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Добірка наукової літератури з теми "Syndrome de Rubinstein-Taybi"

Автор: Grafiati
Опубліковано: 8 березня 2025

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Статті в журналах з теми "Syndrome de Rubinstein-Taybi"

1

George, Peter, and Ranjith Ravella. "Rubinstein–Taybi syndrome." Indian Journal of Medical Research 152, no. 7 (2020): 236. http://dx.doi.org/10.4103/ijmr.ijmr_2399_19.

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2

Grkovic, Slobodanka, Milos Jesic, Maja Jesic, and Svjetlana Maglajlic. "Rubinstein-Taybi syndrome." Srpski arhiv za celokupno lekarstvo 132, suppl. 1 (2004): 109–10. http://dx.doi.org/10.2298/sarh04s1109g.

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Rubinstein-Taybi syndrome is a malformation occurring with approximate incidence of 1 per 10.000 live-born children. The diagnosis is usually based on specific facial dysmorphism in neonatal period, as well as on characteristic deformities of the hands and feet. Our study presents a male child who was diagnosed to have Rubinstein-Taybi syndrome when he was one month old. The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned.
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3

Khan, Firdous, Tahseen Ahmed Cheema, and Muhammad Tahir. "RUBINSTEIN TAYBI SYNDROME." Professional Medical Journal 23, no. 07 (July 10, 2016): 883–86. http://dx.doi.org/10.29309/tpmj/2016.23.07.1656.

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Rubinstein Taybi Syndrome (RTS) was first described in 1963 by Rubinsteinand Taybi. The characteristic features of this syndrome include broad thumbs and toes,facial abnormalities like hypertelorism, beaked nose, micrognathia, microcephaly and mentalretardation. Cardiac, renal, ophthalmological and various orthopedic problems can also occur.Prevalence in the general population is approximately 1 case per 300,000 persons and is as highas 1 case per 10,000 live births. There is no definite inheritance pattern so far and recurrenceis very unlikely. In some patients, multiple chromosomal anomalies have been described. Wereport here a case of Rubinstein Taybi syndrome in an 18 months old girl presented with typicalfeatures which is the first case reported in our population.
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4

Berry, A. C. "Rubinstein-Taybi syndrome." Journal of Medical Genetics 24, no. 9 (September 1, 1987): 562–66. http://dx.doi.org/10.1136/jmg.24.9.562.

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HENNEKAM, RAOUL C. M. "Rubinstein-Taybi syndrome." Clinical Dysmorphology 2, no. 1 (January 1993): 87???92. http://dx.doi.org/10.1097/00019605-199301000-00013.

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6

Baxter, Garry, and John Beer. "Rubinstein-Taybi Syndrome." Psychological Reports 70, no. 2 (April 1992): 451–56. http://dx.doi.org/10.2466/pr0.1992.70.2.451.

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Rubinstein-Taybi Syndrome was first described in 1957 but only in 1963 as a distinguishable type of moderate mental retardation. The cause is still unknown although some type of genetic origin is possible. No consistent chromosomal abnormality has been demonstrated, the chromosomal analysis is normal, and cases are generally not considered hereditary. The recurrent risk for siblings is approximately 0.1% but may be as high as 50% for offspring of patients with the syndrome. The Rubinstein-Taybi syndrome is not at present detectable before birth and is evenly found in both males and females. The syndrome was thought to be rare but an increase in the number of reported cases each year suggests it is not as rare as estimated. It is thought to occur in about 1 in 300,000 births, and since it has become readily identifiable, more than 400 cases have been reported worldwide.
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7

Das, N., N. Ghosh, S. Biswas, and K. Nayek. "Rubinstein Taybi Syndrome." Journal of Nepal Paediatric Society 33, no. 1 (June 15, 2013): 68–69. http://dx.doi.org/10.3126/jnps.v33i1.7091.

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Rubinstein Taybi is a rare genetic syndrome with characteristic facial features, broad thumb and toes, mental retardation. Diagnosis is mainly clinical. Here we report a 2 and ½ year old female child with typical facial features and other anomalies characteristics of Rubistein Taybi syndrome. Among the different features described-polydactyly, syndactyly, micrognathia are occasional abnormalities to be found in this syndrome. Bilateral pits on posterior aspect of helix is also a feature described in very few literatures. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7091 J Nepal Paediatr Soc. 2013;33(1):68-69
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8

Hennekam, Raoul C. M. "Rubinstein–Taybi syndrome." European Journal of Human Genetics 14, no. 9 (July 26, 2006): 981–85. http://dx.doi.org/10.1038/sj.ejhg.5201594.

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9

Hutchinson, Douglas T., and Ryan Sullivan. "Rubinstein-Taybi Syndrome." Journal of Hand Surgery 40, no. 8 (August 2015): 1711–12. http://dx.doi.org/10.1016/j.jhsa.2014.08.043.

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10

Melekos, Michael, George Barbalias, and Hans Werner Asbach. "Rubinstein-Taybi syndrome." Urology 30, no. 3 (September 1987): 238–39. http://dx.doi.org/10.1016/0090-4295(87)90242-1.

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Дисертації з теми "Syndrome de Rubinstein-Taybi"

1

Powis, Laurie Anne. "Rubinstein-Taybi syndrome : from behaviour to cognition." Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/5260/.

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Examination of Autism Spectrum Disorder (ASD) phenomenology in genetic syndromes can aid our understanding of the aetiological pathways underpinning ASD. The current thesis directed attention to the specific study of Theory of Mind (ToM) development in syndrome groups with a high prevalence of ASD but fractionated social profiles. In an initial group comparison study, Rubinstein-Taybi syndrome (RTS) was highlighted as a syndrome group of interest. When compared to Down syndrome (DS), Fragile X syndrome (FXS) and idiopathic ASD, RTS showed a comparatively high prevalence of ASD but a fractionated ‘sociable’ social profile. As traditional ToM tasks load heavily on cognitive processes they are unsuitable for some individuals with intellectual disability. Consequently, a scaled battery of ToM ‘precursor’ tasks was constructed and validated using a normative sample. This scale was then applied, alongside Wellman and Liu’s (2004) ToM scale, to examine the development of ToM in RTS. An analysis of overall ability indicated that RTS may evidence relatively ‘spared’ early social cognitive skills. However, later ToM skills may be delayed due to memory difficulties. Developmental trajectory analysis indicated that RTS followed a different developmental sequence to the normative sample. Gaze understanding was found to be significantly harder than expected. These findings are discussed in relation to their theoretical implications for models of ToM and ASD, clinical implications for individuals with RTS, and potential areas for future study.
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Waite, Jane. "The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome." Thesis, University of Birmingham, 2012. http://etheses.bham.ac.uk//id/eprint/3548/.

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In a series of studies, repetitive behaviour, executive function development and the links between these constructs were explored in Rubinstein-Taybi syndrome (RTS). An overview of these constructs provided evidence that executive dysfunction might underpin repetitive behaviour and justified the use of a developmental trajectory approach. Repetitive behaviour was explored in RTS in relation to Autism Spectrum Disorder (ASD), Down and Fragile-X syndromes. Body stereotypy and repetitive questioning occurred at a similar frequency in RTS and ASD, but repetitive phrases occurred less frequently in RTS. A test battery was compiled and administered to profile the developmental trajectories of executive functions in RTS relative to typically developing children. Executive function development was delayed in RTS relative to mental age. Finally, the relationships between executive function development and repetitive behaviour were explored in RTS using correlational analyses. Repetitive questioning was related to poorer scores on verbal working memory and inhibition measures. Adherence to routines was related to poorer scores on a measure of shifting and emotional regulation, and completing behaviour was related to poorer scores on shifting measures. These findings highlight the merit of studying executive function development in disorder groups and that pathways can be mapped between cognition and behaviour. The implications of these findings for research and practice are discussed.
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BENTIVEGNA, ANGELA. "Base molecolare della sindrome di Chromatin remodelling Rubinstein-Taybi: un sistema modello per lo studio dei deficit funzionali di acetilazione istonica." Doctoral thesis, Università degli studi di Milano, 2008. http://hdl.handle.net/10281/12823.

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Rubinstein–Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the closely related CREBBP and EP300 genes, accounting respectively for up to 60 and 3% of cases. About 10% of CREBBP mutations are whole gene deletions often extending into flanking regions. Using FISH and microsatellite analyses as a first step in the CREBBP mutation screening of 63 Italian RSTS patients (pts), 6 deletions were identified, 3 of which were in a mosaic condition that has not been previously reported in RSTS. The clinical presentation was typical in all cases, but more severe in the three pts carrying constitutional deletions, raising a question about the possible underdiagnosis of a few cases of mild RSTS. The use of region-specific BAC clones and small CREBBP probes allowed to assess the extent of all of the deletions by mapping their endpoints to genomic intervals of 5–10 kb. Four of five intragenic breakpoints cluster at the 5' end of CREBBP, where there is a peak of breakpoints underlying rearrangements in RSTS pts and tumours. The search for genomic motifs did not reveal any low-copy repeats (LCRs) or any greater density of repetitive sequences. The FISH analysis extended to the EP300 genomic region did not reveal any deletions. Searching for mutations of CREBBP gene in 56 patients revealed 23 different mutations. In addition, one deletion and two amplifications were identified by a-CGH in 20 RSTS pts.
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4

Torres, Leuridan Cavalcante. "Avaliação da imunocompetência de portadores da síndrome de Rubinstein-taybi." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/42/42133/tde-01092008-192345/.

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Анотація:
A síndrome de Rubinstein-Taybi (RTS, OMIM 180849) é uma doença autossômica dominante caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, infecções respiratórias recidivantes, retardo mental e de crescimento. RTS está associada com mutação no gene CREBBP. Na avaliação da imunocompetência de 17 portadores de RTS, observaram-se algumas alterações na resposta imune inata e adaptativa: leucocitose persistente, neutrófilos com desgranulopoiese, elevada concentração sérica de IgM e IgG1, produção normal de anticorpos contra antígenos protéicos e anti-polissacarídeos, elevados valores absolutos de células B totais, B \"naive\", B de memória, subpopulação B1 e de linfócitos B com IgM de membrana, e elevado percentual de apoptose de linfócitos B. DTH negativo para três antígenos e baixa resposta linfoproliferativa para antígenos protéicos. Diante do exposto, concluímos que os pacientes RTS apresentam alterações em vários mecanismos da resposta imune e principalmente, na imunidade humoral. Portanto, com este trabalho foi possível identificar as principais alterações imunológicas destes pacientes, e com isso, caracterizar quais os defeitos da resposta imune que pode estar associada com gene CREBBP.
Rubinstein-Taybi syndrome (RTS, OMIM 180849) is a dominant Mendelian disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental retardation and growth and recurrent respiratory infections. RTS is classically associated with CREBBP gene mutations, but recently, p300 gene mutations were reported in three individuals. In imunonocompetence investigation of a group of 17 patient of the RTS, we found that the patients really show alterations in more than one arm of the immune response. The main alterations were found in: a) innate immunity, patients have defects in the distribution of the granules citoplasmatic and partial absence of F-actin filament part of its polymorphonuclear cells. In addition, some patients had decreased phagocytic activity, b) humoral immunity: elevated serum IgM antibodies and IgG1 subclass, normal production of antibodies for protein antigens and antipolysaccharide, high absolute values of B cell total, B \"naive\", B memory, subpopulation B1 and B lymphocytes with the membrane IgM, and high percentage of apoptosis of B lymphocytes; c) cellular immunity: delayed hypersensitivity skin tests negative for three antigens and low lymphoproliferative response to protein antigens. Values reduced percentage of CD45RA+ , CD45RO+ T cells and high doublepositive CD45RA+/CD45RO +) T cell. Ahead of the severe recurrent respiratory infections that affect the patients with RTS, and of the evaluation of immunocompetence of these patients, we find that they have several alterations in mechanisms of immune response and mainly in humoral immunity. Therefore, with this study was to identify the major immunological alterations of these patients, and with this, which characterize the main defects of the immune response of the patients RTS that can is associated with gene CREBBP.
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Webster, Joshua. "Caregivers of Individuals with Rubinstein-Taybi Syndrome: Perspectives, Experiences and Relationships with Healthcare Professionals." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592136452814679.

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Delboni, Thomaz Pileggi. "Investigação genético-clínica em pacientes com síndrome de Rubinstein-Taybi." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-19022010-163029/.

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INTRODUÇÃO: A Síndrome de Rubinstein-Taybi (RTS) é uma doença genética rara, caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, deficiência mental e baixa estatura. A incidência estimada é de 1: 125 000 a 1: 330000 nativivos. A SRT geralmente ocorre esporadicamente, mas pode ser herdada com um padrão de herança autossômico dominante. O diagnóstico da SRT é essencialmente clínico. OBJETIVOS: Realizar o estudo genético-clínico e citogenético em 30 pacientes brasileiros com SRT, e descrever de forma sistematizada a freqüência de dismorfismos faciais e malformações múltiplas encontradas. MÉTODOS: Neste estudo observacional retrospectivo e prospectivo, os pacientes foram seguidos no período de agosto de 2005 a junho de 2009. O cariótipo com bandeamento G foi realizado em todos os pacientes. RESULTADOS: A maioria dos pacientes avaliados foi do sexo feminino (60%). As seguintes características foram observadas em todos os pacientes da nossa casuística: atraso de desenvolvimento neuropsicomotor, ponta nasal voltada para baixo, columela proeminente, sorriso característico, dificuldades alimentares na infância, persistência dos coxins fetais, falanges distais dos polegares alargadas e pés planos. A baixa estatura e a microcefalia foi observada em 80% e 76% dos casos, respectivamente. As principais características craniofaciais observadas foram: fronte proeminente (86%), ponte nasal larga (60%), hipertelorismo (70%), sobrancelhas espessas e arqueadas (96%) cílios longos em 93%, prega epicântica (76%), fissura palpebral infra vertidas (76%), abertura bucal estreita (93%), retrognatismo (76 %), sorriso característico em 100%, palato alto e estreito (93%), anomalias dentárias (83%). Outras anomalias identificadas foram: estrabismo, erros de refração, obstrução do canal lacrimal, háluces e polegares alargados, angulação de polegares, anomalias do pavilhão auricular (rotação/posição/tamanho/forma), angulação do hálux, clinodactilia, sobreposição dos pododáctilos, falanges distais alargadas de outros dedos, marcha rígida, hipotonia, sopro cardíaco, cardiopatia congênita, criptoquidia, hemangioma plano e hipertricose. Uma paciente apresentou translocação recíproca de novo 46, XX, t (2; 16)(q36.3; p13.3). CONCLUSÕES: A raridade da SRT e o amplo espectro das manifestações clínicas pode atrasar o diagnóstico clínico. A média da idade ao diagnóstico dos nossos pacientes com SRT foi de três anos e oito meses. Todas as crianças devem receber avaliação por geneticista pediátrico, cardiologista, oftalmologista, neuropediatra, e odontopediatra
INTRODUCTION: Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by distinctive craniofacial dysmorphisms, broad thumbs and toes and mental and statural deficiency. The prevalence of RTS has been estimated to be 1 in 125000 to 1: 330000 live births. RTS usually occurs sporadically although it can be inherited as an autosomal dominant disorder. The diagnosis of RTS is primarily based on clinical features. OBJECTIVES: We performed a clinical and cytogenetic assay in a group of 30 Brazilian RTS patients. We also decribed the frequencies of facial dysmorphisms and multiple malformations. METHODS: In this observational retrospective and prospective study, the patients were followed from August 2005 to June 2009. Chromosomal analysis was performed by G-banding karyotype. RESULTS: Most of the patients were female (60%).The following abnormalities were present in all of the patients: delayed psychomotor development, beaked nose, proeminent collumel, typical facies, broad thumbs and toes, flat feet, joint laxity, feeding problems during the childhood, and finger pads. Short stature was present in 80%, and microcephalia in 76% of the cases, respectively. Main craniofacial characteristics are frontal bossing (86%), wide nasal bridge (60%), ocular hyperthelorism (70%), high arched eyebrows (96%), long eyelashes (93%), epicathal folds (76%), downslanting palpebral fissures (76%), small opening of the mouth (93%), retrognathism (76%), grimacing smile (100%), high arched palate (93%), and dental anomalies (83%). Other findings were: strabism, refractive error, lacrimal obstruction, wide thumb and halux, angulated thumbs, external ears anomalies (rotation, implantation and morfology), angulated halux, clinodactyly, crowded toes, broad distal falanges of other fingers, stiff gait, hipotonia, cardiac murmur, congenital heart defect, undescendent testis, hypertrichosis, and hemangioma. One female patient has found to have a reciprocal de novo translocation t(2;16)(q36.3;p13.3) on G-banding karyotype CONCLUSIONS: The rarity of RTS and the wide spectrum of clinical manifestations, may delay the clinical diagnosis of RTS. The average age at the diagnosis of our patients was 3 years and 8 months. All children of RTS should receive an evaluation by a pediatric geneticist, cardiologist, ophthalmologist, pediatric neurologist, and pediatric dentist
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Zamunaro, Marcelo Ricardo Tiso. ""Estudo das manifestações crânio faciais de pacientes portadores da síndrome de Rubinstein-Taybi"." Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/23/23141/tde-06062005-163912/.

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A Síndrome de Rubinstein-Taybi foi primeiramente descrita em 1963 pelos médicos Jack Rubinstein & Hooshang Taybi e está relacionada à microdeleção cromossômica na região 16p13. Suas principais características são retardo mental baixa estatura, nariz pontudo, polegares largos e angulados e problemas cardíacos. As características bucais têm sido relatadas na literatura através de casos esporádicos e incluem retrognatia, palato fendido, má-formação e apinhamento dentário. Foram estudadas as características clínicas de relevância para a odontologia, de 13 pacientes portadores da SRT que procuraram o CAPE para tratamento odontológico do período de 1998 a 2004. O manejo clínico do paciente em ambulatório foi possível na maioria dos casos apesar do comprometimento intelectual. As manifestações bucais mais frequentemente encontradas foram: gengivite e periodontite, ptose do palato mole e presença de palato ogival, malformação dos dentes incisivos laterais superiores, e alterações oclusais como retrusão mandibular e mordida cruzada posterior. Foi salientada a importância do cirurgião dentista conhecer as implicações da síndrome para que possa previní-las através de orientação aos cuidadores e intervenções precoces, especialmente no que se refere à ortodontia e periodontia.
The Rubinstein-Taybi syndrome was first report in 1963 by Jack Rubinstein and Hooshang Taybi and it’s related with the chromossomal microdelection in the region 16p13. The main characteristics are mental retardation, low stature, pointed nose, broad thumbs and toes and cardiac alterations. The buccal characteristics are reported in the literature by sporadic cases and includes retrognathia, fissured palate and dental malformation. It was studied the clinical characteristics with significance for the dentistry in 13 patients with RTS that seek treatment at the Special Care Dentristy Center during the period from 1998 to 2004. The ambulatorial clinical attendance was possible in the majority cases although the intelectual compromissing. The buccal manifestations frequently found were gingivitis and periodontitis, soft palate ptosis and ogival palate, talon cusps and oclusal alterations, like mandibular retrusion and posterior crossbite. It was accentuated the importance for the dentristry to know the implications from the syndrome to prevent them through directions for the relatives and previous interventions, especially orthodontics and periodontics.
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Vala, Thaís Mendes. "Desenvolvimento motor de uma criança com síndrome de Rubinstein Taybi - estudo de caso." Universidade Federal de São Carlos, 2015. https://repositorio.ufscar.br/handle/ufscar/8707.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
The society has been concerned to provide quality of life for people with disabilities. When it comes to people in disability situation, the role of physical education is especially relevant, since it can contribute significantly to the improvement of motor skills and physical condition, in turn, responsible for too typical behavior of human beings. In the case of Rubinstein Taybi Syndrome (SRT), the literature shows that there are numerous difficulties of a physical and motor that affect people, SRT is characterized by: - short stature; - Face feature; - Small head; - Slightly deformed ears; - Mental retardation; - Pulmonary stenosis; - Keloid formation in surgical scars; - Foramen magnum extended; - Vertebral and sternal abnormalities; - Thick or curved eyebrows; - Hyperextensible joints; - Pelvis small and inclined; - Stereotyped behavior: clap and sway the body when nervous or anxious. A person with SRT do not need all the features of the syndrome, but a combination of them. Baby stimulation and early intervention are highly recommended for the child with SRT. Appropriate stimuli engines through intervention programs may favor the acquisition of new functions, thus providing the best adaptation of environmental factors and aging to contribute to the education movement, body awareness and her own interaction with the environment. Motor development isintrinsically linked to cognitive and affective areas of human behavior. Thus, each individual is unique in its development and progress to the level that was determined by its environmental and biological conditions together with the special needs of the motor task. The study will contribute to the development of an overview of child motor development with Rubstein Taybi syndrome, and generate ideas and perspectives to other areas. Consist in a case study research exploratory, descriptive and qualitative type, with the aim of analyzing the effects of a motor stimulation program for a child with SRT; propose activities that promote motor development of the child; improve motor skills allowing higher levels of functioning in activities of daily life. A ten years old carrier of the syndrome is a participant in this study. Data collection was performed using the Motor Evaluation Kit Rosa Neto, video camera and computer. Data were organized and analyzed qualitatively and quantitatively. It appears in this study that WFP provided a decrease in risk factors imposed by motor condition Yasmin, giving it autonomy in activities of daily living and consequently improved quality of life.
A sociedade vem se preocupando em proporcionar qualidade de vida para as pessoas com deficiências. Em se tratando de pessoas em situação de deficiência, a atuação da educação física tem especial relevância, uma vez que pode contribuir sensivelmente para a melhoria das habilidades motoras e condições físicas, por sua vez, responsáveis pelas demais condutas típicas do ser humano. No caso da Síndrome de Rubinstein Taybi (SRT), a literatura mostra que são inúmeras as dificuldades de ordem física e motora que acometem as pessoas, A SRT é caracterizada por: - baixa estatura; - face característica; - cabeça pequena; - orelhas ligeiramente deformadas; - retardo mental; - estenose pulmonar; - formação de quelóide em cicatrizes cirúrgicas; - forame magno alargado; - anormalidades vertebral e esternal; - Sobrancelhas grossas ou curvadas; - Articulações hiperextensíveis; - Pelve pequena e inclinada; - Comportamento estereotipado: batem palmas ou balançam o corpo quando nervosas ou ansiosas. Uma pessoa com SRT não precisa ter todas as características da síndrome, mas uma combinação entre elas. Estimulação infantil e intervenção precoce são altamente recomendadas para a criança com SRT. Estímulos motores adequados por meio de programas de intervenção poderão favorecer a aquisição de novas funções, proporcionando assim a melhor adaptação dos fatores ambientais e de maturação para contribuir com a educação do movimento, consciência corporal e a própria interação dela com o ambiente. O desenvolvimento motor está intrinsecamente relacionado às áreas cognitivas e afetivas do comportamento humano. Assim, cada indivíduo é único em seu desenvolvimento e progredirá até o nível que foi determinado por suas condições ambientais e biológicas em conjunto com as necessidades especiais da tarefa motora. O estudo irá contribuir na elaboração de um panorama do desenvolvimento motor de crianças com Síndrome de Rubstein Taybi, além de gerar idéias e perspectivas para outras áreas. Consisti em uma pesquisa de estudo de caso do tipo exploratório, descritivo e qualitativa, com o objetivo de analisar os efeitos de um programa de estimulação motora em uma criança com SRT; propor atividades que promovam o desenvolvimento motor da criança; melhorar as habilidades motoras permitindo maiores níveis de funcionamento nas atividades da vida diária. Uma criança de 10 anos portadora da Síndrome é participante desse estudo. A coleta de dados foi feita através do Kit de Avaliação Motora de Rosa Neto, filmadora, e computador. Os dados foram organizados e analisados de forma qualitativa e quantitativa. Verifica-se nesse estudo que o PAM proporcionou um decréscimo nos fatores de riscos impostos pela condição motora de Yasmin, proporcionando a ela autonomia em atividades de vida diária e consequentemente melhora na qualidade de vida.
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Suzuki, Keli Tieko. "Investigação molecular por sequenciamento do gene CBP em portadores da síndrome de Rubinstein-Taybi." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-24052012-154642/.

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Анотація:
A Síndrome de Rubinstein-Taybi (RTSs) é uma doença rara de herança autossômica dominante, caracterizada por dismorfismos craniofaciais, polegares e háluces alargados, deficiência intelectual e de crescimento. RTSs tem sido associada com mutações no gene CREBBP (CBP) e mutações menos frequentes no gene EP300 que foram descritas em oito indivíduos. CBP e p300 possuem alta homologia e são extremamente importantes em várias vias de sinalização, principalmente como coativadores de transcrição e na acetilação das histonas. Nosso estudo baseou-se na análise de alterações moleculares por sequenciamento direto do CBP, FISH e array-CGH em 20 pacientes com RTSs. Dos 20 pacientes avaliados por sequenciamento direto foram identificadas oito alterações moleculares, dentre estas, seis são alterações moleculares novas as quais não foram descritas na literatura, são elas: i) duas deleções (p.M747fs STOP830 e p.G1011fs STOP1021) ii) duas alterações do tipo nonsense (p.Arg1341X, p.Arg1498X) iii) três do tipo missense (p.Arg1907Trp, p.Leu604Pro e p.His1291Arg). Também identificamos um polimorfismo de único nucleotídeo (SNP) (rs115594471/ c.5874CT). Dois pacientes apresentaram deleção do gene CBP em um dos alelos, identificado pelo método array-CGH. Outro, apresentou uma translocação aparentemente equilibrada t(2;16), cuja análise subsequente com FISH revelou uma quebra na região do CBP. Neste trabalho, a taxa de detecção de alteração molecular no CBP por sequenciamento direto foi de 40% (08/20). Porém, a taxa de detecção das alterações moleculares no CBP foi de 55% (11/20), considerando a combinação das diferentes técnicas utilizadas (FISH, sequenciamento direto e array-CGH). Não houve correlação genótipo-fenótipo, exceto por uma maior frequência da presença de epicanto nos pacientes com alteração no CBP. Os resultados obtidos neste trabalho servem como o diagnóstico molecular para os pacientes com RTSs atendidos no Ambulatório do Laboratório de investigação Médica 001 (ALIM 001) do Instituto da Criança - FMUSP, contribuindo para uma melhor orientação médica, como também para realização do aconselhamento genético às famílias
Rubinstein-Taybi syndrome (RTSs) is a rare autosomal dominant disease characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency. RTS has been associated with CREBBP (CBP) gene mutations and less frequently with mutations in EP300 gene, which have been reported in eight individuals. CBP and p300 have high homology and are extremely important in many signaling pathways especially as transcriptional coactivators and histone acetylation. Our study was based on the alteration analysis by direct sequencing of the CBP, by FISH and array-CGH in 20 RTSs patients. We identified eight molecular alterations in 20 RTSs patients evaluated by direct sequencing: i) two deletions (p.M747fs STOP830 and p.G1011fs STOP1021) ii) two nonsense alterations (p.Arg1341X and p.Arg1498X) iii) Three missense alteration (p.Arg1907Trp, p.Leu604Pro and p.His1291Arg). Single-nucleotide polymorphism were also identified (rs115594471 / c.5874CT), and six of these are new molecular alterations, not described in literature. Two RTSs patients studied had CBP gene deletion in one allele, identified by array-CGH method. Other patient, presented with apparent balanced translocation t(2;16) in which the subsequent analysis using FISH, showed a break in region of CBP. In this work, the rate of detection of molecular alteration in CBP by direct sequencing in RTSs patient was 40.0% (08/20). However, the rate of detection of molecular alteration in CBP was 55.0% (11/20), considering the combination of different techniques (FISH, direct sequencing and array-CGH. No significant correlation could be established in this study between the different types of mutations and genotype-phenotype of RTSs patients, except a higher frequency of the presence of epicanthus in the RTS patients with alteration in the CBP. The results of this study serve as a molecular diagnosis for RTSs patients treated at the Ambulatory of the Medical Investigation Laboratory 001 (ALIM 001) of the Instituto da Criança - FMUSP, and this contributes to better clinical management, such as making an appropriate genetic counseling for families
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Launspach, Michael [Verfasser], and Ulrich [Akademischer Betreuer] Schüller. "The role of CBP in forebrain development : a mouse-model for Rubinstein-Taybi-Syndrome / Michael Launspach ; Betreuer: Ulrich Schüller." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2019. http://d-nb.info/1208625829/34.

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Книги з теми "Syndrome de Rubinstein-Taybi"

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Convention, National Williams Association, and David W. Smith Workshop on Malformations and Morphogenesis. (9th : 1988 : Mills College), eds. Rubinstein-Taybi syndrome: Williams syndrome. New York: Wiley-Liss, 1990.

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Hennekam, R. C. M. The Rubinstein-Taybi syndrome in the Netherlands: A clinical genetic survey. Amsterdam: Thesis Publishers, 1990.

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Частини книг з теми "Syndrome de Rubinstein-Taybi"

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Hennekam, Raoul C. M. "Rubinstein-Taybi Syndrome." In Management of Genetic Syndromes, 705–15. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch47.

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Gilbert, Patricia. "Rubinstein—Taybi syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders, 258–61. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_68.

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Mundlos, Stefan, and Denise Horn. "Rubinstein–Taybi Syndrome." In Limb Malformations, 116–17. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-540-95928-1_44.

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Chen, Harold. "Rubinstein-Taybi Syndrome." In Atlas of Genetic Diagnosis and Counseling, 1–13. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_207-2.

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Bien, Christian G., Christian E. Elger, Ali R. Afzal, Sirajedin Natah, Ritva Häyrinen-Immonen, Yrjö Konttinen, George S. Zubenko, et al. "Rubinstein-Taybi Syndrome." In Encyclopedia of Molecular Mechanisms of Disease, 1875–78. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3220.

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Chen, Harold. "Rubinstein-Taybi Syndrome." In Atlas of Genetic Diagnosis and Counseling, 2499–511. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_207.

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Korzus, Edward. "Rubinstein-Taybi Syndrome and Epigenetic Alterations." In Advances in Experimental Medicine and Biology, 39–62. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-53889-1_3.

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Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania, Gen Nishimura, and Valérie Cormier-Daire. "Rubinstein-Taybi Syndrome, CREBBP- and EP300-Related." In Fetal and Perinatal Skeletal Dysplasias, 295–97. 2nd ed. Boca Raton: CRC Press, 2024. http://dx.doi.org/10.1201/9781003166948-61.

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Ohnsman, Christina M., and Miles J. Burke. "Ocular Findings in Rubinstein-Taybi Syndrome: Results of the First International Symposium." In Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada, 573–76. Boca Raton: CRC Press, 2024. https://doi.org/10.1201/9781003575207-161.

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Young, Jennifer Read, Diana Hunter, and Debbie Bayler. "Het syndroom van Rubinstein-Taybi en fysiotherapie." In Fysiotherapeutische casuïstiek, 1231–39. Houten: Bohn Stafleu van Loghum, 2006. http://dx.doi.org/10.1007/978-90-313-8645-1_195.

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Тези доповідей конференцій з теми "Syndrome de Rubinstein-Taybi"

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Hegemann, L., and B. Westhoff. "Juvenile Hüftkopfnekrose bei Patienten mit Rubinstein-Taybi-Syndrom." In Deutscher Kongress für Orthopädie und Unfallchirurgie. Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1717403.

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