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https://www.readbyqxmd.com/read/29131521/high-hsf4-expression-is-an-independent-indicator-of-poor-overall-survival-and-recurrence-free-survival-in-patients-with-primary-colorectal-cancer
#1
Yingchi Yang, Lan Jin, Jinghui Zhang, Jin Wang, Xiaomu Zhao, Guocong Wu, Hongwei Yao, Zhongtao Zhang
Heat shock factor 4 (HSF4) is a member of the HSF family. In this study, by using data from the Cancer Genome Atlas-Colorectal Cancer (TCGA-CRC), we investigated the expression profile and the prognostic value of the HSF4 in terms of overall survival (OS) and recurrence free survival (RFS) in CRC patients. RNA-Seq data showed that HSF4 RNA expression was significantly higher in CRC tissues (N = 380) than in the corresponding normal tissues (N = 51) (mean ± SD: 3.56 ± 1.28 vs. 1.85 ± 0...
November 13, 2017: IUBMB Life
https://www.readbyqxmd.com/read/29111560/identification-of-a-novel-mutation-in-arsa-gene-in-three-patients-of-an-iranian-family-with-metachromatic-leukodystrophy-disorder
#2
Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-Asl
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients...
November 6, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29089284/morphology-and-outcomes-of-total-endovascular-treatment-of-type-b-aortic-dissection-with-aberrant-right-subclavian-artery
#3
Min Zhou, Xueqin Bai, Yong Ding, Yonggang Wang, Changpo Lin, Dong Yan, Zhenyu Shi, Weiguo Fu
OBJECTIVES: To characterize the morphology of type B aortic dissection with aberrant right subclavian artery (ARSA) and present early and midterm outcomes of total endovascular treatment for affected patients. METHODS: From January 2010 to December 2015, patients with ARSA and type B aortic dissection treated with total endovascular techniques were enrolled. The angle of the aortic arch was measured on pre-operative CTA. Sixty age and gender matched normal aortic arch patients with type B aortic dissection served as controls...
October 28, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28993035/outcomes-of-hybrid-procedure-for-type-b-aortic-dissection-with-an-aberrant-right-subclavian-artery
#4
Huanyu Ding, Songyuan Luo, Yuan Liu, Wenhui Huang, Minchun Jiang, Jie Li, Nianjin Xie, Xiaoping Fan, Ruixin Fan, Jianfang Luo
OBJECTIVE: To report our single-center experience of the hybrid procedure for type B aortic dissection (TBAD) with an aberrant right subclavian artery (ARSA) and the early to midterm outcomes in these patients. METHODS: From December 2011 to February 2016, 16 patients (12 males; median age, 51 years; range, 40-66 years) underwent thoracic endovascular aortic repair and extraanatomic bypass hybrid procedure for TBAD with an ARSA in our center. Demographics, coexisting medical conditions, imaging features, operation details, and follow-up outcomes of these patients were collected retrospectively and analyzed...
October 6, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28947643/il-1%C3%AE-is-critical-for-resistance-against-highly-virulent-aspergillus-fumigatus-isolates
#5
Alayna K Caffrey-Carr, Caitlin H Kowalski, Sarah R Beattie, Nathan A Blaseg, Chanell R Upshaw, Arsa Thammahong, Hannah E Lust, Yi-Wei Tang, Tobias M Hohl, Robert A Cramer, Joshua J Obar
Heterogeneity amongst Aspergillus fumigatus isolates results in unique virulence potential and inflammatory responses. How these isolates drive specific immune responses and how this affects fungal-induced lung damage and disease outcome is unresolved. We demonstrate that the highly virulent CEA10 strain is able to rapidly germinate within the immune competent lung environment inducing greater lung damage, vascular leakage, and IL-1α release compared to the low virulent Af293 strain that germinates with lower frequency in this environment...
September 25, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28923328/mutation-frequency-of-three-neurodegenerative-lysosomal-storage-diseases-from-screening-to-treatment
#6
Ana Joana Duarte, Diogo Ribeiro, Pedro Oliveira, Olga Amaral
BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence...
April 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28902927/bradykinin-insulin-and-glycemia-responses-to-exercise-performed-above-and-below-lactate-threshold-in-individuals-with-type-2-diabetes
#7
RANDOMIZED CONTROLLED TRIAL
R Y Asano, R A V Browne, M M Sales, G Arsa, J F V N Moraes, H J Coelho-Júnior, M R Moraes, I Oliveira-Silva, S E Atlas, J E Lewis, H G Simões
The aim of this study was to analyze the acute responses of bradykinin, insulin, and glycemia to exercise performed above and below lactate threshold (LT) in individuals with type 2 diabetes mellitus (T2D). Eleven participants with a diagnosis of T2D randomly underwent three experimental sessions 72 h apart: 1) 20 min of exercise performed at 120% of LT (120%LT), 2) 20 min of exercise performed at 80% of LT (80%LT), and 3) 20 min of control session. Blood glucose was analyzed before, during, and at 45 min post-exercise...
September 12, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28799099/metachromatic-leukodystrophy-mld-a-pakistani-family-with-novel-arsa-gene-mutation
#8
Muhammad Aiman Shahzad, Saba Khaliq, Ali Amar, Saqib Mahmood
A deficiency of the enzyme arylsulfatase A (ARSA) causes a progressive neurodegenerative lysosomal storage disease known as metachromatic leukodystrophy (MLD). Diagnosis is based on the onset of neurological symptoms, presence of gait abnormalities, spasticity, decreased muscle stretch reflexes and neuro-radiological evidence of demyelination. The purpose of the present study was to identify any mutation in the candidate ARSA gene in a family of late infantile MLD patients. The diagnosis of suspected MLD patients was confirmed by a MRI report and low ARSA enzymatic activity in leukocytes...
September 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28762252/enzymatic-characterization-of-novel-arylsulfatase-a-variants-using-human-arylsulfatase-a-deficient-immortalized-mesenchymal-stromal-cells
#9
Judith Böhringer, René Santer, Neele Schumacher, Friederike Gieseke, Kerstin Cornils, Maria Pechan, Birgit Kustermann-Kuhn, Rupert Handgretinger, Ludger Schöls, Klaus Harzer, Ingeborg Krägeloh-Mann, Ingo Müller
Metachromatic leukodystrophy (MLD) is an autosomal-recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological dysfunction, and reduced life expectancy. To date, more than 200 different ARSA variants have been reported in MLD patients. Here, we report the biochemical characterization of seven novel pathogenic variants (c.98T > C, c.195delC, c...
November 2017: Human Mutation
https://www.readbyqxmd.com/read/28755160/successful-video-assisted-thoracoscopic-surgery-in-prone-position-in-patients-with-esophageal-cancer-and-aberrant-right-subclavian-artery-report-of-three-cases
#10
Koji Shindo, Eishi Nagai, Toshinaga Nabae, Toru Eguchi, Taiki Moriyama, Kenoki Ohuchida, Tatsuya Manabe, Takao Ohtsuka, Yoshinao Oda, Makoto Hashizume, Masafumi Nakamura
BACKGROUND: An aberrant right subclavian artery (ARSA) with an associated nonrecurrent right inferior laryngeal nerve (NRILN) is a relatively rare anomaly that occurs at a frequency of 0.3 to 2.0% of the general population. NRILN has been mainly documented in the head and neck region; it has been rarely described in patients with esophageal cancer, especially those undergoing thoracoscopic surgery. Video-assisted thoracoscopic surgery for esophageal cancer (VATS-E) is becoming more widespread as a reliable minimally invasive surgical procedure associated with reduced perioperative complications...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28671660/acute-and-chronic-models-of-hyperglycemia-in-zebrafish-a-method-to-assess-the-impact-of-hyperglycemia-on-neurogenesis-and-the-biodistribution-of-radiolabeled-molecules
#11
Anne-Claire Dorsemans, Christian Lefebvre d'Hellencourt, Imade Ait-Arsa, Emmanuelle Jestin, Olivier Meilhac, Nicolas Diotel
Hyperglycemia is a major health issue that leads to cardiovascular and cerebral dysfunction. For instance, it is associated with increased neurological problems after stroke and is shown to impair neurogenic processes. Interestingly, the adult zebrafish has recently emerged as a relevant and useful model to mimic hyperglycemia/diabetes and to investigate constitutive and regenerative neurogenesis. This work provides methods to develop zebrafish models of hyperglycemia to explore the impact of hyperglycemia on brain cell proliferation under homeostatic and brain repair conditions...
June 26, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28670130/four-novel-arsa-gene-mutations-with-pathogenic-impacts-on-metachromatic-leukodystrophy-a-bioinformatics-approach-to-predict-pathogenic-mutations
#12
Masoumeh Dehghan Manshadi, Behnam Kamalidehghan, Omid Aryani, Elham Khalili, Sepideh Dadgar, Mahdi Tondar, Fatemeh Ahmadipour, Goh Yong Meng, Massoud Houshmand
Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the ARSA gene in 12 non-consanguineous MLD patients and 40 healthy individuals was examined using polymerase chain reaction sequencing. Furthermore, the structural and functional effects of new mutations on ARSA were analyzed using SIFT (sorting intolerant from tolerant), I-Mutant 2, and PolyPhen bioinformatics software...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28667691/subacute-demyelinating-peripheral-neuropathy-as-a-novel-presentation-of-late-infantile-metachromatic-leukodystrophy
#13
Hernan D Gonorazky, Kimberly Amburgey, Grace Yoon, Jiri Vajsar, Elysa Widjaja, James J Dowling
No abstract text is available yet for this article.
July 1, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28618053/association-of-aberrant-right-subclavian-artery-with-abnormal-karyotype-and-microarray-results
#14
Ran Svirsky, Adi Reches, Dana Brabbing-Goldstein, Anat Bar-Shira, Yuval Yaron
OBJECTIVES: The objective of this study is 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, except for 2 samples for which only karyotype and fluorescence in situ hybridization 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
#15
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
#16
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
#17
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
#18
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
#19
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 repair as the primary modality for aortic repair for BTAI, reports of this technique in the setting of ARSA are limited. Here we describe 3 patients with ARSA who underwent TEVAR for BTAI, and discuss critical management and technical issues in these patients...
April 6, 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
#20
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
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