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Bone and mineral disorders

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https://www.readbyqxmd.com/read/28937054/the-importance-of-bone-biopsy-in-chronic-kidney-disease-mineral-bone-disorders
#1
REVIEW
Periklis Dousdampanis, Kostantina Trigka
Renal osteodystrophy (ROD) is not a uniform bone disease; it is a heterogeneous group of metabolic bone diseases due to chronic kidney disease (CKD). The traditional term of ROD does not accurately include the wide spectrum of "CKD-mineral and bone disorder" (CKD-MBD) and has been restricted to define the several specific histologic disturbances of bone disease associated with CKD. Circulating parathyroid hormone (PTH) and total alkaline phosphatase levels do not always reflect bone turnover in CKD-MBD, whereas bone biopsy provides precise information regarding bone pathology...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28918555/prognostic-factors-for-mortality-in-middle-aged-and-older-hemodialysis-patients-a-5-year-observational-study
#2
Kojiro Nagai, Motokazu Matsuura, Kenji Tsuchida, Hiro-Omi Kanayama, Toshio Doi, Jun Minakuchi
Clinical guidelines for hemodialysis therapy have been described in an evidence-based manner with most evidence from randomized control trials or retrospective studies in which all generations of the hemodialysis patients were enrolled. Therefore, the question still remains whether these guidelines can be applied to increasing older patients. This study is an observational study, including 735 patients who received maintenance hemodialysis in April 2006. At baseline, the participants' age was 62.1 ± 12...
September 16, 2017: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/28902232/advanced-glycation-end-products-ages-accumulation-in-skin-relations-with-chronic-kidney-disease-mineral-and-bone-disorder
#3
Renata de Almeida França, André de Barros Albuquerque Esteves, Cynthia de Moura Borges, Kélcia Rosana da Silva Quadros, Luiz Carlos Nogueira Falcão, Jacqueline Costa Teixeira Caramori, Rodrigo Bueno de Oliveira
Introduction: Chronic kidney disease (CKD) is associated with high morbidity and mortality rates, main causes related with cardiovascular disease (CVD) and bone mineral disorder (CKD-BMD). Uremic toxins, as advanced glycation end products (AGEs), are non-traditional cardiovascular risk factor and play a role on development of CKD-BMD in CKD. The measurement of skin autofluorescence (sAF) is a noninvasive method to assess the level of AGEs in tissue, validated in CKD patients. Objective: The aim of this study is analyze AGEs measured by sAF levels (AGEs-sAF) and its relations with CVD and BMD parameters in HD patients...
August 28, 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/28899800/bone-mineral-density-and-vitamin-d-status-in-systemic-lupus-erythematosus-sle-a-systematic-review
#4
REVIEW
Tarek Carlos Salman-Monte, Vicenç Torrente-Segarra, Ana Leticia Vega Vidal, Patricia Corzo, F Castro-Dominguez, F Ojeda, Jordi Carbonell Abelló
Despite the improvement in the quality of life of patients with SLE due to scientific and technological advances, SLE remains a disease that over the years may produce irreversible damage to patients. Osteoporosis and secondary bone fractures are two of the major causes of irreparable injury in patients with SLE. Vitamin D insufficiency may play a vital role both in reduced Bone Mineral Density (BMD) and in the appearance of fractures, although its mechanisms of action are still unclear. We performed a systematic review of the literature in order to determine the prevalence and predictors of reduced vitamin D plasma levels, bone loss and the presence of fractures in SLE patients...
September 9, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#5
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28882565/evidence-of-disordered-calcium-metabolism-in-adolescent-girls-with-type-1-diabetes-an-observational-study-using-a-dual-stable-calcium-isotope-technique
#6
David R Weber, Kimberly O O'Brien, George J Schwartz
Type 1 diabetes (T1D) is associated with skeletal abnormalities including low bone density and increased fracture risk. The pathophysiology underlying T1D related skeletal fragility remains unknown. The objective of this study was to use a dual-stable calcium isotope method to investigate the effects of T1D on calcium absorption and estimated calcium retention in adolescent females. Twenty adolescent females with T1D were admitted for a 24-h calcium absorption study using oral ((44)Ca) and intravenous ((42)Ca) stable isotopes for determination of percent gastrointestinal calcium absorption and estimated calcium retention...
September 4, 2017: Bone
https://www.readbyqxmd.com/read/28881669/genetic-evaluations-of-chinese-patients-with-odontohypophosphatasia-resulting-from-heterozygosity-for-mutations-in-the-tissue-non-specific-alkaline-phosphatase-gene
#7
Jia Wan, Li Zhang, Tang Liu, Yewei Wang
BACKGROUND: Hypophosphatasia is a rare heritable metabolic disorder characterized by defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific (liver/bone/kidney) isoenzyme of alkaline phosphatase activity, caused by a number of loss-of-function mutations in the alkaline phosphatase liver type gene. We seek to explore the clinical manifestations and identify the mutations associated with the disease in a Chinese odonto- hypophosphatasia family. RESULTS: The proband and his younger brother affected with premature loss of primary teeth at their 2-year-old...
August 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28879474/pregnancy-related-fractures-a-retrospective-study-of-a-french-cohort-of-52-patients-and-review-of-the-literature
#8
M Laroche, M Talibart, C Cormier, C Roux, P Guggenbuhl, Y Degboe
A retrospective, multicentre study involving 52 patients was carried out to define the causes and characteristics of pregnancy-related osteoporosis. The mean number of vertebral fractures occurring during the last trimester of pregnancy or at the time of delivery was 3.8. This is often promoted by risk factors before or during pregnancy. INTRODUCTION: In order to define the causes or predisposing factors of pregnancy-related osteoporosis and its clinical, radiological and bone density characteristics, laboratory findings, course and outcome, we carried out a retrospective multicentre study...
September 6, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28878383/avascular-necrosis-of-femoral-head-a-metabolomic-biophysical-biochemical-electron-microscopic-and-histopathological-characterization
#9
Aswath Narayanan, Prakash Khanchandani, Roshan M Borkar, Chandrashekar Reddy Ambati, Arun Roy, Xu Han, Ritesh N Bhoskar, Srinivas Ragampeta, Francis Gannon, Vijaya Mysorekar, Balasubramanyam Karanam, Sai Muthukumar V, Venketesh Sivaramakrishnan
Avascular necrosis of the femur head (AVNFH) is a debilitating disease caused due to the use of alcohol, steroids, following trauma or unclear (idiopathic) etiology, affecting mostly the middle aged population. Clinically AVNFH is associated with impaired blood supply to the femoral head resulting in bone necrosis and collapse. Although Homocysteine (HC) has been implicated in AVNFH, levels of homocysteine and its associated pathway metabolites have not been characterized. We demonstrate elevated levels of homocysteine and concomitantly reduced levels of vitamins B6 and B12, in plasma of AVNFH patients...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28873971/clinical-practice-recommendations-for-treatment-with-active-vitamin-d-analogues-in-children-with-chronic-kidney-disease-stages-2-5-and-on-dialysis
#10
Rukshana Shroff, Mandy Wan, Evi V Nagler, Sevcan Bakkaloglu, Mario Cozzolino, Justine Bacchetta, Alberto Edefonti, Constantinos J Stefanidis, Johan Vande Walle, Gema Ariceta, Günter Klaus, Dieter Haffner, Claus Peter Schmitt
In patients with chronic kidney disease (CKD), renal synthesis of active vitamin D [1,25-dihydroxyvitamin D (1,25(OH)2D)] declines and is associated with hypocalcaemia, secondary hyperparathyroidism and the spectrum of CKD-mineral and bone disorder (MBD). In advanced CKD, active vitamin D analogues, including alfacalcidol, calcitriol and paricalcitol, are routinely administered. There are few studies on the use of vitamin D analogues in children with CKD and on dialysis. It is difficult to define bone-specific outcomes that can guide treatment with active vitamin D analogues in children with CKD-MBD...
July 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28873969/clinical-practice-recommendations-for-native-vitamin-d-therapy-in-children-with-chronic-kidney-disease-stages-2-5-and-on-dialysis
#11
Rukshana Shroff, Mandy Wan, Evi V Nagler, Sevcan Bakkaloglu, Dagmar-C Fischer, Nicholas Bishop, Mario Cozzolino, Justine Bacchetta, Alberto Edefonti, Constantinos J Stefanidis, Johan Vande Walle, Dieter Haffner, Günter Klaus, Claus Peter Schmitt
Vitamin D deficiency is widely prevalent and often severe in children and adults with chronic kidney disease (CKD). Although native vitamin D {25-hydroxyvitamin D [25(OH)D]} is thought to have pleiotropic effects on many organ systems, its skeletal effects have been most widely studied. The 25(OH)D deficiency is causally linked with rickets and fractures in healthy children and those with CKD, contributing to the CKD-mineral and bone disorder (MBD) complex. There are few studies to provide evidence for vitamin D therapy or guidelines for its use in CKD...
July 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28869938/mineral-and-bone-disorder-in-chronic-kidney-disease-a-case-report-from-vietnam
#12
Pham Van Bui, Nguyyen Minh Tuan, Huynh Thi Nguyen Nghia, Pham Nguyen Thanh Phuong
We report a case of calcium pyrophosphate dihydrate deposition disease (CPDD) involving a patient on maintenance hemodialysis (MHD). The 32-year-old man presented in August 2016 with a complaint of left shoulder swelling of 8 months' duration with no trauma or fever. He was diagnosed with nephrotic syndrome in 1998, which progressed to ESRD. He commenced MHD in 2012. Examination at our hospital revealed a soft nontender swelling of the left shoulder. Blood biochemistry showed elevated serum urate, phosphate, β2 microglobulin, and parathyroid hormone...
2017: Blood Purification
https://www.readbyqxmd.com/read/28861640/bone-mineral-density-in-boys-diagnosed-with-autism-spectrum-disorder-a-case-control-study
#13
Kelly Barnhill, Lucas Ramirez, Alan Gutierrez, Wendy Richardson, C Nathan Marti, Amy Potts, Rebeca Shearer, Claire Schutte, Laura Hewitson
This study compared bone mineral density (BMD) of the spine obtained by dual-energy X-ray absorptiometry (DEXA), nutritional status, biochemical markers, and gastrointestinal (GI) symptoms in 4-8 year old boys with Autism Spectrum Disorder (ASD) with a group of age-matched, healthy boys without ASD. Boys with ASD had significantly lower spine BMD compared to controls but this was not correlated with any biochemical markers, dietary intake of calcium and vitamin D, elimination diet status, or GI symptomology...
August 31, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28858097/how-frequent-is-osteogenesis-imperfecta-in-patients-with-idiopathic-osteoporosis-case-reports
#14
Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. PATIENTS CONCERNS: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28843411/the-activin-receptor-is-stimulated-in-the-skeleton-vasculature-heart-and-kidney-during-chronic-kidney-disease
#15
Matthew J Williams, Toshifumi Sugatani, Olga A Agapova, Yifu Fang, Joseph P Gaut, Marie-Claude Faugere, Hartmut H Malluche, Keith A Hruska
We examined activin receptor type IIA (ActRIIA) activation in chronic kidney disease (CKD) by signal analysis and inhibition in mice with Alport syndrome using the ActRIIA ligand trap RAP-011 initiated in 75-day-old Alport mice. At 200 days of age, there was severe CKD and associated Mineral and Bone Disorder (CKD-MBD), consisting of osteodystrophy, vascular calcification, cardiac hypertrophy, hyperphosphatemia, hyperparathyroidism, elevated FGF23, and reduced klotho. The CKD-induced bone resorption and osteoblast dysfunction was reversed, and bone formation was increased by RAP-011...
August 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28843391/-management-of-bone-and-mineral-metabolism-disorders-before-the-dialysis-stage-remains-still-perfectible-data-from-the-french-phosphorus-and-calcium-survey-photo-graphe
#16
Guillaume Jean, Éric Daugas, Hubert Roth, Tilman Drueke, Jean-Louis Bouchet, Thierry Hannedouche, Gérard London, Denis Fouque
Only limited data is available on the management of the chronic kidney disease-associated bone and mineral metabolism disorder (CKD-MBD) in the pre-dialysis stages of CKD in France. A better knowledge of current management habits could lead to an improvement in the implementation of international recommendations (KDIGO). The 3rd version of the French Phosphorus and Calcium Survey Photo-Graphe (Sanofi) included a cohort of CKD stages 4 and 5 patients, whose aim was to examine the prevalence of CKD-MBD and the quality of its management in patients under the care of 62 nephrologists from over 20 geographical regions in France...
August 23, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28842728/discrepancy-between-bone-density-and-bone-material-strength-index-in-three-siblings-with-camurati-engelmann-disease
#17
S Herrera, R Soriano, X Nogués, R Güerri-Fernandez, D Grinberg, N García-Giralt, N Martínez-Gil, S Castejón, A González-Lizarán, S Balcells, A Diez-Perez
Camurati-Engelmann (CE) is a very rare disease affecting one in every million persons worldwide. It is characterized by an enlargement of long bones. We aimed to assess bone characteristics in three siblings with different tools. Even if there was an excess of bone density, quality seemed to be deteriorated. INTRODUCTION: CE disease is a rare monogenic disorder affecting approximately one in every million persons worldwide. It is mainly characterized by a progressive hyperostosis of the periosteum and endosteum of the diaphysis of long bones...
August 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28837758/natural-development-of-dermal-ectopic-bone-in-the-american-alligator-alligator-mississippiensis-resembles-heterotopic-ossification-disorders-in-humans
#18
Brooke H Dubansky, Benjamin D Dubansky
Heterotopic ossification (HO) occurs when soft tissues are inappropriately converted to bony tissue. Several human diseases result in HO with few reliable treatment options. Animal models that naturally produce dermal ectopic bone (i.e., osteoderms), such as crocodilians, have never been utilized as models for studying these disorders in humans. Here, a histological evaluation and staging criteria for osteoderm development is described for the first time in the American alligator (Alligator mississipiensis)...
August 24, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28837274/association-between-bone-mineral-density-and-depressive-symptoms-in-a-population-based-sample
#19
Rocco D Hlis, Roger S McIntyre, Naim M Maalouf, Erin Van Enkevort, E Sherwood Brown
OBJECTIVE: This analysis was conducted to determine the relationship between bone mineral density (BMD) and depressive symptoms in a population-based cohort. METHODS: Data were extracted from the second phase of the Dallas Heart Study (DHS-2), a large, multiethnic population sample in Dallas County, Texas, from September 1, 2007, to December 31, 2009. Depressive symptom severity was measured with the 16-item Quick Inventory of Depressive Symptomatology-Self Report (QIDS-SR₁₆), which is derived from DSM-IV major depressive disorder criteria...
August 22, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28823022/long-term-bisphosphonate-therapy-in-osteogenesis-imperfecta
#20
REVIEW
A Biggin, C F Munns
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a genetic bone disorder resulting in bone fragility. It has a heterogeneous phenotype which typically includes reduced bone mass, multiple fractures, deformity, and chronic disability. Bisphosphonate treatment remains the first-line medical management, but there is still debate on aspects of its effectiveness. This review summarizes current knowledge about long-term bisphosphonate use in OI with recommendations on clinical application...
August 19, 2017: Current Osteoporosis Reports
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