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Noonan syndrome

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https://www.readbyqxmd.com/read/28432141/the-spacing-effect-for-structural-synaptic-plasticity-provides-specificity-and-precision-in-plastic-changes
#1
Martin A San, L Rela, B D Gelb, M R Pagani
In contrast to trials of training without intervals (massed training), training trials spaced over time (spaced training) induce a more persistent memory identified as long-term memory (LTM). This phenomenon known as "the spacing effect for memory" is poorly understood. LTM is supported by structural synaptic plasticity; however, how synapses integrate spaced stimuli remains elusive. Here, we analyzed events of structural synaptic plasticity at the single synapse level after distinct patterns of stimulation in motoneurons of Drosophila We found that the spacing effect is a phenomenon detected at synaptic level, which determine the specificity and the precision in structural synaptic plasticity...
April 21, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#2
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28378436/visual-perception-skills-a-comparison-between-patients-with-noonan-syndrome-and-22q11-2-deletion-syndrome
#3
Giorgia Piccini, Deny Menghini, Antea D'Andrea, Cristina Caciolo, Maria Pontillo, Marco Armando, Francesca Perrino, Luca Mandolesi, Salerni Annabella, Buzzonetti Luca, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Mariagrazia Benassi, Stefano Vicari, Paolo Alfieri
Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome and 22q11...
April 5, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28371260/phenotypic-spectrum-of-costello-syndrome-individuals-harboring-the-rare-hras-mutation-p-gly13asp
#4
Débora Bertola, Michelle Buscarilli, Deborah L Stabley, Laura Baker, Daniel Doyle, Dennis W Bartholomew, Katia Sol-Church, Karen W Gripp
Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. These individuals show a homogeneous phenotype. The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28366775/noonan-syndrome-associated-shp2-mutation-differentially-modulates-the-expression-of-postsynaptic-receptors-according-to-developmental-maturation
#5
Jun-Young Oh, Sangmyung Rhee, Alcino J Silva, Yong-Seok Lee, Hyong Kyu Kim
Glutamate is the major excitatory neurotransmitter in the central nervous system, and related signaling involves both AMPA and NMDA subtype receptors. The expression of glutamate receptors is dynamically regulated during development. Recent studies showed that the dysregulation of glutamate receptor expression and function is associated with neurodevelopmental disorders including intellectual disability. Previously, a Noonan syndrome (NS)-associated SHP2 mutation (SHP2(D61G)) was shown to increase the synaptic delivery of AMPA receptor, subsequently impairing synaptic plasticity and learning in adult mice...
March 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28363362/congenital-chylothorax-as-the-initial-presentation-of-ptpn11-associated-noonan-syndrome
#6
Darius Ebrahimi-Fakhari, Eli Freiman, Monica H Wojcik, Katie Krone, Alicia Casey, Ariel S Winn, Amy E Roberts, Beth D Harper
No abstract text is available yet for this article.
March 28, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28347726/expanding-the-cardiac-spectrum-of-noonan-syndrome-with-rit1-variant-left-main-coronary-artery-atresia-causing-sudden-death
#7
Francis Ramond, Sébastien Duband, Pierre Croisille, Hélène Cavé, Georges Teyssier, Véronique Adouard, Renaud Touraine
Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients...
March 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#8
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28343148/de-novo-mutations-in-cbl-causing-early-onset-paediatric-moyamoya-angiopathy
#9
Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff
BACKGROUND: Moyamoya angiopathy (MMA) is characterised by a progressive stenosis of the terminal part of the internal carotid arteries and the development of abnormal collateral deep vessels. Its pathophysiology is unknown. MMA can be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions (moyamoya syndrome) including some Mendelian diseases. We aimed to investigate the genetic basis of moyamoya using a whole exome sequencing (WES) approach conducted in sporadic cases without any overt symptom suggestive of a known Mendelian moyamoya syndrome...
March 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28330516/treatment-of-severe-refractory-valvar-pulmonary-stenosis-with-primary-transcatheter-pulmonary-valve-implantation
#10
Kalyani R Trivedi, Laurence Robinson, Alain Fraisse
Some patients with pulmonary valve stenosis do not respond to balloon valvuloplasty and must undergo surgical repair. We report the case of a 12-year-old child with pulmonary valve stenosis and Noonan syndrome in whom we performed transcatheter Melody pulmonary valve implantation after balloon dilation failed. The result was excellent. This technique can be proposed as an alternative to surgery in such cases.
March 23, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#11
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28301897/key-insights-into-the-protein-tyrosine-phosphatase-ptpn11-shp2-associated-with-noonan-syndrome-and-cancer
#12
EDITORIAL
Marie-Louise Bondeson
No abstract text is available yet for this article.
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#13
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28289718/elucidation-of-mras-mediated-noonan-syndrome-with-cardiac-hypertrophy
#14
Erin M Higgins, J Martijn Bos, Heather Mason-Suares, David J Tester, Jaeger P Ackerman, Calum A MacRae, Katia Sol-Church, Karen W Gripp, Raul Urrutia, Michael J Ackerman
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed "RASopathies," which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway proteins. Whole exome sequencing (WES) and trio-based genomic triangulation of a 15-year-old female with a clinical diagnosis of NS and concomitant cardiac hypertrophy and her unaffected parents identified a de novo variant in MRAS-encoded RAS-related protein 3 as the cause of her disease...
March 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28258242/successful-cardiac-transplantation-outcomes-in-patients-with-adult-congenital-heart-disease
#15
Jonathan N Menachem, Jessica R Golbus, Maria Molina, Jeremy A Mazurek, Nicole Hornsby, Pavan Atluri, Stephanie Fuller, Edo Y Birati, Yuli Y Kim, Lee R Goldberg, Joyce W Wald
OBJECTIVES: The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). BACKGROUND: Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT...
March 3, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28229064/abnormal-auditory-brainstem-response-abr-findings-in-a-near-normal-hearing-child-with-noonan-syndrome
#16
Bahram Jalaei, Mohd Normani Zakaria, Dinsuhaimi Sidek
INTRODUCTION: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist. CASE REPORT: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. Audiological tests found him to have bilateral mild conductive hearing loss at low frequencies...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#17
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207470/improving-functional-and-aesthetic-outcomes-in-syndromic-patients-with-webbed-neck-deformity-utilizing-a-staged-endoscopic-assisted-approach-to-improve-the-posterior-hairline-and-decrease-scar-burden
#18
Emily Van Kouwenberg, Anmol S Chattha, Oluwaseun A Adetayo
INTRODUCTION: Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the extent of the deformity, and patients often also have low posterior hairlines requiring simultaneous correction. Current surgical techniques include various methods of single-stage radical excision that often result in visible scar burden and residual deformity. There is currently no general consensus of which technique provides the best outcomes...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28192847/-gastroparesis-in-noonan-syndrome
#19
Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach, Jessica Rüddel
We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur...
February 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28160302/autism-spectrum-disorder-and-other-neurobehavioural-comorbidities-in-rare-disorders-of-the-ras-mapk-pathway
#20
Shruti Garg, Ami Brooks, Amy Burns, Emma Burkitt-Wright, Bronwyn Kerr, Susan Huson, Richard Emsley, Jonathan Green
AIM: To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD). METHOD: Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale...
February 4, 2017: Developmental Medicine and Child Neurology
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