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https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#1
Shatha Murad, Yuval Eisenberg
OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder of oxalate overproduction. It is associated with urolithiasis and nephrocalcinosis which progress to ESRD and systemic oxalosis. As oxalate deposits in tissues, non-parathyroid hormone (nonPTH) mediated hypercalcemia, oxalate osteopathy, primary hypothyroidism and primary hypogonadism develop. In this review, we will present a case of PH1 and provide an overview of this clinical entity and its endocrine manifestations...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29142355/severe-hypercalcemia-related-to-silicone-granulomas-as-discovered-by-fdg-pet
#2
Dana E Amiraian, Joseph M Accurso, Manoj K Jain
Silicone injected for cosmetic purposes can provoke an inflammatory granulomatous response. In turn, silicone granulomas can lead to hypercalcemia, which is a rare, though potentially life-threatening condition. Hypercalcemia is a nonspecific laboratory finding with many potential etiologies. It may be difficult for clinicians to diagnose silicone-induced hypercalcemia, since the history of cosmetic silicone injections may not be elicited from the patient. Positron emission tomography using F-18-fluorodeoxyglucose (FDG-PET) can be used to evaluate patients with unexplained hypercalcemia as a means of searching for an occult malignancy or granulomatous process...
October 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#3
Stephen J Marx, Delmar Muniz Lourenco
Six syndromes of familial hyperparathyroidism are compared: 1) Familial hypocalciuric hypercalcemia (FHH) expresses primary hyperparathyroidism (PHPT) beginning at birth with lifelong hypercalcemia. There is nonsuppressed PTH secretion from outwardly normal parathyroid glands. It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes. It requires urgent total parathyroidectomy in infancy. It usually reflects biallelic inactivation of the CASR...
November 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29134314/surgery-for-primary-hyperparathyroidism-with-normal-non-suppressed-parathyroid-hormone-can-be-both-challenging-and-successful
#4
Lauren E Orr, Travis J McKenzie, Geoffrey B Thompson, David R Farley, Robert A Wermers, Melanie L Lyden
BACKGROUND: Criteria for diagnosing primary hyperparathyroidism (PHPT) include hypercalcemia in the presence of parathyroid hormone (PTH) levels that are either elevated (classic PHPT) or normal but non-suppressed. However, there is no standard definition of what constitutes normal non-suppressed levels, and data are lacking regarding the potential for surgical cure in these patients. METHODS: A retrospective review of patients undergoing parathyroidectomy for sporadic PHPT between 2012 and 2014 was performed...
November 13, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29124877/sporadic-primary-hyperparathyroidism-and-stone-disease-a-comprehensive-metabolic-evaluation-before-and-after-parathyroidectomy
#5
Giovanni S Marchini, Kauy V M Faria, Fábio C M Torricelli, Manoj Monga, Miguel Srougi, William C Nahas, Eduardo Mazzucchi
OBJECTIVES: to characterize the stone risk and the impact of parathyroidectomy on the metabolic profile of patients with primary hyperparathyroidism (PHPT) and urolithiasis. SUBJECTS AND METHODS: We analyzed the prospectively collected charts of patients treated at our stone clinic from Jan/2001-Jan/2016 searching for patients with PHPT and urolithiasis. Imaging evaluation of the kidneys, bones and parathyroid glands were assessed. We analyzed the demographic data, serum and urinary parameters before and after parathyroidectomy...
November 10, 2017: BJU International
https://www.readbyqxmd.com/read/29120658/-primary-hyperparathyroidism%C3%A2-new-clinical-forms-of-the-disease
#6
Kateřina Zajíčková
Primary hyperparathyroidism (PHPT) has been increasingly diagnosed incidentally in its asymptomatic form owing to calcium screening tests. This form of PHPT represents 80% in developed countries. Although PHPT patients are asym-ptomatic, target organ (bone and kidney) involvement is frequently observed. Mild PHPT is associated with a reduction of bone mineral densityand, moreover, with increased risk of vertebral fractures. The extent of a patient evaluation and indications for parathyroidectomy are based on expert guidelines from 2014...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29118988/atypical-manifestation-of-parathyroid-carcinoma-with-late-onset-distant-metastases
#7
Marina Tsoli, Anna Angelousi, Dimitra Rontogianni, Constantine Stratakis, Gregory Kaltsas
Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29115694/familial-hypocalciuric-hypercalcemia-as-an-atypical-form-of-primary-hyperparathyroidism
#8
Stephen J Marx
Introduction Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia with features that overlap with typical primary hyperparathyroidism (PHPT). The incompleteness of this overlap has led to divergent nomenclatures for FHH. I compare two nomenclatures. One sets FHH as an entity distinct from PHPT. The other groups FHH with PHPT but conditions FHH as atypical PHPT. Methods I analyzed selected articles about calcium-sensing receptors, FHH, PHPT, CASR, GNA11, and AP2S1. Results FHH usually results from a heterozygous germline inactivating mutation of the CASR, and less frequently from mutation of GNA11 or AP2S1...
November 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29110129/real-life-management-and-outcome-of-thyroid-carcinoma-related-bone-metastases-results-from-a-nationwide-multicenter-experience
#9
G Mazziotti, A M Formenti, M B Panarotto, E Arvat, A Chiti, A Cuocolo, M E Dottorini, C Durante, L Agate, S Filetti, F Felicetti, A Filice, L Pace, T Pellegrino, M Rodari, M Salvatori, C Tranfaglia, A Versari, D Viola, S Frara, A Berruti, A Giustina, R Giubbini
PURPOSE AND PATIENTS: The M.O.S.CA.TI. (Metastases of the Skeleton from CArcinoma of the ThyroId) is a multicenter, retrospective study investigating the real-life outcome and management of bone metastases (BM) in 143 patients (63 M, 80 F; median age 64 years, range 11-87) with differentiated thyroid carcinoma (DTC). RESULTS: Radio-active iodine (RAI) treatment was performed in 131 patients (91.6%), surgical approach and/or external radiotherapy in 68 patients (47...
November 6, 2017: Endocrine
https://www.readbyqxmd.com/read/29108699/skeletal-effects-of-failed-parathyroidectomy
#10
Feibi Zheng, Hui Zhou, Ning Li, Philip I Haigh, Annette L Adams, Michael W Yeh
BACKGROUND: Parathyroidectomy improves bone mineral density and decreases risk for fracture in patients with primary hyperparathyroidism. The aim of this study was to determine skeletal consequences of failed parathyroidectomy. METHODS: A retrospective, cohort study of patients with biochemically confirmed primary hyperparathyroidism within a vertically integrated health system was performed (1995-2014). Failed parathyroidectomy was defined by hypercalcemia within 6 months of initial parathyroidectomy...
November 3, 2017: Surgery
https://www.readbyqxmd.com/read/29108515/long-term-use-of-cinacalcet-in-kidney-transplant-recipients-with-hypercalcemic-secondary-hyperparathyroidism-a-single-center-prospective-study
#11
Vasileios Zavvos, Lamprini Fyssa, Marios Papasotiriou, Evangelos Papachristou, Theodoros Ntrinias, Eirini Savvidaki, Dimitrios S Goumenos
OBJECTIVES: Persistent secondary hyperparathyroidism is common after successful kidney transplant, with concomitant hypercalcemia and hypophosphatemia potentially leading to reduced graft survival and increased cardiovascular risk. Cinacalcet, a calcimimetic agent that activates the calcium-sensing receptors in parathyroid glands, is a therapeutic option. In this study, we assessed the long-term treatment effects of cinacalcet for a period of up to 5 years in a cohort of kidney transplant recipients...
October 31, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29108501/occult-massive-visceral-fat-necrosis-following-therapeutic-hypothermia-for-neonatal-encephalopathy
#12
Salwa Khedr, Anna Piskorski, Adrienne R Bingham, Justin Goldstein, Abbot R Laptook, Monique E De Paepe
Therapeutic hypothermia (head or whole-body cooling) improves survival and neurodevelopmental outcome in term newborns with moderate-to-severe encephalopathy. Hypothermia treatment is well tolerated; the most common side effect is thrombocytopenia. In about 1% of infants, focal subcutaneous fat necrosis has been reported. We describe a case of clinically unsuspected massive visceral fat necrosis in a term infant with Apgar score 0 at 1 min ("resuscitated apparently stillborn" infant) who was treated with therapeutic hypothermia for 72 h and expired on the 25th day of life following a neonatal course complicated by severe encephalopathy, pulmonary artery hypertension, persistent thrombocytopenia, hypoglycemia, and severe basal ganglia-thalamic abnormalities on magnetic resonance imaging...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29106818/hypercalcemia-and-erythematous-indurated-patches-in-a-newborn
#13
E Bowden, L Hamilton, D Wilson
No abstract text is available yet for this article.
November 6, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29102624/antitumoral-effects-of-the-alkynylphosphonate-analogue-of-calcitriol-em1-on-glioblastoma-multiforme-cells
#14
María Julia Ferronato, Eliana Noelia Alonso, Débora Gisele Salomón, María Eugenia Fermento, Norberto Ariel Gandini, Mario Alfredo Quevedo, Evangelina Mascaró, Cristian Vitale, Yagamare Fall, María Marta Facchinetti, Alejandro Carlos Curino
Glioblastoma multiforme (GBM) is the worst and most common brain tumor, characterized by high proliferation and invasion rates. The current standard treatment is mainly based on chemoradiotherapy and this approach has slightly improved patient survival. Thus, novel strategies aimed at prolonging the survival and ensuring a better quality of life are necessary. In the present work, we investigated the antitumoral effect of the novel analogue of calcitriol EM1 on GBM cells employing in vitro, in silico, and in vivo assays...
November 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29100167/early-identification-and-intervention-matters-a-comprehensive-review-of-current-evidence-and-recommendations-for-the-monitoring-of-bone-health-in-patients-with-cancer
#15
REVIEW
Thomas Brodowicz, Peyman Hadji, Daniela Niepel, Ingo Diel
Bone metastases are common in patients with advanced solid tumors, and many individuals experience debilitating skeletal-related events (SREs; e.g. pathologic fracture, hypercalcemia, radiotherapy or surgery to bone, and spinal cord compression). These events substantially affect disease outcomes, including survival and quality of life, and healthcare systems. Plain radiography is the most widely used imaging modality for the detection of bone metastases; skeletal scintigraphy, computed tomography, positron emission tomography and magnetic resonance imaging offer greater sensitivity but their use in routine practice is restricted by high costs and limited availability...
October 18, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29098319/-multiple-myeloma-what-has-been-confirmed-in-therapy
#16
REVIEW
M-A Baertsch, H Goldschmidt
Multiple myeloma (MM) is a malignancy of terminally differentiated B cells/plasma cells and is primarily located in the bone marrow. Symptomatic multiple myeloma typically presents with osteolyses, anemia, reduced renal function, and/or hypercalcemia. In the case of such MM-related end organ damage, urgent systemic treatment is indicated. In order to prevent end organ damage, current guidelines now recommend treatment initiation already when certain biomarkers are met. Current first-line treatment is based on proteasome inhibition and immunomodulation...
November 2, 2017: Der Internist
https://www.readbyqxmd.com/read/29095277/acute-pancreatitis-as-an-initial-manifestation-of-parathyroid-carcinoma-a-case-report-and-literature-review
#17
REVIEW
Yuan Gao, Cheng Yu, Feixiang Xiang, Mingxing Xie, Lingyun Fang
RATIONALE: Parathyroid carcinoma is a rare endocrine malignancy. Acute pancreatitis as an initial manifestation of parathyroid carcinoma has been rarely reported. PATIENT CONCERNS: A 22-year-old woman was admitted to emergency room with a sudden attack of severe epigastric pain. DIAGNOSES: Acute pancreatitis was diagnosed as elevated levels of serum amylase. During the work-up for acute pancreatitis, patient's abnormally increased serum calcium and bones destruction revealed by abdominal computed tomography (CT) scan raised the suspicion of hyperparathyroidism or malignancy...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29080636/genetic-diseases-of-vitamin-d-metabolizing-enzymes
#18
REVIEW
Glenville Jones, Marie Laure Kottler, Karl Peter Schlingmann
Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1α-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D3 to the hormonal form, 1,25-(OH)2D3, and the inactivation of 1,25-(OH)2D3 to biliary excretory products. Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)2D3 synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)2D3 and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis...
December 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/29078931/oncologic-metabolic-emergencies
#19
REVIEW
Jonathan Wagner, Sanjay Arora
Cancer and its therapies may lead to several metabolic emergencies that emergency providers (EPs) should be well-versed in identifying and managing. With prompt recognition and treatment initiation in the emergency department, lives can be saved and quality of life maintained. Most oncologic metabolic emergencies occur in advanced cancer states, but some follow initiation of treatment or may be the presenting syndrome that leads to the cancer diagnosis. This article reviews the 2 most emergent oncologic metabolic diagnoses: tumor lysis syndrome and hypercalcemia of malignancy...
December 2017: Hematology/oncology Clinics of North America
https://www.readbyqxmd.com/read/29076678/vitamin-d-toxicity-and-other-non-malignant-causes-of-hypercalcemia-a-retrospective-study-at-a-tertiary-care-hospital-in-pakistan
#20
Muhammad Naeem Khan, Muhammad Qamar Masood, Mohammad Arsalan Siddiqui, Sabahat Naz, Najmul Islam
BACKGROUND: Hypercalcemia is a common clinical problem; primary hyperparathyroidism and malignancy is commonest causes of hypercalcemia. Aetiology of hypercalcemia are changing, causes that were diseases of the past like Vitamin-D toxicity and milk alkali syndrome are observed more often. Vitamin-D deficiency is an important problem and overzealous replacement of Vitamin-D has been observed, suspected to cause toxicity. METHODS: This was a retrospective review of patients admitted at the Aga Khan University Hospital from January 2008 to December 2013 with hypercalcemia...
July 2017: Journal of Ayub Medical College, Abbottabad: JAMC
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