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https://www.readbyqxmd.com/read/29457022/a-case-report-of-compound-heterozygous-cyp24a1-mutations-leading-to-nephrolithiasis-successfully-treated-with-ketoconazole
#1
Emma Davidson Peiris, Raghav Wusirika
CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. We present a case with these lab findings as well as an elevated 25-hydroxyvitamin D/24,25-dihydroxyvitamin D ratio in whom compound heterozygous CYP24A1 mutations were found...
September 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/29442351/milk-alkali-syndrome-mas-as-a-complication-of-the-treatment-of-hypoparathyroidism
#2
Agata Skwarek, Janusz Pachucki, Tomasz Bednarczuk, Zuzanna Żurecka, Michał Popow
Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on the duration of hypoparathyroidism treatment, although it is closely related to the applied therapy, especially the dose of calcium carbonate and active vitamin D preparations. Drugs influencing the glomerular filtration rate (angiotensin receptor blockers, sartans, aldosterone receptor antagonists, thiazide diuretics), lack of adequate routine control, changing the calcium carbonate supplementation, dehydration, a diet rich in pH-basic foods (i...
February 14, 2018: Endokrynologia Polska
https://www.readbyqxmd.com/read/29440923/managing-hyperparathyroidism-in-hemodialysis-role-of-etelcalcetide
#3
REVIEW
Keith E Eidman, James B Wetmore
Secondary hyperparathyroidism (SHPT) is common in patients receiving maintenance hemodialysis and is associated with adverse outcomes. Currently, SHPT is managed by reducing circulating levels of phosphate with oral binders and parathyroid hormone (PTH) with vitamin D analogs and/or the calcimimetic cinacalcet. Etelcalcetide, a novel calcimimetic administered intravenously (IV) at the end of a hemodialysis treatment session, effectively reduces PTH in clinical trials when given thrice weekly. Additional clinical effects include reductions in circulating levels of phosphate and FGF-23 and an improved profile of markers of bone turnover...
2018: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/29407979/design-synthesis-and-biological-evaluation-of-non-secosteriodal-vitamin-d-receptor-ligand-bearing-double-side-chain-for-the-treatment-of-chronic-pancreatitis
#4
Zi-Sheng Kang, Cong Wang, Xiao-Lin Han, Jun-Jie Du, Yan-Yi Li, Can Zhang
Chronic pancreatitis (CP) is a serious disease that characterized by the progressive replacement of functional pancreas tissue by fibrotic tissue. Vitamin D receptor (VDR) plays a critical role in the development of CP, since it inhibits excessive deposition of extracellular matrix (ECM) in activated pancreatic stellate cells (PSCs). Herein, a novel series of non-secosteriodal VDR ligands were designed and synthesized, and their VDR affinity and anti-fibrosis activity were evaluated. The identification of the potent compound 9c was found over structural optimization, which inhibited ECM deposition and fibrotic gene expression in the western blot and qPCR assays, respectively...
January 31, 2018: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29405934/perinatal-and-infantile-hypophosphatasia-clinical-features-and-treatment
#5
G Baujat, C Michot, K H Le Quan Sang, V Cormier-Daire
Hypophosphatasia (HPP) is a rare hereditary disease characterized by defective skeletal mineralization, and with a broad severity spectrum. The perinatal forms, lethal and non-lethal, are associated with severe neonatal respiratory distress, potential seizures, hypotrophy and marked hypotonia. The diagnosis is rapidly suggested by a combination of typical radiological signs, hypercalcemia, hyperphosphatemia and low alkaline phosphatase (ALP) activity. In the infantile form, the clinical signs appear before the age of six months, but the patients usually have no or very mild signs at birth...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29403220/role-of-fine-needle-aspiration-cytology-in-diagnosis-of-brown-tumor-secondary-to-parathyroid-adenoma
#6
Sandeep S Ojha, Jyoti Valecha, Abhishek Sharma, Ramrao Nilkanthe
Brown tumor (BT) is caused by altered metabolism of calcium resulting from hyperparathyroidism (primary or secondary). The most common cause of hyperparathyroidism is isolated parathyroid adenoma (PA), and the most common symptoms are hypercalcemia related. BT is considered as a late manifestation of PA and usually diagnosed after surgical treatment of the bony lesion. Fine-needle aspiration cytology (FNAC) is a cheap, easy, and less traumatic procedure and should be performed in all lesions wherever possible as unnecessary surgeries may be avoided...
January 2018: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/29397346/single-center-experience-in-treating-patients-with-t-4-14-multiple-myeloma-with-and-without-planned-frontline-autologous-stem-cell-transplantation
#7
Henry Chan, Madeline Phillips, Manjula Maganti, Sophia Farooki, Giovanni Piza Rodriguez, Esther Masih-Khan, Christine Chen, Anca Prica, Donna Reece, Rodger Tiedemann, Suzanne Trudel, Vishal Kukreti
BACKGROUND: Translocation t(4;14) has traditionally been classified as a high-risk cytogenetic feature in patients with multiple myeloma with shortened progression-free (PFS) and overall survival (OS) despite initial response to treatment. Recent data have shown an improved long-term survival in these patients treated with novel agents, such as bortezomib. PATIENTS AND METHODS: We conducted a retrospective study on our patients with t(4;14) multiple myeloma treated with bortezomib-based induction between July 1, 2006 and June 30, 2014 to assess the real-world outcomes of these patients in a tertiary center...
January 5, 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29391823/pulse-versus-daily-oral-alfacalcidol-treatment-of-secondary-hyperparathyroidism-in-hemodialysis-patients-a-randomized-controlled-trial
#8
Osama Sawalmeh, Shaheed Moala, Zakaria Hamdan, Huda Masri, Khubaib Ayoub, Emad Khazneh, Mujahed Shraim
Background: Secondary hyperparathyroidism is a common complication of chronic kidney disease and is managed using vitamin D replacement therapy. Very few studies have examined the effectiveness of pulse alfacalcidol therapy in comparison to daily oral alfacalcidol therapy in suppressing serum parathyroid hormone (PTH) levels in hemodialysis patients. The aim of this randomized controlled trial was to replicate the findings of prior studies comparing effectiveness of pulse oral alfacalcidol therapy versus daily oral alfacalcidol therapy in suppressing PTH after 13 weeks of therapy using a Palestinian sample of hemodialysis patients, and to identify demographic and biomedical characteristics of patients that are independently associated with PTH levels...
2018: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/29390544/anesthetic-management-of-primary-hyperparathyroidism-during-pregnancy-a-case-report
#9
Hong Zeng, Zhengqian Li, Xiaoqing Zhang, Ning Wang, Yang Tian, Jun Wang
RATIONALE: Primary hyperparathyroidism (PHPT) during pregnancy is rare. Nevertheless, hypercalcemia secondary to gestational PHPT may be masked by physiological changes in calcium homeostasis during pregnancy. Gestational PHPT constitutes a serious danger to mother and fetus. Surgery is the only curative treatment when conservative treatment could not control the condition. Due to the lack of guidelines concerning PHPT during pregnancy, the optimal anesthetic management of PHPT during pregnancy needs to be individualized...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29384906/a-rare-case-report-of-multiple-myeloma-presenting-with-paralytic-ileus-and-type-ii-respiratory-failure-due-to-hypercalcemic-crisis
#10
Yuchen Guo, Liang He, Yiming Liu, Xueyuan Cao
RATIONALE: Paralytic ileus is characterized by the signs and symptoms of intestinal obstruction but without any mechanical lesions in the intestinal lumen. Several medical and surgical conditions can lead to this ailment, such as electrolyte disturbances that impair intestinal motility. However, hypercalcemia secondary to multiple myeloma as a major cause of paralytic ileus has rarely been reported. PATIENT CONCERNS: The patient got severe constipation with difficulty in the passage of both gas and feces for 7 days...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29360160/trends-in-multiple-myeloma-presentation-management-cost-of-care-and-outcomes-in-the-medicare-population-a-comprehensive-look-at-racial-disparities
#11
Sikander Ailawadhi, Ryan D Frank, Mayank Sharma, Richa Menghani, M'hamed Temkit, Shumail Paulus, Nandita Khera, Shahrukh Hashmi, Pooja Advani, Abhisek Swaika, Aneel Paulus, Nabeel Aslam, Taimur Sher, Vivek Roy, Gerardo Colon-Otero, Asher Chanan-Khan
BACKGROUND: Outcomes have improved significantly in multiple myeloma (MM), but racial disparities in health care access and survival exist. A comprehensive analysis exploring MM care and racial disparities is warranted. METHODS: Patients with MM from 1991 to 2010 in the Surveillance, Epidemiology, and End Results-Medicare database were evaluated for racial trends in clinical myeloma-defining events (MDEs), the receipt of treatment (drugs and stem cell transplantation; [SCT]), the cost of care, and overall survival (OS)...
January 23, 2018: Cancer
https://www.readbyqxmd.com/read/29354167/neonatal-severe-hyperparathyroidism-secondary-to-a-novel-homozygous-casr-gene-mutation
#12
Noman Ahmad, Mona Bahasan, Balgees Abdulhadi Abdullah Al-Ghamdi, Halah Faleh Al-Enizi, Ali Saeed Al-Zahrani
Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29319442/clinical-signs-treatment-and-prognostic-factors-for-dogs-with-histoplasmosis
#13
Allison G Wilson, Kate S KuKanich, Andrew S Hanzlicek, Mark E Payton
OBJECTIVE To determine the clinical manifestations of histoplasmosis in a large sample of dogs, compare outcomes achieved with fluconazole versus itraconazole, and identify variables available at the time of diagnosis with prognostic value. DESIGN Retrospective case series with nested cohort study. ANIMALS 79 dogs with confirmed histoplasmosis evaluated at 2 veterinary teaching hospitals from 1999 through 2015. PROCEDURES Medical records were reviewed and data extracted regarding clinical signs at evaluation, physical examination findings, clinical laboratory values, other diagnostic test results, treatments, and outcomes...
January 15, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29303141/synchronous-parathyroid-adenoma-and-papillary-thyroid-carcinoma-99mtc-mibi-scan-findings
#14
O Kandemir, P Atmaca Kelkit, K Karakuş
Simultaneous existence of parathyroid adenoma and thyroid nonmedullary carcinoma is rarely observed. A 52-year-old female was diagnosed approximately 4 years ago with primary hyperparathyroidism (PHPT) on the basis of hypercalcemia and elevated serum parathyroid hormone (PTH) level. Clinically, PHPT diagnosed patient was examined with Tc-99m MIBI scintigraphy to investigate parathyroid adenoma. Early Tc-99m MIBI images showed focal focused enhanced activity retention on both thyroid left lobe upper pole and thyroid lower pole inferior neighborhood...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29301445/gallstones-were-associated-with-the-gastrointestinal-adverse-events-of-cinacalcet-in-hemodialysis-patients-with-secondary-hyperparathyroidism
#15
Keiichi Otsuka, Yoichi Ohno, Joji Oshima
This study aimed to investigate the association of gastrointestinal (GI) adverse events of cinacalcet with gallstones in the hemodialysis (HD) patients with secondary hyperparathyroidism (SHPT). A total of 23 HD patients under the treatment with cinacalcet and 101 control patients were enrolled in this cross-sectional study. We investigated the prevalence of gallstones and the association of GI adverse events of cinacalcet with gallstones. The prevalence of gallstones was significantly higher in the HD patients with cinacalcet compared with the controls (47...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29290677/clinical-relevance-and-cost-savings-of-levocarnitine-versus-ammonul-in-the-management-of-hyperammonemia-in-a-cancer-patient-the-impact-of-a-clinical-pharmacist
#16
Chukwuma Anyanwu, Chinonso Ezeudu, Hoa Le, Oliver Egwim
Background: Hyperammonemia, a relatively uncommon condition characterized by elevated ammonia levels in the blood, presents with varied physiological etiologies that may send patients to the intensive care unit (ICU) with encephalopathy. An immediate decrease in ammonia levels is necessary to avert neurological damage. However, due to the multifaceted nature of hyperammonemia, a definite determination of etiology is not always possible. Objective: This case report examines the clinical and economic impact of a pharmacist in managing acute hyperammonemia of unknown etiology in a 62-year-old Hispanic man who had recently been diagnosed with metastatic medullary thyroid cancer and associated hypercalcemia...
January 2018: P & T: a Peer-reviewed Journal for Formulary Management
https://www.readbyqxmd.com/read/29286564/denosumab-treatment-in-aneurysmal-bone-cyst-evaluation-of-nine-cases
#17
Nilgun Kurucu, Canan Akyuz, Fatma Bilge Ergen, Bilgehan Yalcin, Kemal Kosemehmetoglu, Mehmet Ayvaz, Ali Varan, Burca Aydin, Tezer Kutluk
BACKGROUND: Aneurysmal bone cyst (ABC) is a benign bone tumor. Curettage and bone grafting is the common treatment. Here, we retrospectively evaluate nine patients treated with denosumab. PROCEDURE: Nine patients with ABC, mostly pelvic and vertebral, treated with denosumab were analyzed retrospectively. A 70 mg/m2 denosumab dose was used weekly in the first month, and then monthly. Clinical and radiological responses to treatment were evaluated. RESULTS: In all patients, clinical symptoms including pain and limping regressed completely within 3 months...
December 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29285174/kasabach-merritt-syndrome-combined-with-hypercalcemia-a-case-report
#18
Runying Zou, Fang Peng, Tian Yu, Saizhen Zeng, Yalan You, Keke Chen, Hui Zou, Xin Tian, Chengguang Zhu, Xiangling He
The present case report presented the diagnosis and treatment course of an infant diagnosed with Kasabach-Merritt syndrome (KMS) combined with hypercalcemia (HC). A 35-day-old infant with swelling on the upper right arm for >1 month and thrombocytopenia for 1 day was admitted to Hunan Provincial People's Hospital (Changsha, China) and a series of treatments, including γ-globulin impact, heparin anticoagulation, platelet transfusion, supplement of cryoprecipitate and fibrinogen following heparinization and inhabitation of vascular endothelial cell proliferation by propranolol, were performed...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29281760/long-term-complications-in-patients-with-hypoparathyroidism-evaluated-by-biochemical-findings-a-case-control-study
#19
Line Underbjerg, Tanja Sikjaer, Lars Rejnmark
Hypoparathyroidism is associated with an increased risk of various complications, but only few data are available on risk factors. Using a case-control design, we assessed associations between biochemical findings and risk of different complications within a subpopulation of our previously identified Danish patients. We retrieved all biochemical data available on 431 (81% women) patients from the Central Region of Denmark, covering approximately 20% of the Danish population. Average age of patients was 41 years at time of diagnosis...
December 27, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29260296/lithium-associated-hypercalcemia-pathophysiology-prevalence-management
#20
Adrian D Meehan, Ruzan Udumyan, Mathias Kardell, Mikael Landén, Johannes Järhult, Göran Wallin
BACKGROUND: Lithium-associated hypercalcemia (LAH) is an ill-defined endocrinopathy. The aim of the present study was to determine the prevalence of hypercalcemia in a cohort of bipolar patients (BP) with and without concomitant lithium treatment and to study surgical outcomes for lithium-associated hyperparathyroidism. METHODS: Retrospective data, including laboratory results, surgical outcomes and medications, were collected from 313 BP treated with lithium from two psychiatric outpatient units in central Sweden...
December 19, 2017: World Journal of Surgery
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