Teste Repositóri
2014-01-01
Resultados de pesquisa
Foram encontrados 84 registos.
Genome-wide association studies (GWAS) for Autism Spectrum Disorder (ASD) thus far met limited success in the identification of common risk variants, consistent with the notion that variants with small individual effects cannot be detected individually in single SNP analysis. To further capture disease risk gene information from ASD association studies, we applied a network-based strategy to the Autism Genome Project (AGP) and the Autism Genetics Resource Exchange GWAS datasets, combining family-based association data with Human Protein-Protein interaction (PPI) data. Our analysis showed that autism-associated proteins at higher than conventional levels of significance (P<0.1) directly interact more than random expectation and are involved in a limited number of interconnected biological processes, indicating that they are functionally...
Powders of Dunaliella salina biomass were obtained by spray drying a cell concentrate under different drying regimes. A three-factor, two-level experimental design was employed to investigate the influence of inlet temperature, outlet temperature and feed solids on b-carotene recovery. The effect of microencapsulation in a polymer
matrix of maltodextrin and gum arabic was also studied. All powders were stored under specific conditions to assess the stability of the native b-carotene. There was a trend indicating that lower outlet temperature yielded higher carotenoid recoveries, b-carotene recovery varying between 57% and 91%. Microencapsulated biomass yielded 100% recoveries. All non-microencapsulated powders were unstable in terms of b-carotene content in the presence of natural light and oxygen showing 90% degradation over a 7-day ...
Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.
Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine
metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity. They are characterized by low
levels of cerebral creatine caused by different pathogenic mutations concerning the genes coding for creatine synthesis enzymes
[arginine: glicyne amidinotransferase (AGAT, EC 2.1.4.1) and guanidinoacetate methyltansferase (GAMT, EC 2.1.1.2)], AGAT and
GAMT, respectively, or its transporter (CT1 deficiency), SLC6A8. Enzymatic deficiencies are transmitted as autosomal recessive traits,
whereas the transporter deficit is X-linked.
Objectives: To characterize the clinical and laboratorial presentation, diagnosis and treatment of cerebral creatine deficiency patients,
followed ...
INTRODUCTION:
In recent years there has been an increase of infections caused by multidrug-resistant bacteria. Paediatric data are scarce, particularly at national level.
AIMS:
To analyse trends of health-care associated multidrug-resistant bacteria infections in a paediatric hospital.
MATERIAL AND METHODS:
A retrospective incidence study was conducted in medical, surgical and intensive care wards in a level III paediatric hospital, from January 2005 to December 2009. The studied multidrug-resistant bacteria were methicillin-resistant Staphylococcus aureus (MRSA), ESBL-producing bacilli, vancomycin-resistant Enterococcus spp, multidrug-resistant Pseudomonas aeruginosa (PA-MDR) and Acinetobacter baumannii resistant to carbapenems. Demographic, clinical and laboratory data, treatment and presence of risk factors for these infections...
RESUMO Introdução: O ruído tem sido considerado
como uma importante fonte de
stress podendo complicar o tratamento
dos recém-nascidos e como factor de risco
para o seu desenvolvimento. O ruído
também é reconhecidamente uma fonte
de stress e patologia para os profissionais
de saúde, dificultando o seu trabalho
e agravando o risco de erro.
Metodologia: Foi feita uma estimativa
do nível contínuo equivalente em 3
postos de cuidados intensivos da Unidade
de Cuidados Intensivos Neonatais
da Clínica Universitária Pediátrica do
Hospital de Santa Maria, com diferentes
tipos de incubadora e diferentes modos
de ventilação, de manhã e de noite. Esta
avaliação era desconhecida para todas
as pessoas que se encontravam na Unidade.
Foi estimado o ruído dentro das incubadoras
com a porta aberta e fechada
e fora das incubadoras. Foi...
Comunicação apresentada no I Congresso Ibérico de Ciências Hortícolas, 18 a 21 de Junho de 1990 em Lisboa.
