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Skeletal review

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https://www.readbyqxmd.com/read/28646443/recent-discoveries-in-monogenic-disorders-of-childhood-bone-fragility
#1
REVIEW
Riikka E Mäkitie, Anders J Kämpe, Fulya Taylan, Outi Mäkitie
PURPOSE OF REVIEW: This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. RECENT FINDINGS: Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function...
June 23, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28644392/development-of-bone-targeting-drugs
#2
REVIEW
Molly Stapleton, Kazuki Sawamoto, Carlos J Alméciga-Díaz, William G Mackenzie, Robert W Mason, Tadao Orii, Shunji Tomatsu
The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage region. Targeting drugs to the site of action can not only increase efficacy but also reduce toxicity. Bone-targeting drugs are designed with either of two general targeting moieties, aimed at the entire skeletal system or a specific cell type. Most bone-targeting drugs utilize an affinity to hydroxyapatite, a major component of the bone matrix that includes a high concentration of positively-charged Ca(2+)...
June 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28644302/the-role-of-bone-targeted-therapies-for-prostate-cancer-in-2017
#3
Samer L Traboulsi, Fred Saad
PURPOSE OF REVIEW: Bone-targeted agents (BTAs), such as zoledronic acid and denosumab, delay the occurrence of skeletal-related events (SREs) in metastatic prostate cancer (PCa) patients. Recently, several agents, such as abiraterone acetate, enzalutamide and radium-223, were approved for the treatment of metastatic castration-resistant PCa (mCRPC). These agents resulted in improved overall survival (OS), pain control and had positive effects on bone health. Combining BTAs to the newly approved agents demonstrates additional benefits that warrant a review of available evidence looking at appropriate combination therapies and timing of BTAs for optimizing the management of advanced and metastatic PCa...
July 20, 2017: Current Opinion in Supportive and Palliative Care
https://www.readbyqxmd.com/read/28642853/paget-s-disease-skeletal-manifestations-and-effect-of-bisphosphonates
#4
Ho Kang, Young-Chang Park, Kyu Hyun Yang
BACKGROUND: Paget's disease of bone leads to change in the shape and size of the bone and results in reduced bone strength, leading to the complications of deformity, arthritis, and fracture. Due to unknown reasons, Paget's disease is rare in Asian descendants. We report the cases of Paget's disease who visited our institute for 15 years and reviewed the literatures. METHODS: We retrospectively reviewed the medical records and radiograms of 8 patients (6 female and 2 male) who were diagnosed as Paget's disease of bone...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28642850/transcriptional-network-controlling-endochondral-ossification
#5
REVIEW
Kenji Hata, Yoshifumi Takahata, Tomohiko Murakami, Riko Nishimura
Endochondral ossification is the fundamental process of skeletal development in vertebrates. Chondrocytes undergo sequential steps of differentiation, including mesenchymal condensation, proliferation, hypertrophy, and mineralization. These steps, which are required for the morphological and functional changes in differentiating chondrocytes, are strictly regulated by a complex transcriptional network. Biochemical and mice genetic studies identified chondrogenic transcription factors critical for endochondral ossification...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28642118/current-state-of-the-art-for-cardiac-arrhythmia-gene-therapy
#6
REVIEW
J Kevin Donahue
Cardiac arrhythmias are a leading cause of morbidity and mortality. Currently available therapeutic options lack sufficient efficacy and safety. Gene therapy has been proposed for treatment of cardiac arrhythmias. This review will discuss the current state of development for arrhythmia gene therapy. So far, all published studies are short-term, proof-of-concept animal studies. Potential replacement of cardiac pacemakers has been shown for combination gene therapy using the HCN2 gene and either the gene for adenylate cyclase, the skeletal muscle isoform of the sodium channel, or a dominant negative mutant of the potassium channel responsible for resting membrane potential...
June 19, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28640448/overview-of-the-muscle-cytoskeleton
#7
Christine A Henderson, Christopher G Gomez, Stefanie M Novak, Lei Mi-Mi, Carol C Gregorio
Cardiac and skeletal striated muscles are intricately designed machines responsible for muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the complex cytoskeletal networks are critical for contractile activity. The sarcomere is comprised of precisely organized individual filament systems that include thin (actin), thick (myosin), titin, and nebulin. Connecting the sarcomere to other organelles (e.g., mitochondria and nucleus) and serving as the scaffold to maintain cellular integrity are the intermediate filaments...
June 18, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28640092/glucose-metabolism-of-visceral-adipose-tissue-measured-by-18f-fdg-pet-ct-is-related-to-the-presence-of-colonic-adenoma
#8
Hai-Jeon Yoon, Bom Sahn Kim, Ko Eun Lee, Chang Mo Moon, Jang Yoo, Jung-Sook Kim, Yemi Kim
This study investigated the relationships between the area and metabolic activity of adipose tissue and the presence of colorectal adenoma (CRA). Our institutional review board approved the study and waived informed consent. A total of 212 subjects who underwent fluorine 18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) and colonoscopy for routine health check-ups were enrolled. The volumetric parameters of areas of visceral (VATav), subcutaneous (SATav), and total adipose tissue (TATav) and calculated visceral-to-subcutaneous adipose tissue ratio (VSR) and visceral-to-total adipose tissue ratio (VAR) were considered...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639748/expansion-of-the-phenotype-of-kosaki-overgrowth-syndrome
#9
Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uenara, Kenji Kurosawa, Kenjiro Kosaki, Cynthia J Curry
Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in PDGFRB, that is, c.1751C>G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of PDGFRB causes an overgrowth phenotype and is the first gain-of-function point mutation of PDGFRB to be reported in humans...
June 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28638928/-fat-deposition-in-skeletal-muscle-and-its-regulation
#10
Li-Fang Zheng, Pei-Jie Chen, Yong-Zhan Zhou, Wei-Hua Xiao
Under normal condition, there are a few lipid droplets in skeletal muscle. But in skeletal muscle acute injury, muscular dystrophy, muscle atrophy, obesity, diabetes and other pathological conditions, the fat deposition in skeletal muscle increases, which implicate that the fat deposition may play an important role in the pathogenesis of these diseases. However, the mechanisms of development and regulation of fat deposition in skeletal muscle are not clear. Clarifying the key signaling pathways and regulatory factors that affect fat deposition in skeletal muscle, and exploring new ways to improve the fat deposition in skeletal muscle will not only help to deepen our understanding of the pathogenesis of these diseases, but also provide new ideas for the treatment of these diseases...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#11
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28638414/an-examination-of-the-role-of-transcriptional-and-posttranscriptional-regulation-in-rhabdomyosarcoma
#12
REVIEW
Alexander J Hron, Atsushi Asakura
Rhabdomyosarcoma (RMS) is an aggressive family of soft tissue tumors that most commonly manifests in children. RMS variants express several skeletal muscle markers, suggesting myogenic stem or progenitor cell origin of RMS. In this review, the roles of both recently identified and well-established microRNAs in RMS are discussed and summarized in a succinct, tabulated format. Additionally, the subtypes of RMS are reviewed along with the involvement of basic helix-loop-helix (bHLH) proteins, Pax proteins, and microRNAs in normal and pathologic myogenesis...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28635626/adiponectin-a-therapeutic-target-for-obesity-diabetes-and-endothelial-dysfunction
#13
REVIEW
Arunkumar E Achari, Sushil K Jain
Adiponectin is the most abundant peptide secreted by adipocytes, whose reduction plays a central role in obesity-related diseases, including insulin resistance/type 2 diabetes and cardiovascular disease. In addition to adipocytes, other cell types, such as skeletal and cardiac myocytes and endothelial cells, can also produce this adipocytokine. Adiponectin effects are mediated by adiponectin receptors, which occur as two isoforms (AdipoR1 and AdipoR2). Adiponectin has direct actions in liver, skeletal muscle, and the vasculature...
June 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28634897/the-effect-of-surgical-technique-and-spacer-texture-on-bone-regeneration-a-caprine-study-using-the-masquelet-technique
#14
Viviane Luangphakdy, G Elizabeth Pluhar, Nicolás S Piuzzi, Jean-Claude D'Alleyrand, Cathy S Carlson, Joan E Bechtold, Jonathan Forsberg, George F Muschler
BACKGROUND: The Masquelet-induced-membrane technique is a commonly used method for treating segmental bone defects. However, there are no established clinical standards for management of the induced membrane before grafting. QUESTIONS/PURPOSES: Two clinically based theories were tested in a chronic caprine tibial defect model: (1) a textured spacer that increases the induced-membrane surface area will increase bone regeneration; and (2) surgical scraping to remove a thin tissue layer of the inner induced-membrane surface will enhance bone formation...
June 20, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28634270/making-muscle-skeletal-myogenesis-in-vivo-and-in-vitro
#15
REVIEW
Jérome Chal, Olivier Pourquié
Skeletal muscle is the largest tissue in the body and loss of its function or its regenerative properties results in debilitating musculoskeletal disorders. Understanding the mechanisms that drive skeletal muscle formation will not only help to unravel the molecular basis of skeletal muscle diseases, but also provide a roadmap for recapitulating skeletal myogenesis in vitro from pluripotent stem cells (PSCs). PSCs have become an important tool for probing developmental questions, while differentiated cell types allow the development of novel therapeutic strategies...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28633035/economy-and-endurance-in-human-evolution
#16
REVIEW
Herman Pontzer
The evolutionary pressures shaping humans' unique bipedal locomotion have been a focus of research since Darwin, but the origins of humans' economical walking gait and endurance running capabilities remain unclear. Here, I review the anatomical and physiological determinants of locomotor economy (e.g., limb length and posture) and endurance (e.g., muscle volume and fiber type) and investigate their development in the hominin fossil record. The earliest hominins were bipedal but retained ape-like features in the hind limb that would have limited their walking economy compared to living humans...
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28630021/thyroid-hormone-signaling-and-deiodinase-actions-in-muscle-stem-progenitor-cells
#17
REVIEW
Raffaele Ambrosio, Maria Angela De Stefano, Daniela Di Girolamo, Domenico Salvatore
Thyroid hormone (TH) regulates such crucial biological functions as normal growth, development and metabolism of nearly all vertebrate tissues. In skeletal muscle, TH plays a critical role in regulating the function of satellite cells, the bona fide skeletal muscle stem cells. Deiodinases (D2 and D3) have been found to modulate the expression of various TH target genes in satellite cells. Regulation of the expression and activity of the deiodinases constitutes a cell-autonomous, pre-receptor mechanism that controls crucial steps during the various phases of myogenesis...
June 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28629737/the-obligatory-role-of-activin-a-in-the-formation-of-heterotopic-bone-in-fibrodysplasia-ossificans-progressiva
#18
Dana M Alessi Wolken, Vincent Idone, Sarah J Hatsell, Paul B Yu, Aris N Economides
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that presents at birth with only minor patterning defects, but manifests its debilitating pathology early in life with episodic, yet progressive and cumulative, heterotopic ossification (HO) of ligaments, tendons, and a subset of major skeletal muscles. The resulting HO lesions are endochondral in nature, and appear to be linked to inflammatory stimuli arising in association with known injuries, or from inflammation linked to normal tissue repair...
June 16, 2017: Bone
https://www.readbyqxmd.com/read/28629516/context-dependent-skeletal-effects-of-erythropoietin
#19
Sahar Hiram-Bab, Drorit Neumann, Yankel Gabet
Erythropoietin (Epo) is the main hormone that regulates the production of red blood cells (hematopoiesis), by stimulating their progenitors. Beyond this vital function, several emerging roles have been noted for Epo in other tissues, including neurons, heart, and retina. The skeletal system is also affected by Epo; however, its actions on bone are, as yet, controversial. Here, we review the seemingly contradicting evidence regarding Epo effects on bone remodeling. We also discuss the evidence pointing to a direct vs indirect effect of Epo on the osteoblastic and osteoclastic cell lineages...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#20
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
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