90 research outputs found
Klinefelter's syndrome and psychoneurologic function
No full textKlinefelter's syndrome (KS) is due to the presence of one or more supernumerary X chromosomes. Aneuploidy 47,XXY is the most common abnormality of sex chromosomes in humans, with an incidence of 1/500 male live births. Only one-third of subjects with KS is, however, diagnosed. The aim of this work is to present a review of current literature about neurogenetic functions in KS, referring to both clinical and therapeutics aspects. If it is well known that the majority of subjects with 47,XXY karyotype have a normal intellectual level, the identification of strengths and weaknesses of their intellectual functioning is important for the purpose of planning early psycho-educational interventions. Language difficulties are one of the more distinctive traits in cognitive functioning of people with KS. It has also been suggested that the limitations in communication markedly affect social adaptation and behavioral aspects, as well as the development of personality. Moreover, difficulties in learning language appear to be related to an altered functional lateralization; therefore, KS subjects are a suitable model for studying genetic abnormalities of lateralization. In this, perspective psychopathological risk is analyzed. Early recognition of this aspect is needed to address the educational and therapeutic perspectives for KS subjects
Betão auto-compactável com incorporação de resíduo de mármore
No full text[PT] O setor da construção civil é responsável por um grande consumo de matérias-primas e pela
intensa geração de resíduos, e vem trabalhando na criação de procedimentos e produtos,
buscando cada vez mais a sustentabilidade. O betão auto-compactável (BAC) permite a
produção de um material mais “verde”, por exemplo, através do reaproveitamento de
resíduos industriais. No presente trabalho desenvolveu-se um programa experimental
visando a otimização de composições de BAC com incorporação do resíduo do
beneficiamento de mármores, da região do Alentejo em Portugal, conhecida como Zona do
Mármore. O programa experimental foi realizado segundo um plano fatorial ao nível do
betão, fixando a composição da pasta, para otimizar o esqueleto sólido formado pelos
agregados. Os resultados obtidos permitiram concluir que é possível substituir cimento por
pó de mármore sem afetar significativamente as propriedades de autocompactabilidade e
assim conseguir composições de BAC de mais baixa resistência e mais eco-eficientes,
adequadas a uma grande variedade de aplicações de betão estrutural.Este trabalho foi financiado pelo Projeto POCI-01-0145-FEDER-007457 – CONSTRUCT – Instituto de I&D em Estruturas e Construções – financiado pelo Fundo Europeu de Desenvolvimento Regional (FEDER) através do COMPETE2020 – Programa Operacional Competitividade e Internacionalização (POCI) e por fundos nacionais através da Fundação para a Ciência e a Tecnologia I.P. Os autores agradecem ainda o apoio do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Instituto Federal Fluminense (IFF) e do Centro Tecnológico da Pedra Natural de Portugal (CEVALOR).Destefani, A.; Nunes, S.; Sousa-Countinho, J. (2017). Betão auto-compactável com incorporação de resíduo de mármore. En HAC 2018. V Congreso Iberoamericano de hormigón autocompactable y hormigones especiales. Editorial Universitat Politècnica de València. 137-146. https://doi.org/10.4995/HAC2018.2018.5484OCS13714
Late diagnosis of Klinefelter syndrome (KS): role of learning disabilities (LD) and behavioural disorders
No full textMay car washing represent a risk for Legionella infection?
No full textBackground. Legionella is a ubiquitous Gram-negative bacterium naturally found in aquatic environments. It can pose a health problem when it grows and spreads in man-made water systems. Legionella pneumophila is the most common cause of Legionnaires’ disease nowadays, a community-acquired pneumonia with pulmonary symptoms and chest radiography no different from any other form of infectious pneumonia. Legionella monitoring is important for public health reasons, including the identification of unusual environmental sources of Legionella.
Methods. We report two cases of Legionnaires’ disease associated with two different car wash installations in the province of Vicenza, in the Veneto region, northeastern Italy. Patients were not employees of the car wash installations, but users of the service. In both cases, Legionella antigen was detected in urine using the Alere BinaxNOW® Legionella Urinary Antigen, and Legionella antibodies were detected in serum using SERION ELISA classic Legionella pneumophila 1-7 IgG and IgM. Water samples were also analyzed as part of the surveillance program for Legionella prevention and control in compliance with the Italian guidelines.
Results. Both patients had clinical symptoms and chest radiography compatible with pneumonia, and only one of them had diabetes as a risk factor. Legionella urinary antigen and serological test on serum samples were positive for Legionella in both patients, even if much slighter in the case A due to the retrospective serological investigation performed a year later the episode and after the second clinical case occurred in the same district. The environmental investigations highlighted two different car wash plants as potential source of infection. A certified company using shock hyperchlorination was asked to disinfect the two plants and, subsequently, control samples resulted negative for Legionella pneumophila.
Conclusions. Any water source producing aerosols should be considered at risk for the transmission of Legionella bacteria, including car wash installations frequently used by a large number of customers and where poor maintenance probably creates favorable conditions for Legionella overgrowth and spreading. Additional research is needed to ascertain optimal strategies for Legionella monitoring and control, but environmental surveillance, paying careful attention to possible unconventional sources, should remain an important component of any Legionnaires’ disease prevention program. Additionally, all available diagnostic methods would be recommended for the confirmation of all cases even in the event of non-serogroup 1 Legionella pneumophila infection, probably underestimated at this time
Estimativa do tamanho amostral em alfafa (medicago sativa l.).
No full textEl objetivo de este trabajo fue utilizar las técnicas de análisis exploratorio y de la medidas repetidas (MR) considerando datos de la producción de materia seca (PMS) obtenidos de 20 cortes mensuales de 92 acessos de alfalfa (Medicago L sativa.). La matriz de la variación-covariación seleccionada para modelar la correlación entre datos de los cortes (medidas repetidas) fue la autoregresiva de primer orden con media móvil- ARMA(1,1), seguida por la estructura autoregresiva de primer-orden - AR(1).Resumos na seguinte fonte: Archivos Latinoamerico de produccion Animal, v. 15, (supl.1), p. , 2007
Late disagnosis in severe and mild intellectual diasability in adulthood
No full textBACKGROUND:
The diagnosis of intellectual disability (ID) is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the patient. Our study intended to: (1) classify the aetiology of mild and severe ID in an adult population of 140 Italian subjects; (2) evaluate the frequency of associated medical conditions; (3) evaluate the age of diagnosis in both groups; and (4) underline the importance of aetiological diagnosis for adult ID patients also.
METHODS:
The study involved 140 consecutive adult Italian ID inpatients and outpatients neurologically investigated at the Neurological Institute C. Mondino of Pavia Service for Mental Retardation. A total of 80 patients had mild ID (MID group) (39 females, 41 males), mean age 34 years (range 19-61 years), mean IQ = 64 (range 51-75), and 60 had severe ID (SID group) (32 females, 28 males), mean age 30 years (range 19-69 years). They underwent a complete diagnostic work-up that comprised prenatal, perinatal and postnatal history, physical examinations, laboratory investigations, genetic survey and neuroradiological investigations to determine the aetiology of ID and to evaluate the presence of associated medical conditions.
RESULTS:
ID aetiology was classified as prenatal in 34% of the MID and 28% of the SID group. Perinatal and postnatal events were found in 6% of the MID and in 5% of the SID group. Associated medical conditions were found in 97 patients (47% MID and 26% SID). A genetic diagnosis was possible in 6% of patients above 20 years of age and in 5% of patients above 40 years. A diagnosis of cerebral dysgenesis was possible in 5% of patients above 20 years and 4% of patients above 40 years.
CONCLUSIONS:
A long interval between the diagnosis of ID and the aetiological definition can be observed in a significant percentage (24%) of our population, leading to unfortunate consequences of late diagnosis: late onset of a specific therapeutic program, genetic counselling that is frequently no more useful, and ineffective prenatal diagnosis, leading to the birth of other affected subjects (for familiar ID)
Estudo do desenvolvimento dos filhotes expostos ao herbicida sulfentrazona.
No full textForam realizados estudos sobre o efeito do sulfentrazona no desenvolvimento físico de filhotes expostos perinatalmente a doses distintas do herbicida, durante períodos distintos de prenhez. As técnicas utilizadas para avaliar os efeitos dos fatores (fase de prenhez e dose de herbicida) e de suas interações na resposta foram Modelo de Medidas Repetidas, LSD (Least Squares Difference) e técnicas de Comparações MúltiplasRelatório Técnico do Departamento de Estatística
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