2025
Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis
Fisch S, Tudor A, Benchekroun E, Landsberg W, Feldstein N, Lamb M, Carpenter T, Rundle A, Jacobson J, Neugut A, Freedberg D. Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis. Bone 2025, 196: 117488. PMID: 40220947, DOI: 10.1016/j.bone.2025.117488.Peer-Reviewed Original ResearchX-linked hypophosphatemiaPrevalence of craniosynostosisPooled prevalenceSystematic reviewMeta-analysisRandom-effects modelWeb of SciencePediatric populationSkull abnormalitiesCohort studyImpaired phosphate reabsorptionElevated FGF23 levelsPrevalenceFemale predominanceCase seriesFGF23 levelsPhosphate reabsorptionGene variantsChildrenIncreased vigilanceCraniosynostosisAbnormal bone growthGenetic disordersHypophosphatemiaAbnormalitiesChapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.ChaptersTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2024
Characterizing Cochlear Implant Trans-Impedance Matrix Heatmaps in Patients With Abnormal Anatomy
Cottrell J, Winchester A, Friedmann D, Jethanamest D, Spitzer E, Svirsky M, Waltzman S, Shapiro W, McMenomey S, Roland J. Characterizing Cochlear Implant Trans-Impedance Matrix Heatmaps in Patients With Abnormal Anatomy. Otology & Neurotology 2024, 45: e630-e638. PMID: 39190800, DOI: 10.1097/mao.0000000000004304.Peer-Reviewed Original ResearchConceptsLabyrinthine abnormalitiesTransimpedance matrixBasal turnIntraoperative X-rayGroup of patientsNormal X-raysInterscalar septumRetrospective reviewPostoperative imagingCochlear implantationAbnormal anatomyPatientsAbnormalitiesMalformationsRiskCoil electrodeMalpositionSurgeonsCochleaSeptumVariantsImplantationLarge B‐cell lymphoma with mystery rearrangement: Applying Hi‐C to the detection of clinically relevant structural abnormalities
Prior D, Schmitt A, Louissaint A, Mata D, Massaro S, Nardi V, Xu M. Large B‐cell lymphoma with mystery rearrangement: Applying Hi‐C to the detection of clinically relevant structural abnormalities. British Journal Of Haematology 2024, 205: 1225-1229. PMID: 38924537, DOI: 10.1111/bjh.19611.Peer-Reviewed Original ResearchImpact of jugular vein ligation on cerebrospinal fluid clearance from G-lymphatic system in mice
Ruze A, Mouton L, Singhabahu R, Gottschalk J, Spajer M, Thomas J, Lenck S, Santin M. Impact of jugular vein ligation on cerebrospinal fluid clearance from G-lymphatic system in mice. Proceedings Of The International Society For Magnetic Resonance In Medicine ... Scientific Meeting And Exhibition. 2024 DOI: 10.58530/2024/1185.Peer-Reviewed Original ResearchJugular vein ligationVein ligationBilateral jugular vein ligationVenous outflow abnormalitiesCerebrospinal fluid clearanceCerebral blood flowFluid clearanceOutflow abnormalitiesLymphatic perfusionPost-surgeryLymphatic flowFluid homeostasisBrain volumetryBlood flowMiceCerebrovascular changesNeurological disordersLigationProgressive alterationBrainBaselineSystem's roleHypertensionAbnormalitiesCNSAbnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
Zarate Y, Bosanko K, Derar N, Fish J. Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome. Clinical Genetics 2024, 106: 209-213. PMID: 38693682, PMCID: PMC11216868, DOI: 10.1111/cge.14540.Peer-Reviewed Original ResearchConceptsSATB2-associated syndromeMutant miceAutosomal dominant disorderAnalyzed mutant miceEmbryonic mouse developmentDental anomaliesCraniofacial abnormalitiesMandibular distractionTrigeminal gangliaCraniofacial phenotypeClinical phenotypeDominant disorderCraniofacial developmentMouse developmentMicePhenotypic aspectsPatient dataThyroidSyndromeAbnormalitiesLower jawPharyngeal arch-derived structuresSATB2Mandibular morphologyPhenotypePregnancy Termination Policy and Cleft Lip and Palate
Junn A, Spoer D, Koh M, Berger L, Zuckerman H, Baker S, DeLia D, Fan K. Pregnancy Termination Policy and Cleft Lip and Palate. Plastic & Reconstructive Surgery 2024, 155: 119e-131e. PMID: 38507555, DOI: 10.1097/prs.0000000000011417.Peer-Reviewed Original ResearchCongenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations
Guarnera A, Valente P, Pasquini L, Moltoni G, Randisi F, Carducci C, Carboni A, Lucignani G, Napolitano A, Romanzo A, Longo D, Gandolfo C, Rossi-Espagnet M. Congenital Malformations of the Eye: A Pictorial Review and Clinico‐Radiological Correlations. Journal Of Ophthalmology 2024, 2024: 5993083. PMID: 38322500, PMCID: PMC10846927, DOI: 10.1155/2024/5993083.Peer-Reviewed Original ResearchOcular malformationsCongenital malformationsPictorial reviewWeeks of gestationClinico-radiological correlationOphthalmologic evaluationOphthalmological findingsMalformation severityImaging findingsMalformationsComplex syndromeQuality of lifeImaging protocolVision impairmentHeterogeneous spectrumAbnormalitiesClinical radiologistsEye formationGenetic conditionsEyesCausative eventChild growthComplete absenceImage featuresGestationTotal spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: Part 2 – spinal cord tumors, dysraphisms, diastematomyelia, and vertebral anomalies
Lee H, Janjua F, Ragab A, Moran J, Haims A, Rubio D, Tuason D, Porrino J. Total spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: Part 2 – spinal cord tumors, dysraphisms, diastematomyelia, and vertebral anomalies. Current Problems In Diagnostic Radiology 2024, 53: 415-421. PMID: 38262798, DOI: 10.1067/j.cpradiol.2024.01.017.Peer-Reviewed Original ResearchTotal spine MRISpinal cord tumorsAdolescent idiopathic scoliosisCord tumorsSpine MRIIdiopathic scoliosisEvaluation of adolescent idiopathic scoliosisVertebral anomaliesNeural axis abnormalitiesArnold-Chiari malformationTime of diagnosisTethered cordAxis abnormalitiesChiari malformationPreoperative evaluationScreening examinationDiastematomyeliaDysraphismTumorScoliosisAbnormalitiesMRIMalformationsSyringomyeliaCordTotal spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: part 1
Lee H, Janjua F, Ragab A, Moran J, Haims A, Rubio D, Tuason D, Porrino J. Total spine MRI for the preoperative evaluation of adolescent idiopathic scoliosis: part 1. Current Problems In Diagnostic Radiology 2024, 53: 405-414. PMID: 38246795, DOI: 10.1067/j.cpradiol.2024.01.016.Peer-Reviewed Original ResearchTotal spine MRIAdolescent idiopathic scoliosisSpine MRIIdiopathic scoliosisEvaluation of adolescent idiopathic scoliosisNeural axis abnormalitiesSpinal cord tumorsTime of diagnosisArnold-Chiari malformationCord tumorsTethered cordAxis abnormalitiesChiari malformationPreoperative evaluationScreening examinationVertebral anomaliesScoliosisAbnormalitiesMRIDiastematomyeliaDysraphismSyringomyeliaMalformationsTumor"In their own words": delineating the contours of dyspnea invisibility in patients with advanced chronic obstructive pulmonary disease from quantitative discourse analysis
Dedonder J, Gelgon C, Guerder A, Nion N, Lavault S, Morélot-Panzini C, Gonzalez-Bermejo J, Benoit L, Similowski T, Serresse L. "In their own words": delineating the contours of dyspnea invisibility in patients with advanced chronic obstructive pulmonary disease from quantitative discourse analysis. Respiratory Research 2024, 25: 21. PMID: 38178139, PMCID: PMC10768212, DOI: 10.1186/s12931-023-02655-4.Peer-Reviewed Original ResearchConceptsChronic obstructive pulmonary diseaseObstructive pulmonary diseasePulmonary diseaseAdvanced chronic obstructive pulmonary diseaseChronic respiratory disease patientsRespiratory disease patientsPersistent dyspneaCOPD patientsDisease patientsMaximal treatmentPatient concernsCausative abnormalityInterpretative phenomenological analysisPatientsDaily limitationsDiseaseBasic activitiesDistressing experiencePatients' discourseNovel informationBackgroundDyspneaDyspneaExacerbationHospitalAbnormalitiesPatterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages
DiAdamo A, Chai H, Chong M, Wang G, Wen J, Jiang Y, Li P. Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages. Global Medical Genetics 2024, 11: 123-131. PMID: 38560483, PMCID: PMC10980555, DOI: 10.1055/s-0044-1785227.Peer-Reviewed Original ResearchRecurrent pregnancy lossProducts of conceptionAbnormal karyotypeConsecutive miscarriagesCase seriesCytogenomic abnormalitiesCA groupCytogenomic findingsRoutine cytogenetic analysisCopy number variantsMonosomy XNormal karyotypeRetrospective studyPregnancy lossCytogenetic analysisPathogenic variantsMiscarriageSA groupAneuploidyKaryotypeLethal variantWomenAbnormalitiesGenome sequenceAbstract Background
2023
Lyme Carditis in the Pediatric Population
Beach C, Vinocur J. Lyme Carditis in the Pediatric Population. 2023, 111-119. DOI: 10.1007/978-3-031-41169-4_11.Peer-Reviewed Original ResearchHigh-grade AV blockTemporary transvenous pacingPediatricPediatric patientsLyme carditisHemodynamic instabilityAntibiotic therapyPediatric populationPR prolongationTransvenous pacingAV blockCommon manifestationConduction abnormalitiesTimely administrationCarditisFull recoveryPatientsDiseaseGreat majorityAccompanying increaseTherapyPacingAbnormalitiesSuspicionAdministrationProlongationSARS-CoV-2 reservoir in post-acute sequelae of COVID-19 (PASC)
Proal A, VanElzakker M, Aleman S, Bach K, Boribong B, Buggert M, Cherry S, Chertow D, Davies H, Dupont C, Deeks S, Eimer W, Ely E, Fasano A, Freire M, Geng L, Griffin D, Henrich T, Iwasaki A, Izquierdo-Garcia D, Locci M, Mehandru S, Painter M, Peluso M, Pretorius E, Price D, Putrino D, Scheuermann R, Tan G, Tanzi R, VanBrocklin H, Yonker L, Wherry E. SARS-CoV-2 reservoir in post-acute sequelae of COVID-19 (PASC). Nature Immunology 2023, 24: 1616-1627. PMID: 37667052, DOI: 10.1038/s41590-023-01601-2.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 reservoirPost-acute sequelaeImmune responseHost immune responseCoronavirus SARS-CoV-2COVID-19SARS-CoV-2Neuroimmune abnormalitiesAcute infectionLong COVIDClinical trialsViral RNAMillions of peopleSequelaeFurther studiesViral proteinsPathologyResearch prioritiesRNA/proteinBiological factorsPASCAntiviralsInfectionAbnormalitiesTrialsTreatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists
Madanat Y, Zeidan A. Treatment Considerations of Myelodysplastic Syndromes/Neoplasms for Pathologists. Clinics In Laboratory Medicine 2023, 43: 685-698. PMID: 37865511, DOI: 10.1016/j.cll.2023.07.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBone marrow biopsy reportsAvailable treatment optionsBest therapeutic approachClinical presentationPathologic findingsRisk stratificationTherapeutic optionsTreatment optionsBiopsy reportsDisease entityTherapeutic approachesTreatment considerationsAccurate diagnosisGenetic abnormalitiesDiagnosisDisease subclassificationPatientsNeoplasmsHematopathologistsOptionsPrognosticationAbnormalitiesCliniciansSubclassificationMicrocephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors
Dell'Amico C, Salavarria M, Takeo Y, Saotome I, Dell'Anno M, Galimberti M, Pellegrino E, Cattaneo E, Louvi A, Onorati M. Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors. ELife 2023, 12: e81716. PMID: 37272619, PMCID: PMC10241521, DOI: 10.7554/elife.81716.Peer-Reviewed Original ResearchConceptsHuman fetal brain tissueStructural brain abnormalitiesC-terminal truncating mutationsFetal brain tissueEtiology of microcephalySevere neurodevelopmental abnormalitiesStem cellsNeuroepithelial stem cellsHuman neural progenitorsHuman brain developmentBrain abnormalitiesCommon causeNeurodevelopmental abnormalitiesAutosomal recessive primary microcephalyBrain tissueBrain developmentCerebral organoidsMicrocephalyUnaffected parentsTruncating mutationsNeural progenitorsHuman neurodevelopmentAbnormalitiesPleiotropic functionsCritical hubThe functional connectome in obsessive-compulsive disorder: resting-state mega-analysis and machine learning classification for the ENIGMA-OCD consortium
Bruin W, Abe Y, Alonso P, Anticevic A, Backhausen L, Balachander S, Bargallo N, Batistuzzo M, Benedetti F, Bertolin Triquell S, Brem S, Calesella F, Couto B, Denys D, Echevarria M, Eng G, Ferreira S, Feusner J, Grazioplene R, Gruner P, Guo J, Hagen K, Hansen B, Hirano Y, Hoexter M, Jahanshad N, Jaspers-Fayer F, Kasprzak S, Kim M, Koch K, Bin Kwak Y, Kwon J, Lazaro L, Li C, Lochner C, Marsh R, Martínez-Zalacaín I, Menchon J, Moreira P, Morgado P, Nakagawa A, Nakao T, Narayanaswamy J, Nurmi E, Zorrilla J, Piacentini J, Picó-Pérez M, Piras F, Piras F, Pittenger C, Reddy J, Rodriguez-Manrique D, Sakai Y, Shimizu E, Shivakumar V, Simpson B, Soriano-Mas C, Sousa N, Spalletta G, Stern E, Evelyn Stewart S, Szeszko P, Tang J, Thomopoulos S, Thorsen A, Yoshida T, Tomiyama H, Vai B, Veer I, Venkatasubramanian G, Vetter N, Vriend C, Walitza S, Waller L, Wang Z, Watanabe A, Wolff N, Yun J, Zhao Q, van Leeuwen W, van Marle H, van de Mortel L, van der Straten A, van der Werf Y, Thompson P, Stein D, van den Heuvel O, van Wingen G. The functional connectome in obsessive-compulsive disorder: resting-state mega-analysis and machine learning classification for the ENIGMA-OCD consortium. Molecular Psychiatry 2023, 28: 4307-4319. PMID: 37131072, PMCID: PMC10827654, DOI: 10.1038/s41380-023-02077-0.Peer-Reviewed Original ResearchObsessive-compulsive disorderHealthy controlsFunctional connectivitySensorimotor networkOCD patientsResting-state functional connectivityWhole-brain functional connectivityResting-state connectivityPathophysiological modelPatient statusAccurate biomarkersWidespread abnormalitiesPatientsMajority of studiesEntire brainGeneralizability of resultsGroup differencesFunctional connectomeAbnormalitiesBiomarkersFunctional networksDisordersCurrent knowledgeIndividual levelIndependent samplesScreening strategies for glucose tolerance abnormalities and diabetes in people with cystic fibrosis
Weiss L, Reix P, Mosnier-Pudar H, Ronsin O, Beltrand J, Reynaud Q, Mely L, Burgel P, Stremler N, Rakotoarisoa L, Galderisi A, Perge K, Bendelac N, Abely M, Kessler L. Screening strategies for glucose tolerance abnormalities and diabetes in people with cystic fibrosis. Diabetes & Metabolism 2023, 49: 101444. PMID: 37030530, DOI: 10.1016/j.diabet.2023.101444.Peer-Reviewed Original ResearchConceptsGlucose tolerance abnormalitiesCystic fibrosis-related diabetesTolerance abnormalitiesCystic fibrosisAnnual oral glucose tolerance testOral glucose tolerance testGlucose tolerance testLong asymptomatic periodStage of diabetesNew comorbiditiesAsymptomatic periodClinical profileTolerance testNew diagnostic toolsPathophysiological knowledgeDiabetesNutritional outcomesPatientsFibrosisAbnormalitiesScreening strategyLife expectancyDiagnostic toolScreening methodComorbiditiesThe Impact of Blast Exposure—With or Without Traumatic Brain Injury—on Metabolic Abnormalities in Post-9/11 Veterans
Lendvai D, Whittemore R, Womack J, Fortier C, Milberg W, Fonda J. The Impact of Blast Exposure—With or Without Traumatic Brain Injury—on Metabolic Abnormalities in Post-9/11 Veterans. Journal Of Head Trauma Rehabilitation 2023, 38: 380-390. PMID: 36951458, PMCID: PMC10514232, DOI: 10.1097/htr.0000000000000874.Peer-Reviewed Original ResearchConceptsBlast-related traumatic brain injuryOverweight/obesityMetabolic abnormalitiesTraumatic brain injuryBlast exposurePost-9/11 veteransBrain injuryRelative riskCross-sectional secondary data analysisTranslational Research CenterSomatic conditionsHealth prevention interventionsCardiometabolic syndromeGlucose dysregulationMean ageWeight managementSecondary data analysisPrevention interventionsMeeting criteriaVeteran cohortPoisson regressionSecondary aimBaseline samplesMajority maleAbnormalitiesAberrant hippocampus and amygdala morphology associated with cognitive deficits in schizophrenia
Peterson B, Kaur T, Sawardekar S, Colibazzi T, Hao X, Wexler B, Bansal R. Aberrant hippocampus and amygdala morphology associated with cognitive deficits in schizophrenia. Frontiers In Cellular Neuroscience 2023, 17: 1126577. PMID: 36909281, PMCID: PMC9996667, DOI: 10.3389/fncel.2023.1126577.Peer-Reviewed Original ResearchClinical symptomsHealthy controlsAnatomical abnormalitiesMemory deficitsPathogenesis of schizophreniaSeverity of symptomsEffects of schizophreniaHippocampal bodyAmygdala morphologyLimbic regionsPatientsHippocampusInward deformationCognitive deficitsBrain structuresHC participantsSchizophreniaAmygdalaSymptomsMemory performanceContinuum of severityAnatomical MRIPrimary disturbanceMemory scoresAbnormalities
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