2021
Skimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome
Dahl A, Armellino A, Tran C, Tebben P. Skimmed breast milk for treatment of hypertriglyceridemia in an infant with congenital nephrotic syndrome. Nutrition In Clinical Practice 2021, 37: 383-387. PMID: 34486165, DOI: 10.1002/ncp.10759.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsChildFemaleHumansHyperlipidemiasHypertriglyceridemiaInfantInfant, NewbornMaleMilk, HumanNephrotic SyndromeTriglyceridesConceptsCongenital nephrotic syndromeSkimmed breast milkMaternal breast milkBreast milkTriglyceride concentrationsSevere hypertriglyceridemiaNephrotic syndromeTreatment of severe hypertriglyceridemiaLower extremity edemaNephrotic-range proteinuriaLow-fat formulaDeep venous thrombosisTreatment of hypertriglyceridemiaTreatment of dyslipidemiaBreast milk supplyElevation of serum cholesterolExtremity edemaNeonatal periodMedium-chain triglyceride oilNPHS1 geneTherapeutic optionsVenous thrombosisPathogenic variantsWeeks of ageLaboratory evaluation
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-upCongenital 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
2013
Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota
Thacher T, Fischer P, Tebben P, Singh R, S. S, Maxson J, Yawn B. Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota. Mayo Clinic Proceedings 2013, 88: 176-183. PMID: 23374621, PMCID: PMC3612965, DOI: 10.1016/j.mayocp.2012.10.018.Peer-Reviewed Original ResearchConceptsDiagnostic codesRadiographic evidence of ricketsOlmsted County, MinnesotaRochester Epidemiology Project dataAssociated with black raceCommunity-based populationRisk factorsVitamin D deficiencyPopulation-based studyNutritional ricketsEvidence of ricketsIncidence of nutritional ricketsRecord abstractionEvaluation of risk factorsNonwhite race/ethnicityLeg painD deficiencyOlmsted CountyOutcome measuresIncidence rateRadiographic evidenceLow birth weightAge- and sex-matched controlsGenu varumBlack race
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