2020
Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study
Hawkes C, Roy S, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine M. Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study. The Journal Of Clinical Endocrinology & Metabolism 2020, 106: e485-e495. PMID: 33124662, PMCID: PMC7823241, DOI: 10.1210/clinem/dgaa759.Peer-Reviewed Original ResearchConceptsAcute hypercalcemiaKetogenic dietLevels of 1,25-dihydroxyvitamin DLow levels of parathyroid hormoneLevels of parathyroid hormoneLow alkaline phosphatase levelMulticenter case seriesImpaired renal functionCohort of patientsResolution of hypercalcemiaReduced osteoblast activityResponse to treatmentAlkaline phosphatase levelsImpaired bone formationRenal impairmentClinical presentationRenal functionParathyroid hormoneCase seriesMulticenter studyClinical characteristicsBone healthHypercalcemiaSkeletal demineralizationFollow-upSafety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study
Qureshi M, Patterson M, Clark V, Johnson J, Moutvic M, Driscoll S, Kemppainen J, Huston J, Anderson J, Badley A, Tebben P, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette J, Gavrilova R. Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study. Journal Of Inherited Metabolic Disease 2020, 44: 502-514. PMID: 32677106, DOI: 10.1002/jimd.12285.Peer-Reviewed Original ResearchConceptsCardiac magnetic resonance imagingMagnetic resonance imagingOpen-labelCardiac endpointsLeft ventricular (LV) structureFriedreich Ataxia Rating ScaleImprovement of cardiac functionLV mass indexSingle-center trialFriedreich's ataxiaCompared to baselineAtaxia Rating ScaleNonstatistically significant improvementPhase IIFA diagnosisStatistically significant improvementNeurological outcomeSignificant improvementPediatric subjectsAdverse eventsProspective studyCardiac functionHeart failureCardiac structureEvaluate safetyCongenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Muthusamy K, Macke E, Klee E, Tebben P, Hand J, Hasadsri L, Marcou C, Schimmenti L. Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal Of Medical Genetics Part A 2020, 182: 2442-2449. PMID: 32815268, DOI: 10.1002/ajmg.a.61792.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdolescentAdultAngelman SyndromeChildChild, PreschoolChromosomes, Human, Pair 15Congenital AbnormalitiesFemaleGenes, RecessiveGenomic ImprintingHumansIchthyosisIn Situ Hybridization, FluorescenceInfantInfant, NewbornMaternal InheritancePrader-Willi SyndromeSphingosine N-AcyltransferaseUniparental DisomyYoung AdultConceptsPrader-Willi syndromeAutosomal recessive congenital ichthyosisAutosomal recessive conditionPrader-Willi syndrome/Angelman syndromeCeramide synthase 3Congenital ichthyosisUniparental disomyPathogenic variantsPaternal 15q11-q13 deletionComplex chromosomal rearrangementsCase of autosomal recessive congenital ichthyosisNovel pathogenic variantsDiagnosis of Prader-Willi syndromeRecessive conditionRecessive inherited diseaseAutosomal recessive inherited diseaseChromosomal rearrangementsGenetic mechanismsImprinting defectsMaternal UPD15Prader-WilliClinical courseUPD15Case reportClinical phenotype
2019
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
Wadams H, Gupta N, Novotny P, Tebben P. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. Journal Of Pediatric Endocrinology And Metabolism 2019, 33: 139-145. PMID: 31811804, DOI: 10.1515/jpem-2019-0269.Peer-Reviewed Original ResearchConceptsOptic nerve hypoplasiaPituitary hormone deficiencyThyroid-stimulating hormoneMagnetic resonance imagingMidline abnormalitiesAdrenocorticotropic hormoneHormone deficiencyAntidiuretic hormoneDiagnosis of optic nerve hypoplasiaPresence of optic nerve hypoplasiaRetrospective chart review of patientsThyroid-stimulating hormone deficiencyGrowth hormoneChart review of patientsDiagnosis of GHPituitary hormone functionReview of patientsRetrospective chart reviewYears of ageAge 3 yearsMonths of ageNeonatal periodMedian ageFollow-upMayo Clinic
2018
Improved utilization of waist‐to‐height ratio in cardiometabolic risk counselling in children: Application of DMAIC strategy
Gupta N, Lteif A, Creo A, Iqbal A, Pittock S, Tebben P, Hansen J, Heyrman M, Spee R, Scanlan‐Hanson L, Kumar S. Improved utilization of waist‐to‐height ratio in cardiometabolic risk counselling in children: Application of DMAIC strategy. Journal Of Evaluation In Clinical Practice 2018, 25: 300-305. PMID: 30378218, DOI: 10.1111/jep.13055.Peer-Reviewed Original ResearchConceptsWaist-to-height ratioMeasurement of WCWaist circumferenceCentral obesityRisk counselingSurrogate markers of central obesityMarker of central obesityQuality improvement projectCardiometabolic risk reductionAmbulatory clinical practiceOutpatient clinic settingIncreased cardiometabolic riskBody mass indexElevated WHtRMulti-disciplinary teamWC measurementsAssessment of childrenCardiometabolic riskImprovement projectWHtRDefine-measure-analyse-improve-controlOutcome measuresPaediatric clinicsMass indexProspective cohortMild subclinical hypothyroidism is associated with paediatric dyslipidaemia
Dahl A, Iqbal A, Lteif A, Pittock S, Tebben P, Kumar S. Mild subclinical hypothyroidism is associated with paediatric dyslipidaemia. Clinical Endocrinology 2018, 89: 330-335. PMID: 29846957, DOI: 10.1111/cen.13752.Peer-Reviewed Original ResearchConceptsMild subclinical hypothyroidismElevated non-HDL cholesterolSubclinical hypothyroidismEuthyroid childrenElevated total cholesterolAssociated with higher ratesNon-HDL cholesterolTotal cholesterolLipid profilePresence of thyroid autoimmunityRandomized placebo-controlled studyNon-HDL cholesterol levelsAssociated with total cholesterolPlacebo-controlled studyMeasurement of TSHCompare lipid profilesTSH levelsThyroid autoimmunityHigher ratesFree thyroxineCardiometabolic consequencesOdds ratioControlled studiesCholesterol levelsHypothyroidism
2017
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sakka S, Gafni R, Davies J, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W. Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 4163-4172. PMID: 28938420, PMCID: PMC5673271, DOI: 10.1210/jc.2017-01102.Peer-Reviewed Original ResearchConceptsHajdu-Cheney syndromeIncreased bone resorptionBP therapyNOTCH2 mutationsLumbar spine bone mineral densityBone resorptionIncreased heterogeneity of mineralizationResponse to bisphosphonate treatmentLumbar spine bone densitySpine bone mineral densityDual-energy X-ray absorptiometryTransiliac bone biopsy specimensQuantitative computed tomography resultsBone histomorphometric characteristicsSpine bone densityPeripheral quantitative computed tomography resultsCortical thicknessResponse to bisphosphonatesX-ray absorptiometryBone mineral densityPeripheral quantitative computed tomographyBone biopsy specimensResponse to BPComputed tomography resultsQuantitative computed tomography
2013
Pediatric Endocrine Surgery: A 20-Year Experience at the Mayo Clinic
Kundel A, Thompson G, Richards M, Qiu L, Cai Y, Schwenk F, Lteif A, Pittock S, Kumar S, Tebben P, Hay I, Grant C. Pediatric Endocrine Surgery: A 20-Year Experience at the Mayo Clinic. The Journal Of Clinical Endocrinology & Metabolism 2013, 99: 399-406. PMID: 24423286, DOI: 10.1210/jc.2013-2617.Peer-Reviewed Original ResearchConceptsNeck dissectionAdrenocortical carcinomaMayo ClinicCases of permanent hypoparathyroidismHigh-volume endocrine surgeonsSuccinate dehydrogenase subunit B mutationLateral neck dissectionCongenital adrenal hyperplasiaAge of patientsHigh-volume surgeonsSix-month follow-upMultiglandular diseaseRecurrent hyperparathyroidismAdrenal hyperplasiaPermanent hypoparathyroidismUnilateral adrenalectomyEndocrine proceduresPrimary hyperparathyroidismCushing's syndromeThyroid proceduresDistal pancreatectomyPancreatic proceduresParaganglioma patientsTertiary hyperparathyroidismComplication rate
2010
Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Kirmani S, Tebben P, Lteif A, Gordon D, Clarke B, Hefferan T, Yaszemski M, McGrann P, Lindor N, Ellison J. Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome. American Journal Of Medical Genetics Part A 2010, 152A: 1016-1019. PMID: 20358619, DOI: 10.1002/ajmg.a.33356.Peer-Reviewed Case Reports and Technical NotesConceptsLow bone mineral densityBone mineral densityMarfan syndromeSkeletal fragilitySurgical repairMineral densityTalipes equinovarusEhlers-Danlos syndrome type IVFamilial aortic aneurysmsAortic root dilatationSubmucous cleft palateLoeys-Dietz syndromeRoot dilatationCleft palateFragility fracturesSignificant skeletal deformityHeterozygous mutationsReceptor mutationsPectus excavatumVascular fragilityEDS-IVInguinal herniaAortic aneurysmAscending aortaVascular complications