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https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#1
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...
September 28, 2017: 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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28933290/nutraceuticals-and-repurposed-drugs-of-phytochemical-origin-in-prevention-and-interception-of-chronic-degenerative-disease-and-cancer
#7
Adriana Albini, Barbara Bassani, Denisa Baci, Katiuscia Dallaglio, Matteo Gallazzi, Paola Corradino, Antonino Bruno, Douglas M Noonan
Chronic, degenerative diseases are often characterized by inflammation and aberrant angiogenesis. For many of these pathologies, including rheumatoid arthritis, cardiovascular and autoimmune diseases, cancer, diabetes, and obesity, current therapies have limited efficacy, thus the validation of novel (chemo)preventive and interceptive approaches, of new or repurposed agents, alone or in combination with registered drugs, are urgently required. Phytochemicals (triterpenoids, flavonoids, retinoids) and their derivatives, non-steroidal anti-inflammatory drugs (aspirin) as well as biguanides (metformin and phenformin) originally developed from phytochemical backbones, are multi-target agents showing anti-angiogenic and anti-anti-inflammatory proprieties...
September 20, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#8
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
November 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28873355/pulmonary-interstitial-glycogenosis-associated-with-a-spectrum-of-neonatal-pulmonary-disorders
#9
Ernest Cutz, Rose Chami, Sharon Dell, Jacob Langer, David Manson
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...
September 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/28828065/regenerate-bone-fracture-rate-following-femoral-lengthening-in-paediatric-patients
#10
N G Burke, A J Cassar-Gheiti, J Tan, G McHugh, B J O'Neil, M Noonan, D Moore
PURPOSE: Femoral lengthening using a circular or mono-lateral frame is a commonly used technique. Fracture at the site of the regenerate bone is a major concern especially following removal of the external fixator. This aim of this study was to assess the rate of fracture of the regenerate bone in this single surgeon series of paediatric patients and determine potential risk factors. METHODS: Retrospective review of all the femoral lengthening performed by the senior author was performed...
June 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28777851/-analysis-of-genomic-copy-number-variations-in-36-fetuses-with-heart-malformations-using-next-generation-sequencing
#11
Ming Gao, Hong Pang, Yanhui Zhao, Jesse Li-Ling
OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28768581/cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#12
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, M Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, M Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
July 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#13
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28749921/update-interim-guidance-for-health-care-providers-caring-for-pregnant-women-with-possible-zika-virus-exposure-united-states-including-u-s-territories-july-2017
#14
Titilope Oduyebo, Kara D Polen, Henry T Walke, Sarah Reagan-Steiner, Eva Lathrop, Ingrid B Rabe, Wendi L Kuhnert-Tallman, Stacey W Martin, Allison T Walker, Christopher J Gregory, Edwin W Ades, Darin S Carroll, Maria Rivera, Janice Perez-Padilla, Carolyn Gould, Jeffrey B Nemhauser, C Ben Beard, Jennifer L Harcourt, Laura Viens, Michael Johansson, Sascha R Ellington, Emily Petersen, Laura A Smith, Jessica Reichard, Jorge Munoz-Jordan, Michael J Beach, Dale A Rose, Ezra Barzilay, Michelle Noonan-Smith, Denise J Jamieson, Sherif R Zaki, Lyle R Petersen, Margaret A Honein, Dana Meaney-Delman
CDC has updated the interim guidance for U.S. health care providers caring for pregnant women with possible Zika virus exposure in response to 1) declining prevalence of Zika virus disease in the World Health Organization's Region of the Americas (Americas) and 2) emerging evidence indicating prolonged detection of Zika virus immunoglobulin M (IgM) antibodies. Zika virus cases were first reported in the Americas during 2015-2016; however, the incidence of Zika virus disease has since declined. As the prevalence of Zika virus disease declines, the likelihood of false-positive test results increases...
July 28, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28745539/congenital-heart-disease-and-genetic-syndromes-new-insights-into-molecular-mechanisms
#15
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
September 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28706902/environmental-asbestos-exposure-and-risk-of-mesothelioma
#16
REVIEW
Curtis W Noonan
Mesothelioma is commonly considered an occupational disease occurring as a result of asbestos exposure in the workplace. Several avenues for environmental asbestos exposures have been described and may be associated with asbestos related disease, including mesothelioma. Worker take-home asbestos, or para-occupational exposure, has been well documented and is the most commonly reported pathway for asbestos exposure among mesothelioma cases that do not have history of occupational asbestos exposure. Observational studies have evaluated several communities with elevated mesothelioma incidence and environmental exposures attributed to local asbestos-related industries...
June 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28700417/genetics-of-paediatric-cardiomyopathies
#17
Stephanie M Ware
PURPOSE OF REVIEW: Paediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the paediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. RECENT FINDINGS: With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified at a rapid rate...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#18
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28614966/persistently-elevated-nuchal-translucency-and-the-fetal-heart
#19
Trisha V Vigneswaran, Tessa Homfray, Lindsey D Allan, John M Simpson, Vita Zidere
OBJECTIVE: To describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) >6 mm whom underwent fetal echocardiography. MATERIALS AND METHODS: Cases were identified following retrospective review of cardiac and genetic findings in fetuses with NE. RESULTS: Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four...
July 4, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28594525/update-in-pediatric-musculoskeletal-infections-when-it-is-when-it-isn-t-and-what-to-do
#20
Alexandre Arkader, Christopher M 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...
February 15, 2017: Instructional Course Lectures
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