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Telangiectasia

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https://www.readbyqxmd.com/read/29150592/the-influence-of-genetic-stability-on-aspergillus-fumigatus-virulence-and-azole-resistance
#1
Thaila Fernanda Dos Reis, Lilian Pereira Silva, Patrícia Alves de Castro, Pollyne Borborema Almeida de Lima, Rafaela Andrade do Carmo, Marjorie Mendes Marini, José Franco da Silveira, Beatriz Henriques Ferreira, Fernando Rodrigues, Iran Malavazi, Gustavo H Goldman
Genetic stability is extremely important for the survival of every living organism and a very complex set of genes have evolved to cope with DNA repair upon DNA damage. Here, we investigated the Aspergillus fumigatus AtmA (Ataxia-telangiectasia mutated) and AtrA kinases and how they impact virulence and the evolution of azole resistance. We demonstrated that A. fumigatus atmA and atrA null mutants are haploid and have a discrete chromosomal polymorphism. The ΔatmA and ΔatrA strains are sensitive to several DNA damaging agents but surprisingly both strains were more resistant than the wild-type strain to paraquat, menadione, and hydrogen peroxide...
November 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29150217/idiopathic-macular-telangiectasia-type-2-prevalence-and-a-morphometric-and-phenotypic-study
#2
R M Bayón-Porras, I Pascual-Camps, C Plaza-Laguardia, R Gallego-Pinazo
OBJECTIVE: Type 2 idiopathic macular telangiectasia (MacTel2) is a rare retinal disease that has still not been well-defined. The aim of the present manuscript is to describe the clinical features by multimodal retinal imaging, to present the functional characteristics, and to estimate the prevalence of the disease. METHODS: A retrospective study was conducted on the 12 eyes of 6 patients with MacTel2. Fundus colour photographs, fundus autofluorescence, fluorescein angiography, optical coherence tomography (OCT), and OCT-angiography were performed and subsequently analysed...
November 14, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29148612/mat-like-telangiectasias
#3
Astrid Schirra, Knut Schäkel
No abstract text is available yet for this article.
November 17, 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/29147802/executive-summary-of-the-12th-hht-international-scientific-conference
#4
Jillian W Andrejecsk, Anna E Hosman, Luisa M Botella, Claire L Shovlin, Helen M Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C W Hughes, Franck Lebrin, Christine L Mummery, Marco C Post, Johannes J Mager
Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations...
November 16, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29144413/epstein-barr-virus-hijacks-dna-damage-response-transducers-to-orchestrate-its-life-cycle
#5
REVIEW
Pok Man Hau, Sai Wah Tsao
The Epstein-Barr virus (EBV) is a ubiquitous virus that infects most of the human population. EBV infection is associated with multiple human cancers, including Burkitt's lymphoma, Hodgkin's lymphoma, a subset of gastric carcinomas, and almost all undifferentiated non-keratinizing nasopharyngeal carcinoma. Intensive research has shown that EBV triggers a DNA damage response (DDR) during primary infection and lytic reactivation. The EBV-encoded viral proteins have been implicated in deregulating the DDR signaling pathways...
November 16, 2017: Viruses
https://www.readbyqxmd.com/read/29141890/british-thoracic-society-clinical-statement-on-pulmonary-arteriovenous-malformations
#6
Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort
Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals...
December 2017: Thorax
https://www.readbyqxmd.com/read/29141834/successful-treatment-of-hereditary-haemorrhagic-telangiectasia-using-595-nm-pulsed-dye-laser
#7
Junko Nishikawa, Norikazu Fujii, Takeshi Kato, Toshihiro Tanaka, Noriki Fujimoto
No abstract text is available yet for this article.
November 15, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#8
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141059/a-retrospective-study-on-efficacy-of-pulsed-dye-laser-and-intense-pulsed-light-for-the-treatment-of-facial-telangiectasia
#9
Lin Gao, Ni Gao, Wenting Song, Erle Dang, Rong Yin, Li Wang, Gang Wang
<p>Both pulsed dye laser (PDL) and intense pulsed light (IPL) systems have been demonstrated to be effective for treatment of facial telangiectasia, however there have been very few comparative studies between both treatments involving purely Asian patient populations. In this study, we performed a retrospective analysis to compare the efficacy of PDL and IPL systems for the treatment of facial telangiectasia. A total of 416 patients with facial telangiectasia who were treated by PDL or IPLs in our department from August 2012 to March 2015 were included in this study...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29140123/classifying-pulmonary-hypertension-in-hereditary-hemorrhagic-telangiectasia-hemodynamics-matter
#10
Beth L Roman, Michael J Cuttica
No abstract text is available yet for this article.
November 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29138594/prevention-and-treatment-of-acute-and-chronic-radiodermatitis
#11
Sophie Seité, René-Jean Bensadoun, Jean-Michel Mazer
More than half the number of patients with cancer, who are treated with radiotherapy, will have radiodermatitis at some point during their treatment. Radiodermatitis either occurs early on in the treatment period or appears months or up to several years later. Acute radiodermatitis is a burn injury that varies in severity according to both treatment and inherent patient factors. Most acute radiodermatitis reactions resolve after several weeks but some reactions persist and can cause complications. Late-onset radiodermatitis is characterized by telangiectasia that forms on atrophic and fragile skin...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/29137421/gper-mediates-differential-effects-of-estrogen-on-colon-cancer-cell-proliferation-and-migration-under-normoxic-and-hypoxic-conditions
#12
Viviana Bustos, Áine M Nolan, Anke Nijhuis, Harry Harvey, Alexandra Parker, Richard Poulsom, Jean McBryan, Warren Thomas, Andrew Silver, Brian J Harvey
The estrogen receptor ERβ is the predominant ER subtype expressed in normal well-differentiated colonic epithelium. However, ERβ expression is lost under the hypoxic microenvironment as colorectal cancer (CRC) malignancy progresses. This raises questions about the role of signalling through other estrogen receptors such as ERα or G-protein coupled estrogen receptor (GPER, GPR30) by the estrogen 17β-estradiol (E2) under hypoxic conditions after ERβ is lost in CRC progression. We tested the hypothesis that E2 or hypoxia can act via GPER to contribute to the altered phenotype of CRC cells...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29133668/vitrectomy-for-full-thickness-macular-hole-in-adult-onset-coats-disease
#13
Vinod Kumar, Pradeep Kumar, Gaurav Garg, Saurabh Damodaran
The occurrence of full thickness macular hole in Coats' disease is extremely rare. The purpose of this case report is to report pars plana vitrectomy for the treatment of full thickness macular hole in a patient with adult onset Coats disease. A young male presented with decreased vision in his right eye because of full thickness macular hole. The macular hole was found to be associated with adult onset Coats' disease that was evident on ultra-wide field imaging. The patient underwent laser photocoagulation to the vascular telangiectasia followed by pars plana vitrectomy, large internal limiting membrane peeling and gas tamponade...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29133590/genotoxic-damage-activates-the-ampk-%C3%AE-1-isoform-in-the-nucleus-via-ca2-camkk2-signaling-to-enhance-tumor-cell-survival
#14
Diana Vara Ciruelos, Madhumita Dandapani, Alexander Gray, Ejaife O Egbani, A Mark Evans, D Grahame Hardie
Many genotoxic cancer treatments activate AMP-activated protein kinase (AMPK), but the mechanisms of AMPK activation in response to DNA damage, and its downstream consequences, have been unclear. In this study, etoposide activates the α1 but not the α2 isoform of AMPK, primarily within the nucleus. AMPK activation is independent of ataxia-telangiectasia mutated (ATM), a DNA damage-activated kinase, and the principal upstream kinase for AMPK, LKB1, but correlates with increased nuclear Ca2+ and requires the Ca2+/calmodulin-dependent kinase, CaMKK2...
November 13, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29133188/coronary-angiography-and-interventions-in-patients-with-hereditary-hemorrhagic-telangiectasia
#15
Andreas S Triantafyllis, Andreas S Kalogeropoulos, Keir McCutcheon, Walter Desmet, Johan Bennett
No abstract text is available yet for this article.
November 10, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29128564/epigenetic-mechanisms-of-atm-activation-after-helicobacter-pylori-infection
#16
Juliana Carvalho Santos, Rafael Zuppardo Gambeloni, Aline Tengan Roque, Sebastian Oeck, Marcelo Lima Ribeiro
Gastric cancer (GC) is the second leading cause of cancer-related mortality worldwide. The disease develops from the accumulation of several genetic and epigenetic changes. Among other risk factors, Helicobacter pylori infection is considered the main driving factor of GC development. H. pylori infection increases DNA damage levels and leads to epigenetic dysregulation, which may favor gastric carcinogenesis. An early step in double strand break repair is the recruitment of (ataxia-telangiectasia mutated serine/threonine kinase (ATM) to the damaged site, where it plays a key role in advancing the DNA damage checkpoint process...
November 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29127364/comparing-ataxias-with-oculomotor-apraxia-a-multimodal-study-of-aoa1-aoa2-and-at-focusing-on-video-oculography-and-alpha-fetoprotein
#17
L L Mariani, S Rivaud-Péchoux, P Charles, C Ewenczyk, A Meneret, B B Monga, M-C Fleury, E Hainque, T Maisonobe, B Degos, A Echaniz-Laguna, M Renaud, T Wirth, D Grabli, A Brice, M Vidailhet, D Stoppa-Lyonnet, C Dubois-d'Enghien, I Le Ber, M Koenig, E Roze, C Tranchant, A Durr, B Gaymard, M Anheim
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126306/the-future-of-radiobiology
#18
David G Kirsch, Max Diehn, Aparna H Kesarwala, Amit Maity, Meredith A Morgan, Julie K Schwarz, Robert Bristow, Sandra Demaria, Iris Eke, Robert J Griffin, Daphne Haas-Kogan, Geoff S Higgins, Alec C Kimmelman, Randall J Kimple, Isabelle M Lombaert, Li Ma, Brian Marples, Frank Pajonk, Catherine C Park, Dörthe Schaue, Eric J Bernhard
Innovation and progress in radiation oncology depend on discovery and insights realized through research in radiation biology. Radiobiology research has led to fundamental scientific insights, from the discovery of stem/progenitor cells to the definition of signal transduction pathways activated by ionizing radiation that are now recognized as integral to the DNA damage response (DDR). Radiobiological discoveries are guiding clinical trials that test radiation therapy combined with inhibitors of the DDR kinases DNA-dependent protein kinase (DNA-PK), ataxia telangiectasia mutated (ATM), ataxia telangiectasia related (ATR), and immune or cell cycle checkpoint inhibitors...
November 3, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29124983/comparative-toxicological-evaluation-of-nonylphenol-and-nonylphenol-polyethoxylates-using-human-keratinocytes
#19
Hyungjoo Kim, Sunhwa Oh, Myung Chan Gye, Incheol Shin
Nonylphenol polyethoxylates (NPEOs) are a major group of nonionic surfactants widely used in various detergents, cleaners, plastics, papers, and agro-chemical products. Nonylphenol (NP), which is a final degraded metabolite derived from NPEOs, has been reported as an endocrine disrupter, known to mimic or disturb reproductive hormone functions. Concern about the hazards of NP and NPEOs has generated legal restrictions and action plans worldwide. Considering the fact that NP and NPEOs are majorly used in the production of products such as detergents, shampoos, and cosmetics which frequently come into contact with the skin, we investigated the effects of NP and NPEOs on a human keratinocyte cell line (HaCaT)...
November 10, 2017: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/29124689/xeroderma-pigmentosa-group-a-xpa-nucleotide-excision-repair-and-regulation-by-atr-in-response-to-ultraviolet-irradiation
#20
Phillip R Musich, Zhengke Li, Yue Zou
The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein. More recent studies have shown that NER also involves numerous other proteins normally employed in DNA metabolism and cell cycle regulation. Central among these is ataxia telangiectasia and Rad3-related (ATR), a protein kinase involved in intracellular signaling in response to DNA damage, especially DNA damage-induced replicative stresses...
2017: Advances in Experimental Medicine and Biology
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