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Evan's syndrome

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https://www.readbyqxmd.com/read/29349831/aortic-dysfunction-in-metabolic-syndrome-mediated-by-perivascular-adipose-tissue-tnf%C3%AE-and-nox2-dependent-pathway
#1
Evan DeVallance, Kayla W Branyan, Kent Lemaster, I Mark Olfert, David M Smith, Emidio E Pistilli, Jefferson C Frisbee, Paul D Chantler
AIMS: Perivascular adipose tissue (PVAT) is recognized for its vaso-active effects, however it's unclear how Metabolic Syndrome impact thoracic-aorta (t)PVAT and the subsequent effect on functional and structural aortic stiffness. METHODS & RESULTS: Thoracic aorta and tPVAT were removed from 16-17 week old lean (LZR, n = 16) and obese Zucker (OZR, n = 16) rats. OZR presented with aortic endothelial dysfunction, assessed by wire-myography, and increased aortic stiffness, assessed by elastic modulus...
January 18, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29341268/evans-syndrome-secondary-to-undiagnosed-chronic-lymphocytic-leukemia-in-a-patient-with-unexplained-bleeding
#2
Christopher B Hergott, Olga Pozdnyakova
No abstract text is available yet for this article.
January 17, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29335897/splenectomy-in-systemic-lupus-erythematosus-and-autoimmune-hematologic-disease-a-comparative-analysis
#3
Nahim Barron, Jesús Arenas-Osuna, Gabriela Medina, María Pilar Cruz-Dominguez, Fernando González-Romero, José Arturo Velásques-García, Ernesto Alonso Ayala-López, Luis J Jara
The objective of the study is to analyze the efficacy and safety of splenectomy in the management of refractory autoimmune thrombocytopenia (AT)/autoimmune hemolytic anemia (AIHA) associated or not with systemic lupus erythematosus. Thirty-four patients after splenectomy due to severe AT and/or AIHA were divided into group 1 (G1) 18 SLE/APS patients: 9 AT/SLE patients, 6 SLE/antiphospholipid syndrome (APS), and 3 primary APS. Group 2 (G2): 16 patients without SLE/APS: 2 Fisher-Evans syndrome and 14 AIHA. Surgery approach when (1) platelets ≤ 50,000/ml despite 2 weeks on medical therapy, (2) medically dependent, and (3) medically intolerant or after two hemolytic crises in AIHA patients...
January 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29335036/individuals-with-currently-untreated-mental-illness-causal-beliefs-and-readiness-to-seek-help
#4
S Stolzenburg, S Freitag, S Evans-Lacko, S Speerforck, S Schmidt, G Schomerus
AIMS: Many people with mental illness do not seek professional help. Beliefs about the causes of their current health problem seem relevant for initiating treatment. Our aim was to find out to what extent the perceived causes of current untreated mental health problems determine whether a person considers herself/himself as having a mental illness, perceives need for professional help and plans to seek help in the near future. METHODS: In a cross-sectional study, we examined 207 untreated persons with a depressive syndrome, all fulfilling criteria for a current mental illness as confirmed with a structured diagnostic interview (Mini International Neuropsychiatric Interview)...
January 16, 2018: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#5
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29325523/fanconi-anemia-with-sun-sensitivity-caused-by-a-xeroderma-pigmentosum-associated-missense-mutation-in-xpf
#6
Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D Gareth Evans, Anja Raams, Arjan F Theil, Stefan Meyer, Detlev Schindler
BACKGROUND: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks. CASE PRESENTATION: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and remarkable sun-sensitivity is described. She only ever had mild haematological abnormalities and no history of malignancy...
January 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29318938/pitt-hopkins-syndrome-a-review-of-current-literature-clinical-approach-and-23-patient-case-series
#7
Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29300620/tp53-germline-variations-influence-the-predisposition-and-prognosis-of-b-cell-acute-lymphoblastic-leukemia-in-children
#8
Maoxiang Qian, Xueyuan Cao, Meenakshi Devidas, Wenjian Yang, Cheng Cheng, Yunfeng Dai, Andrew Carroll, Nyla A Heerema, Hui Zhang, Takaya Moriyama, Julie M Gastier-Foster, Heng Xu, Elizabeth Raetz, Eric Larsen, Naomi Winick, W Paul Bowman, Paul L Martin, Elaine R Mardis, Robert Fulton, Gerard Zambetti, Michael Borowitz, Brent Wood, Kim E Nichols, William L Carroll, Ching-Hon Pui, Charles G Mullighan, William E Evans, Stephen P Hunger, Mary V Relling, Mignon L Loh, Jun J Yang
Purpose Germline TP53 variation is the genetic basis of Li-Fraumeni syndrome, a highly penetrant cancer predisposition condition. Recent reports of germline TP53 variants in childhood hypodiploid acute lymphoblastic leukemia (ALL) suggest that this type of leukemia is another manifestation of Li-Fraumeni syndrome; however, the pattern, prevalence, and clinical relevance of TP53 variants in childhood ALL remain unknown. Patients and Methods Targeted sequencing of TP53 coding regions was performed in 3,801 children from the Children's Oncology Group frontline ALL clinical trials, AALL0232 and P9900...
January 4, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29281948/a-patient-with-oxaliplatin-immune-induced-syndrome-oiis-who-also-developed-leucovorin-and-palonosetron-associated-thrombocytopenia
#9
S A Curtis, B R Curtis, A I Lee, J E Hendrickson, J Lacy, N A Podoltsev
OBJECTIVES: We report a case of an 83 year old man who developed oxaliplatin immune-induced syndrome (OIIS) after his 19th cycle of FOLFOX (5FU, leucovorin, oxaliplatin). When oxaliplatin was omitted from his next cycle of chemotherapy he continues to show signs of drug-induced immune thrombocytopenia (DITP) and was found to have drug-dependent, platelet-reactive antibodies (DDPA) to leucovorin and palonosetron as well as oxaliplatin. METHODS: The patient was admitted for monitoring but required no transfusions and thrombocytopenia resolved without treatment during his first admission...
December 28, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29248206/current-and-newly-emerging-autoimmune-diseases
#10
REVIEW
Laurel J Gershwin
There are many autoimmune diseases that are recognized in domestic animals. The descriptions of diseases provide examples of the magnitude of immune targets and the variable nature of autoimmune diseases. Other autoimmune diseases that are recognized in dogs, cats, and horses include immune-mediated thrombocytopenia, VKH (Vogt-Koyanagi-Harada) ocular disease (dogs), and Evans syndrome (which includes both immune-mediated anemia and immune-mediated thrombocytopenia).
December 13, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/29247540/efficacy-and-safety-of-rituximab-for-systemic-lupus-erythematosus-associated-immune-cytopenias-a-multicenter-retrospective-cohort-study-of-71-adults
#11
Alexandra Serris, Zahir Amoura, Florence Canouï-Poitrine, Benjamin Terrier, Eric Hachulla, Nathalie Costedoat-Chalumeau, Thomas Papo, Olivier Lambotte, David Saadoun, Miguel Hié, Philippe Blanche, Bertrand Lioger, Jacques-Eric Gottenberg, Bertrand Godeau, Marc Michel
The aim of the study was to assess the efficacy and safety of rituximab (RTX) for treating systemic lupus erythematosus (SLE)-associated immune cytopenias. This multicenter retrospective cohort study of adults from French referral centers and networks for adult immune cytopenias and SLE involved patients ≥18 years old with a definite diagnosis of SLE treated with RTX specifically for SLE-associated immune cytopenia from 2005 to 2015. Response assessment was based on standard definitions. In total, 71 patients, 61 women (85...
December 16, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29244146/ezh2-mutations-found-in-the-weaver-overgrowth-syndrome-cause-a-partial-loss-of-h3k27-histone-methyltransferase-activity
#12
Julian C Lui, Kevin M Barnes, Lijin Dong, Shanna Yue, Evan Graber, Robert Rapaport, Andrew Dauber, Ola Nilsson, Jeffrey Baron
Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in EZH2, a histone methyltransferase responsible for H3K27 trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause Weaver syndrome. Objective: To test alternative hypotheses that EZH2 variants found in Weaver syndrome either cause a gain of function or a partial loss of function...
December 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29223724/vasoplegia-after-cardiovascular-procedures-pathophysiology-and-targeted-therapy
#13
REVIEW
Shahzad Shaefi, Aaron Mittel, John Klick, Adam Evans, Natalia S Ivascu, Jacob Gutsche, John G T Augoustides
Vasoplegic syndrome, characterized by low systemic vascular resistance and hypotension in the presence of normal or supranormal cardiac function, is a frequent complication of cardiovascular surgery. It is associated with a diffuse systemic inflammatory response and is mediated largely through cellular hyperpolarization, high levels of inducible nitric oxide, and a relative vasopressin deficiency. Cardiopulmonary bypass is a particularly strong precipitant of the vasoplegic syndrome, largely due to its association with nitric oxide production and severe vasopressin deficiency...
October 27, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29218325/protection-of-meconium-induced-lung-epithelial-injury-by-protease-inhibitors
#14
C Ota, I Gopallawa, V Ivanov, I H Gewolb, B D Uhal
Earlier work form this laboratory showed that exposure of alveolar epithelial cells (AECs) to meconium caused significant cell detachment and that meconium-induced detachment of cells was prevented by a protease inhibitor cocktail. Therefore, it was hypothesized that protease inhibitors might protect AEC monolayers against meconium-induced collapse of epithelial barrier function both in vitro and in vivo. To investigate this theory in vitro, albumin flux was measured across cultured, confluent monolayers of human type II derived cell line A549 on microporous filter inserts...
2017: Journal of Lung, Pulmonary & Respiratory Research
https://www.readbyqxmd.com/read/29217025/correlation-of-novel-pax6-gene-abnormalities-in-aniridia-and-clinical-presentation
#15
Naif S Sannan, Cheryl Y Gregory-Evans, Christopher J Lyons, Anna M Lehman, Sylvie Langlois, Simon J Warner, Helen Zakrzewski, Kevin Gregory-Evans
OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29210907/musculoskeletal-development-in-patients-with-down-syndrome
#16
Corey Dupre, Emily Weidman-Evans
Down syndrome is a chromosomal aneuploidy that results in disruptions in multiple body systems, including musculoskeletal function. Early intervention to focus on bone mineral density, gait correction, agility, balance, and muscle strength is imperative in order for patients to achieve maximum potential.
December 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/29209020/a-genotype-first-approach-identifies-an-intellectual-disability-overweight-syndrome-caused-by-phip-haploinsufficiency
#17
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Daniëlle G M Bosch, Ulla A Andersen, Carl Baker, Marijke Bauters, Raphael A Bernier, Bregje W van Bon, Hedi L Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J C Stevens, Connie T Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A Veltman, Han G Brunner, Heather C Mefford, Corrado Romano, Lisenka E L M Vissers, Evan E Eichler, Bert B A de Vries
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID...
December 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29205458/multi-disciplinary-management-of-refractory-insulinomas
#18
Emily Brown, Daniel Watkin, Jonathan Evans, Vincent Yip, Daniel J Cuthbertson
Insulinomas are predominantly benign (~90%), pancreatic neuroendocrine tumours characterised by hyperinsulinaemic hypoglycaemia. They usually present as a small (<2cm), well demarcated, solitary nodule that can arise in any part of the organ. Treatment of sporadic insulinomas is generally aimed at curative surgical resection with special consideration in genetic syndromes. Patients with significant hypoglycaemia can pose a difficult management challenge. In isolated cases where the patient is not medically fit for surgery or with metastatic spread, other treatment options are employed...
December 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29204512/brca-and-lynch-syndrome-associated-ovarian-cancers-behave-differently
#19
Neil A J Ryan, James Bolton, Rhona J McVey, D Gareth Evans, Emma J Crosbie
No abstract text is available yet for this article.
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/29188550/udp-induced-relaxation-is-enhanced-in-aorta-from-female-obese-otsuka-long-evans-tokushima-fatty-rats
#20
Shota Kobayashi, Takayuki Matsumoto, Makoto Ando, Maika Iguchi, Shun Watanabe, Kumiko Taguchi, Tsuneo Kobayashi
Uridine 5'-diphosphate (UDP) plays an important role in controlling vascular tone; however, UDP-mediated response in metabolic syndromes, including obesity and type 2 diabetes in females, remains unclear. In this study, we investigated UDP-mediated response in the aorta of female obese Otsuka Long-Evans Tokushima Fatty (OLETF) rats and control Long-Evans Tokushima Otsuka (LETO) rats. In OLETF rat aortas precontracted by phenylephrine (PE) (vs. LETO), (1) UDP-induced relaxation was increased, whereas acetylcholine (ACh)-induced relaxation was decreased; (2) no UDP- or ACh-induced relaxations were observed in endothelial denudation, whereas UDP-induced small contraction was observed; and (3) NG-nitro-L-arginine [L-NNA, a nitric oxide (NO) synthase inhibitor] eliminated UDP-induced relaxation and small contraction, whereas caused contrasting responses by ACh, including slight relaxations (LETO) and contractions (OLETF)...
November 29, 2017: Purinergic Signalling
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