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Telangiectasia

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https://www.readbyqxmd.com/read/28099512/age-dependent-oxidative-dna-damage-does-not-correlate-with-reduced-proliferation-of-cardiomyocytes-in-humans
#1
Yanhui Huang, Haifa Hong, Minghui Li, Jinfen Liu, Chuan Jiang, Haibo Zhang, Lincai Ye, Jinghao Zheng
BACKGROUND: Postnatal human cardiomyocyte proliferation declines rapidly with age, which has been suggested to be correlated with increases in oxidative DNA damage in mice and plays an important role in regulating cardiomyocyte proliferation. However, the relationship between oxidative DNA damage and age in humans is unclear. METHODS: Sixty right ventricular outflow myocardial tissue specimens were obtained from ventricular septal defect infant patients during routine congenital cardiac surgery...
2017: PloS One
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#2
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28097306/universal-trichloroacetic-acid-peel-technique-for-light-and-dark-skin
#3
Nabil Fanous, Shadi Zari
Importance: Despite their great potential, medium and deep trichloroacetic acid peels are underused in light-skinned patients and are rarely used in darker-skinned patients because of the widespread fear of pigmentary complications and scarring. This concern has led many physicians to opt for the use of lighter types of peels (glycolic acid peel, Jessner peel, etc) and different lasers and intense light technologies. Trichloroacetic acid peels have been described in numerous publications...
January 12, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#4
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28094871/divergence-of-camp-signaling-pathways-mediating-augmented-nucleotide-excision-repair-and-pigment-induction-in-melanocytes
#5
Erin M Wolf Horrell, Stuart G Jarrett, Katharine M Carter, John A D'Orazio
Loss-of-function melanocortin 1 receptor (MC1R) polymorphisms are common in UV-sensitive fair-skinned individuals and are associated with blunted cAMP second messenger signaling and higher lifetime risk of melanoma because of diminished ability of melanocytes to cope with UV damage. cAMP signaling positions melanocytes to resist UV injury by up-regulating synthesis of UV-blocking eumelanin pigment and by enhancing the repair of UV-induced DNA damage. cAMP enhances melanocyte nucleotide excision repair (NER), the genome maintenance pathway responsible for the removal of mutagenic UV photolesions, through cAMP-activated protein kinase (protein kinase A)-mediated phosphorylation of the ataxia telangiectasia mutated and Rad3 related (ATR) protein on the S435 residue...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28093597/telangiectatic-mycosis-fungoides-a-new-clinicopathological-presentation-mimicking-acquired-naevoid-telangiectasia
#6
Lidia García-Colmenero, Laia Curto-Barredo, Ignacio Gómez-Martin, Fernando Gallardo, Ramon M Pujol
is missing (Short communication).
January 17, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28093285/the-depletion-of-atm-inhibits-colon-cancer-proliferation-and-migration-via-b56%C3%AE-2-mediated-chk1-p53-cd44-cascades
#7
Rui Liu, Jiajia Tang, Chaodong Ding, Weicheng Liang, Li Zhang, Tianke Chen, Yan Xiong, Xiaowei Dai, Wenfeng Li, Yunsheng Xu, Jin Hu, Liting Lu, Wanqin Liao, Xincheng Lu
Ataxia-telangiectasia mutated (ATM) protein kinase is a major guardian of genomic stability, and its well-established function in cancer is tumor suppression. Here, we report an oncogenic role of ATM. Using two isogenic sets of human colon cancer cell lines that differed only in their ATM status, we demonstrated that ATM deficiency significantly inhibits cancer cell proliferation, migration, and invasion. The tumor-suppressive function of ATM depletion is not modulated by the compensatory activation of ATR, but it is associated with B56γ2-mediated Chk1/p53/CD44 signaling pathways...
January 13, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28079755/macular-pigment-distribution-responses-to-high-dose-zeaxanthin-supplementation-in-patients-with-macular-telangiectasia-type-2
#8
Rene Y Choi, Aruna Gorusupudi, Kimberley Wegner, Mohsen Sharifzadeh, Werner Gellermann, Paul S Bernstein
PURPOSE: To analyze macular pigment (MP) amount and distribution in patients with macular telangiectasia Type 2 receiving oral zeaxanthin supplementation in a randomized, open-label, interventional trial. METHODS: Eight macular telangiectasia Type 2 patients were randomized to 10 mg or 20 mg of zeaxanthin per day. At each visit, best-corrected visual acuity, contrast sensitivity, fundus biomicroscopy, color fundus photography, autofluorescence imaging, optical coherence tomography, and serum carotenoid levels were tested...
January 10, 2017: Retina
https://www.readbyqxmd.com/read/28076792/the-mre11-nbs1-interface-is-essential-for-viability-and-tumor-suppression
#9
Jun Hyun Kim, Malgorzata Grosbart, Roopesh Anand, Claire Wyman, Petr Cejka, John H J Petrini
The Mre11 complex (Mre11, Rad50, and Nbs1) is integral to both DNA repair and ataxia telangiectasia mutated (ATM)-dependent DNA damage signaling. All three Mre11 complex components are essential for viability at the cellular and organismal levels. To delineate essential and non-essential Mre11 complex functions that are mediated by Nbs1, we used TALEN-based genome editing to derive Nbs1 mutant mice (Nbs1(mid) mice), which harbor mutations in the Mre11 interaction domain of Nbs1. Nbs1(mid) alleles that abolished interaction were incompatible with viability...
January 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/28074659/ferulic-acid-fa-abrogates-%C3%AE-radiation-induced-oxidative-stress-and-dna-damage-by-up-regulating-nuclear-translocation-of-nrf2-and-activation-of-nhej-pathway
#10
Ujjal Das, Krishnendu Manna, Amitava Khan, Mahuya Sinha, Sushobhan Biswas, Aaveri Sengupta, Anindita Chakraborty, Sanjit Dey
The present study was aimed to evaluate the radioprotective effect of ferulic acid (FA), a naturally occurring plant flavonoid in terms of DNA damage and damage related alterations of repair pathways by gamma radiation. FA was administered at a dose of 50 mg/kg body weight for five consecutive days prior to exposing the swiss albino mice to a single dose of 10 Gy gamma radiation. Ionising radiation induces oxidative damage manifested by decreased expression of Cu, Zn-SOD (SOD stands for super oxide dismutase), Mn-SOD and catalase...
January 11, 2017: Free Radical Research
https://www.readbyqxmd.com/read/28070767/strut-adjusted-volume-implant-savi-brachytherapy-based-accelerated-partial-breast-irradiation-apbi-in-african-american-women
#11
Amir Isbell, Jacquelyn Dunmore-Griffith, Olubunmi Abayomi
PURPOSE: To examine the clinical outcomes of postmenopausal African American (AA) women treated with strut-adjusted volume implant brachytherapy-based accelerated partial breast irradiation for early-stage node-negative breast cancer. METHODS: From January 2011 through April 2015, a total of 50 AA patients, meeting criteria to receive APBI as defined by the National Surgical Adjuvant Breast and Bowel Project B-39 (NASBP B-39), completed treatment with the SAVI breast brachytherapy device at Howard University Hospital...
January 9, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28070641/influence-of-temporary-nasal-occlusion-tno-on-epistaxis-frequency-in-patients-with-hereditary-hemorrhagic-telangiectasia-hht
#12
Kornelia E C Wirsching, Frank Haubner, Thomas S Kühnel
The objective of the study was to evaluate the influence of temporary nasal occlusion (tNO) with hypoallergenic tape on the frequency and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). This prospective observational study included 20 HHT patients who were undergoing Nd:YAG laser therapy at regular intervals. Over a 3-month period, laser therapy was supplemented by tNO with hypoallergenic tape for 5 h/day on average. On a 0-10 numeric rating scale, the patients reported significantly greater satisfaction in epistaxis terms after tNO treatment, with mean scores of 5 before and 7 after 3-month tNO (p = 0...
January 9, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28070235/bevacizumab-and-gastrointestinal-bleeding-in-hereditary-hemorrhagic-telangiectasia
#13
George Ou, Cherry Galorport, Robert Enns
We report a case of severe, refractory gastrointestinal (GI) bleeding in a patient with hereditary hemorrhagic telangiectasia (HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizumab, an anti-vascular endothelial growth factor. The patient's bleeding had been refractory to repeated endoscopic interventions, tranexamic acid, and tamoxifen. However, following treatment with bevacizumab at 5 mg/kg every other week, nearly 300 units of packed red blood cell transfusions were avoided in one year's time...
December 27, 2016: World Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28064338/-unknown-title
#14
V J Lund, Y Darby, J Rimmer, M Amin, S Husain
INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The nosebleeds can be life-threatening and in these circumstances, radical treatment is required. METHODS: Since 1994, closure of the nose has been undertaken to prevent severe nasal bleeding in patients meeting specific selection criteria. Outcome data collected on this cohort pre- and post-operatively is available for analysis...
January 8, 2017: Rhinology
https://www.readbyqxmd.com/read/28063379/oxidative-stress-mitochondrial-abnormalities-and-antioxidant-defense-in-ataxia-telangiectasia-bloom-syndrome-and-nijmegen-breakage-syndrome
#15
REVIEW
Mateusz Maciejczyk, Bozena Mikoluc, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Malgorzata Pac, Radosław Motkowski, Halina Car
Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can be explained by aberrant DNA damage response and chromosomal instability. It has been suggested that one possible common denominator of these conditions could be chronic oxidative stress caused by endogenous ROS overproduction and impairment of mitochondrial homeostasis...
December 28, 2016: Redox Biology
https://www.readbyqxmd.com/read/28062495/therapeutic-targeting-of-rna-polymerase-i-with-the-small-molecule-cx-5461-for-prevention-of-arterial-injury-induced-neointimal-hyperplasia
#16
Qing Ye, Shu Pang, Wenjing Zhang, Xiaotong Guo, Jianli Wang, Yongtao Zhang, Yang Liu, Xiao Wu, Fan Jiang
OBJECTIVE: RNA polymerase I (Pol I)-dependent rRNA synthesis is a determinant factor in ribosome biogenesis and thus cell proliferation. The importance of dysregulated Pol I activity in cardiovascular disease, however, has not been recognized. Here, we tested the hypothesis that specific inhibition of Pol I might prevent arterial injury-induced neointimal hyperplasia. APPROACH AND RESULTS: CX-5461 is a novel selective Pol I inhibitor. Using this tool, we demonstrated that local inhibition of Pol I blocked balloon injury-induced neointima formation in rat carotid arteries in vivo...
January 5, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28060148/short-term-safety-of-2-mg-intravitreal-ziv-aflibercept
#17
Jay Chhablani, Chintan Jethalal Dedhia, Hari K Peguda, Michael Stewart
PURPOSE: To evaluate the safety of single intravitreal 2 mg ziv-aflibercept (0.08 mL) injections for the treatment of choroidal neovascular membranes (CNVM). METHODS: Eyes with choroidal neovascular membranes because of several conditions each received single intravitreal injections of 2 mg ziv-aflibercept (0.08 mL). Comprehensive ophthalmic examinations and detailed systemic evaluations were performed at baseline and Days 1, 7, and 30 after injections. Standard electroretinography was performed at baseline and Day 30...
January 2, 2017: Retina
https://www.readbyqxmd.com/read/28059706/the-prevalence-of-malformations-of-cortical-development-in-a-pediatric-hereditary-hemorrhagic-telangiectasia-population
#18
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/28057860/contribution-of-canonical-nonhomologous-end-joining-to-chromosomal-rearrangements-is-enhanced-by-atm-kinase-deficiency
#19
Ragini Bhargava, Caree R Carson, Gabriella Lee, Jeremy M Stark
A likely mechanism of chromosomal rearrangement formation involves joining the ends from two different chromosomal double-strand breaks (DSBs). These events could potentially be mediated by either of two end-joining (EJ) repair pathways [canonical nonhomologous end joining (C-NHEJ) or alternative end joining (ALT-EJ)], which cause distinct rearrangement junction patterns. The relative role of these EJ pathways during rearrangement formation has remained controversial. Along these lines, we have tested whether the DNA damage response mediated by the Ataxia Telangiectasia Mutated (ATM) kinase may affect the relative influence of C-NHEJ vs...
January 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28050323/intravitreal-bevacizumab-treatment-in-type-2-idiopathic-macular-telangiectasia
#20
Tuğba Aydoğan, Gürkan Erdoğan, Cihan Ünlü, Ahmet Ergin
OBJECTIVES: To evaluate the efficacy of intravitreal bevacizumab treatment in type 2 idiopathic macular telangiectasia (IMT). MATERIALS AND METHODS: Six eyes of 5 patients with type 2 IMT who received intravitreal bevacizumab between 2009 and 2014 were included in this study. All the patients had an ophthalmological examination including best corrected visual acuity (BCVA), dilated fundus examination, spectral domain optical coherence tomography (OCT) and fluorescein angiography...
December 2016: Turkish Journal of Ophthalmology
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