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https://www.readbyqxmd.com/read/28431061/high-prevalence-of-arrhythmic-and-myocardial-complications-in-patients-with-cardiac-glycogenosis-due-to-prkag2-mutations
#1
Julien Thevenon, Gabriel Laurent, Flavie Ader, Pascal Laforêt, Didier Klug, Anju Duva Pentiah, Laurent Gouya, Claude Alain Maurage, Salem Kacet, Jean-Christophe Eicher, Juliette Albuisson, Michel Desnos, Eric Bieth, Denis Duboc, Laurent Martin, Patricia Réant, François Picard, Claire Bonithon-Kopp, Elodie Gautier, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre, Patrice Bouvagnet, Philippe Charron, Pascale Richard
Aims: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations. Methods and Results: A cohort of 34 patients from 9 families was recruited between 2001 and 2010...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431051/safety-long-term-outcomes-and-predictors-of-recurrence-after-first-line-combined-endoepicardial-ventricular-tachycardia-substrate-ablation-in-arrhythmogenic-cardiomyopathy-impact-of-arrhythmic-substrate-distribution-pattern-a-prospective-multicentre-study
#2
Antonio Berruezo, Juan Acosta, Juan Fernández-Armenta, Alonso Pedrote, Alberto Barrera, Eduardo Arana-Rueda, Andrés Ignacio Bodegas, Ignasi Anguera, Luis Tercedor, Diego Penela, David Andreu, Rosario Jesus Perea, Susana Prat-González, Lluis Mont
Background: First-line endoepicardial ventricular tachycardia (VT) ablation has been proposed for patients with arrhythmogenic cardiomyopathy (AC). This study reports procedural safety, outcomes, and predictors of recurrence. Methods and Results: Forty-one consecutive patients [12 with left ventricle (LV) involvement, 7 left-dominant] underwent first-line endoepicardial VT substrate ablation. Standard bipolar and unipolar thresholds were used to define low-voltage areas (LVA)...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431050/role-of-adenosine-guided-pulmonary-vein-isolation-in-patients-undergoing-catheter-ablation-for-atrial-fibrillation-a-meta-analysis
#3
Yi-He Chen, Hui Lin, Cheng-Long Xie, Jian-Wen Hou, Yi-Gang Li
Aims: Adenosine had been reported to unmask dormant conduction and thus identify pulmonary vein at risk of reconnection. However, the role of adjunctive adenosine infusion after pulmonary vein isolation (PVI) on long-term arrhythmia-free survival was still contentious. The purpose of the present meta-analysis was to assess the association of adenosine testing with long-term ablation success in patients with atrial fibrillation (AF) (i.e. freedom from AF recurrence). Methods and Results: We systematically searched the electronic databases and finally included 10 studies, with 1771 patients undergoing adenosine-guided PVI and 1787 patients undergoing conventional PVI...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28430811/antimicrobial-resistance-in-coagulase-positive-staphylococci-isolated-from-companion-animals-in-australia-a-one-year-study
#4
Sugiyono Saputra, David Jordan, Kate A Worthing, Jacqueline M Norris, Hui S Wong, Rebecca Abraham, Darren J Trott, Sam Abraham
Methicillin-resistant coagulase-positive staphylococci (CoPS) have become increasingly recognised as opportunistic pathogens that limit therapeutic options in companion animals. The frequency of methicillin resistance amongst clinical isolates on an Australia-wide level is unknown. This study determined antimicrobial susceptibility patterns for CoPS isolated from clinical infections in companion animals (dogs, cats and horses) as part of the first nation-wide survey on antimicrobial resistance in animal pathogens in Australia for a one-year period (January 2013 to January 2014)...
2017: PloS One
https://www.readbyqxmd.com/read/28430808/quantification-of-hypoxia-related-gene-expression-as-a-potential-approach-for-clinical-outcome-prediction-in-breast-cancer
#5
Abderrahim El Guerrab, Anne Cayre, Fabrice Kwiatkowski, Maud Privat, Jean-Marc Rossignol, Fabrice Rossignol, Frédérique Penault-Llorca, Yves-Jean Bignon
Breast cancers are solid tumors frequently characterized by regions with low oxygen concentrations. Cellular adaptations to hypoxia are mainly determined by "hypoxia inducible factors" that mediate transcriptional modifications involved in drug resistance and tumor progression leading to metastasis and relapse occurrence. In this study, we investigated the prognostic value of hypoxia-related gene expression in breast cancer. A systematic review was conducted to select a set of 45 genes involved in hypoxia signaling pathways and breast tumor progression...
2017: PloS One
https://www.readbyqxmd.com/read/28430790/whole-genome-sequencing-suggests-mechanisms-for-22q11-2-deletion-associated-parkinson-s-disease
#6
Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11...
2017: PloS One
https://www.readbyqxmd.com/read/28430663/co-expression-network-analysis-identified-six-hub-genes-in-association-with-metastasis-risk-and-prognosis-in-hepatocellular-carcinoma
#7
Pengfei Chen, Fan Wang, Juerong Feng, Rui Zhou, Ying Chang, Jing Liu, Qiu Zhao
Hepatocellular carcinoma (HCC) has a high incidence and mortality worldwide, and its carcinogenesis and progression are influenced by a complex network of gene interactions. A weighted gene co-expression network was constructed to identify gene modules associated with the clinical traits in HCC (n = 214). Among the 13 modules, high correlation was only found between the red module and metastasis risk (classified by the HCC metastasis gene signature) (R2 = -0.74). Moreover, in the red module, 34 network hub genes for metastasis risk were identified, six of which (ABAT, AGXT, ALDH6A1, CYP4A11, DAO and EHHADH) were also hub nodes in the protein-protein interaction network of the module genes...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430600/risk-factors-for-the-recurrence-of-an-intracranial-saccular-aneurysm-following-endovascular-treatment
#8
De-Zhang Huang, Bin Jiang, Wei He, Yi-Hua Wang, Zhi-Gang Wang
BACKGROUND: This study was aimed to determine risk factors for the recurrence of an intracranial saccular aneurysm (ISA) following endovascular treatment. The findings will help medical professionals to identify patients having a high risk of ISA recurrence and assist them in developing appropriate follow-up plans. RESULTS: During the follow-up period, 12.6% of the patients (83/658) experienced recurrent ISAs. An analysis of related factors, including gender, age, hypertension, diabetes mellitus, smoking, tumor size, width of the aneurysm neck, the presence or absence of a rupture, the volume embolization ratio (VER), the application or nonapplication of a stent, and follow-up time, revealed that a tumor size > 10 mm in diameter, wide-necked aneurysms, an anterior communicating or middle cerebral artery aneurysm, an aneurysm rupture, a VER < 20%, the absence of stent assistance, and follow-up time were high-risk factors for the recurrence of ISAs...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430391/analysis-of-pulmonary-embolus-size-at-the-time-of-recurrence-compared-with-presentation-a-single-centre-retrospective-study
#9
W Thomas, O Firth, M Besser, M Beveridge, T Baglin
BACKGROUND: the size of recurrent pulmonary embolus (PE) in relation to a prior event could be a factor in deciding whether to continue anticoagulation. There is no published data on this subject to help with counselling patients. OBJECTIVES: to determine whether size of a first PE predicts the size at recurrence. PATIENTS AND METHODS: retrospective cohort study of consecutive patients over 25 months, at a single tertiary centre, with recurrent PE...
April 21, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28430065/ethical-issues-in-fecal-microbiota-transplantation-in-practice
#10
Yonghui Ma, Jiayu Liu, Catherine Rhodes, Yongzhan Nie, Faming Zhang
Fecal microbiota transplantation (FMT) has demonstrated efficacy and is increasingly being used in the treatment of patients with recurrent Clostridium difficile infection. Despite a lack of high-quality trials to provide more information on the long-term effects of FMT, there has been great enthusiasm about the potential for expanding its applications. However, FMT presents many serious ethical and social challenges that must be addressed as part of a successful regulatory policy response. In this article, we draw on a sample of the scientific and bioethics literatures to examine clusters of ethical and social issues arising in five main areas: (1) informed consent and the vulnerability of patients; (2) determining what a "suitable healthy donor" is; (3) safety and risk; (4) commercialization and potential exploitation of vulnerable patients; and (5) public health implications...
May 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/28430050/letter-to-the-editor-risk-of-recurrence-of-lumbar-disc-herniation-after-microdiscectomy-for-scoliosis
#11
Zhiming Tu, Yawei Li, Lei Li, Guohua Lv, Bing Wang
No abstract text is available yet for this article.
April 21, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28429674/targeting-the-role-of-lipoprotein-a-in-stroke
#12
Mahdi Garelnabi, Zahra Mazhar, Andrew Hughes
Stroke is the third leading cause of death in the United States, behind only heart disease and cancer, with over 140,000 associated deaths per year. Considerable research is ongoing to examine the role of modifiable risk factors which may cause or contribute to a stroke occurring. Although age and family history are generally considered to be major risk factors, there are several modifiable and non-modifiable risk factors that are linked to the pathogenesis of a stroke. Lipoprotein (a), or Lp(a), is a type of low-density lipoprotein containing an integral apoB100 component with an attached ApoA1 isoform via a disulfide linkage...
April 21, 2017: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/28429499/atrial-fibrillation-patients-with-isolated-pulmonary-veins-is-sinus-rhythm-achievable
#13
Judit Szilágyi, Gregory M Marcus, Nitish Badhwar, Byron K Lee, Randall J Lee, Vasanth Vedantham, Zian H Tseng, Tomos Walters, Melvin Scheinman, Jeffrey Olgin, Edward P Gerstenfeld
BACKGROUND: The cornerstone of atrial fibrillation (AF) ablation is isolation of the pulmonary veins (PVs). Patients with recurrent AF undergoing repeat ablation usually have PV reconnection (PVr). The ablation strategy and outcome of patients undergoing repeat ablation who have persistent isolation of all PVs (PVi) at the time of repeat ablation is unknown. METHODS AND RESULTS: We studied consecutive patients with recurrent AF undergoing repeat ablation and compared patients with PVi to those with PVr...
April 21, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28429454/scuba-diving-patent-foramen-ovale-and-heart-rhythm-disturbances-the-role-of-underwater-holter-monitoring-case-report
#14
Szymon Olędzki, Andrzej Wojtarowicz, Edyta Płońska-Gościniak, Maciej Lewandowski, Jarosław Gorący
Patent foramen ovale (PFO) is thought to be a risk factor for decompression illness (DCI). Catheter-based closure procedure reduces the risk of DCI in selected scuba divers with PFO. Major complication of invasive approach are rare, minor, especially heart rhythm disturbances are reported relatively often. We describe a case of 41-year-old diver, who underwent PFO closure due to recurrent DCI events. Afterward, he experienced no DCI symptoms; however, he complained about feeling of the heart beating during a submersion...
April 21, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28429357/inhibition-of-pulmonary-carcinoma-proliferation-or-metastasis-of-mir-218-via-down-regulating-cdcp1-expression
#15
X-J Zeng, Y-H Wu, M Luo, P-G Cong, H Yu
OBJECTIVE: Pulmonary carcinoma is one common malignant tumor with a high risk of recurrence and metastasis. Non-small cell lung cancer (NSCLC) is the most common subtype. As one tumor biomarker, microRNA (miR) has tissue sensitivity and can facilitate oncogene or inhibit tumor suppressor gene. MiR-218 has abnormal expression and can work as one molecular marker for tumors. However, its expression and function mechanism in lung cancer cells have not been fully illustrated. MATERIALS AND METHODS: In vitro cultured pulmonary adenoma A549 cells and normal bronchial epithelial cell line 16HBE were tested for miR-218 expression...
April 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28429128/endophthalmitis-associated-with-purpureocillium-lilacinum-during-infliximab-treatment-for-surgically-induced-necrotizing-scleritis-successfully-treated-with-27-gauge-vitrectomy
#16
Masaaki Yoshida, Shunji Yokokura, Hiroshi Kunikata, Naoko Takada, Kazuichi Maruyama, Masahiro Toyokawa, Kazushi Kashio, Mitsuo Kaku, Toru Nakazawa
PURPOSE: To report a case of endophthalmitis associated with Purpureocillium lilacinum (P. lilacinum) during infliximab treatment for surgically induced necrotizing scleritis, successfully treated with 27-gauge vitrectomy. METHODS: A single case report. RESULTS: A 71-year-old man who had undergone immunosuppressive therapy, including infliximab, for surgically induced necrotizing scleritis (SINS) in his left eye complained of visual disturbance and eye pain in the eye...
April 20, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28429089/the-effectiveness-of-prophylactic-modified-neck-dissection-for-reducing-the-development-of-lymph-node-recurrence-of-papillary-thyroid-carcinoma
#17
Yasuhiro Ito, Akira Miyauchi, Takumi Kudo, Minoru Kihara, Mitsuhiro Fukushima, Akihiro Miya
AIM: The most frequent recurrence site of papillary thyroid carcinoma (PTC) is the cervical lymph nodes. The introduction of an electric linear probe for use with ultrasonography in 1996 improved preoperative lateral neck evaluations. Before 2006, however, our hospital routinely performed prophylactic modified neck dissection (p-MND) for N0 or N1a PTCs >1 cm to prevent node recurrence. In 2006, we changed our policy and the indications for p-MND to PTCs >3 cm and/or with significant extrathyroid extension...
April 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28428927/limitations-of-personalized-medicine-and-gene-assays-for-breast-cancer
#18
David Tiberi, Laura Masucci, Daniel Shedid, Isabelle Roy, Toni Vu, Erica Patocskai, André Robidoux, Philip Wong
Adjuvant systemic treatments reduce the risk of breast cancer recurrence following the local treatment of primary stage I-III breast cancers. For patients with hormone-positive breast cancers receiving hormonal therapy, the risk of distant recurrence is under 20% and therefore, many patients may potentially be spared of chemotherapy. Consequently, several molecular signatures based on gene expression were developed to better determine which breast cancer patients would benefit from chemotherapy. We present the case of a 62-year-old woman diagnosed with an early stage hormone receptor-positive breast cancer that was treated with a partial mastectomy...
March 17, 2017: Curēus
https://www.readbyqxmd.com/read/28428902/nonfamilial-juvenile-polyposis-syndrome-with-exon-5-novel-mutation-in-smad-4-gene
#19
Amna Ahmed, Badr Alsaleem
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder, characterized by multiple juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. An 8-year-old boy presented with recurrent rectal bleeding and was found to have multiple polyps in the entire colon. The histology of the resected polyps was consistent with juvenile polyps...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28428149/local-control-and-toxicity-of-adaptive-radiotherapy-using-weekly-ct-imaging-results-from-the-lartia-trial-in-stage-iii-nsclc
#20
Sara Ramella, Michele Fiore, Sonia Silipigni, Maria Cristina Zappa, Massimo Jaus, Antonio Maria Alberti, Paolo Matteucci, Elisabetta Molfese, Patrizia Cornacchione, Carlo Greco, Lucio Trodella, Edy Ippolito, Rolando Maria D'Angelillo
INTRODUCTION: Anatomical change of tumor during radiotherapy contributes to target missing. However, in case of tumor shrinkage adaptation of volume could results in an increased incidence of recurrences in the area of target reduction. This study aims to investigate the incidence of failure of adaptive approach and in particular the risk of local recurrence in the area excluded after replanning. METHODS: In this prospective study, LA-NSCLC patients treated with concomitant chemoradiation underwent weekly chest-CT simulation during treatment...
April 17, 2017: Journal of Thoracic Oncology
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