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Telangiectasia

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https://www.readbyqxmd.com/read/29327725/whole-genome-sequencing-reveals-principles-of-brain-retrotransposition-in-neurodevelopmental-disorders
#1
Jasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, Jonathan Roth, Karen Cesarkas, Chen Dor, Sarit Farage-Barhom, Vered Kunik, Amos J Simon, Moran Gal, Michal Yalon, Sharon Moshitch-Moshkovitz, Rick Tearle, Shlomi Constantini, Erez Y Levanon, Ninette Amariglio, Gideon Rechavi
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains...
January 12, 2018: Cell Research
https://www.readbyqxmd.com/read/29317520/atm-directs-dna-damage-responses-and-proteostasis-via-genetically-separable-pathways
#2
Ji-Hoon Lee, Michael R Mand, Chung-Hsuan Kao, Yi Zhou, Seung W Ryu, Alicia L Richards, Joshua J Coon, Tanya T Paull
The protein kinase ATM is a master regulator of the DNA damage response but also responds directly to oxidative stress. Loss of ATM causes ataxia telangiectasia, a neurodegenerative disorder with pleiotropic symptoms that include cerebellar dysfunction, cancer, diabetes, and premature aging. We genetically separated the activation of ATM by DNA damage from that by oxidative stress using separation-of-function mutations. We found that deficient activation of ATM by the Mre11-Rad50-Nbs1 complex and DNA double-strand breaks resulted in loss of cell viability, checkpoint activation, and DNA end resection in response to DNA damage...
January 9, 2018: Science Signaling
https://www.readbyqxmd.com/read/29316798/regulation-of-mitophagy-by-the-ubiquitin-pathway-in-neurodegenerative-diseases
#3
Shyamal Desai, Meredith Juncker, Catherine Kim
Mitophagy is a cellular process by which dysfunctional mitochondria are degraded via autophagy. Increasing empirical evidence proposes that this mitochondrial quality-control mechanism is defective in neurons of patients with various neurodegenerative diseases such as Ataxia Telangiectasia, Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis. Accumulation of defective mitochondria and the production of reactive oxygen species due to defective mitophagy have been identified as causes underlying neurodegenerative disease pathogenesis...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29313900/dermoscopy-of-arteriovenous-tumour-a-morphological-study-of-39-cases
#4
Pedro Zaballos, Carolina Medina, Luis J Del Pozo, Ignacio Gómez-Martín, José Bañuls
BACKGROUND/OBJECTIVES: Arteriovenous tumour is a distinct, benign, acquired vascular lesion that can be misdiagnosed. METHODS: A dermoscopic examination of 39 cases of arteriovenous tumours collected from four Spanish hospitals was performed to evaluate specific dermoscopic criteria and patterns. RESULTS: The most common structures found were vascular, 95% of cases (37/39); 90% (35/39) were non-arborising telangiectasia. All the lesions except two (95%) had a homogeneous pigmentation background that was red in 30 cases (77%), bluish-red in three (8%), brown in two (5%) and blue or multicoloured in one case each...
January 5, 2018: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#5
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29311308/dna-double-strand-break-response-factors-influence-end-joining-features-of-igh-class-switch-and-general-translocation-junctions
#6
Rohit A Panchakshari, Xuefei Zhang, Vipul Kumar, Zhou Du, Pei-Chi Wei, Jennifer Kao, Junchao Dong, Frederick W Alt
Ig heavy chain (IgH) class switch recombination (CSR) in B lymphocytes switches IgH constant regions to change antibody functions. CSR is initiated by DNA double-strand breaks (DSBs) within a donor IgH switch (S) region and a downstream acceptor S region. CSR is completed by fusing donor and acceptor S region DSB ends by classical nonhomologous end-joining (C-NHEJ) and, in its absence, by alternative end-joining that is more biased to use longer junctional microhomologies (MHs). Deficiency for DSB response (DSBR) factors, including ataxia telangiectasia-mutated (ATM) and 53BP1, variably impair CSR end-joining, with 53BP1 deficiency having the greatest impact...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29305977/functional-analysis-of-a-novel-eng-variant-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-hht-identifies-a-new-sp1-binding-site
#7
Sara Plumitallo, Lidia Ruiz-Llorente, Carmen Langa, Jacopo Morini, Gabriele Babini, Donata Cappelletti, Laura Scelsi, Alessandra Greco, Cesare Danesino, Carmelo Bernabeu, Carla Olivieri
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or ACVRL1, which code for ENDOGLIN and Activin A Receptor Type II-Like Kinase 1 (ALK1), belonging to the TGF-β/BMP signalling pathway. Typical HHT clinical features are mucocutaneous telangiectases, arteriovenous malformations, spontaneous and recurrent epistaxis, as well as gastrointestinal bleedings...
January 3, 2018: Gene
https://www.readbyqxmd.com/read/29302370/atm-signaling-pathway-is-implicated-in-the-smyd3-mediated-proliferation-and-migration-of-gastric-cancer-cells
#8
Lei Wang, Qiu-Tong Wang, Yu-Peng Liu, Qing-Qing Dong, Hai-Jie Hu, Zhi Miao, Shuang Li, Yong Liu, Hao Zhou, Tong-Cun Zhang, Wen-Jian Ma, Xue-Gang Luo
Purpose: We previously found that the histone methyltransferase suppressor of variegation, enhancer of zeste, trithorax and myeloid-nervy-deformed epidermal autoregulatory factor-1 domain-containing protein 3 (SMYD3) is a potential independent predictive factor or prognostic factor for overall survival in gastric cancer patients, but its roles seem to differ from those in other cancers. Therefore, in this study, the detailed functions of SMYD3 in cell proliferation and migration in gastric cancer were examined...
December 2017: Journal of Gastric Cancer
https://www.readbyqxmd.com/read/29297940/oral-mucosa-lesions-and-gingival-bleeding-can-indicate-the-progression-of-liver-disease-in-children-and-adolescents-aged-two-to-18-years
#9
Dorota Olczak-Kowalczyk, Ewa Krasuska-Sławińska, Dariusz Gozdowski, Wojciech Kowalczyk, Joanna Pawłowska
AIM: This study assessed correlations between systemic disturbances of paediatric chronic liver diseases (CLD) and oral symptoms in subjects aged 2-18 years. METHODS: It was carried out during outpatient appointments at the Children's Memorial Health Institute, Warsaw, Poland, from 2010-2015 and comprised 52 CLD patients with a mean age of 12.3 ±4.6. We also recruited 54 generally healthy controls with a mean age of 12.0 ±3.7 from the Department of Paediatric Dentistry at the Medical University of Warsaw...
January 3, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29296924/t-cell-prolymphocytic-leukemia-in-an-adolescent-with-ataxia-telangiectasia-novel-approach-with-a-jak3-inhibitor-tofacitinib
#10
Geling Li, Emily Waite, Julie Wolfson
A 19-year-old ataxia-telangiectasia patient with T-cell prolymphocytic leukemia harbored 2 JAK3-activating hotspot mutations.The patient suffered toxicities with chemotherapy, but demonstrated a clinical response to novel use of a JAK3 inhibitor (tofacitinib).
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295777/hereditary-haemorrhagic-telangiectasia-in-pregnancy-regional-and-general-anaesthesia
#11
M Crawford, R Burns, S Cooper, T Mackay
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is a rare autosomal dominant multisystem disorder, characterised by mucocutaneous telangiectases and arteriovenous malformations affecting any organ. The physiological changes in pregnancy pose significant obstetric and anaesthetic challenges for women affected by the disease. The optimal timing and mode of delivery requires careful consideration; and the benefits and risks of both regional and general anaesthetic techniques must be carefully considered, depending on the organs affected...
November 13, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29290356/long-term-nutritional-and-gastrointestinal-aspects-in-patients-with-ataxia-telangiectasia
#12
Alexander Krauthammer, Avishay Lahad, Yifat Sarouk, Raz Somech, Andreea Nissenkorn, Dalit Modan-Moses, Hila Levi-Kidron, Tal Sadeh-Kon, Batia Weiss
OBJECTIVE: Ataxia telangiectasia (A-T) is a rare genetic disease involving multiple organs, but, to our knowledge, data on long-term gastrointestinal and nutritional involvement are scarce. The aim of this study was to longitudinally review the nutritional and gastrointestinal aspects of A-T. METHODS: This was a retrospective chart review of patients followed from 1986 to 2015 at one center. Demographic, laboratory, and nutritional data were retrieved. Body mass index (BMI) values were converted to BMI Z-score (BMI-Z)...
February 2018: Nutrition
https://www.readbyqxmd.com/read/29288088/telangiectasias-in-ataxia-telangiectasia-clinical-significance-role-of-atm-deficiency-and-potential-pathophysiological-mechanisms
#13
M H D Schoenaker, N J H Van Os, M Van der Flier, M Van Deuren, M M Seyger, A M R Taylor, C M R Weemaes, M A A P Willemsen
Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications, the telangiectasias are under emphasised. We here describe the observation that the absence or presence of ATM protein and the level of residual ATM kinase activity are related to the occurrence of telangiectasias and describe the clinical consequences of these vascular malformations...
December 26, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29285139/ganoderma-lucidum-polysaccharide-enhances-radiosensitivity-of-hepatocellular-carcinoma-cell-line-hepg2-through-akt-signaling-pathway
#14
Yang Yu, Liqi Qian, Nan Du, Yuxiao Liu, Xiao Zhao, Xin Zhang
Ganoderma lucidum polysaccharide (GLP) is a well-known traditional Chinese medicine, known for its anti-cancer and immunomodulatory properties. The present study aims to investigate whether GLP has a therapeutic effect on hepatocellular carcinoma (HCC) cells exposed to radiation. Immunofluorescence was used to detect the nuclei, the protein expression was measured by western blot analysis and flow cytometry was used to detect the rate of cell apoptosis. GLP treatment was demonstrated to enhance radiation-induced growth inhibition and apoptotic death of HCC cells...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29281110/surgical-treatment-vs-nonsurgical-treatment-for-brain-arteriovenous-malformations-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-retrospective-multicenter-consortium-study
#15
https://www.readbyqxmd.com/read/29280173/7-hydroxy-staurosporine-ucn-01-induces-dna-damage-response-and-autophagy-in-human-osteosarcoma-u2-os-cells
#16
Wei-Chih Lien, Ting-Yu Chen, Shi-Yuan Sheu, Tzu-Chien Lin, Fu-Chi Kang, Chung-Hsing Yu, Ta-Shen Kuan, Bu-Miin Huang, Chia-Yih Wang
Human osteosarcoma (bone cancer) is a highly malignant and the most prevalent bone tumor affecting children. Despite recent advances in the understanding of the molecular mechanism by which anticancer drugs kill osteosarcoma or block its growth, however, the mortality rate has declined only modestly. Thus, a new therapeutic approach is needed to be established. 7-hydroxystaurosporine, UCN-01, abrogates the G2 checkpoint thus enhancing the cytotoxicity of chemotherapeutic agents. In addition, it has been evaluated in clinical trials as a single antineoplastic agent in treating several cancers...
December 26, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29279380/atm-and-atr-play-complementary-roles-in-the-behavior-of-excitatory-and-inhibitory-vesicle-populations
#17
Aifang Cheng, Teng Zhao, Kai-Hei Tse, Hei-Man Chow, Yong Cui, Liwen Jiang, Shengwang Du, Michael M T Loy, Karl Herrup
ATM (ataxia-telangiectasia mutated) and ATR (ATM and Rad3-related) are large PI3 kinases whose human mutations result in complex syndromes that include a compromised DNA damage response (DDR) and prominent nervous system phenotypes. Both proteins are nuclear-localized in keeping with their DDR functions, yet both are also found in cytoplasm, including on neuronal synaptic vesicles. In ATM- or ATR-deficient neurons, spontaneous vesicle release is reduced, but a drop in ATM or ATR level also slows FM4-64 dye uptake...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29274888/echocardiography-grading-for-pulmonary-arteriovenous-malformation-screening-in-children-with-hereditary-hemorrhagic-telangiectasia
#18
Nigel Fernandopulle, Luc Mertens, Michelle Klingel, David Manson, Felix Ratjen
Transthoracic contrast echocardiography (TTCE) has high sensitivity but low specificity in screening for pulmonary arteriovenous malformations (pAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). Here we describe characteristics of TTCE that might be used to reduce the need for confirmatory computed tomography scans in children with HHT.
December 20, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29258953/molecular-chemotherapeutic-potential-of-butein-a-concise-review
#19
REVIEW
Rajapaksha Gedara Prasad Tharanga Jayasooriya, Ilandarage Menu Neelaka Molagoda, Cheol Park, Jin-Woo Jeong, Yung Hyun Choi, Dong-Oh Moon, Mun-Ock Kim, Gi-Young Kim
Butein is a biologically active flavonoid isolated from the bark of Rhus verniciflua Stokes, which is known to have therapeutic potential against various cancers. Notably, butein inhibits cancer cell growth by inducing G2/M phase arrest and apoptosis. Butein-induced G2/M phase arrest is associated with increased phosphorylation of ataxia telangiectasia mutated (ATM) and Chk1/2, and consequently, with reduced cdc25C levels. In addition, butein-induced apoptosis is mediated through the activation of caspase-3, which is associated with changes in the expression of Bcl-2 and Bax proteins...
December 16, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29250697/two-girl-patients-with-medulloblastoma-case-reports
#20
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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