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Evan's syndrome

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https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28333910/establishing-a-timeline-to-discontinue-routine-testing-of-asymptomatic-pregnant-women-for-zika-virus-infection-american-samoa-2016-2017
#16
W Thane Hancock, Heidi M Soeters, Susan L Hills, Ruth Link-Gelles, Mary E Evans, W Randolph Daley, Emily Piercefield, Magele Scott Anesi, Mary Aseta Mataia, Anaise M Uso, Benjamin Sili, Aifili John Tufa, Jacqueline Solaita, Elizabeth Irvin-Barnwell, Dana Meaney-Delman, Jason Wilken, Paul Weidle, Karrie-Ann E Toews, William Walker, Phillip M Talboy, William K Gallo, Nevin Krishna, Rebecca L Laws, Megan R Reynolds, Alaya Koneru, Carolyn V Gould
The first patients with laboratory-confirmed cases of Zika virus disease in American Samoa had symptom onset in January 2016 (1). In response, the American Samoa Department of Health (ASDoH) implemented mosquito control measures (1), strategies to protect pregnant women (1), syndromic surveillance based on electronic health record (EHR) reports (1), Zika virus testing of persons with one or more signs or symptoms of Zika virus disease (fever, rash, arthralgia, or conjunctivitis) (1-3), and routine testing of all asymptomatic pregnant women in accordance with CDC guidance (2,3)(...
March 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28314927/enhanced-podocyte-vesicle-transport-in-the-nephrotic-rat
#17
Akihiro Tojo, Saaya Hatakeyama, Satoshi Kinugasa, Satoru Fukuda, Toshio Sakai
Albumin endocytosis is enhanced in the podocytes of minimal change nephrotic syndrome. We investigated that the endocytic vesicle transport in the podocyte using three-dimensional observation in a rat model of puromycin aminonucleoside (PAN)-induced nephrotic syndrome. At day 7, Evans Blue-labeled albumin was intravenously injected in PAN rats, and one kidney was fixed for a morphological analysis; the other was used for the isolation of glomeruli through sieving and protein analyses. Evans Blue-labeled albumin was found to accumulate in an increased number of vesicles in the podocytes of PAN rat...
March 17, 2017: Medical Molecular Morphology
https://www.readbyqxmd.com/read/28295246/pourfour-du-petit-syndrome-associated-with-right-eye-pressure
#18
Randolph W Evans, Adam Garibay, Rod Foroozan
Pourfour du Petit (PDP) syndrome is a rare disorder characterized by ipsilateral mydriasis, eyelid retraction, and hemifacial hyperhidrosis caused by hyperactivity of the ipsilateral oculosympathetic pathway. A case is presented of PDP syndrome associated with likely ipsilateral occipital neuralgia. We review the causes and co-morbidities and the clinical features of PDP.
March 13, 2017: Headache
https://www.readbyqxmd.com/read/28277466/early-results-of-surgical-management-of-camptodactyly
#19
Brady T Evans, Peter M Waters, Donald S Bae
BACKGROUND: We hypothesize that surgery for moderate-to-severe camptodactyly (>50 degrees) results in modest gains in range of motion and improved digital position. METHODS: A retrospective analysis of patients undergoing surgery for camptodactyly at a tertiary children's hospital between 2000 and 2014 was performed. Surgery was indicated for patients with persistent, functionally limiting flexion contractures despite observation, therapy, and splinting. Data were collected on demographics, clinical history and presentation, nonoperative management, surgery, and clinical follow-up, focusing on range of motion at the involved joint...
March 8, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28267088/sirolimus-as-an-effective-agent-in-the-treatment-of-immune-thrombocytopenia-itp-and-evans-syndrome-es-a-single-institution-s-experience
#20
Sylwia Jasinski, Mark E Weinblatt, Chana L Glasser
BACKGROUND: Autoimmune cytopenias are characterized by immune-mediated destruction of hematopoietic cell lines with immune thrombocytopenia (ITP) affecting platelets and Evans syndrome (ES) affecting platelets and red blood cells. For patients with persistent disease, limited options for effective and well-tolerated therapies exist. OBJECTIVES: Our aim is to describe our institution's experience with sirolimus as therapy for pediatric patients with persistent ITP and ES...
March 6, 2017: Journal of Pediatric Hematology/oncology
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