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Bone and mineral disorders

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https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#1
Stéphane Blouin, Nadja Fratzl-Zelman, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Joan C Marini, Frank Rauch
In contrast to "classical" forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype distinctly differs from OI types I to IV by absence of blue sclerae and dentinogenesis imperfecta, by the occurrence of ossification disorders like hyperplastic callus and forearm interosseous membrane ossification...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28546856/epigenetic-regulation-of-runx2-transcription-and-osteoblast-differentiation-by-nicotinamide-phosphoribosyltransferase
#2
Min Ling, Peixin Huang, Shamima Islam, Daniel P Heruth, Xuanan Li, Li Qin Zhang, Ding-You Li, Zhaohui Hu, Shui Qing Ye
BACKGROUND: Bone degenerative disorders like osteoporosis may be initiated by age-related shifts in anabolic and catabolic responses that control bone homeostasis. Although there are studies suggesting that metabolic changes occur with stem cell differentiation, the molecular mechanisms governing energy metabolism and epigenetic modification are not understood fully. Here we reported the key role of nicotinamide phosphoribosyltransferase (Nampt), which is the rate-limiting enzyme in the salvage pathway of NAD biosynthesis from nicotinamide, in the osteogenic differentiation of bone marrow stromal cells...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28546302/considerations-and-controversies-in-managing-chronic-kidney-disease-an-update
#3
REVIEW
Lalita Prasad-Reddy, Diana Isaacs, Alexander Kantorovich
PURPOSE: Current considerations and controversies surrounding the management of chronic kidney disease (CKD) are reviewed. SUMMARY: Patients diagnosed with CKD require a unique clinical approach to prevent medication toxicities and ensure appropriate management of disease-progressing comorbidities, and they require attention to commonly occurring complications that may affect disease control and impact quality of life, including anemia and CKD-bone-mineral disorder (CKD-BMD)...
June 1, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28542241/signification-of-distal-urinary-acidification-defects-in-hypocitraturic-patients
#4
Valentina Forni Ogna, Anne Blanchard, Rosa Vargas-Poussou, Adam Ogna, Stéphanie Baron, Jean-Philippe Bertocchio, Caroline Prot-Bertoye, Jérôme Nevoux, Julie Dubourg, Gérard Maruani, Margarida Mendes, Alejandro Garcia-Castaño, Cyrielle Treard, Nelly Lepottier, Pascal Houillier, Marie Courbebaisse
BACKGROUND AND OBJECTIVES: Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. MATERIALS AND METHODS: This retrospective observational study included 67 patients (32 men), aged 40.7±15.1 years with hypocitraturia (<1.67 mmol/24-h) and nephrolithiasis, nephrocalcinosis, and/or bone demineralization, referred to our center from 2000 to 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28540603/positioning-novel-biologicals-in-ckd-mineral-and-bone-disorders
#5
REVIEW
Lida Tartaglione, Marzia Pasquali, Silverio Rotondi, Maria Luisa Muci, Adrian Covic, Sandro Mazzaferro
Renal osteodystrophy (ROD), the histologic bone lesions of chronic kidney disease (CKD), is now included in a wider syndrome with laboratory abnormalities of mineral metabolism and extra-skeletal calcifications or CKD-mineral and bone disorders (CKD-MBD), to highlight the increased burden of mortality. Aging people, frequently identified as early CKD, could suffer from either the classical age-related osteoporosis (OP) or ROD. Distinguishing between these two bone diseases may not be easy without bone biopsy...
May 24, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28538496/committee-opinion-no-702-female-athlete-triad
#6
(no author information available yet)
The female athlete triad is a medical condition observed in physically active females involving three components: 1) low energy availability with or without disordered eating, 2) menstrual dysfunction, and 3) low bone density. An individual does not need to show clinical manifestations of all three components of the female athlete triad simultaneously to be affected by the condition. Consequences of these clinical conditions may not be completely reversible, so prevention, early diagnosis, and intervention are critical...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28538492/committee-opinion-no-702-summary-female-athlete-triad
#7
(no author information available yet)
The female athlete triad is a medical condition observed in physically active females involving three components: 1) low energy availability with or without disordered eating, 2) menstrual dysfunction, and 3) low bone density. An individual does not need to show clinical manifestations of all three components of the female athlete triad simultaneously to be affected by the condition. Consequences of these clinical conditions may not be completely reversible, so prevention, early diagnosis, and intervention are critical...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28535521/fibroblast-growth-factor-23-mineral-metabolism-and-beyond
#8
Alexander Grabner, Sandro Mazzaferro, Giuseppe Cianciolo, Stefanie Krick, Irene Capelli, Silverio Rotondi, Claudio Ronco, Gaetano La Manna, Christian Faul
Patients affected by chronic kidney disease (CKD) exhibit a high risk of cardiovascular mortality that is poorly explained by traditional risk factors. There is a growing awareness about the role of derangement of mineral metabolism that is currently accepted as a trigger and sustainer of cardiovascular disease (CVD) in CKD patients. The synthetic definition of CKD mineral and bone disorder (CKD-MBD) split the concept that the indexes of mineral metabolism extend their effects beyond the bone until the vascular wall and metabolic milieu of CKD patients through complex pathways...
2017: Contributions to Nephrology
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#9
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28525528/sevelamer-versus-calcium-based-phosphate-binders-for-chronic-kidney-disease
#10
Gonzalo A Bravo-Soto, Trinidad Madrid
Chronic kidney disease-mineral and bone disorder is prevalent. There is controversy regarding whether calcium-based phosphate binders or sevelamer - a non-calcium phosphate binder – constitute a better therapeutic alternative. Searching in Epistemonikos database, which is maintained by screening multiple information sources, we identified 12 systematic reviews comprising 61 studies of which 41 correspond to randomized trials addressing the question of this article. We combined the evidence using meta-analysis and generated a summary of findings following the GRADE approach...
May 12, 2017: Medwave
https://www.readbyqxmd.com/read/28520584/eating-disorders-and-bone-metabolism-in-women
#11
Lauren Robinson, Nadia Micali, Madhusmita Misra
PURPOSE OF REVIEW: Eating Disorders are psychiatric disorders associated with a high risk for low bone mineral density (BMD) and fractures. Low BMD is a consequence of undernutrition, changes in body composition, and hormonal alterations. This review summarizes recent findings regarding novel strategies for assessing bone outcomes in patients with eating disorders, factors contributing to altered bone metabolism, and possible therapeutic strategies. RECENT FINDINGS: Emerging research in this field suggests that not only anorexia nervosa, but also bulimia nervosa results in lower BMD compared to controls...
May 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28515711/the-impact-of-glucagon-like-peptide-1-on-bone-metabolism-and-its-possible-mechanisms
#12
REVIEW
Chenhe Zhao, Jing Liang, Yinqiu Yang, Mingxiang Yu, Xinhua Qu
The impact of antidiabetic drugs on bone metabolism is drawing increasing attention due to the discovery of a correlation between type 2 diabetes mellitus (T2DM) and osteoporosis. Glucagon-like peptide-1 (GLP-1) receptor agonists are a novel and promising class of drugs for T2DM, which may also have clinical applications in bone tissue disorders. This review examines the impact of GLP-1 on bone metabolism, including enhancement of bone mineral density and improvement of bone quality. However, the precise effect of GLP-1 on fracture risk has not been unambiguously defined...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28513571/fat-sugar-and-bone-health-a-complex-relationship
#13
REVIEW
Li Tian, Xijie Yu
With people aging, osteoporosis is expected to increase notably. Nutritional status is a relatively easily-modified risk factor, associated with many chronic diseases, and is involved in obesity, diabetes, and coronary heart disease (CHD), along with osteoporosis. Nutrients, such as fats, sugars, and proteins, play a primary function in bone metabolism and maintaining bone health. In Western nations, diets are generally high in saturated fats, however, currently, the nutritional patterns dominating in China continue to be high in carbohydrates from starch, cereals, and sugars...
May 17, 2017: Nutrients
https://www.readbyqxmd.com/read/28508128/the-cardiothoracic-ratio-and-all-cause-and-cardiovascular-disease-mortality-in-patients-undergoing-maintenance-hemodialysis-results-of-the-mbd-5d-study
#14
Hiroaki Ogata, Junji Kumasawa, Shingo Fukuma, Masahide Mizobuchi, Eriko Kinugasa, Masafumi Fukagawa, Shunichi Fukuhara, Tadao Akizawa
BACKGROUND: The cardiothoracic ratio (CTR) is a non-invasive left ventricular hypertrophy index. However, whether CTR associates with cardiovascular disease (CVD) and mortality in hemodialysis (HD) populations is unclear. METHODS: Using a Mineral and Bone disorder Outcomes Study for Japanese CKD Stage 5D Patients (MBD-5D Study) subcohort, 2266 prevalent HD patients (age 62.8 years, female 38.0%, HD duration 9.4 years) with secondary hyperparathyroidism (SHPT) whose baseline CTR had been recorded were selected...
May 15, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28493902/circulating-levels-of-sclerostin-but-not-dkk1-associate-with-laboratory-parameters-of-ckd-mbd
#15
Geert J Behets, Liesbeth Viaene, Björn Meijers, Frank Blocki, Vincent M Brandenburg, Anja Verhulst, Patrick C D'Haese, Pieter Evenepoel
INTRODUCTION: Mounting evidence indicates that a disturbed Wnt-β-catenin signaling may be involved in the pathogenesis of chronic kidney disease-mineral and bone and mineral disorder (CKD-MBD). Data on the impact of CKD on circulating levels of the Wnt antagonists sclerostin and Dickkopf related protein 1 (DKK1) and the relationship with laboratory parameters of CKD-MBD are incomplete. METHODS: We analyzed serum sclerostin and DKK1 in 308 patients across the stages of chronic kidney disease (kDOQI stage 1-2 n = 41; CKD stage 3 n = 54; CKD stage 4-5 n = 54; hemodialysis n = 100; peritoneal dialysis n = 59) as well as in 49 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28493277/bone-mineral-density-in-complete-androgen-insensitivity-syndrome-and-the-timing-of-gonadectomy
#16
Thomas F J King, Winnie Z M Wat, Sarah M Creighton, Gerard S Conway
OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS...
May 10, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28489557/reduced-bone-mineral-density-in-chinese-children-with-phenylketonuria
#17
Kundi Wang, Ming Shen, Honglei Li, Xiaowen Li, Chun He
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Our aim was to evaluate bone mineral density (BMD) in children with PKU. METHODS: To investigate the BMD of children with PKU, 41 children with PKU and 64 healthy controls were recruited (all 3-4 years of age). Body weight and height, BMD, Phe blood levels, thyroid function, calcium, phosphorus, iron metabolism markers, and vitamin D3 were measured...
May 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28487345/association-of-parameters-of-mineral-bone-disorder-with-mortality-in-patients-on-hemodialysis-according-to-level-of-residual-kidney-function
#18
Mengjing Wang, Yoshitsugu Obi, Elani Streja, Connie M Rhee, Wei Ling Lau, Jing Chen, Chuanming Hao, Takayuki Hamano, Csaba P Kovesdy, Kamyar Kalantar-Zadeh
BACKGROUND AND OBJECTIVES: The relationship between mineral and bone disorders and survival according to residual kidney function status has not been previously studied in patients on hemodialysis. We hypothesized that residual kidney function, defined by renal urea clearance, modifies the association between mineral and bone disorder parameters and mortality. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The associations of serum phosphorus, albumin-corrected calcium, intact parathyroid hormone, and alkaline phosphatase with all-cause mortality were examined across three strata (<1...
May 9, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28487069/development-of-nanomaterials-for-bone-targeted-drug-delivery
#19
REVIEW
Hao Cheng, Aditya Chawla, Yafeng Yang, Yuxiao Li, Jin Zhang, Hae Lin Jang, Ali Khademhosseini
Bone is one of the major organs of the human body; it supports and protects other organs, produces blood cells, stores minerals, and regulates hormones. Therefore, disorders in bone can cause serious morbidity, complications, or mortality of patients. However, despite the significant occurrence of bone diseases, such as osteoarthritis (OA), osteoporosis (OP), non-union bone defects, bone cancer, and myeloma-related bone disease, their effective treatments remain a challenge. In this review, we highlight recent progress in the development of nanotechnology-based drug delivery for bone treatment, based on its improved delivery efficiency and safety...
May 6, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/28486640/generalized-metabolic-bone-disease-and-fracture-risk-in-rothmund-thomson-syndrome
#20
Felicia Cao, Linchao Lu, Steven A Abrams, Keli M Hawthorne, Allison Tam, Weidong Jin, Brian Dawson, Roman Shypailo, Hao Liu, Brendan Lee, Sandesh Cs Nagamani, Lisa L Wang
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. In this report, we provide a detailed evaluation of 29 individuals with RTS with respect to their metabolic bone status including bone mineral density, calcium kinetics studies, and markers of bone remodeling...
May 9, 2017: Human Molecular Genetics
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