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https://www.readbyqxmd.com/read/29301918/ers-ats-workshop-report-on-respiratory-health-effects-of-household-air-pollution
#1
Akshay Sood, Nour A Assad, Peter J Barnes, Andrew Churg, Stephen B Gordon, Kevin S Harrod, Hammad Irshad, Om P Kurmi, William J Martin, Paula Meek, Kevin Mortimer, Curtis W Noonan, Rogelio Perez-Padilla, Kirk R Smith, Yohannes Tesfaigzi, Tony Ward, John Balmes
Exposure to household air pollution (HAP) from solid fuel combustion affects almost half of the world population. Adverse respiratory outcomes such as respiratory infections, impaired lung growth and chronic obstructive pulmonary disease have been linked to HAP exposure. Solid fuel smoke is a heterogeneous mixture of various gases and particulates. Cell culture and animal studies with controlled exposure conditions and genetic homogeneity provide important insights into HAP mechanisms. Impaired bacterial phagocytosis in exposed human alveolar macrophages possibly mediates several HAP-related health effects...
January 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29301184/development-of-disease-specific-growth-charts-in-turner-syndrome-and-noonan-syndrome
#2
REVIEW
Tsuyoshi Isojima, Susumu Yokoya
Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29279013/novel-approaches-to-diagnosis-and-treatment-of-juvenile-myelomonocytic-leukemia
#3
Franco Locatelli, Mattia Algeri, Pietro Merli, Luisa Strocchio
Juvenile myelomonocytic leukemia (JMML) is a clonal hematopoietic disorder of infancy/early childhood, resulting from oncogenic mutations in genes involved in the Ras pathway. As JMML often exhibits an aggressive course, the timing of diagnosis and treatment is critical to outcome. Areas covered: This review summarizes current approaches to diagnosis and treatment of JMML, highlighting most recent insights into genetic and epigenetic mechanisms underlying the disease, and providing an overview of novel potential therapeutic strategies...
January 3, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29259247/ras-pathway-mutation-patterns-define-epigenetic-subclasses-in-juvenile-myelomonocytic-leukemia
#4
Daniel B Lipka, Tania Witte, Reka Toth, Jing Yang, Manuel Wiesenfarth, Peter Nöllke, Alexandra Fischer, David Brocks, Zuguang Gu, Jeongbin Park, Brigitte Strahm, Marcin Wlodarski, Ayami Yoshimi, Rainer Claus, Michael Lübbert, Hauke Busch, Melanie Boerries, Mark Hartmann, Maximilian Schönung, Umut Kilik, Jens Langstein, Justyna A Wierzbinska, Caroline Pabst, Swati Garg, Albert Catalá, Barbara De Moerloose, Michael Dworzak, Henrik Hasle, Franco Locatelli, Riccardo Masetti, Markus Schmugge, Owen Smith, Jan Stary, Marek Ussowicz, Marry M van den Heuvel-Eibrink, Yassen Assenov, Matthias Schlesner, Charlotte Niemeyer, Christian Flotho, Christoph Plass
Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative disorder of early childhood characterized by mutations activating RAS signaling. Established clinical and genetic markers fail to fully recapitulate the clinical and biological heterogeneity of this disease. Here we report DNA methylome analysis and mutation profiling of 167 JMML samples. We identify three JMML subgroups with unique molecular and clinical characteristics. The high methylation group (HM) is characterized by somatic PTPN11 mutations and poor clinical outcome...
December 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/29246675/-doubling-up-on-produce-at-detroit-farmers-markets-patterns-and-correlates-of-use-of-a-healthy-food-incentive
#5
Alicia J Cohen, Laurie L Lachance, Caroline R Richardson, Elham Mahmoudi, Jason D Buxbaum, George K Noonan, Ellen C Murphy, Dana N Roberson, Oran B Hesterman, Michele Heisler, Suzanna M Zick
INTRODUCTION: Federal food assistance programs such as the Supplemental Nutrition Assistance Program (SNAP) help address food insecurity, yet many participants still struggle to afford nutritionally adequate foods. The U.S. Department of Agriculture has committed $100 million to the expansion and evaluation of SNAP healthy food incentives, which match SNAP funds spent on produce. However, little is known about who uses SNAP incentives or how often they are used. This study examines patterns and correlates of use of the SNAP incentive Double Up Food Bucks at all eight participating Detroit farmers markets during 2012-2013...
December 6, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29214238/redox-regulation-of-a-gain-of-function-mutation-n308d-in-shp2-noonan-syndrome
#6
Luciana E S F Machado, David A Critton, Rebecca Page, Wolfgang Peti
SHP2 (Src homology 2 domain-containing protein tyrosine phosphatase 2; PTPN11) is a ubiquitous multidomain, nonreceptor protein tyrosine phosphatase (PTP) that plays an important role in diseases such as cancer, diabetes, and Noonan syndrome (NS). NS is one of the most common genetic disorders associated with congenital heart disease, and approximately half of the patients with Noonan syndrome have gain-of-function mutations in SHP2. One of the most common NS mutations is N308D. The activity of SHP2, like that of most PTPs, is reversibly inactivated by reactive oxygen species (ROS)...
November 30, 2017: ACS Omega
https://www.readbyqxmd.com/read/29211371/-primary-lymphedema
#7
Michèle Depairon, Claudia Lessert, Didier Tomson, Lucia Mazzolai
Characterized by an aplasia, hypoplasia or dysplasia of the lymphatic network, the primary lymphedema takes part of rare diseases. If 10 % of cases are congenital, the majority of them are detected before 35 years, most of the time due to an intercurrent event suh as a sprain or an infection. Although rarer, some primaries lymphedemas are family forms such the syndromes of Milroy and Meige. The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29200190/libby-amphibole-disease-pulmonary-function-and-ct-abnormalities-in-vermiculite-miners
#8
Albert Miller, Jaime Szeinuk, Curtis W Noonan, Claudia I Henschke, Jean Pfau, Brad Black, David F Yankelevitz, Mingzhu Liang, Ying Liu, Rowena Yip, Tracy McNew, Laura Linker, Raja Flores
OBJECTIVE: This article describes radiologic and pulmonary function findings among miners exposed to Libby amphibole. Computed tomography permits the detection of the characteristic thin, lamellar pleural thickening (LPT). METHODS: Individuals who worked at the mine for a minimum of 6 months had chest CT and pulmonary function tests. RESULTS: Pleural thickening was noted in 223 (87%) of the 256 miners, parenchymal abnormalities in 49 (19%)...
December 1, 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29189573/quality-of-life-and-health-utility-scores-among-canadian-traumatic-spinal-cord-injury-patients-a-national-cross-sectional-study
#9
Christian Iorio-Morin, Vanessa K Noonan, Barry White, Luc Noreau, Jean Leblond, Frédéric S Dumont, Brian K Kwon, Marcel F Dvorak, Nicolas Dea
STUDY DESIGN: National, multicenter, cross-sectional study. OBJECTIVE: The goal of this study was to provide overall quality of life (QOL) and health utility (HU) values for patients with traumatic spinal cord injury (SCI) stratified by injury level and neurological status. SUMMARY OF BACKGROUND DATA: Traumatic SCI is a leading cause of disability. Varying injury level and severity generate a spectrum of neurological dysfunction and reduction in long-term QOL...
November 17, 2017: Spine
https://www.readbyqxmd.com/read/29170230/molecular-and-cellular-reorganization-of-neural-circuits-in-the-human-lineage
#10
André M M Sousa, Ying Zhu, Mary Ann Raghanti, Robert R Kitchen, Marco Onorati, Andrew T N Tebbenkamp, Bernardo Stutz, Kyle A Meyer, Mingfeng Li, Yuka Imamura Kawasawa, Fuchen Liu, Raquel Garcia Perez, Marta Mele, Tiago Carvalho, Mario Skarica, Forrest O Gulden, Mihovil Pletikos, Akemi Shibata, Alexa R Stephenson, Melissa K Edler, John J Ely, John D Elsworth, Tamas L Horvath, Patrick R Hof, Thomas M Hyde, Joel E Kleinman, Daniel R Weinberger, Mark Reimers, Richard P Lifton, Shrikant M Mane, James P Noonan, Matthew W State, Ed S Lein, James A Knowles, Tomas Marques-Bonet, Chet C Sherwood, Mark B Gerstein, Nenad Sestan
To better understand the molecular and cellular differences in brain organization between human and nonhuman primates, we performed transcriptome sequencing of 16 regions of adult human, chimpanzee, and macaque brains. Integration with human single-cell transcriptomic data revealed global, regional, and cell-type-specific species expression differences in genes representing distinct functional categories. We validated and further characterized the human specificity of genes enriched in distinct cell types through histological and functional analyses, including rare subpallial-derived interneurons expressing dopamine biosynthesis genes enriched in the human striatum and absent in the nonhuman African ape neocortex...
November 24, 2017: Science
https://www.readbyqxmd.com/read/29165300/foxi2-a-possible-gene-contributing-to-ectodermal-dysplasia
#11
Mazen Kurban, Savo Bou Zeineddine, Lamiaa Hamie, Remi Safi, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer
Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population...
November 22, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29120925/noonan-syndrome-an-update-on-growth-and-development
#12
Armelle Yart, Thomas Edouard
PURPOSE OF REVIEW: To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example)...
February 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29074966/mutation-specific-mechanisms-of-hyperactivation-of-noonan-syndrome-sos-molecules-detected-with-single-molecule-imaging-in-living-cells
#13
Yuki Nakamura, Nobuhisa Umeki, Mitsuhiro Abe, Yasushi Sako
Noonan syndrome (NS) is a congenital hereditary disorder associated with developmental and cardiac defects. Some patients with NS carry mutations in SOS, a guanine nucleotide exchange factor (GEF) for the small GTPase RAS. NS mutations have been identified not only in the GEF domain, but also in various domains of SOS, suggesting that multiple mechanisms disrupt SOS function. In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29050118/-gene-mutation-and-clinical-phenotype-analysis-of-patients-with-noonan-syndrome-and-hypertrophic-cardiomyopathy
#14
X H Liu, W W Ding, L Han, X R Liu, Y Y Xiao, J Yang, Y Mo
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#15
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#16
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28957739/novel-mutations-and-their-genotype-phenotype-correlations-in-patients-with-noonan-syndrome-using-next-generation-sequencing
#17
Alireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, Rahim Vakili, Morteza Moghaddassian, Martha Ghahraman, Valentina Muto, Stefano Paolacci, Fatemeh Fardi Golyan, Mohammad Reza Abbaszadegan
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. MATERIALS/METHODS: Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as phase two, Next Generation Sequencing (NGS) in the form of targeted resequencing was utilized for analysis of exons from other related genes...
September 26, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28945734/heart-and-lung-complications-assessment-and-prevention-of-venous-thromboembolism-and-cardiovascular-disease-in-patients-with-multiple-myeloma%C3%A2
#18
Kimberly Noonan, Sandra Rome, Beth Faiman, Daniel Verina
BACKGROUND: Venous thromboembolism (VTE) and cardiovascular (CV) disease can occur in patients with multiple myeloma. Although VTE and CV disease are separate medical conditions, they can be serious and even life-threatening.
. OBJECTIVES: The objectives of this article are to describe risk factors for cancer-associated VTE, describe the influence of CV disease on patients with multiple myeloma, and review the approaches to VTE and CV disease identification and treatment...
October 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28945729/bone-health-pain-and-mobility-evidence-based-recommendations-for-patients-with-multiple-myeloma%C3%A2
#19
Sandra Rome, Kimberly Noonan, Page Bertolotti, Joseph D Tariman, Teresa Miceli
BACKGROUND: About 85% of patients with multiple myeloma develop bone disease. In these patients, lytic bone lesions can cause fractures, poor circulation, blood clots, pain, poor mobility, and decreased quality of life.
. OBJECTIVES: This article presents consensus statements to guide nurses in the assessment and management of bone disease, pain, and mobility in patients with multiple myeloma at varying points in their disease trajectory.
. METHODS: Members of the International Myeloma Foundation Nurse Leadership Board reviewed previously provided recommendations, current recommendations based on literature review, and evidence-based grading...
October 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28942122/clcn7-f318l-as-a-new-mouse-model-of-albers-sch%C3%A3-nberg-disease
#20
J Caetano-Lopes, S G Lessard, S Hann, K Espinoza, K S Kang, K E Lim, D J Horan, H R Noonan, D Hu, R Baron, A G Robling, M L Warman
Dominant negative mutations in CLCN7, which encodes a homodimeric chloride channel needed for matrix acidification by osteoclasts, cause Albers-Schönberg disease (also known as autosomal dominant osteopetrosis type 2). More than 25 different CLCN7 mutations have been identified in patients affected with Albers-Schönberg disease, but only one mutation (Clcn7(G213R)) has been introduced in mice to create an animal model of this disease. Here we describe a mouse with a different osteopetrosis-causing mutation (Clcn7(F318L))...
September 20, 2017: Bone
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