2024
An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk
Salama M, Tebben P, Nofal A. An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk. Journal Of Pediatric Endocrinology And Metabolism 2024, 37: 375-379. PMID: 38414167, DOI: 10.1515/jpem-2023-0494.Peer-Reviewed Original ResearchConceptsParathyroid hormoneCreatinine ratioUrine calcium-to-creatinine ratioHistory of biliary atresiaCalcium to creatinine ratioMonths prior to presentationAlmond milkCow's milk allergyMilk consumptionMonths of ageSevere hypercalcemiaBiliary atresiaAlternative to cow milkCow's milkD levelsLiver transplantationPlant-based milk alternativesCase reportInitial managementIntravenous fluidsMilk allergyHypercalcemiaMineral contentCalcium concentrationHypophosphatemia
2021
Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio
Zavatta G, Tebben P, Clarke B. Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio. Journal Of The Endocrine Society 2021, 5: a255-a256. PMCID: PMC8091468, DOI: 10.1210/jendso/bvab048.519.Peer-Reviewed Original ResearchHead CT scanBasal ganglia calcificationNon-surgical hypoparathyroidismCT scanPrevalence of basal ganglia calcificationsHead CTSerum calciumAssociated with lower serum calciumCalcium x phosphate productRisk factorsAverage serum calciumComplications of hypoparathyroidismDuration of hypoparathyroidismHead CT-Scan imageLow serum calciumPost-surgical hypoparathyroidismCohort of patientsIncreased serum phosphateCardiovascular risk factorsDiagnosis of hypoparathyroidismMedical record reviewCalcium/phosphate ratioSerum phosphateCase seriesCase report
2020
Congenital 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 Original ResearchMeSH 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
2006
Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy
Hodgson S, Clarke B, Tebben P, Mullan B, Cooney W, Shives T. Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy. Endocrine Practice 2006, 12: 35-42. PMID: 16524861, DOI: 10.4158/ep.12.1.35.Peer-Reviewed Original ResearchConceptsTc-99m sestamibi scanM sestamibi scanMesenchymal tumorsTc-99m sestamibi scintigraphyM sestamibi scintigraphyCost-effective initial strategyOncogenic osteomalaciaTherapeutic failureComplete resolutionCase reportD concentrationsNeoplasmsTumorTissue compartmentsOsteomalaciaAlternative localization technique