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Bone and mineral disorders

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https://www.readbyqxmd.com/read/29344330/developments-in-rare-bone-diseases-and-mineral-disorders
#1
REVIEW
Siobhan Bacon, Rachel Crowley
In the last decade, there have been a number of significant advances made in the field of rare bone diseases. In this review, we discuss the expansion of the classification system for osteogenesis imperfecta (OI) and the resultant increase in therapeutic options available for management of OI. Bisphosphonates remain the most widely used intervention for OI, although the effect on fracture rate reduction is equivocal. We review the other therapies showing promising results, including denosumab, teriparatide, sclerostin, transforming growth factor β inhibition and gene targeted approaches...
January 2018: Therapeutic Advances in Chronic Disease
https://www.readbyqxmd.com/read/29335796/association-between-frailty-and-bone-loss-in-patients-undergoing-maintenance-hemodialysis
#2
Kei Yoneki, Jun Kitagawa, Keika Hoshi, Manae Harada, Takaaki Watanabe, Takahiro Shimoda, Ryota Matsuzawa, Atsushi Yoshida, Yusuke Matsunaga, Yasuo Takeuchi, Kentaro Kamiya, Atsuhiko Matsunaga
Frailty is significantly associated with bone loss in the general population. However, it is unclear whether this association also exists in patients undergoing hemodialysis who have chronic kidney disease-mineral and bone disorder (CKD-MBD). This study aimed to assess the association between frailty and bone loss in patients undergoing hemodialysis. This cross-sectional study included 214 (90 women, 124 men) Japanese outpatients undergoing maintenance hemodialysis three times per week, with a mean age of 67...
January 15, 2018: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29334773/macf1-overexpression-by-transfecting-the-21-kbp-large-plasmid-pegfp-c1a-acf7-promotes-osteoblast-differentiation-and-bone-formation
#3
Yan Zhang, Chong Yin, Lifang Hu, Zhihao Chen, Fan Zhao, Dijie Li, Jianhua Ma, Xiaoli Ma, Peihong Su, Wuxia Qiu, Chaofei Yang, Pai Wang, Siyu Li, Ge Zhang, Liping Wang, Airong Qian, Cory Xian
Microtubule actin crosslinking factor 1 (MACF1) is a large spectraplakin protein known to have crucial roles in regulating cytoskeletal dynamics, cell migration, growth and differentiation. However, its role and action mechanism in bone remain unclear. This study investigated the optimal conditions for effective transfection of the large plasmid PEGFP-C1A-ACF7 (~21 kbp) containing the full-length human MACF1 cDNA and the potential role of MACF1 in bone formation. To enhance MACF1 expression, the large plasmid was transfected into osteogenic cells by electroporation in vitro and mouse calvaria with nanoparticles...
January 15, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29331397/persistent-hyperparathyroidism-as-a-risk-factor-for-long-term-graft-failure-the-need-to-discuss-indication-for-parathyroidectomy
#4
Maria Júlia Correia Lima Nepomuceno Araujo, Janaina Almeida Mota Ramalho, Rosilene Motta Elias, Vanda Jorgetti, William Nahas, Melani Custodio, Rosa M A Moysés, Elias David-Neto
BACKGROUND: Although a successful kidney transplant (KTx) improves most of the mineral and bone disorders (MBD) produced by chronic kidney disease (CKD), hyperparathyroidism may persist (pHPT). Current guidelines recommend parathyroidectomy if serum parathormone is persistently elevated 1 year after KTx, because pHPT has been recently associated with poor graft outcomes. However, whether patients with pHPT and adequate renal function are at risk for long-term graft failure is unknown...
January 10, 2018: Surgery
https://www.readbyqxmd.com/read/29319133/the-assessment-of-testosterone-and-radioisotopic-index-of-bone-metabolism-and-bone-mineral-density-in-men-with-testosterone-deficiency-after-one-year-of-testosterone-therapy
#5
Wieslaw Tryniszewski, Grzegorz Kamiński, Zbigniew Maziarz, Michal Nowak, Mariusz Gadzicki, Maciej Radek
BACKGROUND: Testosterone deficiency in men is characterized by typical symptoms of hypogonadism and negative influence on the preservation of bone mass. In this study, we analysed the relationship between testosterone concentration and bone metabolism. Moreover, we assessed the impact of one-year compensation of testosterone deficiency in elderly men on bone metabolism and bone mineral density. Radioisotopic methods of bone metabolism assessment provide new research opportunities. MATERIALS AND METHODS: Men with total testosterone concentration (TT) ≤ 3 ng/ml were included into this study...
January 10, 2018: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/29315805/gender-specific-risk-factors-for-low-bone-mineral-density-in-patients-taking-antipsychotics-for-psychosis
#6
Min Jhon, Taeyoung Yoo, Ju-Yeon Lee, Seon-Young Kim, Jae-Min Kim, Il-Seon Shin, Lana Williams, Michael Berk, Jin-Sang Yoon, Sung-Wan Kim
OBJECTIVE: This study examined clinical and gender-specific risk factors for low bone mineral density (BMD) in adult patients with psychotic disorders. METHODS: The study included 285 community-dwelling patients with psychotic disorders. Dual-energy X-ray absorptiometry was used to measure BMD. Clinical characteristics associated with low BMD were identified with logistic regression analysis in total population and each gender. RESULTS: Fifty-eight (20...
January 8, 2018: Human Psychopharmacology
https://www.readbyqxmd.com/read/29302265/the-effect-of-low-dose-intravenous-bisphosphonate-treatment-on-osteoporosis-in-children-with-quadriplegic-cerebral-palsy
#7
Soon Jeong Moon, Young Min An, Soon Ki Kim, Young Se Kwon, Ji Eun Lee
Purpose: Quadriplegic children with cerebral palsy are more susceptible to osteoporosis because of various risk factors that interfere with bone metabolism. Pamidronate is effective for pediatric osteoporosis, but there are no guidelines for optimal dosage or duration of treatment in quadriplegic children with osteoporosis. We aimed to evaluate the efficacy of low-dose pamidronate treatment in these patients. Methods: Ten quadriplegic patients on antiepileptic drugs (6 male, 4 female patients; mean age, 10...
December 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29289377/treatment-of-paraphilic-disorders-in-sexual-offenders-or-men-with-a-risk-of-sexual-offending-with-luteinizing-hormone-releasing-hormone-agonists-an-updated-systematic-review
#8
REVIEW
Daniel Turner, Peer Briken
BACKGROUND: Different pharmacologic agents are used in the treatment of paraphilic disorders in sexual offenders or men with a risk of sexual offending, with luteinizing hormone-releasing hormone (LHRH) agonists being the agents introduced more recently to treatment regimens. AIM: To summarize the relevant literature concerning LHRH agonist treatment of paraphilic disorders in sexual offenders and update the previously published systematic review by Briken et al (J Clin Psychiatry 2003;64:890-897)...
January 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29285628/diversity-of-activity-participation-determines-bone-mineral-content-in-the-lower-limbs-of-pre-pubertal-children-with-developmental-coordination-disorder
#9
S S M Fong, D Vackova, A W M Choi, Y T Y Cheng, T T T Yam, X Guo
This study examined the relationships between activity participation and bone mineralization in children with developmental coordination disorder. Limited participation in physical, recreational, social, and skill-based and self-improvement activities contributed to lower bone mineral content. For improved bone health, these children should participate in a variety of activities, not only physical activities. INTRODUCTION: Limited activity participation in children with developmental coordination disorder (DCD) may have a negative impact on bone mineral accrual...
December 28, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29280738/genetic-causes-of-rickets
#10
Sezer Acar, Korcan Demir, Yufei Shi
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B)...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280078/increased-risk-of-fractures-in-patients-with-polycystic-ovary-syndrome-a-nationwide-population-based-retrospective-cohort-study
#11
Hsin-Yi Yang, Herng-Sheng Lee, Wan-Ting Huang, Ming-Jer Chen, Solomon Chih-Cheng Chen, Yueh-Han Hsu
Polycystic ovary syndrome (PCOS) is a complex disorder; various features of this disorder may influence bone metabolism and skeletal mass. The contribution of PCOS to lower bone mineral density has been recognized. However, the impact of PCOS on the long-term risks for fractures remains inconclusive. The aim of this study was to determine the risk of overall fracture and fractures at different anatomic sites in patients with PCOS. Using a nationwide health insurance claims database, we included 11,106 subjects, aged 15-80 years, with newly diagnosed PCOS (ICD-9-CM: 254...
December 26, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29277342/do-immune-cells-lead-the-way-in-subchondral-bone-disturbance-in-osteoarthritis
#12
REVIEW
Adrian Weber, Pok Man Boris Chan, Chunyi Wen
Osteoarthritis (OA) is a whole-joint disorder, and non-cartilage articular pathologies, e.g. subchondral bone disturbance, contribute substantially to the onset and progression of the disease. In the early stage of OA, abnormal mechanical loading leads to micro-cracks or micro-fractures that trigger a reparative process with angiogenesis and inflammatory response. With the progression of disease, cystic lesion, sclerosis and osteophytosis occur at tissue level, and osteoblast dysfunction at cellular level. Osteoblasts derived from OA sclerotic bone produce increased amount of type I collagen with aberrant Col1A1/A2 ratio and poor mineralization capability...
December 22, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29259958/bone-density-status-in-bleeding-disorders-where-are-we-and-what-needs-to-be-done
#13
REVIEW
Hassan Mansouritorghabeh, Zahra Rezaieyazdi
Bleeding disorders, including hemophilia, can be seen in every ethnic population in the world. Among various bleeding disorders, reduced bone density has been addressed in hemophilia A. In recent years, there has been an increasing interest in addressing osteopenia and osteoporosis in hemophilia A. There is little or no study about the possible susceptibility of other individuals with bleeding disorders to reduced bone density. Questions have been raised about the role of blood coagulation factors in bone mineralization...
November 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/29251685/a-new-condition-in-mcardle-disease-poor-bone-health-benefits-of-an-active-lifestyle
#14
Irene Rodríguez-Gómez, Alfredo Santalla, Jorge Díez-Bermejo, Diego Munguía-Izquierdo, Luis M Alegre, Gisela Nogales-Gadea, Joaquin Arenas, Miguel Ángel Martín, Alejandro Lucía, Ignacio Ara
INTRODUCTION-PURPOSE: McArdle disease (muscle glycogen phosphorylase deficiency) is a genetic condition associated with exercise intolerance, but how it affects lean mass (LM) and bone mineral content (BMC) and density (BMD) in patients is unknown. We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association with physical activity levels in patients. METHODS: A case-control, cross-sectional design was used to examine LM, BMC, and BMD by using dual-energy x-ray absorptiometry in 136 young adults of both sexes (36 McArdle patients (33 ± 15 yr) and 103 controls (34 ± 11 yr))...
January 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#15
V Thumbigere-Math, A Alqadi, N I Chalmers, M B Chavez, E Y Chu, M T Collins, C R Ferreira, K FitzGerald, R I Gafni, W A Gahl, K S Hsu, M S Ramnitz, M J Somerman, S G Ziegler, B L Foster
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi) and pyrophosphate (PPi). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29243442/-regression-analysis-of-serum-bone-metabolic-markers-and-traditional-chinese-medicine-syndromes-in-patients-with-ckd-mbd
#16
Hai-Ming Yang, Xian-Jie Meng, Wei Wu, Ying-Lu Liu, Xiao-Juan Zhai
To analyze the interdependent relationship between serum bone metabolic markers and traditional Chinese medicine (TCM) syndromes in patients with chronic kidney disease (stages 3 and 4)-related mineral and bone disorder (CKD-MBD), in order to provide the objective basis for exploring the rules of TCM syndrome differentiation in patients with CKD-MBD. The retrospective survey was conducted to collect 105 cases with CKD (stages 3 and 4)-MBD. General clinical indexes, frequency of TCM syndromes and distribution of TCM syndrome type were investigated...
October 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29241204/achieve-your-goals-together-the-easy-and-reasonable-way-to-treat-chronic-kidney-disease-mineral-bone-disorder
#17
Mario Cozzolino
No abstract text is available yet for this article.
December 7, 2017: Blood Purification
https://www.readbyqxmd.com/read/29239351/association-of-serum-uric-acid-levels-with-osteoporosis-and-bone-turnover-markers-in-a-chinese-population
#18
Dan-Dan Yan, Jie Wang, Xu-Hong Hou, Yu-Qian Bao, Zhen-Lin Zhang, Cheng Hu, Wei-Ping Jia
Recent evidence shows that uric acid is protective against some neurological diseases, but can be detrimental in many metabolic and cardiovascular disorders. In this study, we examined the association between serum uric acid levels and bone metabolism in Chinese males and postmenopausal females. A total of 943 males and 4256 postmenopausal females were recruited in Shanghai. The levels of serum uric acid and bone turnover markers (BTMs) were detected along with other biochemical traits. In addition, the fat distribution was calculated through MRI and image analysis software, and bone mineral density (BMD) was determined using dual-energy X-ray absorptiometry...
December 14, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29238762/etelcalcetide-injectable-calcimimetic-for-the-treatment-of-secondary-hyperparathyroidism-in-hemodialysis-dependent-patients
#19
P A Ureña Torres, J Bover, M Cohen-Solal
Chronic kidney disease is associated with mineral and bone disorders that are now considered as a syndrome. One of the major complications of this syndrome is secondary hyperparathyroidism (SHPT). SHPT increases bone turnover and the risk of fracture. SHPT is also associated with cardiovascular calcification and high mortality risk. The classical medical therapies of SHPT lack long-term efficacy and have undesirable effects on serum calcium and phosphate levels. Surgical parathyroidectomy is a radical therapeutic solution potentially exposing patients to a permanent state of hypoparathyroidism among other complications...
September 2017: Drugs of Today
https://www.readbyqxmd.com/read/29237104/osteoporosis-in-patients-with-ckd-a-diagnostic-dilemma
#20
Ann Hallock
Osteoporosis in patients with chronic kidney disease (CKD) is a complex problem, with diagnostic criteria and treatment plans often debated. The debate creates a practice dilemma for clinicians faced with an aging population and an increasing incidence of fragility fractures. This article discusses the dilemma as seen from the perspective of the nephrology clinician on differentiating osteoporosis from other bone mineral disorders in patients with progressive CKD in order to provide the most efficacious and safe care...
January 2017: Nephrology Nursing Journal: Journal of the American Nephrology Nurses' Association
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