Search results for "hypercalcemia"

showing 6 items of 6 documents

Metilazione del DNA in artrite reumatoide

2005

Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…

Settore BIO/18 - Geneticainstead chromosomes of controls were almost uniformly decorated by brilliant grains. Studies on methylation of PTHrP gene promoter 2 performed on five CpG island internal sites using the Methylation-Sensitive Restriction Endonuclease Multiplex (MSREM)-PCR showed that one of the sites nearest the trascription starting point is heavy methylated in a significantly high number of RA patients. Thus RA seems to be characterized by genomewide hypomethylation associated with local hypermethylation like the most part of tumors. This result raises the possibility that susceptibility to lymphomas is related to abnormal DNA methylation levels and suggests the opportunity to evaluate the DNA methylation status in RA patientin fact the demethylating therapies together with diet and life style can act towards an increase of tumor risk. Future studies using a larger number of subjects could confirm these findings.Rheumatoid Arthritis (RA) is a chronic multisystem inflammatory disease characterized by high recurrence of lymphomas as well as hypercalcemia due to PTHrP overexpression. Because of DNA methylation plays a critical role in development of neoplasias we determined in RA patients the global DNA methylation status and local methylation pattern of the CpG island of one of the three promoters of PTHrP gene utilizing molecular and cytogenetic techniques. Investigations performed on DNA from peripheral blood of patients and donors amplified by Methylation-Sensitive Arbitrarily Primed (MeS-AP)-PCR indicated that RA is strongly associated with global DNA hypomethylation. Similarly chromosomal DNA methylation pattern analysis by indirect immunofluorescence technique with anti 5-methylcitosine antibody showed all peripheral lymphocyte metaphases from RA patients with chromosomes weakly fluorescent without discrete grain
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Use of Zoledronic Acid in a Neonate with Subcutaneous Fat Necrosis Complicated with Severe, Refractory Hypercalcemia.

2019

Objective Subcutaneous fat necrosis (SCFN) is a rare condition that may occur in the neonatal period. SCFN is an inflammatory disorder of the adipose tissue, usually found in full-term healthy infants who have a history of intrauterine or perinatal distress. It is usually a self-limited condition; however, in some cases, it can get complicated, leading to severe hypercalcemia that may be life-threatening. Study Design We report and describe a classic presentation of SCFN that led to severe hypercalcemia refractory to standard treatment. The diagnosis of SCFN was made based on the finding of subcutaneous nodules and of hypercalcemia. The serum calcium level reached 16.6 mg/dL. Hypercalcemia…

medicine.medical_specialtyNecrosisTerm BirthDrug ResistanceSubcutaneous FatAdipose tissuehypercalcemia; neonate; subcutaneous fat necrosis; zoledronic acid; Bone Density Conservation Agents; Calcium; Drug Resistance; Fat Necrosis; Female; Furosemide; Glucocorticoids; Humans; Hypercalcemia; Infant Newborn; Methylprednisolone; Sodium Potassium Chloride Symporter Inhibitors; Subcutaneous Fat; Term Birth; Zoledronic AcidGastroenterologyMethylprednisoloneZoledronic AcidRefractorySodium Potassium Chloride Symporter InhibitorsFurosemideInternal medicinesubcutaneous fat necrosismedicineHumansFat necrosisFat NecrosisGlucocorticoidsBone Density Conservation Agentsbusiness.industryStandard treatmentInfant NewbornObstetrics and GynecologyFurosemideInfantmedicine.diseaseNewbornZoledronic acidMethylprednisolonePediatrics Perinatology and Child HealthHypercalcemiaCalciumFemalemedicine.symptomneonatebusinessmedicine.drugAmerican journal of perinatology
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Dissimilar PTH, Gastrin, and Calcitonin Responses to Oral Calcium and Peptones in Hypocalciuric Hypercalcemia, Primary Hyperparathyroidism, and Norma…

2005

We analyzed gastrin, PTH, and calcitonin responses to oral calcium and peptones in hypocalciuric hypercalcemia, mild primary hyperparathyroidism, and normal controls. We observed diverse hormonal responses that may help in the differential diagnosis of these conditions. Introduction: Hypocalciuric hypercalcemia (HH) is consequent to calcium-sensing receptor (CaSR) genetic mutations or anti-CaSR antibodies. CaSR is expressed in parathyroid tissue, thyroid C cells, and gastrin-secreting cells, where it has been suggested that on calcium and/or amino acid allosteric activation, promotes gastrin secretion. Materials and Methods: We evaluated gastrin, PTH, and calcitonin responses to oral calciu…

CalcitoninMalemedicine.medical_specialtyPeptide HormonesEndocrinology Diabetes and Metabolismchemistry.chemical_elementParathyroid hormoneCalciumDiagnosis DifferentialInternal medicineGastrinsmedicineHumansOrthopedics and Sports MedicineAgedGastrinHyperparathyroidismHypocalcemiaFamilial hypocalciuric hypercalcemiabusiness.industryHyperparathyroidismMiddle Agedmedicine.diseaseEndocrinologychemistryParathyroid HormoneCalcitoninPeptonesCalciumFemaleCalcium-sensing receptorbusinesshormones hormone substitutes and hormone antagonistsPrimary hyperparathyroidismJournal of Bone and Mineral Research
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Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants

2020

Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…

Malemusculoskeletal diseases0301 basic medicineMAPK/ERK pathwaycongenital hereditary and neonatal diseases and abnormalitiesMAP Kinase Signaling SystemProtein Tyrosine Phosphatase Non-Receptor Type 11030105 genetics & heredityBiologyGene productPhosphatidylinositol 3-Kinases03 medical and health sciencesMetabolic DiseasesGeneticsmedicineHumansMissense mutationskin and connective tissue diseasesProtein kinase BGrowth DisordersGenetics (clinical)GeneticsGenetic heterogeneityNoonan SyndromeGenetic Variationmedicine.diseasePTPN11NephrocalcinosisPhenotype030104 developmental biologySHORT syndromeHypercalcemiaNoonan syndromeFemaleMitogen-Activated Protein KinasesSignal TransductionClinical Genetics
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Case Report: Unmasking Hypercalcemia in Patients With Neuroendocrine Neoplasms. Experience From Six Italian Referral Centers

2021

BackgroundHypercalcemia is a common paraneoplastic syndrome which can occur in up to 10% of patients with advanced neoplasms. Paraneoplastic parathyroid hormone-related protein (PTHrP) represents the most frequent cause of this syndrome. In neuroendocrine neoplasms (NENs) paraneoplastic hypercalcemia is rare.Case SeriesThe present series includes all patients with NENs and paraneoplastic hypercalcemia from four Italian centres: (I) A 40-year-old man was hospitalized for repeated episodes of falls, hyposthenia and drowsiness. Severe hypercalcemia was found. Metastatic pancreatic G2 NEN and PTHrP-related hypercalcemia were diagnosed. The patient started therapy with somatostatin analogs (SSA)…

musculoskeletal diseasesAdultMalemedicine.medical_specialty125-dihydroxyvitamin Dbronchial carcinoidEndocrinology Diabetes and Metabolism1pancreatic NENCase ReportGastroenterologyDiseases of the endocrine glands. Clinical endocrinologyparaneoplastic hypercalcemia; parathyroid hormone-related protein; pancreatic nen; bronchial carcinoid; 125-dihydroxyvitamin dEndocrinologyparaneoplastic hypercalcemiaInternal medicinemedicineHumansVitamin DAgedEverolimusmedicine.diagnostic_testPerformance statusParathyroid hormone-related proteinbusiness.industryparathyroid hormone-related proteinMiddle AgedRC648-665PrognosisPancreatic NeoplasmsNeuroendocrine TumorsSomatostatinDenosumabPositron emission tomographyCalcitoninRadionuclide therapyHypercalcemiaFemalebusiness25-dihydroxyvitamin dhormones hormone substitutes and hormone antagonistsmedicine.drugFrontiers in Endocrinology
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Post-transplantation tertiary hyperparathyroidism.

2012

Tertiary hyperparathyroidism is intended as a state of excessive autonomous excretion of parathyroid hormone after longstanding secondary hyperparathyroidism. It is a condition of a severe hyperparathyroidism that persists in the renal recipient despite a successful transplantation. The high levels of parathyroid hormone lead to a worsening of graft function accompanied by systemic symptoms. This article reviews the main aspects related to tertiary hyperparathyroidism from mechanism of pathogenesis to prevention and treatment, suggesting some indications about the best management of patients on a waiting list for kidney transplant.

ParathyroidectomySettore MED/18 - Chirurgia GeneraleWaiting ListsHyperparathyroidismHypercalcemiaHumansTertiary hyperparathyroidismKidney TransplantationAnnals of transplantation
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