Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Effect of diosmin on lipid peoxidation and organ damage against subacute deltamethrin exposure in rats

Environmental Science and Pollution Research - The aim of this study was to investigate the protective efficacy of diosmin against subacute deltamethrin exposure. For this purpose, 40 male Wistar...     

Aeromonas and Pseudomonas: antibiotic and heavy metal resistance species from Iskenderun Bay, Turkey (northeast Mediterranean Sea)

We studied the susceptibility patterns to 15 different antibiotics and six heavy metals in Aeromonas spp. and Pseudomonas spp. isolated from Iskenderun Bay, Turkey (northeast Mediterranean Sea). A high percentage of Aeromonas isolates showed resistance to cefazolin (66.6%) and trimethoprim–sulphamethoxazole (66.6%). Amongst the Pseudomonas isolates, there was a high incidence of resistance to nitrofurantoin (86.2%), cefazolin (84.8%) and cefuroxime (71.7%). Most isolates showed tolerance to different concentrations of heavy metals, and minimal inhibition concentrations ranged from 25 to >3,200 μg/ml. The Aeromonas spp. and Pseudomonas spp. showed high resistance to copper of 98.3% and 75.4%, respectively, and low resistance to lead of 1.7% and 7.2%, respectively. Our results show that antibiotic and heavy metal resistant Aeromonas spp. and Pseudomonas spp. were widespread in Iskenderun Bay in 2007 and 2008. The increasing presence of antibiotic and heavy metal resistant Aeromonas spp. and Pseudomonas spp. may become a potential human health hazard.     

Development of an efficient and sensitive analytical method for the determination of copper at trace levels by slotted quartz tube atomic absorption spectrometry after vortex-assisted dispersive liquid-liquid microextraction in biota and water samples using a novel ligand

This study describes the determination of trace levels of copper by slotted quartz tube atomic absorption spectrometry after dispersive liquid-liquid microextraction. A ligand synthesized from the reaction of salicylaldehyde and 1-naphthylamine was used to form coordinate copper complex prior to extraction. All parameters that influence the output of complex formation, extraction, and instrumental measurement were optimized to enhance the absorbance signal of copper. Under the optimum conditions, about 104-fold enhancement in sensitivity was recorded over the conventional flame atomic absorption spectrometer, corresponding to a 0.51 ng/mL detection limit. The percent relative standard deviation calculated for the lowest concentration (4.8%) indicated high precision for the experimental procedure. Accuracy and applicability of the optimum method were determined by performing spiked recovery tests on urine, lake water, and mineral water samples. Satisfactory recovery results were obtained between 82.2 and 106.3% at four different concentrations. Matrix matching method was also performed to increase the accuracy of quantification, and the percent recovery calculated for 175 ng/mL was 105.14%.     

Association of extinction risk of saproxylic beetles with ecological degradation of forests in Europe

To reduce future loss of biodiversity and to allocate conservation funds effectively, the major drivers behind large‐scale extinction processes must be identified. A promising approach is to link the red‐list status of species and specific traits that connect species of functionally important taxa or guilds to resources they rely on. Such traits can be used to detect the influence of anthropogenic ecosystem changes and conservation efforts on species, which allows for practical recommendations for conservation. We modeled the German Red List categories as an ordinal index of extinction risk of 1025 saproxylic beetles with a proportional‐odds linear mixed‐effects model for ordered categorical responses. In this model, we estimated fixed effects for intrinsic traits characterizing species biology, required resources, and distribution with phylogenetically correlated random intercepts. The model also allowed predictions of extinction risk for species with no red‐list category. Our model revealed a higher extinction risk for lowland and large species as well as for species that rely on wood of large diameter, broad‐leaved trees, or open canopy. These results mirror well the ecological degradation of European forests over the last centuries caused by modern forestry, that is the conversion of natural broad‐leaved forests to dense conifer‐dominated forests and the loss of old growth and dead wood. Therefore, conservation activities aimed at saproxylic beetles in all types of forests in Central and Western Europe should focus on lowlands, and habitat management of forest stands should aim at increasing the amount of dead wood of large diameter, dead wood of broad‐leaved trees, and dead wood in sunny areas.     

The emergence of the transition movement in Canada: success and impact through the eyes of initiative leaders

ABSTRACT

Originating in the UK in 2006, the Transition movement is oriented to local grassroots citizen-led efforts that prepare for and support a societal energy transition to a low-carbon future in response to climate change, peak oil, ecological degradation, and economic instability. Overlapping significantly with relocalization, degrowth/slow growth, local food, and related movements, and based on permaculture principles and a distributed network model, it embraces the opportunity to turn crisis into an opportunity to build more resilient, convivial, and vibrant local communities, declaring that “if it’s not fun, it’s not sustainable”. The Transition approach has spread rapidly around the world, including initiatives in over 100 communities and cities in Canada. This paper reports on the methods and results of a Canadian community-based research study aimed at understanding how and where the movement has taken root across the country, what Transition practice looks like, challenges and opportunities encountered, and lessons learned that could be applied within the movement and by others interested in the role of citizen-led initiatives for sustainability transition. Utilising a practice theory lens, drawing on an extensive web-scan of the movement’s online presence, a survey and interviews with initiative (co)founders, an e-survey of Transition members/participants, regional “structured story-dialogue” workshops, and key informant interviews, and informed by input from a Movement Advisory Group, we describe the research process and explore what success and impact mean to those most active in the movement.     

Collembola gut passage shapes microbial communities in faecal pellets but not viability of dietary algal cells

Microarthropods are known as vectors for soil microorganisms, predominantly fungi. This laboratory study uses the widespread unicellular green algae Chlorella vulgaris as model to assess the role of Collembola in algal dispersal and to determine the effects of gut passage on propagation. Living algal cells were observed in 70 % of the faecal pellets of Folsomia candida, Heteromurus nitidus and Protaphorura fimata. Moreover, marker fatty acids for green algae, i.e. 16:2ω6,9 and 16:3ω3,6,9, were consistently detected in the pellets. Compared to the algal diet, the high content of methyl-branched total lipid fatty acid (TLFA) with hydroxyl substitution indicated microbial colonisation during gut passage. The TLFA profile of faeces revealed no species-specific differences but similar changes in microbial communities over the duration of feeding, indicating comparable indigenous bacteria and colonisation mechanisms during gut passage. In sum, faecal pellets of soil microarthropods such as Collembola can act as a vector for both dietary algae and specific gut-associated microorganisms, with the latter likely involved in resource degradation inside and outside the gut habitat.