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Search Results: 1 - 10 of 62807 matches for " Greyce Kelly da;Lam?nica "
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Desempenho de crian?as com fenilcetonúria no Teste de Screening de Desenvolvimento Denver - II
Silva, Greyce Kelly da;Lamnica, Dionísia Aparecida Cusin;
Pró-Fono Revista de Atualiza??o Científica , 2010, DOI: 10.1590/S0104-56872010000300031
Abstract: background: phenylketonuria is an autosomal recessive disorder resulting from the mutation of a gene located in chromosome 12q22-24.1. aim: to describe the performance of children with classic phenylketonuria, who were diagnosed and treated early, in the development screening test denver - ii. method: participants were 20 children with phenylketonuria, ranging in age from 3 and 6 years, and 10 children with typical language development, paired by gender, age and socioeconomic level to the research group. the plasmatic phenylalanine measure and the neurological, psychological and social information were gathered in the data base of the neonatal screening programs for metabolic disorder. assessment consisted on the application of the development screening test denver ii. a descriptive statistical analysis and the mann whitney test were used in order to characterize the tested skills. for the measurements of the plasmatic phenylalanine blood levels the values considered for analysis were: below 2mg/dl, above 4mg/dl, reference values between 2 and 4mg/dl, of all exams performed during the participants'lives; maximum and minimum values and values obtained on the day of the screening application. results: comparison between the groups indicated statistically significant differences for the personal-social and language areas. conclusion:children who were diagnosed and treated early for phenylketonuria present deficits in the personal-social and language areas. also, even when receiving follow-up and undergoing treatment, these children presented difficulties in maintaining normal plasmatic phenylalanine levels.
Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis Clinical, cognitive, behavioral and communicative features of Smith-Magenis syndrome
Dionísia Aparecida Cusin Lamnica,Greyce Kelly da Silva,Renata Heloísa Furlan,Dagma Venturini Marques Abramides
Revista CEFAC , 2012,
Abstract: TEMA: o objetivo deste estudo foi descrever os aspectos clínico, comportamental, cognitivo e comunicativo de indivíduos com o diagnóstico genético da Síndrome Smith-Magenis. PROCEDIMENTOS: participaram dois indivíduos do sexo masculino, de nove e 19 anos. Realizou-se a avalia o genética clínica e laboratorial (teste FISH, utilizando sonda para regi o 17p11.2). A avalia o psicológica constou da observa o comportamental e aplica o da Escala Wechsler de Inteligência. A avalia o Fonoaudiológica foi realizada por meio de procedimentos formais e informais e avalia o auditiva periférica. RESULTADOS: a análise genética clínica evidenciou as características fenotípicas da síndrome Smith-Magenis, confirmada pela avalia o laboratorial. A avalia o psicológica evidenciou o fenótipo comportamental peculiar da síndrome Smith-Magenis e comprovou a deficiência intelectual de grau moderado nos dois indivíduos. A avalia o fonoaudiológica mostrou altera es no desempenho linguístico, com altera es nos níveis fonológico, semantico, sintático e pragmático e nas habilidades psicolinguísticas, interferindo nas habilidades comunicativas e de aprendizagem. A avalia o auditiva indicou audi o periférica dentro de parametros de normalidade. CONCLUS O: a avalia o multidisciplinar favoreceu a descri o dos aspectos clínicos, comportamentais, cognitivos que pertencem ao fenótipo comportamental da síndrome Smith-Magenis e permitiu verificar que estes apresentam graves altera es da linguagem oral, das habilidades psicolinguísticas e do processamento das informa es visuais e auditivas com reflexos marcantes no desenvolvimento das habilidades comunicativas e processos de aprendizagem. BACKGROUND: this study aimed to describe the clinical, behavioral, cognitive and communicative features of subjects with Smith-Magenis Syndrome genetic diagnosis. PROCEDURES: the subjects were two males, 09 and 19 year old. We performed a clinical and laboratory genetic evaluation (FISH assay using probes for the region 17p11.2). The psychological evaluation consisted of behavioral observation and application of the Wechsler Intelligence Scale. Speech evaluation was performed by means of formal and informal procedures and peripheral hearing evaluation. RESULTS: the clinical genetic analysis showed the phenotypic characteristics of Smith-Magenis syndrome, confirmed by laboratory evaluation. The psychological evaluation revealed the peculiar phenotype behavioral of Smith-Magenis syndrome and confirmed the moderate intellectual disabilities in two subjects. Speech evaluation showed changes in lan
Desenvolvimento infantil na fenilcetonúria: atua o fonoaudiológica Infantile development in phenilketonuria: speech and language pathology action
Dionísia Aparecida Cusin Lamnica,Mariana Germano Gej?o,Amanda Tragueta Ferreira,Greyce Kelly da Silva
Revista CEFAC , 2010,
Abstract: TEMA: a fenilcetonúria é manifestada por deficiência parcial ou total da enzima hepática fenilalanina hidroxilase que, em excesso, tem efeito tóxico para as fun es do sistema nervoso central, refletindo no desenvolvimento global do indivíduo. OBJETIVO: apresentar as altera es no desenvolvimento verificadas em estudos científicos com indivíduos portadores de fenilcetonúria e refletir sobre as habilidades relacionadas ao desenvolvimento da linguagem. CONCLUS O: indivíduos com fenilcetonúria s o de risco para altera es nas fun es cognitivas, linguísticas, motoras e comportamental-social. Déficits nas fun es executivas e habilidades neuropsicolinguísticas s o comuns e acarretam defasagens para o desenvolvimento das habilidades de linguagem. Os achados justificam o encaminhamento de proposta para o Ministério da Saúde com vistas à contrata o de Fonoaudiólogos nos Programas de Triagem Neonatal credenciados. BACKGROUND: phenylketonuria is manifested by partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase that, in excess, has a toxic effect on the central nervous system functions, reflecting in the individual's global development. PURPOSE: to submit the alterations in the development verified in scientific studies with individuals with phenylketonuria, and to contemplate the abilities related to language development. CONCLUSION: individuals with phenylketonuria are risky for alterations in the cognitive, linguistics, motor and social-behavior functions. Deficits in the executive functions and neuropsychological abilities are common and imply in discrepancies as for language abilities development. The findings justify the proposal forwarding to the Ministry of Health with views to contracting a Speech and Language Pathologist in the accredited Neonatal Screening Programs.
Desenvolvimento infantil na fenilcetonúria: atua??o fonoaudiológica
Lamnica, Dionísia Aparecida Cusin;Gej?o, Mariana Germano;Ferreira, Amanda Tragueta;Silva, Greyce Kelly da;Anastácio-Pessan, Fernanda da Luz;
Revista CEFAC , 2010, DOI: 10.1590/S1516-18462009005000055
Abstract: background: phenylketonuria is manifested by partial or total deficiency of the hepatic enzyme phenylalanine hydroxylase that, in excess, has a toxic effect on the central nervous system functions, reflecting in the individual's global development. purpose: to submit the alterations in the development verified in scientific studies with individuals with phenylketonuria, and to contemplate the abilities related to language development. conclusion: individuals with phenylketonuria are risky for alterations in the cognitive, linguistics, motor and social-behavior functions. deficits in the executive functions and neuropsychological abilities are common and imply in discrepancies as for language abilities development. the findings justify the proposal forwarding to the ministry of health with views to contracting a speech and language pathologist in the accredited neonatal screening programs.
Habilidades psicolinguísticas e escolares em crian?as com mielomeningocele
Lamnica, Dionísia Aparecida Cusin;Maximino, Luciana Paula;Silva, Greyce Kelly da;Yacubian-Fernandes, Adriano;Crenitte, Patrícia Abreu Pinheiro;
Jornal da Sociedade Brasileira de Fonoaudiologia , 2011, DOI: 10.1590/S2179-64912011000400007
Abstract: purpose: to describe the performance of individuals with myelomeningocele regarding psycholinguistic and scholastic abilities. methods: participants were five individuals with myelomeningocele and lumbar sacral abnormalities, and chronological age between 9 years and 10 months and 11 years and 7 months (group 1 - g1); five subjects with typical development (group 2 - g2), matched to g1 for age, gender, and educational level. the evaluation consisted of interview with parents/caregivers, and application of the following tests: illinois test of psycholinguistic abilities (itpa); school performance test; speed reading test; and rapid automatized naming test. results: the between-groups comparison in the itpa subtests showed that the maximum values obtained by g1 corresponded approximately to the minimum values obtained by g2, confirming the difference between the groups, except for the auditory closure subtest. in the scholastic performance test, significant alterations were observed on the performance of g1 in all tasks. in the speed reading and rapid automatized naming tests, individuals in g1 also presented considerable deficits, making more mistakes and spending more time than g2 to perform the same tasks. conclusion: individuals with myelomeningocele present deficits in psycholinguistic abilities, school performance, reading speed, and rapid automatized naming.
Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism
Gej?o, Mariana Germano;Ferreira, Amanda Tragueta;Silva, Greyce Kelly;Anastácio-Pessan, Fernanda da Luz;Lamnica, Dionísia Aparecida Cusin;
Journal of Applied Oral Science , 2009, DOI: 10.1590/S1678-77572009000700012
Abstract: the neonatal screening for inborn errors of metabolism of the association of parents and friends of special needs individuals (apae) - bauru, brazil, was implanted and accredited by the brazilian ministry of health in 1998. it covers about 286 cities of the bauru region and 420 collection spots. their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (ch) and phenylketonuria (pku), among others. in 2005, a partnership was established with the department of speech-language pathology and audiology, bauru school of dentistry, university of s?o paulo, bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with ch and pku. objective: the aim of this study was to describe communicative and psycholinguistic abilities in children with ch and pku. materials and methods: sixty-eight children (25 children aged 1 to 120 months with pku and 43 children aged 1 to 60 months with ch) participated in the study. the handbooks were analyzed and different instruments were applied (observation of communication behavior, early language milestone scale, peabody picture vocabulary test, gesell & amatruda's behavioral development scale, portage operation inventory, language development evaluation scale, denver developmental screening test, abfw child language test-phonology and illinois test of psycholinguistic abilities), according to the children's age group and developmental level. results: it was observed that the children with pku and ch at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. alterations in the psycholinguistic abilities were also found, mainly after the preschool age. attention deficits, language and cognitive alterations were more often observed in children with ch, while attention deficits with hyperactivity and alterations in the personal-social,
Desordens do espectro alcoólico fetal e habilidades de comunica??o: relato de caso familiar
Lamnica, Dionísia Aparecida Cusin;Gej?o, Mariana Germano;Aguiar, Sushila Ninfa Rodrigues;Silva, Greyce Kelly da;Lopes, Andréa Cintra;Richieri-Costa, Ant?nio;
Revista da Sociedade Brasileira de Fonoaudiologia , 2010, DOI: 10.1590/S1516-80342010000100021
Abstract: the present study had the aim to characterize the communicative abilities profile of five siblings with fetal alcohol spectrum disorders. this diagnosis was carried out based on the positive report of prenatal alcohol exposure and identification of clinical signs. the speech-language pathology evaluation consisted of the communicative behavior observation, the behavioral development scale of gesell and amatruda, the peabody picture vocabulary test, and hearing evaluation. participants presented various degrees of alterations in gross motor, fine motor, adaptative, personal-social and language behaviors. the communicative abilities were altered for all the participants, and s4 presented autistic behaviors. fetal alcohol spectrum disorders were confirmed in s1, s2 and s5 and the diagnosis of fetal alcohol syndrome was confirmed for s3 and s4. the results showed variability in the development of the studied abilities among the siblings with fetal alcohol spectrum disorders. the variability of the findings, especially in communicative abilities and behavior, suggests the need to follow-up children with reports of alcohol use by the mother, considering the impact of these disorders on these individuals' global development, including daily life activities and schooling.
Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis
Lamnica, Dionísia Aparecida Cusin;Silva, Greyce Kelly da;Furlan, Renata Heloísa;Abramides, Dagma Venturini Marques;Vieira, Gustavo Henrique;Moretti-Ferreira, Danilo;Giacheti, Célia Maria;
Revista CEFAC , 2012, DOI: 10.1590/S1516-18462011005000118
Abstract: background: this study aimed to describe the clinical, behavioral, cognitive and communicative features of subjects with smith-magenis syndrome genetic diagnosis. procedures: the subjects were two males, 09 and 19 year old. we performed a clinical and laboratory genetic evaluation (fish assay using probes for the region 17p11.2). the psychological evaluation consisted of behavioral observation and application of the wechsler intelligence scale. speech evaluation was performed by means of formal and informal procedures and peripheral hearing evaluation. results: the clinical genetic analysis showed the phenotypic characteristics of smith-magenis syndrome, confirmed by laboratory evaluation. the psychological evaluation revealed the peculiar phenotype behavioral of smith-magenis syndrome and confirmed the moderate intellectual disabilities in two subjects. speech evaluation showed changes in language performance, with changes in phonological, semantic, syntactic and pragmatic levels and psycholinguistic skills, interfering with communication and learning skills. the hearing test showed peripheral hearing within normal parameters. conclusion: the multidisciplinary approach made easier the description of clinical, behavioral, cognitive aspects, belonging to the behavioral phenotype of smith-magenis syndrome and showed that these changes have severe oral language alterations in skills and psycholinguistic processing of visual and auditory information with remarkable consequences on the development of communicative skills and learning processes.
Caracteriza??o morfológica de frutos, sementes e plantulas de Sesbania virgata (Cav.) Pers
Araujo, Erneida C. de;Mendon?a, Andrea Vita R.;Barroso, Deborah G.;Lamnica, Kelly R.;Silva, Roberto F. da;
Revista Brasileira de Sementes , 2004, DOI: 10.1590/S0101-31222004000100016
Abstract: sesbania virgata is a bush, pioneer and occurs naturally brazil. it belongs to the leguminosae-faboideae family and is indicated for recovery-degraded areas due to its rusticity and capacity of establishing symbiosis with rhizobial. but, in spite of its wide distribution, to date there is no morphologic description of the propagation structures and the plantule. this study describes the morphologic characters of the fruits, seeds and plantules, and characterizes the germination process of sesbania virgata. for the study of the fruit, the following aspects were observed: type; color; dimensions; texture and consistence of the pericarp; opening; and number of seeds per fruit. the aspects observed for the seeds were: color; dimensions; weigt of 1000 seeds; tegument texture and consistency; form; embroider (?), hilum and other structures position and embryo characteristics. the plantules were characterized at two stages. the plantule stage was considered when the foliage leaves were totally formed and at young plant stage starting from the appearance of the 2nd foliage leaf. the described and cultured vegetative elements were root (main and secondary), collar, hypocotyls, cotyledons, epicotyls, foliage leaf (1st and 2nd orders) and stem. the sesbania virgata fruit is an indehiscent legume measuring 5,8 cm with 2 to 6 seeds. the sesbania virgata seeds are kidney-shaped and endospermic and there is no internal tegument. the hilum and the strophiole are easily distinguishable. the apical axis-embryo is inserted in the cotyledons. the seed germination is the epigeal type.
Desempenho da gliricídia no cultivo em aleias em pomar organico de mangueira e gravioleira
Paulino, Gleicia Miranda;Barroso, Deborah Guerra;Lamnica, Kelly Ribeiro;Costa, Gilmar Santos;Carneiro, José Geraldo de Araújo;
Revista árvore , 2011, DOI: 10.1590/S0100-67622011000500003
Abstract: an alley cropping system with gliricidia was established in an organic orchard of mango and soursop trees at one year after the planting of the fruit trees, in campos dos goytacazes-rj-brazil. the objective of this work was to evaluate the survival and performance of the gliricidia in the alley cropping in relation to the production of dry fitomass and the nutrient supply to the system. gliricidia showed high survival rates (93%). the annual average of dry fitomass yield and the addition of nutrients to the system were greater in the second year of evaluation (2007) than in the first year (2006), both with three annual prunings that adjusted with the recommended periods of fruit trees fertilization, in special the soursop tree. the quantity of n added to the orchard with gliricidia prunes was higher than the recommended fertilization for mango and soursop tree plots. on the other hand, quantities of p and k added to the orchard were not enough to supply the fertilization demanded for both cultures. gliricidia presented good performance under the experiment conditions, with potential for continuous use in the system and possibility of using nutrients supplied by the fruit trees into the system. however, further long term evaluations are necessary to verify the sustainability of the intercropping.
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