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Morgan syndrome

Juliann M Mellin, Sankaraleengam Alagapan, Caroline Lustenberger, Courtney E Lugo, Morgan L Alexander, John H Gilmore, L Fredrik Jarskog, Flavio Fröhlich
BACKGROUND: Approximately 30% of patients with schizophrenia experience auditory hallucinations that are refractory to antipsychotic medications. Here, we evaluated the feasibility and efficacy of transcranial alternating current stimulation (tACS) that we hypothesized would improve auditory hallucination symptoms by enhancing synchronization between the frontal and temporo-parietal areas of the left hemisphere. METHOD: 22 participants were randomized to one of three arms and received twice daily, 20 min sessions of sham, 10 Hz 2 mA peak-to-peak tACS, or 2 mA tDCS over the course of 5 consecutive days...
March 10, 2018: European Psychiatry: the Journal of the Association of European Psychiatrists
Morgan Anyla, Jérémie H Lefevre, Ben Creavin, Chrystelle Colas, Magali Svrcek, Olivier Lascols, Clotilde Debove, Najim Chafai, Emmanuel Tiret, Yann Parc
PURPOSE: Regular follow-up for patients with Lynch syndrome (LS) is vital due to the increased risk of colorectal (50-80%), endometrial (40-60%), and other cancers. However, there is an ongoing debate concerning the best interval between colonoscopies. Currently, no specific endoscopic follow-up has been decided for LS patients who already have an index colorectal cancer (CRC). The aim of this study was to evaluate the risk of metachronous cancers (MC) after primary CRC in a LS population and to determinate if endoscopic surveillance should be more intensive...
March 12, 2018: International Journal of Colorectal Disease
Morgan Bowling, Tyler Schmutzler, Sarah Glick
Mycoplasma pneumoniae is a frequent cause of childhood pneumonia, and extrapulmonary manifestations may be noted at the time of infection. While M. pneumoniae has long been associated with Stevens-Johnson syndrome, a separate diagnostic entity, Mycoplasma pneumoniae- induced rash and mucositis (MIRM), has recently been proposed to better characterize the rash and severe mucositis that some patients exhibit. A subset of patients with MIRM will have mucositis without skin rash. Physicians should recognize this clinical entity and be familiar with treatment options for MIRM...
March 2018: Clinical Case Reports
Julia M Lappin, Muhammad H Ayub, David Rogers, Madeleine Morgan, Jean-Yves Kanyamibwa, Anthony Shakeshaft
OBJECTIVE: To evaluate the effectiveness of a routine screening and triage tool for alcohol withdrawal syndrome (AWS) in improving clinical care delivery in an ED setting. METHODS: In a regional ED in Australia, a screening and triage tool for AWS was introduced to routine ED assessment for a 13 week period. Subjects were all presentations to ED aged 16 and above with relevant presenting problems during the pre-intervention phase (1 January 2015-31 December 2016) and the post-intervention phase (8 August 2016-4 November 2016)...
March 12, 2018: Emergency Medicine Australasia: EMA
John H T Waldhausen, Morgan Richards
Cystic fibrosis is one of the most common inheritable traits in Caucasians. Meconium ileus and its potential complications are the most likely reasons that these patients will need surgical care. Surgical intervention is usually needed in the neonatal period but may also be required later in life. This article discusses the various ways cystic fibrosis can affect the gastrointestinal tract. Both the operative and nonoperative management of complicated and uncomplicated meconium ileus are discussed in the neonatal period as well as long-term issues, such as distal intestinal obstructive syndrome, fibrosing colonopathy, and rectal prolapse, all of which may be seen in older children and adults...
March 2018: Clinics in Colon and Rectal Surgery
Eva Kapravelou, David Anderson, Gareth J Morgan
The use of hybrid techniques to avoid neonatal cardiopulmonary bypass in high-risk individuals is well reported in the setting of hypoplastic left heart syndrome. We describe the use of that technique as a bridging procedure in high-risk neonates with an interrupted aortic arch. We report three cases where hybrid branch pulmonary artery banding and ductal stent implantation has been successfully used to defer complete repair, allowing recovery, maturity, and weight gain. This strategy may be considered for patients deemed at high risk for primary neonatal repair...
March 2018: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
Alexandra Arreola, Laura Beth Payne, Morgan H Julian, Aguirre A de Cubas, Anthony B Daniels, Sarah Taylor, Huaning Zhao, Jordan Darden, Victoria L Bautch, W Kimryn Rathmell, John C Chappell
Von Hippel-Lindau (VHL) gene mutations induce neural tissue hemangioblastomas, as well as highly vascularized clear cell renal cell carcinomas (ccRCCs). Pathological vessel remodeling arises from misregulation of HIFs and VEGF, among other genes. Variation in disease penetrance has long been recognized in relation to genotype. We show Vhl mutations also disrupt Notch signaling, causing mutation-specific vascular abnormalities, e.g., type 1 (null) vs. type 2B (murine G518A representing human R167Q). In conditional mutation retina vasculature, Vhl-null mutation (i...
February 22, 2018: JCI Insight
Valérie Vilgrain, Valérie Paradis, Morgane Van Wettere, Dominique Valla, Maxime Ronot, Pierre-Emmanuel Rautou
A variety of vascular liver disorders can induce hepatocellular tumors. They may be related to portal venous deprivation, venous outflow obstruction, or arterial diseases. Their common feature is an imbalance between hepatic arterial and portal venous blood flow leading to an increased hepatic arterial inflow. Consequently, hepatocellular tumors may arise, most commonly focal nodular hyperplasia-like lesions but hepatocellular adenomas and hepatocellular carcinoma may be seen as well. This article will review the most common vascular liver diseases associated with hepatocellular nodules (Budd-Chiari syndrome, congenital portosystemic shunt, hereditary hemorrhagic telangiectasia, and portal cavernoma)...
February 19, 2018: Abdominal Radiology
Wioleta M Zelek, Lewis M Watkins, Owain W Howell, Rhian Evans, Sam Loveless, Neil P Robertson, Marijke Beenes, Loek Willems, Ricardo Brandwijk, B Paul Morgan
BACKGROUND: CD59, a broadly expressed glycosylphosphatidylinositol-anchored protein, is the principal cell inhibitor of complement membrane attack on cells. In the demyelinating disorders, multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), elevated complement protein levels, including soluble CD59 (sCD59), were reported in cerebrospinal fluid (CSF). OBJECTIVES: We compared sCD59 levels in CSF and matched plasma in controls and patients with MS, NMOSD and clinically isolated syndrome (CIS) and investigated the source of CSF sCD59 and whether it was microparticle associated...
February 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Kaixiang Cao, Clayton K Collings, Marc A Morgan, Stacy A Marshall, Emily J Rendleman, Patrick A Ozark, Edwin R Smith, Ali Shilatifard
Chromatin regulators control cellular differentiation by orchestrating dynamic developmental gene expression programs, and hence, malfunctions in the regulation of chromatin state contribute to both developmental disorders and disease state. Mll4 (Kmt2d), a member of the COMPASS (COMplex of Proteins ASsociated with Set1) protein family that implements histone H3 lysine 4 monomethylation (H3K4me1) at enhancers, is essential for embryonic development and functions as a pancancer tumor suppressor. We define the roles of Mll4/COMPASS and its catalytic activity in the maintenance and exit of ground-state pluripotency in murine embryonic stem cells (ESCs)...
January 2018: Science Advances
Todd N Troxell, Meghan A Piccinin, Collin M Smith, Morgan E Parsons, G Scott Drew
No abstract text is available yet for this article.
January 29, 2018: International Journal of Dermatology
Alec J Hirsch, Victoria H J Roberts, Peta L Grigsby, Nicole Haese, Matthias C Schabel, Xiaojie Wang, Jamie O Lo, Zheng Liu, Christopher D Kroenke, Jessica L Smith, Meredith Kelleher, Rebecca Broeckel, Craig N Kreklywich, Christopher J Parkins, Michael Denton, Patricia Smith, Victor DeFilippis, William Messer, Jay A Nelson, Jon D Hennebold, Marjorie Grafe, Lois Colgin, Anne Lewis, Rebecca Ducore, Tonya Swanson, Alfred W Legasse, Michael K Axthelm, Rhonda MacAllister, Ashlee V Moses, Terry K Morgan, Antonio E Frias, Daniel N Streblow
Zika virus (ZIKV) infection during pregnancy leads to an increased risk of fetal growth restriction and fetal central nervous system malformations, which are outcomes broadly referred to as the Congenital Zika Syndrome (CZS). Here we infect pregnant rhesus macaques and investigate the impact of persistent ZIKV infection on uteroplacental pathology, blood flow, and fetal growth and development. Despite seemingly normal fetal growth and persistent fetal-placenta-maternal infection, advanced non-invasive in vivo imaging studies reveal dramatic effects on placental oxygen reserve accompanied by significantly decreased oxygen permeability of the placental villi...
January 17, 2018: Nature Communications
Jonathon Holzmann, Shane M Tibby, Eric Rosenthal, Shakeel Qureshi, Gareth Morgan, Thomas Krasemann
Pulmonary valve stenosis is common in patients with Noonan's syndrome. The response to balloon valvoplasty varies. We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention. METHODS: This is a retrospective study conducted from 1995 to 2014. RESULTS: Of 14 patients identified, seven had re-intervention 28±54 months (range 3-149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention...
January 10, 2018: Cardiology in the Young
Ashley D Zapf, Christine Morgan, Daniel C Herman
No abstract text is available yet for this article.
January 2018: Current Sports Medicine Reports
Morgane Van Wettere, Onorina Bruno, Pierre-Emmanuel Rautou, Valérie Vilgrain, Maxime Ronot
Budd-Chiari syndrome (BCS) is defined by clinical and laboratory signs associated with partial or complete impairment of hepatic venous drainage in the absence of right heart failure or constrictive pericarditis. Primary BCS is the most frequent type and is a complication of hypercoagulable states, in particular myeloproliferative neoplasms. Secondary BCS involves tumor invasion or extrinsic compression. Most patients present with chronic BCS including a non-cirrhotic, dysmorphic, chronic liver disease with various degrees of fibrosis deposition...
December 28, 2017: Abdominal Radiology
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Angela T Morgan, Leenke van Haaften, Karen van Hulst, Carol Edley, Cristina Mei, Tiong Yang Tan, David Amor, Simon E Fisher, David A Koolen
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0-27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties...
January 2018: European Journal of Human Genetics: EJHG
Courtney D DiNardo, Caitlin R Rausch, Christopher Benton, Tapan Kadia, Nitin Jain, Naveen Pemmaraju, Naval Daver, Wendy Covert, Kayleigh R Marx, Morgan Mace, Elias Jabbour, Jorge Cortes, Guillermo Garcia-Manero, Farhad Ravandi, Kapil N Bhalla, Hagop Kantarjian, Marina Konopleva
INTRODUCTION: Venetoclax (VEN), a selective BCL2 inhibitor, has single-agent activity in relapsed and refractory (R/R) acute myeloid leukemia (AML), and efficacy in lower intensity combinations for treatment-naïve elderly AML patients. VEN treatment combinations in R/R AML have not been previously reported. METHODS: All R/R myeloid patients (including AML, myelodysplastic syndrome (MDS), and blastic plasmacytoid dendritic cell neoplasm (BPDCN)) treated with VEN combinations in the salvage setting were reviewed...
March 2018: American Journal of Hematology
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
January 2018: Molecular Genetics & Genomic Medicine
Caroline S Hirst, Lincon A Stamp, Annette J Bergner, Marlene M Hao, Mai X Tran, Jan M Morgan, Matthias Dutschmann, Andrew M Allen, George Paxinos, Teri M Furlong, Sonja J McKeown, Heather M Young
Goldberg-Shprintzen syndrome is a poorly understood condition characterized by learning difficulties, facial dysmorphism, microcephaly, and Hirschsprung disease. GOSHS is due to recessive mutations in KIAA1279, which encodes kinesin family member 1 binding protein (KIF1BP, also known as KBP). We examined the effects of inactivation of Kif1bp in mice. Mice lacking Kif1bp died shortly after birth, and exhibited smaller brains, olfactory bulbs and anterior commissures, and defects in the vagal and sympathetic innervation of the gut...
November 30, 2017: Scientific Reports
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