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https://www.readbyqxmd.com/read/28620009/recommendations-for-cancer-surveillance-in-individuals-with-rasopathies-and-other-rare-genetic-conditions-with-increased-cancer-risk
#1
REVIEW
Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, Akira Nakagawara, Katherine L Nathanson, Kristian W Pajtler, Stefan M Pfister, Michael F Walsh, Jonathan D Wasserman, Kristin Zelley, Christian P Kratz
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28523540/rubinstein-taybi-syndrome-and-epigenetic-alterations
#2
Edward Korzus
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam et al., Am J Med Genet Suppl 6:56-64, 1990). RSTS is caused by de novo mutations in epigenetics-associated genes, including the cAMP response element-binding protein (CREBBP), the gene-encoding protein referred to as CBP, and the EP300 gene, which encodes the p300 protein, a CBP homologue...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#3
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28395077/the-social-security-administration-s-compassionate-allowances-initiative-condition-spotlight-on-rubinstein-taybi-syndrome
#4
Shanna L Burke, Peter Maramaldi
The Social Security Administration (SSA) Compassionate Allowances List (CAL) was created in 2008, generating a mechanism within SSA for identifying diseases and other medical conditions that by definition meet social security's standards for disability benefits. Currently, over 200 conditions are included in this expedited review program, though few of them are neurodevelopmental in nature. Exploration of a novel method for inclusion of additional conditions on CAL was undertaken using one condition as an exemplar...
February 1, 2017: Health & Social Work
https://www.readbyqxmd.com/read/28144878/diverse-profiles-of-anxiety-related-disorders-in-fragile-x-cornelia-de-lange-and-rubinstein-taybi-syndromes
#5
Hayley Crawford, Jane Waite, Chris Oliver
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales...
January 31, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28027063/rubinstein-taybi-because-of-a-novel-ep300-mutation-with-novel-clinical-findings
#6
Mateusz Jagla, Tomasz B Tomasik, Ola Czyz, Mateusz Krol, Jeroen K J van Houdt, Przemko Kwinta, Beata A Nowakowska
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27964710/first-case-report-of-inherited-rubinstein-taybi-syndrome-associated-with-a-novel-ep300-variant
#7
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. CASE PRESENTATION: Here we describe a familial RSTS case, associated with a novel EP300 mutation...
December 13, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27924288/hysterectomy-due-to-abnormal-uterine-bleeding-in-a-15-year-old-girl-with-rubinstein-taybi-syndrome
#8
Kwang Ho Lee, Eun Young Park, Sang Woo Jung, Seung Woo Song, Hyun Kyo Lim
Rubinstein-Taybi syndrome is characterized by mental retardation, atypical facial features, broad thumbs and toes, and scoliosis. Polycystic ovaries are associated with chronic anovulation and abnormal uterine bleeding. A 15-year old female patient was diagnosed with Rubinstein-Taybi Syndrome, and had prolonged abnormal uterine bleeding for 2 years, accompanied by a polycystic ovary. As she showed no improvement during hormonal therapy or medical treatment, a hysterectomy was performed to control the bleeding...
September 2016: Journal of Lifestyle Medicine
https://www.readbyqxmd.com/read/27867341/disorders-of-transcriptional-regulation-an-emerging-category-of-multiple-malformation-syndromes
#9
REVIEW
Kosuke Izumi
Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27802104/a-comparative-study-of-sociability-in-angelman-cornelia-de-lange-fragile-x-down-and-rubinstein-taybi-syndromes-and-autism-spectrum-disorder
#10
Joanna Moss, Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, Chris Oliver
Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted...
November 2016: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/27775287/-distal-pancreatectomy-as-surgical-option-in-pancreas-divisum-associated-with-rubinstein-taybi-syndrome
#11
H Delgado Bartra, F M Lapouble Ramírez, J Bonilla Pabón, S T Vega Centeno
INTRODUCTION: The Rubinstein-Taybi syndrome and pancreas divisum are uncommon diseases in children. The Rubinstein-Taybi syndrome diagnosis is only clinical, and mental retardation and dysmorphic features mainly characterize it. The PD relates to idiopathic pancreatitis in 7.5% of patients suffering from this disorder. It has not been found any cases reported where these diseases are associated and the management of patients with pancreatitis associated with PD is still a challenge. CLINICAL CASE: A patient diagnosed with Rubinstein-Taybi syndrome has recurrent abdominal pain of six months and elevated pancreatic enzymes, he underwent a magnetic resonance imaging where pancreas divisum is suspected...
April 15, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27672547/coffin-siris-syndrome-with-caf%C3%A3-au-lait-spots-obesity-and-hyperinsulinism-caused-by-a-mutation-in-the-arid1b-gene
#12
Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz
Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, café-au-lait (CAL) spots, obesity and hyperinsulinism...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27648933/phenotype-and-genotype-in-52-patients-with-rubinstein-taybi-syndrome-caused-by-ep300-mutations
#13
Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M Armour, Benoit Arveiler, Lex Beets, Lydie Burglen, Tiffany Busa, Marie Collet, Julie Deforges, Bert B A de Vries, Elena Dominguez Garrido, Nathalie Dorison, Juliette Dupont, Christine Francannet, Sixto Garciá-Minaúr, Elisabeth Gabau Vila, Samuel Gebre-Medhin, Blanca Gener Querol, David Geneviève, Marion Gérard, Cristina Giovanna Gervasini, Alice Goldenberg, Dragana Josifova, Katherine Lachlan, Saskia Maas, Bruno Maranda, Jukka S Moilanen, Ann Nordgren, Philippe Parent, Julia Rankin, Willie Reardon, Marlène Rio, Joëlle Roume, Adam Shaw, Robert Smigiel, Amaia Sojo, Benjamin Solomon, Agnieszka Stembalska, Constance Stumpel, Francisco Suarez, Paulien Terhal, Simon Thomas, Renaud Touraine, Alain Verloes, Catherine Vincent-Delorme, Josephine Wincent, Dorien J M Peters, Oliver Bartsch, Lidia Larizza, Didier Lacombe, Raoul C Hennekam
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients...
September 20, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27567660/rubinstein-taybi-syndrome-with-psychosis
#14
Joel Philip, N M Patil
No abstract text is available yet for this article.
August 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27566421/progress-in-pediatrics-in-2015-choices-in-allergy-endocrinology-gastroenterology-genetics-haematology-infectious-diseases-neonatology-nephrology-neurology-nutrition-oncology-and-pulmonology
#15
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27465822/rubinstein-taybi-syndrome-type-2-report-of-nine-new-cases-that-extend-the-phenotypic-and-genotypic-spectrum
#16
Mark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Jane A Hurst, Emma Clement, William Reardon, Shelagh Joss, Emma Hobson, Moira Blyth, Maryam Al-Shehhi, Sally A Lynch, Mohnish Suri
Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because of EP300 mutations. Clinical and genetic data were obtained from nine patients from the UK and Ireland with pathogenic EP300 mutations, identified either by targeted testing or by exome sequencing...
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27386132/whole-exome-sequencing-reveals-ep300-mutation-in-mildly-affected-female-expansion-of-the-spectrum
#17
Elizabeth A Sellars, Bonnie R Sullivan, G Bradley Schaefer
Rubinstein-Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.
July 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27366579/anaesthetic-management-of-children-with-rubinstein-taybi-syndrome
#18
Mahmut Alp Karahan, Hüseyin Sert, Zeliha Ayhan, Bülend Ayhan
Rubinstein-Taybi syndrome (RTS) is a rare, autosomal dominant syndrome presenting with mental retardation and physical abnormalities, including broad thumbs, big and broad toes, short stature and craniofacial anomalies. Special attention was paid to the possibilities of difficult airway, aspiration pneumonia and cardiovascular dysfunction during anaesthesia. Micrognathia, retrognathia, broad nasal bridge, abnormally large or 'beak-shaped' nose, hypoplastic maxilla and small mouth-typical dysmorphic facial features are one of the biggest causes of the difficult airway in this syndrome...
June 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27322716/one-to-watch-a-germ-cell-tumor-arising-in-an-undescended-testicle-in-rubinstein-taybi-syndrome
#19
Grainne H Butler, Michael Boyle, Sally Ann Lynch, Stephanie Ryan, Michael McDermott, Michael Capra
A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest...
August 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27311832/crebbp-mutations-in-individuals-without-rubinstein-taybi-syndrome-phenotype
#20
Leonie A Menke, Martine J van Belzen, Marielle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H Gerkes, Mariëtte J V Hoffer, Denise Horn, Sarina G Kant, Didier Lacombe, Eyby Leon, Saskia M Maas, Daniela Melis, Valentina Muto, Soo-Mi Park, Hilde Peeters, Dorien J M Peters, Rolph Pfundt, Conny M A van Ravenswaaij-Arts, Marco Tartaglia, Raoul C M Hennekam
Mutations in CREBBP cause Rubinstein-Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did not, or only in a very limited manner, resemble Rubinstein-Taybi syndrome. The combined facial signs typical for Rubinstein-Taybi syndrome were absent, none had broad thumbs, and three had only somewhat broad halluces. All had apparent developmental delay (being the reason for molecular analysis); five had short stature and seven had microcephaly...
October 2016: American Journal of Medical Genetics. Part A
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