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Mineral bone disease

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https://www.readbyqxmd.com/read/28225307/17a-hydroxylase-17-20-lyase-deficiency-clinical-and-molecular-characterization-of-eight-chinese-patients
#1
Chaoming Wu, Shanshan Fan, Yanying Qian, Yingying Zhou, Jian Jin, Zhijuan Dai, Ling Jiang
BACKGROUND: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in CYP17A1 gene. OBJECTIVE: To better understand 17OHD, a rare disease, we described the clinical features and analyzed the CYP17A1 gene in eight affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from six families. The diagnosis was established according to their clinical, biochemical, hormonal and radiological characteristics...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28225053/genetically-predicted-milk-consumption-and-bone-health-ischemic-heart-disease-and-type-2-diabetes-a-mendelian-randomization-study
#2
Q Yang, S L Lin, S L Au Yeung, M K Kwok, L Xu, G M Leung, C M Schooling
BACKGROUND/OBJECTIVES: Milk provides protein and micronutrients, and is recommended by some dietary guidelines, particularly for bone health. Meta-analysis of small randomized controlled trials suggests that milk may increase bone mineral density, but they are very heterogeneous. No randomized controlled trial has assessed the effects of milk on major chronic diseases. Previous Mendelian randomization studies of milk did not consider bone health, found no effects on ischemic heart disease (IHD) or type 2 diabetes (T2D) but higher body mass index...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28222650/is-surgery-always-indicated-in-rachitic-coronal-knee-deformities-our-experience-in-198-knees
#3
Jatin Prakash, Anil Mehtani, Alok Sud, Baccha K Reddy
INTRODUCTION: Defective mineralization of osteoid matrix prior to physeal closure causes rickets. Poor calcification of the cartilage matrix in the zone of provisional calcification causes flattened skull, rachitic rosary, bowed legs, coxa vara and brittle bones. The recent literature has seen an increase in the incidence of the disease in both developing and developed nations. We evaluated behaviour of lower limb deformities due to nutritional rickets in 117 patients. MATERIALS AND METHODS: A prospective study was conducted from January 2009 to December 2011 for clinical and radiological evaluation of knee deformities in nutritional rickets...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28222408/severe-osteoporosis-with-multiple-spontaneous-vertebral-fractures-in-a-young-male-carrying-triple-polymorphisms-in-the-vitamin-d-receptor-collagen-type-1-and-low-density-lipoprotein-receptor-related-peptide-5-genes
#4
Maria P Yavropoulou, Panagoulia Kollia, Dimitris Chatzidimitriou, Stavroula Samara, Lemonia Skoura, John G Yovos
: Osteoporosis is a common disease with a strong genetic component. Several studies have reported the vitamin D receptor (VDR), collagen type I (COL1A1), and LDL receptor-related protein 5 (LRP5) genes as the most likely candidates. However, most of the studies have been carried out in postmenopausal women and older men and show inconsistent results. CASE PRESENTATION: We report a case of a 26-year old male who presented with severe back pain of acute onset, unrelated to any kind of trauma, and diffuse myalgia...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222031/a-retrospective-analysis-of-longitudinal-changes-in-bone-mineral-content-in-cystic-fibrosis
#5
Adela Chirita-Emandi, Sheila Shepherd, Andreas Kyriakou, Jane D McNeilly, Carol Dryden, Donna Corrigan, Anne Devenny, Syed Faisal Ahmed
BACKGROUND: We aimed to describe the longitudinal changes in bone mineral content and influencing factors, in children with cystic fibrosis (CF). METHODS: One hundred children (50 females) had dual X-ray absorptiometry (DXA) performed. Of these, 48 and 24 children had two to three scans, respectively over 10 years of follow-up. DXA data were expressed as lumbar spine bone mineral content standard deviation score (LSBMCSDS) adjusted for age, gender, ethnicity and bone area...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28220389/polymorphisms-in-key-bone-modulator-cytokines-genes-influence-bisphosphonates-therapy-in-postmenopausal-women
#6
C A D Lima, N R Javorski, A P O Souza, A D Barbosa, A P M C Valença, S Crovella, P R E Souza, J De Azevedo Silva, P Sandrin-Garcia
Osteoporosis is a multifactorial and debilitating disease resulting from decreased bone mineral density (BMD) and loss of tissue microarchitecture. Ineffective therapies may lead to bone fractures and subsequent death. Single nucleotide polymorphisms (SNPs) in key immune regulator genes have been associated with therapeutic response to bisphosphonates, which are the first therapeutic line of choice for osteoporosis. However, cytokine pathways and their relation with therapeutic adhesion remain to be fully elucidated...
February 21, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28217867/effects-of-25-hydroxyvitamin-d-and-vitamin-d-binding-protein-on-bone-mineral-density-and-disease-activity-in-malaysian-patients-with-rheumatoid-arthritis
#7
Tze Hao Wong, Esha Das Gupta, Ammu K Radhakrishnan, Suk Chyn Gun, Gandhi Chembalingam, Swan Sim Yeap
AIM: Vitamin D3 [25(OH)D] has been shown to be important in bone health and can influence rheumatoid arthritis (RA) disease activity. Vitamin D-binding protein (VDBP) levels vary with race and may modulate 'bioavailable' levels of 25(OH)D. The aim of this study was to explore the relationships between 25(OH)D, VDBP and clinical factors on bone mineral density (BMD) in a group of multi-ethnic Malaysian RA patients and healthy controls. METHODS: A cross-sectional study of 77 female RA patients and 29 controls was performed...
February 20, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28214296/abnormally-high-and-heterogeneous-bone-matrix-mineralization-after-childhood-solid-organ-transplantation-a-complex-pathology-of-low-bone-turnover-and-local-defects-in-mineralization
#8
Nadja Fratzl-Zelman, Helena Valta, Renata C Pereira, Barbara M Misof, Paul Roschger, Hannu Jalanko, Kathrine Wesseling-Perry, Klaus Klaushofer, Outi Mäkitie
Chronic renal, liver and heart failure in children associates with multiple skeletal complications. Increased fracture incidence often persists after transplantation and could be related to alterations in bone material properties. In the present cohort study we evaluated bone mineralization density distribution (BMDD) by quantitative backscattered electron imaging (qBEI) in 23 pediatric solid organ allograft recipients with suspected osteoporosis. We measured BMDD in the entire cross-sectional area of transiliac bone biopsies obtained from kidney (n = 9), liver (n = 9) and heart (n = 5) transplant recipients (aged 7...
February 18, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28212898/low-serum-iron-is-associated-with-high-serum-intact-fgf23-in-elderly-men-the-swedish-mros-study
#9
Catharina Lewerin, Östen Ljunggren, Herman Nilsson-Ehle, Magnus K Karlsson, Hans Herlitz, Mattias Lorentzon, Claes Ohlsson, Dan Mellström
BACKGROUND: Fibroblast growth factor (FGF23) is a protein that is produced by osteoblasts and osteocytes. Increased serum levels of FGF23 have been associated with increased risks of osteoporotic fractures and cardiovascular disease, particularly in participants with poor renal function. Serum iron (Fe) has been suggested as a regulator of FGF23 homeostasis. OBJECTIVE: To determine whether Fe and iron status are determinants of the levels of intact FGF23 (iFGF23) in elderly men...
February 14, 2017: Bone
https://www.readbyqxmd.com/read/28206698/fkbp10-deletion-in-osteoblasts-leads-to-qualitative-defects-in-bone
#10
Caressa D Lietman, Joohyun Lim, Ingo Grafe, Yuqing Chen, Hao Ding, Xiaohong Bi, Catherine G Ambrose, Nadja Fratzl-Zelman, Paul Roschger, Klaus Klaushofer, Wolfgang Wagermaier, Ingo Schmidt, Peter Fratzl, Jyoti Rai, MaryAnn Weis, David Eyre, Douglas R Keene, Deborah Krakow, Brendan H Lee
Osteogenesis Imperfecta (OI), also known as brittle bone disease, displays a spectrum of clinical severity from mild (OI type I) to severe early lethality (OI type II), with clinical features including low bone mass, fractures and deformities. Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65KDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. We previously showed that Fkbp10 expression is limited to bone, tendon and ligaments in postnatal tissues...
February 16, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28204954/biopsy-vs-peripheral-computed-tomography-to-assess-bone-disease-in-ckd-patients-on-dialysis-differences-and-similarities
#11
I D B Marques, M J C L N Araújo, F G Graciolli, L M Dos Reis, R M Pereira, M R Custódio, V Jorgetti, R M Elias, E David-Neto, R M A Moysés
: Results from bone biopsy and high-resolution peripheral quantitative computed tomography (HR-pQCT) were compared in 31 CKD patients. There was an agreement mainly for cortical compartment that may represent a perspective on the fracture risk assessment. HR-pQCT also provided some clues on the turnover status, which warrants further studies. INTRODUCTION: Chronic kidney disease (CKD) patients are at high risk of bone disease. Although bone biopsy is considered the best method to evaluate bone disease, it is expensive and not always available...
February 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28203361/long-term-iron-polymaltose-infusions-associated-with-hypophosphataemic-osteomalacia-a-report-of-two-cases-and-review-of-the-literature
#12
REVIEW
Ramy H Bishay, Kirtan Ganda, Markus J Seibel
Iron-induced hypophosphataemic osteomalacia remains under-recognized as a potential complication of parenteral iron therapy. We here report two cases of symptomatic hypophosphataemic osteomalacia with multiple insufficiency fractures in the context of chronic gastrointestinal blood loss, necessitating monthly iron polymaltose infusions over prolonged periods of time. Respective blood tests revealed severe hypophosphataemia [0.29 and 0.43; normal range (NR) 0.8-1.5 mmol/l] in the presence of normal serum calcium and 25-hydroxy vitamin D levels...
January 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28203357/wrist-bone-mineral-density-utility-in-diagnosing-hip-osteoporosis-in-postmenopausal-women
#13
Bina Eftekhar-Sadat, Mostafa Ghavami, Vahideh Toopchizadeh, Masood Ghahvechi Akbari
BACKGROUND: Osteoporosis is a common bone disease that increases with age. Wrist bone mineral density (BMD) has significant correlation with other skeletal sites and it could be used as a diagnostic method for osteoporosis. The purpose of this study was to evaluate the role of wrist BMD in diagnosing osteoporosis in postmenopausal women. METHODS: In this cross-sectional study, 99 postmenopausal women with mean age of 57 ± 6.9 (range 50-76) years were evaluated...
December 2016: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28201994/risedronate-therapy-in-patients-with-mild-to-moderate-chronic-kidney-disease-with-osteoporosis-post-hoc-analysis-of-data-from-the-risedronate-phase-iii-clinical-trials
#14
Takashi Shigematsu, Ryoichi Muraoka, Toshitsugu Sugimoto, Yoshiki Nishizawa
BACKGROUND: The clinical effect of bisphosphonate treatment has not been clearly evaluated by kidney function in Japanese Chronic Kidney Disease (CKD) patients with osteoporosis. This study analyzed the data from three risedronate Japanese phase III trials. The clinical effect of risedronate therapy was evaluated in CKD patients with osteoporosis. METHODS: The Japanese clinical trials involved 852 subjects who received risedronate (2.5 mg once daily or 17.5 mg once weekly) and whose estimated glomerular filtration rate (eGFR) were calculable and at ≥ 30 mL/min...
February 15, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28199411/cortical-porosity-not-superior-to-conventional-densitometry-in-identifying-hemodialysis-patients-with-fragility-fracture
#15
Bernhard Bielesz, Janina M Patsch, Lukas Fischer, Marija Bojic, Wolfgang Winnicki, Michael Weber, Daniel Cejka
Hemodialysis (HD) patients face increased fracture risk, which is further associated with elevated risk of hospitalization and mortality. High-resolution peripheral computed tomography (HR-pQCT) has advanced our understanding of bone disease in chronic kidney disease by characterizing distinct changes in both the cortical and trabecular compartments. Increased cortical porosity (Ct.Po) has been shown to be associated with fracture in patients with osteopenia or in postmenopausal diabetic women. We tested whether the degree of Ct...
2017: PloS One
https://www.readbyqxmd.com/read/28194480/evaluation-of-bone-mineral-density-and-microarchitectural-parameters-by-dxa-and-hr-pqct-in-37-children-and-adults-with-x-linked-hypophosphatemic-rickets
#16
G P Colares Neto, R M R Pereira, J C Alvarenga, L Takayama, M F A Funari, R M Martin
: In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls...
February 13, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28194446/knockin-mouse-with-mutant-g%C3%AE-11-mimics-human-inherited-hypocalcemia-and-is-rescued-by-pharmacologic-inhibitors
#17
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/28193296/comparison-between-clinical-significance-of-height-adjusted-and-weight-adjusted-appendicular-skeletal-muscle-mass
#18
Taishi Furushima, Motohiko Miyachi, Motoyuki Iemitsu, Haruka Murakami, Hiroshi Kawano, Yuko Gando, Ryoko Kawakami, Kiyoshi Sanada
BACKGROUND: This study aimed to compare relationships between height- or weight-adjusted appendicular skeletal muscle mass (ASM/Ht(2) or ASM/Wt) and risk factors for cardiometabolic diseases or osteoporosis in Japanese men and women. METHODS: Subjects were healthy Japanese men (n = 583) and women (n = 1218). The study population included a young group (310 men and 357 women; age, 18-40 years) and a middle-aged and elderly group (273 men and 861 women; age, ≥41 years)...
February 13, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28189120/does-the-opg-rankl-system-contribute-to-the-bone-vascular-axis-in-chronic-kidney-disease-a-systematic-review
#19
REVIEW
Beata Znorko, Ewa Oksztulska-Kolanek, Małgorzata Michałowska, Tomasz Kamiński, Krystyna Pawlak
Vascular calcification (VC) is highly prevalent in patients with chronic kidney disease (CKD) and is strongly associated with cardiovascular mortality and morbidity. Accumulating evidence over the past decade has challenged the hypothesis of close interaction between bone and VC what raises the possibility of a common underlying pathophysiological mechanism. Lately, bone regulatory proteins such as: osteoprotegerin (OPG) and Receptor Activator for Nuclear Factor κB Ligand (RANKL) has attracted attention of researchers as a possible key mediators of bone-vascular calcification imbalance...
February 8, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28188861/functions-of-rho-family-of-small-gtpases-and-rho-associated-coiled-coil-kinases-in-bone-cells-during-differentiation-and-mineralization
#20
REVIEW
Agnieszka Strzelecka-Kiliszek, Saida Mebarek, Monika Roszkowska, René Buchet, David Magne, Slawomir Pikula
BACKGROUND: Members of Rho-associated coiled-coil kinases (ROCKs) are effectors of Rho family of small GTPases. ROCKs have multiple functions that include regulation of cellular contraction and polarity, adhesion, motility, proliferation, apoptosis, differentiation, maturation and remodeling of the extracellular matrix (ECM). SCOPE OF THE REVIEW: Here, we focus on the action of RhoA and RhoA effectors, ROCK1 and ROCK2, in cells related to tissue mineralization: mesenchymal stem cells, chondrocytes, pre-osteoblasts, osteoblasts, osteocytes, lining cells and osteoclasts...
February 7, 2017: Biochimica et Biophysica Acta
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