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https://www.readbyqxmd.com/read/28927185/the-contribution-of-the-composite-of-clinical-process-indicators-as-a-measure-of-hospital-performance-in-the-management-of-acute-coronary-syndromes-insights-from-the-concordance-registry
#1
Bernadette Aliprandi-Costa, James Sockler, Leonard Kritharides, Lucy Morgan, Lan-Chi Snell, Janice Gullick, David Brieger, Isuru Ranasinghe
Aims: Acute coronary syndrome (ACS) is a costly condition for health service provision yet variation in the delivery of care between hospitals persists. A composite measure of adherence with evidence-based clinical-process indicators (CPIs) could better inform hospital performance reporting and clinical outcomes in the management of ACS. Methods: Data on 7444 ACS patients from 39 Australian hospitals were used to derive a hospital-specific composite quality score by calculating mean adherence to 14 evidence-based CPIs...
January 1, 2017: European Heart Journal. Quality of Care & Clinical Outcomes
https://www.readbyqxmd.com/read/28900824/external-nasal-neuralgia-an-update
#2
REVIEW
Hida Nierenburg, Morgane Swift Morris
PURPOSE OF REVIEW: External nasal neuralgia is a rare syndrome of atypical facial pain for which there is limited reports in the scientific literature. We aim to review diagnosis and provide an update on treatments for this rare condition. RECENT FINDINGS: Etiology has been documented as post-traumatic due to direct trauma to the nose area and in few case reports, idiopathic. Sensory innervation of the nose arises from the ophthalmic and maxillary divisions of the trigeminal nerve...
September 13, 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28894962/ring-chromosomes-from-formation-to-clinical-potential
#3
REVIEW
Inna E Pristyazhnyuk, Aleksei G Menzorov
Ring chromosomes (RCs) are circular DNA molecules, which occur rarely in eukaryotic nuclear genomes. Lilian Vaughan Morgan first described them in the fruit fly. Human embryos very seldom have RCs, about 1:50,000. Carriers of RCs may have varying degrees of symptoms, from healthy phenotype to serious pathologies in physical and intellectual development. Many authors describe common symptoms of RC presence: short stature and some developmental delay that could be described as a "ring chromosome syndrome." As a rule, RCs arise de novo through the end-joining of two DNA double-strand breaks, telomere-subtelomere junction, or inv dup del rearrangement in both meiosis and mitosis...
September 12, 2017: Protoplasma
https://www.readbyqxmd.com/read/28887402/detection-of-long-repeat-expansions-from-pcr-free-whole-genome-sequence-data
#4
Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan Lajoie, Nathan H Johnson, Zoya Kingsbury, Sean J Humphray, Raymond D Schellevis, William J Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H P Tazelaar, Michael A van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Chris Shaw, Bradley Smith, Edmund J Neo, Karren Morrison, Pam Shaw, Catherine Reeves, Lara Winterkorn, Nancy S Wexler, David E Housman, Christopher W Ng, Alina L Li, Ryan J Taft, Leonard H van den Berg, David R Bentley, Jan H Veldink, Michael A Eberle
Identifying large expansions of short tandem repeats (STRs) such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step towards integrating WGS into precision medicine. We have developed a software tool called ExpansionHunter that, using PCR-free WGS short-read data, can genotype repeats at the locus of interest, even if the expanded repeat is larger than the read length...
September 8, 2017: Genome Research
https://www.readbyqxmd.com/read/28878910/hemophagocytosis-lymphocytosis-presenting-as-pulmonary-renal-syndrome-a-case-report-and-literature-review
#5
Morgan Wong, Arpit Rao, Jacklyn Nemunaitis, David Czuchlewski, Shazib Sagheer, Cecilia Arana-Yi
Hemophagocytosis Lymphocytosis (HLH) is a rare and life-threatening illness that is more commonly seen in infants; however, its incidence in adults is becoming more common. Recognizing HLH in a complicated clinical scenario is key to early recognition, treatment, as well as improved morbidity and mortality.
September 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28873116/rowell-syndrome-targeting-a-true-definition
#6
Morgan Green, David Roy
Ever since a rare syndrome of lupus erythematosus (LE) presenting with erythema multiforme (EM)-like lesions was described in 1963, clinicians have questioned the defining characteristics of the so-called Rowell syndrome (RS) in addition to its very existence as a unique pathological entity. In this article, we present a new case of RS and investigate the various components and criteria that have been outlined in the years since this syndrome's original account.
July 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28861870/dopamine-agonists-and-impulse-control-disorders-a-complex-association
#7
REVIEW
Marie Grall-Bronnec, Caroline Victorri-Vigneau, Yann Donnio, Juliette Leboucher, Morgane Rousselet, Elsa Thiabaud, Nicolas Zreika, Pascal Derkinderen, Gaëlle Challet-Bouju
Impulse control disorders (ICDs) are a well-known adverse effect of dopamine agonists (DAAs). This critical review aims to summarize data on the prevalence and factors associated with the development of an ICD simultaneous to DAA use. A search of two electronic databases was completed from inception to July 2017. The search terms were medical subject headings (MeSH) terms including "dopamine agonists" AND "disruptive disorders", "impulse control disorders", or "conduct disorders". Articles had to fulfill the following criteria to be included: (i) the target problem was an ICD; (ii) the medication was a dopaminergic drug; and (iii) the article was an original article...
August 31, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28819025/mre11-promotes-tumorigenesis-by-facilitating-resistance-to-oncogene-induced-replication-stress
#8
Elizabeth Spehalski, Kayla M Capper, Cheryl J Smith, Mary J Morgan, Maria Dinkelmann, Jeffrey Buis, JoAnn M Sekiguchi, David O Ferguson
Hypomorphic mutations in the genes encoding the MRE11/RAD50/NBS1 (MRN) DNA repair complex lead to cancer-prone syndromes. MRN binds DNA double strand breaks where it functions in repair and triggers cell cycle checkpoints via activation of the ataxia-telangiectasia mutated (ATM) kinase. To gain understanding of MRN in cancer, we engineered mice with B lymphocytes lacking MRN, or harboring MRN in which MRE11 lacks nuclease activities. Both forms of MRN deficiency led to hallmarks of cancer, including oncogenic translocations involving c-Myc and the immunoglobulin locus...
August 17, 2017: Cancer Research
https://www.readbyqxmd.com/read/28799194/comparison-of-sleep-structure-and-psychometric-profiles-in-patients-with-fibromyalgia-osteoarthritis-and-healthy-controls
#9
Wai K Yeung, Kevin Morgan, Frank Mckenna
While research indicates that both the macro- and microstructure of sleep may be altered in fibromyalgia syndrome, few studies have controlled for symptom duration or included pain-control participants (i.e. patients with chronic pain and sleep disturbance not associated with fibromyalgia syndrome). A frequently reported alteration found in the sleep microstructure of patients with fibromyalgia syndrome is the alpha-delta sleep anomaly. Although alpha waves have been observed during N3 sleep in healthy individuals, it has been proposed that there is an increase in alpha wave activity during slow-wave sleep in fibromyalgia syndrome...
August 11, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28783043/nbeal2-is-required-for-neutrophil-and-nk-cell-function-and-pathogen-defense
#10
John M Sowerby, David C Thomas, Simon Clare, Marion Espéli, Jose A Guerrero, Kim Hoenderdos, Katherine Harcourt, Morgan Marsden, Juneid Abdul-Karim, Mathew Clement, Robin Antrobus, Yagnesh Umrania, Philippa R Barton, Shaun M Flint, Jatinder K Juss, Alison M Condliffe, Paul A Lyons, Ian R Humphreys, Edwin R Chilvers, Willem H Ouwehand, Gordon Dougan, Kenneth Gc Smith
Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS. We therefore investigated the role of NBEAL2 in immunity by analyzing the phenotype of Nbeal2-deficient mice. We found profound abnormalities in the Nbeal2-deficient immune system, particularly in the function of neutrophils and NK cells...
August 7, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28754676/nsd1-inactivation-and-setd2-mutation-drive-a-convergence-toward-loss-of-function-of-h3k36-writers-in-clear-cell-renal-cell-carcinomas
#11
Xiaoping Su, Jianping Zhang, Roger Mouawad, Eva Compérat, Morgan Roupret, Frederick Allanic, Jérôme Parra, Marc-Olivier Bitker, Erika J Thompson, Banumathy Gowrishankar, Jane Houldsworth, John N Weinstein, Jörg Tost, Bradley M Broom, David Khayat, Jean-Philippe Spano, Nizar M Tannir, Gabriel G Malouf
Extensive dysregulation of chromatin-modifying genes in clear-cell renal cell carcinoma (ccRCC) has been uncovered through next-generation sequencing. However, a scientific understanding of the crosstalk between epigenetic and genomic aberrations remains limited. Here we identify three ccRCC epigenetic clusters, including a clear-cell CpG island methylator phenotype (C-CIMP) subgroup associated with promoter methylation of vascular endothelial growth factor receptor genes (FLT4, FLT1 and KDR). C-CIMP was furthermore characterized by silencing of genes related to vasculature development...
July 28, 2017: Cancer Research
https://www.readbyqxmd.com/read/28743746/de-novo-triiodothyronine-formation-from-thyrocytes-activated-by-thyroid-stimulating-hormone
#12
Cintia E Citterio, Balaji Veluswamy, Sarah J Morgan, Valerie A Galton, J Paul Banga, Stephen Atkins, Yoshiaki Morishita, Susanne Neumann, Rauf Latif, Marvin C Gershengorn, Terry J Smith, Peter Arvan
The thyroid gland secretes primarily tetraiodothyronine (T4), and some triiodothyronine (T3). Under normal physiological circumstances, only one-fifth of circulating T3 is directly released by the thyroid, but in states of hyperactivation of thyroid-stimulating-hormone receptors (TSHRs), patients develop a syndrome of relative T3-toxicosis. Thyroidal T4 production results from iodination of thyroglobulin (TG) at residues Tyr5 and Tyr130, whereas thyroidal T3 production may originate in several different ways...
July 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28730707/establishment-and-characterization-of-a-novel-murine-model-of-pancreatic-cancer-cachexia
#13
Katherine A Michaelis, Xinxia Zhu, Kevin G Burfeind, Stephanie M Krasnow, Peter R Levasseur, Terry K Morgan, Daniel L Marks
BACKGROUND: Cachexia is a complex metabolic and behavioural syndrome lacking effective therapies. Pancreatic ductal adenocarcinoma (PDAC) is one of the most important conditions associated with cachexia, with >80% of PDAC patients suffering from the condition. To establish the cardinal features of a murine model of PDAC-associated cachexia, we characterized the effects of implanting a pancreatic tumour cell line from a syngeneic C57BL/6 KRAS(G12D) P53(R172H) Pdx-Cre(+/+) (KPC) mouse...
July 20, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28696175/venetoclax-a-novel-b-cell-lymphoma-2-inhibitor-for-chronic-lymphocytic-leukemia-and-other-hematologic-malignancies
#14
Jacqueline L Olin, Carrie L Griffiths, Morgan B Smith
Patients with chronic lymphocytic leukemia with the 17p deletion have a poor prognosis and treatment options are limited. Venetoclax, a novel B-cell lymphoma-2 inhibitor, has been approved for treatment-experienced chronic lymphocytic leukemia patients with the 17p deletion. A phase 1 dose-escalation study to 400 mg daily showed overall response rates across all doses of 79% with a complete response achieved in 20%. A phase 2 multicenter open-label study demonstrated overall response rate of 79.4% of patients (95% confidence interval 70...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#15
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#16
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
August 2017: Nature Genetics
https://www.readbyqxmd.com/read/28649192/deleterious-effects-of-chronic-folate-deficiency-in-the-ts65dn-mouse-model-of-down-syndrome
#17
Susan Helm, Morgan Blayney, Taylor Whited, Mahjabin Noroozi, Sen Lin, Semira Kern, David Green, Ahmad Salehi
Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28639312/quantification-of-transmission-risk-in-a-male-patient-with-a-flnb-mosaic-mutation-causing-larsen-syndrome-implications-for-genetic-counseling-in-postzygotic-mosaicism-cases
#18
Marie Bernkopf, David Hunt, Nils Koelling, Tim Morgan, Amanda L Collins, Joanna Fairhurst, Stephen P Robertson, Andrew G L Douglas, Anne Goriely
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep next-generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample...
June 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/28606999/invasive-management-strategies-and-antithrombotic-treatments-in-patients-with-non-st-segment-elevation-acute-coronary-syndrome-in-china-findings-from-the-improving-ccc-project-care-for-cardiovascular-disease-in-china
#19
Qing Yang, Ying Wang, Jing Liu, Jun Liu, Yongchen Hao, Sidney C Smith, Yong Huo, Gregg C Fonarow, Changsheng Ma, Junbo Ge, Kathryn A Taubert, Louise Morgan, Yang Guo, Wei Wang, Yujie Zhou, Dong Zhao
BACKGROUND: Early invasive strategies and antithrombotic treatments are key treatments of non-ST-segment-elevation acute coronary syndrome (NSTE-ACS). Few studies have examined the use of these strategies in patients with NSTE-ACS in China. This study aimed to assess the applications of invasive strategies and antithrombotic treatments in patients with NSTE-ACS and compare their outcomes. METHODS AND RESULTS: A nationwide registry study, Improving CCC (Care for Cardiovascular Disease in China) ACS project, was launched in 2014 as a collaborative study of the American Heart Association and Chinese Society of Cardiology (CSC), with 142 participating hospitals reporting details of clinical management and outcomes of patients with NSTE-ACS...
June 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28597237/energy-conserving-thermoregulatory-patterns-and-lower-disease-severity-in-a-bat-resistant-to-the-impacts-of-white-nose-syndrome
#20
Marianne S Moore, Kenneth A Field, Melissa J Behr, Gregory G Turner, Morgan E Furze, Daniel W F Stern, Paul R Allegra, Sarah A Bouboulis, Chelsey D Musante, Megan E Vodzak, Matthew E Biron, Melissa B Meierhofer, Winifred F Frick, Jeffrey T Foster, Daryl Howell, Joseph A Kath, Allen Kurta, Gerda Nordquist, Joseph S Johnson, Thomas M Lilley, Benjamin W Barrett, DeeAnn M Reeder
The devastating bat fungal disease, white-nose syndrome (WNS), does not appear to affect all species equally. To experimentally determine susceptibility differences between species, we exposed hibernating naïve little brown myotis (Myotis lucifugus) and big brown bats (Eptesicus fuscus) to the fungus that causes WNS, Pseudogymnoascus destructans (Pd). After hibernating under identical conditions, Pd lesions were significantly more prevalent and more severe in little brown myotis. This species difference in pathology correlates with susceptibility to WNS in the wild and suggests that survival is related to different host physiological responses...
June 8, 2017: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
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