keyword
MENU ▼
Read by QxMD icon Read
search

noonans disease

keyword
https://www.readbyqxmd.com/read/28103070/food-insecurity-and-chronic-diseases-among-american-indians-in-rural-oklahoma-the-thrive-study
#1
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
#2
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
#3
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, 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...
January 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/27942593/low-dose-dasatinib-rescues-cardiac-function-in-noonan-syndrome
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#14
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27618759/transient-asymptomatic-pulmonary-opacities-occurring-during-osimertinib-treatment
#15
Sinead A Noonan, Peter B Sachs, D Ross Camidge
INTRODUCTION: Osimertinib is an EGFR inhibitor licensed for the treatment of EGFR-mutant, T790M-positive NSCLC. Previously unreported, frequent transient asymptomatic pulmonary opacities were noted in patients during osimertinib therapy at the University of Colorado. METHODS: Computed tomography imaging and clinical notes on patients with NSCLC who had been treated with osimertinib at the University of Colorado were retrospectively reviewed. RESULTS: Transient asymptomatic pulmonary opacities developed in seven of 20 patients (35%) while they were receiving osimertinib...
December 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27612955/lyme-disease-surveillance-in-new-york-state-an-assessment-of-case-underreporting
#16
J White, C Noonan-Toly, G Lukacik, N Thomas, A Hinckley, S Hook, P B Backenson
Despite the mandatory nature of Lyme disease (LD) reporting in New York State (NYS), it is believed that only a fraction of the LD cases diagnosed annually are reported to public health authorities. Lack of complete LD case reporting generally stems from (i) lack of report of provider-diagnosed cases where supportive laboratory testing is not ordered or results are negative (i.e. provider underreporting) and (ii) incomplete case information (clinical laboratory reporting only with no accompanying clinical information) such that cases are considered 'suspect' and not included in national and statewide case counts (i...
September 10, 2016: Zoonoses and Public Health
https://www.readbyqxmd.com/read/27538962/a-comparison-between-quantitative-pcr-and-droplet-digital-pcr-technologies-for-circulating-microrna-quantification-in-human-lung-cancer
#17
Paola Campomenosi, Elisabetta Gini, Douglas M Noonan, Albino Poli, Paola D'Antona, Nicola Rotolo, Lorenzo Dominioni, Andrea Imperatori
BACKGROUND: Selected microRNAs (miRNAs) that are abnormally expressed in the serum of patients with lung cancer have recently been proposed as biomarkers of this disease. The measurement of circulating miRNAs, however, requires a highly reliable quantification method. Quantitative real-time PCR (qPCR) is the most commonly used method, but it lacks reliable endogenous reference miRNAs for normalization of results in biofluids. When used in absolute quantification, it must rely on the use of external calibrators...
2016: BMC Biotechnology
https://www.readbyqxmd.com/read/27531525/long-term-bosutinib-for-chronic-phase-chronic-myeloid-leukemia-after-failure-of-imatinib-plus-dasatinib-and-or-nilotinib
#18
Jorge E Cortes, Hanna J Khoury, Hagop M Kantarjian, Jeff H Lipton, Dong-Wook Kim, Philippe Schafhausen, Ewa Matczak, Eric Leip, Kay Noonan, Tim H Brümmendorf, Carlo Gambacorti-Passerini
Bosutinib is an Src/Abl tyrosine kinase inhibitor (TKI) indicated for adults with Ph+ chronic myeloid leukemia (CML) resistant/intolerant to prior TKIs. This long-term update of an ongoing phase 1/2 study evaluated the efficacy and safety of third-/fourth-line bosutinib in adults with chronic phase (CP) CML. Median durations of treatment and follow-up were 8.6 (range, 0.2-87.7) months and 32.7 (0.3-93.3) months, respectively. Cumulative confirmed complete hematologic response (cCHR) and major cytogenetic response (MCyR) rates were 74% (95% CI, 65-81%) and 40% (31-50%), respectively; Kaplan-Meier (K-M) probability of maintaining cCHR or MCyR at 4 years was 63% (95% CI, 50-73%) and 69% (52-81%)...
December 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27491085/loss-of-vhl-in-the-zebrafish-pronephros-recapitulates-early-stages-of-human-clear-cell-renal-cell-carcinoma
#19
Haley R Noonan, Ana M Metelo, Caramai N Kamei, Randall T Peterson, Iain A Drummond, Othon Iliopoulos
Patients with von Hippel-Lindau (VHL) disease harbor a germline mutation in the VHL gene leading to the development of several tumor types including clear cell renal cell carcinoma (ccRCC). In addition, the VHL gene is inactivated in over 90% of sporadic ccRCC cases. 'Clear cell' tumors contain large, proliferating cells with 'clear cytoplasm', and a reduced number of cilia. VHL inactivation leads to the stabilization of hypoxia inducible factors 1a and 2a [HIF1a and HIF2a (HIF2a is also known as EPAS1)] with consequent up-regulation of specific target genes involved in cell proliferation, angiogenesis and erythropoiesis...
August 1, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27466008/update-in-pediatric-musculoskeletal-infections-when-it-is-when-it-isn-t-and-what-to-do
#20
Alexandre Arkader, Christopher Brusalis, William C Warner, James H Conway, Kenneth Noonan
Musculoskeletal infections, including osteomyelitis, septic arthritis, and pyomyositis, are a substantial cause of morbidity in children and adolescents. The increased virulence of infectious agents and the increased prevalence of antimicrobial-resistant pathogens, particularly methicillin-resistant Staphylococcus aureus, have resulted in a more complicated clinical course for diagnosis and management, which is evidenced by an increased length of hospital stays, incidence of complications, and number of surgical interventions...
September 2016: Journal of the American Academy of Orthopaedic Surgeons
keyword
keyword
89674
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"