keyword
MENU ▼
Read by QxMD icon Read
search

bart syndrome

keyword
https://www.readbyqxmd.com/read/28642233/sembragiline-a-novel-selective-monoamine-oxidase-type-b-inhibitor-for-the-treatment-of-alzheimer-s-disease
#1
Edilio Borroni, Bernd Bohrmann, Fiona Grueninger, Eric Prinssen, Stephane Nave, Hansruedi Loetscher, Shankar J Chinta, Subramanian Rajagopalan, Anand Rane, Almas Siddiqui, Bart Ellenbroek, Juerg Messer, Axel Pahler, Julie K Anderson, Rene Wyler, Andrea M Cesura
Monoamine oxidase B (MAO-B) has been implicated in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. Increased MAO-B expression in astroglia has been observed adjacent to amyloid plaques in AD patient brains. This phenomenon is hypothesised to lead to increased production of hydrogen peroxide and reactive oxygen species (ROS), thereby contributing to AD pathology. Therefore, reduction of ROS-induced oxidative stress via inhibition of MAO-B activity may delay the progression of the disease...
June 22, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#2
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28629992/do-patients-with-carpal-tunnel-syndrome-benefit-from-low-level-laser-therapy-a-systematic-review-of-randomized-controlled-trials
#3
REVIEW
Thierry P C Franke, Bart W Koes, Sven J G Geelen, Bionka M A Huisstede
OBJECTIVE: To systematically review the literature on the effectiveness of low-level laser therapy for patients with carpal tunnel syndrome. DATA SOURCES: The Cochrane Library, PubMed, EMBASE, CINAHL, and PEDro were searched for relevant systematic reviews and randomized controlled trials (RCTs) up to April 8 2016. STUDY SELECTION: Two reviewers independently applied the inclusion criteria to select potential studies. DATA EXTRACTION: Two reviewers independently extracted the data and assessed the methodological quality...
June 16, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#4
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28616497/mers-coronavirus-from-discovery-to-intervention
#5
REVIEW
W Widagdo, Nisreen M A Okba, V Stalin Raj, Bart L Haagmans
Middle East respiratory syndrome coronavirus (MERS-CoV) still causes outbreaks despite public awareness and implementation of health care measures, such as rapid viral diagnosis and patient quarantine. Here we describe the current epidemiological picture of MERS-CoV, focusing on humans and animals affected by this virus and propose specific intervention strategies that would be appropriate to control MERS-CoV. One-third of MERS-CoV patients develop severe lower respiratory tract infection and succumb to a fatal outcome; these patients would require effective therapeutic antiviral therapy...
June 2017: One Health
https://www.readbyqxmd.com/read/28612032/genetics-and-molecular-biology-of-epstein-barr-virus-encoded-bart-microrna-a-paradigm-for-viral-modulation-of-host-immune-response-genes-and-genome-stability
#6
REVIEW
David H Dreyfus
Epstein-Barr virus, a ubiquitous human herpesvirus, is associated through epidemiologic evidence with common autoimmune syndromes and cancers. However, specific genetic mechanisms of pathogenesis have been difficult to identify. In this review, the author summarizes evidence that recently discovered noncoding RNAs termed microRNA encoded by Epstein-Barr virus BARF (BamHI A right frame) termed BART (BamHI A right transcripts) are modulators of human immune response genes and genome stability in infected and bystander cells...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28604731/genome-wide-association-analysis-of-insomnia-complaints-identifies-risk-genes-and-genetic-overlap-with-psychiatric-and-metabolic-traits
#7
Anke R Hammerschlag, Sven Stringer, Christiaan A de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F Blanken, Kim Dekker, Bart H W Te Lindert, Rick Wassing, Ingileif Jonsdottir, Gudmar Thorleifsson, Hreinn Stefansson, Thorarinn Gislason, Klaus Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kari Stefansson, Konrad Oexle, Eus J W Van Someren, Danielle Posthuma
Persistent insomnia is among the most frequent complaints in general practice. To identify genetic factors for insomnia complaints, we performed a genome-wide association study (GWAS) and a genome-wide gene-based association study (GWGAS) in 113,006 individuals. We identify three loci and seven genes associated with insomnia complaints, with the associations for one locus and five genes supported by joint analysis with an independent sample (n = 7,565). Our top association (MEIS1, P < 5 × 10(-8)) has previously been implicated in restless legs syndrome (RLS)...
June 12, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28600031/hematopoietic-cell-transplantation-in-myelodysplastic-syndromes-after-treatment-with-hypomethylating-agents
#8
Moreno Festuccia, Kelsey Baker, Theodore A Gooley, Brenda M Sandmaier, H Joachim Deeg, Bart L Scott
The prognosis of patients with myelodysplastic syndromes (MDS) following failure of hypomethylating agent (HMA) therapy is poor. Allogeneic hematopoietic cell transplantation (HCT) can be effective in curing patients who have failed therapy with HMA. However, published results have not addressed the outcomes with HCT in this setting. We identified 125 MDS patients who had been treated with HMA and underwent subsequent HCT. Among these, 68 were considered HMA failures, and 57 responders. Failure was defined as progression to higher grade MDS or acute myeloid leukemia (AML), lack of hematological improvement after at least 4 HMA cycles, or loss of response after initial improvement...
June 6, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28577858/the-effectiveness-of-surgical-and-post-surgical-interventions-for-carpal-tunnel-syndrome-a-systematic-review
#9
REVIEW
Bionka Ma Huisstede, Janneke van den Brink, Manon S Randsdorp, Sven Jg Geelen, Bart W Koes
OBJECTIVE: To present an evidence-based overview of the effectiveness of surgical and postsurgical interventions for carpal tunnel syndrome (CTS). DATA SOURCES: The Cochrane Library, PubMed, EMBASE, CINAHL and PEDro were searched for relevant systematic reviews and randomized controlled trials (RCTs) up to April 8th 2016. DATA SELECTION AND EXTRACTION: Two reviewers independently selected the studies, extracted the data, and assessed the methodological quality...
May 31, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28572025/cobalt-toxicity-in-humans-a-review-of-the-potential-sources-and-systemic-health-effects
#10
REVIEW
Laura Leyssens, Bart Vinck, Catherine Van Der Straeten, Floris Wuyts, Leen Maes
Cobalt (Co) and its compounds are widely distributed in nature and are part of numerous anthropogenic activities. Although cobalt has a biologically necessary role as metal constituent of vitamin B12, excessive exposure has been shown to induce various adverse health effects. This review provides an extended overview of the possible Co sources and related intake routes, the detection and quantification methods for Co intake and the interpretation thereof, and the reported health effects. The Co sources were allocated to four exposure settings: occupational, environmental, dietary and medical exposure...
May 29, 2017: Toxicology
https://www.readbyqxmd.com/read/28546579/corrigendum-smchd1-mutations-associated-with-a-rare-muscular-dystrophy-can-also-cause-isolated-arhinia-and-bosma-arhinia-microphthalmia-syndrome
#11
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
No abstract text is available yet for this article.
May 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28541601/the-approach-to-coronary-bifurcation-treatment-and-its-outcomes-in-poland-the-single-center-experience
#12
Adam Kern, Robert J Gil, Krystian Bojko, Bartłomiej Rzeszowski, Rakesh Jalali, Jerzy Górny, Jacek Bil
BACKGROUND: Coronary bifurcation lesions pose therapeutic problems during percutaneous coronary interventions. The aim of this study was to analyze the strategy of coronary bifurcation treatment and associated angiographic as well as clinical outcomes in a large hospital in Northern Poland. METHODS: Between January 2012 and January 2014 patients with stable coronary artery disease or non-ST-elevation acute coronary syndrome (NSTE-ACS) were treated with regular drug-eluting stents (rDES) or dedicated bifurcation stents (BiOSS Expert® or BiOSS LIM®)...
May 25, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#13
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28507920/passenger-lymphocyte-syndrome-pls-a-single-center-retrospective-analysis-of-minor-abo-incompatible-liver-transplants
#14
Sévérine de Bruijn, Ester Philipse, Marie Madeleine Couttenye, Bart Bracke, Dirk Ysebaert, Peter Michielsen, Sven Francque, Thomas Vanwolleghem, Anke Verlinden
Background and Aims: Due to the shortage of donor livers, minor ABO-incompatible liver transplantations are commonly performed. Together with the allograft, immunocompetent B-lymphocytes, called passenger lymphocytes, are transplanted. In case of minor ABO-incompatibility, these passenger lymphocytes produce antibodies directed towards the recipient's red blood cells, which causes immune-mediated hemolysis, also known as the passenger lymphocyte syndrome (PLS). Although this is a self-limiting disorder, serious complications can occur, including graft failure...
March 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28505236/could-albumin-be-a-biomarker-to-monitor-the-effect-of-intravenous-immunoglobulin-on-guillain-barr%C3%A3-syndrome-reply
#15
Willem-Jan R Fokkink, Bart C Jacobs
No abstract text is available yet for this article.
May 15, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28502071/update-from-the-abdominal-compartment-society-wsacs-on-intra-abdominal-hypertension-and-abdominal-compartment-syndrome-past-present-and-future-beyond-banff-2017
#16
Andrew W Kirkpatrick, Michael Sugrue, Jessica L McKee, Bruno M Pereira, Derek J Roberts, Jan J De Waele, Ari Leppaniemi, Janeth C Ejike, Annika Reintam Blaser, Scott D'Amours, Bart De Keulenaer, Manu L N G Malbrain
No abstract text is available yet for this article.
May 14, 2017: Anaesthesiology Intensive Therapy
https://www.readbyqxmd.com/read/28501428/management-of-ovarian-stimulation-for-ivf-narrative-review-of-evidence-provided-for-world-health-organization-guidance
#17
REVIEW
Cindy Farquhar, Jane Marjoribanks, Julie Brown, Bart C J M Fauser, Anne Lethaby, Selma Mourad, Robert Rebar, Marian Showell, Sheryl van der Poel
In this paper, a review of evidence provided to the World Health Organization (WHO) guideline development, who prepare global guidance on the management of ovarian stimulation for women undergoing IVF, is presented. The purpose of ovarian stimulation is to facilitate retrieval of multiple oocytes during a single IVF cycle. Availability of multiple oocytes compensates for inefficiencies in subsequent stages of the cycle, which include oocyte maturation, IVF, embryo culture, embryo transfer, and implantation...
April 26, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#18
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28457019/dynamics-of-von-willebrand-factor-reactivity-in-sickle-cell-disease-during-vaso-occlusive-crisis-and-steady-state
#19
J W R Sins, M Schimmel, B M Luken, E Nur, S S Zeerleder, C F J van Tuijn, D P M Brandjes, W F Kopatz, R T Urbanus, J C M Meijers, B J Biemond, K Fijnvandraat
Essentials The role of von Willebrand Factor (VWF) in the pathophysiology of sickle cell disease is unclear. We assessed markers of VWF during admission for vaso-occlusive crisis (VOC) and steady state. VWF reactivity was higher during VOC and was associated with inflammation and neutrophil activation. Hyper-adhesive VWF may promote VOC in sickle cell disease. SUMMARY: Background Endothelial activation plays a central role in the pathophysiology of vaso-occlusion in sickle cell disease (SCD), facilitating adhesive interactions with circulating blood cells...
April 29, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28447405/high-mortality-from-guillain-barr%C3%A3-syndrome-in-bangladesh
#20
Tanveen Ishaque, Mohammad B Islam, Gulshan Ara, Hubert P Endtz, Quazi D Mohammad, Bart C Jacobs, Zhahirul Islam
Although Guillain-Barré syndrome (GBS) has higher incidence and poor outcome in Bangladesh, mortality from GBS in Bangladesh has never been explored before. We sought to explore the frequency, timing, and risk factors for deaths from GBS in Bangladesh. We conducted a prospective study on 407 GBS patients who were admitted to Dhaka Medical College Hospital, Dhaka, Bangladesh from 2010 to 2013. We compared deceased and alive patients to identify risk factors. Cox regression model was used to adjust for confounders...
June 2017: Journal of the Peripheral Nervous System: JPNS
keyword
keyword
102211
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"