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https://www.readbyqxmd.com/read/28432141/the-spacing-effect-for-structural-synaptic-plasticity-provides-specificity-and-precision-in-plastic-changes
#1
Martin A San, L Rela, B D Gelb, M R Pagani
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM). This phenomenon known as "the spacing effect for memory" is poorly understood. LTM is supported by structural synaptic plasticity; however, how synapses integrate spaced stimuli remains elusive. Here, we analyzed events of structural synaptic plasticity at the single synapse level after distinct patterns of stimulation in motoneurons of Drosophila We found that the spacing effect is a phenomenon detected at synaptic level, which determine the specificity and the precision in structural synaptic plasticity...
April 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28416200/comparison-of-qrs-duration-and-associated-cardiovascular-events-in-american-indian-men-versus-women-the-strong-heart-study
#2
Jason F Deen, Dorothy A Rhoades, Carolyn Noonan, Lyle G Best, Peter M Okin, Richard B Devereux, Jason G Umans
Electrocardiographic QRS duration at rest is associated with sudden cardiac death and death from coronary heart disease in the general population. However, its relation to cardiovascular events in American Indians, a population with persistently high cardiovascular disease mortality, is unknown. The relation of QRS duration to incident cardiovascular disease during 17.2 years of follow-up was assessed in 1,851 male and female Strong Heart Study participants aged 45 to 74 years without known cardiovascular disease at baseline...
March 16, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#3
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28289718/elucidation-of-mras-mediated-noonan-syndrome-with-cardiac-hypertrophy
#4
Erin M Higgins, J Martijn Bos, Heather Mason-Suares, David J Tester, Jaeger P Ackerman, Calum A MacRae, Katia Sol-Church, Karen W Gripp, Raul Urrutia, Michael J Ackerman
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed "RASopathies," which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway proteins. Whole exome sequencing (WES) and trio-based genomic triangulation of a 15-year-old female with a clinical diagnosis of NS and concomitant cardiac hypertrophy and her unaffected parents identified a de novo variant in MRAS-encoded RAS-related protein 3 as the cause of her disease...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28261276/dietary-intake-is-associated-with-respiratory-health-outcomes-and-dna-methylation-in-children-with-asthma
#5
L Montrose, T J Ward, E O Semmens, Y H Cho, B Brown, C W Noonan
BACKGROUND: Asthma is an increasingly common chronic disease among children, and data point toward a complex mechanism involving genetic, environmental and epigenetic factors. Epigenetic modifications such as DNA hypo- or hyper-methylation have been shown to occur in response to environmental exposures including dietary nutrients. METHODS: Within the context of the asthma randomized trial of indoor wood smoke (ARTIS) study, we investigated relationships between diet, asthma health measures, and DNA methylation...
2017: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/28258242/successful-cardiac-transplantation-outcomes-in-patients-with-adult-congenital-heart-disease
#6
Jonathan N Menachem, Jessica R Golbus, Maria Molina, Jeremy A Mazurek, Nicole Hornsby, Pavan Atluri, Stephanie Fuller, Edo Y Birati, Yuli Y Kim, Lee R Goldberg, Joyce W Wald
OBJECTIVES: The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). BACKGROUND: Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT...
March 3, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28229064/abnormal-auditory-brainstem-response-abr-findings-in-a-near-normal-hearing-child-with-noonan-syndrome
#7
Bahram Jalaei, Mohd Normani Zakaria, Dinsuhaimi Sidek
INTRODUCTION: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist. CASE REPORT: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28103070/food-insecurity-and-chronic-diseases-among-american-indians-in-rural-oklahoma-the-thrive-study
#8
Valarie Blue Bird Jernigan, Marianna S Wetherill, Jordan Hearod, Tvli Jacob, Alicia L Salvatore, Tamela Cannady, Mandy Grammar, Joy Standridge, Jill Fox, Jennifer Spiegel, AnDina Wiley, Carolyn Noonan, Dedra Buchwald
OBJECTIVES: To examine food insecurity and cardiovascular disease-related health outcomes among American Indians (AIs) in rural Oklahoma. METHODS: We surveyed a cross-sectional sample of 513 AI adults to assess food insecurity domains (i.e., food quality and quantity) and obesity, diabetes, and hypertension. RESULTS: Among AIs surveyed, 56% reported inadequate food quantity and 62% reported inadequate food quality. The unadjusted prevalence of diabetes (28...
March 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28076577/chronic-kidney-disease-of-nontraditional-etiology-in-central-america-a-provisional-epidemiologic-case-definition-for-surveillance-and-epidemiologic-studies
#9
Matthew Lozier, Reina Maria Turcios-Ruiz, Gary Noonan, Pedro Ordunez
SYNOPSIS Over the last two decades, experts have reported a rising number of deaths caused by chronic kidney disease (CKD) along the Pacific coast of Central America, from southern Mexico to Costa Rica. However, this specific disease is not associated with traditional causes of CKD, such as aging, diabetes, or hypertension. Rather, this disease is a chronic interstitial nephritis termed chronic kidney disease of nontraditional etiology (CKDnT). According to the Pan American Health Organization (PAHO) mortality database, there are elevated rates of deaths related to kidney disease in many of these countries, with the highest rates being reported in El Salvador and Nicaragua...
November 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28074573/structural-functional-and-clinical-characterization-of-a-novel-ptpn11-mutation-cluster-underlying-noonan-syndrome
#10
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B Ferrero, Simone Martinelli, Marco Tartaglia
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu(261) , Leu(262) , and Arg(265) in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/27942593/low-dose-dasatinib-rescues-cardiac-function-in-noonan-syndrome
#11
Jae-Sung Yi, Yan Huang, Andrea T Kwaczala, Ivana Y Kuo, Barbara E Ehrlich, Stuart G Campbell, Frank J Giordano, Anton M Bennett
Noonan syndrome (NS) is a common autosomal dominant disorder that presents with short stature, craniofacial dysmorphism, and cardiac abnormalities. Activating mutations in the PTPN11 gene encoding for the Src homology 2 (SH2) domain-containing protein tyrosine phosphatase-2 (SHP2) causes approximately 50% of NS cases. In contrast, NS with multiple lentigines (NSML) is caused by mutations that inactivate SHP2, but it exhibits some overlapping abnormalities with NS. Protein zero-related (PZR) is a SHP2-binding protein that is hyper-tyrosyl phosphorylated in the hearts of mice from NS and NSML, suggesting that PZR and the tyrosine kinase that catalyzes its phosphorylation represent common targets for these diseases...
December 8, 2016: JCI Insight
https://www.readbyqxmd.com/read/27939989/identification-of-demethylincisterol-a3-as-a-selective-inhibitor-of-protein-tyrosine-phosphatase-shp2
#12
Chuan Chen, Fan Liang, Bo Chen, Zhongyi Sun, Tongdan Xue, Runlei Yang, Duqiang Luo
Shp2 is a classical non-receptor protein tyrosine phosphatase (PTP) involved in many human diseases such as Noonan syndrome and tumors, and identified as a potential therapeutic target. In order to find a potent and selective Shp2 inhibitor, we screened a diverse collection of the secondary metabolites from endophyte fungi using an in vitro enzyme assay, and finally identified a potent Shp2 inhibitor, HLP46 (demethylincisterol A3) from Pestalotiopsis sp. HLP46 was reported to have anti-tumor and anti-inflammation activity previously...
December 8, 2016: European Journal of Pharmacology
https://www.readbyqxmd.com/read/27924618/cardiovascular-disease-risk-factors-and-health-outcomes-among-american-indians-in-oklahoma-the-thrive-study
#13
Valarie Blue Bird Jernigan, Marianna Wetherill, Jordan Hearod, Tvli Jacob, Alicia L Salvatore, Tamela Cannady, Mandy Grammar, Joy Standridge, Jill Fox, Jennifer Spiegel, AnDina Wiley, Carolyn Noonan, Dedra Buchwald
INTRODUCTION: Limited available data document higher prevalences of cardiovascular disease (CVD) risk factors and health outcomes among American Indians (AIs) compared to other racial/ethnic groups. METHODS: As part of a randomized control trial to improve tribal food and physical activity environments, our tribal-academic partnership surveyed a cross-sectional sample of American Indian adults (n = 513) to assess the prevalence of type 2 diabetes, obesity, hypertension, tobacco use, physical activity, and vegetable and fruit intake...
December 6, 2016: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/27893452/confounding-of-the-association-between-radiation-exposure-from-ct-scans-and-risk-of-leukemia-and-brain-tumors-by-cancer-susceptibility-syndromes
#14
Johanna M Meulepas, Cécile M Ronckers, Johannes Merks, Michel E Weijerman, Jay H Lubin, Michael Hauptmann
Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients...
December 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27878339/multifocal-tenosynovial-giant-cell-tumors-in-a-child-with-noonan-syndrome
#15
Arthur B Meyers, Agboola O Awomolo, Sara Szabo
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis...
November 23, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27830533/analysis-of-the-impact-of-cd200-on-phagocytosis
#16
Anthony Lyons, Aedín M Minogue, Raasay S Jones, Orla Fitzpatrick, Janis Noonan, Veronica A Campbell, Marina A Lynch
One factor that impacts on microglial activation is the interaction between the ubiquitously expressed CD200 and CD200R, which is expressed only on microglia in the brain. Decreased signalling through CD200R, when CD200 expression is reduced, results in microglial activation and may, at least in part, explain the increased cell activity that is observed with age, in models of Alzheimer's and Parkinson's disease as well as in the human diseases. There is evidence of increased microglial activation in CD200-deficient mice, and isolated microglia prepared from these mice are more reactive to inflammatory stimuli like Toll-like receptor 2 and 4 agonists, and interferon-γ...
November 9, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27818849/assessing-feasibility-and-readiness-to-address-obesity-through-policy-in-american-indian-reservations
#17
Valarie Blue Bird Jernigan, Gail Boe, Carolyn Noonan, Leslie Carroll, Dedra Buchwald
The Institute of Medicine and Centers for Disease Control and Prevention (CDC) have identified policy and environmental strategies as critical to the prevention and control of obesity. However such strategies are rare in American Indian communities despite significant obesity-related disparities. Tribal policymaking processes differ by tribal nation and are often poorly understood by researchers and public health practitioners, hindering the dissemination, implementation, and successful scale-up of evidence-base obesity strategies in tribal communities...
2016: Journal of Health Disparities Research and Practice
https://www.readbyqxmd.com/read/27816335/developmental-changes-in-aortic-mechanical-properties-in-normal-fetuses-and-fetuses-with-cardiovascular-disease
#18
Mio Taketazu, Masaya Sugimoto, Hirofumi Saiki, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
BACKGROUND: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development. METHODS: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks)...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/27799978/multifocal-central-giant-cell-granuloma-a-case-report
#19
Tamgadge Sandhya, Tamgadge Avinash, Dhauskar Snehal, Tiwari Neha, Mudaliar Uma
Central giant cell granuloma is a benign, aggressive neoplasm composed of multinucleated giant cells that almost exclusively occurs in the jaws though extra- gnathic incidence is rare. Multifocal CGCGs of the jaws are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan- like multiple giant cell lesion syndrome or other disorders.Very few cases of multifocal CGCGs in the jaws without any concomitant systemic disease have been reported. This paper describes an unusual case reported to the Oral Surgery Department of Dr...
2016: Iranian Journal of Pathology
https://www.readbyqxmd.com/read/27736153/sh2-domain-containing-phosphatase-2-is-a-novel-antifibrotic-regulator-in-pulmonary-fibrosis
#20
Argyrios Tzouvelekis, Guoying Yu, Christian L Lino Cardenas, Jose D Herazo-Maya, Rong Wang, Tony Woolard, Yi Zhang, Koji Sakamoto, Hojin Lee, Jae-Sung Yi, Giuseppe DeIuliis, Nikolaos Xylourgidis, Farida Ahangari, Patty J Lee, Vassilis Aidinis, Erica L Herzog, Robert Homer, Anton M Bennett, Naftali Kaminski
RATIONALE: Idiopathic pulmonary fibrosis (IPF) is a chronic fatal lung disease with dismal prognosis and no cure. The potential role of the ubiquitously expressed SH2 domain-containing tyrosine phosphatase-2 (SHP2) as a therapeutic target has not been studied in IPF. OBJECTIVES: To determine the expression, mechanistic role, and potential therapeutic usefulness of SHP2 in pulmonary fibrosis. METHODS: The effects of SHP2 overexpression and inhibition on fibroblast response to profibrotic stimuli were analyzed in vitro in primary human and mouse lung fibroblasts...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
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