2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disordersAn update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.Peer-Reviewed Original ResearchResponse to therapyHereditary hypophosphatemic ricketsPathogenic variantsBone phenotypeSerum phosphateHypophosphatemic ricketsHeterozygous carriersPartial response to therapyPredicting response to therapyRare group of disordersIntact parathyroid hormoneUrine calcium excretionCorrection of hypophosphatemiaSolute carrier familyDecreased serum phosphateBaseline disease severityVariants in vitroOral phosphate supplementationNormalize serum phosphateStandard of careGroup of disordersMutant allelesCarrier familyBiochemical phenotypeKidney phenotype
2023
Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit
Chandran M, Alves I, Carpenter T, Davis M, Hsiao E, Petryk A, Semler J, Sleiman M. Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit. Osteoporosis International 2023, 34: 1301-1310. PMID: 37294334, PMCID: PMC10382343, DOI: 10.1007/s00198-023-06791-x.Peer-Reviewed Original ResearchConceptsCare pathwaysRare bone diseasesImprove care pathwaysImprove patient outcomesObstacles to diagnosisCare providersHealthcare professionalsExpert carePatient communityUnmet needsImprove awarenessPatient outcomesDiagnostic delayAction planCareBone diseaseCommunication gapHeterogeneous group of disordersVirtual meetingsGroup of disordersOutcomesPeopleHealthcareInformation exchangeSpecial treatmentWhat We Lost in the Fire: Endemic Tropical Heart Diseases in the Time of COVID-19.
Chang A, Zühlke L, Ribeiro A, Barry M, Okello E, Longenecker C. What We Lost in the Fire: Endemic Tropical Heart Diseases in the Time of COVID-19. American Journal Of Tropical Medicine And Hygiene 2023, 108: 462-464. PMID: 36746666, PMCID: PMC9978545, DOI: 10.4269/ajtmh.22-0514.Peer-Reviewed Original ResearchConceptsHeart diseaseMiddle-income countriesGlobal health equityCOVID-19 pandemicHealth equityHealth disparitiesHealthcare providersCare systemMalaria control initiativesRheumatic heart diseaseGroup of disordersControl statusCOVID-19Time of COVID-19Control initiativesFunding increasesEndomyocardial fibrosisSubstantial mortalityDiseaseEndemic illnessOutcomesChagas diseasePeopleCareHealthcare
2021
Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies
McIntosh C, Li D, Wilton S, Aung-Htut M. Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies. Biomedicines 2021, 9: 1499. PMID: 34829728, PMCID: PMC8615177, DOI: 10.3390/biomedicines9111499.Peer-Reviewed Original ResearchPolyQ spinocerebellar ataxiasAntisense therapyImpaired proteasome functionCAG trinucleotide repeatSpinocerebellar ataxiaHeterogeneous group of neurological disordersGroup of disordersSpinocerebellar ataxia type 1Antisense oligonucleotide therapeuticsPolyQ ataxiasGroup of neurological disordersTrinucleotide repeatsCoding regionClinical presentationProteasome functionPolyglutamine disordersTherapeutic optionsCausative genesClinical trialsDisease progressionHuntington's diseaseProgressive ataxiaTherapeutic approvalsMitochondrial dysfunctionType 1
2019
What are the most promising new agents in myelodysplastic syndromes?
Chandhok NS, Boddu PC, Gore SD, Prebet T. What are the most promising new agents in myelodysplastic syndromes? Current Opinion In Hematology 2019, 26: 77-87. PMID: 30632987, DOI: 10.1097/moh.0000000000000483.BooksConceptsMyelodysplastic syndromePromising new agentNew agentsAllogeneic hematopoietic stem cell transplantationManagement of MDSHigh-risk myelodysplastic syndromeHematopoietic stem cell transplantationRisk myelodysplastic syndromesLong-term remissionStem cell transplantationHigh-risk groupLow-risk groupGoal of therapyAcute myeloid leukemiaProgression of diseaseBone marrow failure syndromesGroup of disordersQuality of lifeMarrow failure syndromesTransfusion dependenceTherapeutic optionsTreatment optionsBcl-2 inhibitorsDisease prognosticationMyeloid leukemia
2018
Anxiety Disorders
van Schalkwyk G, Silverman W. Anxiety Disorders. 2018, 298-308. DOI: 10.1093/oxfordhb/9780190634841.013.20.Peer-Reviewed Original ResearchAnxiety disordersAbstract Anxiety disordersAssociated with significant impairmentCognitive behavioral therapyEvidence-based treatmentsBehavioral therapyModification trainingSignificant impairmentAssessment measuresDisordersEvidence baseAccurate differential diagnosisAnxietyGroup of disordersAdolescentsImpairmentTreatmentChildrenParentsInterventionDifferential diagnosis
2016
Cranial nerve involvement in Charcot–Marie–Tooth Disease
Das N, Kandalaft S, Wu X, Malhotra A. Cranial nerve involvement in Charcot–Marie–Tooth Disease. Journal Of Clinical Neuroscience 2016, 37: 59-62. PMID: 27884603, DOI: 10.1016/j.jocn.2016.10.049.Peer-Reviewed Original ResearchConceptsCranial nerve involvementNerve involvementTooth diseaseCharcot-MarieFacial muscle weaknessSpinal nerve rootsSkull base foraminaGroup of disordersForms of HMSNNerve findingsRight medianClinical featuresClinical presentationCauda equineDisease involvementMuscle weaknessNerve rootsSymmetric enlargementTrigeminal neuralgiaTrigeminal nerveFacial nervePes cavusEmergency roomAbsent responseRare disorderUsefulness of Cyclophosphamide Pulse Therapy in Interstitial Lung Diseases
Schupp J, Köhler T, Müller-Quernheim J. Usefulness of Cyclophosphamide Pulse Therapy in Interstitial Lung Diseases. Respiration 2016, 91: 296-301. PMID: 27082957, DOI: 10.1159/000445031.Peer-Reviewed Original ResearchConceptsNon-specific interstitial pneumoniaInterstitial lung diseaseLymphocytic interstitial pneumoniaCyclophosphamide pulse therapyLung functionPulse therapyInterstitial pneumoniaLung diseaseRheumatoid arthritis-associated interstitial lung diseaseIdiopathic non-specific interstitial pneumoniaFibrotic interstitial lung diseaseProgressive lung function declineBetter survival outcomesLung function declineIdiopathic pulmonary fibrosisBronchoalveolar lavage cytologyGroup of disordersILD patientsMost patientsSystemic sclerosisTotal cohortFunction declineLavage cytologyPulmonary fibrosisCyclophosphamide treatment
2015
Diagnosis and management of rare congenital nonimmune hemolytic disease.
Gallagher PG. Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology 2015, 2015: 392-9. PMID: 26637748, DOI: 10.1182/asheducation-2015.1.392.Peer-Reviewed Original ResearchConceptsErythrocyte hydrationHemolytic diseaseErythrocyte metabolismGroup of disordersEpisodic hemolysisLaboratory manifestationsPathophysiologic mechanismsClinical findingsHemolytic anemiaChronic hemolysisHemolytic disordersImportant causeDiseaseHeterogeneous groupDisordersAnemiaErythrocyte structureAbnormalitiesHemoglobin stabilityPathway leadUnstable hemoglobinopathiesMetabolismManagement considerationsUnstable hemoglobinHemolysis
2014
Chapter 6 Pathophysiology of Cardiomyopathies
Saini H, Tabtabai S, Stone J, Ellinor P. Chapter 6 Pathophysiology of Cardiomyopathies. 2014, 101-119. DOI: 10.1016/b978-0-12-405206-2.00006-5.Peer-Reviewed Original ResearchHeterogeneous group of disordersMolecular pathwaysCongestive heart failureLife-threatening arrhythmiasGroup of disordersIschemic heart diseaseMyocardial dysfunctionHeart failureTherapeutic modalitiesClinical symptomsCardiomyopathyMolecular basisGenetic mutationsSudden deathExtrinsic insultsHeart diseaseHeterogeneous groupCardiovascular conditionsDisease mechanismsFamily studiesDisease
2012
Autism and the pervasive developmental disorders
Volkmar F, Klin A. Autism and the pervasive developmental disorders. 2012, 1634-1643. DOI: 10.1093/med/9780199696758.003.0214.Peer-Reviewed Original Research
2010
Functional imaging of schizophrenia
Pearlson G. Functional imaging of schizophrenia. 2010, 30-47. DOI: 10.1017/cbo9780511782091.003.Peer-Reviewed Original ResearchMolecular imaging of substance abuse
Schweinsburg B, Schweinsburg A, Mason G. Molecular imaging of substance abuse. 2010, 446-462. DOI: 10.1017/cbo9780511782091.032.Chapters
2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdolescentAdultAmino Acid SequenceAudiometryBlotting, NorthernBrainChildChild, PreschoolChromosomes, Human, Pair 7Contig MappingDNA, ComplementaryExonsFemaleGene DeletionGenes, RecessiveGenetic LinkageGenetic MarkersHearingHomozygoteHumansKidneyKidney CortexMaleMicroscopy, FluorescenceMitochondrial Proton-Translocating ATPasesModels, GeneticMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalPregnancy ProteinsProtein BiosynthesisProtein IsoformsProton PumpsProton-Translocating ATPasesRecombination, GeneticRNA SplicingSequence Homology, Amino AcidSuppressor Factors, ImmunologicTissue DistributionVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosesDistal nephronDistal renal tubular acidosisRecessive distal renal tubular acidosisRenal tubular acidosisGroup of disordersHuman kidney cortexRenal tubular acidosesNormal audiometryMetabolic acidosisTubular acidosisDifferent homozygous mutationsKidney-specific isoformKidney cortexPotassium balanceApical surfaceBone physiologyHomozygous mutationImmunofluorescence studiesMain organsProton-secreting cellsATPase pumpNorthern blot analysisAcidosisCalcium solubility
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