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parathyroid disorders

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https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#1
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Seqeira, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27989606/improving-diagnostic-recognition-of-primary-hyperparathyroidism-with-machine-learning
#11
Yash R Somnay, Mark Craven, Kelly L McCoy, Sally E Carty, Tracy S Wang, Caprice C Greenberg, David F Schneider
BACKGROUND: Parathyroidectomy offers the only cure for primary hyperparathyroidism, but today only 50% of primary hyperparathyroidism patients are referred for operation, in large part, because the condition is widely under-recognized. The diagnosis of primary hyperparathyroidism can be especially challenging with mild biochemical indices. Machine learning is a collection of methods in which computers build predictive algorithms based on labeled examples. With the aim of facilitating diagnosis, we tested the ability of machine learning to distinguish primary hyperparathyroidism from normal physiology using clinical and laboratory data...
December 15, 2016: Surgery
https://www.readbyqxmd.com/read/27957632/epileptic-seizure-as-the-first-symptom-of-hypoparathyroidism-in-children-does-not-require-antiepileptic-drugs
#12
Meng-Jia Liu, Jiu-Wei Li, Xiu-Yu Shi, Lin-Yan Hu, Li-Ping Zou
OBJECTIVE: Patients with hypoparathyroidism exhibit metabolic disorders (hypocalcemia) and brain structural abnormalities (brain calcifications). Currently, studies have determined whether antiepileptic drug (AED) treatment is required for epileptic seizures in children with hypoparathyroidism. METHOD: This study aims to evaluate the data of two medical centers in Beijing based on the diagnosis of epileptic seizures as the first symptom of hypoparathyroidism in children...
December 12, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27934558/fibroblast-growth-factor-23-in-postrenal-transplant-an-often-forgotten-hormone
#13
Fateme Shamekhi Amiri, Mohammad Reza Khatami
Fibroblast growth factor 23 is likely to be the most important regulator of phosphate homeostasis, which mediates its functions through fibroblast growth factor receptors and the coreceptor Klotho. In addition to reducing expression of the sodium-phosphate cotransporters NPT2a and NPT2c in the proximal tubules, fibroblast growth factor 23 inhibits renal 1α-hydroxylase and stimulates 24-hydroxylase and appears to reduce parathyroid hormone secretion in short-term studies. Fibroblast growth factor 23 synthesis and secretion by osteocytes and osteoblasts are upregulated through 1,25-dihydroxyvitamin D3 and through an increased dietary phosphate intake...
December 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27928436/parathyroidectomy-is-vitamin-d-a-player-for-a-good-outcome
#14
REVIEW
Carsote M, Paduraru Dn, Nica Ae, Valea A
Background: The field of parathyroidectomy (PTx) is complex and brings together many specialists. Even if the surgical approaches changed from classical to minimally invasive PTx, a good outcome is correlated with an adequate localization before and during PTx, while blood assays, such as parathormone (PTH) or 25-hydroxyvitamin D, become useful additional markers. Aim. Specific aspects related to parathyroidectomy and vitamins D (VD) were introduced. Material and Method. The article represents a PubMed-based narrative review...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27922495/toxic-and-endocrine-myopathies
#15
Hans D Katzberg, Charles D Kassardjian
PURPOSE OF REVIEW: This article discusses the clinical features, pathophysiology, and management of toxic and endocrine myopathies. RECENT FINDINGS: Early detection and expeditious correction of metabolic disturbances in endocrinopathies such as Cushing syndrome, thyroid and parathyroid diseases, and acromegaly can minimize and prevent neurologic complications including myopathy. Recently proposed mechanisms of injury in patients with critical illness myopathy include inhibition of protein synthesis, mitochondrial dysfunction, disruption of the ubiquitin-proteasome system, oxidative stress, and disruption of intramuscular calcium homeostasis, which can cause a myosin-loss myopathy...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27909107/parathyroid-disorders
#16
Morri E Markowitz, Lisa Underland, Robert Gensure
No abstract text is available yet for this article.
December 2016: Pediatrics in Review
https://www.readbyqxmd.com/read/27905644/requests-of-laboratory-tests-for-the-diagnosis-and-management-of-calcium-phosphate-disorders-in-spain
#17
María Salinas, Maite López-Garrigós, Emilio Flores, Joaquín Uris, Carlos Leiva-Salinas
BACKGROUND: Knowledge about the variability in the request of calcium-phosphate metabolism laboratory tests in primary care is important to design strategies to improve health system efficiency. AIM: To compare the inter-practice variability in calcium-phosphate metabolism laboratory tests requested by general practitioners from diverse regions across Spain. MATERIAL AND METHODS: One hundred and forty one clinical laboratories were invited to participate in an observational cross-sectional study...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27902586/neurological-psychological-and-cognitive-disorders-in-patients-with-chronic-kidney-disease-on-conservative-and-replacement-therapy
#18
Silvia Lai, Oriano Mecarelli, Patrizia Pulitano, Roberto Romanello, Leonardo Davi, Alessia Zarabla, Amalia Mariotti, Maria Carta, Giorgia Tasso, Luca Poli, Anna Paola Mitterhofer, Massimo Testorio, Nicla Frassetti, Paola Aceto, Alessandro Galani, Carlo Lai
Chronic kidney disease (CKD) is a highly prevalent condition in the world. Neurological, psychological, and cognitive disorders, related to CKD, could contribute to the morbidity, mortality, and poor quality of life of these patients. The aim of this study was to assess the neurological, psychological, and cognitive imbalance in patients with CKD on conservative and replacement therapy.Seventy-four clinically stable patients affected by CKD on conservative therapy, replacement therapy (hemodialysis (HD), peritoneal dialysis (PD)), or with kidney transplantation (KT) and 25 healthy controls (HC), matched for age and sex were enrolled...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27900734/lithium-side-effects-and-toxicity-prevalence-and-management-strategies
#19
REVIEW
Michael Gitlin
Despite its virtually universal acceptance as the gold standard in treating bipolar disorder, prescription rates for lithium have been decreasing recently. Although this observation is multifactorial, one obvious potential contributor is the side effect and toxicity burden associated with lithium. Additionally, side effect concerns assuredly play some role in lithium nonadherence. This paper summarizes the knowledge base on side effects and toxicity and suggests optimal management of these problems. Thirst and excessive urination, nausea and diarrhea and tremor are rather common side effects that are typically no more than annoying even though they are rather prevalent...
December 2016: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/27900568/control-of-phosphate-balance-by-the-kidney-and-intestine
#20
REVIEW
Ichiro Kaneko, Sawako Tatsumi, Hiroko Segawa, Ken-Ichi Miyamoto
The prevention and correction of hyperphosphatemia are major goals of the treatment of chronic kidney disease (CKD)-bone mineral disorders, and thus, Pi balance requires special attention. Pi balance is maintained by intestinal absorption, renal excretion, and bone accretion. The kidney is mainly responsible for the plasma Pi concentration. In CKD, reduced glomerular filtration rate leads to various Pi metabolism abnormalities, and Pi absorption in the small intestine also has an important role in Pi metabolism...
November 30, 2016: Clinical and Experimental Nephrology
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