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Telangiectasia

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https://www.readbyqxmd.com/read/28644304/abnormal-retinal-reflectivity-to-short-wavelength-light-in-type-2-idiopathic-macular-telangiectasia
#1
Ferenc B Sallo, Irene Leung, Meike Zeimer, Traci E Clemons, Adam M Dubis, Marcus Fruttiger, Daniel Pauleikhoff, Emily Y Chew, Catherine Egan, Tunde Peto, Alan C Bird
PURPOSE: Macular telangiectasia Type 2 (MacTel) is a bilateral, progressive, potentially blinding retinal disease characterized by vascular and neurodegenerative signs, including an increased parafoveal reflectivity to blue light. Our aim was to investigate the relationship of this sign with other signs of macular telangiectasia Type 2 in multiple imaging modalities. METHODS: Participants were selected from the MacTel Type 2 study, based on a confirmed diagnosis and the availability of images...
June 21, 2017: Retina
https://www.readbyqxmd.com/read/28643718/a-rare-case-of-idiopathic-parafoveal-telangiectasia-associated-with-central-serous-chorioretinopathy
#2
Nicey Roy Thomas, Rupak Roy, Kumar Saurabh, Kalpita Das
No abstract text is available yet for this article.
June 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28642860/ataxia-telangiectasia-mutated-atm-polymorphisms-and-risk-of-lung-cancer-in-a-chinese-population
#3
Ajay A Myneni, Shen-Chih Chang, Rungui Niu, Li Liu, Baoxing Zhao, Jianping Shi, Xiaoyou Han, Jiawei Li, Jia Su, Shunzhang Yu, Zuo-Feng Zhang, Lina Mu
BACKGROUND: The ataxia telangiectasia-mutated (ATM) gene has a key role in DNA repair including activation and stabilization of p53, which implicates the importance of ATM polymorphisms in the development of cancer. This study aims to investigate the association of two ATM single-nucleotide polymorphisms (SNPs) with lung cancer, as well as their potential interaction with p53 gene and other known risk factors of lung cancer. METHODS: A population-based case-control study was conducted in Taiyuan city, China with 399 cases and 466 controls matched on the distribution of age and sex of cases...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28641551/nailfold-capillaroscopy-within-and-beyond-the-scope-of-connective-tissue-diseases
#4
Sevdalina Lambova, Ulf Müller-Ladner
Nailfold capillaroscopy is a noninvasive instrumental method for morphological analysis of the nutritive capillaries in the nailfold area. In rheumatology, it is a method of choice among instrumental modalities for differentiation of primary and secondary Raynaud's phenomenon (RP) in rheumatic diseases. RP is a common diagnostic problem in rheumatology. Defining the proper diagnosis is a prerequisite for administration of the appropriate treatment. Thus, nailfold capillaroscopic examination is of crucial importance for the every-day practice of the rheumatologists and is currently gaining increasing attention...
June 14, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28639713/rosacea-in-black-south-africans-with-skin-phototypes-v-and-vi
#5
N C Dlova, A Mosam
Rosacea is a chronic facial dermatosis considered to affect primarily white patients with light phototype skin, and is poorly documented in black patients. The aim of this study was to document the clinical features of rosacea in patients with phototypes V and VI. An 8-year retrospective chart review of patients with a clinical and histological diagnosis of rosacea or acne rosacea was undertaken. Of 6700 patients, 15 (0.2%) had rosacea. All were of African descent with skin phototype V or VI. Mean age was 47 years, and female : male ratio was 14 : 1...
June 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28638289/diagnosis-and-treatment-of-hereditary-hemorrhagic-telangiectasia
#6
REVIEW
Cameron Grigg, Daniel Anderson, James Earnshaw
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT. METHODS: We searched MEDLINE, EMBASE, and PubMed and identified 19 articles published since 2000 with current information on HHT. RESULTS: HHT is a disease more commonly associated with significant morbidity rather than mortality...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#7
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#8
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28633746/extragenital-bullous-lichen-sclerosus-on-the-anterior-lower-extremities-report-of-a-case-and-literature-review
#9
Nichelle Arnold, Mitch Manway, Sean Stephenson, Howard Lipkin
Lichen sclerosus (LS) is a benign, chronic, inflammatory skin disease with a predilection for the anogenital region in women. Although males can also be affected, the ratio of female to male incidence has been reported to be as high as 6-10:1 and possesses a bimodal age distribution of pre-pubertal girls and postmenopausal women [1, 2]. Affected skin usually demonstrates polygonal papules that coalesce into porcelain white plaques and can be associated with edema, telangiectasias, and comedo-like plug formation [3]...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28630789/efficacy-of-intravitreal-bevacizumab-in-treatment-of-proliferative-type-2-idiopathic-juxtafoveal-telangiectasia
#10
Ökkeş Baz, İhsan Yılmaz, Cengiz Alagöz, Ali Demircan, İrfan Perente, Abdullah Özkaya, Muhittin Taşkapılı
OBJECTIVES: To evaluate the effectiveness of intravitreal bevacizumab (IVB) in patients with subretinal neovascularization secondary to type 2 juxtafoveal telangiectasia. MATERIALS AND METHODS: Ten eyes of 10 patients were included in this retrospective study. All cases were treated with IVB (1.25 mg bevacizumab). Visual acuity and slit-lamp anterior and posterior segment examinations were performed at each visit. Central macular thickness (CMT) and intraretinal/subretinal fluid were evaluated via spectral domain optical coherence tomography (OCT)...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28627265/atm-radiation-and-the-risk-of-second-primary-breast-cancer
#11
Jonine L Bernstein, Patrick Concannon
PURPOSE: It was first suggested more than 40 years ago that heterozygous carriers for the human autosomal recessive disorder Ataxia-Telangiectasia (A-T) might also be at increased risk for cancer. Subsequent studies have identified the responsible gene, Ataxia-Telangiectasia Mutated (ATM), characterized genetic variation at this locus in A-T and a variety of different cancers, and described the functions of the ATM protein with respect to cellular DNA damage responses. However, an overall model of how ATM contributes to cancer risk, and in particular, the role of DNA damage in this process, remains lacking...
June 19, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/28626375/intravenous-bevacizumab-therapy-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-eng-e137k-alcoholic-cirrhosis-and-portal-hypertension
#12
Luigi F Bertoli, Pauline L Lee, Lauren Lallone, James C Barton
Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1-33 (no bevacizumab); 34-57 (bevacizumab); and 58-97 (no bevacizumab): hemoglobin (Hb) levels; platelet counts; units of transfused packed erythrocytes (PRBC units); and quantities of iron infused as iron dextran to support erythropoiesis...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28624372/taming-tricky-dsbs-atm-on-duty
#13
REVIEW
Thomas Clouaire, Aline Marnef, Gaëlle Legube
Ataxia Telangiectasia Mutated (ATM) has been known for decades as the main kinase mediating the DNA Double-Strand Break Response (DDR). Extensive studies have revealed its dual role in locally promoting detection and repair of DSBs as well as in activating global DNA damage checkpoints. However, recent studies pinpoint additional unanticipated functions for ATM in modifying both the local chromatin landscape and the global chromosome organization, more particularly at persistent breaks. Given the emergence of a novel and unexpected class of DSBs prevalently arising in transcriptionally active genes and intrinsically difficult to repair, a specific role of ATM at refractory DSBs could be an important and so far overlooked feature of Ataxia Telangiectasia (A-T) a severe disorder associated with ATM mutations...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28622416/rosacea-and-demodicidosis-associated-with-gain-of-function-mutation-in-stat1
#14
Julie Second, Anne-Sophie Korganow, Sarah Jannier, Anne Puel, Dan Lipsker
We report a family in which 3 of 5 children as well as the mother, had a gain-of-function (GOF) mutation in the signal transducer and activator of transcription (STAT1) associated with early-onset rosacea and demodicidosis. The proband case (Fig. 1) was a 13-year-old boy of non-consanguineous parents, known for a hypothyroidism, failure to thrive and chronic mucocutaneous candidiasis (CMC) since he was 5-6 years old. On examination, he had medio-facial erythema with telangiectasia, as well as sometimes pruritic papulopustular lesions of the face and neck...
June 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28619257/the-role-of-capsule-endoscopy-and-device-assisted-enteroscopy-for-small-bowel-lesions-in-hereditary-hemorrhagic-telangiectasia
#15
Rossella Cianci, Riccardo Urgesi, Annalisa Tortora, Arianna Amato, Estelle E Newton, Guido Costamagna, Maria Elena Riccioni
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant disorder leading to telangiectases and arteriovenous malformations of the skin, mucosa, and viscera. Telangiectases in the upper gastrointestinal tract are known, but data regarding possible small-bowel involvement are poor. AIMS: To evaluate the role of capsule endoscopy (CE) to determine the prevalence of small-bowel telangiectases in HHT patients, and the role of endoscopic treatment of these patients with particular reference to the incidence of re-bleeding after treatment...
May 25, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28615135/combined-therapy-for-epistaxis-by-hereditary-hemorrhagic-teleangiectasia-a-3-year-follow-up-study-on-45-patients
#16
Giorgos Papaspyrou, Dietmar Hecker, Maximilian Linxweiler, Bernhard Schick, Basel Al Kadah
Hereditary hemorrhagic telangiectasia (HHT) is a mutilating disease associated with the majority of patients with recurrent epistaxis episodes. The aim of this study was to present a single institution experience with patients treated for nasal epistaxis using a combination of Nd:YAG laser and argon plasma coagulation (APC) vs Nd:YAG laser alone, with a minimum follow-up of 3 years. 45 patients (21 men, 24 women) aged from 15 to 84 years with the diagnosis of HHT were treated in the Department of Otolaryngology, Head and Neck Surgery in Homburg/Saar between 10/2002 and 10/2012 because of epistaxis, using a combination of Nd:YAG laser and APC or Nd:YAG laser alone...
May 24, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28613105/rug3-is-a-negative-regulator-of-plant-responses-to-aba-in-arabidopsis-thaliana
#17
Chao Su, Jinhong Yuan, Hongtao Zhao, Yankun Zhao, Hongtao Ji, Youning Wang, Xia Li
Mitochondria is a main target of various stressors. Dysfunction of mitochondria stimulates overproduction of reactive oxygen species (ROS), which can cause oxidative damage to mitochondria and DNA. Recently, we demonstrated that RCC1/UVR8/GEF-like 3 (RUG3), a member of the Regulator of Chromatin Condensation 1 (RCC1) protein family, can directly interact with ataxia telangiectasia mutated (ATM), a key regulator of the DNA damage response (DDR), and synergistically regulates the alternative splicing of mitochondrial nad2...
June 14, 2017: Plant Signaling & Behavior
https://www.readbyqxmd.com/read/28612525/-the-role-of-dna-double-strain-damage-repairing-mechanisms-in-diabetic-atheroscolersis
#18
Li Zeng, Qun-Fang Ding, Ting-Yuan Xu, Fang Luo, Ning Ge, Shi-Tong Li
OBJECTIVES: To identify the role of DNA double-strain damage repairing pathway in the development of diabetics atherosclerosis. METHODS: Wistar male rats were randomly divided into three groups: control group (group A), balloon injury group (group B) and diabetes + balloon injury group (group C). Streptozotocin (STZ) was injected into rat abdomen to induce diabetes. After stabilizing high glucose, rats in group B and group C were both under aortic balloon injury technique and fed high lipid forage post-operatively...
March 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28610817/vascular-diseases-of-the-liver-clinical-guidelines-from-the-catalan-society-of-digestology-and-the-spanish-association-for-the-study-of-the-liver
#19
Marta Martín-Llahí, Agustín Albillos, Rafael Bañares, Annalisa Berzigotti, M Ángeles García-Criado, Joan Genescà, Virginia Hernández-Gea, Elba Llop-Herrera, Helena Masnou-Ridaura, José Mateo, Carmen A Navascués, Ángela Puente, Marta Romero-Gutiérrez, Macarena Simón-Talero, Luis Téllez, Fanny Turon, Cándido Villanueva, Roberto Zarrabeitia, Juan Carlos García-Pagán
Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy. This article reviews the current body of evidence concerning Budd-Chiari syndrome, non-cirrhotic portal vein thrombosis, idiopathic portal hypertension, sinusoidal obstruction syndrome, hepatic vascular malformations in hereditary haemorrhagic telangiectasia, cirrhotic portal vein thrombosis and other rarer vascular diseases including arterioportal fistulas...
June 11, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#20
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
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