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https://www.readbyqxmd.com/read/28198914/action-of-vitamin-e-on-experimental-severe-acute-liver-failure
#1
Fabiano Moraes Miguel, Elizângela Gonçalves Schemitt, Josieli Raskopf Colares, Renata Minuzzo Hartmann, Maria Isabel Morgan-Martins, Norma Possa Marroni
BACKGROUND: Severe Acute Liver Failure (ALF) is a life-threatening clinical syndrome characterized by hepatocyte necrosis, loss of hepatic architecture, and impairment of liver functions. One of the main causes of ALF is hepatotoxicity from chemical agents, which damage hepatocytes and result in increase of reactive oxygen species. The vitamin E isoform is the one with the strongest biological antioxidant activity. OBJECTIVE: To evaluate the antioxidant effect of vitamin E in this ALF model...
February 13, 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28198702/epigenetic-clock-analysis-of-diet-exercise-education-and-lifestyle-factors
#2
Austin Quach, Morgan E Levine, Toshiko Tanaka, Ake T Lu, Brian H Chen, Luigi Ferrucci, Beate Ritz, Stefania Bandinelli, Marian L Neuhouser, Jeannette M Beasley, Linda Snetselaar, Robert B Wallace, Philip S Tsao, Devin Absher, Themistocles L Assimes, James D Stewart, Yun Li, Lifang Hou, Andrea A Baccarelli, Eric A Whitsel, Steve Horvath
Behavioral and lifestyle factors have been shown to relate to a number of health-related outcomes, yet there is a need for studies that examine their relationship to molecular aging rates. Toward this end, we use recent epigenetic biomarkers of age that have previously been shown to predict all-cause mortality, chronic conditions, and age-related functional decline. We analyze cross-sectional data from 4,173 postmenopausal female participants from the Women's Health Initiative, as well as 402 male and female participants from the Italian cohort study, Invecchiare nel Chianti...
February 14, 2017: Aging
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#3
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28152971/understanding-patterns-of-genetic-risk-evaluation-gre-referral-and-uptake-in-patients-pts-with-epithelial-ovarian-cancer-eoc
#4
Robert Morgan, Lucille A Leong
: 254 Background: EOC is the most common cause of gynecologic cancer death and fifth leading cause in women. ~20% cases are due to identifiable genetic risk (BRCA1/2 in 15%, Lynch syndrome 2%, other germline mutations 6%). Since 2013, National Comprehensive Cancer Network (NCCN) guidelines recommend all women with EOC be referred for GRE, to optimize risk stratification, genetic testing decisions, clinical management, with goal to reduce mortality. Yet physicians under-refer and pts under-utilize genetic services...
March 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28148630/dysarthria-and-broader-motor-speech-deficits-in-dravet-syndrome
#5
Samantha J Turner, Amy Brown, Marta Arpone, Vicki Anderson, Angela T Morgan, Ingrid E Scheffer
OBJECTIVE: To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A. METHODS: Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery. RESULTS: Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility...
February 1, 2017: Neurology
https://www.readbyqxmd.com/read/28131186/neuroimaging-features-in-posterior-reversible-encephalopathy-syndrome-a-pictorial-review
#6
REVIEW
Morgan Ollivier, Anne Bertrand, Frédéric Clarençon, Sophie Gerber, Sandrine Deltour, Fanny Domont, Stéphanie Trunet, Didier Dormont, Delphine Leclercq
Posterior reversible encephalopathy syndrome (PRES) is a radioclinical entity associating nonspecific neurological symptoms (headache, seizures, impairment of alertness, visual disturbances…) occurring in evocative clinical condition (hypertension, eclampsia, immunosuppressor agents, systemic lupus erythematosus…). In the acute stage, the typical imaging finding is a vasogenic edema predominant in the subcortical parietal-occipital white matter. The purpose of this pictorial review is to illustrate the different neuroimaging features of PRES and present key radiological elements to assert diagnosis...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28125446/inpatient-gamma-hydroxybutyrate-detoxification-a-case-report-describing-day-to-day-therapeutic-management
#7
Louis von Theobald, Morgane Rousselet, Jennyfer Cholet, Hélène Debar, David Boels, Caroline Victorri-Vigneau, Marie Grall-Bronnec
BACKGROUND: Gamma-hydroxybutyrate (GHB) is a synthetic drug increasingly used by consumers of psychoactive substances. The sought after psychoactive effects of GHB have resulted in an increase in recreational use in Europe. GHB is considered to have a high dependence potential, and abrupt discontinuation after long-term use can result in a severe withdrawal syndrome. Despite a large number of publications related to GHB withdrawal and detoxification, to date, no evidence-based protocol or consensual international therapeutic guidelines are available (over and above the administration of benzodiazepines)...
January 25, 2017: Journal of Addiction Medicine
https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#8
William J Griffiths, Jonas Abdel-Khalik, Eylan Yutuc, Alwena H Morgan, Ian Gilmore, Thomas Hearn, Yuqin Wang
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample. These molecules include 1,25-dihydroxyvitamin D3, steroid hormones and bile acids and intermediates in their respective biosynthetic pathways. In this short article we will concentrate our attention on intermediates in bile acid biosynthesis pathways, in particular oxysterols and cholestenoic acids. These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Lemli-Opitz syndrome...
January 10, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28068180/clonal-hematopoiesis-associated-with-adverse-outcomes-after-autologous-stem-cell-transplantation-for-lymphoma
#9
Christopher J Gibson, R Coleman Lindsley, Vatche Tchekmedyian, Brenton G Mar, Jiantao Shi, Siddhartha Jaiswal, Alysia Bosworth, Liton Francisco, Jianbo He, Anita Bansal, Elizabeth A Morgan, Ann S Lacasce, Arnold S Freedman, David C Fisher, Eric Jacobsen, Philippe Armand, Edwin P Alyea, John Koreth, Vincent Ho, Robert J Soiffer, Joseph H Antin, Jerome Ritz, Sarah Nikiforow, Stephen J Forman, Franziska Michor, Donna Neuberg, Ravi Bhatia, Smita Bhatia, Benjamin L Ebert
Purpose Clonal hematopoiesis of indeterminate potential (CHIP) is an age-related condition characterized by somatic mutations in the blood of otherwise healthy adults. We hypothesized that in patients undergoing autologous stem-cell transplantation (ASCT) for lymphoma, CHIP at the time of ASCT would be associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia, collectively termed therapy-related myeloid neoplasm (TMN), and other adverse outcomes. Methods We performed whole-exome sequencing on pre- and post-ASCT samples from 12 patients who developed TMN after autologous transplantation for Hodgkin lymphoma or non-Hodgkin lymphoma and targeted sequencing on cryopreserved aliquots of autologous stem-cell products from 401 patients who underwent ASCT for non-Hodgkin lymphoma between 2003 and 2010...
January 9, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28043728/acute-compartment-syndrome-caused-by-uncontrolled-hypothyroidism
#10
Anar Modi, Hari Amin, Matthew Salzman, Farah Morgan
Acute compartment syndrome is increased tissue pressure exceeding perfusion pressure in a closed compartment resulting in nerve and muscle ischemia. Common precipitating causes are crush injuries, burns, substance abuse, osseous or vascular limb trauma. This is a case of 42year old female with history of hypothyroidism who presented to emergency room with acute onset of severe pain and swelling in right lower extremity. Physical examination was concerning for acute compartment syndrome of right leg which was confirmed by demonstration of elevated compartmental pressures...
December 23, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27998845/initial-experience-with-live-three-dimensional-image-overlay-for-ductal-stenting-in-hypoplastic-left-heart-syndrome
#11
Sebastian Goreczny, Gareth J Morgan, Pawel Dryzek, Jadwiga A Moll, Tomasz Moszura
AIMS: Precise visualisation of ductal morphology and adjacent vessels is crucial for accurate stent choice and placement during hybrid palliation of hypoplastic left heart syndrome (HLHS). We aimed to describe our initial experience with live three-dimensional reconstruction overlay derived from rotational angiography (RA) for ductal stenting in HLHS. METHODS AND RESULTS: We carried out a retrospective review of ductal stenting in 18 newborns with HLHS, including six patients with 3D reconstruction overlay used to guide the intervention...
December 20, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27983491/streptococcal-toxic-shock-syndrome-caused-by-group-g-streptococcus-united-kingdom
#12
Melissa Baxter, Marina Morgan
We describe successful management of 3 patients with streptococcal toxic shock syndrome (STSS) attributable to group G Streptococcus infection. This small series supports recognition of group G Streptococcus in the etiology of STSS. We propose intravenous immunoglobulin be used in treatment as it is for STSS caused by group A Streptococcus.
January 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27965259/standardisation-of-labial-salivary-gland-histopathology-in-clinical-trials-in-primary-sj%C3%A3-gren-s-syndrome
#13
Benjamin A Fisher, Roland Jonsson, Troy Daniels, Michele Bombardieri, Rachel M Brown, Peter Morgan, Stefano Bombardieri, Wan-Fai Ng, Athanasios G Tzioufas, Claudio Vitali, Pepe Shirlaw, Erlin Haacke, Sebastian Costa, Hendrika Bootsma, Valerie Devauchelle-Pensec, Timothy R Radstake, Xavier Mariette, Andrea Richards, Rebecca Stack, Simon J Bowman, Francesca Barone
Labial salivary gland (LSG) biopsy is used in the classification of primary Sjögren's syndrome (PSS) and in patient stratification in clinical trials. It may also function as a biomarker. The acquisition of tissue and histological interpretation is variable and needs to be standardised for use in clinical trials. A modified European League Against Rheumatism consensus guideline development strategy was used. The steering committee of the ad hoc working group identified key outstanding points of variability in LSG acquisition and analysis...
December 13, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27804958/dominant-variants-in-the-splicing-factor-puf60-cause-a-recognizable-syndrome-with-intellectual-disability-heart-defects-and-short-stature
#14
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27803223/international-consensus-on-the-definition-and-classification-of-fibrosis-of-the-knee-joint
#15
N S Kalson, L A Borthwick, D A Mann, D J Deehan, P Lewis, C Mann, M A Mont, R Morgan-Jones, S Oussedik, F M K Williams, A Toms, J N Argenson, J Bellemans, A Bhave, O Furnes, H Gollwitzer, F S Haddad, S Hofmann, V Krenn
AIMS: The aim of this consensus was to develop a definition of post-operative fibrosis of the knee. PATIENTS AND METHODS: An international panel of experts took part in a formal consensus process composed of a discussion phase and three Delphi rounds. RESULTS: Post-operative fibrosis of the knee was defined as a limited range of movement (ROM) in flexion and/or extension, that is not attributable to an osseous or prosthetic block to movement from malaligned, malpositioned or incorrectly sized components, metal hardware, ligament reconstruction, infection (septic arthritis), pain, chronic regional pain syndrome (CRPS) or other specific causes, but due to soft-tissue fibrosis that was not present pre-operatively...
November 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/27797893/diet-soda-consumption-and-risk-of-incident-end-stage-renal-disease
#16
Casey M Rebholz, Morgan E Grams, Lyn M Steffen, Deidra C Crews, Cheryl A M Anderson, Lydia A Bazzano, Josef Coresh, Lawrence J Appel
BACKGROUND AND OBJECTIVES: Diet soda consumption is common in the United States and is associated with impaired glucose metabolism, diabetes, and metabolic syndrome. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We prospectively analyzed diet soda consumption, assessed by food frequency questionnaire at baseline (1987-1989) and a follow-up examination (1993-1995), and incident ESRD through December 31, 2012 in the Atherosclerosis Risk in Communities study (n=15,368)...
January 6, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27788054/diphtheritic-stomatitis-in-yellow-eyed-penguins-megadyptes-antipodes-in-new-zealand
#17
Maurice R Alley, Rod B Suepaul, Bruce McKinlay, Melanie J Young, Jianning Wang, Kerri J Morgan, Stuart A Hunter, Brett D Gartrell
Diphtheritic stomatitis is a seasonal disease that has been recognized as a syndrome in Yellow-eyed Penguin ( Megadyptes antipodes ) chicks in New Zealand for >10 yr. It was present in about 50% of 234 chicks examined since 2002 and is characterized by a thick serocellular exudate in the oral cavity of 1-4-wk-old chicks. The syndrome includes inanition, weight loss, and death in many affected birds. Microscopically, the lesions varied in severity. Most affected chicks had severe, locally extensive, ulcerative stomatitis with large amounts of exudate containing numerous bacteria; a smaller number had mild focal lesions with smaller amounts of exudate and bacteria...
January 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/27785421/lynch-syndrome-and-exposure-to-aristolochic-acid-in-upper-tract-urothelial-carcinoma-its-clinical-impact
#18
REVIEW
Pierre Colin, Thomas Seisen, Romain Mathieu, Sharohkh F Shariat, Morgan Rouprêt
The purpose of the current review was to describe the clinical risk for Lynch syndrome (LS) after exposure to aristolochic acid (AA) in cases of upper urinary-tract urothelial carcinoma (UTUC). A systematic review of the scientific literature was performed using the Medline database (National Library of Medicine, PubMed) using the following keywords: epidemiology, risk factor, AA, Balkan nephropathy (BNe), LS, hereditary cancer, hereditary non-polyposis colorectal cancer (HNPCC), mismatch repair genes, urothelial carcinomas, upper urinary tract, renal pelvis, ureter, Amsterdam criteria, genetic counselling, mismatch repair genes, genetic instability, microsatellite, and Bethesda guidelines...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27764811/altered-recql5-expression-in-urothelial-bladder-carcinoma-increases-cellular-proliferation-and-makes-recql5-helicase-activity-a-novel-target-for-chemotherapy
#19
Karl Patterson, Lovleen Arya, Sarah Bottomley, Susan Morgan, Angela Cox, James Catto, Helen E Bryant
RECQ helicases are a family of enzymes with both over lapping and unique functions. Functional autosomal recessive loss of three members of the family BLM, WRN and RECQL4, results in hereditary human syndromes characterized by cancer predisposition and premature aging, but despite the finding that RECQL5 deficient mice are cancer prone, no such link has been made to human RECQL5. Here we demonstrate that human urothelial carcinoma of the bladder (UCC) has increased expression of RECQL5 compared to normal bladder tissue and that increasing RECQL5 expression can drive proliferation of normal bladder cells and is associated with poor prognosis...
October 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27745762/-lower-urinary-tract-symptoms-related-to-benign-prostatic-hyperplasia-and-erectile-dysfunction-a-systematic-review
#20
Benoît Peyronnet, Thomas Seisen, Véronique Phé, Vincent Misrai, Alexandre de la Taille, Morgan Rouprêt
AIM: To provide a systematic review of epidemiological data regarding the association between erectile dysfunction (ED) and lower urinary tract symptoms (LUTS) in men. SEARCH STRATEGY: A research has been conducted on the Medline database using the keywords: ("erectile dysfunction" or "sexual dysfunction") and ("benign prostatic hyperplasia" or "lower urinary tract symptoms"). The eligibility of studies was defined using the PICOS method in accordance with the PRISMA statement...
October 10, 2016: La Presse Médicale
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