Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction

Determination of airborne lead contamination in Cichorium intybus L In an urban environment

The major source of environmental lead (Pb) is the combustion of leaded gasoline. After emission as exhaust, lead in the air falls to earth and contaminates soil and plants. Seventeen wild chicory ( Cichorium intybus L.) plant samples were collected from each of 2 urban sites in Ankara, one is located at the road side of major intercity road (heavy traffic) and the other one is located in relatively less traffic area that is about 1 km away from the first location. Lead content of chicory plants were analyzed by a flame atomic absorption spectrophotometer. The mean lead concentrations in the heavy traffic site was 8.3 ± 2.8 mg/L with the range of 3.88 ± 1.8 - 14.18 ± 1.76 mg/L. For the low traffic site, the mean was 9.76 ± 6.01 mg/L and the range was from 4.39±1.5 to 19.19 ± 7.8 mg/L. From the statistical analysis, significant differences were not found between the low and heavy traffic influenced sites, indicating that plants from areas away from roads and motor traffic were not free of lead so the consumption of these plants could bring high amounts of lead into food chain

A Suzaku X-ray study of the mixed-morphology supernova remnant Kes 69 and searching for its gamma-ray counterpart

Kes 69 is a mixed-morphology (MM) supernova remnant (SNR) that is known to be interacting with molecular clouds based on 1720 MHz hydroxyl (OH) maser emission observations in the northeastern and southeastern regions. We present an investigation of Kes 69 using similar to 67 ks Suzaku observation. The X-ray spectrum of the whole SNR is well fitted by a non-equilibrium ionization model with an electron temperature of kT(e) similar to 2.5 keV, ionization time-scale of tau similar to 4.1 x 10(10) cm(-3) s and absorbing column density of N-II similar to 3.1 x 10(22) cm(-2). We clearly detected the Fe-K alpha line at similar to 6.5 keV in the spectra. The plasma shows slightly enhanced abundances of Mg, Si, S, and Fe indicating that the plasma is likely to be of ejecta origin. We find no significant feature of a recombining plasma in this SNR. In order to characterize radial variations in the X-ray spectral parameters, we also analyse annular regions in the remnant. We investigate the explosive origin of Kes 69 and favour the core-collapse origin. Additionally, we report a lack of significant gamma-ray emission from Kes 69, after analysing the GeV gamma-ray data taken for about 9 yr by the Large Area Telescope on board Fermi. Finally, we discuss the properties of Kes 69 in the context of other interacting MM SNRs

Investigation of the relationships between stoma resistance and soil water matric potential with other environmental factors in respect of mathematical modelling of plant water consumption

The stoma resistance influences the determination of the transpiration, which is one of the main components of the water balance in the soil and which is one of the morphological properties of the plants. Stoma in the plants control plant water consumption by the cells key doing the functions of closure and disclosure of the apertures through their original structures. In this respect, in the pot experiments which were carried out in a greenhouse conditions, the matric potential of the soil water and plant stoma resistance together along with the other environmental factors were investigated. In this study, using Seri-82 and Adana-99 wheat varieties the matric potential of the soil water and the stoma resistance values at the field capacity and the low moisture levels were measured. In the study, it was observed that the plant stoma resistance was influenced rapidly by the matric potential of the soil water. Although the stoma resistance at the limits of soil water field capacity was found at the limits of 0.69-4.74 s cm-1, the stoma resistance showed increments at the intervals of 7.6-54.8 s cm-1 against the increasing soil water tension

Influence of mediterranean cereal-based rotations on soil micromorphological characteristics

The extent to which land management practices are sustainable depends on the maintenance of soil quality from the physical, chemical and biological perspectives. However, there is little information on soil quality in Mediterranean environments where climatic factors limit carbon (C) input and yet promote mineralization of what little C is returned to the soil. The impact of any soil and crop management practice on soil quality attributes in any ecosystem can only be objectively assessed under long-term agronomic trials. In such trials, especially in fragile, semi-arid regions, little emphasis has been given to soil physical parameters despite the perceived importance of aggregation on crop growth, water relations and erosion. In one long-term, cereal-based trial from Syria, four representative crop sequences were selected as they have varying influence on soil organic matter (SOM) levels, e.g., fallow, continuous wheat (Triticum turgidum var durum), vetch (Vicia sativa), and medic (Medicago spp.). These rotations showed increased aggregate stability as SOM increased. Our study examined water-stable aggregates from these rotations at the micromorphological level using the polarizing (on thin sections) and scanning electron microscope. The observations of the influence of SOM at the micro level were inconsistent with those at the macro level as determined by wet sieving. This discrepancy may be related to the age of the SOM and the extent to which organic carbon is intimately mixed with mineral matter. Nevertheless, the changes determined on the shape and porosity characteristics of the water-stable aggregates suggest the value of the micro-scale approach in understanding the mechanism of soil microstructure development. Micromorphology can identify visual details of the physical changes in the evolution of soil microstructure under varying cropping systems. © 2007

N-Asetiltransferaz ve glutatyon S-transferaz teta polimorfizminin meme kanserri ile olan ilişkilerinin araştırılması

Biyolojik asetilasyon ve S-konjugasyon reaksiyonları, insan ve hayvan türlerinin ana konjugasyon reaksiyonlarından en önemli iki tanesidir. Bu çalışmada, insan meme dokusuna özel asetil koenzim A'ya bağımlı arilamin N-asetiltransferaz (E.C.2.3.1.5) ve glutatyon-S-transferaz (E.C.2.5.1.18) enzim aktiviteleri çalışılmış ve dokulardaki asetilasyon ile glutatyon transferi arasındaki ilişki incelenmiştir. Bu amaçla, meme kanserli 22 kadın hastada, N-asetiltransferaz (NAT1 ve NAT2) ve glutatyon-S-transferaz-teta-2-2 (GSTT2-2) enzim aktiviteleri, kanserli ve normal dokularda tayin edilmiştir. Normal ve kanserli dokularda ortalama değerler, sırasıyla NAT1 için 0,014$\pm$0,01 ve 0,019±0,01 nmol/dak/mg protein; NAT2 için 0,010$\pm$0,01 ve 0,034$\pm$0,03 nmol/dak/mg protein; GSTT2-2 için 0,272$\pm$0,29 ve 0,424$\pm$0,37 nmol/dak/mg protein olarak bulunmuştur.İstatistiksel analizler sonucunda , GSTT2-2 ortalama aktivitesinin kanserli dokularda kontrollere göre daha yüksek olduğu belirlenmiş; kanserli dokularda NAT1 ve GSTT2-2 aktiviteleri arasında negatif bir korelasyon olduğu gözlenmiştir. NAT1'e oranla NAT2 aktivitelerinin meme tümörlerinde belirgin bir şekilde arttığı ve GSTT2-2 aktiviteleri ile pozitif bir korelasyon sergilediği gözlemlenmiştir. Daha önceki çalışmamızda olduğu gibi, kanserli dokularda, kontrol dokularından elde edilen daha yüksek NAT2 ortalama aktivitesi olduğu ve bunun istatiksel olarak anlamlı olduğu tespit edilmiştir

Effect of solarization under different applications on soil temperature variation and microbial activity

Soil solarization is an environment-friendly soil pasteurization technique which uses the solar energy to increase the soil temperature to diminish soil-related pests and pathogens. The efficiency of this technique is closely related with a number of factors such as soil water and organic matter contents and feature of cover material; therefore, the effect of solarization was studied under applications of CO2, basaltic tuff (BT), organic matter (OM) and a different color plastic cover (PE2) on soil temperature and microbial activity as dehydrogenase enzyme activity (DHA) and soil respiration (CO2). The trial was carried out in a greenhouse for 32 days. Organic matter, salt and lime contents, pH and texture class of greenhouse soil were 1.7%, 0.055%, 38.5%, 7.7 and clay, respectively. According to the results, while the lowest CO2 value was determined as 12.9 mg/100 g ds. 24 h in the A6 (PE2) application, the highest CO2 value was determined as 16.3 mg/100 g ds. 24 h in the A4 (+OM 1.5 kg/m2) application. The dehydrogenase enzyme activities (DHA) yielded similar results with the applications, however, the highest value (291.2 µg TPF/10 g ds.) was in A7 (control). Soil (0-5 cm) temperatures varied between 28.1 and 60.1°C with applications and the lowest soil temperature was determined in the control plot. The effect of the applications to soil temperature led to significant differences statistically (p<0.05). The results documented that the organic matter (OM) and CO2 amendments (OM or +OM+CO2) had a role in protecting soil microbial activity (dehydrogenase-DHA) and soil respiration (CO2) from the detrimental effects of the heating of solarization

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Abstract: LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy, and non-specific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in eleven families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified twelve distinct homozygous loss-of-function variants in sixteen individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor (“ear-of-the-lynx” sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain, and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the “ear of the lynx” sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction