisphere damageWilliams syndromeDown syndromeVisuo-perceptual skillsProfiles of performanceVisuo-constructive skillsDorsal visual pathwayNeuropsychological profileProcessing biasesClusters of skillsHemisphere damageFacial discriminationPerceptual tasksWS subjectsWS profileLinguistic skillsPerceptual skillsYoung adultsCerebral cortexVisual pathwayFunctional dichotomySkillsGenetic syndromesSubjectsCortex
1994
Evidence from two genetic syndromes for a dissociation between verbal and visual-spatial short-term memory
Wang P, Bellugi U. Evidence from two genetic syndromes for a dissociation between verbal and visual-spatial short-term memory. Journal Of Clinical And Experimental Neuropsychology 1994, 16: 317-322. PMID: 8021317, DOI: 10.1080/01688639408402641.Peer-Reviewed Original ResearchConceptsShort-term memory taskMemory taskVerbal short-term memory taskVisual-spatial short-term memoryPatterns of brain morphologyVisual-spatial stimuliDown syndromeNeuropsychological profileDouble dissociationShort-term memoryWilliams syndromeNeurogenetic evidenceAbility of subjectsBrain morphologyAbnormal neurodevelopmentShort-term storageGenetic syndromesTaskUnique patternVerbalMemoryStimuliNeurodevelopmentSubjectsEvidence
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