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Zhong-Xi Niu, Hang Zhang, Long-Qi Chen, Hui Shi, Jun Peng, Li-Wei Su, Wei Li, Bo Xiao, Shu He, Hong-Xu Yue
BACKGROUND: The non-recurrent laryngeal nerve (NRLN) is a rare but potentially serious anomaly that is commonly associated with the aberrant right subclavian artery (ARSA). It is easy to damage during surgical resection of esophageal cancer, leading to severe complications. METHODS: Preoperative enhanced thoracic computed tomography (CT) scans of 2697 patients with esophageal carcinoma treated in our hospital between January 2010 and December 2013 were examined...
December 2, 2016: Thoracic Cancer
Adem Özkan, Hatice Asuman Özkara
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by Arylsulfatase A (ASA) deficiency. The hallmark of the disease is central and peripheral neurodegeneration. More than 200 mutations have been identified in ARSA gene so far. Some of these mutations were characterized. The aim of this study is to reinforce genotype-phenotype correlation and to understand the effect of mutations on the enzyme by biochemical characterization. Two missense mutations (c.919G→A, p.307Glu→Lys and c.954G→T, p...
November 2016: Intractable & Rare Diseases Research
Joo-Yeon Lee, Doe-Yoon Won, Sae-Hoon Oh, Sung-Young Hong, Ran-Sook Woo, Tai-Kyoung Baik, Hong-Il Yoo, Dae-Yong Song
We herein report a case showing three anatomical variations including the aberrant right subclavian artery (ARSA), the non-recurrent laryngeal nerve (NRLN) and the right thoracic duct in a 59-year-old male cadaver. The right subclavian artery arose from the descending aorta next to the left subclavian artery and coursed in between the oesophagus and the thoracic vertebrae. The recurrent laryngeal nerve did not coil around the right subclavian artery but directly entered the larynx. Lastly the thoracic duct terminated into the right brachiocephalic vein...
November 10, 2016: Folia Morphologica (Warsz)
Vasco Meneghini, Giacomo Frati, Davide Sala, Silvia De Cicco, Marco Luciani, Chiara Cavazzin, Marianna Paulis, Wieslawa Mentzen, Francesco Morena, Serena Giannelli, Francesca Sanvito, Anna Villa, Alessandro Bulfone, Vania Broccoli, Sabata Martino, Angela Gritti
: : Allogeneic fetal-derived human neural stem cells (hfNSCs) that are under clinical evaluation for several neurodegenerative diseases display a favorable safety profile, but require immunosuppression upon transplantation in patients. Neural progenitors derived from patient-specific induced pluripotent stem cells (iPSCs) may be relevant for autologous ex vivo gene-therapy applications to treat genetic diseases with unmet medical need. In this scenario, obtaining iPSC-derived neural stem cells (NSCs) showing a reliable "NSC signature" is mandatory...
September 16, 2016: Stem Cells Translational Medicine
David Allen, Hilary Bews, Minh Vo, Malek Kass, Davinder S Jassal, Amir Ravandi
Arteria Lusoria or aberrant right subclavian artery (ARSA) is present in 0.6-1.4% of individuals. It typically remains clinically silent and is often discovered during angiographic procedures. The presence of ARSA can make a right transradial approach for coronary angiography and angioplasty technically more difficult. With the use of catheter support, we describe two cases in which a right transradial approach for catheterization was successful in the setting of ARSA. As such, the presence of ARSA does not warrant abandoning a transradial approach for coronary angiography and angioplasty...
2016: Case Reports in Cardiology
M Angeles Argudín, Birgit Lauzat, Britta Kraushaar, Patricia Alba, Yvonne Agerso, Lina Cavaco, Patrick Butaye, M Concepción Porrero, Antonio Battisti, Bernd-Alois Tenhagen, Alexandra Fetsch, Beatriz Guerra
Livestock associated methicillin-resistant Staphylococcus aureus (LA-MRSA) has emerged in animal production worldwide. Most LA-MRSA in Europe belong to the clonal complex (CC) 398. The reason for the LA-MRSA emergence is not fully understood. Besides antimicrobial agents used for therapy, other substances with antimicrobial activity applied in animal feed, including metal-containing compounds might contribute to their selection. Some of these genes have been found in various novel SCCmec cassettes. The aim of this study was to assess the occurrence of metal-resistance genes among a LA-S...
August 15, 2016: Veterinary Microbiology
Zhihong Wang, Yanhong Lin, Dezhu Zheng, Aizhen Yan, Xiangdong Tu, Juan Lin, Fenghua Lan
BACKGROUND: Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused mainly by variants in arylsulfatase A (ARSA) gene. MLD can be divided into three major clinical forms according to the age of onset: late infantile, juvenile, and adult. We report two siblings of late infantile MLD presenting with cerebellar ataxia as the only first clinical symptom. METHODS: Because of the unspecific neurological manifestation, whole-exome sequencing (WES) was performed to find disease-causing mutations for molecular diagnosis...
September 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Marilene Gonçalves Queiroz, Jaqueline Alves de Araújo, Diego Augusto Nunes Rezende, André Rodrigues Lourenço Dias, Fabíola Isoton Novelli, Gabriel Kolesny Tricot, Kamila Meireles Dos Santos, Gisela Arsa da Cunha, Lucieli Teresa Cambri
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Rohan S Menon, Corbin Muetterties, George William Moser, Grayson H Wheatley
As more challenging aortic arch anatomy is being treated using aortic stent-grafts, there is an increased risk for proximal Type I endoleaks at the proximal seal zone or subsequent graft migration. We report a case of an endoanchor-assisted thoracic endovascular aneurysm repair of a patient with an aberrant right subclavian artery (ARSA) and aortic arch aneurysm who developed a proximal Type I endoleak in the aortic arch which was subsequently treated with endoanchors.
August 2016: Journal of Cardiac Surgery
Stella S Vieira, Brunno Lemes, Paulo de T C de Carvalho, Rafael N de Lima, Danilo S Bocalini, José A S Junior, Gisela Arsa, Cezar A Casarin, Erinaldo L Andrade, Andrey J Serra
INTRODUCTION: Cardiac output increases during incremental-load exercise to meet metabolic skeletal muscle demand. This response requires a fast adjustment in heart rate and stroke volume. The heart rate is well known to increase linearly with exercise load; however, data for stroke volume during incremental-load exercise are unclear. Our objectives were to (a) review studies that have investigated stroke volume on incremental load exercise and (b) summarize the findings for stroke volume, primarily at maximal-exercise load...
2016: Open Cardiovascular Medicine Journal
Mengjing Zhao, Shuai Wang, Feng Li, Dong Dong, Baojian Wu
Elucidating the intricate relationships between metabolic and transport pathways contributes to improved predictions of in vivo drug disposition and drug-drug interactions. Here we reported that inhibited excretion of conjugative metabolites [i.e., hesperetin 3'-O-sulfate (H3'S) and hesperetin 7-O-sulfate (H7S)] by MK-571 led to reduced metabolism of hesperetin (a maximal 78% reduction) in human embryonic kidney 293 cells overexpressing sulfotransferase 1A3 (named SULT293 cells). The strong dependence of cellular sulfonation on the efflux transport of generated sulfated metabolites revealed an interplay of sulfonation metabolism with efflux transport (or sulfonation-transport interplay)...
September 2016: Drug Metabolism and Disposition: the Biological Fate of Chemicals
Sourabh Dhingra, Caitlin H Kowlaski, Arsa Thammahong, Sarah R Beattie, Katherine M Bultman, Robert A Cramer
SREBP transcription factors play a critical role in fungal virulence; however, the mechanisms of sterol regulatory element binding protein (SREBP) activation in pathogenic fungi remains ill-defined. Screening of the Neurospora crassa whole-genome deletion collection for genes involved in hypoxia responses identified a gene for an uncharacterized rhomboid protease homolog, rbdB, required for growth under hypoxic conditions. Loss of rbdB in Aspergillus fumigatus also inhibited growth under hypoxic conditions...
March 2016: MSphere
Maria Sessa, Laura Lorioli, Francesca Fumagalli, Serena Acquati, Daniela Redaelli, Cristina Baldoli, Sabrina Canale, Ignazio D Lopez, Francesco Morena, Andrea Calabria, Rossana Fiori, Paolo Silvani, Paola M V Rancoita, Michela Gabaldo, Fabrizio Benedicenti, Gigliola Antonioli, Andrea Assanelli, Maria Pia Cicalese, Ubaldo Del Carro, Maria Grazia Natali Sora, Sabata Martino, Angelo Quattrini, Eugenio Montini, Clelia Di Serio, Fabio Ciceri, Maria Grazia Roncarolo, Alessandro Aiuti, Luigi Naldini, Alessandra Biffi
BACKGROUND: Metachromatic leukodystrophy (a deficiency of arylsulfatase A [ARSA]) is a fatal demyelinating lysosomal disease with no approved treatment. We aimed to assess the long-term outcomes in a cohort of patients with early-onset metachromatic leukodystrophy who underwent haemopoietic stem-cell gene therapy (HSC-GT). METHODS: This is an ad-hoc analysis of data from an ongoing, non-randomised, open-label, single-arm phase 1/2 trial, in which we enrolled patients with a molecular and biochemical diagnosis of metachromatic leukodystrophy (presymptomatic late-infantile or early-juvenile disease or early-symptomatic early-juvenile disease) at the Paediatric Clinical Research Unit, Ospedale San Raffaele, in Milan...
July 30, 2016: Lancet
Romain Riscal, Emilie Schrepfer, Giuseppe Arena, Madi Y Cissé, Floriant Bellvert, Maud Heuillet, Florian Rambow, Eric Bonneil, Frédérique Sabourdy, Charles Vincent, Imade Ait-Arsa, Thierry Levade, Pierre Thibaut, Jean-Christophe Marine, Jean-Charles Portais, Jean-Emmanuel Sarry, Laurent Le Cam, Laetitia K Linares
The mouse double minute 2 (MDM2) oncoprotein is recognized as a major negative regulator of the p53 tumor suppressor, but growing evidence indicates that its oncogenic activities extend beyond p53. Here, we show that MDM2 is recruited to chromatin independently of p53 to regulate a transcriptional program implicated in amino acid metabolism and redox homeostasis. Identification of MDM2 target genes at the whole-genome level highlights an important role for ATF3/4 transcription factors in tethering MDM2 to chromatin...
June 16, 2016: Molecular Cell
Raphael Martins Cunha, Gisela Arsa, Eduardo Borba Neves, Lorena Curado Lopes, Fabio Santana, Marcelo Vasconcelos Noleto, Thais I Rolim, Alexandre Machado Lehnen
One exercise training session such as walking, running, and resistance can lead to a decrease in blood pressure in normotensive and hypertensive individuals, but few studies have investigated the effects of exercise training in an aquatic environment for overweight and obese hypertensive individuals. We aimed to assess the acute effects of a water aerobics session on blood pressure changes in pharmacologically treated overweight and obese hypertensive women. A randomized crossover study was carried out with 18 hypertensive women, 10 of them were overweight (54...
July 2016: Journal of the American Society of Hypertension: JASH
Julie Giraud, Laura M Failla, Jean-Marc Pascussi, Ebba L Lagerqvist, Jérémy Ollier, Pascal Finetti, François Bertucci, Chu Ya, Imène Gasmi, Jean-François Bourgaux, Michel Prudhomme, Thibault Mazard, Imade Ait-Arsa, Leila Houhou, Daniel Birnbaum, André Pélegrin, Charles Vincent, James G Ryall, Dominique Joubert, Julie Pannequin, Frédéric Hollande
Subpopulations of cancer stem-like cells (CSC) are thought to drive tumor progression and posttreatment recurrence in multiple solid tumors. However, the mechanisms that maintain stable proportions of self-renewing CSC within heterogeneous tumors under homeostatic conditions remain poorly understood. Progastrin is a secreted peptide that exhibits tumor-forming potential in colorectal cancer, where it regulates pathways known to modulate colon CSC behaviors. In this study, we investigated the role of progastrin in regulating CSC phenotype in advanced colorectal cancer...
June 15, 2016: Cancer Research
Y Echeverri Olga, A Salazar Diego, Alexander Rodriguez-Lopez, González Janneth, J Almeciga-Diaz Carlos, A Barrera Luis
The nervous system is responsible for the communication between the organism and its environment. This task is possible by the presence of the myelin sheath, which is a double membrane formed by about 75% lipids and 25% proteins. The sulfatide represents one of the main lipids of the myelin band; its degradation is catabolized by the enzyme Arylsulfatase A (ARSA), to generated galactosylceramide. Mutations affecting ARSA function lead to the neurodegenerative disease Metachromatic Leukodystrophy. This disease is characterized by accumulation of sulfatide within the band of myelin affecting its functionality...
May 10, 2016: Central Nervous System Agents in Medicinal Chemistry
Seul Ki Lim, Joon Yong Kim, Hye Seon Song, Min-Sung Kwon, Jieun Lee, Young Jun Oh, Young-Do Nam, Myung-Ji Seo, Dong-Gi Lee, Jong-Soon Choi, Changmann Yoon, Eunju Sohn, Md Arif-Ur Rahman, Seong Woon Roh, Hak-Jong Choi
The extremely halophilic archaeon Halobacterium noricense is a member of the genus Halobacterium. Strain CBA1132 (= KCCM 43183, JCM 31150) was isolated from solar salt. The genome of strain CBA1132 assembled with 4 contigs, including three rRNA genes, 44 tRNA genes, and 3,208 open reading frames. Strain CBA1132 had nine putative CRISPRs and the genome contained genes encoding metal resistance determinants: copper-translocating P-type ATPase (CtpA), arsenical pump-driving ATPase (ArsA), arsenate reductase (ArsC), and arsenical resistance operon repressor (ArsR)...
August 28, 2016: Journal of Microbiology and Biotechnology
Pimpin Incharoen, Thanyanan Reungwetwattana, Sakditad Saowapa, Kaettipong Kamprerasart, Duangjai Pangpunyakulchai, Lalida Arsa, Artit Jinawath
BACKGROUND: Anaplastic lymphoma kinase (ALK) gene rearrangement is detected in 3% to 13% of non-small cell lung carcinoma patients, and these patients benefit from ALK inhibitors. The aim of this study was to determine the prevalence, the clinical and histological characteristics and the treatment outcomes of ALK-rearranged lung adenocarcinoma using immunohistochemistry (IHC) IHC, reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) methodologies...
2016: World Journal of Surgical Oncology
Nathan Paul Sweeney, Cathy Regan, Jiahui Liu, Antonio Galleu, Francesco Dazzi, Dirk Lindemann, Charles Anthony Rupar, Myra Olga McClure
Mesenchymal stromal cells (MSCs) hold great promise for regenerative medicine. Stable ex vivo gene transfer to MSCs could improve the outcome and scope of MSC therapy, but current vectors require multiple rounds of transduction, involve genotoxic viral promoters and/or the addition of cytotoxic cationic polymers in order to achieve efficient transduction. We describe a self-inactivating foamy virus vector (FVV), incorporating the simian macaque foamy virus envelope and using physiological promoters, which efficiently transduces murine MSCs (mMSCs) in a single-round...
August 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
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