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Noonan syndrome

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https://www.readbyqxmd.com/read/28330516/treatment-of-severe-refractory-valvar-pulmonary-stenosis-with-primary-transcatheter-pulmonary-valve-implantation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28144274/noonan-syndrome-a-new-survey
#12
Alireza Tafazoli, Peyman Eshraghi, Zahra Kamel Koleti, Mohammadreza Abbaszadegan
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome...
February 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28098151/juvenile-myelomonocytic-leukemia-associated-variants-are-associated-with-neo-natal-lethal-noonan-syndrome
#13
Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen, Matthew S Lebo
Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28074573/structural-functional-and-clinical-characterization-of-a-novel-ptpn11-mutation-cluster-underlying-noonan-syndrome
#14
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B Ferrero, Simone Martinelli, Marco Tartaglia
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu(261) , Leu(262) , and Arg(265) in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28050463/cardiofaciocutaneous-syndrome-case-report-of-a-rare-disorder
#15
Soutrik Seth, Tanmoy Biswas, Biswajit Biswas, Atanu Roy, Asok Kumar Datta
Cardiofaciocutaneous syndrome or CFC syndrome is a rare genetic disorder first described in 1986. It is one of the RASopathies involving multiple organs particularly the heart, skin and face affecting males and females equally. The phenotypic features overlap with 2 other conditions, the Noonan and Costello syndrome. We report on a 22-month-old boy with CFC syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, growth failure and developmental delay. Estimated population of affected individuals worldwide is a few hundreds...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28029604/hemorrhagic-pseudotumors-of-iliac-bones-in-noonan-syndrome-pet-ct-imaging
#16
K D Nguyen, B D Nguyen
No abstract text is available yet for this article.
October 28, 2016: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/28018461/hashimoto-thyroiditis-with-an-unusual-presentation-of-cardiac-tamponade-in-noonan-syndrome
#17
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#18
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#19
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27942593/low-dose-dasatinib-rescues-cardiac-function-in-noonan-syndrome
#20
Jae-Sung Yi, Yan Huang, Andrea T Kwaczala, Ivana Y Kuo, Barbara E Ehrlich, Stuart G Campbell, Frank J Giordano, Anton M Bennett
Noonan syndrome (NS) is a common autosomal dominant disorder that presents with short stature, craniofacial dysmorphism, and cardiac abnormalities. Activating mutations in the PTPN11 gene encoding for the Src homology 2 (SH2) domain-containing protein tyrosine phosphatase-2 (SHP2) causes approximately 50% of NS cases. In contrast, NS with multiple lentigines (NSML) is caused by mutations that inactivate SHP2, but it exhibits some overlapping abnormalities with NS. Protein zero-related (PZR) is a SHP2-binding protein that is hyper-tyrosyl phosphorylated in the hearts of mice from NS and NSML, suggesting that PZR and the tyrosine kinase that catalyzes its phosphorylation represent common targets for these diseases...
December 8, 2016: JCI Insight
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