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https://www.readbyqxmd.com/read/30006150/missense-mutation-of-spast-protein-i344k-results-in-loss-of-atpase-activity-and-prolonged-the-half-life-implicated-in-autosomal-dominant-hereditary-spastic-paraplegia
#1
Jung Hwa Lim, Hyun Mi Kang, Hong-Ryul Jung, Dae-Soo Kim, Kyung Hee Noh, Chang Tae Kyung, Byoung Joon Kim, Duk Hyun Sung, Hyun-Soo Cho, Kyung-Sook Chung, Nam-Soon Kim, Cho-Rok Jung
The spastin protein (SPAST) contains an ATPase with diverse cellular activities (AAA) domain and regulates microtubule dynamics. Missense mutations of the SPAST gene are frequently detected in patients with hereditary spastic paraplegias (HSPs) and represent the main reason of loss of SPAST function; however, the pathogenicity of mutant SPAST is heterogeneous. Here, SPAST variant with an I344K mutation (I344K-SPAST) was identified in a Korean family with autosomal dominant-type HSP. We investigated the role of the I344K-SPAST in HSP to provide a therapeutic mechanism...
July 10, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/30006003/geometric-surrogates-of-abdominal-aortic-aneurysm-wall-mechanics
#2
Jesús Urrutia, Anuradha Roy, Samarth S Raut, Raúl Antón, Satish C Muluk, Ender A Finol
The maximum diameter criterion is the most important factor in the clinical management of abdominal aortic aneurysms (AAA). Consequently, interventional repair is recommended when an aneurysm reaches a critical diameter, typically 5.0 cm in the United States. Nevertheless, biomechanical measures of the aneurysmal abdominal aorta have long been implicated in AAA risk of rupture. The purpose of this study is to assess whether other geometric characteristics, in addition to maximum diameter, may be highly correlated with the AAA peak wall stress (PWS)...
July 10, 2018: Medical Engineering & Physics
https://www.readbyqxmd.com/read/30004237/proteomic-analysis-of-aortic-smooth-muscle-cell-secretions-reveals-an-association-of-myosin-heavy-chain-11-with-abdominal-aortic-aneurysm
#3
Utako Yokoyama, Noriaki Arakawa, Ryo Ishiwata, Shota Yasuda, Tomoyuki Minami, Motohiko Goda, Keiji Uchida, Shinichi Suzuki, Masataka Matsumoto, Nobusato Koizumi, Masataka Taguri, Hisashi Hirano, Koichi Yoshimura, Hitoshi Ogino, Munetaka Masuda, Yoshihiro Ishikawa
Abdominal aortic aneurysm (AAA) is a life-threatening disease, and no disease-specific circulating biomarkers for AAA screening are currently available. We have identified a smooth muscle cell (SMC)-specific biomarker for AAA. We cultured aneurysmal tunica media that were collected from eight patients undergoing elective open-repair surgeries. Secreted proteins into culture medium were subjected to liquid chromatography/tandem mass spectrometry. Myosin heavy chain 11 (myosin-11) was identified as a SMC-specific protein in the tunica media-derived secretions of all patients...
July 13, 2018: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/30002758/short-term-outcomes-of-endovascular-repair-of-abdominal-aortic-aneurysm-including-ruptured-cases
#4
Piotr Kulig, Krzysztof Lewandowski, Bartłomiej Banaś, Piotr Piekorz, Andrzej Kostka, Maciej Zaniewski
Introduction: Endovascular aneurysm repair as a minimally invasive alternative has become a commonly used surgical method for treating patients with abdominal aortic aneurysm (AAA). Aim: To analyze short-term outcomes of endovascular treatment of AAA patients, including ruptured cases. Material and methods: From 2010 to 2015, 247 patients with AAA were treated using the endovascular aneurysm repair technique. A short-term analysis was conducted - up to 30 days after surgery...
June 2018: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/29995937/genome-wide-identification-and-characterization-of-the-ckii-gene-family-in-the-cultivated-banana-cultivar-musa-spp-cv-tianbaojiao-and-the-wild-banana-musa-itinerans
#5
Weihua Liu, Zhengchun Lin, Yanying Liu, Yuling Lin, XuHan Xu, Zhongxiong Lai
Plant casein kinase II (CKII) plays an essential role in regulating plant growth and development, and responses to biotic and abiotic stresses. Here, we report the identification and characterization of the CKII family genes in Musa spp. cv. 'Tianbaojiao' (AAA group) and the wild banana (Musa itinerans). The 13 cDNA sequences of the CKII family members were identified both in 'Tianbaojiao' and wild banana, respectively. The differences between CKII α and CKII β members are corroborated through the subcellular localizations, phosphorylation sites and gene structures...
2018: PloS One
https://www.readbyqxmd.com/read/29993480/prediction-of-abdominal-aortic-aneurysm-growth-using-dynamical-gaussian-process-implicit-surface
#6
Huan N Do, Ahsan Ijaz, Hamidreza Gharahi, Byron Zambrano, Jongeun Choi, Whal Lee, Seungik Baek
An Abdominal Aortic Aneurysm (AAA) is a form of vascular disease causing focal enlargement of the abdominal aorta. It affects a large part of the population, and in case of rupture, has up to 90% mortality rate. Recent clinical recom- mendations suggest that people with small aneurysms should be examined 3-36 months depending on the size, to monitor morphological changes. While advances in biomechanics provide state-of-the-art spatial estimates of stress distributions of AAAs, there are still limitations in modeling its time evolution and uncertainty qualification...
July 2, 2018: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/29989348/evaluation-on-the-genetic-instability-detecting-methods-for-rapid-diagnose-of-fanconi-anemia-used-in-the-undeveloped-areas-of-china
#7
Kaihua Ji, Yangyang Kong, Yang Liu, Yan Wang, Liqing Du, Chang Xu, Yuan Li, Fengkui Zhang, Xiaofan Zhu, Qiang Liu
INTRODUCTION: Fanconi anemia (FA), as one of the congenital bone marrow failure syndromes, is characterized by severe bone marrow hypocellularity and pancytopenia which is similar with acquired aplastic anemia (AAA). However, patients with FA or AAA need an accurate diagnose, as the two syndromes differ significantly in both treatment and prognosis. FA results from gene mutations of the FA pathway genes specifically required for DNA repair, and the mutation of these genes contributes to the genome instability of FA cells...
July 10, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29988820/applied-machine-learning-for-the-prediction-of-growth-of-abdominal-aortic-aneurysm-in-humans
#8
R Lee, D Jarchi, R Perera, A Jones, I Cassimjee, A Handa, D A Clifton
Objective: Accurate prediction of abdominal aortic aneurysm (AAA) growth in an individual can allow personalised stratification of surveillance intervals and better inform the timing for surgery. The authors recently described the novel significant association between flow mediated dilatation (FMD) and future AAA growth. The feasibility of predicting future AAA growth was explored in individual patients using a set of benchmark machine learning techniques. Methods: The Oxford Abdominal Aortic Aneurysm Study (OxAAA) prospectively recruited AAA patients undergoing the routine NHS management pathway...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29988290/aorto-enteric-fistula-after-endovascular-abdominal-aortic-aneurysm-repair-for-behcet-s-disease-patient-a-case-report
#9
Supapong Arworn, Saranat Orrapin, Bandhuphat Chakrabandhu, Termpong Reanpang, Jongkolnee Settakorn, Kamphol Laohapensang
Introduction: A 42 year old male with Behcet's disease (BD) had endovascular treatment of a symptomatic infrarenal abdominal aortic aneurysm (AAA). Thirteen months later he developed haematemesis and melaena. Methods: Computed tomography (CT) and angiography showed an aorto-enteric fistula with migration and kinking of the stent graft. Explantation of the infected graft and axillobifemoral bypass, aneurysm sac debridement, and jejunal repair with omental interposition was performed on this severely contaminated patient...
2018: EJVES Short Reports
https://www.readbyqxmd.com/read/29987710/gene-editing-the-phytoene-desaturase-alleles-of-cavendish-banana-using-crispr-cas9
#10
Fatima Naim, Benjamin Dugdale, Jennifer Kleidon, Anthony Brinin, Kylie Shand, Peter Waterhouse, James Dale
Bananas are a staple food source and a major export commodity worldwide. The Cavendish dessert banana is a triploid AAA genome type and accounts for around 47% of global production. Being essentially sterile, genetic modification is perhaps the only pathway available to improve this cultivar. In this study, we used the CRISPR/Cas9 gene editing system to deliver a self-cleaving polycistronic guide RNA (gRNA) designed to target exon 1 of the Phytoene desaturase (PDS) gene in the Cavendish cultivar "Williams"...
July 9, 2018: Transgenic Research
https://www.readbyqxmd.com/read/29985918/general-component-analysis-gca-a-new-approach-to-identify-chinese-corporate-bond-market-structures
#11
Lei Wang, Yan Yan, Xiaoteng Li, Xiaosong Chen
PCA has been widely used in many fields to detect dominant principle components, but it ignores the information embedded in the remaining components. As a supplement to PCA, we propose the General Component Analysis (GCA). The inverse participation ratios (IPRs) are used to identify the global components (GCs) and localized components (LCs). The mean values of the IPRs derived from the shuffled data are taken as the natural threshold, which is exquisite and novel. In this paper, the Chinese corporate bond market is analyzed as an example...
2018: PloS One
https://www.readbyqxmd.com/read/29981132/using-flow-cytometry-analysis-in-plant-tissue-culture-derived-plants
#12
Rosa María Escobedo-Gracia-Medrano, Martha Josefa Burgos-Tan, José Roberto Ku-Cauich, Adriana Quiroz-Moreno
Somaclonal variation (SC) in plants regenerated from tissue culture, via organogenesis or somatic embryogenesis, is frequently associated with abnormalities in the content of deoxyribonucleic acid (DNA), viz., aneuploidy and polyploidy. Flow cytometry (FCM) using the nucleic acid-specific fluorochrome propidium iodide has proven to be a rapid, simple, and reproducible technique for assessment of DNA content and ploidy variation occurring in plant tissue cultures. Here an outline of the sample preparation of suspension with intact nuclei by the two-step standard method, and FCM analysis of DNA ploidy stability in plants regenerated from embryogenic cell suspension (ECS) of banana Musa acuminata, AAA, cv...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29980782/aaa-to-screen-or-not-to-screen
#13
Alexandra Le Bras
No abstract text is available yet for this article.
July 6, 2018: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29980238/clinical-spectrum-and-genetic-landscape-for-hereditary-spastic-paraplegias-in-china
#14
En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen, Xiang Lin
BACKGROUND: Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both the clinical and mutational spectrum of Chinese patients with HSP remained unclear. In this study, we aim to perform a comprehensive analysis of clinical phenotypes and genetic distributions in a large cohort of Chinese HSP patients, and to elucidate the primary pathogenesis in this population...
July 6, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29978793/-application-of-combined-special-staining-in-the-observation-of-vascular-pathology
#15
Yan-Wei Li, Wei Wang, Shao-Shuai Mei, Fei Teng, Dong Chen
Objective To evaluate the value of combined special staining technique in observing pathological changes in blood vessels. Methods Totally 999 vascular specimen were harvested from patients with complete medical records,clear diagnosis,and age≥18 years in the Pathology Department of Beijing Anzhen Hospital from January 2014 to September 2017.All specimen were stained with HE,Verhoef-Van Gieson,AB/PAS,and Masson. Then,the result of HE staining was compared with that of the combined special staining (Verhoef-Van Gieson,AB/PAS,and Masson)...
June 28, 2018: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29977360/early-growth-response-factor-1-dna-enzyme-1-inhibits-the-formation-of-abdominal-aortic-aneurysm-in-rats
#16
Shi Wang, Haipeng Dong, Chengwei Liu, Guichao Xu, Xinhua Hu, Yichuan Fan, Liting Chen
The aim of the present study was to characterize the effects of early growth response factor-1 DNA enzyme (EDRz) in a rat abdominal aortic aneurysm (AAA) model to determine the mechanism by which EDRz inhibits AAA and affects the formation of AAA by regulating the activity of matrix metalloproteinase (MMP)-2 and MMP-9. EDRz was transfected into the abdominal aorta of rats using the jetPRIME transfection reagent following infusion with elastase. Fluorescent microscopy, hematoxylin and eosin staining, ultrastructural analysis, reverse transcription-quantitative polymerase chain reaction, western blotting and immunohistochemical analysis were performed to characterize the response to EDRz...
July 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29976759/high-density-lipoprotein-inhibits-serum-amyloid-a-mediated-reactive-oxygen-species-generation-and-nlrp3-inflammasome-activation
#17
Preetha Shridas, Maria C De Beer, Nancy R Webb
Serum amyloid A (SAA) is a high-density apolipoprotein whose plasma levels can increase more than 1000-fold during a severe acute-phase inflammatory response and are more modestly elevated in chronic inflammation. SAA is thought to play important roles in innate immunity, but its biological activities have not been completely delineated. We previously reported that SAA deficiency protects mice from developing abdominal aortic aneurysms (AAAs) induced by chronic angiotensin II (AngII) infusion. Here, we report that SAA is required for AngII-induced increases in interleukin-1 beta (IL-1β), a potent proinflammatory cytokine that is tightly controlled by the Nod-like receptor protein 3 (NLRP3) inflammasome and caspase-1 and has been implicated in both human and mouse AAAs...
July 5, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29973720/mechanism-for-remodelling-of-the-cell-cycle-checkpoint-protein-mad2-by-the-atpase-trip13
#18
Claudio Alfieri, Leifu Chang, David Barford
The maintenance of genome stability during mitosis is coordinated by the spindle assembly checkpoint (SAC) through its effector the mitotic checkpoint complex (MCC), an inhibitor of the anaphase-promoting complex (APC/C, also known as the cyclosome)1,2 . Unattached kinetochores control MCC assembly by catalysing a change in the topology of the β-sheet of MAD2 (an MCC subunit), thereby generating the active closed MAD2 (C-MAD2) conformer3-5 . Disassembly of free MCC, which is required for SAC inactivation and chromosome segregation, is an ATP-dependent process driven by the AAA+ ATPase TRIP13...
July 4, 2018: Nature
https://www.readbyqxmd.com/read/29971178/aortic-aneurysm-as-a-complication-of-granulomatosis-with-polyangiitis-successfully-treated-with-prednisolone-and-cyclophosphamide-a-case-report-and-review-of-the-literature
#19
Naoko Niimi, Tomoko Miyashita, Kana Tanji, Takuya Hirai, Kozo Watanabe, Keigo Ikeda, Shinji Morimoto, Iwao Sekigawa
A 57-year-old Japanese man was admitted to the hospital with back pain and fever, multiple lung nodules, and abdominal aortic aneurysm (AAA). Laboratory tests performed at admission showed an increased proteinase 3 anti-neutrophil cytoplasmic antibody (PR3-ANCA) level. Video-associated thoracoscopic lung biopsy was performed; pathologic examination showed granulation tissue with necrosis and multinucleated giant cells. The diagnosis of granulomatosis with polyangiitis (GPA) was confirmed on the basis of the clinical presentation, laboratory findings, and lung biopsy...
2018: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29970274/complex-endovascular-aneurysm-repair-is-associated-with-higher-perioperative-mortality-but-not-late-mortality-compared-with-infrarenal-endovascular-aneurysm-repair-among-octogenarians
#20
Kenneth Tran, Andy M Lee, Graeme E McFarland, Michael D Sgroi, Jason T Lee
OBJECTIVE: As our collective experience with complex endovascular aneurysm repair (EVAR) has grown, an increasing number of older patients are being offered endovascular repair of juxtarenal aneurysms. Outcomes after complex EVAR in this older subpopulation are not well-described. We sought to specifically evaluate clinical outcomes after complex EVAR compared with infrarenal EVAR in a cohort of octogenarians. METHODS: A single-center retrospective review was conducted using a database of consecutive patients treated with elective EVAR for abdominal aortic aneurysms (AAAs) between 2009 and 2015...
June 30, 2018: Journal of Vascular Surgery
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