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Skeletal review

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https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#1
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920804/bone-healing-in-2016
#2
REVIEW
John A Buza, Thomas Einhorn
Delayed fracture healing and nonunion occurs in up to 5-10% of all fractures, and can present a challenging clinical scenario for the treating physician. Methods for the enhancement of skeletal repair may benefit patients that are at risk of, or have experienced, delayed healing or nonunion. These methods can be categorized into either physical stimulation therapies or biological therapies. Physical stimulation therapies include electrical stimulation, low-intensity pulsed ultrasonography, or extracorporeal shock wave therapy...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920803/bone-pain-mechanism-in-osteoporosis-a-narrative-review
#3
REVIEW
Consalvo Mattia, Flaminia Coluzzi, Ludovica Celidonio, Renato Vellucci
Bone pain in elderly people dramatically affects their quality of life, with osteoporosis being the leading cause of skeletal related events. Peripheral and central mechanisms are involved in the pathogenesis of the nervous system sensitization. Osteoporosis in the elderly has been associated with increased density of bone sensory nerve fibers and their pathological modifications, together with an over-expression of nociceptors sensitized by the lowering pH due to the osteoclastic activity. The activation of N-methyl-D-aspartate (NMDA) receptors and the microglia, as a response to a range of pathological conditions, represent the leading cause of central sensitization...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920043/a-historical-perspective-on-crush-syndrome-the-clinical-application-of-its-pathogenesis-established-by-the-study-of-wartime-crush-injuries
#4
REVIEW
Dilini Peiris
Crush syndrome is a fine example of how pathology can play a direct role in revealing the best treatment and management for diseases. It can occur when crush injuries are sustained. Skeletal muscle becomes damaged under the weight of a heavy object, and victims experience severe shock and renal failure. The discovery of the pathology of crush syndrome belongs to two individuals: Seigo Minami and Eric Bywaters. They separately helped to define the pathogenesis of crush syndrome during World Wars I and II. Seigo Minami is believed to have been the first to record the pathogenesis of crush syndrome...
December 5, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27919820/tnf-%C3%AE-and-cancer-cachexia-molecular-insights-and-clinical-implications
#5
REVIEW
Hetal J Patel, Bhoomika M Patel
Cancer cachexia characterized by a chronic wasting syndrome, involves skeletal muscle loss and adipose tissue loss and resistance to conventional nutritional support. Cachexia is responsible for the reduction in quality and length of life of cancer patients. It also decreases the muscle strength of the patients. The pro-inflammatory and pro-cachectic factors produced by the tumor cells have important role in genesis of cachexia. A number of pro-inflammatory cytokines, like interleukin-1 (IL-1), IL-6, tumor necrosis factor- alpha (TNF-α) may have important role in the pathological mechanisms of cachexia in cancer...
December 2, 2016: Life Sciences
https://www.readbyqxmd.com/read/27918446/metabolomics-and-its-application-in-the-development-of-discovering-biomarkers-for-osteoporosis-research
#6
REVIEW
Huanhuan Lv, Feng Jiang, Daogang Guan, Cheng Lu, Baosheng Guo, Chileung Chan, Songlin Peng, Baoqin Liu, Wenwei Guo, Hailong Zhu, Xuegong Xu, Aiping Lu, Ge Zhang
Osteoporosis is a progressive skeletal disorder characterized by low bone mass and increased risk of fracture in later life. The incidence and costs associated with treating osteoporosis cause heavy socio-economic burden. Currently, the diagnosis of osteoporosis mainly depends on bone mineral density and bone turnover markers. However, these indexes are not sensitive and accurate enough to reflect the osteoporosis progression. Metabolomics offers the potential for a holistic approach for clinical diagnoses and treatment, as well as understanding of the pathological mechanism of osteoporosis...
December 2, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27916646/roles-of-peroxisome-proliferator-activated-receptor-%C3%AE-%C3%AE-in-skeletal-muscle-physiology
#7
REVIEW
Ravikumar Manickam, Walter Wahli
More than two decades of studying peroxisome proliferator-activated receptors (PPARs) has led to an understanding of their implications in various physiological processes that are key for health and disease. All three PPAR isotypes, PPARα, PPARβ/δ, and PPARγ, are activated by a variety of molecules, including fatty acids, eicosanoids and phospholipids, and regulate a spectrum of genes involved in development, lipid and carbohydrate metabolism, inflammation, and proliferation and differentiation of many cell types in different tissues...
December 1, 2016: Biochimie
https://www.readbyqxmd.com/read/27916644/targeted-mitochondrial-uncoupling-beyond-ucp1-the-fine-line-between-death-and-metabolic-health
#8
REVIEW
Mario Ost, Susanne Keipert, Susanne Klaus
In the early 1930s, the chemical uncoupling agent 2,4-dinitrophenol (DNP) was promoted for the very first time as a powerful and effective weight loss pill but quickly withdrawn from the market due to its lack of tissue-selectivity with resulting dangerous side effects, including hyperthermia and death. Today, novel mitochondria- or tissue-targeted chemical uncouplers with higher safety and therapeutic values are under investigation in order to tackle obesity, diabetes and fatty liver disease. Moreover, in the past 20 years, transgenic mouse models were generated to understand the molecular and metabolic consequences of targeted uncoupling, expressing functional uncoupling protein 1 (UCP1) ectopically in white adipose tissue or skeletal muscle...
December 1, 2016: Biochimie
https://www.readbyqxmd.com/read/27913612/mechanisms-in-endocrinology-skeletal-muscle-lipotoxicity-in-insulin-resistance-and-type-2-diabetes-a-causal-mechanism-or-an-innocent-bystander
#9
REVIEW
Charlotte Brøns, Louise Groth Grunnet
Dysfunctional adipose tissue is associated with an increased risk of developing type 2 diabetes (T2D). One characteristic of a dysfunctional adipose tissue is the reduced expandability of the subcutaneous adipose tissue leading to ectopic storage of fat in organs and/or tissues involved in the pathogenesis of T2D that can cause lipotoxicity. Accumulation of lipids in the skeletal muscle is associated with insulin resistance, but the majority of previous studies do not prove any causality. Most studies agree that it is not the intramuscular lipids per se that causes insulin resistance, but rather lipid intermediates such as diacylglycerols, fatty acyl-CoAs and ceramides and that it is the localization, composition and turnover of these intermediates that play an important role in the development of insulin resistance and T2D...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#10
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27911334/matrix-metalloproteinases-and-tissue-inhibitor-of-metalloproteinases-in%C3%A2-inflammation-and-fibrosis-of-skeletal-muscles
#11
Hala S Alameddine, Jennifer E Morgan
In skeletal muscles, levels and activity of Matrix MetalloProteinases (MMPs) and Tissue Inhibitors of MetalloProteinases (TIMPs) have been involved in myoblast migration, fusion and various physiological and pathological remodeling situations including neuromuscular diseases. This has opened perspectives for the use of MMPs' overexpression to improve the efficiency of cell therapy in muscular dystrophies and resolve fibrosis. Alternatively, inhibition of individual MMPs in animal models of muscular dystrophies has provided evidence of beneficial, dual or adverse effects on muscle morphology or function...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27906069/the-beneficial-role-of-proteolysis-in-skeletal-muscle-growth-and-stress-adaptation
#12
REVIEW
Ryan A V Bell, Mohammad Al-Khalaf, Lynn A Megeney
Muscle atrophy derived from excessive proteolysis is a hallmark of numerous disease conditions. Accordingly, the negative consequences of skeletal muscle protein breakdown often overshadow the critical nature of proteolytic systems in maintaining normal cellular function. Here, we discuss the major cellular proteolysis machinery-the ubiquitin/proteosome system, the autophagy/lysosomal system, and caspase-mediated protein cleavage-and the critical role of these protein machines in establishing and preserving muscle health...
April 6, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27905071/imaging-of-patellar-fractures
#13
REVIEW
Mohamed Jarraya, Luis E Diaz, William F Arndt, Frank W Roemer, Ali Guermazi
Patellar fractures account for approximately 1% of all skeletal fractures and may result from direct, indirect, or combined trauma. Because of the importance of patellar integrity for knee extension and the risk of associated injury to the extensor mechanism, accurate reporting and description of fracture type is paramount for appropriate management. This pictorial essay aims to review the normal anatomy of the patella, the mechanisms of injury and different types of patellar fractures, with a brief introduction to therapeutic management...
November 30, 2016: Insights Into Imaging
https://www.readbyqxmd.com/read/27904930/micrornas-in-bone-diseases
#14
REVIEW
L Gennari, S Bianciardi, D Merlotti
MicroRNAs are small, noncoding single-stranded RNAs that have emerged as important posttranscriptional regulators of gene expression, with an essential role in vertebrate development and different biological processes. This review highlights the recent advances in the function of miRNAs and their roles in bone remodeling and bone diseases. MicroRNAs (miRNAs) are a class of small (∼22 nt), noncoding single-stranded RNAs that have emerged as important posttranscriptional regulators of gene expression. They are essential for vertebrate development and play critical roles in different biological processes related to cell differentiation, activity, metabolism, and apoptosis...
November 30, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/27904917/evaluating-skeletal-dysplasias-on-prenatal-ultrasound-an-emphasis-on-predicting-lethality
#15
REVIEW
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis...
December 1, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27904621/the-association-between-vitamin-d-and-health-outcomes-in-women-a-review-on-the-related-evidence
#16
REVIEW
Nahid Ramezani Jolfaie, Mohammad Hossein Rouhani, Shokouh Onvani, Leila Azadbakht
BACKGROUND: Vitamin D has a wide range of physiological functions in skeletal and nonskeletal tissues which may play a role in many diseases. The aim of this study was to evaluate the recent evidence regarding the effects of Vitamin D on several health outcomes in women including breast cancer, ovarian and endometrial cancers, hypertension, and osteoporosis. MATERIALS AND METHODS: We searched PubMed and Google Scholar databases through March 2016. We included the most current systematic reviews and meta-analyses assessing the associations of Vitamin D intake and/or serum 25-hydroxyvitamin D (25(OH)D) levels with the risk of incidence of breast cancer, ovarian and endometrial cancers, hypertension, and osteoporosis...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27902637/bilateral-congenital-torticollis-a-case-report-with-25-years-of-follow-up
#17
Lukasz Matuszewski, Damian Pietrzyk, Grzegorz Kandzierski, Michal Wilczynski
Unilateral congenital sternocleidomastoid muscle (SCM) contracture causing torticollis is well known. Although the unilateral muscular torticollis is quite often recognized, a bilateral contracture of SCM muscle is very rare. A review of the literature showed only three cases of bilateral congenital torticollis reported over the last two decades. We present a case report of a boy with congenital bilateral torticollis with 25 years of follow-up. Bilateral tenotomies of the right SCM were performed and the child was immobilized in Schanz's cervical orthosis...
November 29, 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27901270/adipose-tissue-inflammation-by-intermittent-hypoxia-mechanistic-link-between-obstructive-sleep-apnoea-and-metabolic-dysfunction
#18
Silke Ryan
Obstructive sleep apnoea (OSA) is a highly prevalent condition and recognized as a major public health burden conveying a significant risk of cardiometabolic diseases and mortality. Type 2 diabetes (T2D), insulin resistance (IR) and glucose tolerance are common in subjects with OSA and this association is at least in part independent of the effects of obesity. Continuous positive airway pressure (CPAP) is the treatment of choice for the majority of patients with OSA but the benefit of CPAP on glycaemic health is uncertain...
November 29, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27900520/nuclear-medicine-imaging-of-multiple-myeloma-particularly-in-the-relapsed-setting
#19
REVIEW
Esther G M de Waal, Andor W J M Glaudemans, Carolien P Schröder, Edo Vellenga, Riemer H J A Slart
Multiple myeloma (MM) is characterized by a monoclonal plasma cell population in the bone marrow. Lytic lesions occur in up to 90 % of patients. For many years, whole-body X-ray (WBX) was the method of choice for detecting skeleton abnormalities. However, the value of WBX in relapsing disease is limited because lesions persist post-treatment, which restricts the capacity to distinguish between old, inactive skeletal lesions and new, active ones. Therefore, alternative techniques are necessary to visualize disease activity...
November 29, 2016: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27899370/benign-reactive-lymphoid-hyperplasia-of-the-conjunctiva-in-childhood
#20
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
November 29, 2016: British Journal of Ophthalmology
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