collection
https://read.qxmd.com/read/37857915/the-influence-of-iron-on-bone-metabolism-disorders
#1
REVIEW
Hui Zhang, Fan Yang, Zihou Cao, Youjia Xu, Mingyong Wang
Iron is a necessary trace element in the human body, and it participates in many physiological processes. Disorders of iron metabolism can cause lesions in many tissues and organs, including bone. Recently, iron has gained attention as an independent factor influencing bone metabolism disorders, especially the involvement of iron overload in osteoporosis. The aim of this review was to summarize the findings from clinical and animal model research regarding the involvement of iron in bone metabolism disorders and to elucidate the mechanisms behind iron overload and osteoporosis...
October 19, 2023: Osteoporosis International
https://read.qxmd.com/read/37266843/transition-from-pediatric-to-adult-health-care-in-osteogenesis-imperfecta
#2
REVIEW
Frank Rauch, Suzanne N Morin
PURPOSE: Here, we review issues regarding the transition from pediatric to adult-focused health care for individuals with osteogenesis imperfecta (OI). RECENT FINDINGS: The clinical consequences of OI change during the lifespan. Fracture rates are lower in adults than in children with OI, whereas other manifestations are typically becoming more prominent in adults. The evidence base for the transition to adult health care in OI is thin, as the literature on the topic is limited to qualitative investigations on a small number of participants...
June 2, 2023: Current Osteoporosis Reports
https://read.qxmd.com/read/36817604/alkaline-phosphatase-in-clinical-practice-in-childhood-focus-on-rickets
#3
REVIEW
Giuseppe Cannalire, Simone Pilloni, Susanna Esposito, Giacomo Biasucci, Anna Di Franco, Maria Elisabeth Street
Serum alkaline phosphatase (ALP) and its isoenzymes reflect bone metabolism: ALP increases the ratio of inorganic phosphate to pyrophosphate systemically and facilitates mineralization as well as reduces extracellular pyrophosphate concentration, an inhibitor of mineral formation. On the contrary, low ALP activity is associated with reduction of bone turnover. ALP includes four isoenzymes depending on the site of tissue expression: intestinal ALP, placental ALP, germ cell ALP and tissue nonspecific ALP or liver/bone/kidney ALP...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/36868732/physiopathology-of-phosphate-disorders
#4
REVIEW
Ignacio Portales-Castillo, Timo Rieg, Sheikh B Khalid, Sagar U Nigwekar, Javier A Neyra
Intracellular phosphate is critical for cellular processes such as signaling, nucleic acid synthesis, and membrane function. Extracellular phosphate (Pi) is an important component of the skeleton. Normal levels of serum phosphate are maintained by the coordinated actions of 1,25-dihydroxyvitamin D3, parathyroid hormone and fibroblast growth factor-23, which intersect in the proximal tubule to control the reabsorption of phosphate via the sodium-phosphate cotransporters Npt2a and Npt2c. Furthermore, 1,25-dihydroxyvitamin D3 participates in the regulation of dietary phosphate absorption in the small intestine...
March 2023: Adv Kidney Dis Health
https://read.qxmd.com/read/37007781/vitamin-d-in-pediatric-age-current-evidence-recommendations-and-misunderstandings
#5
JOURNAL ARTICLE
Antonio Corsello, Giulia C I Spolidoro, Gregorio P Milani, Carlo Agostoni
In recent years vitamin D has been in the spotlight of many researchers for its possible role in various disorders, including autoimmune and infectious diseases. Even if vitamin D deficiency remains a major public health problem, its symptomatic manifestations are less and less common in clinical practice, and pediatric age represents a "gray area" where vitamin D supplementation is often administered in the absence of an effective evaluation of its status. Moreover, a poor knowledge about different definitions of "deficiency," "insufficiency," and similar terms is spread among clinicians, while guidelines are not univocal, especially after the first year of life...
2023: Frontiers in Medicine
https://read.qxmd.com/read/37008909/transition-of-young-adults-with-metabolic-bone-diseases-to-adult-care
#6
REVIEW
Jordan Ross, Michelle R Bowden, Christine Yu, Alicia Diaz-Thomas
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan. With this potential for fulfilling lives as adults comes the need for dedicated transition and intentional care of these patients as adults. Much work has gone into improving the transitions of medically fragile children into adulthood, encompassing endocrinologic conditions like type 1 diabetes mellitus and congenital adrenal hyperplasia...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37082116/glucocorticoid-induced-bone-disorders-in-children-research-progress-in-treatment-mechanisms
#7
REVIEW
Junying Hua, Jianping Huang, Gang Li, Sien Lin, Liao Cui
Long-term or supra-physiological dose of glucocorticoid (GC) application in clinic can lead to impaired bone growth and osteoporosis. The side effects of GC on the skeletal system are particularly serious in growing children, potentially causing growth retardation or even osteoporotic fractures. Children's bone growth is dependent on endochondral ossification of growth plate chondrocytes, and excessive GC can hinder the development of growth plate and longitudinal bone growth. Despite the availability of drugs for treating osteoporosis, they have failed to effectively prevent or treat longitudinal bone growth and development disorders caused by GCs...
2023: Frontiers in Endocrinology
https://read.qxmd.com/read/37249457/hypophosphatasia-from-birth-to-adulthood
#8
REVIEW
Fernanda Salles Reis, Marise Lazaretti-Castro
Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules. Decreased alkaline phosphatase activity leads to the accumulation of three main metabolites, i.e ., pyridoxal 5´-phosphate (PLP), inorganic pyrophosphate (PPi), and phosphoethanolamine. Impairment in PLP dephosphorylation induces seizures, while PPi accumulation inhibits bone mineralization. Clinically, HPP has a wide spectrum of presentations, ranging from neonatal death to an apparent lack of symptoms...
May 25, 2023: Archives of Endocrinology and Metabolism
https://read.qxmd.com/read/37000405/vitamin-d-in-hypoparathyroidism-insight-into-pathophysiology-and-perspectives-in-clinical-practice
#9
REVIEW
Cristiana Cipriani, Luisella Cianferotti
Hypoparathyroidism (HypoPT) is a rare endocrine disorder characterized by the absence or insufficient parathyroid hormone production resulting in chronic hypocalcemia. Complications of HypoPT include perturbation of several target organs. The conventional treatment consists of the administration of active vitamin D, namely calcitriol. Regarding vitamin D status, few data are available, mostly in HypoPT subjects supplemented with parent vitamin D. In addition, perturbation of vitamin D metabolism has been poorly investigated, as well as the contribution of altered vitamin D status on the clinical expression of the disease...
August 2023: Endocrine
https://read.qxmd.com/read/36761497/paracrine-and-endocrine-functions-of-osteocytes
#10
REVIEW
Toshimi Michigami
Osteocytes are dendritic-shaped cells embedded in the bone matrix and are terminally differentiated from osteoblasts. Inaccessibility due to their location has hindered the understanding of the molecular functions of osteocytes. However, scientific advances in the past few decades have revealed that osteocytes play critical roles in bone and mineral metabolism through their paracrine and endocrine functions. Sclerostin produced by osteocytes regulates bone formation and resorption by inhibiting Wnt/β-catenin signaling in osteoblast-lineage cells...
2023: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://read.qxmd.com/read/36161343/high-bone-mass-disorders-new-insights-from-connecting-the-clinic-and-the-bench
#11
REVIEW
Dylan J M Bergen, Antonio Maurizi, Melissa M Formosa, Georgina L K McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria-Luisa Brandi, José A Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L Duncan, Celia L Gregson, Douglas P Kiel, M Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx
Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these disorders. Based on this, we classify the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation, for both wet lab experimental design and clinical genetic screening strategies...
February 2023: Journal of Bone and Mineral Research
https://read.qxmd.com/read/36545331/sclerostin-as-a-biomarker-of-physical-exercise-in-osteoporosis-a-narrative-review
#12
REVIEW
Anna Oniszczuk, Agnieszka Kaczmarek, Mateusz Kaczmarek, Maria Ciałowicz, Ersan Arslan, Ana Filipa Silva, Filipe Manuel Clemente, Eugenia Murawska-Ciałowicz
Osteoporosis, a disease of low bone mass, is characterized by reduced bone mineral density (BMD) through abnormalities in the microarchitecture of bone tissue. It affects both the social and economic areas, therefore it has been considered a lifestyle disease for many years. Bone tissue is a dynamic structure exhibiting sensitivity to various stimuli, including mechanical ones, which are a regulator of tissue sclerostin levels. Sclerostin is a protein involved in bone remodeling, showing an anti-anabolic effect on bone density...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36568096/regulation-of-bone-health-through-physical-exercise-mechanisms-and-types
#13
REVIEW
Xinyu Chang, Sheng Xu, Hao Zhang
Osteoporosis, characterized by bone mineral density reduction, bone mass loss, increased bone fragility, and propensity to fractures, is a common disease in older individuals and one of the most serious health problems worldwide. The imbalance between osteoblasts and osteoclasts results in the predominance of bone resorption and decreased bone formation. In recent years, it has been found that regular and proper exercise not only helps prevent the occurrence of osteoporosis but also adds benefits to osteoporosis therapy; accordingly, bone homeostasis is closely associated with mechanical stress and the intricate crosstalk between osteoblasts and osteoclasts...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36472650/osteoporosis-in-children-and-adolescents-how-to-treat-and-monitor
#14
REVIEW
Silvia Ciancia, Wolfgang Högler, Ralph J B Sakkers, Natasha M Appelman-Dijkstra, Annemieke M Boot, Theo C J Sas, Judith S Renes
UNLABELLED: Osteoporosis is a condition of increased bone fragility associated with fractures. Apart from primary genetic osteoporotic conditions, secondary osteoporosis in children is being increasingly recognized. As a result, there is growing interest in its prevention and treatment. Important goals of care are to prevent fractures, increase bone mass and trabecular and cortical thickness, reshape vertebral fractures, prevent (or correct) skeletal deformities, and improve mobility, independence, and quality of life...
February 2023: European Journal of Pediatrics
https://read.qxmd.com/read/36545737/phosphate-homeostasis-and-disorders-of-phosphate-metabolism
#15
JOURNAL ARTICLE
Nandhini Lakshmana Perumal, Raja Padidela
Phosphate is indispensable for human life and evolutionary changes over several millions of years have established tightly regulated mechanisms to ensure phosphate homeostasis. In this process, calcium and phosphate metabolism have come to be intricately linked together. Three hormones (PTH, FGF23 and Calcitriol) maintain the fine balance of calcium and phosphate metabolism through their actions at three sites (the gut, the kidneys and the skeleton). Disorders that disrupt this balance can have serious clinical consequences...
December 21, 2022: Current Pediatric Reviews
https://read.qxmd.com/read/36497201/osteometabolism-metabolic-alterations-in-bone-pathologies
#16
REVIEW
Rupesh K Srivastava, Leena Sapra, Pradyumna K Mishra
Renewing interest in the study of intermediate metabolism and cellular bioenergetics is brought on by the global increase in the prevalence of metabolic illnesses. Understanding of the mechanisms that integrate energy metabolism in the entire organism has significantly improved with the application of contemporary biochemical tools for quantifying the fuel substrate metabolism with cutting-edge mouse genetic procedures. Several unexpected findings in genetically altered mice have prompted research into the direction of intermediate metabolism of skeletal cells...
December 6, 2022: Cells
https://read.qxmd.com/read/36246903/pth-fgf-23-klotho-and-vitamin-d-as-regulators-of-calcium-and-phosphorus-genetics-epigenetics-and-beyond
#17
REVIEW
Ignacio Portales-Castillo, Petra Simic
The actions of several bone-mineral ion regulators, namely PTH, FGF23, Klotho and 1,25(OH)2 vitamin D (1,25(OH)2 D), control calcium and phosphate metabolism, and each of these molecules has additional biological effects related to cell signaling, metabolism and ultimately survival. Therefore, these factors are tightly regulated at various levels - genetic, epigenetic, protein secretion and cleavage. We review the main determinants of mineral homeostasis including well-established genetic and post-translational regulators and bring attention to the epigenetic mechanisms that affect the function of PTH, FGF23/Klotho and 1,25(OH)2 D...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36246908/osteocytes-and-the-pathogenesis-of-hypophosphatemic-rickets
#18
REVIEW
Miwa Yamazaki, Toshimi Michigami
Since phosphorus is a component of hydroxyapatite, its prolonged deprivation affects bone mineralization. Fibroblast growth factor 23 (FGF23) is essential for maintaining phosphate homeostasis and is mainly produced by osteocytes. FGF23 increases the excretion of inorganic phosphate (Pi) and decreases the production of 1,25-dihydroxyvitamin D in the kidneys. Osteocytes are cells of osteoblastic lineage that have undergone terminal differentiation and become embedded in mineralized bone matrix. Osteocytes express FGF23 and other multiple genes responsible for hereditary hypophosphatemic rickets, which include phosphate-regulating gene homologous to endopeptidase on X chromosome ( PHEX ), dentin matrix protein 1 ( DMP1 ), and family with sequence similarity 20, member C ( FAM20C )...
2022: Frontiers in Endocrinology
https://read.qxmd.com/read/36292765/hereditary-metabolic-bone-diseases-a-review-of-pathogenesis-diagnosis-and-management
#19
REVIEW
Nipith Charoenngam, Aryan Nasr, Arash Shirvani, Michael F Holick
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represent each of the three groups, including sclerosing bone disorders, disorders of defective bone mineralization and disorder of bone matrix and cartilage formation. We also review pathophysiology, manifestation and treatment for each disease...
October 17, 2022: Genes
https://read.qxmd.com/read/36336607/where-is-bone-science-taking-us
#20
REVIEW
Bente L Langdahl, André G Uitterlinden, Stuart H Ralston
Bone science has over the last decades unraveled many important pathways in bone and mineral metabolism and the interplay between genetic factors and the environment. Some of these discoveries have led to the development of pharmacological treatments of osteoporosis and rare bone diseases. Other scientific avenues have uncovered a role for the gut microbiome in regulating bone mass, which have led to investigations on the possible therapeutic role of probiotics in the prevention of osteoporosis. Huge advances have been made in identifying the genes that cause rare bone diseases, which in some cases have led to therapeutic interventions...
November 3, 2022: Best Practice & Research. Clinical Rheumatology
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