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Noonan syndrome

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
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
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
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
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
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
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
Ebba Alkhunaizi, Magdalena A Walkiewicz, David Chitayat
No abstract text is available yet for this article.
February 8, 2018: Clinical Dysmorphology
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
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
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.
January 22, 2018: Clinical and Experimental Dermatology
Jonathon Holzmann, Shane M Tibby, Eric Rosenthal, Shakeel Qureshi, Gareth Morgan, Thomas Krasemann
Pulmonary valve stenosis is common in patients with Noonan's syndrome. The response to balloon valvoplasty varies. We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention. METHODS: This is a retrospective study conducted from 1995 to 2014. RESULTS: Of 14 patients identified, seven had re-intervention 28±54 months (range 3-149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention...
January 10, 2018: Cardiology in the Young
Hannah E Thompson, Azizah Almaghyuli, Krist A Noonan, Ohr Barak, Matthew A Lambon Ralph, Elizabeth Jefferies
Semantic cognition, as described by the controlled semantic cognition (CSC) framework (Rogers et al., , Neuropsychologia, 76, 220), involves two key components: activation of coherent, generalizable concepts within a heteromodal 'hub' in combination with modality-specific features (spokes), and a constraining mechanism that manipulates and gates this knowledge to generate time- and task-appropriate behaviour. Executive-semantic goal representations, largely supported by executive regions such as frontal and parietal cortex, are thought to allow the generation of non-dominant aspects of knowledge when these are appropriate for the task or context...
January 3, 2018: Journal of Neuropsychology
Lucy C Young, Pablo Rodriguez-Viciana
MRAS is the closest relative to the classical RAS oncoproteins and shares most regulatory and effector interactions. However, it also has unique functions, including its ability to function as a phosphatase regulatory subunit when in complex with SHOC2 and protein phosphatase 1 (PP1). This phosphatase complex regulates a crucial step in the activation cycle of RAF kinases and provides a key coordinate input required for efficient ERK pathway activation and transformation by RAS. MRAS mutations rarely occur in cancer but deregulated expression may play a role in tumorigenesis in some settings...
January 8, 2018: Cold Spring Harbor Perspectives in Medicine
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
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
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
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
Chen Chao, Feng Li, Zhiping Tan, Weizhi Zhang, Yifeng Yang, Cheng Luo
BACKGROUND: Recent reports have demonstrated that RAF-1L613V (a mutant of RAF-1) mutant mice show bone deformities similar to Noonan syndrome. It has been suggested that RAF-1L613V might abnormally activate osteoblast differentiation of MC3T3-E1 cells. METHODS: To demonstrate that RAF-1 is associated with bone deformity and that RAF-1L613V dependent bone deformity could be inhibited by microRNA-195 (miR-195), we first investigated the amplifying influence of wild-type RAF-1 (WT) or RAF-1L613V (L613V) on the viability and differentiation of MC3T3-E1 cells induced by bone morphogenetic protein-2 (BMP-2) via 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, alkaline phosphatase (ALP) and Alizarin Red S (ARS) staining, quantitative real-time polymerase chain reaction (qRT-PCR) and western blot analysis...
January 15, 2018: Experimental Cell Research
Gabriela E Jones, Sahar Mansour
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system...
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
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