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https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#1
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#2
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28440889/a-glucagon-like-peptide-1-analog-liraglutide-improves-visceral-sensation-and-gut-permeability-in-rats
#3
Tsukasa Nozu, Saori Miyagishi, Shima Kumei, Rintaro Nozu, Kaoru Takakusaki, Toshikatsu Okumura
BACKGROUND AND AIM: A glucagon-like peptide-1 (GLP-1) analog, liraglutide, has been reported to block inflammatory somatic pain. We hypothesized that liraglutide attenuates lipopolysaccharide (LPS)- and repeated water avoidance stress (WAS)-induced visceral hypersensitivity and tested the hypothesis in rats. METHODS: The threshold of the visceromotor response (VMR) induced by colonic balloon distention was measured to assess visceral sensation. Colonic permeability was determined in vivo by quantifying the absorbed Evans blue spectrophotometrically, which was instilled in the proximal colon for 15 min...
April 25, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28438206/exogenous-gene-transfer-of-rab-3-8-small-gtpase-ameliorates-aberrant-lung-surfactant-homeostasis-in-ruby-rats
#4
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
BACKGROUND: Rab(3)8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab(3)8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells...
April 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28433656/impaired-endothelium-derived-hyperpolarization-type-relaxation-in-superior-mesenteric-arteries-isolated-from-female-otsuka-long-evans-tokushima-fatty-rats
#5
Takayuki Matsumoto, Shota Kobayashi, Makoto Ando, Shun Watanabe, Maika Iguchi, Kumiko Taguchi, Tsuneo Kobayashi
Endothelium-derived hyperpolarization (EDH) is an important signaling mechanism of endothelium-dependent vasorelaxation, and little attention has been paid to the EDH-type responses in female metabolic syndrome such as that observed with type-2 diabetes. We previously reported that EDH-type relaxation was impaired in superior mesenteric arteries from male Otsuka Long-Evans Tokushima Fatty (OLETF) rat, a model of type-2 diabetes, however, the response was unclear in female OLETF rat. Thus, the aim of this study was to examine if EDH-type relaxation was altered in superior mesenteric arteries isolated from female OLETF rats compared to age-matched, control female Long-Evans Tokushima Otsuka (LETO) rats at age 50-59 weeks...
April 19, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#6
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28407870/edematous-dermatomyositis-with-probable-evans-syndrome
#7
M Á Flores-Terry, M García-Arpa, J Anino-Fernández, M D Mínguez-Sánchez
No abstract text is available yet for this article.
April 10, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28404991/intestinal-ppar%C3%AE-protects-against-diet-induced-obesity-insulin-resistance-and-dyslipidemia
#8
Marcela Doktorova, Irene Zwarts, Tim van Zutphen, Theo H van Dijk, Vincent W Bloks, Liesbeth Harkema, Alain de Bruin, Michael Downes, Ronald M Evans, Henkjan J Verkade, Johan W Jonker
Peroxisome proliferator-activated receptor δ (PPARδ) is a ligand-activated transcription factor that has an important role in lipid metabolism. Activation of PPARδ stimulates fatty acid oxidation in adipose tissue and skeletal muscle and improves dyslipidemia in mice and humans. PPARδ is highly expressed in the intestinal tract but its physiological function in this organ is not known. Using mice with an intestinal epithelial cell-specific deletion of PPARδ, we show that intestinal PPARδ protects against diet-induced obesity, insulin resistance and dyslipidemia...
April 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28399050/veptr-are-we-reducing-respiratory-assistance-requirements
#9
Sarah B Nossov, Evan Curatolo, Robert M Campbell, Oscar H Mayer, Sumeet Garg, Patrick J Cahill
BACKGROUND: The assisted ventilation rating (AVR) indicates the degree of external respiratory support required in children with thoracic insufficiency syndrome (TIS) and early onset scoliosis. For skeletally immature patients with TIS, the vertical expandable prosthetic titanium rib (VEPTR) device can be used to improve lung volume and growth. We hypothesized that patients who underwent early thoracic reconstruction by VEPTR treatment had an improved respiratory status. METHODS: Preoperative and postoperative AVR ratings were prospectively collected in a multicenter study group and compared with determine change after VEPTR treatment...
April 10, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28397326/diagnosis-and-management-of-neuropathies-associated-with-plasma-cell-dyscrasias
#10
REVIEW
Evan Rosenbaum, Douglas Marks, Shahzad Raza
Neuropathies associated with plasma cell dyscrasias are a major cause of morbidity for patients managed by medical oncologists. Because of similarities in clinical presentation and on nerve conduction studies, identifying the underlying disease leading to a paraproteinemic neuropathy can often be difficult. In addition, the degree of neurologic deficit does not strictly correlate with the extent of abnormalities on common clinical laboratory testing. Fortunately, with increasing understanding into the biologic mechanisms of underlying hematologic diseases, additional biomarkers have recently been developed, thus improving our diagnostic capacity...
April 10, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28391913/clinical-and-economic-consequences-of-statin-intolerance-in-the-united-states-results-from-an-integrated-health-system
#11
Jove H Graham, Robert J Sanchez, Joseph J Saseen, Usha G Mallya, Mary P Panaccio, Michael A Evans
BACKGROUND: Although statins are considered safe and effective, they have been associated with statin intolerance (SI) in clinical and observational studies. OBJECTIVE: The objective of this study was to describe the clinical and economic consequences of SI through comparison of an SI cohort of patients with matched controls. METHODS: This study used data extracted from an integrated health system's electronic health records from 2008 to 2014...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28388435/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#12
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
No abstract text is available yet for this article.
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28385306/detection-of-atherosclerotic-inflammation-by-68-ga-dotatate-pet-compared-to-18-f-fdg-pet-imaging
#13
Jason M Tarkin, Francis R Joshi, Nicholas R Evans, Mohammed M Chowdhury, Nichola L Figg, Aarti V Shah, Lakshi T Starks, Abel Martin-Garrido, Roido Manavaki, Emma Yu, Rhoda E Kuc, Luigi Grassi, Roman Kreuzhuber, Myrto A Kostadima, Mattia Frontini, Peter J Kirkpatrick, Patrick A Coughlin, Deepa Gopalan, Tim D Fryer, John R Buscombe, Ashley M Groves, Willem H Ouwehand, Martin R Bennett, Elizabeth A Warburton, Anthony P Davenport, James H F Rudd
BACKGROUND: Inflammation drives atherosclerotic plaque rupture. Although inflammation can be measured using fluorine-18-labeled fluorodeoxyglucose positron emission tomography ([(18)F]FDG PET), [(18)F]FDG lacks cell specificity, and coronary imaging is unreliable because of myocardial spillover. OBJECTIVES: This study tested the efficacy of gallium-68-labeled DOTATATE ((68)Ga-DOTATATE), a somatostatin receptor subtype-2 (SST2)-binding PET tracer, for imaging atherosclerotic inflammation...
April 11, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28381238/homozygous-germ-line-mutation-of-the-pms2-mismatch-repair-gene-a-unique-case-report-of-constitutional-mismatch-repair-deficiency-cmmrd
#14
N C Ramchander, N A J Ryan, E J Crosbie, D G Evans
BACKGROUND: Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations have a dysfunctional mismatch repair system from birth; as a result, constitutional mismatch repair deficiency syndrome is characterised by early onset malignancies. Fewer than 150 cases have been reported in the literature over the past 20 years. This is the first report of the founder PMS2 mutation - NM_000535...
April 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28369969/a-rare-potentially-life-threatening-presentation-of-passenger-lymphocyte-syndrome
#15
Thomas J Gniadek, Andrea M McGonigle, R Sue Shirey, Patricia A Brunker, Michael Streiff, Benjamin Philosophe, Evan M Bloch, Paul M Ness, Karen E King
BACKGROUND: Passenger lymphocyte syndrome occurs when donor lymphocytes are transplanted with a solid organ and produce alloantibodies that react with antigens on the recipient's red blood cells (RBCs). Typically, passenger lymphocyte syndrome presents as immunoglobulin G antibody-mediated, extravascular hemolytic anemia with reticulocytosis. Often, the donor was alloimmunized before transplantation. CASE REPORT: A 34-year-old Group O, D+ man with a negative antibody screen received a liver transplant from a Group O, D- donor...
May 2017: Transfusion
https://www.readbyqxmd.com/read/28369611/attacking-heterogeneity-in-schizophrenia-by-deriving-clinical-subgroups-from-widely-available-symptom-data
#16
Dwight Dickinson, Danielle N Pratt, Evan J Giangrande, MeiLin Grunnagle, Jennifer Orel, Daniel R Weinberger, Joseph H Callicott, Karen F Berman
Previous research has identified (1) a "deficit" subtype of schizophrenia characterized by enduring negative symptoms and diminished emotionality and (2) a "distress" subtype associated with high emotionality-including anxiety, depression, and stress sensitivity. Individuals in deficit and distress categories differ sharply in development, clinical course and behavior, and show distinct biological markers, perhaps signaling different etiologies. We tested whether deficit and distress subtypes would emerge from a simple but novel data-driven subgrouping analysis, based on Positive and Negative Syndrome Scale (PANSS) negative and distress symptom dimensions, and whether subgrouping was informative regarding other facets of behavior and brain function...
March 20, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28351027/re-thinking-elective-single-embryo-transfer-increased-risk-of-monochorionic-twinning-a-systematic-review
#17
Margaret Dziadosz, Mark I Evans
BACKGROUND/OBJECTIVES: Multiple pregnancies have tripled in the United States over the past 3 decades. Attributed to increasing maternal age at delivery but more so assisted reproductive technological advances, an effort has been made to decrease twinning through elective single embryo transfer. We sought to review and evaluate risks of monochorionic twinning as a predictable consequence of increasing utilization of elective single embryo transfer on perinatal outcomes. Primary outcomes included twinning rates, fetal anomalies, growth, preterm birth, and mortality...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28350903/advancing-diagnostics-to-address-antibacterial-resistance-the-diagnostics-and-devices-committee-of-the-antibacterial-resistance-leadership-group
#18
Ephraim L Tsalik, Elizabeth Petzold, Barry N Kreiswirth, Robert A Bonomo, Ritu Banerjee, Ebbing Lautenbach, Scott R Evans, Kimberly E Hanson, Jeffrey D Klausner, Robin Patel
Diagnostics are a cornerstone of the practice of infectious diseases. However, various limitations frequently lead to unmet clinical needs. In most other domains, diagnostics focus on narrowly defined questions, provide readily interpretable answers, and use true gold standards for development. In contrast, infectious diseases diagnostics must contend with scores of potential pathogens, dozens of clinical syndromes, emerging pathogens, rapid evolution of existing pathogens and their associated resistance mechanisms, and the absence of gold standards in many situations...
March 15, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28343885/carpal-tunnel-syndrome-impairs-index-finger-responses-to-unpredictable-perturbations
#19
Emily L Grandy, Kaihua Xiu, Tamara L Marquardt, Chengliu Li, Peter J Evans, Zong-Ming Li
The fine-tuning of digit forces to object properties can be disrupted by carpal tunnel syndrome (CTS). CTS' effects on hand function have mainly been investigated using predictable manipulation tasks; however, unpredictable perturbations are commonly encountered during manual tasks, presenting situations which may be more challenging to CTS patients given their hand impairments. The purpose of this study was to investigate muscle and force responses of the index finger to unpredictable perturbations in patients with CTS...
March 16, 2017: Journal of Electromyography and Kinesiology
https://www.readbyqxmd.com/read/28333981/lipopolysaccharide-induced-endotoxemia-in-corn-oil-preloaded-mice-causes-an-extended-course-of-lung-injury-and-repair-and-pulmonary-fibrosis-a-translational-mouse-model-of-acute-respiratory-distress-syndrome
#20
Chaomin Wu, Colin E Evans, Zhiyu Dai, Xiaojia Huang, Xianming Zhang, Hua Jin, Guochang Hu, Yuanlin Song, You-Yang Zhao
Acute respiratory distress syndrome (ARDS) is characterized by acute hypoxemia respiratory failure, bilateral pulmonary infiltrates, and pulmonary edema of non-cardiac origin. Effective treatments for ARDS patients may arise from experimental studies with translational mouse models of this disease that aim to delineate the mechanisms underlying the disease pathogenesis. Mouse models of ARDS, however, can be limited by their rapid progression from injured to recovery state, which is in contrast to the course of ARDS in humans...
2017: PloS One
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