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Anorexia nervosa e retardo mental; Anorexia nervosa and mental retardation

KACHANI, Adriana Trejger; CORDÁS, Táki Athanássios
Fonte: Instituto de Psiquiatria da Universidade Federal do Rio de Janeiro Publicador: Instituto de Psiquiatria da Universidade Federal do Rio de Janeiro
Tipo: Artigo de Revista Científica
POR
Relevância na Pesquisa
66.57%
OBJETIVO: Revisar a literatura pertinente, observando a prevalência, etiopatogenia, aspectos nutricionais, diagnóstico e tratamento da anorexia nervosa (AN) em pacientes com retardo mental (RM). MÉTODO: Revisão bibliográfica realizada nos sistemas Medline, SciELO e PubMed usando os descritores "transtornos alimentares", "anorexia nervosa" e "retardo mental". RESULTADOS: A AN pode se manifestar de formas atípicas em indivíduos com RM, exigindo critérios diagnósticos específicos. O mais utilizado atualmente é o Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation, conhecido por DC-LC. A prevalência é incerta e o tratamento ainda não está estabelecido, apesar de exigir treinamento específico da equipe. A alimentação costuma ser "pobre" e alimentos que engordam normalmente são evitados. Na maioria das vezes, é difícil acessar a complexa psicopatologia da AN nesses pacientes, em virtude das dificuldades de obter o relato de insatisfação e/ou distorção da imagem corporal, baixa autoestima e crenças alimentares. CONCLUSÃO: Muitos fatores indicam a necessidade de maiores estudos de AN no RM, entre eles a falta de critérios diagnósticos próprios validados e diretrizes para tratamento. Paralelamente...

Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation

LUGTENBERG, Darien; ZANGRANDE-VIEIRA, Luiz; KIRCHHOFF, Maria; WHIBLEY, Annabel C.; OUDAKKER, Astrid R.; KJAERGAARD, Susanne; VIANNA-MORGANTE, Angela M.; KLEEFSTRA, Tjitske; RUITER, Mariken; JEHEE, Fernanda S.; ULLMANN, Reinhard; SCHWARTZ, Charles E.; STRA
Fonte: WILEY-LISS Publicador: WILEY-LISS
Tipo: Artigo de Revista Científica
ENG
Relevância na Pesquisa
66.56%
ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. (C) 2010 Wiley-Liss, Inc.; EU[QLG3-CT-2002-01810]; EU; NIHR; U.K. National Institute for Health Research (NIHR); Wellcome Trust; Wellcome Trust (IGOLD); Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); FAPESP; CNPq; Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Mutação no gene ACSL4 (acyl-CoA synthetase long-chain family member 4) como causa de deficiência mental de herança ligada ao X; Mutation in the ACSL4 (acyl-CoA synthetase long-chain family member 4) as the cause of X linked mental retardation

Reis, Sarita Badiglian Ascenço
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 30/09/2009 PT
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66.57%
Estudamos uma família com cinco homens (dois falecidos) afetados por deficiência mental (DM) não-sindrômica em duas gerações, num padrão de herança ligada ao cromossomo X. A análise do padrão de inativação do cromossomo X, com base na metilação do gene AR, evidenciou que a mulher portadora obrigatória tinha desvio completo de inativação nos leucócitos, uma característica freqüente em portadoras de mutações do cromossomo X relacionadas com DM. Para o mapeamento da DM, genotipamos 28 locos de microssatélites ao longo do cromossomo X e delimitamos um segmento de cerca de 32 Mb, entre os marcadores DXS986 e DXS8067, compartilhado pelos afetados e pela portadora obrigatória, mas não pelo homem normal ou pelas possíveis portadoras que não tinham desvio do padrão de inativação do cromossomo X. Na busca do gene mutado, analisamos, por seqüenciamento direto, genes mapeados no intervalo compartilhado e já relacionados a DM ou que tivessem expressão em cérebro e leucócitos. Nos afetados e na portadora obrigatória, encontramos a mutação c.845C→T no gene ACSL4, que resulta na substituição do aminoácido histidina, conservado na família de sintetases de acil-CoA humanas e em diversos outros organismos...

O cromossomo X e a deficiência mental no sexo masculino; The X chromossome and mental retardation on males

Coqueti, Karen Nogueira
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 20/06/2011 PT
Relevância na Pesquisa
66.63%
Este trabalho teve o objetivo de estimar a frequência de deficiência mental causada por mutações no cromossomo X entre pacientes do sexo masculino, que constituem casos isolados de deficiência mental. A estratégia adotada foi a determinação do padrão de inativação do cromossomo X nas mães dos afetados, com base (a) nas indicações de que desvios extremos do padrão casual de inativação do cromossomo X têm alta probabilidade de estar relacionados à presença de mutações do cromossomo X e (b) na observação de que a frequência desses desvios está significantemente aumentada em mulheres certamente portadoras de mutações que causam deficiência mental de herança ligada ao X. A vantagem seletiva das células que possuem o alelo não mutado no cromossomo X ativo é uma explicação para tais desvios extremos da inativação do cromossomo X, raramente encontrados na população geral. Selecionamos 115 meninos portadores de deficiência mental moderada a grave associada a outros sinais clínicos, não característicos de síndrome conhecida e que tinham cariótipos normais e teste negativo para a síndrome do cromossomo X frágil; suas genitoras concordaram com a participação no estudo. Esses pacientes foram encaminhados ao Serviço de Aconselhamento Genético do Laboratório de Genética Humana...

Avaliação da eficácia e tolerabilidade da risperidona e do metilfenidato na redução de sintomas do transtorno de déficit de atenção/hiperatividade em crianças e adolescentes com retardo mental moderado; Risperidone and Methylphenidate in Reducing Attention Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Moderate Mental Retardation

Correia Filho, Alceu Gomes
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Dissertação Formato: application/pdf
POR
Relevância na Pesquisa
66.52%
O artigo apresenta um ensaio clínico cujo objetivo foi avaliar a eficácia e tolerabilidade, a curto prazo, da Risperidona e do Metilfenidato na redução de sintomas do Transtorno de Déficit de Atenção/Hiperatividade (TDAH) em crianças e adolescentes com Retardo Mental Moderado (RMM) que preencheram os critérios do DSM-IV para TDAH. Foram acompanhados, durante 4 semanas, 46 pacientes com diagnóstico de RMM e TDAH que receberam metilfenidato ou risperidona. As medidas de eficácia foram avaliadas através da aplicação das escalas “Swanson, Nolan, and Pelham” – SNAP-IV e do Formulário Nisonger Para Avaliação do Comportamento da Criança. Os efeitos colaterais das medicações foram detectados através da aplicação das escalas “Barkley’s Side-Effects Rating Scale” (SERS) e da “Ugvald for Kliniske Undersgelser”(UKU). Não foram detectadas diferenças significativas entre os dois grupos no final do ensaio (todos os TE ≤ 0.27). Ocorreu uma significativa redução de peso nos pacientes do grupo do metilfenidato e um significativo ganho de peso nos pacientes do grupo da risperidona. Nossos achados preliminares sugerem que tanto a risperidona como o metilfenidato podem ser eficazes na redução de sintomas do TDAH nestes pacientes com Retardo Mental Moderado. O perfil dos efeitos colaterais pode ser importante na decisão da medicação a ser escolhida.; The article describes a clinical trial. The objective was to evaluate the short-term efficacy and tolerability of risperidone and methylphenidate (MPH) in reducing symptoms related to attention-deficit/hyperactivity disorder (ADHD) in children and adolescents with Moderate Mental Retardation (MMR) who fulfilled DSM-IV criteria for ADHD. In a 4-week...

Estimated mental retardation and school dropout in a sample of students from state public schools in Porto Alegre, Brazil; Retardo mental estimado e evasão escolar em uma amostra de estudantes da rede estadual de Porto Alegre

Tramontina, Silzá; Martins, Silvia de Oliveira; Michalowski, Mariana Bohns; Souza, Carla Ruffoni Ketzer de; Eizirik, Mariana; Biederman, Joseph; Rohde, Luis Augusto Paim
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Artigo de Revista Científica Formato: application/pdf
ENG
Relevância na Pesquisa
66.45%
Objetivos: Avaliar a associação entre retardo mental estimado (RM) e evasão escolar numa amostra de escolares de terceira e quarta séries da rede estadual de Porto Alegre. Método: Neste estudo caso-controle, estudantes que evadiram da escola (n=44) e um grupo controle que se mantinha na escola (n=44) tiveram o seu quociente de inteligência (QI) determinado através dos sub-testes vocabulário e cubos da Escala de Inteligência de Wescheler – terceira edição (WISC–III). Estudantes com QI<70 foram considerados potenciais casos de RM. Outros transtornos mentais prevalentes nesta faixa etária foram avaliados nos dois grupos por meio da aplicação da Entrevista para Transtornos Afetivos e Esquizofrenia na Idade Escolar- Versão Epidemiológica, 4ª versão em português (K-SADS-E). Resultados: O grupo de evadidos apresentou um número significativamente maior de indivíduos com provável RM do que o grupo controle (p<0,001). A razão de chances para evasão escolar manteve-se significativamente maior para os indivíduos com RM estimado, mesmo após ajuste para potenciais variáveis confundidoras (idade, transtorno de conduta, repetência escolar, renda e estrutura familiar) (p<0,01). Conclusão: Crianças com menor capacidade de inteligência representam um grupo de risco para evasão escolar...

Toxoplasmosis and mental retardation: report of a case-control study

Caiaffa,Waleska T.; Chiari,Clea A.; Figueiredo,Ana R. P.; Orefice,Fernando; Antunes,Carlos M. F.
Fonte: Instituto Oswaldo Cruz, Ministério da Saúde Publicador: Instituto Oswaldo Cruz, Ministério da Saúde
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/1993 EN
Relevância na Pesquisa
66.63%
A case-control study evaluating the association between mental retardation and toxoplasmosis was conducted among 845 school children in Belo Horizonte, MG, Brazil. Cases (450) were mentally retarded children attending a public school for special education. Controls (395) were children from the regular public school system. Clinical and anthropometric examinations and interviews were carried out to determine risk factors for toxoplasmosis and mental retardation. Diagnosis of Toxoplasma gondii infection was based upon an indirect immunofluorescent test (IFA); 55% of cases and 29% of controls were positive. The Relative Odds of mental retardation in children with positive serology was 3.0 (95% CI 2.2-4.0). Maternal exposure to cats and contact with soil were associated with an increased risk of mental retardation. Retinochoroiditis was fourfold more prevalent among cases than controls and was only diagnosed in T. gondii IFA positive participants. Congenital toxoplasmosis, in its subclinical form, appears to be an important component in the etiology of mental retardation, especially in high risk (lower socio-economic) groups. The population attributable risk was estimated as 6.0 - 9.0%, suggesting the amount of mental retardation associated with this infection.

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies

Baker, E.; Hinton, L.; Callen, D.; Altree, M.; Dobbie, A.; Eyre, H.; Sutherland, G.; Thompson, E.; Thompson, P.; Woollatt, E.; Haan, E.
Fonte: Wiley-Liss Publicador: Wiley-Liss
Tipo: Artigo de Revista Científica
Publicado em //2002 EN
Relevância na Pesquisa
66.51%
Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dysmorphic features and/or malformations in the absence of a recognizable syndrome (197). All had normal karyotypes at the 550-850 band level. Subtelomeric anomalies were found in 1/53 of the first group (1.9%) and 8/197 of the second group (4.1%). In one patient, two separate anomalies were present: a deletion (not inherited) and a duplication (inherited). It is possible that one of these 10 observed aberrations might represent a rare and previously unreported polymorphism and one a rare cross-hybridization. Our study supports the proposition that cryptic subtelomeric rearrangements are a significant cause of idiopathic mental retardation/developmental delay, but both the diversity of the phenotypes of the positive cases and the wide diversity of their associated chromosome abnormalities emphasize the central problem for the clinical cytogenetics laboratory-that of choosing the most productive patient base for this useful diagnostic test.; Elizabeth Baker...

Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27

Lower, K.; Gecz, J.
Fonte: Wiley-Liss Publicador: Wiley-Liss
Tipo: Artigo de Revista Científica
Publicado em //2001 EN
Relevância na Pesquisa
66.51%
Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromic X-linked mental retardation that has been mapped by linkage to Xq26-q27. A nonsyndromic mental retardation family, MRX27, has also been localized to a region of the X chromosome overlapping Xq26-q27. The gene for ARHGEF6 (also known as alphaPIX or Cool-2), a newly identified guanine nucleotide exchange factor, was identified as a potential candidate XLMR gene, due to its location within the BFLS and MRX27 critical regions and its function in the regulation of PAK3 (a known MRX gene). The full coding sequence and genomic structure of the gene for ARHGEF6 was established in silico, based on available genomic, EST, and cDNA sequence information. Mutation analysis in BFLS- and MRX27-affected individuals was carried out. No mutations were found in two BFLS families or MRX27. Although ARHGEF6 is unlikely to be the gene responsible for either BFLS or MRX27, it remains a prime candidate for nonspecific or syndromic mental retardation linked to Xq26.

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
Fonte: Blackwell Munksgaard Publicador: Blackwell Munksgaard
Tipo: Artigo de Revista Científica
Publicado em //2004 EN
Relevância na Pesquisa
66.51%
Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Lossi, A.M.; Laugier-Anfossi, F.; Depetris, D.; Gecz, J.; Gedeon, A.; Kooy, F.; Schwartz, C.; Mattei, M.G.; Croquette, M.F.; Villard, L.
Fonte: British Med Journal Publ Group Publicador: British Med Journal Publ Group
Tipo: Artigo de Revista Científica
Publicado em //2002 EN
Relevância na Pesquisa
66.51%
Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a balanced translocation involving chromosomes X and 21, t(X;21)(p11.2;q22.3). Physical mapping of the translocation breakpoint on the human X chromosome was performed using fluorescence in situ hybridisation. We have mapped the X chromosome breakpoint to a 21 kb DNA fragment upstream of the first exon of the KLF8 (ZNF741) gene in Xp11.21. We have subsequently shown that the KLF8 transcript is no longer detected in cells from the patient, although KLF8 expression is otherwise normally present in control lymphoblasts. Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene.; A-M Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M-G Mattei, M-F Croquette, L Villard; Copyright © 2002 by the BMJ Publishing Group Ltd.

Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat

Santos-Reboucas, C.; Abdalla, C.; Fullston, T.; Campos Jr, M.; Pimentel, M.; Gecz, J.
Fonte: Elsevier Sci Ireland Ltd Publicador: Elsevier Sci Ireland Ltd
Tipo: Artigo de Revista Científica
Publicado em //2006 EN
Relevância na Pesquisa
66.51%
FRAXE fragile site associated mental retardation (FRAXE MR) belongs to a group of non-syndromic X-linked mental retardation. Two genes, FMR2 and FMR3 (likely a non-coding RNA) are transcribed from the FRAXE CpG island in the opposite directions. While the contribution of the FMR2 gene to FRAXE MR has been demonstrated, the role of the FMR3 gene is not known. We have screened 441 Brazilian mentally handicapped males for CCG repeat expansions in the FMR2 gene and identified a boy with a mutation (c.-414_-357del58) immediately distal to the FRAXE CCG repeat. We have established a skin fibroblast cell line from this patient and tested expression of both FMR2 and FMR3 genes. Reverse transcriptase PCR studies on the FMR2 and FMR3 genes showed that only the FMR3 gene transcription was abolished, suggesting a possible causal relationship between the lack of FMR3 expression and mental retardation in this patient. In the literature, there have been few deletions described near the FRAXE CCG repeat, but none was followed with expression studies. This is the first study showing missing expression in the FMR3 gene with normal FMR2 transcription leading to FRAXE mutation-likely phenotype. The FMR3 gene is likely a non-coding RNA gene. So far all individuals with FRAXE CCG repeat expansions and cytogenetically detectable FRAXE fragile site have both FMR2 and FMR3 gene expression abolished. Although the function of the FMR3 gene is not known...

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function

Darnell, J.; Jensen, K.; Jin, P.; Brown, V.; Warren, S.; Darnell, R.
Fonte: Cell Press Publicador: Cell Press
Tipo: Artigo de Revista Científica
Publicado em //2001 EN
Relevância na Pesquisa
66.51%
Loss of fragile X mental retardation protein (FMRP) function causes the fragile X mental retardation syndrome. FMRP harbors three RNA binding domains, associates with polysomes, and is thought to regulate mRNA translation and/or localization, but the RNAs to which it binds are unknown. We have used RNA selection to demonstrate that the FMRP RGG box binds intramolecular G quartets. This data allowed us to identify mRNAs encoding proteins involved in synaptic or developmental neurobiology that harbor FMRP binding elements. The majority of these mRNAs have an altered polysome association in fragile X patient cells. These data demonstrate that G quartets serve as physiologically relevant targets for FMRP and identify mRNAs whose dysregulation may underlie human mental retardation.; Jennifer C. Darnell, Kirk B. Jensen, Peng Jin, Victoria Brown, Stephen T. Warren and Robert B. Darnell

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.;
Fonte: Univ Chicago Press Publicador: Univ Chicago Press
Tipo: Artigo de Revista Científica
Publicado em //2008 EN
Relevância na Pesquisa
66.51%
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.; Gregor D. Gilfillan...Jozef Gecz... et al.; Copyright © 2008 The American Society of Human Genetics

Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation

Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.; Oudakker, A.; Kjaergaard, S.; Vianna-Morgante, A.; Kleefstra, T.; Ruiter, M.; Jehee, F.; Ullmann, R.; Schwartz, C.; Stratton, M.; Raymond, F.; Veltman, J.; Vrijenhoek, T.; Pfundt, R.; Schuu
Fonte: Wiley-Liss Publicador: Wiley-Liss
Tipo: Artigo de Revista Científica
Publicado em //2010 EN
Relevância na Pesquisa
66.56%
ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation.; Dorien Lugtenberg... Jozef Gècz... et al.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus

Raymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
Fonte: Univ Chicago Press Publicador: Univ Chicago Press
Tipo: Artigo de Revista Científica
Publicado em //2007 EN
Relevância na Pesquisa
66.56%
We have identified one frameshift mutation, one splice-site mutation, and two missense mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation (XLMR). In three of the families, the mental retardation phenotype is associated with a Marfanoid habitus, although none of the affected individuals meets the Ghent criteria for Marfan syndrome. ZDHHC9 is a palmitoyltransferase that catalyzes the posttranslational modification of NRAS and HRAS. The degree of palmitoylation determines the temporal and spatial location of these proteins in the plasma membrane and Golgi complex. The finding of mutations in ZDHHC9 suggests that alterations in the concentrations and cellular distribution of target proteins are sufficient to cause disease. This is the first XLMR gene to be reported that encodes a posttranslational modification enzyme, palmitoyltransferase. Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes.; F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens...

The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

Gecz, J.
Fonte: Blackwell Publishing Ltd Publicador: Blackwell Publishing Ltd
Tipo: Artigo de Revista Científica
Publicado em //2000 EN
Relevância na Pesquisa
66.63%
FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50< IQ< 85). It is the most prevalent form of non-specific X-linked mental retardation so far delineated, with an estimated incidence of at least 1/50-100,000 males, and with more than 50 families known worldwide. The FRAXE site is within, or immediately adjacent to, the 5' untranslated region of the FMR2 gene. Hyperexpansion of the FRAXE CCG repeat silences transcription of the gene. The structure of FMR2 has been characterized, but its function remains unknown. Gene localizations for numerous (> 75) large families with non-specific X-linked mental retardation (MRX) have been determined so far. Recently the molecular basis for some of them has been unravelled by identification of the responsible genes, which participate in complex common signalling pathways. This review summarises the new data on FRAXE associated mental retardation and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of non-specific X-linked mental retardation.

Estudio preliminar del retardo mental en la población de Rovira (Tolima, Colombia); Preliminary Study of Mental Retardation in Rovira (Tolima, Colombia)

Celis, Luis Gustavo; Moreno, Adriana; Trujillo, Lina Marcela; Cubides-Gutiérrez, Lygna Margareth; Ossa, Humberto; Blackburn, Natalia; Villarreal, Paula; Bermúdez, Martha; Briceño Balcázar, Ignacio
Fonte: Universidade do Rosário Publicador: Universidade do Rosário
Tipo: Artigo de Revista Científica Formato: application/pdf
Publicado em 18/05/2010 SPA
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El retardo mental se caracteriza por limitaciones en el desempeño como resultado de significativas deficiencias de la inteligencia y la conducta adaptativa. En Colombia, la mayor parte de los pacientes con esta alteración no reciben evaluación genética. El objetivo de este trabajo es evaluar y caracterizar el retardo mental en un grupo de personas con esta condición en la población de Rovira (Tolima, Colombia) e identificar los posibles factores asociados. La metodología consistió en realizar un diagnóstico clínico preliminar de 25 pacientes con retardo mental y realizar la correspondiente toma de muestras de sangre y orina para efectuar los exámenes correspondientes. Se realizaron estudios bioquímicos (cloruro férrico, nitrosonaftol, nitroprusiato de sodio, Benedict, cromatografía para la detección de aminoácidos y carbohidratos) y citogenéticos (bandeo G). Para la detección de plaguicidas, se realizó un muestreo aleatorio en diferentes puntos de todo el recorrido del sistema de distribución de agua y ciertos lugares del centro del municipio de Rovira. Con este fin, se recolectaron 20 muestras de agua y 20 muestras de tomate, elegidas al azar, de los diferentes sitios de distribución y cultivos de la hortaliza. Se identificó una familia de tres hijos afectados (dos mujeres y un hombre) con retardo mental...

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Madrigal, I.; Rodríguez-Revenga, L.; Sánchez, Ana; Martínez, Francisco; Fernández Carvajal, Mª Isabel; Arranz, J. A.; Tejada, María Isabel; Pérez-Jurado, L. A.; Estivill, Xavier; Milà, Montserrat
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artículo Formato: 410143 bytes; 37047 bytes; 36352 bytes; 28672 bytes; application/pdf; image/jpeg; application/msword; application/msword
ENG
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Contiene 3 ficheros adicionales con información suplementaria.-- et al.; [Background] Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects.; [Results] Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%).; [Conclusion] This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.; The authors thank the "Genoma España" and Genome Canada joint R+D+I projects in human health...

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

Santos,Maria do Carmo
Fonte: Centro Hospitalar do Porto Publicador: Centro Hospitalar do Porto
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2012 PT
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Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders...