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https://www.readbyqxmd.com/read/28087213/cholesterolomics-an-update
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27707659/precision-molecular-diagnosis-defines-specific-therapy-in-combined-immunodeficiency-with-megaloblastic-anemia-secondary-to-mthfd1-deficiency
#14
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, Mary Morgan, Sanjay V Patel, E Graham Davies, Sarah Ennis, Saul N Faust, Anthony P Williams
BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were exome sequencing and analysis of variants in genes involved in the folate metabolic pathway in a family with 2 affected siblings...
October 1, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27684375/alternative-isoform-analysis-of-ttc8-expression-in-the-rat-pineal-gland-using-a-multi-platform-sequencing-approach-reveals-neural-regulation
#15
Stephen W Hartley, James C Mullikin, David C Klein, Morgan Park, Steven L Coon
Alternative isoform regulation (AIR) vastly increases transcriptome diversity and plays an important role in numerous biological processes and pathologies. However, the detection and analysis of isoform-level differential regulation is difficult, particularly in the face of complex and incompletely-annotated transcriptomes. Here we have used Illumina short-read/high-throughput RNA-Seq to identify 55 genes that exhibit neurally-regulated AIR in the pineal gland, and then used two other complementary experimental platforms to further study and characterize the Ttc8 gene, which is involved in Bardet-Biedl syndrome and non-syndromic retinitis pigmentosa...
2016: PloS One
https://www.readbyqxmd.com/read/27684374/vascular-dysfunction-in-horses-with-endocrinopathic-laminitis
#16
Ruth A Morgan, John A Keen, Brian R Walker, Patrick W F Hadoke
Endocrinopathic laminitis (EL) is a vascular condition of the equine hoof resulting in severe lameness with both welfare and economic implications. EL occurs in association with equine metabolic syndrome and equine Cushing's disease. Vascular dysfunction, most commonly due to endothelial dysfunction, is associated with cardiovascular risk in people with metabolic syndrome and Cushing's syndrome. We tested the hypothesis that horses with EL have vascular, specifically endothelial, dysfunction. Healthy horses (n = 6) and horses with EL (n = 6) destined for euthanasia were recruited...
2016: PloS One
https://www.readbyqxmd.com/read/27676760/identification-of-a-voluntary-overcontrol-of-postural-sway-from-static-stabilometric-assessment
#17
David Gasq, Morgane Lainard, Laure Kaluza, Philippe Dupui, David Amarantini
OBJECTIVE: When subjects present medically unexplained postural instability, a voluntary overcontrol of postural sway is often suspected. Aphysiologic postural imbalance may be detected in dynamic conditions on a servo-controlled platform (Equitest), but it remains difficult to objectify from static stabilometric evaluation. Our objective was to identify the key stabilometric parameters that allow to discriminate subjects with voluntary postural instability, control subjects and neurological patients with organic postural instability...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27600092/actionable-genes-core-databases-and-locus-specific-databases
#18
Amélie Pinard, Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Jean-Pierre Desvignes, David Salgado, Aurélie Fabre, Pauline Arnaud, Laura Barré, Martin Krahn, Philippe Grandval, Sylviane Olschwang, Stéphane Zaffran, Catherine Boileau, Christophe Béroud, Gwenaëlle Collod-Béroud
Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wherefores of these questioning, it is necessary to understand how they are selected during the filtering process and how their proportion can be estimated. It is likely that SVs are underestimated and that our capacity to label all true SVs can be improved. In this context, Locus-specific databases (LSDBs) can be key by providing a wealth of information and enabling classifying variants...
December 2016: Human Mutation
https://www.readbyqxmd.com/read/27595685/rationale-and-design-of-the-improving-care-for-cardiovascular-disease-in-china-ccc-project-a-national-effort-to-prompt-quality-enhancement-for-acute-coronary-syndrome
#19
Yongchen Hao, Jing Liu, Jun Liu, Sidney C Smith, Yong Huo, Gregg C Fonarow, Changsheng Ma, Junbo Ge, Kathryn A Taubert, Louise Morgan, Yang Guo, Qian Zhang, Wei Wang, Dong Zhao
BACKGROUND: A sizeable gap exists between guideline recommendations for treatment of acute coronary syndrome (ACS) and application of these recommendations in clinical practice. The CCC-ACS project is a novel national quality enhancement registry designed to help medical care providers bridge this gap, thereby improving clinical outcomes for ACS patients in China. METHODS AND RESULTS: The CCC-ACS project uses data collection, analysis, feedback, rapid-cycle improvement, and performance recognition to extend the use of evidence-based guidelines throughout the health care system and improve cardiovascular health...
September 2016: American Heart Journal
https://www.readbyqxmd.com/read/27588307/redefined-clinical-features-and-diagnostic-criteria-in-autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy
#20
Elise M N Ferre, Stacey R Rose, Sergio D Rosenzweig, Peter D Burbelo, Kimberly R Romito, Julie E Niemela, Lindsey B Rosen, Timothy J Break, Wenjuan Gu, Sally Hunsberger, Sarah K Browne, Amy P Hsu, Shakuntala Rampertaap, Muthulekha Swamydas, Amanda L Collar, Heidi H Kong, Chyi-Chia Richard Lee, David Chascsa, Thomas Simcox, Angela Pham, Anamaria Bondici, Mukil Natarajan, Joseph Monsale, David E Kleiner, Martha Quezado, Ilias Alevizos, Niki M Moutsopoulos, Lynne Yockey, Cathleen Frein, Ariane Soldatos, Katherine R Calvo, Jennifer Adjemian, Morgan N Similuk, David M Lang, Kelly D Stone, Gulbu Uzel, Jeffrey B Kopp, Rachel J Bishop, Steven M Holland, Kenneth N Olivier, Thomas A Fleisher, Theo Heller, Karen K Winer, Michail S Lionakis
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE mutations. It classically presents with chronic mucocutaneous candidiasis and autoimmunity that primarily targets endocrine tissues; hypoparathyroidism and adrenal insufficiency are most common. Developing any two of these classic triad manifestations establishes the diagnosis. Although widely recognized in Europe, where nonendocrine autoimmune manifestations are uncommon, APECED is less defined in patients from the Western Hemisphere...
August 18, 2016: JCI Insight
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