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Telangiectasia

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https://www.readbyqxmd.com/read/28743113/pulmonary-hypertension-in-a-large-cohort-with-hereditary-hemorrhagic-telangiectasia
#1
Veronique Vorselaars, Sebastiaan Velthuis, Marco van Gent, Cornelis Westermann, Repke Snijder, Johannes Mager, Martijn Post
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. OBJECTIVE: To assess the estimated prevalence of PH in patients with HHT compared to HHT-negative controls. METHODS: All consecutive subjects screened for HHT with available genetic testing and echocardiography-based peak tricuspid regurgitation velocity (TRV) measurement were included...
July 26, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28732227/atm-supports-gammaherpesvirus-replication-by-attenuating-type-i-interferon-pathway
#2
Eric J Darrah, Kyle P Stoltz, Mitchell Ledwith, Vera L Tarakanova
Ataxia-Telangiectasia mutated (ATM) kinase participates in multiple networks, including DNA damage response, oxidative stress, and mitophagy. ATM also supports replication of diverse DNA and RNA viruses. Gammaherpesviruses are prevalent cancer-associated viruses that benefit from ATM expression during replication. This proviral role of ATM had been ascribed to its signaling within the DNA damage response network; other functions of ATM have not been considered. In this study increased type I interferon (IFN) responses were observed in ATM deficient gammaherpesvirus-infected macrophages...
July 18, 2017: Virology
https://www.readbyqxmd.com/read/28729543/evaluation-of-atm-heterozygous-mutations-underlying-individual-differences-in-radiosensitivity-using-genome-editing-in-human-cultured-cells
#3
Ekaterina Royba, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Kosuke Hosoba, Hiroshi Tauchi, Yoshiki Kudo, Satoshi Tashiro, Takashi Yamamoto, Shinya Matsuura
Ionizing radiation (IR) induces DNA double-strand breaks (DSBs), which are an initial step towards chromosomal aberrations and cell death. It has been suggested that there are individual differences in radiosensitivity within human populations, and that the variations in DNA repair genes might determine this heterogeneity. However, it is difficult to quantify the effect of genetic variants on the individual differences in radiosensitivity, since confounding factors such as smoking and the diverse genetic backgrounds within human populations affect radiosensitivity...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28728169/correlations-between-macular-skin-and-serum-carotenoids
#4
Christopher D Conrady, James P Bell, Brian M Besch, Aruna Gorusupudi, Kelliann Farnsworth, Igor Ermakov, Mohsen Sharifzadeh, Maia Ermakova, Werner Gellermann, Paul S Bernstein
Purpose: Ocular and systemic measurement and imaging of the macular carotenoids lutein and zeaxanthin have been employed extensively as potential biomarkers of AMD risk. In this study, we systematically compare dual wavelength retinal autofluorescence imaging (AFI) of macular pigment with skin resonance Raman spectroscopy (RRS) and serum carotenoid levels in a clinic-based population. Methods: Eighty-eight patients were recruited from retina and general ophthalmology practices from a tertiary referral center and excluded only if they did not have all three modalities tested, had a diagnosis of macular telangiectasia (MacTel) or Stargardt disease, or had poor AFI image quality...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28727884/oct-angiography-and-ellipsoid-zone-mapping-of-macular-telangiectasia-type-2-from-the-avatar-study
#5
Anne P Runkle, Peter K Kaiser, Sunil K Srivastava, Andrew P Schachat, Jamie L Reese, Justis P Ehlers
Purpose: To evaluate alterations on optical coherence tomography angiography (OCT-A) and quantitatively assess alterations in the ellipsoid zone (EZ) in eyes with macular telangiectasia type 2 (MacTel type 2). Methods: The Observational Assessment of Visualizing and Analyzing Vessels With Optical Coherence Tomography Angiography in Retinal Diseases study is an institutional review board-approved prospective, observational study investigating OCT-A in macular disease...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28724653/haplodeficiency-of-ataxia-telangiectasia-mutated-accelerates-heart-failure-after-myocardial-infarction
#6
Lixin Jia, Wenmei Zhang, Youcai Ma, Boya Chen, Yan Liu, Chunmei Piao, Yuan Wang, Min Yang, Tingting Liu, Junmeng Zhang, Taotao Li, Shaoping Nie, Jie Du
BACKGROUND: Cell senescence is involved in the process of organ damage and repair; however, the underlying molecular mechanism needs to be further explored. METHODS AND RESULTS: Senescence-related genes (ie, p21, p53, and ataxia telangiectasia mutated [ATM]) were shown to be elevated after myocardial infarction (MI) in both mouse and human hearts. Ten- to 12-week-old male wild-type littermates (ATM(+/+)) and ATM heterozygous mice (ATM(+/-)) were subjected to MI...
July 19, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28716646/pulmonary-infarction-in-the-beginning
#7
Peter B Terry, Philip Clay Buescher
BACKGROUND: Massive pulmonary emboli can cause abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of pulmonary infarction symptoms is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. METHODS: We examined the records of fifty six patients with Hereditary Hemorrhagic Telangiectasia (HHT) undergoing therapeutic balloon embolization of pulmonary arteriovenous malformations (PAVM's) in a single center after noting that some developed symptoms and signs compatible with pulmonary infarction...
July 14, 2017: Chest
https://www.readbyqxmd.com/read/28716242/a-novel-pathogenic-variant-in-an-iranian-ataxia-telangiectasia-family-revealed-by-next-generation-sequencing-followed-by-in-silico-analysis
#8
Mohammad Amin Tabatabaiefar, Paria Alipour, Azam Pourahmadiyan, Najmeh Fattahi, Laleh Shariati, Neda Golchin, Javad Mohammadi-Asl
Ataxia telangiectasia (A-T) is a neurodegenerative autosomal recessive disorder with the main characteristics of progressive cerebellar degeneration, sensitivity to ionizing radiation, immunodeficiency, telangiectasia, premature aging, recurrent sinopulmonary infections, and increased risk of malignancy, especially of lymphoid origin. Ataxia Telangiectasia Mutated gene, ATM, as a causative gene for the A-T disorder, encodes the ATM protein, which plays an important role in the activation of cell-cycle checkpoints and initiation of DNA repair in response to DNA damage...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714848/hepatitis-b-virus-x-protein-activates-e3-ubiquitin-ligase-siah-1-to-control-virus-propagation-via-a-negative-feedback-loop
#9
Sujeong Yeom, Soo Shin Kim, Hyerin Jeong, Kyung Lib Jang
The seven in absentia homologue 1 (Siah-1) protein is an E3 ubiquitin ligase that induces ubiquitin-dependent proteasomal degradation of HBx, the principal regulatory protein of hepatitis B virus (HBV); however, its role in HBV propagation remains unknown. Here, we found that HBx upregulates Siah-1 levels in HepG2 but not in Hep3B cells, in which p53 is absent. For this effect, HBx sequentially activated ataxia telangiectasia mutated kinase and checkpoint kinase 2 via phosphorylation at the Ser-1981 and Thr-68 residues, respectively, which led to the activation of p53 via phosphorylation at the Ser-15 and Ser-20 residues...
July 17, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28710345/deletion-of-the-b-b-and-c-c-regions-of-inverted-terminal-repeats-reduces-raav-productivity-but-increases-transgene-expression
#10
Qingzhang Zhou, Wenhong Tian, Chunguo Liu, Zhonghui Lian, Xiaoyan Dong, Xiaobing Wu
Inverted terminal repeats (ITRs) of the adeno-associated virus (AAV) are essential for rescue, replication, packaging, and integration of the viral genome. While ITR mutations have been identified in previous reports, we designed a new truncated ITR lacking the B-B' and C-C' regions named as ITRΔBC and investigated its effects on viral genome replication, packaging, and expression of recombinant AAV (rAAV). The packaging ability was compared between ITRΔBC rAAV and wild-type (wt) ITR rAAV. Our results showed the productivity of ITRΔBC rAAV was reduced 4-fold, which is consistent with the 8-fold decrease in the replication of viral genomic DNA of ITRΔBC rAAV compared with wt ITR rAAV...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28707144/efficacy-and-safety-of-argon-plasma-coagulation-in-the-management-of-extensive-chronic-radiation-proctitis-after-pelvic-radiotherapy-for-cervical-carcinoma
#11
Shyama Prem Sudha, D Kadambari
INTRODUCTION: Chronic radiation proctitis (CRP) usually develops 90 days or more after radiation. Currently, there is no standard available for the treatment of CRP. In argon plasma coagulation, monopolar diathermy is used to ionise the argon gas which coagulates the telengiectatic vessels in a noncontact fashion. However, there are very few studies which have reported its use in extensive CRP. We report the efficacy and safety of APC in seven patients with recurrent, extensive grade 3 radiation proctitis...
July 13, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28705275/telangiectasia-macularis-eruptiva-perstans-report-of-three-cases
#12
Gizem Tumer, Tiffany Jow, Sean McElligott, Robert A Schwartz, W Clark Lambert
Telangiectasia macularis eruptiva perstans (TMEP) is a rare, heterogeneous disease of mast cell proliferation. The variable clinical presentation of TMEP, coupled with its rarity, makes the recognition and diagnosis of this disease difficult and challenging for clinicians. The histopathologic findings with hematoxylin and eosin staining that distinguish TMEP from a normal skin biopsy can be so subtle that confirmation of the diagnosis with additional special stains (c-Kit, Giemsa, toluidine blue) is strongly recommended...
2017: Skinmed
https://www.readbyqxmd.com/read/28701397/b-cell-specific-atm-expression-promotes-chronic-gammaherpesvirus-infection
#13
Eric J Darrah, Joseph M Kulinski, Wadzanai P Mboko, Gang Xin, Laurent P Malherbe, Stephen B Gauld, Weiguo Cui, Vera L Tarakanova
Manipulation of host cellular pathways is a strategy employed by gammaherpesviruses, including mouse gammaherpesvirus 68 (MHV68), in order to negotiate a chronic infection. Ataxia-telangiectasia mutated (ATM) plays a unique yet incompletely understood role in gammaherpesvirus infection as it has both proviral and antiviral effects. Chronic gammaherpesvirus infection is poorly controlled in the host with global ATM insufficiency, whether the host is a mouse or a human. In contrast, ATM facilitates replication, reactivation, and latency establishment of several gammaherpesviruses in vitro, suggesting that ATM is proviral in the context of infected cell cultures...
July 12, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28698541/ataxia-telangiectasia-in-siblings-oral-motor-and-swallowing-characterization
#14
Silmara Rondon-Melo, Isabel Junqueira de Almeida, Claudia Regina Furquim de Andrade, Fernanda Chiarion Sassi, Daniela Regina Molini-Avejonas
BACKGROUND The body of literature on oral motor and swallowing disorders in patients with ataxia telangiectasia (AT) is limited. CASE REPORT The purpose of this study was to characterize oral motor and swallowing disorders in two siblings with AT, based on oral motor and swallowing assessments. Specific procedures were applied for oral motor and swallowing assessments and both patients underwent videofluoroscopy (VFS). Case 1 presented vocal instability, change in postural control during feeding; food retention in oral cavity; slower oral transit time; and multiple swallowing (signs for solid and liquid)...
July 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28697853/inhibition-of-ataxia-telangiectasia-related-3-atr-improves-therapeutic-index-in-preclinical-models-of-non-small-cell-lung-cancer-nsclc-radiotherapy
#15
Victoria Dunne, Mihaela Ghita, Donna M Small, Caroline B M Coffey, Sinead Weldon, Clifford C Taggart, Sarah O Osman, Conor K McGarry, Kevin M Prise, Gerard G Hanna, Karl T Butterworth
BACKGROUND AND PURPOSE: To evaluate the impact of ATR inhibition using AZD6738 in combination with radiotherapy on the response of non-small cell lung cancer (NSCLC) tumour models and a murine model of radiation induced fibrosis. MATERIALS AND METHODS: AZD6738 was evaluated as a monotherapy and in combination with radiation in vitro and in vivo using A549 and H460 NSCLC models. Radiation induced pulmonary fibrosis was evaluated by cone beam computed tomography (CBCT) and histological staining...
July 8, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28696852/imaging-of-pregnancy-related-vascular-complications
#16
R Scooter Plowman, Cylen Javidan-Nejad, Constantine A Raptis, Douglas S Katz, Vincent M Mellnick, Sanjeev Bhalla, Patricia Cornejo, Christine O Menias
Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications. Because radiologists often play an important role in evaluation of the pregnant patient, understanding the pathophysiology of vascular-related complications in pregnancy and their imaging appearances is essential for diagnostic accuracy...
July 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28696502/linking-brain-arteriovenous-malformations-with-anorectal-hemorrhoids-a-clinical-and-anatomical-review
#17
REVIEW
Joshua A Cuoco, Christopher L Hoehmann, Kyle Hitscherich, Sherry M Zakhary, Joerg R Leheste, German Torres
Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease...
July 11, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28695311/aberrant-paramagnetic-signals-outside-the-tumor-volume-on-routine-surveillance-mri-of-brain-tumor-patients
#18
Shlomit Yust-Katz, Edna Inbar, Natalia Michaeli, Dror Limon, Tali Siegal
Late complications of cerebral radiation therapy (RT) involve vascular injury with acquired cavernous malformation, telangiectasias and damage to vascular walls which are well recognized in children. Its incidence in adults is unknown. Blood products and iron deposition that accompany vascular injury create paramagnetic effects on MRI. This study retrospectively investigated the frequency of paramagnetic lesions on routine surveillance MRI of adult brain tumor patients. MRI studies of 115 brain tumor patients were reviewed...
July 10, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28693235/japanese-apricot-extract-mk615-potentiates-bendamustine-induced-apoptosis-via-impairment-of-the-dna-damage-response-in-lymphoma-cells
#19
Masaya Inoue, Yoshio Honma, Takeshi Urano, Junji Suzumiya
Bendamustine, a hybrid molecule of a purine analog and alkylator, induces cell death by the activation of apoptosis and the DNA damage response. The agent MK615 is produced from Japanese apricot and contains a number of cyclic triterpenes that exhibit antitumor activities. In the present study, the combined effects of bendamustine and MK615 on lymphoma cells were investigated. The combined compounds synergistically induced apoptosis in all lymphoid cell lines examined. MK615 inhibited the bendamustine-induced phosphorylation of checkpoint kinase 1 and 2...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28692051/transcriptional-regulation-of-ataxia-telangiectasia-and-rad3-related-protein-by-activated-p21-activated-kinase-1-protects-keratinocytes-in-uv-b-induced-premalignant-skin-lesions
#20
S Beesetti, J Mavuluri, R P Surabhi, T M Oberyszyn, K Tober, R S Pitani, L D Joseph, G Venkatraman, S K Rayala
Sun-induced skin lesions, in particular actinic keratosis, are generally considered as premalignant skin lesions that can progress into squamous cell carcinoma (SCC) and invasive SCC if left untreated. Therefore, understanding the molecular mechanisms by which the ultraviolet-B (UV-B)-exposed cells are being protected and the signaling pathways that promote the progression of certain premalignant skin lesions to malignant lesions will permit us to prevent or cure skin cancers. In the current study, we found that phospho-p21-activated kinase-1 (Pak1) and Pak1 expression was high in clinical samples of sunlight-induced premalignant skin lesions assessed by immunohistochemistry...
July 10, 2017: Oncogene
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