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https://www.readbyqxmd.com/read/28339517/omics-studies-their-use-in-diagnosis-and-reclassification-of-sle-and-other-systemic-autoimmune-diseases
#1
Maria Teruel, Chris Chamberlain, Marta E Alarcón-Riquelme
Omics studies of systemic autoimmune diseases (SADs) in general, and SLE in particular, have delivered isolated information from transcriptome, epigenome, genome, cytokine and metabolome analyses. Such analyses have resulted in the identification of disease susceptibility genes and the description of IFN expression signatures, allowing extensive insight into the mechanisms of disease and the development of new therapies. Access to such technologies allows the recognition of patterns of disease at a pathway level, thereby, to reclassify SLE and other SADs and to develop new therapeutics from a personalized perspective...
October 19, 2016: Rheumatology
https://www.readbyqxmd.com/read/28339027/su6668-modulates-prostate-cancer-progression-by-downregulating-mtdh-akt-signaling-pathway
#2
Benjiang Qian, Yi Yao, Changming Liu, Jiabing Zhang, Huihong Chen, Huizhang Li
Prostate cancer is the second leading cause of cancer deaths among men in Western counties and has increased in incidence also in China in recent years. Although diagnosis modalities for primary prostate cancer have markedly improved, there are still no effective therapies for metastatic prostate cancer. SU6668 is an inhibitor of the tyrosine kinase activity of three angiogenic receptors VEGFR2, PDGFRβ and FGFR1. There is strong experimental evidence that SU6668 can induce growth inhibition of various primary tumors...
March 22, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28338457/transplant-renal-vein-thrombosis
#3
Khaled El Zorkany, Julie-Michelle Bridson, Ajay Sharma, Ahmed Halawa
Transplant renal vein thrombosis usually occurs early after surgery with a reported prevalence of 0.1% to 4.2%. It is a devastating event that ultimately leads to graft loss in almost all cases. There are many predisposing factors related to donor, recipient, surgery, and immunosuppression, with mechanical factors being considered the most common causes of transplant renal vein thrombosis. The clinical manifestations of acute renal vein thrombosis are nonspecific and are not dissimilar to the features of urine leak, urinary obstruction, or severe acute rejection...
April 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28337711/circulating-tumor-dna-for-mutation-detection-and-identification-of-mechanisms-of-resistance-in-non-small-cell-lung-cancer
#4
REVIEW
Kay T Yeung, Soham More, Brian Woodward, Victor Velculescu, Hatim Husain
Targeted therapies have changed the treatment landscape of non-small cell lung cancer over the past decade. Analyses of cell free circulating tumor DNA (ctDNA) provide a non-invasive and robust approach for cancer diagnosis and prognosis, real-time monitoring of treatment response, and the identification of appropriate therapeutic targets based on the detection of tumor genetic aberrations. Recent improvements in the sensitivity, specificity, and feasibility of ctDNA detection assays allow the possibility for implementation into clinical practice...
March 24, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28336128/retinal-pigment-epithelium-tears-classification-pathogenesis-predictors-and-management
#5
REVIEW
Mehmet Giray Ersoz, Murat Karacorlu, Serra Arf, Isil Sayman Muslubas, Mumin Hocaoglu
Various eye conditions cause tears in the retinal pigment epithelium (RPE). The most common cause of an RPE tear is vascularized retinal pigment epithelial detachment (PED) in patients with exudative age-related macular degeneration. Although RPE tears can develop spontaneously in vascularized PEDs, most recent cases have been associated with anti-vascular endothelial growth factor (VEGF) injections. The subretinal fluid within the PED applies hydrostatic pressure to the RPE and stretches it. The PED enlarges as the hydrostatic pressure increases...
March 20, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28334876/pdgfrb-gain-of-function-mutations-in-sporadic-infantile-myofibromatosis
#6
Florence A Arts, Raf Sciot, Bénédicte Brichard, Marleen Renard, Audrey de Rocca Serra, Guillaume Dachy, Laura A Noël, Amélie I Velghe, Christine Galant, Maria Debiec-Rychter, An Van Damme, Miikka Vikkula, Raphaël Helaers, Nisha Limaye, Hélène A Poirel, Jean-Baptiste Demoulin
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes including PDGFRB. In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. Mutations in the coding sequence of PDGFRB were identified in 6 out of 8 patients with the sporadic multicentric form of the disease and in 1 out of 8 patients with isolated myofibroma...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332488/parkinson-disease
#7
REVIEW
Werner Poewe, Klaus Seppi, Caroline M Tanner, Glenda M Halliday, Patrik Brundin, Jens Volkmann, Anette-Eleonore Schrag, Anthony E Lang
Parkinson disease is the second-most common neurodegenerative disorder that affects 2-3% of the population ≥65 years of age. Neuronal loss in the substantia nigra, which causes striatal dopamine deficiency, and intracellular inclusions containing aggregates of α-synuclein are the neuropathological hallmarks of Parkinson disease. Multiple other cell types throughout the central and peripheral autonomic nervous system are also involved, probably from early disease onwards. Although clinical diagnosis relies on the presence of bradykinesia and other cardinal motor features, Parkinson disease is associated with many non-motor symptoms that add to overall disability...
March 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28328695/effect-of-biperiden-treatment-in-acute-orofacial-and-extremity-dyskinesia-with-methylphenidate-therapy
#8
Elif Acar Arslan, Erhan Arslan, Anil Kilinç, Özkan Göksu
Methylphenidate is a stimulant drug commonly prescribed to individuals with attention-deficit/hyperactivity disorder. The suggested underlying mechanism of acute dyskinesias is dopaminergic transmission increase. We describe a 9-year-old boy with a diagnosis of attention-deficit/hyperactivity disorder admitted to emergency clinic with primarily orofacial and extremity dyskinesia after administration of a first dose of 18 mg OROS (osmotic [controlled] release oral) methylphenidate (Concerta). OROS methylphenidate was discontinued, and the patient's symptoms resolved within 20 minutes after injection of biperiden by intravenous route (0...
March 21, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28319562/translating-biomarkers-from-research-to-clinical-use-in-pediatric-neurocritical-care-focus-on-traumatic-brain-injury-and-cardiac-arrest
#9
Andrew J Prout, Michael S Wolf, Ericka L Fink
PURPOSE OF REVIEW: Traumatic brain injury (TBI) and cardiac arrest are important causes of morbidity and mortality in children. Improved diagnosis and outcome prognostication using validated biomarkers could allow clinicians to better tailor therapies for optimal efficacy. RECENT FINDINGS: Contemporary investigation has yielded plentiful biomarker candidates of central nervous system (CNS) injury, including macromolecules, genetic, inflammatory, oxidative, and metabolic biomarkers...
March 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28318929/biomarkers-in-diagnosis-and-therapy-of-oral-squamous-cell-carcinoma-a-review-of-the-literature
#10
Sebastian Blatt, Maximilian Krüger, Thomas Ziebart, Keyvan Sagheb, Eik Schiegnitz, Elisabeth Goetze, Bilal Al-Nawas, Andreas Max Pabst
Oral squamous cell carcinoma (OSCC) represents the sixth most common cancer, accounting for 2-4% of all malignancies worldwide. The overall survival rate of less than 60% remains generally poor, with prognosis heavily relying on the TNM staging system. Tumor size as well as the presence and extent of lymph node metastases are widely recognized as the most important predictors. However, the underlying mechanisms that lead to an aggressive phenotype are not yet fully understood. Therefore, possible biomarkers are much in need to predict prognosis, to help individualize therapy approaches, and to overcome possible resistance mechanisms...
February 16, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28314733/genetics-implicate-common-mechanisms-in-autism-and-schizophrenia-synaptic-activity-and-immunity
#11
REVIEW
Xiaoming Liu, Zhengwei Li, Conghai Fan, Dongli Zhang, Jiao Chen
The diagnosis of debilitating psychiatric disorders like autism spectrum disorder (ASD) and schizophrenia (SCHZ) is on the rise. These are severe conditions that lead to social isolation and require lifelong professional care. Improved diagnosis of ASD and SCHZ provides early access to medication and therapy, but the reality is that the mechanisms and the cellular pathology underlying these conditions are mostly unknown at this time. Although both ASD and SCHZ have strong inherited components, genetic risk seems to be distributed in hundreds of variants, each conferring low risk...
March 17, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28306230/the-evidence-based-rationale-for-physical-therapy-treatment-of-children-adolescents-and-adults-diagnosed-with-joint-hypermobility-syndrome-hypermobile-ehlers-danlos-syndrome
#12
Raoul H H Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C Scheper, Leslie Russek, Jane V Simmonds
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28303481/morphea-and-eosinophilic-fasciitis-an-update
#13
REVIEW
Jorre S Mertens, Marieke M B Seyger, Rogier M Thurlings, Timothy R D J Radstake, Elke M G J de Jong
Morphea, also known as localized scleroderma, encompasses a group of idiopathic sclerotic skin diseases. The spectrum ranges from relatively mild phenotypes, which generally cause few problems besides local discomfort and visible disfigurement, to subtypes with severe complications such as joint contractures and limb length discrepancies. Eosinophilic fasciitis (EF, Shulman syndrome) is often regarded as belonging to the severe end of the morphea spectrum. The exact driving mechanisms behind morphea and EF pathogenesis remain to be elucidated...
March 16, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28303379/statin-therapy-improves-survival-in-patients-with-severe-pulmonary-hypertension-a-propensity-score-matching-study
#14
Luise Holzhauser, Ninel Hovnanians, Parham Eshtehardi, M Khalid Mojadidi, Yi Deng, David Goodman-Meza, Pavlos Msaouel, Yi-An Ko, Ronald Zolty
Inflammation is an increasingly recognized hallmark of pulmonary hypertension (PH). Statins have been shown to attenuate key pathologic mechanisms via pleiotropic effects in animal models. However, clinical benefit of statins in patients with PH is unknown and their effect on mortality has not been studied. We performed a retrospective analysis of patients between January 2002 to January 2012, with severe PH (pulmonary artery systolic pressure ≥60 mmHg) and preserved left ventricular function (ejection fraction ≥50%), defined by transthoracic echocardiograms...
March 16, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28302916/advances-in-heart-failure-a-review-of-biomarkers-emerging-pharmacological-therapies-durable-mechanical-support-and-telemonitoring
#15
REVIEW
Yasbanoo Moayedi, Heather J Ross
The purpose of this review is to provide an overview of diagnosis, prognosis and management of heart failure (HF) with reduced ejection fraction (HFrEF). Specifically, this review is divided into three sections. The first section will address biomarkers. The discovery of biomarkers has allowed further understanding of the pathophysiology of HF and provides insight into potential therapeutic targets. This review will focus on novel applications of natriuretic peptides (NPs) in clinical trials. Next, emerging biomarkers of HF, such as ST2, galectin-3 and copeptin, will be discussed...
April 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28299719/the-non-coding-transcriptome-of-prostate-cancer-implications-for-clinical-practice
#16
REVIEW
Irene V Bijnsdorp, Martin E van Royen, Gerald W Verhaegh, Elena S Martens-Uzunova
Prostate cancer (PCa) is the most common type of cancer and the second leading cause of cancer-related death in men. Despite extensive research, the molecular mechanisms underlying PCa initiation and progression remain unclear, and there is increasing need of better biomarkers that can distinguish indolent from aggressive and life-threatening disease. With the advent of advanced genomic technologies in the last decade, it became apparent that the human genome encodes tens of thousands non-protein-coding RNAs (ncRNAs) with yet to be discovered function...
March 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28299191/cytomegalovirus-in-pregnancy-and-the-neonate
#17
REVIEW
Vincent C Emery, Tiziana Lazzarotto
Congenital cytomegalovirus (CMV) remains a leading cause of disability in children. Understanding the pathogenesis of infection from the mother via the placenta to the neonate is crucial if we are to produce new interventions and provide supportive mechanisms to improve the outcome of congenitally infected children. In recent years, some major goals have been achieved, including the diagnosis of primary maternal CMV infection in pregnant women by using the anti-CMV IgG avidity test and the diagnosis and prognosis of foetal CMV infection by using polymerase chain reaction real-time tests to detect and quantify the virus in amniotic fluid...
2017: F1000Research
https://www.readbyqxmd.com/read/28298957/the-intersection-of-pulmonary-hypertension-and-solid-organ-transplantation
#18
Adaani E Frost
Pulmonary hypertension (PH) is a complication and marker of disease severity in many parenchymal lung diseases. It also is a frequent complication of portal hypertension and negatively impacts survival with liver transplant. Pulmonary hypertension is frequently diagnosed in patients with end-stage renal disease who are undergoing dialysis, and it has recently been demonstrated to adversely affect posttransplant outcome in this patient population even though the mechanism of PH is substantially different from that associated with liver disease...
October 2016: Methodist DeBakey Cardiovascular Journal
https://www.readbyqxmd.com/read/28295673/808-nm-light-excited-lanthanide-doped-nanoparticles-rational-design-luminescence-control-and-theranostic-applications
#19
REVIEW
Bei Liu, Chunxia Li, Piaoping Yang, Zhiyao Hou, Jun Lin
808 nm-light-excited lanthanide (Ln(3+) )-doped nanoparticles (LnNPs) hold great promise for a wide range of applications, including bioimaging diagnosis and anticancer therapy. This is due to their unique properties, including their minimized overheating effect, improved penetration depth, relatively high quantum yields, and other common features of LnNPs. In this review, the progress of 808 nm-excited LnNPs is reported, including their i) luminescence mechanism, ii) luminescence enhancement, iii) color tuning, iv) diagnostic and v) therapeutic applications...
March 10, 2017: Advanced Materials
https://www.readbyqxmd.com/read/28292886/optical-probing-of-gastrocnemius-in-patients-with-peripheral-artery-disease-characterizes-myopathic-biochemical-alterations-and-correlates-with-stage-of-disease
#20
Ryan A Becker, Kim Cluff, Nithyanandhi Duraisamy, Hootan Mehraein, Hussam Farhoud, Tracie Collins, George P Casale, Iraklis I Pipinos, Jeyamkondan Subbiah
Peripheral artery disease (PAD) is a condition caused by atherosclerotic blockages in the arteries supplying the lower limbs and is characterized by ischemia of the leg, progressive myopathy, and increased risk of limb loss. The affected leg muscles undergo significant changes of their biochemistry and metabolism including variations in the levels of many key proteins, lipids, and nucleotides. The mechanisms behind these changes are poorly understood. The objective of this study was to correlate the severity of the PAD disease stage and associated hemodynamic limitation (determined by the ankle brachial index, ABI) in the legs of the patients with alterations in the biochemistry of chronically ischemic leg muscle as determined by ATR-Fourier transform infrared micro-spectroscopy...
March 2017: Physiological Reports
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