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parathyroid disorders

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https://www.readbyqxmd.com/read/28199935/surgical-management-of-a-giant-parathyroid-adenoma-through-minimal-invasive-parathyroidectomy-a-case-report
#1
Georgios Sahsamanis, Konstantinos Gkouzis, Stavros Samaras, Dionysios Pinialidis, Georgios Dimitrakopoulos
INTRODUCTION: Primary hyperparathyroidism is a common endocrine disorder mostly associated to parathyroid adenomas. Although those tend to be small in size, rare cases of giant parathyroid adenomas may be present. CASE PRESENTATION: A 42year old female was admitted in our department due to weakness and vague abdominal pain for the past 8 months. Preoperative laboratory exams indicated primary hyperparathyroidism as a cause to her symptomatology, with elevated values of parathormone and normal values of serum calcium...
January 31, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28194447/g%C3%AE-11-mutation-in-mice-causes-hypocalcemia-rectifiable-by-calcilytic-therapy
#2
Caroline M Gorvin, Fadil M Hannan, Sarah A Howles, Valerie N Babinsky, Sian E Piret, Angela Rogers, Andrew J Freidin, Michelle Stewart, Anju Paudyal, Tertius A Hough, M Andrew Nesbit, Sara Wells, Tonia L Vincent, Stephen D M Brown, Roger D Cox, Rajesh V Thakker
Heterozygous germline gain-of-function mutations of G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia with low circulating parathyroid hormone (PTH) concentrations. Effective therapies for ADH2 are currently not available, and a mouse model for ADH2 would help in assessment of potential therapies. We hypothesized that a previously reported dark skin mouse mutant (Dsk7) - which has a germline hypermorphic Gα11 mutation, Ile62Val - may be a model for ADH2 and allow evaluation of calcilytics, which are CaSR negative allosteric modulators, as a targeted therapy for this disorder...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28194446/knockin-mouse-with-mutant-g%C3%AE-11-mimics-human-inherited-hypocalcemia-and-is-rescued-by-pharmacologic-inhibitors
#3
Kelly L Roszko, Ruiye Bi, Caroline M Gorvin, Hans Bräuner-Osborne, Xiao-Feng Xiong, Asuka Inoue, Rajesh V Thakker, Kristian Strømgaard, Thomas Gardella, Michael Mannstadt
Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we identified gain-of-function mutations in Gα11 in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the point mutation GNA11 c...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28186657/association-of-vitamin-d-metabolites-with-parathyroid-hormone-fibroblast-growth-factor-23-calcium-and-phosphorus-in-dogs-with-various-stages-of-chronic-kidney-disease
#4
V J Parker, L M Harjes, K Dembek, G S Young, D J Chew, R E Toribio
BACKGROUND: Hypovitaminosis D is associated with progression of renal disease, development of renal secondary hyperparathyroidism (RHPT), chronic kidney disease-mineral bone disorder (CKD-MBD), and increased mortality in people with CKD. Despite what is known regarding vitamin D dysregulation in humans with CKD, little is known about vitamin D metabolism in dogs with CKD. OBJECTIVES: The purpose of our study was to further elucidate vitamin D status in dogs with different stages of CKD and to relate it to factors that affect the development of CKD-MBD, including parathyroid hormone (PTH), fibroblast growth factor-23 (FGF-23), calcium, and phosphorus concentrations...
February 10, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28152049/differentially-expressed-mir-3680-5p-is-associated-with-parathyroid-hormone-regulation-in-peritoneal-dialysis-patients
#5
Sohyun Jeong, Jung Mi Oh, Kook-Hwan Oh, In-Wha Kim
Mineral and bone disorder (MBD) is observed universally in patients with chronic kidney disease (CKD). Detrimental MBD-related skeletal changes include increased prevalence of fracture, cardiovascular disease, and mortality. MicroRNAs (miRNAs) have been identified as useful biomarkers in various diseases, and the aim of this study was to identify miRNAs associated with parathyroid hormone level in peritoneal dialysis (PD) patients. Fifty-two PD patients were enrolled and grouped by their intact parathyroid hormone (iPTH) level; 11 patients had low iPTH (<150 pg/mL) and 41 patients had high iPTH (≥150 pg/mL)...
2017: PloS One
https://www.readbyqxmd.com/read/28141553/early-predictors-of-post-thyroidectomy-hypoparathyroidism
#6
Karol Sieniawski, Krzysztof Kaczka, Katarzyna Paduszyńska, Wojciech Fendler, Bartłomiej Tomasik, Lech Pomorski
: Thyroid surgery is the most commonly performed procedure in the field of endocrine surgery. Studies are still ongoing on the development of a single algorithm for diagnosis and care of patients at risk of postoperative hypoparathyroidism. The aim of the study was to determine the biochemical marker that would allow the most accurate diagnosis of patient groups at risk of developing hypoparathyroidism and to identify risk factors for this disorder. MATERIAL AND METHODS: The prospective study included 142 consecutive patients undergoing total thyroidectomy for benign goiter from January 1st 2014 to December 31st 2015...
December 1, 2016: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/28139295/hypercalcemia-induces-targeted-autophagic-degradation-of-aquaporin-2-at-the-onset-of-nephrogenic-diabetes-insipidus
#7
Sookkasem Khositseth, Komgrid Charngkaew, Chatikorn Boonkrai, Poorichaya Somparn, Panapat Uawithya, Nusara Chomanee, D Michael Payne, Robert A Fenton, Trairak Pisitkun
Hypercalcemia can cause renal dysfunction such as nephrogenic diabetes insipidus (NDI), but the mechanisms underlying hypercalcemia-induced NDI are not well understood. To elucidate the early molecular changes responsible for this disorder, we employed mass spectrometry-based proteomic analysis of inner medullary collecting ducts (IMCD) isolated from parathyroid hormone-treated rats at onset of hypercalcemia-induced NDI. Forty-one proteins, including the water channel aquaporin-2, exhibited significant changes in abundance, most of which were decreased...
January 27, 2017: Kidney International
https://www.readbyqxmd.com/read/28130717/impact-of-dietary-intake-on-bone-turnover-in-patients-with-phenylalanine-hydroxylase-deficiency
#8
Kathryn E Coakley, Eric I Felner, Vin Tangpricha, Peter W F Wilson, Rani H Singh
: Phenylalanine hydroxylase (PAH) deficiency is a genetic disorder characterized by deficiency of the PAH enzyme. Patients follow a phenylalanine-restricted diet low in intact protein, and must consume synthetic medical food (MF) to supply phenylalanine-free protein. We assessed relationships between dietary intake and nutrient source (food or MF) on bone mineral density (BMD) and bone turnover markers (BTM) in PAH deficiency. Blood from 44 fasted females 11-52 years of age was analyzed for plasma phenylalanine, serum BTM [CTx (resorption), P1NP (formation)], vitamin D, and parathyroid hormone (PTH)...
January 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28125404/bone-mineral-density-and-bone-metabolic-markers-status-in-children-with-neurofibromatosis-type-1
#9
Hatice Gamze Poyrazoğlu, Veysel Nijat Baş, Alev Arslan, Funda Bastug, Mehmet Canpolat, Hüseyin Per, Hakan Gümüs, Sefer Kumandas
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#10
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#11
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Sequeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28091752/management-of-secondary-hyperparathyroidism-practice-patterns-and-outcomes-of-cinacalcet-treatment-with-or-without-active-vitamin%C3%A2-d-in-austria-and-switzerland-the-observational-transit-study
#12
Wolfgang Pronai, Alexander R Rosenkranz, Andreas Bock, Renate Klauser-Braun, Christine Jäger, Gunther Pendl, Margit Hemetsberger, Karl Lhotta
Secondary hyperparathyroidism is a complex disorder requiring an individualized multicomponent treatment approach. This study was conducted to identify treatment combinations used in clinical practice in Austria and Switzerland and the potential to control this disorder. A total of 333 adult hemodialysis and peritoneal dialysis patients were analyzed. All patients received conventional care prior to initiation of a cinacalcet-based regimen. During the study, treatment components, e.g. cinacalcet, active vitamin D analogues and phosphate binders, were adapted to individual patient requirements and treatment dynamics were documented...
January 13, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28081455/correlates-of-vitamin-d-in-psychotic-disorders-a-comprehensive-systematic-review
#13
James Adamson, John Lally, Fiona Gaughran, Amir Krivoy, Lauren Allen, Brendon Stubbs
People with psychosis have high prevalence of low vitamin D levels but the correlates and relevance of this deficiency are unclear. A systematic search of major databases from inception to 03/2016 was undertaken investigating correlates of vitamin D in people with psychosis. Data was summarised with a best evidence synthesis. Across 23 included studies (n=1770 psychosis, n=8171 controls) a mean difference in vitamin D levels between both groups of -11.14ng/ml±0.59 was found. 53 unique correlations between vitamin D and outcomes in people with psychosis were identified...
December 31, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/28070481/lung-adenocarcinoma-and-adrenocortical-carcinoma-in-a-patient-with-multiple-endocrine-neoplasia-type-1
#14
Nobumasa Ohara, Masanori Kaneko, Masahiro Ikeda, Fumio Ishizaki, Kazuya Suzuki, Ryo Maruyama, Takeshi Komeyama, Kazuhiro Sato, Kenichi Togashi, Hiroyuki Usuda, Yuto Yamazaki, Hironobu Sasano, Kenzo Kaneko, Kyuzi Kamoi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors. Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28049234/chronic-kidney-disease-mineral-bone-disorder-in-korean-patients-a-report-from-the-korean-cohort-study-for-outcomes-in-patients-with-chronic-kidney-disease-know-ckd
#15
Chang Seong Kim, Eun Hui Bae, Seong Kwon Ma, Seung Hyeok Han, Kyu Beck Lee, Joongyub Lee, Kook Hwan Oh, Dong Wan Chae, Soo Wan Kim
This study examined the characteristics of biochemical parameters, bone diseases, and vascular calcification in Korean patients with chronic kidney disease (CKD) not yet on dialysis. Serum levels of fibroblast growth factor 23 (FGF23), intact parathyroid hormone (iPTH), 25-hydroxyvitamin D3 (25D), and 1,25-dihydroxyvitamin D3 (1,25D); lumbar spine, total hip, and femur neck bone mineral densities; and brachial-to-ankle pulse wave velocity (baPWV) representing vascular calcification were measured at baseline for 2,238 CKD patients in the KoreaN Cohort Study for Outcomes in Patients With CKD (KNOW-CKD)...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28045985/association-of-ckd-mbd-markers-with-all-cause-mortality-in-prevalent-hemodialysis-patients-a-cohort-study-in-beijing
#16
Duo Li, Ling Zhang, Li Zuo, Cheng Gang Jin, Wen Ge Li, Jin-Bor Chen
The relationships between all-cause mortality and serum intact parathyroid hormone (iPTH), calcium, and phosphate are fairly diverse in patients on maintenance hemodialysis according to prior studies. This study evaluated the association of chronic kidney disease-mineral and bone disorder (CKD-MBD) markers with all-cause mortality in prevalent hemodialysis patients from 2007 to 2012 in Beijing, China. A cohort, involving 8530 prevalent hemodialysis patients who had undergone a 6-70 months follow-up program (with median as 40 months) was formed...
2017: PloS One
https://www.readbyqxmd.com/read/28039046/bone-quality-assessment-as-measured-by-trabecular-bone-score-in-patients-with-end-stage-renal-disease-on-dialysis
#17
Maria P Yavropoulou, Vasilios Vaios, Maria Pikilidou, Ioannis Chryssogonidis, Melina Sachinidou, Symeon Tournis, Konstantinos Makris, Kalliopi Kotsa, Michalis Daniilidis, Afroditi Haritanti, Vassilios Liakopoulos
Patients with end-stage renal disease (ESRD) on maintenance hemodialysis (HD) exhibit osteoporosis and increased fracture risk. Dual-energy X-ray absorptiometry scan measurements and calculation of fracture risk assessment toll score underestimate fracture risk in these patients and do not estimate bone quality. Trabecular bone score (TBS) has been recently proposed as an indirect measure of bone microarchitecture. In this study, we investigated alterations of bone quality in patients with ESRD on HD, using TBS...
December 27, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28003998/association-between-the-achievement-of-target-range-ckd-mbd-markers-and-mortality-in-prevalent-hemodialysis-patients-in-taiwan-by-using-the-kidney-disease-improving-global-outcomes-clinical-guidelines
#18
Ying Liu, Wen-Chin Lee, Ben-Chung Cheng, Lung-Chih Li, Chih-Hsiung Lee, Wen-Xiu Chang, Jin-Bor Chen
Background. This study evaluated the association between achieving target chronic kidney disease-mineral and bone disorder (CKD-MBD) marker levels and mortality in Taiwanese hemodialysis (HD) patients. Target levels were based on the Kidney Disease: Improving Global Outcomes (KDIGO) guidelines. Methods. We performed a retrospective medical record review of 1126 HD patients between 2009 and 2013. A logistic regression model was used to evaluate the relationship between achieving target marker levels and the risk for all-cause and cardiovascular (CV) mortality...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27994294/association-of-beta-2-microglobulin-with-inflammation-and-dislipidemia-in-high-flux-membrane-hemodialysis-patients
#19
Valdete Topçiu-Shufta, Ramë Miftari, Valdete Haxhibeqiri, Shpend Haxhibeqiri
BACKGROUND: Higher than expected cardiovascular mortality in hemodialysis patients, has been attributed to dyslipidemia as well as inflammation. Beta2-Microglobulin (β2M) is an independent predictor of outcome for hemodialysis patients and a representative substance of middle molecules. RESULTS: In 40 patients in high-flux membrane hemodialysis, we found negative correlation of β2M with high density lipoprotein (r=-0.73, p<0.001) and albumin (r= -0.53, p<0...
October 2016: Medical Archives
https://www.readbyqxmd.com/read/27991480/mineral-bone-disorder-and-its-management-among-hemodialysis-patients-in-the-gulf-cooperation-council-initial-findings-from-the-dialysis-outcomes-and-practice-patterns-study-2012-2015
#20
Issa Al Salmi, Mona AlRukhaimi, Ali AlSahow, Faisal A M Shaheen, Saeed M G Al-Ghamdi, Fadwa AlAli, Sumaya AlGhareeb, Yacoub Al Maimani, Mohammed AlGhonaim, Brian Bieber, Francesca Tentori, Ronald L Pisoni
The prospective cohort Dialysis Outcomes and Practice Patterns Study (DOPPS) initiated data collection in national samples of hemodialysis (HD) units (total of 41 study sites) in all six Gulf Cooperation Council (GCC) countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates) in late 2012. Here, we report initial results regarding mineral bone disorders (MBDs) and its management in the GCC countries. Forty-one randomly selected HD facilities, treating >23 HD patients each, were sampled and represent care for >95% of GCC HD patients...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
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