Read by QxMD icon Read


Waleed Brinjikji, Vivek N Iyer, Christopher P Wood, Giuseppe Lanzino
OBJECTIVE Patients with hereditary hemorrhagic telangiectasia (HHT) are known to suffer from high rates of cerebral arteriovenous malformations (AVMs). The authors performed a systematic review and meta-analysis of the literature examining prevalence rates, characteristics, and clinical presentation of cerebral AVMs in the HHT population. METHODS To identify studies on AVM prevalence and characteristics in the HHT population, 4 databases (MEDLINE, EMBASE, Scopus and Web of Science) were searched by a reference librarian with over 30 years experience in systematic reviews and meta-analysis...
October 21, 2016: Journal of Neurosurgery
Yuguang Zhao, Lei Yang, Di Wu, Hua He, Mengmeng Wang, Tingwen Ge, Yudi Liu, Huimin Tian, Jiuwei Cui, Lin Jia, Ziqiang Wan, Fujun Han
PURPOSE: We conducted two meta-analyses of ATM genetic polymorphisms and cancer risk in individuals with or without radiation exposure to determine whether there was a joint effect between the ATM gene and radiation exposure in carcinogenesis. RESULTS: rs1801516, which was the only ATM polymorphism investigated by more than 3 studies of radiation exposure, was eligible for the present study. The meta-analysis of 23333 individuals without radiation exposure from 24 studies showed no association between the rs1801516 polymorphism and cancer risk, without heterogeneity across studies...
October 18, 2016: Oncotarget
Jin Ok Baek, Hoon Hur, Ha Ryeong Ryu, Jeong Soo Kim, Kyung Real Lee, Yu Ri Kim, Kwang Ho Choi
Various lasers have been used for the treatment of erythematotelangiectatic rosacea (ETR) that does not respond to systemic or topical therapy. The pulsed dye lasers (PDLs) are an effective option for ETR, and the purpuragenic fluence proved to be superior until now. Given that purpura and subsequent possible postinflammatory hyperpigmentation (PIH) are occasionally unbearable in some patients, and several studies using the low nonpurpuragenic fluence were reported. To deliver the sufficient high fluence of a PDL without generating purpura, we designed the fractionation of high fluence using five passes and longer pulse duration (6 milliseconds) of a PDL in succession...
October 20, 2016: Journal of Cosmetic Dermatology
Richard F Spaide, Mihoko Suzuki, Lawrence A Yannuzzi, Alexandre Matet, Francine Behar-Cohen
PURPOSE: To evaluate multimodal imaging including volume-rendered angiographic and structural optical coherence tomography of macular telangiectasia Type 2 (MacTel2) for right-angle vein complexes, macular cavitations, and signs of deeper retinal vascular invasion. METHODS: Retrospective review of imaging performed in a community-based retinal referral center. The eyes were scanned using optical coherence tomography using split-spectrum amplitude-decorrelation techniques to derive flow information...
September 30, 2016: Retina
Robert C A M van Waardenburg
Tyrosyl-DNA phosphodiesterase I (TDP1), like most DNA repair associated proteins, is not essential for cell viability. However, dysfunctioning TDP1 or ATM (ataxia telangiectasia mutated) results in autosomal recessive neuropathology with similar phenotypes, including cerebellar atrophy. Dual inactivation of TDP1 and ATM causes synthetic lethality. A TDP1H(493)R catalytic mutant is associated with spinocerebellar ataxia with axonal neuropathy (SCAN1), and stabilizes the TDP1 catalytic obligatory enzyme-DNA covalent complex...
2016: Journal of Neurology & Neuromedicine
Edyta Biskup, David Gram Naym, Robert Gniadecki
BACKGROUND: Psoralen plus ultraviolet A (PUVA) photochemotherapy is a combination treatment used for inflammatory and neoplastic skin diseases such as mycosis fungoides (MF), the most common type of cutaneous T-cell lymphoma (CTCL). However, 30% of MF patients do not respond sufficiently to PUVA and require more aggressive therapies. OBJECTIVE: The aim of this project was to investigate whether inhibition of Ataxia Telangiectasia and Rad3 related kinase (ATR) may enhance efficacy of phototherapy...
September 16, 2016: Journal of Dermatological Science
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Chaeyoun Oh, Joong Kee Youn, Ji-Won Han, Gi Beom Kim, Hyun-Young Kim, Sung-Eun Jung
INTRODUCTION: The Fontan procedure (FP) has become the standard operation for patients with single ventricle physiology. However, a long period of elevated systemic venous pressure and low cardiac output after the procedure result in chronic inflammation and liver cirrhosis, which may eventually lead to the occurrence of hepatocellular carcinoma (HCC). CLINICAL FINDINGS: We described the case of a 16-year-old female who developed HCC after the FP. At 21 months, the patient received a lateral tunnel FP, and 14 years later, she began complaining of abdominal distension, telangiectasia, and fatigue...
October 2016: Medicine (Baltimore)
Ronald Bush, Peggy Bush
INTRODUCTION: This study was designed to determine by histological evaluation and clinical correlation the most effective sclerosant concentration of Sotradecol® (sodium tetradecyl sulfate) and Asclera® (polidocanol) for the treatment of leg telangiectasia. METHODS: Histological studies were completed on 40 patients, all of whom were female with a mean age of 53. After sclerotherapy with varying concentrations of sclerosant solutions for the treatment of 0.8 mm and 1 mm leg telangiectasia, histological specimens were examined for the following criteria: luminal changes, subintimal changes, smooth muscle wall alterations, and vessel wall integrity...
October 12, 2016: Phlebology
Melanie Baxter, Lori Erby, Debra Roter, Barbara A Bernhardt, Peter Terry, Alan Guttmacher
PURPOSE: This study aimed to identify factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT). METHODS: Participants with a self-reported diagnosis of HHT were recruited from the HHT Foundation International, Inc.; the "HHT Awareness" Facebook group; and six HHT clinics. A cross-sectional mixed methods survey was administered to investigate the relationships among the Health Belief model constructs, the domains of illness representations, and HHT-specific screening behaviors consistent with recommended guidelines...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sonay İncesoy-Özdemir, Hanife Tuğçe Susam, Bahar Göktürk, Halil Özdemir, İlknur Küçükosmanoğlu
Unilateral nevoid telangiectasia (UNT) is characterized by the dermatomal distribution of telangiectasia, which are distributed unilaterally and frequently found in C3-C4 or the trigeminal dermatomal areas. It may be congenital or acquired and has a 2:1 female: male ratio. Several theories where developed in order to explain its etiopathogenesis. The most widely accepted is the one which establishes its probable association with an increase in estrogen levels. Its incidence is unknown, although it's probably subdiagnosed and more frequent than previously recognized...
November 2015: Turkish Journal of Pediatrics
Benedetta Pignoloni, Cinzia Fionda, Valentina Dell'Oste, Anna Luganini, Marco Cippitelli, Alessandra Zingoni, Santo Landolfo, Giorgio Gribaudo, Angela Santoni, Cristina Cerboni
Elimination of virus-infected cells by cytotoxic lymphocytes is triggered by activating receptors, among which NKG2D and DNAM-1/CD226 play an important role. Their ligands, that is, MHC class I-related chain (MIC) A/B and UL16-binding proteins (ULBP)1-6 (NKG2D ligand), Nectin-2/CD112, and poliovirus receptor (PVR)/CD155 (DNAM-1 ligand), are often induced on virus-infected cells, although some viruses, including human CMV (HCMV), can block their expression. In this study, we report that infection of different cell types with laboratory or low-passage HCMV strains upregulated MICA, ULBP3, and PVR, with NKG2D and DNAM-1 playing a role in NK cell-mediated lysis of infected cells...
October 12, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Evandro Fei Fang, Henok Kassahun, Deborah L Croteau, Morten Scheibye-Knudsen, Krisztina Marosi, Huiming Lu, Raghavendra A Shamanna, Sumana Kalyanasundaram, Ravi Chand Bollineni, Mark A Wilson, Wendy B Iser, Bradley N Wollman, Marya Morevati, Jun Li, Jesse S Kerr, Qiping Lu, Tyler B Waltz, Jane Tian, David A Sinclair, Mark P Mattson, Hilde Nilsen, Vilhelm A Bohr
Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by progressive neurodegeneration and cerebellar ataxia. A-T is causally linked to defects in ATM, a master regulator of the response to and repair of DNA double-strand breaks. The molecular basis of cerebellar atrophy and neurodegeneration in A-T patients is unclear. Here we report and examine the significance of increased PARylation, low NAD(+), and mitochondrial dysfunction in ATM-deficient neurons, mice, and worms. Treatments that replenish intracellular NAD(+) reduce the severity of A-T neuropathology, normalize neuromuscular function, delay memory loss, and extend lifespan in both animal models...
October 11, 2016: Cell Metabolism
Claire L Shovlin, Trishan Patel, James E Jackson
Pulmonary AVM embolisation appears to improve nosebleed severity for nearly one in six people with HHT
April 2016: ERJ Open Research
R Ramadhenu, D Morkar, R Patil
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Bhagya Suneeta Meegada, Anupam Jena, S V Ramana Murthy, Haribabu N
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Trishan Patel, Amy Elphick, James E Jackson, Claire L Shovlin
OBJECTIVE: To evaluate if injection of intravenous particles may provoke migraines in subjects with right-to-left shunts due to pulmonary arteriovenous malformations (AVMs). BACKGROUND: Migraine headaches commonly affect people with hereditary hemorrhagic telangiectasia (HHT), especially those with pulmonary AVMs that provide right-to-left shunts. In our clinical practice, patients occasionally reported acute precipitation of migraine headaches following injection of technetium-labeled albumin macroaggregates for nuclear medicine scans...
October 11, 2016: Headache
J Tan, L Almeida, A Bewley, B Cribier, N Dlova, R Gallo, G Kautz, M Mannis, H Oon, M Rajagopalan, M Steinhoff, D Thiboutot, P Troielli, G Webster, Y Wu, E van Zuuren, M Schaller
BACKGROUND: Rosacea is currently diagnosed by consensus-defined primary and secondary features and managed by subtype. However, individual features (phenotypes) can span multiple subtypes, which has implications for clinical practice and research. Adopting a phenotype-led approach may facilitate patient-centred management. OBJECTIVES: To advance clinical practice by obtaining international consensus to establish a phenotype-led rosacea diagnosis and classification scheme with global representation...
October 8, 2016: British Journal of Dermatology
Michael A Santos
No abstract text is available yet for this article.
October 6, 2016: Journal of General Internal Medicine
Guozi Yang, Dehai Yu, Wei Li, Yuguang Zhao, Xue Wen, Xinyue Liang, Xiaoying Zhang, Lei Zhou, Jifan Hu, Chao Niu, Huimin Tian, Fujun Han, Xiao Chen, Lihua Dong, Lu Cai, Jiuwei Cui
Low-dose radiation (LDR) induces hormesis and adaptive response in normal cells but not in cancer cells, suggesting its potential protection of normal tissue against damage induced by conventional radiotherapy. However, the underlying mechanisms are not well established. We addressed this in the present study by examining the role of the ataxia telangiectasia mutated (ATM) signaling pathway in response to LDR using A549 human lung adenocarcinoma cells and HBE135-E6E7 (HBE) normal lung epithelial cells. We found that LDR-activated ATM was the initiating event in hormesis and adaptive response to LDR in HBE cells...
September 30, 2016: Oncotarget
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"