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https://www.readbyqxmd.com/read/28102838/autophagy-dysregulation-in-danon-disease
#1
Anna Chiara Nascimbeni, Marina Fanin, Corrado Angelini, Marco Sandri
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally referred to as autophagic vacuolar myopathies (AVMs). Among them, Danon Disease (DD) and glycogen storage disease type II (GSDII) are due to primary lysosomal protein defects. DD is characterized by mutations in the lysosome-associated membrane protein 2 (LAMP2) gene. The DD mouse model suggests that inefficient lysosome biogenesis/maturation and impairment of autophagosome-lysosome fusion contribute to the pathogenesis of muscle wasting...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28059706/the-prevalence-of-malformations-of-cortical-development-in-a-pediatric-hereditary-hemorrhagic-telangiectasia-population
#2
G J Palagallo, S R McWilliams, L A Sekarski, A Sharma, M S Goyal, A J White
BACKGROUND AND PURPOSE: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS: A retrospective review of brain MRIs from 116 pediatric patients was performed...
November 10, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28054837/radiosurgery-alters-the-endothelial-surface-proteome-externalized-intracellular-molecules-as-potential-vascular-targets-in-irradiated-brain-arteriovenous-malformations
#3
Lucinda S McRobb, Vivienne S Lee, Margaret Simonian, Zhenjun Zhao, Santhosh George Thomas, Markus Wiedmann, Jude V Amal Raj, Michael Grace, Vaughan Moutrie, Matthew J McKay, Mark P Molloy, Marcus A Stoodley
Stereotactic radiosurgery (SRS) is an established treatment for brain arteriovenous malformations (AVMs) that drives blood vessel closure through cellular proliferation, thrombosis and fibrosis, but is limited by a delay to occlusion of 2-3 years and a maximum treatable size of 3 cm. In this current study we used SRS as a priming tool to elicit novel protein expression on the endothelium of irradiated AVM vessels, and these proteins were then targeted with prothrombotic conjugates to induce rapid thrombosis and vessel closure...
January 5, 2017: Radiation Research
https://www.readbyqxmd.com/read/28050516/high-flow-av-malformation-a-v-shunt-of-mandible-a-rare-life-threatening-entity
#4
Sanat Kumar Bhuyan, Krishna Gopal Birmiwal, Indu Bhusan Kar, Ruchi Bhuyan, Priyanka Debta
Intraosseous Arteriovenous Malformations (AVMs) in the head and neck region are very rare and potentially life threatening entities due to massive hemorrhage. These are the results of an embryonic abnormality of the vascular system. Depending on the blood flow and clinical presentations they are of different types like slow flow and high flow AVM. Here we present a case of high flow AVM involving mandible with a chief complain of gingival bleeding in a four year old girl child.
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28050436/symptomatic-granuloma-secondary-to-embolic-agent-a-case-report
#5
Prashant Gunawat, Salman Tehran Shaikh, Vikram Karmarkar, Chandrashekhar Deopujari
Onyx is a liquid embolic agent presently gaining wide acceptance for embolisation of multiple vascular cranial pathologies like Arteriovenous Malformation (AVM) and Arteriovenous Fistula (AVF). Onyx stays in the nidus of vascular pathology and initiates inflammatory response leading to thrombosis and subsequently resulting in occlusion of vascular nidus. However, if onyx spills into the surrounding brain tissue, reaction occurs in the form of foreign body inflammatory reaction. This is one of the very few cases in literature whereby embolisation of AVM with onyx lead to granuloma formation which needed surgical excision...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28049610/application-of-fluorescein-sodium-videoangiography-in-surgery-for-spinal-arteriovenous-malformation
#6
Basant K Misra, Saurav K Samantray, Omkar N Churi
We present our recent experience with fluorescein sodium videoangiography (FLVA) in the intra-operative evaluation of a patient with conus medullaris arteriovenous malformation (AVM). To our knowledge this is the first report in the literature of use of FLVA in the surgery of spinal AVM. Intra-operative FLVA was done to identify an early filling vessel and to obliterate the site of fistulous connection. This was correlated and confirmed with simultaneous indocyanine green videoangiography (ICGVA). The conus and cauda equina roots could be appreciated and manipulated in relation to this fluorescence...
December 31, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28048781/su-f-t-141-proton-dose-validation-in-a-phantom-beyond-trufill-n-bca-embolization-glue
#7
A Mandapaka, A Ghebremedhin, B Patyal, Loma Linda
PURPOSE: To validate the treatment planning system predicted proton dose beyond a heterogeneity (n-BCA glue) by making a measurement in a custom acrylic phantom. METHODS: A custom cubic acrylic phantom was designed for this experiment. A container was designed to fit in the phantom. This container was filled with TRUFILL™ n-Butyl Cyanoacrylate(n-BCA) glue. When the container was placed in the phantom, its center was at a distance of 7.4cm from the entrance. This depth allows us to make measurements around the center of modulation of a 126 MeV proton beam with a 3cm spread-out-Bragg peak...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047666/su-f-t-651-dosimetric-impact-of-patient-setup-rotational-errors-for-multi-staged-large-avm-gammaknife-radiosurgery
#8
C Ding, B Hrycushko, R Abdulrahman, L Whitworth, S Jiang, R Timmerman
PURPOSE: Multi-staged large AVM (>10 cm3 or diameter > 3 cm) Gammaknife radiosurgery requires setting up the patient based on a pre-treatment plan over several fractions. Residual rotational errors cannot be compensated by translational repositioning of the patient and may adversely impact the dose distribution on the total AVM target. This study evaluates the effect of residual rotational setup error. METHODS: The total AVM target was contoured and split into several small sub-targets...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28043331/avermectin-induced-global-dna-hypomethylation-and-over-expression-of-heat-shock-proteins-in-cardiac-tissues-of-pigeon
#9
Ci Liu, Ye Cao, Shuo Zhou, Pervez Ahmed Khoso, Shu Li
Despite increasing evidences pointing to residues of avermectin (AVM) pose toxic effects on non-target organisms in environment, but the data in pigeon is insufficient. The alteration of global DNA methylation and response of heat shock proteins (Hsps) are important for assessing the AVM toxicity in cardiac tissues of pigeon (Columba livia). To investigate the effects of AVM exposure in cardiac tissues of pigeon, we detected the expression levels of DNA methyltransferases (Dnmts), methylated DNA-binding domain protein 2 (MBD2), and Hsp 60, 70 and 90...
January 2017: Pesticide Biochemistry and Physiology
https://www.readbyqxmd.com/read/28042014/microsurgical-outcome-of-unruptured-brain-arteriovenous-malformations-a-single-center-experience
#10
Xianzeng Tong, Jun Wu, Yong Cao, Yuanli Zhao, Shuo Wang, Jizong Zhao
OBJECTIVE: We aimed to describe our single-center experience in treating unruptured brain arteriovenous malformations (uBAVMs) with microsurgical treatment. METHODS: During a 7-year period, 282 patients with uBAVMs were surgically treated at our institution. Patient clinical features, post-surgical complications, AVM obliteration rate, seizure control and functional outcome were collected and analyzed. Seizure control was evaluated with the Engel Seizure Outcome Scale...
December 29, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28031647/are-congenital-arteriovenous-malformations-of-proximal-upper-extremity-more-on-the-right-case-report-and-literature-review
#11
Satyen Parida, Sumanlata Gupta, B V Sai Chandran
This is a case of a 9-year-old boy with a congenital arteriovenous malformation (AVM) of the right upper extremity arising from the right subclavian artery. He underwent open surgical excision of the vascular tumor. Upon reviewing the literature, a high incidence of right-sided congenital AVM of the proximal upper extremity was identified. It has been suggested that this high incidence may be related to the complexity of the embryologic development of the right subclavian artery.
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28017742/embolization-followed-by-radiosurgery-for-the-treatment-of-brain-arteriovenous-malformations-avms
#12
Michael P Marks, Mary L Marcellus, Justin Santarelli, Robert L Dodd, Huy M Do, Steven D Chang, John R Adler, Michael Mlynash, Gary K Steinberg
BACKGROUND: Embolization has been proposed to reduce the size of the AVM nidus in advance of radiosurgical treatment. However, embolization followed by radiosurgery for brain AVMs is controversial. OBJECTIVE: This study assessed the impact of embolization on nidal size prior to radiosurgical treatment and evaluated cure rates and complications using embolization followed by radiosurgery. METHODS: Retrospective review of our institutional AVM database identified 91 patients treated from 1995-2009 with embolization followed by radiosurgery...
December 22, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28011359/detection-of-a-rare-complication-of-endovascular-treatment-for-brain-avm-by-echocardiography
#13
Mozhgan Parsaee, Sedigheh Saedi, Sepideh Emami, Alireza Serati
A brain arteriovenous malformation (AVM) is a congenital malformation of the vascular system, in which an abnormal short circuit (vascular malformation) connects cerebral arteries and veins. When the brain AVMs are diagnosed, the majority of them must be closed with surgical or endovascular treatment; because only a small portion of the brain AVMs remain asymptomatic during the patient's life. Endovascular trans-arterial embolization using Onyx is a suitable method of treating brain AVMs. Previously known complications of onyx usage are bleeding and neurologic deficits...
December 21, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28009020/the-relationship-of-cortical-folding-and-brain-arteriovenous-malformations
#14
Manish N Shah, Sarah E Smith, Donna L Dierker, Joseph P Herbert, Timothy S Coalson, Brent S Bruck, Gregory J Zipfel, David C Van Essen, Ralph G Dacey
BACKGROUND: The pathogenesis of human intracranial arteriovenous malformations (AVMs) is not well understood; this study aims to quantitatively assess cortical folding in patients with these lesions. METHODS: Seven adult participants, 4 male and 3 female, with unruptured, surgically unresectable intracranial AVMs were prospectively enrolled in the study, with a mean age of 42.1 years and Spetzler-Martin grade range of II-IV. High-resolution brain MRI T1 and T2 sequences were obtained...
2016: Neurovasc Imaging
https://www.readbyqxmd.com/read/28001255/giant-scalp-arteriovenous-malformation
#15
Paulo Valdeci Worm, Leonardo Gilmone Ruschel, Marcelo Rosa Roxo, Rafael Camelo
Arteriovenous malformations (AVMs) of the scalp are rare lesions. The clinical picture presents with complaints of increased scalp, scalp disfigurement, pain and neurological symptoms. Its origin can be congenital or traumatic. We present a case of giant scalp AVMs and its management, followed by a brief literature review on the subject. The diagnosis of scalp AVMs is based on physical examination and confirmed by internal and external carotid angiography or computed tomographic angiography (CTA). Surgical excision is especially effective in scalp AVMs, and is the most frequently used treatment modality...
December 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27999914/a-retrograde-transvenous-embolization-technique-with-balloon-assisted-arterial-aspiration-for-a-peripheral-arteriovenous-malformation-with-a-venous-pouch
#16
Asako Kuhara, Norimitsu Tanaka, Masamichi Koganemaru, Tomoko Kugiyama, Kensuke Kiyokawa, Toshi Abe
Management of arteriovenous malformations (AVMs) is challenging, and there is no consensus regarding either the ideal approach or the treatment timing. Percutaneous embolization is the most frequent approach currently used and is considered the first-line technique for AVMs. There is an ongoing discussion about the best technical approach to embolize AVMs. AVMs associated with a dominant outflow vein (DOV) are rare. Embolization of both the DOV and the nidus is considered more effective. Herein, we report a novel technique of transvenous embolization of a DOV under negative pressure from an arterial balloon catheter in a case of a peripheral AVM...
December 20, 2016: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27999714/hypervascular-glioblastoma-multiforme-or-arteriovenous-malformation-associated-glioma-a-diagnostic-and-therapeutic-challenge-a-case-report
#17
Laura-Nanna Lohkamp, Christian Strong, Rafael Rojas, Matthew Anderson, Yosef Laviv, Ekkehard M Kasper
BACKGROUND: Simultaneous presentation of arteriovenous malformation (AVM) and glioblastoma multiforme (GBM) is rarely reported in the literature and needs to be differentiated from "angioglioma", a highly vascular glioma and other differential diagnosis such as hypervascular glioblastoma. Incorporating critical features of both, malignant glioma and AVM, such lesions lack a standard algorithm for diagnosis and therapy due to their rare incidence as well as their complex radiological and highly individualized clinical presentation...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27991438/limitations-of-analytical-dose-calculations-for-small-field-proton-radiosurgery
#18
Changran Geng, Juliane Daartz, Kimberley Lam-Tin-Cheung, Marc Bussiere, Helen A Shih, Harald Paganetti, Jan Schuemann
The purpose of the work was to evaluate the dosimetric uncertainties of an analytical dose calculation engine and the impact on treatment plans using small fields in intracranial proton stereotactic radiosurgery (PSRS) for a gantry based double scattering system. 50 patients were evaluated including 10 patients for each of 5 diagnostic indications of: arteriovenous malformation (AVM), acoustic neuroma (AN), meningioma (MGM), metastasis (METS), and pituitary adenoma (PIT). Treatment plans followed standard prescription and optimization procedures for PSRS...
January 7, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/27932749/-hemorrhage-from-an-angiographically-obliterated-arteriovenous-malformation-after-gamma-knife-radiosurgery-an-immunohistochemistry-study
#19
Saori Hamada, Daina Kashiwazaki, Tetsuhiro Kamo, Takahiro Tomita, Naoki Akioka, Naoya Kuwayama, Satoshi Kuroda
A 24-year-old woman was diagnosed with a cerebral arteriovenous malformation(AVM)in the right parietal lobe(Spetzler-Martin grade I). The AVM was treated with stereotactic radiosurgery and was observed to have completely disappeared 3 years after radiosurgery. At the age of 35 years, the patient complained of a headache, and was referred to our hospital. A plain CT scan demonstrated a large cyst with niveau formation in the right parietal lobe. Cerebral angiography identified no recurrence of AVM. However, contrast MRI revealed an enhanced lesion on the surface of the cyst...
December 2016: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#20
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
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