Genetic basis of hyperlysinemia

Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia. Methods. We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features. Results: We found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1. Conclusions: Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient

La conservazione preventiva del patrimonio librario come possibile alternativa al restauro tradizionale

The present paper focuses on the close relation between library collections and their preservation environment, aiming, in particular, at highlighting the importance of promoting and sustaining the monitoring. The paper proposes some simple and ready-to-use technologies – smart monitoring – to prevent future damages

Determinants of birth weight: Does air pollution have an influential effect?

To investigate the influence of air pollution on birth weight, information on maternal and infant characteristics was collected from 458 mothers of infants less than one year of age born in 1995 and under observation at a mother and child health center in Ankara. In addition, the obstetrical histories of 520 infants born in 1990 were collected from the delivery room records of a maternity hospital. Daily air pollution data were obtained and mean monthly values were used for statistical analysis. Among the possible risk factors, sex, maternal age, maternal employment, paternal employment and parity were found to be influential factors on low birth weight. In addition, first trimester sulphur dioxide (SO 2 ) and particulate matter (PM) levels were also found to be factors affecting birth weight. However, these effects were shown not to be statistically significant by logistic regression analysis. A comprasion of mean birth weights according to maternal smoking and exposure to passive smoking on the basis of the third trimester SO 2 and PM levels revealed no significant difference; however, the difference in birthweight of non-smoking mothers was higher than that of smoking mothers when the third trimester SO 2 levels were above the minimum effect level (100 g and 220 g, respectively). These findings led us to propose a synergistic effect of smoking and air pollution. It was concluded that, air pollution in Ankara is not on its own a major risk factor for low birth weight.To investigate the influence of air pollution on birth weight, information on maternal and infant characteristics was collected from 458 mothers of infants less than one year of age born in 1995 and under observation at a mother and child health center in Ankara. In addition, the obstetrical histories of 520 infants born in 1990 were collected from the delivery room records of a maternity hospital. Daily air pollution data were obtained and mean monthly values were used for statistical analysis. Among the possible risk factors, sex, maternal age, maternal employment, paternal employment and parity were found to be influential factors on low birth weight. In addition, first trimester sulphur dioxide (SO 2 ) and particulate matter (PM) levels were also found to be factors affecting birth weight. However, these effects were shown not to be statistically significant by logistic regression analysis. A comprasion of mean birth weights according to maternal smoking and exposure to passive smoking on the basis of the third trimester SO 2 and PM levels revealed no significant difference; however, the difference in birthweight of non-smoking mothers was higher than that of smoking mothers when the third trimester SO 2 levels were above the minimum effect level (100 g and 220 g, respectively). These findings led us to propose a synergistic effect of smoking and air pollution. It was concluded that, air pollution in Ankara is not on its own a major risk factor for low birth weight

The importance of internal heat gains for building cooling design

This paper aims to investigate the effect of internal heat gains on the cooling load of a building. The house occupied by three adult men is selected as the case study for paper. The house is in the third floor of the apartment. The apartment has four flats and it has no insulation around the external walls. The heat dissipation from lighting devices, electrical equipment and the occupants are calculated by using the DesignBuilder v4 Beta release simulation program. The temperature of the house is observed during three weeks by using hobo data loggers and calibration of the measurements is made with respect to weather data file of the flat. Detailed schedule based on time of operation and occupancy is prepared to get more accurate results. Annual energy consumption and cooling load of the house is determined by using the dynamic simulation program

Mutation analysis in arsb gene in Turkish patients with mps type vı: high prevalence of L321P mutation

WOS: 00030983780047

The effect of spatial interventions on historic buildings' indoor climate (Case Study: Tire Necip Paşa Library, Izmir-Turkey)

9th Mediterranean Conference of HVAC: Historical Buildings Retrofit in the Mediterranean Area, Climamed 2017; Matera; Italy; 12 May 2017 through 13 May 2017The indoor climate of historic libraries should meet rigorous requirements related to human thermal comfort and conservation of books, manuscripts and cultural proper-ties. Paper based collections in historic libraries can be deteriorated chemically, mechanically and biologically because of inadequate indoor climate conditions. In this paper, Necip Paşa Library, the historic library located in Tire-Izmir, Turkey, was selected as a case study. The chemical, mechanical and biological degradation risks on the manuscripts were evaluated based on the indoor climate parameters measured for one year period. The Library, consisting of a main hall, a manuscript zone and an entrance hall, was modelled via the dynamic simulation software, Design Builder. Calibration of the model was conducted with respect to the measured indoor temperature and relative humidity values. The portico/Revak at the south facade of Library was converted into the entrance hall by wooden framed windows in 1930. To be able to see the effect of that intervention on the indoor climate (correspondingly on degradation risk of the manuscripts), a new model, namely semi-open model, was created and simulated. A remarkable change has not been observed on chemical degradation risk when the results of semi-open and existing library models were compared, while mechanical and biological degradation risks were less in semi-open model

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency

Analysis of a priority flow control valve with hydraulic system simulation model

Mobile direction control valves are hydraulic system components which transfer the hydraulic oil to the accelerator to control the system. These components are mostly used in tractors, forklifts, and backhoe loaders. Forward or backward movement of the valve spools determines the motion direction and speed of the equipment. However, in some cases, using the flow control valves is an effective way to determine the speed of movement. For a tractor with multiple actuators, direction control valves with priority flow control should be used to supply low flow rate without load dependency to the actuator. In this paper, priority flow control valve is modeled using one-dimensional simulation technique and simulation results are validated with the experimental results