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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
#1
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...
November 2, 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
#2
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
#3
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)...
October 26, 2016: 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
#4
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...
October 27, 2016: 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/27565549/family-history-in-periodic-fever-aphthous-stomatitis-pharyngitis-adenitis-pfapa-syndrome
#15
Kalpana Manthiram, Emily Nesbitt, Thomas Morgan, Kathryn M Edwards
OBJECTIVE: The goal of this study was to describe family history and inheritance patterns in patients with periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome. METHODS: We performed a case-control study to compare the family histories of patients with PFAPA recruited from Vanderbilt University Medical Center and matched healthy control subjects from a pediatric primary care practice in Nashville, Tennessee, by using a structured questionnaire...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27533503/lynch-syndrome-in-upper-tract-urothelial-carcinoma-significance-screening-and-surveillance
#16
Benjamin Pradere, Yair Lotan, Morgan Roupret
PURPOSE OF REVIEW: Lynch syndrome is a genetic syndrome that integrates a large spectrum of cancers caused by germline mutations in mismatch repair genes. Its incidence is underestimated due to a lack of systematic screening in the population. Because upper tract urothelial carcinoma is the third-most common cancer associated with the syndrome, urologists should be aware of the diagnostic pathway. RECENT FINDINGS: Lynch syndrome can be positively diagnosed after the three following distinct steps: meeting the clinical criteria, tissue and genetic testing, and familial genetic counseling...
January 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/27523608/the-deubiquitinase-otulin-is-an-essential-negative-regulator-of-inflammation-and-autoimmunity
#17
Rune Busk Damgaard, Jennifer A Walker, Paola Marco-Casanova, Neil V Morgan, Hannah L Titheradge, Paul R Elliott, Duncan McHale, Eamonn R Maher, Andrew N J McKenzie, David Komander
Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune homeostasis, and responses to infection. The importance of negative regulators of M1-linked chains in vivo remains poorly understood. Here, we show that the M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in humans and mice. A homozygous hypomorphic mutation in human OTULIN causes a potentially fatal autoinflammatory condition termed OTULIN-related autoinflammatory syndrome (ORAS)...
August 25, 2016: Cell
https://www.readbyqxmd.com/read/27443814/associations-between-maternal-periconceptional-exposure-to-secondhand-tobacco-smoke-and-major-birth-defects
#18
Adrienne T Hoyt, Mark A Canfield, Paul A Romitti, Lorenzo D Botto, Marlene T Anderka, Sergey V Krikov, Morgan K Tarpey, Marcia L Feldkamp
BACKGROUND: While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. OBJECTIVE: We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects...
July 18, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27440845/perforation-of-the-bowel-due-to-cytomegalovirus-infection-in-a-man-with-aids-surgery-is-not-always-necessary
#19
Katie Tharshana Yoganathan, Andrew Roger Morgan, Kathir G Yoganathan
Cytomegalovirus (CMV) infection is the most common viral opportunistic infection in immunocompromised patients and is a rare cause of bowel perforation. It invariably requires surgical intervention and is often fatal. We report a 50-year-old Caucasian man with AIDS, presented 3 weeks after developing abdominal pain and distension. He was treated for CMV retinitis in the past. His adherence to antiretroviral therapy was poor. Examination revealed a recurrence of active CMV retinitis. His abdomen was tender and distended...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27426892/clozapine-users-in-australia-their-characteristics-and-experiences-of-care-based-on-data-from-the-2010-national-survey-of-high-impact-psychosis
#20
D J Siskind, M Harris, A Phillipou, V A Morgan, A Waterreus, C Galletly, V J Carr, C Harvey, D Castle
AIMS: Clozapine is the most effective medication for treatment refractory schizophrenia. However, descriptions of the mental health and comorbidity profile and care experiences of people on clozapine in routine clinical settings are scarce. Using data from the 2010 Australian Survey of High Impact Psychosis, we aimed to examine the proportion of people using clozapine, and to compare clozapine users with other antipsychotic users on demographic, mental health, adverse drug reaction, polypharmacy and treatment satisfaction variables...
July 18, 2016: Epidemiology and Psychiatric Sciences
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