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syndrome noonan

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https://www.readbyqxmd.com/read/29670795/pulmonary-vasculitis-and-a-horseshoe-kidney-in-noonan-syndrome
#1
Surasak Puvabanditsin, Rosanna Abellar, Adaora Madubuko, Rajeev Mehta, Lauren Walzer
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29659837/noonan-syndrome-causing-shp2-mutants-impair-erk-dependent-chondrocyte-differentiation-during-endochondral-bone-growth
#2
Mylène Tajan, Julie Pernin-Grandjean, Nicolas Beton, Isabelle Gennero, Florence Capilla, Benjamin G Neel, Toshiyuki Araki, Philippe Valet, Maithé Tauber, Jean-Pierre Salles, Armelle Yart, Thomas Edouard
Growth retardation is a constant feature of Noonan syndrome (NS) but its physiopathology remains poorly understood. We previously reported that hyperactive NS-causing SHP2 mutants impair the systemic production of insulin-like growth factor 1 (IGF1) through hyperactivation of the RAS/extracellular signal-regulated kinases (ERK) signalling pathway. Besides endocrine defects, a direct effect of these mutants on growth plate has not been explored, although recent studies have revealed an important physiological role for SHP2 in endochondral bone growth...
April 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#3
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
April 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29590115/impaired-neuronal-maturation-of-hippocampal-neural-progenitor-cells-in-mice-lacking-craf
#4
Verena Pfeiffer, Rudolf Götz, Guadelupe Camarero, Helmut Heinsen, Robert Blum, Ulf Rüdiger Rapp
RAF kinases are major constituents of the mitogen activated signaling pathway, regulating cell proliferation, differentiation and cell survival of many cell types, including neurons. In mammals, the family of RAF proteins consists of three members, ARAF, BRAF, and CRAF. Ablation of CRAF kinase in inbred mouse strains causes major developmental defects during fetal growth and embryonic or perinatal lethality. Heterozygous germline mutations in CRAF result in Noonan syndrome, which is characterized by neurocognitive impairment that may involve hippocampal physiology...
2018: PloS One
https://www.readbyqxmd.com/read/29576787/management-of-cardiovascular-disorders-in-patients-with-noonan-syndrome-a-case-report
#5
Mohammad Rafie Khorgami, Maryam Moradian, Negar Omidi, Mohammad Yousef Aarabi Moghadam
The Noonan syndrome is a rare disorder, one of whose major complications is cardiovascular involvement. A wide spectrum of congenital heart diseases has been observed in this syndrome. The most common cardiac disorder is pulmonary valve stenosis, which has a progressive nature. Hypertrophic cardiomyopathy is less common, but its morbidity and mortality rates are high. We herein introduce a 12-year-old boy with the typical findings of the Noonan syndrome. His symptoms began from infancy, and there was a gradual exacerbation in his respiratory and cardiac manifestations with age...
October 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29575624/first-year-growth-in-children-with-noonan-syndrome-associated-with-feeding-problems
#6
Ellen A Croonen, Jos M T Draaisma, Ineke van der Burgt, Nel Roeleveld, Cees Noordam
Children with Noonan syndrome show rapid decline of growth in the first year of life and feeding problems are present in over 50%. The aim of this study was to explore whether growth decelerates because of feeding problems or other Noonan syndrome-related factors. We performed a retrospective, longitudinal cohort study of clinically and genetically diagnosed subjects with Noonan syndrome (n = 143). Questionnaires about the phenotypic-genotypic profile and reported feeding problems were sent to eligible subjects...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29571647/-leopard-syndrome-a-variant-of-noonan-syndrome-with-lentigines
#7
Eloísa de Santiago García-Caro, Ana Pozo Guzmán, Esther Moreno Medinilla
No abstract text is available yet for this article.
March 20, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29559584/gain-of-function-mutations-in-the-gene-encoding-the-tyrosine-phosphatase-shp2-induce-hydrocephalus-in-a-catalytically-dependent-manner
#8
Hong Zheng, Wen-Mei Yu, Ronald R Waclaw, Maria I Kontaridis, Benjamin G Neel, Cheng-Kui Qu
Catalytically activating mutations in Ptpn11 , which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome). However, both types of disease mutations are gain-of-function mutations because they cause SHP2 to constitutively adopt an open conformation. We found that the catalytic activity of SHP2 was required for the pathogenic effects of gain-of-function, disease-associated mutations on the development of hydrocephalus in the mouse...
March 20, 2018: Science Signaling
https://www.readbyqxmd.com/read/29557107/array-comparative-genomic-hybridization-as-the-first-line-investigation-for-neonates-with-congenital-heart-disease-experience-in-a-single-tertiary-center
#9
Bo Geum Choi, Su Kyung Hwang, Jung Eun Kwon, Yeo Hyang Kim
BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled...
March 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29541661/data-on-cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#10
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, Maria 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, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
February 2018: Data in Brief
https://www.readbyqxmd.com/read/29538527/genetic-syndromes-associated-with-congenital-cardiac-defects-and-ophthalmologic-changes-systematization-for-diagnosis-in-the-clinical-practice
#11
Priscila H A Oliveira, Beatriz S Souza, Eimi N Pacheco, Michele S Menegazzo, Ivan S Corrêa, Paulo R G Zen, Rafael F M Rosa, Claudia C Cesa, Lucia C Pellanda, Manuel A P Vilela
BACKGROUND: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. OBJECTIVE: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes...
January 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29501311/anatomical-variations-of-the-thymus-in-relation-to-the-left-brachiocephalic-vein-findings-of-necropsia
#12
Oscar Alonso Plaza, Freddy Moreno
Two cases of anatomical variations of the thymus are presented with respect to the anatomical relations with the left brachiocephalic vein and found during the necropsy process. Less than 2 days after birth with Noonan Syndrome, when the left brachiocephalic vein was scanning behind the upper thymus horns, there were other adjacent lesions consisting of three supernumerary spleens and three hepatic veins. The second case was an 8-year-old infant with child malpractice who died from urinary sepsis due to obstructive uropathy, in which case the upper lobes of the thymus were fused and formed a ring through which the left brachiocephalic vein passed...
April 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29490994/long-term-outcomes-of-hypertrophic-cardiomyopathy-diagnosed-during-childhood-results-from-a-national-population-based-study
#13
Peta M A Alexander, Alan W Nugent, Piers E F Daubeney, Katherine J Lee, Lynn A Sleeper, Tibor Schuster, Christian Turner, Andrew M Davis, Chris Semsarian, Steven D Colan, Terry Robertson, James Ramsay, Robert Justo, Gary F Sholler, Ingrid King, Robert G Weintraub
Background -Late survival and symptomatic status of children with hypertrophic cardiomyopathy (HCM) have not been well defined. We examined long-term outcomes for pediatric HCM. Methods -The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end-point was time to death or cardiac transplantation. Results -There were 80 patients with HCM with median age at diagnosis of 0...
February 28, 2018: Circulation
https://www.readbyqxmd.com/read/29469822/autosomal-recessive-noonan-syndrome-associated-with-biallelic-lztr1-variants
#14
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#15
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29432239/neurocutaneous-disorders
#16
Tena Rosser
PURPOSE OF REVIEW: This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. RECENT FINDINGS: The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29424797/mutation-in-the-adnp-gene-associated-with-noonan-syndrome-features
#17
Ebba Alkhunaizi, Magdalena A Walkiewicz, David Chitayat
No abstract text is available yet for this article.
February 8, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29394990/functional-dysregulation-of-cdc42-causes-diverse-developmental-phenotypes
#18
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorsky, Francesca Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha Schrier Vergano, Katherine G Langley, Douglas Larsen, Kelly D Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza-Londono, Lucie Dupuis, Deborah A Nickerson, Jessica X Chong, Naomi Meeks, Kathleen Brown, Tahnee Causey, Megan T Cho, Stephanie Demuth, Maria Cristina Digilio, Bruce D Gelb, Michael J Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C Hennekam, Marco Tartaglia, Ghayda M Mirzaa
Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome, a developmental disorder caused by dysregulated RAS signaling...
January 17, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29362165/preoperative-detailed-coagulation-tests-are-required-in-patients-with-noonan-syndrome
#19
Anne Morice, Annie Harroche, Pascale Cairet, Roman H Khonsari
PURPOSE: Patients with Noonan syndrome often require surgery at young ages. They are at high risk of perioperative bleeding from coagulation defects that might not have been detected by routine screening. These risks are rarely described in the oral and maxillofacial surgery (OMS) literature. The aim of this study was to evaluate the perioperative bleeding risks associated with Noonan syndrome and to propose preoperative guidelines. MATERIALS AND METHODS: This report describes a retrospective case series of patients with Noonan syndrome who underwent OMS procedures during a continuous observational period (2013 through 2016) in the authors' center...
December 29, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29356064/noonan-syndrome-with-multiple-lentigines-and-associated-craniosynostosis
#20
B S McDonald, M Pigors, D P Kelsell, E A O'Toole, E Burkitt-Wright, B Kerr, K Batta
No abstract text is available yet for this article.
April 2018: Clinical and Experimental Dermatology
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