Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritance. We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families. Methods Here we present data that refine this locus to a 0.5 cM region, flanked by the microsatellite markers D2S2345 and D2S326. The minimal region contains the candidate gene GAD1, which encodes a glutamate decarboxylase isoform (GAD67), involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter γ-aminobutyric acid (GABA). Results A novel amino acid mis-sense mutation in GAD67 was detected, which segregated with CP in affected individuals. Conclusions This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts

Estudo comparativo da análise de ciclo de vida de concretos geopoliméricos e de concretos à base de cimento Portland composto (CP II)

A Análise de Ciclo de Vida (ACV) é um método que inclui a compilação e avaliação das entradas, saídas e dos impactos de um produto ao longo do seu ciclo de vida. Os resultados desta análise são utilizados para escolher alternativas favoráveis para uma aplicação específica. Este artigo utilizou as ferramentas de ACV, apoiada pelo software Umberto, para comparar o processo de obtenção de concretos de cimento Portland com o de concretos geopoliméricos, obtidos da ativação alcalina de aluminossilicatos. O impacto ambiental foi avaliado considerando 1 m³ de cada concreto, sendo (i) as emissões de CO2 (kg CO2/ m³) e (ii) a demanda energética (MJ/m³) as variáveis para determinar o potencial sustentável de ambos materiais. O objetivo principal foi avaliar se os concretos geopoliméricos são mais sustentáveis do que os concretos tradicionais. Os resultados obtidos mostraram que o consumo energético é reduzido em 45,8% na produção do concreto geopolimérico, quando comparado à produção do concreto de cimento Portland de desempenho mecânico equivalente. Com relação às emissões de CO2, o concreto geopolimérico reduz as emissões em 72,4%, em comparação ao concreto tradicional de cimento Portland CPII. Assim, o primeiro se mostra uma alternativa a ser considerada, na produção de materiais de construção de menor impacto ambiental

CONSTRUCTIONOFAN FIA UNIT AND ITS USE IN THE INVESTIGATION OF IMMOBILISED LIGNIN PEROXIDASE

A flow injection analyser was designed to serve asa tool for the characterisation of enzymes. The original device was constructed from available laboratory equipment, and has subsequently been refined to a fully automated, stand alone unit. The hard- and software have been so conceived as to enable a wide range of applications. All system components are controlled by a microprocessor, which also takes over data acquisition, peak integration and evaluation, and provides a convenientinterface to the user via a key-board and display. We have used this FIA system to investigate the enzymatic properties of lignin peroxidase. This enzyme is believed to play a key role in the biodegradation oflignin by white-rot fungi, and has attracted interest for use in various industrial processes. Lignin peroxidase has a very similar mechanism of action to horse radish peroxidase, butdiffers in its ability to oxidise organic compoundsof higher oxidation potential, and in its extreme sensitivity to inactivation by excess H2O2. The enzyme can be successfully immobilised on a variety of carriers. However when investigated in batch assays, the loss of activity is such that repeated experimentation is impossible. FIA is characterised by small sample volumes, and thus low contact times when working with an immobilised enzyme. We have exploited this to enable investigation of an essentially unstable enzyme system

Influence of perinatal, developmental and environmental factors on cognitive abilities of preterm children without major impairments at 5 years.

The relative role of perinatal factors (birthweight, gestational age, gender, asphyxia, mechanical ventilation and cerebral lesions), developmental factors (neuromotor development during the first 18 months of life) and environmental factors (socio-economic status and bilingualism) on cognitive abilities was evaluated in a cohort of preterm children who had been prospectively examined for haemorrhage (PVH) and periventricular leucomalacia (PVL) and followed-up to 5 years of age. Standardized neurological examinations and development assessment including tests of cognitive function were carried out. Major impairments could be ascribed to the presence of large PVL changes. Among the 226 children without major impairment, the overall incidence of neuropsychological anomalies (neuromotor, language, visual, auditory and behaviour anomalies) was 46.5% and did not differ within ultrasound groups (normal scans, PVH and small PVL). However, children with small changes of PVL presented more abnormal neuromotor development within the first 18 months of life and had more complex neuropsychological anomalies at 5 years. The multiple regression analysis (General Intellectual Index (GII) predicted = 113.7 - coefficient x social class - 8.5 x bilingualism - 5.5 x dystonia + 1.4 x gestational age + 8 x mechanical ventilation) showed that socioeconomic status was the most important factor affecting the General Intellectual Index (GII). The contribution of sex and cerebral lesions was not significant. As children grew-up, environmental factors seemed to overcome perinatal factors

Oekobilanzierung zu Wasch- und Reinigungsmittelrohstoffen und deren Anwendung in der gewerblichen Waescherei. T. 1: Oekoinventare fuer die Produktion von Waschmittel-Inhaltsstoffen. T. 2: Orientierende Oekobilanz von Weichspuelern. T. 3: Analyse gewerblicher Waschprozesse. T. 4: Oekobilanz und Stoffstromanalyse Waschen und Waschmittel

Published in 2 separate volumes. Pt. 1 published as EMPA--244, ISSN 0258-9745. With 3,5' discAvailable from TIB Hannover: RN 8908(2000,106,1): RN 8908(2000,106,2) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEBundesministerium fuer Umwelt, Naturschutz und Reaktorsicherheit, Bonn (Germany)DEGerman