Type I antithrombin deficiency: five novel mutations associated with thrombosis

The genetic basis of Type I antithrombin deficiency has been investigated in six unrelated kindred with positive histories of thrombosis using a PCR amplification/direct sequencing approach. Four frameshift mutations, all introducing premature translation termination codons were identified. Thus, deletions, of a C at nucleotide position 2599 or 2600, a G at position 2601-2602 and a CT dinucleotide at position 7428-7429 were detected in three kindred and confirmed by restriction enzyme analysis. The identical insertion, of a T at nucleotide 2770, was observed in two apparently unrelated families. This finding may have been due to a founder effect since antithrombin gene polymorphism analysis showed all affected individuals to share a common haplotype. An in frame deletion of 6 bp at nucleotide position 2690-2696 causing the removal of codons 76 and 77 encoding Ile 76 and Phe 77 was also detected indicating that these amino acids are essential for stability of the mature antithrombin

Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece

[No abstract available

3D Climate Simulations of the Archean Find That Methane has a Strong Cooling Effect at High Concentrations

Methane is thought to have been an important greenhouse gas during the Archean, although its potential warming has been found to be limited at high concentrations due to its high shortwave absorption. We use the Met Office Unified Model, a general circulation model, to further explore the climatic effect of different Archean methane concentrations. Surface warming peaks at a pressure ratio pCH4:pCO2 of approximately 0.1, reaching a maximum of up to 7 K before significant cooling above this ratio. Equator-to-pole temperature differences also tend to increase up to pCH4 ≤ 300 Pa, which is driven by a difference in radiative forcing at the equator and poles by methane and a reduction in the latitudinal extend of the Hadley circulation. 3D models are important to fully capture the cooling effect of methane, due to these impacts of the circulation.</p

3D Climate Simulations of the Archean Find That Methane has a Strong Cooling Effect at High Concentrations

Methane is thought to have been an important greenhouse gas during the Archean, although its potential warming has been found to be limited at high concentrations due to its high shortwave absorption. We use the Met Office Unified Model, a general circulation model, to further explore the climatic effect of different Archean methane concentrations. Surface warming peaks at a pressure ratio pCH4:pCO2 of approximately 0.1, reaching a maximum of up to 7 K before significant cooling above this ratio. Equator-to-pole temperature differences also tend to increase up to pCH4 ≤ 300 Pa, which is driven by a difference in radiative forcing at the equator and poles by methane and a reduction in the latitudinal extend of the Hadley circulation. 3D models are important to fully capture the cooling effect of methane, due to these impacts of the circulation.</p

3D Climate Simulations of the Archean Find That Methane has a Strong Cooling Effect at High Concentrations

Methane is thought to have been an important greenhouse gas during the Archean, although its potential warming has been found to be limited at high concentrations due to its high shortwave absorption. We use the Met Office Unified Model, a general circulation model, to further explore the climatic effect of different Archean methane concentrations. Surface warming peaks at a pressure ratio pCH4:pCO2 of approximately 0.1, reaching a maximum of up to 7 K before significant cooling above this ratio. Equator-to-pole temperature differences also tend to increase up to pCH4 ≤ 300 Pa, which is driven by a difference in radiative forcing at the equator and poles by methane and a reduction in the latitudinal extend of the Hadley circulation. 3D models are important to fully capture the cooling effect of methane, due to these impacts of the circulation.</p

The development of a scale of the Guttman Type for the assessment of mobility disability in multiple sclerosis

Objective: The aim of the study was to develop a valid and reliable unidimensional scale of the Guttman type for the assessment of mobility disability in multiple sclerosis (MS). Subjects: Sixty-eight subjects with a definite diagnosis of MS participated.They were attending as outpatients at a MS unit at a District General Hospital. Thirty had the primary progressive pattern of disease, and 38 had the relapsing-remitting pattern. Methods: Formal assessments used for neurological disability were inspected, and 14 test items of gross motor function were extracted and ordered according to two criteria. These were that actions progressed from lying, to sitting, to standing and walking tasks, and that they progressed from broader to narrower bases of support. All subjects carried out all test items which were scored as ‘pass’ or ‘fail’. Analysis: Data were tested for internal consistency, reliability, inter item correlation, reproducibility and scalability. On the basis of the results, the items were re-ordered in rank, and reduced to eleven tests. The eleven item scale was re-analysed. Results: Results showed that the scale had an internal consistency of 0.88 (alpha coefficient) and a coefficient of reproducibility (CR) of 0.95 and above for both MS subject groups. The coefficient of scalability (CS) for items was 0.78 for primary progressive subjects and 0.74 for the relapsing-remitting group. Reliability ranged from good (kappa = 0.49) for one item, to perfect for six items. Conclusion: The scale was demonstrated to be a hierarchical scale of the Guttman type exhibiting homogeneous unidimensionality and good reliability. The high CR indicated that scores may be summed, and the very acceptable levels of CS indicated that the cumulative scores are meaningful within the defined concept of hierarchy used in this study

Evaluation of steel/primer based on chestnut tannin/paint film systems by EIS

The influence ofa tannin pretreatment applied to slightly rusted steel panels on the anticorrosive performance ofalkyd paint systems has been investigated using electrochemical impedance spectroscopy (EIS) and open circuit potential measurements. From EIS and corrosión potential data analysis it was found that (1) there is not a significant influence of the tannin pretreatment on the anticorrosive protection level, ivhich depends particularly on the barrier effect afforded by the applied paint system (however, as the corrosión process starts, tannins may cause the repassivation of steel); (2) the enhancement ofthe protection level afforded by the tannin primer was restricted to short immersion periods and corrosive media that were not very aggressive; and (3) water uptake was not significantly affected by the presence of the tannin primerFil: Hornus Sack, S.. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Romagnoli, Roberto. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Vetere, Vicente Francisco. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Elsner, Cecilia Ines. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Pardini, Oscar Ricardo. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Amalvy, Javier. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; ArgentinaFil: Di Sarli, Alejandro Ramón. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Centro de Investigaciones en Tecnología de Pinturas. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Centro de Investigaciones en Tecnología de Pinturas; Argentin