Caracterização das habilidades simbólicas de crianças com síndrome de Down

Mariane Nardezi Ciciliato; Daiana Camargo Zilotti; Patrícia Pupin Mandrá

doi:10.1590/s1516-80342010000300016

Caracterização das habilidades simbólicas de crianças com síndrome de Down

Revista da Sociedade Brasileira de Fonoaudiologia ◽

10.1590/s1516-80342010000300016 ◽

2010 ◽

Vol 15 (3) ◽

pp. 408-414 ◽

Cited By ~ 3

Author(s):

Mariane Nardezi Ciciliato ◽

Daiana Camargo Zilotti ◽

Patrícia Pupin Mandrá

Keyword(s):

Gsd Ii

OBJETIVO: Caracterizar as habilidades simbólicas de um grupo de crianças com síndrome de Down. MÉTODOS: Participaram do estudo 26 crianças com idades entre 12 e 36 meses, divididas em dois grupos: grupo síndrome de Down (GSD) e grupo controle (GC) - crianças com desenvolvimento normal. Os grupos foram subdivididos de acordo com a idade: GSD I e GC I, compostos por crianças de 12 a 24 meses; GSD II e GC II, com crianças de 25 a 36 meses. Os dados foram coletados por meio da interação com a examinadora em situação lúdica, durante 30 minutos o GSD e 20 minutos o GC, de acordo com a proposta do protocolo de observação comportamental. RESULTADOS: Comparando ambos os grupos controle encontramos diferença (p<0,05) para as formas de manipulação dos objetos, para o nível de desenvolvimento do simbolismo e para o desempenho geral no protocolo. Em ambos os grupos síndrome de Down houve diferença para o nível de desenvolvimento do simbolismo. Na comparação inter-grupos de acordo com as faixas etárias encontramos diferenças quanto à forma de manipulação dos objetos, nível de desenvolvimento do simbolismo e desempenho geral no protocolo. A imitação sonora e gestual não se diferenciou significativamente nessa pesquisa. CONCLUSÃO: Os resultados confirmaram a hipótese de atraso do desenvolvimento das habilidades simbólicas para crianças com síndrome de Down. O exame da linguagem e simbolismo em contexto funcional possibilitou a confrontação das manifestações observadas neste grupo e as descritas para crianças com desenvolvimento linguístico e simbólico considerados normais, sendo o nível de desenvolvimento simbólico o melhor parâmetro de análise e acompanhamento para o grupo.

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1035. Efficacy of Gene Therapy for a Prototypical Lysosomal Storage Disease (GSD-II) Is Critically Dependent upon Vector Dose, Transgene Promoter, and the Tissues Targeted for Vector Transduction

Molecular Therapy ◽

10.1016/s1525-0016(16)43865-7 ◽

2002 ◽

Vol 5 (5) ◽

pp. S336-S337

Keyword(s):

Gene Therapy ◽

Lysosomal Storage Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Vector Transduction ◽

Gsd Ii

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Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations

BMC Musculoskeletal Disorders ◽

10.1186/1471-2474-14-s2-p9 ◽

2013 ◽

Vol 14 (S2) ◽

Author(s):

E Barca ◽

O Musumeci ◽

C Rodolico ◽

A Ciranni ◽

G Vita ◽

...

Keyword(s):

Late Onset ◽

Genetic Features ◽

Atypical Presentations ◽

Gsd Ii

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Efficacy of Gene Therapy for a Prototypical Lysosomal Storage Disease (GSD-II) Is Critically Dependent on Vector Dose, Transgene Promoter, and the Tissues Targeted for Vector Transduction

Molecular Therapy ◽

10.1006/mthe.2002.0563 ◽

2002 ◽

Vol 5 (4) ◽

pp. 436-446 ◽

Cited By ~ 48

Author(s):

Enyu Ding ◽

Huimin Hu ◽

Bradley L. Hodges ◽

Felicia Migone ◽

Delila Serra ◽

...

Keyword(s):

Gene Therapy ◽

Lysosomal Storage Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Vector Transduction ◽

Gsd Ii

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199. Glycogen Storage in Multiple Muscles of Old GSD-II Mice Can Be Rapidly Cleared after a Single, Intravenous Injection with a Modified Adenoviral Vector Expressing hGAA

Molecular Therapy ◽

10.1016/s1525-0016(16)40641-6 ◽

2003 ◽

Vol 7 (5) ◽

pp. S78

Keyword(s):

Intravenous Injection ◽

Adenoviral Vector ◽

Glycogen Storage ◽

Single Intravenous Injection ◽

Gsd Ii

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Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle

Pesquisa Veterinária Brasileira ◽

10.1590/1678-5150-pvb-5963 ◽

2018 ◽

Vol 38 (11) ◽

pp. 2052-2055

Author(s):

Anelize S. Trecenti ◽

André V. Fernandes ◽

Danilo G.A. Andrade ◽

Andreza Pimenta-Oliveira ◽

Alexandre S. Borges ◽

...

Keyword(s):

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Congenital Myasthenic Syndrome ◽

Type Ii ◽

Hair Root ◽

Brahman Cattle ◽

Myasthenic Syndrome ◽

Gsd Ii

ABSTRACT: Glycogen storage disease type II (GSD-II) and congenital myasthenic syndrome (CMS) are important autosomal recessive disorders in Brahman cattle. The objective of this study was to investigate the presence of mutations responsible for GSD II (E7, c.1057_1058delTA; and E13, c.1783C>T) and CMS (c.470del20) in purebred Brazilian Brahman cattle and in purebred Brahman bulls that were routinely used in breeding programs in Brazil. A total of 276 purebred Brahman cattle (167 females and 109 males, with ages ranging from 12-24 months) and 35 frozen semen samples taken from purebred Brahman bulls (22 bulls from the USA, 11 Brazilian bulls, one Argentine bull and one Australian bull) were used in this study. Genomic DNA was purified from hair root samples and from semen samples. Purified DNA was used in PCR genotyping to mutations c.1057_1058delTA (E7) and c.1783C>T (E13) in the GAA gene and c.470del20 in the CHRNE gene. The PCR products were purified and sequenced. The genotypic frequencies per polymorphism were estimated separately. Of the 276 Brahman cattle tested, 7.3% were identified as heterozygous for E7. All Brahman cattle studied were homozygous for the wild-type E13 allele. The E7 mutations was identified as heterozygous in 8.6% (3/35) of the commercial semen samples, whereas the E13 mutations was not identified. The c.470del20 mutation was identified as heterozygous in 0.73% of the hair root samples, but this mutation was not present in any semen sample assessed. No study had previously evaluated the prevalence of mutations responsible for GSD II or CMS in Brazilian Brahman cattle. In summary, the E7 and c.470del20 mutations are present in the Brazilian Brahman herd, and control measures should be adopted to prevent an increase in the incidence of GSD-II and CMS in Brahman cattle in Brazil.

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Gene therapy for glycogen storage diseases

Human Molecular Genetics ◽

10.1093/hmg/ddz133 ◽

2019 ◽

Vol 28 (R1) ◽

pp. R31-R41 ◽

Cited By ~ 4

Author(s):

Priya S Kishnani ◽

Baodong Sun ◽

Dwight D Koeberl

Keyword(s):

Gene Therapy ◽

Striated Muscle ◽

Glycogen Storage ◽

The Body ◽

Muscle Disease ◽

Storage Diseases ◽

Glycogen Storage Diseases ◽

Liver And Kidney ◽

Early Phase Clinical Trials ◽

Gsd Ii

AbstractThe focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease. The lack of specific therapy for the GSDs has driven efforts to develop new therapies for these conditions. Gene therapy needs to replace deficient enzymes in target tissues, which has guided the planning of gene therapy experiments. Gene therapy with adeno-associated virus (AAV) vectors has demonstrated appropriate tropism for target tissues, including the liver, heart and skeletal muscle in animal models for GSD. AAV vectors transduced liver and kidney in GSD Ia and striated muscle in GSD II mice to replace the deficient enzyme in each disease. Gene therapy has been advanced to early phase clinical trials for the replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease). Other GSDs have been treated in proof-of-concept studies, including GSD III, IV and V. The future of gene therapy appears promising for the GSDs, promising to provide more efficacious therapy for these disorders in the foreseeable future.

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