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Telangiectasia

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https://www.readbyqxmd.com/read/28346404/chemical-screening-identifies-atm-as-a-target-for-alleviating-senescence
#1
Hyun Tae Kang, Joon Tae Park, Kobong Choi, Yongsub Kim, Hyo Jei Claudia Choi, Chul Won Jung, Young-Sam Lee, Sang Chul Park
Senescence, defined as irreversible cell-cycle arrest, is the main driving force of aging and age-related diseases. Here, we performed high-throughput screening to identify compounds that alleviate senescence and identified the ataxia telangiectasia mutated (ATM) inhibitor KU-60019 as an effective agent. To elucidate the mechanism underlying ATM's role in senescence, we performed a yeast two-hybrid screen and found that ATM interacted with the vacuolar ATPase V1 subunits ATP6V1E1 and ATP6V1G1. Specifically, ATM decreased E-G dimerization through direct phosphorylation of ATP6V1G1...
March 27, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28341201/the-atm-kinase-inhibitor-ku-55933-provides-neuroprotection-against-hydrogen-peroxide-induced-cell-damage-via-a-%C3%AE-h2ax-p-p53-caspase-3-independent-mechanism-inhibition-of-calpain-and-cathepsin-d
#2
Jakub Chwastek, Danuta Jantas, Władysław Lasoń
The role of the kinase ataxia-telangiectasia mutated (ATM), a well-known protein engaged in DNA damage repair, in the regulation of neuronal responses to oxidative stress remains unexplored. Thus, the neuroprotective efficacy of KU-55933, a potent inhibitor of ATM, against cell damage evoked by oxidative stress (hydrogen peroxide, H2O2) has been studied in human neuroblastoma SH-SY5Y cells and compared with the efficacy of this agent in models of doxorubicin (Dox)- and staurosporine (St)-evoked cell death. KU-55933 inhibited the cell death induced by H2O2 or Dox but not by St in undifferentiated (UN-) and retinoic acid-differentiated (RA)-SH-SY5Y cells, with a more pronounced effect in the latter cell phenotype...
March 21, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28339142/selective-effects-of-oral-anti-angiogenic-tyrosine-kinase-inhibitors-on-an-animal-model-of-hereditary-hemorrhagic-telangiectasia
#3
Yong Hwan Kim, Mi-Jung Kim, Se-Woon Choe, Dennis Sprecher, Young Jae Lee, S Paul Oh
BACKGROUND: Epistaxis and gastrointestinal (GI) tract hemorrhages are common symptoms of aged hereditary hemorrhagic telangiectasia (HHT) patients that result in anemia. Clinical as well as animal studies have suggested that vascular endothelial growth factor (VEGF) neutralizing antibodies lessen hemorrhage associated with adult onset arteriovenous malformations (AVMs). OBJECTIVES: The goal of this study is to evaluate potential therapeutic effects of oral delivery of four anti-angiogenic tyrosine-kinase inhibitors (TKIs) in the development of adult onset AVMs in a murine model of HHT...
March 24, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28338211/multidisciplinary-care-of-children-and-young-people-with-ataxia-telangiectasia
#4
William P Whitehouse
No abstract text is available yet for this article.
March 24, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28331457/visual-loss-retinal-hemorrhages-and-optic-disc-edema-resulting-from-thiamine-deficiency-following-bariatric-surgery-complicated-by-prolonged-vomiting
#5
Andrew W Lawton, Nicholas E Frisard
BACKGROUND: Vision loss resulting from thiamine deficiency is a recognized complication of bariatric surgery. Most patients with such vision loss have Wernicke encephalopathy with characteristic changes seen on neuroimaging. Other patients may have retinal hemorrhages, optic disc edema, and peripheral neuropathy without Wernicke encephalopathy. The risk for thiamine deficiency is potentiated by the presence of prolonged vomiting. CASE REPORT: A 37-year-old female presented with abrupt onset of vision loss and peripheral neuropathy following bariatric surgery...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28329672/vitamin-d-and-skin-aging
#6
Merel A Hamer, Raymond Noordam, Luba M Pardo, Diana Van Heemst, David A Gunn, Tamar Nijsten
BackgroundThe relationship between 25-hydroxyvitamin D and different phenotypes of skin aging (e.g., wrinkles, pigmented spots, telangiectasia, perceived age) is unclear. We investigated the association between vitamin D levels and skin aging phenotypes in middle-aged participants from the Rotterdam Study (RS) and Leiden Longevity Study (LLS).MethodsStandardized facial photographs were taken of North-European participants from the RS (N=3,831; 58.2% female, median age 66.5) and the LLS (N=661; 50.5% female, median age 63...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329665/risk-factors-for-facial-telangiectasia
#7
Merel A Hamer, Luba M Pardo, David A Gunn, Tamar Nijsten
BackgroundTelangiectasia or red veins are one of the main features of facial skin aging. To date there are few studies investigating risk factors for telangiectasia. We investigated environmental risk factors in a population-based cohort study, using a digital continuous outcome measure.MethodsTelangiectasia were quantified digitally from standardized 3-dimensional facial photographs of 2886 North- European participants (56.8% female, median age 66.9) from the Rotterdam Study, a prospective population-based cohort study...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329658/potential-relationship-between-rosacea-and-parkinson-s-disease
#8
Erin Ibler, Beatrice Nardone, Sara Majewski, Nicholas Guido, Thy Huynh, Sarah Lyon, Stephanie M Rangel, Bethanee Schlosser, Dennis P West, Anne E Laumann
Rosacea is a common inflammatory condition characterized by transient or persistent facial erythema, telangiectasias, papules and pustules, for which an association has been reported to exist with Parkinson's disease (PD). We used a large, urban, single center, electronic medical record repository by searching the Northwestern Medicine Enterprise Data Warehouse (NMEDW) (> 4 million patients) for this association. Patients were included if they had an in-person encounter (Jan 2001 to May 2016) and with 1 year documentation of follow-up...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329615/necrolytic-migratory-erythema-associated-with-fatty-liver-disease-and-the-psuedoglucagonoma-syndrome
#9
Collin Fuller, Jaimie Glick, Shelly Rivas, Katy Burris
We report a 48-year-old woman with a past medical history of psoriasis, nonalcoholic steatohepatitis (NASH), and type II diabetes mellitus, who presented to the emergency department with a 1 week history of erosive annular plaques with associated atrophy and telangiectasias on her legs bilaterally, thighs and buttock, histopathologically consistent with necrolytic migratory erythema. Although classically associated with a pancreatic glucagonoma, this patient experienced this figurate erythema in the setting of fatty liver disease with no glucagonoma...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329573/a-diagnostic-challenge
#10
D Ismail, G Langman, S D Orpin
A 74 year-old woman presented with a 9 month history of a slowly enlarging exophytic lesion over her left nasal alar. Examination revealed a firm, cystic mass fixed to underlying skin. It was pedunculated with occasional superficial telangiectasia and a violaceous hue. A differential diagnosis of dermoid or sebaceous cyst, dermatofibroma, and neurofibroma was considered. Histopathological examination confirmed the rare diagnosis of chondroid syringoma (CS), which has a reported incidence of 0.01- 0.098% of excised skin tumors...
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329480/linear-atrophy-and-vascular-fragility-following-ultrasoundguided-triamcinolone-injection-for-dequervain-tendonitis
#11
Hal B Willardson, Shannon Buck, James Neiner
A 64 year-old woman presented with a one-yearhistory of purpuric, atrophic, linear patches alongthe left lateral forearm. The patient had receivedtwo ultrasound-guided triamcinolone injectionsone year earlier into her left extensor pollicis brevisand abductor pollicis longus tendon sheathsfor DeQuervain tendonitis. In the seven monthsfollowing the second injection, the patient developedatrophy, purpura, and telangiectasias starting at thesite of injection and extending proximally, followingthe course of her left cephalic vein...
January 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28318010/ataxia-telangiectasia-recommendations-for-multidisciplinary-treatment
#12
REVIEW
Nienke J H van Os, Charlotte A Haaxma, Michiel van der Flier, Peter J F M Merkus, Marcel van Deuren, Imelda J M de Groot, Jan Loeffen, Bart P C van de Warrenburg, Michèl A A P Willemsen
Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition...
March 20, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28314138/depression-and-post-traumatic-stress-disorder-in-individuals-with-hereditary-hemorrhagic-telangiectasia-a-cross-sectional-survey
#13
Shruti Chaturvedi, Marianne Clancy, Nicole Schaefer, Olalekan Oluwole, Keith R McCrae
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. METHODS: A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT...
March 9, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28301625/successful-treatment-of-generalized-essential-telangiectasia-with-6-mercaptopurine
#14
Alex M Glazer, Bryan D Sofen, Darrell S Rigel, Jerome L Shupack
<p>Generalized essential telangiectasia (GET) is a notoriously difficult to treat disorder with no current satisfactory treatments. This case and discussion report the use of 6-mercaptopurine (6-MP) as a successful treatment for GET. Moreover, we show that GET may represent a state of increased angiogenesis, a paradigm shift from the current understanding that these telangiectasias represent dilatations of only pre-existing vessels. This new view of GET may drive others to look at novel agents for treatment...
March 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28300917/periorbital-discoid-lupus-a-rare-localization-in-a-patient-with-systemic-lupus-erythematosus
#15
Ozgur Cakici, Remzi Karadag, Huseyin Bayramlar, Seyma Ozkanli, Tugba Kevser Uzuncakmak, Ayse Serap Karadag
A 40-year-old female patient with a 5-year history of systemic lupus erythematosus was referred to our policlinic with complaints of erythema, atrophy, and telangiectasia on the upper eyelids for 8 months. No associated mucocutaneous lesion was present. Biopsy taken by our ophthalmology department revealed discoid lupus erythematosus. Topical tacrolimus was augmented to the systemic therapeutic regimen of the patient, which consisted of continuous antimalarial treatment and intermittent corticosteroid drugs...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#16
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28298578/hereditary-hemorrhagic-telangiectasia-management
#17
Jeffrey Peterson
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that can lead to frequent and severe sequelae. Although the condition has no cure, many of its physical symptoms can be managed to improve the quality of life and lower the risk of life-threatening complications. This article discusses HHT presentation, genetic screening, diagnosis, and management. The management of HHT can involve interventional radiology techniques, particularly for patients with pulmonary arteriovenous malformations.
January 2017: Radiologic Technology
https://www.readbyqxmd.com/read/28298363/mutual-interaction-between-endothelial-cells-and-mural-cells-enhances-bmp9-signaling-in-endothelial-cells
#18
Yuki Tachida, Nanae Izumi, Toyo Sakurai, Hideki Kobayashi
Hereditary hemorrhagic telangiectasia is characterized by the formation of abnormal vascular networks and caused by the mutation of genes involved in BMP9 signaling. It is also known that the interaction between endothelial cells (ECs) and mural cells (MCs) is critical to maintain vessel integrity. However, it has not yet fully been uncovered whether the EC-MC interaction affects BMP9 signaling or not. To elucidate this point, we analyzed BMP9 signaling in a co-culture of several types of human primary culture ECs and MCs...
March 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28297555/epistaxis-grading-in-osler-s-disease-comparison-of-comprehensive-scores-with-detailed-bleeding-diaries
#19
Thomas Parzefall, Axel Wolf, Klemens Frei, Alexandra Kaider, Dominik Riss
BACKGROUND: Use of reliable grading scores to measure epistaxis severity in hereditary hemorrhagic telangiectasia (HHT) is essential in clinical routine and for scientific purposes. For practical reasons, visual analog scale (VAS) scoring and the Epistaxis Severity Score (ESS) are widely used. VAS scores are purely subjective, and a potential shortcoming of the ESS is that it is based on self-reported anamnestic bleeding data. The aim of this study was to validate the level of correlation between VAS scores, the ESS, and actual bleeding events, based on detailed epistaxis diaries of patients...
March 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28297041/fluorescein-angiography-versus-optical-coherence-tomography-angiography-in-macular-telangiectasia-type-i-treated-with-bevacizumab-therapy
#20
Nicolas A Yannuzzi, Ninel Z Gregori, Luiz Roisman, Nisha Gupta, Brian E Goldhagen, Raquel Goldhardt
This is a report of microvascular changes seen on fluorescein angiography (FA) and optical coherence tomography angiography (OCTA) in a 47-year-old man with macular telangiectasia Type 1 (MacTel1) after a 7-year bevacizumab (Avastin; Genentech, South San Francisco, CA) treatment course. OCTA allowed for clear visualization of most telangiectasias and aneurysms in the deep capillary plexus, with only few microvascular dilatations in the superficial plexus. In addition, areas of capillary dropout in the superficial and deep vascular plexa located near telangiectasias were documented on OCTA...
March 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
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