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https://www.readbyqxmd.com/read/29145251/renal-osteodystrophy-presenting-as-a-metabolic-superscan-on-f-18-fdg-pet-ct-a-case-report
#1
Ismaheel Lawal, Alfred Ankrah, Kehinde Ololade, Moshe Modiselle, Mike Sathekge
RATIONALE: F-18 Fluoro Deoxyglucose positron emission tomography and computed tomography (F-18 FDG PET/CT) is a useful modality in the evaluation of patients with malignancies. Increased incidence of lympho-proliferative disorders has been reported in individuals with long-standing end-stage renal disorders treated with renal replacement therapy. PATIENT CONCERNS: A 30-year-old male on peritoneal dialysis on account of end-stage renal disease. He had acute rejection of an earlier transplanted renal allograft...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29145203/evaluation-of-mental-disorders-using-proton-magnetic-resonance-spectroscopy-in-dialysis-and-predialysis-patients
#2
Chun-Yun Zhang, Ying Chen, Shan Chen, Xiang-Chuang Kong, Yuan Liu, Chao-Qun You, Cheng Wan, Philip A Bondzie, Hua Su, Chun Zhang, Fang-Fang He
BACKGROUND/AIMS: Psychological complications are prevalent in patients with chronic kidney disease (CKD). This study aimed to investigate mental disorders in stage 4-5 CKD patients, to detect metabolite concentrations in the brain by proton magnetic resonance spectroscopy (1H-MRS) and to compare the effects of different dialysis therapies on mental disorders in end-stage renal disease (ESRD). METHODS: The sample population was made up of predialysis (13), hemodialysis (HD) (13), and peritoneal dialysis (PD) patients (12)...
November 21, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29144803/endocrine-manifestations-of-primary-hyperoxaluria
#3
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/29136674/familial-hyperparathyroidism-disorders-of-growth-and-secretion-in-hormone-secretory-tissue
#4
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/29127708/calcimimetic-and-calcilytic-therapies-for-inherited-disorders-of-the-calcium-sensing-receptor-signalling-pathway
#5
REVIEW
Fadil M Hannan, Mie K Olesen, Rajesh V Thakker
THE CALCIUM-SENSING RECEPTOR (CAS RECEPTOR) PLAYS A PIVOTAL ROLE IN EXTRACELLULAR CALCIUM HOMEOSTASIS AND GERMLINE LOSS- AND GAIN-OF-FUNCTION MUTATIONS CAUSE FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA (FHH) AND AUTOSOMAL DOMINANT HYPOCALCAEMIA (ADH), RESPECTIVELY. CAS RECEPTOR SIGNAL TRANSDUCTION IN THE PARATHYROID GLANDS IS LIKELY REGULATED BY G-PROTEIN SUBUNIT Α11 (GΑ11) AND ADAPTOR-RELATED PROTEIN COMPLEX-2 SIGMA SUBUNIT (AP2Σ), AND RECENT STUDIES HAVE IDENTIFIED GERMLINE MUTATIONS OF THESE PROTEINS AS A CAUSE OF FHH AND/OR ADH...
November 11, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29124877/sporadic-primary-hyperparathyroidism-and-stone-disease-a-comprehensive-metabolic-evaluation-before-and-after-parathyroidectomy
#6
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/29118767/long-term-progression-of-coronary-artery-calcification-is-independent-of-classical-risk-factors-c-reactive-protein-and-parathyroid-hormone-in-renal-transplant-patients
#7
Sibel Gulcicek, Carmine Zoccali, Deniz Çebi Olgun, Giovanni Tripepi, Selma Alagoz, Serkan Feyyaz Yalın, Sinan Trabulus, Mehmet R Altiparmak, Nurhan Seyahi
Aims: Compared to the general population, mortality is significantly increased in renal transplant recipients. In the general population, coronary artery calcification (CAC) and its evolution over time are associated with cardiovascular and all-cause mortality, and the study of this biomarker could provide useful information for describing the long-term progression of coronary heart disease in renal transplant recipients. Methods: We followed up a cohort of 113 renal transplant patients by performing three multi-detector computed tomography studies over 83...
October 2017: Cardiorenal Medicine
https://www.readbyqxmd.com/read/29083339/reoperation-for-persistent-or-recurrent-secondary-hyperparathyroidism
#8
Alida Abruzzo, Maria Concetta Gioviale, Giuseppe Damiano, Vincenzo Davide Palumbo, Salvatore Buscemi, Giulia Lo Monte, Leonardo Gulotta, Giuseppe Buscemi, Attilio Ignazio Lo Monte
BACKGROUND: Secondary hyperparathyroidism is a common acquired disorder seen in chronic renal failure. Its pathophysiology is mainly due to hyperphosphatemia and vitamin D deficiency and resistance. When medical treatment fails, subtotal and total parathyroidectomy with autotransplantation are the standard procedures, although both are associated with high recurrence rates. METHODS AND RESULTS: 4 patients experienced persistence and 9 relapse. The first 4 were subjected to reoperation after 6 months for the persistence of symptoms due to the finding of a supernumerary adenomatous gland while the remaining patients at the reoperation showed in 5 cases 2 more glands in over thymic position, and 4 an hyperplasia of the residual glandular tissue...
October 23, 2017: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/29080701/g-protein-coupled-receptors-as-anabolic-drug-targets-in-osteoporosis
#9
REVIEW
Natalie Diepenhorst, Patricia Rueda, Anna E Cook, Philippe Pastoureau, Massimo Sabatini, Christopher J Langmead
Osteoporosis is a progressive bone disorder characterised by imbalance between bone building (anabolism) and resorption (catabolism). Most therapeutics target inhibition of osteoclast-mediated bone resorption, but more recent attention in early drug discovery has focussed on anabolic targets in osteoblasts or their precursors. Two marketed agents that display anabolic properties, strontium ranelate and teriparatide, mediate their actions via the G protein-coupled calcium-sensing and parathyroid hormone-1 receptors, respectively...
October 25, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29078380/large-g-protein-%C3%AE-subunit-xl%C3%AE-s-limits-clathrin-mediated-endocytosis-and-regulates-tissue-iron-levels-in-vivo
#10
Qing He, Richard Bouley, Zun Liu, Marc N Wein, Yan Zhu, Jordan M Spatz, Chia-Yu Wang, Paola Divieti Pajevic, Antonius Plagge, Jodie L Babitt, Murat Bastepe
Alterations in the activity/levels of the extralarge G protein α-subunit (XLαs) are implicated in various human disorders, such as perinatal growth retardation. Encoded by GNAS, XLαs is partly identical to the α-subunit of the stimulatory G protein (Gsα), but the cellular actions of XLαs remain poorly defined. Following an initial proteomic screen, we identified sorting nexin-9 (SNX9) and dynamins, key components of clathrin-mediated endocytosis, as binding partners of XLαs. Overexpression of XLαs in HEK293 cells inhibited internalization of transferrin, a process that depends on clathrin-mediated endocytosis, while its ablation by CRISPR/Cas9 in an osteocyte-like cell line (Ocy454) enhanced it...
October 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29072386/-genetic-disorders-of-renal-phosphate-handling
#11
REVIEW
Daniella Magen
Hereditary disorders of renal phosphate handling comprise a diverse group of genetic diseases, usually characterized by excessive urinary phosphate wasting and a negative phosphate balance. In the minority of cases, perturbations of renal phosphate handling are associated with excessive urinary phosphate reabsorption, leading to pathological hyperphosphatemia. Inorganic phosphate is an essential mineral in the human body, playing a crucial role in cellular metabolism and skeletal mineralization. Whole body phosphate balance is maintained by a highly controlled equilibrium between intestinal uptake, skeletal deposition and renal excretion...
October 2017: Harefuah
https://www.readbyqxmd.com/read/29067991/does-combination-of-paricalcitol-with-cinacalcet-in-secondary-hyperparathyroidism-in-hemodialysis-treatment-make-sense
#12
Jacek Zawierucha, Jolanta Małyszko, Jacek Małyszko, Tomasz Prystacki, Wojciech Marcinkowski, Teresa Dryl-Rydzyńska
INTRODUCTION    Secondary hyperparathyroidism (SHPT) is a common hormonal disorder associated with  chronic kidney disease (CKD). SHPT treatment should lead to reduction of parathormon concentration by calcimimetics or active vitamin D administration and calcium-phosphate metabolism stabilization. In the event of failure of conservative treatment complete or partial parathyroid resection should be considered.  OBJECTIVES    The aim of the study was assessement of beneficial effects of treatment with paricalcitol and cinacalcet simultaneously versus paricalcitol alone...
October 25, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29066504/patient-quality-of-life-and-prognosis-in-men2
#13
Joanna Grey, Kym Winter
Multiple endocrine neoplasia type 2 (MEN2) refers to the autosomal dominant neuroendocrine tumour syndromes, MEN type 2A (MEN2A) and MEN type 2B (MEN2B). They are typified by the development of medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid hyperplasia in MEN2A, and MTC, phaeochromocytomas, ganglioneuromatosis and skeletal abnormalities in MEN2B. The aggressiveness of MTC is variable according to genotype, and although it is still the major cause of mortality in both conditions, prognosis has improved dramatically in those diagnosed and treated at a young age thanks to predictive genetic testing...
October 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29063504/abnormal-interaction-between-cognitive-control-network-and-affective-network-in-patients-with-end-stage-renal-disease
#14
Junya Mu, Tao Chen, Qianqian Liu, Dun Ding, Xueying Ma, Peng Li, Anmao Li, Mingxia Huang, Zengjun Zhang, Jixin Liu, Ming Zhang
End-stage renal disease (ESRD) is a common complicated disorder that is generally associated with an altered central nervous system and cognitive impairment. Neuroimaging studies have recorded aberrant brain circuits in patients with ESRD that were closely associated with abnormal clinical manifestations. However, whether the altered interaction was within and/or between these circuits is largely unclear. We investigated brain topological organization and/or module interaction by employing resting-state functional magnetic resonance imaging (rs-fMRI) and modularity network analysis in 24 patients with ESRD and 20 age- and gender-matched healthy control (HC) subjects...
October 23, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29062340/biochemical-markers-of-mineral-bone-disorder-in-south-african-patients-on-maintenance-haemodialysis
#15
Bala Waziri, Raquel Duarte, Saraladevi Naicker
BACKGROUND AND OBJECTIVE: Despite the high mortality and morbidity associated with abnormalities in mineral and bone metabolism in haemodialysis patients, there is limited data on the pattern of mineral bone disorder in African CKD population. Therefore, the purpose of this study was to describe the pattern of mineral bone disease by evaluating biochemical parameters in patients on maintenance haemodialysis (MHD). METHODS: We evaluated the serum/plasma intact parathyroid hormone (iPTH), corrected calcium, phosphate, total alkaline phosphatase (TALP) and 25 -OH vitamin D levels of two hundred and seven patients undergoing MHD at two dialysis centers in Johannesburg...
June 2017: African Health Sciences
https://www.readbyqxmd.com/read/29056164/adam17-a-new-player-in-the-pathogenesis-of-chronic-kidney-disease-mineral-and-bone-disorder
#16
Alessandra F Perna, Alessandra Pizza, Annarita Di Nunzio, Rocco Bellantone, Marco Raffaelli, Tommaso Cicchella, Giovanni Conzo, Luigi Santini, Miriam Zacchia, Francesco Trepiccione, Diego Ingrosso
The triad composed by α-Klotho, fibroblast growth factor-23, and its receptor are involved in the pathogenesis of chronic kidney disease-mineral and bone disorder. A disintegrin and metalloproteinase 17 (ADAM17) is a metalloproteinase causing the proteolytic shedding of α-Klotho from the cell membrane, and its role in chronic kidney disease-mineral and bone disorder is not yet known. We studied the circulating levels of the above-mentioned mediators in patients with secondary hyperparathyroidism due to uremia, compared to control subjects, as well as in patients with primary hyperparathyroidism...
November 2017: Journal of Renal Nutrition
https://www.readbyqxmd.com/read/29053801/parathyroid-hormone-related-protein-induced-hypercalcemia-of-pregnancy-successfully-reversed-by-a-dopamine-agonist
#17
Elizabeth M Winter, Natasha M Appelman-Dijkstra
Context: Parathyroid hormone related protein (PTH-rP) induced hypercalcemia or pseudophyperparathyroidism during pregnancy is a condition that can result in serious foetal and maternal complications. Among others, breast tissue might be the cause of this PTH-rP production, in which case medical treatment is possible, as we describe in this case. Setting: A 32-year old woman presented in the15th week of pregnancy with massive enlargement of breasts and abdominal pain due to severe hypercalcemia, hypercalciuria and suppressed PTH...
October 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29050900/bone-and-mineral-disorders-in-chronic-kidney-disease-implications-for-cardiovascular-health-and-ageing-in-the-general-population
#18
REVIEW
Adrian Covic, Marc Vervloet, Ziad A Massy, Pablo Ureña Torres, David Goldsmith, Vincent Brandenburg, Sandro Mazzaferro, Pieter Evenepoel, Jordi Bover, Mugurel Apetrii, Mario Cozzolino
The patient with chronic kidney disease (CKD) represents an extreme model for arteriosclerosis, vascular calcification, and bone disorders, all of which are also associated with ageing in the general population. These pathological features are also relevant to other common chronic health disorders such as diabetes, and chronic inflammatory and cardiovascular diseases. Although management and interventions for these major risk factors are now incorporated into most public health guidelines (eg, smoking cessation and control of bodyweight and blood pressure, as well as glucose and cholesterol concentrations), some residual cardiovascular risk is not reduced by implementation of these interventions...
October 16, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29040582/cdc73-related-disorders-clinical-manifestations-and-case-detection-in-primary-hyperparathyroidism
#19
Karin van der Tuin, Carli M J Tops, Muriel A Adank, Jan-Maarten Cobben, Neveen A T Hamdy, Marjolijn C Jongmans, Fred H Menko, Bernadette P M van Nesselrooij, Romana T Netea-Maier, Jan C Oosterwijk, Gerlof D Valk, Bruce H R Wolffenbuttel, Frederik J Hes, Hans Morreau
Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT), and less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case series. Objective: To assess the clinical manifestations and penetrance in CDC73-related disorders and to improve case detection in pHPT. Design: Nationwide retrospective Dutch cohort study...
October 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29039523/analysis-of-men1-c-482g-a-p-gly161asp-mutation-in-a-pedigree-with-familial-multiple-endocrine-neoplasia-type-1
#20
Yuanyuan Luo, Yongxiang Sun, Xiaofan Zhu, Xialian Li
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, which in turn are caused by mutations in the MEN1 gene. In the present study, a case of a 46‑year‑old woman who was clinically diagnosed with MEN1 based on the presence of prolactinoma and bilateral parathyroid adenoma was reported. The patient's serum prolactin (PRL) levels were successfully controlled via bromocriptine therapy, and the serum levels of calcium and intact parathyroid hormone (PTH) reduced one day following parathyroidectomy...
December 2017: Molecular Medicine Reports
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