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https://www.readbyqxmd.com/read/29345602/the-mental-health-of-adolescents-and-pre-adolescents-living-with-inherited-arrhythmia-syndromes-a-systematic-review-of-the-literature
#1
Patricia E Longmuir, Margaret Sampson, Jennifer Ham, Makenzie Weekes, Bhavika J Patel, Robert M Gow
Potentially fatal arrhythmias add to the mental health challenges of adolescence. This systematic review sought to summarise current knowledge regarding the mental health of adolescents and pre-adolescents diagnosed with inherited arrhythmia syndromes. Searches combining psychological problems with inherited cardiac arrhythmia diagnoses identified 16 studies with paediatric (<18 years) inherited arrhythmia patients. All studies were cross-sectional; 8/16 required an implantable cardioverter defibrillator...
January 18, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29345587/is-there-a-role-for-oral-triple-therapy-in-patients-with-acute-coronary-syndromes-without-atrial-fibrillation
#2
Nikolaos Spinthakis, Mohamed Farag, Zaki Akhtar, Diana Adrienne Gorog
BACKGROUND: Acute coronary syndrome (ACS) patients, despite treatment with dual antiplatelet therapy (DAPT), have up to 10% risk of recurrent major adverse cardiac events (MACE) in the short term. METHODS: Here we review studies using more potent antithrombotic agent combinations to reduce this risk, namely triple therapy (TT) with the addition of an oral anticoagulant, PAR-1 antagonist, or cilostazol to DAPT (mainly aspirin and clopidogrel), and discuss the limitations of trials to date...
January 16, 2018: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/29345059/microrna-networks-associated-with-active-systemic-juvenile-idiopathic-arthritis-regulate-cd163-expression-and-anti-inflammatory-functions-in-macrophages-through-two-distinct-mechanisms
#3
Thuy Do, Rachel Tan, Mark Bennett, Mario Medvedovic, Alexei A Grom, Nan Shen, Sherry Thornton, Grant S Schulert
Systemic juvenile idiopathic arthritis (SJIA) is a severe childhood arthropathy with features of autoinflammation. Monocytes and macrophages in SJIA have a complex phenotype with both pro- and anti-inflammatory properties that combine features of several well characterized in vitro conditions used to activate macrophages. An important anti-inflammatory phenotype is expression of CD163, a scavenger receptor that sequesters toxic pro-inflammatory complexes that is highly expressed in both active SJIA and macrophage activation syndrome (MAS)...
January 2018: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29344583/heterozygous-rtel1-variants-in-bone-marrow-failure-and-myeloid-neoplasms
#4
Judith C W Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria Del Pilar F Ibanez, Flávia S Donaires, João P Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G Kulasekararaj, Donal P McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S Young, Rodrigo T Calado, Danielle M Townsley, Ghulam J Mufti
Biallelic germline mutations in RTEL1 (regulator of telomere elongation helicase 1) result in pathologic telomere erosion and cause dyskeratosis congenita. However, the role of RTEL1 mutations in other bone marrow failure (BMF) syndromes and myeloid neoplasms, and the contribution of monoallelic RTEL1 mutations to disease development are not well defined. We screened 516 patients for germline mutations in telomere-associated genes by next-generation sequencing in 2 independent cohorts; one constituting unselected patients with idiopathic BMF, unexplained cytopenia, or myeloid neoplasms (n = 457) and a second cohort comprising selected patients on the basis of the suspicion of constitutional/familial BMF (n = 59)...
January 9, 2018: Blood Advances
https://www.readbyqxmd.com/read/29343984/appropriateness-of-sham-or-placebo-acupuncture-for-randomized-controlled-trials-of-acupuncture-for-nonspecific-low-back-pain-a-systematic-review-and-meta-analysis
#5
Yan Xiang, Jinyuan He, Rui Li
Objectives: To establish whether sham acupuncture (SA) or placebo acupuncture (PA) is more efficacious for reducing low back pain (LBP) than other routine treatments and to discuss whether SA or PA is appropriate for randomized controlled trials of acupuncture for LBP. Methods: Six databases were searched on 31 May 2017. We included only randomized controlled trials of adults with LBP and lower back myofascial pain syndrome. The studies had at least two control arms: a sham-controlled acupuncture arm and a routine care or waiting list arm (people who did not receive acupuncture until the end of treatment)...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29343965/postural-tachycardia-syndrome-current-perspectives
#6
REVIEW
Rachel Wells, Andrew J Spurrier, Dominik Linz, Celine Gallagher, Rajiv Mahajan, Prashanthan Sanders, Amanda Page, Dennis H Lau
Postural tachycardia syndrome (POTS) is the combination of an exaggerated heart rate response to standing, in association with symptoms of lightheadedness or pre-syncope that improve when recumbent. The condition is often associated with fatigue and brain fog, resulting in significant disruptions at a critical time of diagnosis in adolescence and young adulthood. The heterogeneity of the underlying pathophysiology and the variable response to therapeutic interventions make management of this condition challenging for both patients and physicians alike...
2018: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/29343809/interaction-of-smoking-and-metabolic-syndrome-in-increasing-the-recurrence-risk-of-colorectal-cancer-in-a-chinese-male-cohort-a-retrospective-study
#7
Da-Zhi Chen, Fei-Yang Ji, Qiao-Mai Xu, Xiao-Xin Wu, Chao Cai, Ling-Jian Zhang, Lan-Juan Li
Whether smoking and metabolic syndrome (MetS) can affect colorectal carcinoma (CRC) prognosis remains debatable. Therefore, the present study aimed to examine the individual and combined effects of smoking and MetS on the prognosis of patients with localized CRC, including stage I to III disease. The relationship among smoking status, MetS, and CRC was assessed in 838 Chinese male patients. Cox proportional hazards regression analysis was used to evaluate CRC prognosis adjusted for clinicopathological variables...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#8
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 14, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29343284/extensive-armc5-genetic-variance-in-primary-bilateral-macronodular-adrenal-hyperplasia-that-started-with-exophthalmos-a-case-report
#9
Ping Jin, Muhammad Usman Janjua, Qin Zhang, Chang-Sheng Dong, Youbo Yang, Zhao-Hui Mo
BACKGROUND: Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome characterized by the presence of bilateral secretory adrenal nodules. Recent studies have shown that primary bilateral macronodular adrenal hyperplasia is caused by combined germline and somatic mutations of the ARMC5 gene. Exophthalmos is an underappreciated sign of Cushing's syndrome. CASE PRESENTATION: A 52-year-old Chinese woman with progressively worsening bilateral proptosis presented to our hospital...
January 18, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29343165/hiv-and-renal-disease-a-contemporary-review
#10
Joana Gameiro, Sofia Jorge, José A Lopes
The presence of human immunodeficiency virus (HIV)-related kidney disease is an important cause of mortality and morbidity. HIV infection induces renal injury by direct cytotoxicity or immune complex-mediated glomerulonephritis in patients with genetic susceptibility factors. In the last decades, with the development and diffusion of combination antiretroviral therapy, which has prolonged patient survival, there has been a shift in the spectrum of renal diseases in HIV-infected patients, with the decrease of glomerular diseases and increase in the role of nephrotoxicity and co-morbidities...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29342292/clinical-utility-of-the-global-anti-phospholipid-syndrome-score-for-risk-stratification-a-pooled-analysis
#11
Savino Sciascia, Massimo Radin, Giovanni Sanna, Irene Cecchi, Dario Roccatello, Maria Laura Bertolaccini
Objective: Recently, our group conceived a risk score for clinical manifestations of APS (the global APS score, or GAPSS) that takes into account the combination of independent cardiovascular risk factors and the aPL positivity profile. These include hyperlipidaemia, arterial hypertension, aCL, anti-β2 glycoprotein-I, aPS-PT and the LA. A complementary version, the adjusted GAPSS (aGAPSS), which excludes aPS-PT, was also designed. The aim of our study was to systematically review the literature to assess the clinical utility of the GAPSS and aGAPSS for risk stratification of any APS clinical manifestation...
January 12, 2018: Rheumatology
https://www.readbyqxmd.com/read/29341941/cauda-equina-syndrome-due-to-lumbar-disc-herniation-a-review-of-literature
#12
Stylianos Kapetanakis, Constantinos Chaniotakis, Constantinos Kazakos, Jannis V Papathanasiou
Cauda equina syndrome (CES) is a rare neurologic condition that is caused by compression of the cauda equina. Cauda equina consists of spinal nerves L2-L5, S1-S5 and the coccygeal nerve. The compression of these nerve roots can be caused mainly by lumbar disc herniation (45% of all causes). The diagnosis consists of two critical points: a) detailed history and physical examination and b) MRI or CT. The gold standard of the treatment of this syndrome is the surgical approach in combination with the timing of onset of symptoms...
December 20, 2017: Folia Medica
https://www.readbyqxmd.com/read/29341805/a-case-study-approach-combined-with-modified-team-based-learning-to-teach-the-progression-of-metabolic-syndrome-to-type-2-diabetes
#13
Chaya Gopalan, William Kist
No abstract text is available yet for this article.
March 1, 2018: Advances in Physiology Education
https://www.readbyqxmd.com/read/29341296/the-five-year-survival-of-children-with-down-syndrome-in-norway-1994-2009-differed-by-associated-congenital-heart-defects-and-extracardiac-malformations
#14
Kristoffer Brodwall, Gottfried Greve, Elisabeth Leirgul, Kari Klungsøyr, Henrik Holmstrøm, Stein Emil Vollset, Nina Øyen
AIM: We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects, their associations with extracardiac malformations, and survival. METHODS: National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between heart defects and extracardiac malformations and hazard ratios for death from different combinations of heart defects and extracardiac malformations...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29340926/gastrointestinal-histoplasmosis-ileal-stricture-successfully-treated-with-through-the-scope-balloon-dilation-in-a-patient-with-hyperimmunoglobulin-m-syndrome
#15
Fredy Nehme, Kyle Rowe, Mohamad El Hawari, Maha Assi, Imad Nassif
Gastrointestinal histoplasmosis is common in patients with disseminated disease affecting both immunocompetent and immunocompromised patients. However, it is often unrecognized due to a lack of specific signs and symptoms. It has only rarely been reported to cause small bowel obstruction, during which surgical treatment was nearly always necessary. Little is known about the usefulness of endoscopic therapy in gastrointestinal histoplasmosis associated strictures. We report the case of a 32-year-old man with a history of hyperimmunoglobulin M syndrome who presented with small bowel obstruction secondary to disseminated gastrointestinal histoplasmosis...
January 16, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29340741/-platelet-inhibition-in-patients-with-coronary-cerebral-and-peripheral-macroangiopathy-what-when-and-how-long
#16
REVIEW
M Halbach, S Baldus
BACKGROUND: Inhibition of platelet aggregation can reduce the rate of vascular events in patients with coronary artery disease, carotid artery stenosis and symptomatic peripheral arterial disease. The choice of platelet inhibitors in monotherapy and combination therapy as well as the duration of dual platelet inhibition depend on the clinical situation and individual patient characteristics. GOAL: The present review summarizes the latest data from clinical trials and recommendations regarding platelet inhibition in coronary, cerebral and peripheral arterial disease...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340015/apatinib-alone-or-combined-with-radiotherapy-in-metastatic-prostate-cancer-results-from-a-pilot-multicenter-study
#17
Feng Zhao, Wei Tian, Ming Zeng, Jianling Xia, Honglin Hu, Xinbao Hao, Liangfu Han, Hao Liu, Yangke He, Xueqiang Zhu, Liang Liang, Rui Ao, Min Wei, Lili Deng, Yuquan Wei
Background: To study safety and efficacy of apatinib in combination of radiotherapy in patients with symptomatic bony disease prostate cancer(SBPC), based on the potential synergistic antitumor activity between apatinib and Radiation Therapy (RT). Patients and methods: In phase I dose escalation part, 18 patients received apatinib dose at 250 mg every other day, 250 mg daily and 500 mg daily. In phase II part, the 250 mg daily cohorts were expanded to 20 patients in combination of RT (6 Gy/fraction, 5 fraction in total), one patient lost followed up and excluded the study, comparing with RT alone cohort with 10 patients, ratio of RT to RT + apatinib was 1 to 2...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#18
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29339515/mers-cov-and-h5n1-influenza-virus-antagonize-antigen-presentation-by-altering-the-epigenetic-landscape
#19
Vineet D Menachery, Alexandra Schäfer, Kristin E Burnum-Johnson, Hugh D Mitchell, Amie J Eisfeld, Kevin B Walters, Carrie D Nicora, Samuel O Purvine, Cameron P Casey, Matthew E Monroe, Karl K Weitz, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Lisa E Gralinski, Thomas O Metz, Richard D Smith, Katrina M Waters, Amy C Sims, Yoshihiro Kawaoka, Ralph S Baric
Convergent evolution dictates that diverse groups of viruses will target both similar and distinct host pathways to manipulate the immune response and improve infection. In this study, we sought to leverage this uneven viral antagonism to identify critical host factors that govern disease outcome. Utilizing a systems-based approach, we examined differential regulation of IFN-γ-dependent genes following infection with robust respiratory viruses including influenza viruses [A/influenza/Vietnam/1203/2004 (H5N1-VN1203) and A/influenza/California/04/2009 (H1N1-CA04)] and coronaviruses [severe acute respiratory syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome CoV (MERS-CoV)]...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29339097/safety-and-preliminary-efficacy-of-venetoclax-with-decitabine-or-azacitidine-in-elderly-patients-with-previously-untreated-acute-myeloid-leukaemia-a-non-randomised-open-label-phase-1b-study
#20
Courtney D DiNardo, Keith W Pratz, Anthony Letai, Brian A Jonas, Andrew H Wei, Michael Thirman, Martha Arellano, Mark G Frattini, Hagop Kantarjian, Relja Popovic, Brenda Chyla, Tu Xu, Martin Dunbar, Suresh K Agarwal, Rod Humerickhouse, Mack Mabry, Jalaja Potluri, Marina Konopleva, Daniel A Pollyea
BACKGROUND: Elderly patients (aged ≥65 years) with acute myeloid leukaemia have poor outcomes and no effective standard-of-care therapy exists. Treatment with hypomethylating agents such as azacitidine and decitabine is common, but responses are modest and typically short-lived. The oral anti-apoptotic B-cell lymphoma 2 protein inhibitor, venetoclax, has shown promising single-agent activity in patients with relapsed or refractory acute myeloid leukaemia and preclinical data suggested synergy between hypomethylating agents and venetoclax, which led to this combination phase 1b study...
January 12, 2018: Lancet Oncology
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