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https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#1
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar Shira, Yuval Yaron
OBJECTIVES: to evaluate the incidence of chromosomal aberration (both microscopic and sub-microscopic) in fetuses with an aberrant right subclavian artery (ARSA) detected by ultrasonographic anomaly scan. METHODS: The study included 62 pregnant women whose fetuses were diagnosed with ARSA who were referred for genetic counseling. Of these, 55 patients underwent amniocentesis and 7 declined invasive testing. All 55 amniocentesis samples were tested by standard G-banding and chromosomal microarray (CMA), except for 2 samples for which only karyotype and FISH for 22q11...
June 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28514512/prevalence-of-the-aberrant-right-subclavian-artery-reported-in-a-published-systematic-review-of-cadaveric-studies-the-impact-of-an-outlier
#2
REVIEW
Anthony P Polednak
The aberrant or anomalous right subclavian artery (ARSA), which arises directly from the aortic arch and crosses to the right side usually behind the esophagus, is a rare but clinically important anatomical variant. A published systematic review (SR) of 15 cadaveric studies on ARSA reported that prevalence ranged from 0.2% to 13.3% of the general population; the total unweighted prevalence of ARSA was 325 cases in 13,208 bodies or 2.46%. The present review, however, found that the 13.3% figure was for 133 cases from a larger case series without a denominator...
May 17, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28442603/aspergillus-fumigatus-trehalose-regulatory-subunit-homolog-moonlights-to-mediate-cell-wall-homeostasis-through-modulation-of-chitin-synthase-activity
#3
Arsa Thammahong, Alayna K Caffrey-Card, Sourabh Dhingra, Joshua J Obar, Robert A Cramer
Trehalose biosynthesis is found in fungi but not humans. Proteins involved in trehalose biosynthesis are essential for fungal pathogen virulence in humans and plants through multiple mechanisms. Loss of canonical trehalose biosynthesis genes in the human pathogen Aspergillus fumigatus significantly alters cell wall structure and integrity, though the mechanistic link between these virulence-associated pathways remains enigmatic. Here we characterize genes, called tslA and tslB, which encode proteins that contain domains similar to those corresponding to trehalose-6-phosphate phosphatase but lack critical catalytic residues for phosphatase activity...
April 25, 2017: MBio
https://www.readbyqxmd.com/read/28423062/filamentous-fungal-carbon-catabolite-repression-supports-metabolic-plasticity-and-stress-responses-essential-for-disease-progression
#4
Sarah R Beattie, Kenneth M K Mark, Arsa Thammahong, Laure Nicolas Annick Ries, Sourabh Dhingra, Alayna K Caffrey-Carr, Chao Cheng, Candice C Black, Paul Bowyer, Michael J Bromley, Joshua J Obar, Gustavo H Goldman, Robert A Cramer
Aspergillus fumigatus is responsible for a disproportionate number of invasive mycosis cases relative to other common filamentous fungi. While many fungal factors critical for infection establishment are known, genes essential for disease persistence and progression are ill defined. We propose that fungal factors that promote navigation of the rapidly changing nutrient and structural landscape characteristic of disease progression represent untapped clinically relevant therapeutic targets. To this end, we find that A...
April 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#5
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28390914/thoracic-endovascular-repair-of-blunt-thoracic-aortic-injury-in-the-setting-of-an-aberrant-right-subclavian-artery
#6
Donald G Harris, Michael E Huffner, Luqman Croal-Abrahams, Laura DiChiacchio, Behzad S Farivar, Joseph D Ayers, Shahab Toursavadkohi, Joseph Rabin, Robert S Crawford
Blunt thoracic aortic injury (BTAI) in a patient with an aberrant right subclavian artery (ARSA) presents unique challenges for patient management and aortic repair. Specific considerations include the need to treat coincidental ARSA, subclavian revascularization, and ARSA exclusion. Despite the rise of endovascular endovascular repair as the primary modality for aortic repair for BTAI, reports of this technique in the setting of ARSA are limited. Here we describe three patients with ARSA who underwent TEVAR for BTAI, and discuss critical management and technical issues in these patients...
April 5, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28382961/in-search-of-tail-anchored-protein-machinery-in-plants-reevaluating-the-role-of-arsenite-transporters
#7
Manuel Maestre-Reyna, Shu-Mei Wu, Yu-Ching Chang, Chi-Chih Chen, Alvaro Maestre-Reyna, Andrew H-J Wang, Hsin-Yang Chang
Although the mechanisms underlying selective targeting of tail-anchored (TA) membrane proteins are well established in mammalian and yeast cells, little is known about their role in mediating intracellular membrane trafficking in plant cells. However, a recent study suggested that, in green algae, arsenite transporters located in the cytosol (ArsA1 and ArsA2) control the insertion of TA proteins into the membrane-bound organelles. In the present work, we overproduced and purified these hydrophilic proteins to near homogeneity...
April 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322033/prenatal-diagnosis-of-aberrant-right-subclavian-artery-in-an-unselected-population
#8
Mi Jin Song, Byoung Hee Han, Young-Hwa Kim, So Young Yoon, Yoo Mi Lee, Hye Su Jeon, Bo Kyung Park
Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane...
February 20, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28298477/central-role-of-the-trehalose-biosynthesis-pathway-in-the-pathogenesis-of-human-fungal-infections-opportunities-and-challenges-for-therapeutic-development
#9
REVIEW
Arsa Thammahong, Srisombat Puttikamonkul, John R Perfect, Richard G Brennan, Robert A Cramer
Invasive fungal infections cause significant morbidity and mortality in part due to a limited antifungal drug arsenal. One therapeutic challenge faced by clinicians is the significant host toxicity associated with antifungal drugs. Another challenge is the fungistatic mechanism of action of some drugs. Consequently, the identification of fungus-specific drug targets essential for fitness in vivo remains a significant goal of medical mycology research. The trehalose biosynthetic pathway is found in a wide variety of organisms, including human-pathogenic fungi, but not in humans...
June 2017: Microbiology and Molecular Biology Reviews: MMBR
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#10
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28258603/incidence-of-an-aberrant-right-subclavian-artery-on-second-trimester-sonography-in-an-unselected-population
#11
Selen Gursoy Erzincan, Burcin Karamustafaoglu Balci, Cengiz Tokgoz, Ibrahim Halil Kalelioglu
OBJECTIVES: The aim of this study was to assess the incidence of an aberrant right subclavian artery (ARSA) among an unselected population during second-trimester sonography and to review the importance of this conotruncal variant as a marker of Down syndrome. METHODS: The presence or absence of an ARSA was assessed in an unselected population of 1913 second-trimester fetuses. RESULTS: Among the 1913 patients, an ARSA was detected in 20 fetuses (1...
May 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28191778/generation-of-human-induced-pluripotent-stem-cell-derived-bona-fide-neural-stem-cells-for-ex-vivo-gene-therapy-of-metachromatic-leukodystrophy
#12
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...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28072476/aberrant-right-subclavian-artery-correlation-between-fetal-and-neonatal-abnormalities-and-abnormal-genetic-screening-or-testing
#13
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...
April 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27999944/the-aberrant-right-subclavian-artery-cadaveric-study-and-literature-review
#14
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
https://www.readbyqxmd.com/read/27979681/depth-resolved-microbial-community-analyses-in-two-contrasting-soil-cores-contaminated-by-antimony-and-arsenic
#15
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
https://www.readbyqxmd.com/read/27923843/therapeutic-activity-of-anti-axl-antibody-against-triple-negative-breast-cancer-patient-derived-xenografts-and-metastasis
#16
Wilhem Leconet, Myriam Chentouf, Stanislas du Manoir, Clément Chevalier, Audrey Sirvent, Imade Aït-Arsa, Muriel Busson, Marta Jarlier, Nina Radosevic-Robin, Charles 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 antitumor 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
https://www.readbyqxmd.com/read/27910227/preoperative-computed-tomography-diagnosis-of-non-recurrent-laryngeal-nerve-in-patients-with-esophageal-carcinoma
#17
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
https://www.readbyqxmd.com/read/27904824/metachromatic-leukodystrophy-biochemical-characterization-of-two-p-307glu%C3%A2-lys-p-318trp%C3%A2-cys-arylsulfatase-a-mutations
#18
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
https://www.readbyqxmd.com/read/27830894/three-concurrent-variations-of-the-aberrant-right-subclavian-artery-the-non-recurrent-laryngeal-nerve-and-the-right-thoracic-duct
#19
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)
https://www.readbyqxmd.com/read/27638920/generation-of-human-induced-pluripotent-stem-cell-derived-bona-fide-neural-stem-cells-for-ex-vivo-gene-therapy-of-metachromatic-leukodystrophy
#20
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
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