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Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Sonja Blumenau, Mareike Thielke, Christa Josties, Dorette Freyer, Annette Dietrich, Monia Hammer, Michael Baier, Ulrich Dirnagl, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, Angela Hodges, John Hardy
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively...
February 2, 2018: Neurobiology of Aging
Qiu E Yang, Siham Rajab Agouri, Jonathan Mark Tyrrell, Timothy Rutland Walsh
The occurrence of heavy metal resistance genes in multi-resistant Enterobacteriaceae possessing bla NDM-1 or bla CTX-M-15 genes were examined by PCR and S1-PFGE. When compared with clinical susceptible isolates (10.0-30.0%), the pcoA, merA, silC and arsA genes occurred with higher frequencies in bla NDM-1 (48.8-71.8%) and bla CTX-M-15 (19.4-52.8%) positive isolates, and they are mostly located on plasmids. Given the high association of metal resistance genes with multidrug resistant Enterobacteriaceae, the use of heavy metals in hospitals and the environment needs increased vigilance...
March 5, 2018: Antimicrobial Agents and Chemotherapy
Elizabeth E Blue, Joshua C Bis, Michael O Dorschner, Debby W Tsuang, Sandra M Barral, Gary Beecham, Jennifer E Below, William S Bush, Mariusz Butkiewicz, Carlos Cruchaga, Anita DeStefano, Lindsay A Farrer, Alison Goate, Jonathan Haines, Jim Jaworski, Gyungah Jun, Brian Kunkle, Amanda Kuzma, Jenny J Lee, Kathryn L Lunetta, Yiyi Ma, Eden Martin, Adam Naj, Alejandro Q Nato, Patrick Navas, Hiep Nguyen, Christiane Reitz, Dolly Reyes, William Salerno, Gerard D Schellenberg, Sudha Seshadri, Harkirat Sohi, Timothy A Thornton, Otto Valadares, Cornelia van Duijn, Badri N Vardarajan, Li-San Wang, Eric Boerwinkle, Josée Dupuis, Margaret A Pericak-Vance, Richard Mayeux, Ellen M Wijsman
BACKGROUND/AIMS: The Alzheimer's Disease Sequencing Project (ADSP) aims to identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to cause dementias other than AD have previously been associated with AD risk. We describe evidence of co-segregation and associations between variants in dementia genes and clinically diagnosed AD within the ADSP. METHODS: We summarize the properties of known pathogenic variants within dementia genes, describe the co-segregation of variants annotated as "pathogenic" in ClinVar and new candidates observed in ADSP families, and test for associations between rare variants in dementia genes in the ADSP case-control study...
February 27, 2018: Dementia and Geriatric Cognitive Disorders
Supeeraya Arsa, Chockchai Theerakulkait
BACKGROUND: Rice bran is by-product obtained from the rice milling industry. The aims of this research were to add value of rice bran by preparation of enzymatic hydrolyzed rice bran protein concentrate (HRPC) as a flavoring agent and the flavoring which was produced by HRPC has not been discovered. Different drying methods (freeze drying and spray drying) and fructose additions were studied for improvement of rice bran protein sensorial aroma characteristics. RESULTS: the most abundant amino acids in liquid HRPC (LH) were glutamic acid, arginine, aspartic acid and leucine, respectively...
February 19, 2018: Journal of the Science of Food and Agriculture
David Couret, Aurélie Catan, Brice Nativel, Cynthia Planesse, Anne-Claire Dorsemans, Imade Ait-Arsa, Maxime Cournot, Alexy Tran-Dinh, Gilles Lambert, Nicolas Diotel, Olivier Meilhac
No abstract text is available yet for this article.
August 2017: Atherosclerosis
David Couret, Steeve Bourane, Aurélie Catan, Brice Nativel, Cynthia Planesse, Anne-Claire Dorsemans, Imade Ait-Arsa, Maxime Cournot, Philippe Rondeau, Jessica Patche, Alexy Tran-Dinh, Gilles Lambert, Nicolas Diotel, Olivier Meilhac
Clinical benefit for mechanical thrombectomy (MT) in stroke was recently demonstrated in multiple large prospective studies. Acute hyperglycemia (HG) is an important risk factor of poor outcome in stroke patients, including those that underwent MT. The aim of this therapy is to achieve a complete reperfusion in a short time, given that reperfusion damage is dependent on the duration of ischemia. Here, we investigated the effects of acute HG in a mouse model of ischemic stroke induced by middle cerebral artery occlusion (MCAO)...
December 26, 2017: Journal of Comparative Neurology
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
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...
October 2017: Genetics and Molecular Biology
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...
December 2017: European Journal of Vascular and Endovascular Surgery
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
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
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
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
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
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
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
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
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
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
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
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