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Angela C Ranzini, Francine Hyman, Emily Jamaer, Tim van Mieghem
OBJECTIVES: To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion. METHODS: We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records. RESULTS: Seventy-nine fetuses with ARSA were identified at 20...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Konstantinos Natsis, Matthaios Didagelos, Anna Gkiouliava, Nikolaos Lazaridis, Vasilios Vyzas, Maria Piagkou
PURPOSE: Taking into consideration that the aberrant right subclavian artery (ARSA) is the commonest congenital aortic arch anomaly (prevalence 0.16-4.4%), our goal was to investigate its incidence in Greeks, with respect to location, course, and relationship to trachea and esophagus. Gender dimorphism, coexisting neural, and vascular variations were also examined. The clinical impact and embryological background of the variation are discussed. METHODS: Two hundred and sixty-seven (126 male and 141 female) formalin-embalmed Greek cadavers (mean age 59 ± 13 years) were examined...
December 20, 2016: Surgical and Radiologic Anatomy: SRA
Enzong Xiao, Valdis Krumins, Tangfu Xiao, Yiran Dong, Song Tang, Zengping Ning, Zhengyu Huang, Weimin Sun
Investigation of microbial communities of soils contaminated by antimony (Sb) and arsenic (As) is necessary to obtain knowledge for their bioremediation. However, little is known about the depth profiles of microbial community composition and structure in Sb and As contaminated soils. Our previous studies have suggested that historical factors (i.e., soil and sediment) play important roles in governing microbial community structure and composition. Here, we selected two different types of soil (flooded paddy soil versus dry corn field soil) with co-contamination of Sb and As to study interactions between these metalloids, geochemical parameters and the soil microbiota as well as microbial metabolism in response to Sb and As contamination...
February 2017: Environmental Pollution
Wilhem Leconet, Myriam Chentouf, Stanislas Du Manoir, Clément Chevalier, Audrey Sirevnt, Imade Aït-Arsa, Muriel Busson, Marta Jarlier, Nina Radosevic-Robin, Charles G Theillet, Dany Chalbos, Jean-Max Pasquet, André Pèlegrin, Christel Larbouret, Bruno Robert
PURPOSE: AXL receptor tyrosine kinase has been described as a relevant molecular marker and a key player in invasiveness, especially in triple negative breast cancer (TNBC). EXPERIMENTAL DESIGN: We evaluate the anti-tumor efficacy of the anti-AXL monoclonal antibody 20G7-D9 in several TNBC cell xenografts or patient-derived xenograft (PDX) models and decipher the underlying mechanisms. In a dataset of 254 basal-like breast cancer samples, genes correlated with AXL expression are enriched in EMT, migration and invasion signaling pathways...
December 6, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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...
January 2017: 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
J-Y Lee, D-Y Won, S-H Oh, S-Y Hong, R-S Woo, T-K Baik, H-I Yoo, D-Y 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 (RSA) 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 RSA but directly entered the larynx. Lastly the thoracic duct terminated into the right brachiocephalic vein...
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
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