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https://www.readbyqxmd.com/read/27926493/developmental-therapeutics-for-inflammatory-breast-cancer-biology-and-translational-directions
#1
REVIEW
Ricardo Costa, Cesar A Santa-Maria, Giovanna Rossi, Benedito A Carneiro, Young Kwang Chae, William J Gradishar, Francis J Giles, Massimo Cristofanilli
Inflammatory breast cancer (IBC) is a rare and aggressive form of breast cancer, which accounts for approximately 3% of cases of breast malignancies. Diagnosis relies largely on its clinical presentation, and despite a characteristic phenotype, underlying molecular mechanisms are poorly understood. Unique clinical presentation indicates that IBC is a distinct clinical and biological entity when compared to non-IBC. Biological understanding of non-IBC has been extrapolated into IBC and targeted therapies for HER2 positive (HER2+) and hormonal receptor positive non-IBC led to improved patient outcomes in the recent years...
December 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27924679/effect-of-vitamin-d-supplementation-as-adjunctive-therapy-to-methylphenidate-on-adhd-symptoms-a-randomized-double-blind-placebo-controlled-trial
#2
Nakisa Mohammadpour, Shima Jazayeri, Mehdi Tehrani-Doost, Mahmoud Djalali, Mostafa Hosseini, Mohammad Effatpanah, Rozita Davari-Ashtiani, Elham Karami
OBJECTIVES: Previous studies have shown that serum levels of vitamin D were lower in attention deficit hyperactivity disorder (ADHD) children compared to healthy controls. The aim of the study was to determine the effect of vitamin D supplementation as adjunctive therapy to methylphenidate on symptoms of children with ADHD. METHODS: Sixty-two children aged 5-12 years with a diagnosis of ADHD based on DSM-IV criteria were randomly assigned into two groups to receive either 2000IU vitamin D or placebo in addition to methylphenidate for 8 weeks...
December 7, 2016: Nutritional Neuroscience
https://www.readbyqxmd.com/read/27924646/influence-of-anti-tnf-immunogenicity-on-safety-in-rheumatic-disease-a-narrative-review
#3
Andrea Matucci, Daniele Cammelli, Fabrizio Cantini, Delia Goletti, Valentina Marino, Giuseppe Maria Milano, Raffaele Scarpa, Giuliano Tocci, Enrico Maggi, Alessandra Vultaggio
Tumor necrosis factor-alpha (TNF-α) antagonists have been shown to be effective in the treatment of chronic inflammatory rheumatic conditions. The use of anti-TNF agents, combined with improved diagnosis, aggressive regimens and regular monitoring, have substantially improved patient outcomes. However, all biological agents are immunogenic, resulting in the formation of anti-drug antibodies (ADAs), which can neutralize drug activity leading to loss of response and potential relapse. In addition, ADAs can also cause serious adverse events such as infusion hypersensitivity reactions...
December 2016: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/27922503/myasthenia-gravis-and-lambert-eaton-myasthenic-syndrome
#4
Michael W Nicolle
PURPOSE OF REVIEW: This article discusses the pathogenesis, diagnosis, and management of autoimmune myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). RECENT FINDINGS: Recognition of new antigenic targets and improved diagnostic methods promise to improve the diagnosis of MG, although the clinical phenotypes associated with newer antibodies have not yet been defined. Future therapies might specifically target the aberrant immune response. The apparent increase in the prevalence of MG is not fully explained...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#5
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/27917343/a-new-bioinformatic-insight-into-the-associated-proteins-in-psychiatric-disorders
#6
Wenlong Zhao, Wenjing Yang, Shuanglin Zheng, Qiong Hu, Ping Qiu, Xinghua Huang, Xiaoqian Hong, Fenghua Lan
BACKGROUND: Psychiatric diseases severely affect the quality of patients' lives and bring huge economic pressure to their families. Also, the great phenotypic variability among these patients makes it difficult to investigate the pathogenesis. Nowadays, bioinformatics is hopeful to be used as an effective tool for the diagnosis of psychiatric disorders, which can identify sensitive biomarkers and explore associated signaling pathways. METHODS: In this study, we performed an integrated bioinformatic analysis on 1945 mental-associated proteins including 91 secreted proteins and 593 membrane proteins, which were screened from the Universal Protein Resource (Uniport) database...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27917104/thirty-eight-year-follow-up-of-two-sibling-lipoid-congenital-adrenal-hyperplasia-patients-due-to-homozygous-steroidogenic-acute-regulatory-stard1-protein-mutation-molecular-structure-and-modeling-of-the-stard1-l275p-mutation
#7
Khalil Khoury, Elie Barbar, Youssef Ainmelk, Annie Ouellet, Pierre Lavigne, Jean-Guy LeHoux
Objective: Review the impact of StAR (STARD1) mutations on steroidogenesis and fertility in LCAH patients. Examine the endocrine mechanisms underlying the pathology of the disorder and the appropriate therapy for promoting fertility and pregnancies. Design: Published data in the literature and a detailed 38-year follow-up of two sibling LCAH patients. Molecular structure and modeling of the STARD1 L275P mutation. Setting: University hospital. Patients: Patient A (46,XY female phenotype) and patient B (46,XX female) with LCAH bearing the L275P mutation in STARD1...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27916803/advances-in-lipidomics-for-cancer-biomarkers-discovery
#8
REVIEW
Francesca Perrotti, Consuelo Rosa, Ilaria Cicalini, Paolo Sacchetta, Piero Del Boccio, Domenico Genovesi, Damiana Pieragostino
Lipids play critical functions in cellular survival, proliferation, interaction and death, since they are involved in chemical-energy storage, cellular signaling, cell membranes, and cell-cell interactions. These cellular processes are strongly related to carcinogenesis pathways, particularly to transformation, progression, and metastasis, suggesting the bioactive lipids are mediators of a number of oncogenic processes. The current review gives a synopsis of a lipidomic approach in tumor characterization; we provide an overview on potential lipid biomarkers in the oncology field and on the principal lipidomic methodologies applied...
November 28, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27916780/mir-15a-5p-regulates-viability-and-matrix-degradation-of-human-osteoarthritis-chondrocytes-via-targeting-vegfa
#9
Hongwei Chen, Yun Tian
Previous studies demonstrated that miR-15a-5p was probably associated with human hepatocellular carcinoma, while the function of miR-15a-5p in OA (Osteoarthritis) still remains unknown. Here, we uncovered the potential role of miR-15a-5p on OA pathogenesis and confirmed its predicted target VEGFA (Vascular Endothelial Growth Factor A). Measured by RT-PCR, miR-15a-5p expression increased remarkably while VEGFA expression was significantly decreased in OA chondrocytes compared with normal conditions. According to Luciferase activity assay, miR-15a-5p directly targeted the 3'-UTR of VEGFA to inhibit its expression...
December 3, 2016: Bioscience Trends
https://www.readbyqxmd.com/read/27916286/relating-therapy-for-distressing-auditory-hallucinations-a-pilot-randomized-controlled-trial
#10
Mark Hayward, Anna-Marie Jones, Leanne Bogen-Johnston, Neil Thomas, Clara Strauss
Auditory hallucinations (AH) are a common and distressing experience and patients report distress reduction to be a priority. Relating Therapy adopts a symptom-specific and mechanism focused approach to the reduction of AH distress. We conducted this single-blind, pragmatic, parallel groups, superiority pilot RCT within a single mental health centre in the UK. Patients (18+years) with persistent and distressing AH, irrespective of diagnosis were randomly allocated to receive either Relating Therapy and Treatment-as-usual (RT) or Treatment as-usual alone (TAU)...
December 1, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27915983/recognition-mechanisms-and-applications-of-peptide-nucleic-acids-targeting-double-stranded-dna
#11
Wenjia Li, Huanhuan Shi, Bo Dong, Kaixuan Nie, Zhengchun Liu, Nongyue He
Targeting double-stranded DNA (dsDNA) with high affinity and specificity has become a hot topic in biochemistry and molecular biology research. Gene diagnosis and therapy, DNA manipulation, and gene expression regulation could be achieved based on certain recognition principles through specific interactions between dsDNA and natural nucleotides or synthesized ligands. Some ligands (e.g., peptide nucleic acids (PNAs), triple helix-forming oligonucleotides (TFOs), oligopolyamides, and zinc-finger peptides) show sufficient affinity and specificity for targeting dsDNA sequences...
October 28, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27914152/pediatric-multiple-sclerosis-in-portugal-a-multicentre-study
#12
Ana Sofia Correia, Luís Augusto, Joana Meireles, Joana Pinto, Ana Paula Sousa
INTRODUCTION: Multiple sclerosis is most often diagnosed among young adults but less frequently it may present during childhood or adolescence. In Portugal, there has been only one previous single-center, pediatric multiple sclerosis study. The main objective was the evaluation of the demographic, clinical, laboratorial and neuroradiological characteristics of patients with pediatric-onset multiple sclerosis in Portugal. The secondary objectives were to compare the characteristics of childhood-onset multiple sclerosis and adolescent-onset multiple sclerosis and to characterize the treatments prescribed...
August 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/27913521/sequencing-of-nontransplant-treatments-in-multiple-myeloma-patients-with-active-disease
#13
Andrew J Yee, Noopur S Raje
The approval of several different classes of drugs in recent years has resulted in a dramatic expansion of treatment options for multiple myeloma patients, improving both survival and quality of life. Lenalidomide and bortezomib are now core components of treatment both at time of diagnosis and at relapse. Next-generation immunomodulatory drugs, like pomalidomide, and newer proteasome inhibitors like carfilzomib and ixazomib are available for use at relapse. Drugs with novel mechanisms of action such as the histone deacetylase inhibitor panobinostat and the monoclonal antibodies targeting SLAMF7 (elotuzumab) and CD38 (daratumumab) are significant steps forward...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913502/mrd-in-aml-does-it-already-guide-therapy-decision-making
#14
Gert Ossenkoppele, Gerrit Jan Schuurhuis
Prognostic factors determined at diagnosis are predictive for outcome whereas achievement of morphological complete remission (CR) is still an important end point during treatment. Residual disease after therapy may reflect the sum of all diagnosis and postdiagnosis resistance mechanisms/factors; its measurement could hypothetically be very instrumental for guiding treatment. The possibility of defining residual disease (minimal residual disease [MRD]) far below the level of 5% blast cells is changing the landscape of risk classification...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913490/heparin-induced-thrombocytopenia-research-and-clinical-updates
#15
Oluwatoyosi Onwuemene, Gowthami M Arepally
Heparin-induced thrombocytopenia (HIT) remains an important diagnosis to consider in hospitalized patients developing thrombocytopenia. HIT is an immune-mediated prothrombotic disorder caused by antibodies to platelet factor 4 (PF4) and heparin. Recent basic scientific studies have advanced our understanding of disease pathogenesis through studies of the PF4/heparin structure, immune mechanisms, and cellular basis of thrombosis. Clinical advances have also occurred in areas of HIT prevention, description of disease variants, and diagnostic strategies...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913465/aplastic-anemia-and-clonal-evolution-germ-line-and-somatic-genetics
#16
Akiko Shimamura
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#17
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27907966/getting-rid-of-weakness-in-the-icu-an-updated-approach-to-the-acute-management-of-myasthenia-gravis-and-guillain-barr%C3%A3-syndrome
#18
Alexis A Lizarraga, Karlo J Lizarraga, Michael Benatar
After prompt diagnosis, severe myasthenia gravis and Guillain-Barré syndrome (GBS) usually require management in the intensive care unit. In the myasthenic patient, recognition of precipitating factors is paramount, and frequent monitoring of bulbar, upper airway, and/or respiratory muscle strength is needed to identify impending myasthenic crisis. Noninvasive ventilation can be attempted prior to intubation and mechanical ventilation in the setting of respiratory failure. Cholinesterase inhibitors should be discontinued, but resumed prior to extubation, and steroid dosage could be increased once the airway is secured...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27906709/looking-closer-at-acute-respiratory-distress-syndrome-the-role-of-advanced-imaging-techniques
#19
Giacomo Bellani, Jean-Jaques Rouby, Jean-Michel Constantin, Antonio Pesenti
PURPOSE OF REVIEW: Advanced imaging techniques have provided invaluable insights in understanding of acute respiratory distress syndrome (ARDS) and the effect of therapeutic strategies, thanks to the possibility of gaining regional information and moving from simple 'anatomical' information to in-vivo functional imaging. RECENT FINDINGS: Computed tomography (CT) led to the understanding of several ARDS mechanisms and interaction with mechanical ventilation. It is nowadays frequently part of routine diagnostic workup, often leading to treatment changes...
November 30, 2016: Current Opinion in Critical Care
https://www.readbyqxmd.com/read/27905186/severe-asthma-current-management-targeted-therapies-and-future-directions-a-roundtable-report
#20
REVIEW
Vanessa M McDonald, Steven Maltby, Helen K Reddel, Gregory G King, Peter A B Wark, Lorraine Smith, John W Upham, Alan L James, Guy B Marks, Peter G Gibson
Asthma is a chronic respiratory disease characterized by respiratory symptoms, airway inflammation, airway obstruction and airway hyper-responsiveness. Asthma is common and directly affects 10% of Australians, 1-5% of adults in Asia and 300 million people worldwide. It is a heterogeneous disorder with many clinical, molecular, biological and pathophysiological phenotypes. Current management strategies successfully treat the majority of patients with asthma who have access to them. However, there is a subset of an estimated 5-10% of patients with asthma who have severe disease and are disproportionately impacted by symptoms, exacerbations and overall illness burden...
November 30, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
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