Prenatal diagnosis of charcot-marie-tooth disease type 1a (CMT1A) using molecular genetic techniques

Charcot-Marie-Tooth disease type 1A (CMT1A) is a frequent hereditary motor and sensory neuropathy of the peripheral nerves. In most cases, the disease is associated with a 1.5 Mb tandem duplication at 17p11.2. A 42-year-old pregnant woman requested prenatal diagnosis because of her age and since both her husband and two children were severely affected with CMT1. The CMT1A duplication was demonstrated in the father's, the two children's, and the fetus's DNA using different molecular genetic methods. Although cytogenetical analysis showed a normal female karyotype in the fetus, the parents decided to terminate the pregnancy because of the genetic risk associated with the CMT1A duplication.     

Genetic amniocentesis in twin pregnancy

Among 1041 pregnancies 13 twin gestations were detected by routine ultrasonography prior to genetic amniocentesis at the Department of Prenatal Physiopathology of the University of Bologna. Clear amniotic fluid from both sacs was obtained in 12 of 13 sets of twins. All 12 sets were cytogenetically normal with normal levels of α-fetoprotein. Only one patient spontaneously aborted liveborn immature twins 30 days after the procedure. The technique used to obtain samples of fluid is described in detail and the need for additional counselling prior to amniocentesis in twins is stressed.     

Performance and water-use efficiency (single-leaf vs. whole-canopy) of well-watered and half-stressed split-root Lambrusco grapevines grown in Po Valley (Italy)

‘Lambrusco a foglia frastagliata’ grapevines (Vitis vinifera L.) were grown outdoors at Piacenza (44°55′N, 9°44′E, Po Valley, Italy) with the root system split between two 30-L pots and subjected from pre-veraison (17 July) to harvest (5 September) to soil drying of half of the root system (HS) induced by withholding water from one of the two pots as compared to well-watered (WW) vines (both pots daily recharged at field capacity). Volumetric soil-water content, pre-dawn and mid-morning leaf water potential, single-leaf gas-exchange as assimilation rate, stomatal conductance and transpiration were monitored throughout the trial. Whole-canopy gas-exchange as net CO₂ exchange rate (NCER) and transpiration were tracked from 31 August to 7 September on three vines per treatment on a 24-h basis using an enclosure method. Primary leaf carbon isotope (δ¹³C) composition, yield components and must composition were determined at harvest.Withdrawing water from one pot triggered a water stress response showing higher stomatal sensitivity to changes in air vapour pressure deficit, relatively low assimilation rates, high intrinsic and extrinsic water-use efficiency (WUE) and earlier cessation of shoot growth. Yet, mid-morning leaf water potential was consistently lower in HS treatment over stress as compared to WW, indicating an anisohydric adjustment. Canopy NCER given on a leaf-area basis showed mean daily rates ranging from 3.9 to 4.9 μmol m² s^?1 in WW canopies against 2.6–3.0 μmol m^?2 s^?1 in HS. Conversely, canopy transpiration rates varied from 0.915 to 1.157 mmol m^?2 s^?1 for WW to 0.630–0.714 mmol m² s^?1 in HS. Increased leaf-based intrinsic and extrinsic WUE in HS did not match the canopy response, which to some extent resulted in an opposite outcome, i.e. higher canopy WUE in well-watered vines especially in the morning hours. Likewise, δ¹³C did not differ between treatments. This suggests caution when point-time determinations of single-leaf-based WUE are extrapolated to the whole-canopy behaviour when assessing the water saving strategies of a given genotype. The stressed vines achieved no variation in yield level and components and had improved grape composition as to soluble solids and total anthocyanins. This optimal behaviour is likely due to earlier shoot growth cessation, enhanced maturity and a buffering leaf-to-fruit ratio (3.61 m² kg^?1) that mitigated the effects of post-veraison stress.     

Airborne concentrations of SARS-CoV-2 in indoor community environments in Italy

Environmental Science and Pollution Research - COVID-19 pandemic raised a debate regarding the role of airborne transmission. Information regarding virus-laden aerosol concentrations is still...     

Linking male qualities to multiple display traits: an example in a fish with exclusive male care

Recent theoretical models predict that the relative allocation to advertisement and parental care depends on whether paternal care is necessary for offspring survival: In species with exclusive male care, male investment in attraction is expected to reliably indicate paternal care effort and male phenotypic quality. Previous research, yielding contrasting results, has considered how one trait involved in mate attraction interacts with parental care or a specific aspect of male quality. In the blenny Salaria pavo, we perform a comprehensive analysis of the interplay between overall male attractiveness and male quality, the latter in terms of fertility, condition, and parental care. In this fish, males are larger than females, exhibit two sexually dimorphic traits (head crest and anal glands), and solely care for eggs. We generated a male attractiveness index through principal component analyses of morphological traits and quantified parental effort as the total time spent in egg care. In addition, we analyzed the relationships between specific components of attractiveness and male qualities. In agreement with theory predictions, we found that male overall attractiveness is a reliable indicator of fertility, in terms of sperm number, but is unrelated to body condition and parental care effort, with males able to perform high levels of care regardless of their level of advertisement. However, the relative expression of head crest area appears positively related to sperm number but is traded-off with parental care effort. These findings underline the need, in addressing real patterns, to consider interactions between multiple aspects of male display and quality.     

Evidence of dispersal limitation in soil microorganisms: isolation reduces species richness on mycorrhizal tree islands

Dispersal limitation plays an important role in a number of equilibrium and nonequilibrium theories about community ecology. In this study we use the framework of island biogeography to look for evidence of dispersal limitation in ectomycorrhizal fungal assemblages on "tree islands," patches of host trees located in a non-host vegetation matrix. Because of the potentially strong effects of island area on species richness and immigration, we chose to control island size by sampling tree islands consisting of a single host individual. Richness on tree islands was high, with estimates ranging up to 42 species of ectomycorrhizal fungi associating with a single host individual. Species richness decreased significantly with increasing isolation of tree islands, with our regression predicting a 50% decrease in species richness when tree islands are located distances of approximately 1 km from large patches of contiguous forests. Despite the fact that fungal fruit bodies produce large numbers of spores with high potential for long-distance travel, these results suggest that dispersal limitation is significant in ectomycorrhizal assemblages. There were no discernible effects of isolation or environment on the species identity of tree island fungal colonists. In contrast to the highly predictable patterns of tree island colonization we observed in a previous study on early successional forests, we suggest that over longer time periods the community assembly process becomes more dominated by stochastic immigration and local extinction events.     

Environmental regulation of exploration and mining operations in Asian countries

This paper offers a new perspective on the environmental laws in Asian nations affecting the exploration, mining, and reclamation activities of the mineral resource industry: the perspective of the senior government officials in those countries, whose job is to enforce these new environmental laws. The article presents the results of a 1998 survey of national environmental officials in Asia conducted by the Colorado School of Mines and the Metal Mining Agency of Japan. Officials in 10 diverse countries—Cambodia, China, Indonesia, Lao PDR, Malaysia, Myanmar, Mongolia, Philippines, Thailand and Vietnam—responded to a detailed questionnaire covering applicable laws, agencies, protected areas, covered mineral activities, financial assurance, environmental impact assessment, public involvement, environmental standards, permit and reclamation requirements.
The survey confirms that Asian nations are part of the global trend towards national government regulatory structures that balance mineral development objectives with environmental considerations. The survey also shows developing regulatory systems (some embryonic, some more mature) utilizing a combination of mining and environmental acts, and often an 'insider' perspective of the national officials administering the laws. While that perspective is not without its biases (not least the rigor of enforcement), it may nevertheless be of use in company planning. The emerging regulatory picture contradicts the conventional notion that it is the 'lower' level of regulation in Asia that is attracting foreign direct investment in mining.