Maternal genetic disorders and fetal development

With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. While pregnancy can have a significant impact on a woman's health when there is an underlying genetic disorder, there can also be fetal effects, including embryopathy, fetal growth restriction, and brain injury. Some maternal genetic disorders are associated with adverse perinatal outcomes, including a high risk of perinatal loss and preterm birth. In this article, we review several maternal genetic disorders associated with fetal risk that are important for clinicians and patients to understand and manage appropriately. These include phenylalanine hydroxylase (PAH) deficiency and other inborn errors of metabolism, tuberous sclerosis complex, myotonic dystrophy, cystic fibrosis, Turner syndrome, sickle cell disease, and connective tissue disorders.     

Discordant fetal sex on NIPT and ultrasound

Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred. The widespread integration of cfDNA testing into modern antenatal screening has made sex chromosome assessment possible from 10 weeks of gestation, and discordant fetal sex is now more commonly diagnosed prenatally, with a prevalence of approximately 1 in 1500-2000 pregnancies. Early detection of phenotype-genotype sex discordance is important as it may indicate an underlying genetic, chromosomal or biochemical condition and it also allows for time-critical postnatal treatment. The aim of this article is to review cfDNA and ultrasound diagnosis of fetal sex, identify possible causes of phenotype-genotype discordance and provide a systematic approach for clinicians when counseling and managing couples in this circumstance.     

Characterization of As and trace metals embedded in PM10 particles in Puebla City, México

Forty-eight air-filter samples (PM₁₀) were analysed to identify the concentration level of partially leached metals (PLMs; As, Cd, Co, Cr, Cu, Fe, Mn, Ni, Pb and V) from Puebla City, México. Samples were collected during 2008 from four monitoring sites: (1) Tecnológico (TEC), (2) Ninfas (NIN), (3) Hermanos Serdán (HS) and (4) Agua Santa (AS). The results indicate that in TEC, As (avg. 424 ng m^?3), V (avg. 19.2 ng m^?3), Fe (avg. 1,202 ng m^?3), Cu (avg. 86.6 ng m^?3), Cr (41.9 ng m^?3) and Ni (18.6 ng m^?3) are on the higher side than other populated regions around the world. The enrichment of PLMs is due to the industrial complexes generating huge dust particles involving various operations. The results are supported by the correlation of metals (Mn, Cd and Co) with Fe indicating its anthropogenic origin and likewise, As with Cd, Co, Fe, Mn, Pb and V. The separate cluster of As, Fe and Mn clearly signifies that it is due to continuous eruption of fumaroles from the active volcano Popocatépetl in the region.     

Dissipation kinetics,safety evaluation,and assessment of pre-harvest interval (PHI) and processing factor for kresoxim methyl residues in grape

A field dissipation study was conducted to evaluate the pre-harvest interval (PHI) and processing factor (PF) for kresoxim methyl (Ergon 44.3 SC) residues in grapes and during raisin making process at recommended dose (RD) and double the recommended dose (DRD). Kresoxim methyl residues dissipated following 1st-order kinetics with a half-life of 10 and 18 days at RD and DRD, respectively. The PHIs with respect to the European Union maximum residue limit (EU-MRL) of 1 mg kg^?1 for grapes were 13 and 30 days at RD and DRD, respectively. The degradation data during grape to raisin making process were best fitted to nonlinear 1st?+?1st-order kinetics with a half-life ranging between 4 and 8 days for both shade drying and with raisin dryer at different doses. The PFs were 1.19 and 1.24 with shade drying and 1.09 and 1.10 with raisin dryer, respectively, which indicates concentration of the residues during raisin making process. The dietary exposure of kresoxim methyl on each sampling day was less than the respective maximum permissible intake both at RD and DRD. The residues of kresoxim methyl in market samples of grapes and raisins were well below the EU-MRL and were also devoid of any risk of acute toxicity related to dietary exposure.     

Remote sensing in environmental police investigations: aerial platforms and an innovative application of thermography to detect several illegal activities

Being able to identify the environmental crimes and the guilty parties is central to police investigations, and new technologies enable the authorities to do this faster and more accurately than ever before. In recent years, our research team has introduced the use of a range of aerial platforms and an innovative application of thermography to detect several illegal activities; for example, illegal sanitary sewer and storm-drain connections, illicit wastewater discharges, and other “anomalies” on surface waters can be easily identified using their thermal infrared signatures. It can also be used to detect illegal solid/liquid waste dumps or illicit air discharges. This paper introduces first results of a Thermal Pattern and Thermal Tracking approach that can be used to identify different phenomena and several pollutants. The aims of this paper were to introduce a fingerprint paradigm for environmental police investigations, defining several specific signatures (patterns) that permit the identification of an illicit/anomalous activity, and establish a procedure to use this information to find the correlation (tracking) between the crime and the culprit or the source and the target.     

Rapid survey protocol that provides dynamic information on reef condition to managers of the Great Barrier Reef

Managing to support coral reef resilience as the climate changes requires strategic and responsive actions that reduce anthropogenic stress. Managers can only target and tailor these actions if they regularly receive information on system condition and impact severity. In large coral reef areas like the Great Barrier Reef Marine Park (GBRMP), acquiring condition and impact data with good spatial and temporal coverage requires using a large network of observers. Here, we describe the result of ~10 years of evolving and refining participatory monitoring programs used in the GBR that have rangers, tourism operators and members of the public as observers. Participants complete Reef Health and Impact Surveys (RHIS) using a protocol that meets coral reef managers’ needs for up-to-date information on the following: benthic community composition, reef condition and impacts including coral diseases, damage, predation and the presence of rubbish. Training programs ensure that the information gathered is sufficiently precise to inform management decisions. Participants regularly report because the demands of the survey methodology have been matched to their time availability. Undertaking the RHIS protocol we describe involves three ~20 min surveys at each site. Participants enter data into an online data management system that can create reports for managers and participants within minutes of data being submitted. Since 2009, 211 participants have completed a total of more than 10,415 surveys at more than 625 different reefs. The two-way exchange of information between managers and participants increases the capacity to manage reefs adaptively, meets education and outreach objectives and can increase stewardship. The general approach used and the survey methodology are both sufficiently adaptable to be used in all reef regions.     

A new sampler for stratified lagoon chemical and microbiological assessments

A sampler was needed for a spatial and temporal study of microbial and chemical stratification in a large swine manure lagoon that was known to contain zoonotic bacteria. Conventional samplers were limited to collections of surface water samples near the bank or required a manned boat. A new sampler was developed to allow simultaneous collection of multiple samples at different depths, up to 2.3 m, without a manned boat. The sampler was tethered for stability, used remote control (RC) for sample collection, and accommodated rapid replacement of sterile tubing modules and sample containers. The sampler comprised a PVC pontoon with acrylic deck and watertight enclosures, for a 12 VDC gearmotor, to operate the collection module, and vacuum system, to draw samples into reusable autoclavable tubing and 250-mL bottles. Although designed primarily for water samples, the sampler was easily modified to collect sludge. The sampler held a stable position during deployment, created minimal disturbance in the water column, and was readily cleaned and sanitized for transport. The sampler was field tested initially in a shallow fresh water lake and subsequently in a swine manure treatment lagoon. Analyses of water samples from the lagoon tests showed that chemical and bacterial levels, pH, and EC did not differ between 0.04, 0.47, and 1.0 m depths, but some chemical and bacterial levels differed between winter and spring collections. These results demonstrated the utility of the sampler and suggested that future manure lagoon studies employ fewer or different depths and more sampling dates.     

Soil respiration,labile carbon pools,and enzyme activities as affected by tillage practices in a tropical rice–maize–cowpea cropping system

In order to identify the viable option of tillage practices in rice–maize–cowpea cropping system that could cut down soil carbon dioxide (CO₂) emission, sustain grain yield, and maintain better soil quality in tropical low land rice ecology soil respiration in terms of CO₂ emission, labile carbon (C) pools, water-stable aggregate C fractions, and enzymatic activities were investigated in a sandy clay loam soil. Soil respiration is the major pathway of gaseous C efflux from terrestrial systems and acts as an important index of ecosystem functioning. The CO₂–C emissions were quantified in between plants and rows throughout the year in rice–maize–cowpea cropping sequence both under conventional tillage (CT) and minimum tillage (MT) practices along with soil moisture and temperature. The CO₂–C emissions, as a whole, were 24 % higher in between plants than in rows, and were in the range of 23.4–78.1, 37.1–128.1, and 28.6–101.2 mg m^?2 h^?1 under CT and 10.7–60.3, 17.3–99.1, and 17.2–79.1 mg m^?2 h^?1 under MT in rice, maize, and cowpea, respectively. The CO₂–C emission was found highest under maize (44 %) followed by rice (33 %) and cowpea (23 %) irrespective of CT and MT practices. In CT system, the CO₂–C emission increased significantly by 37.1 % with respect to MT on cumulative annual basis including fallow. The CO₂–C emission per unit yield was at par in rice and cowpea signifying the beneficial effect of MT in maintaining soil quality and reduction of CO₂ emission. The microbial biomass C (MBC), readily mineralizable C (RMC), water-soluble C (WSC), and permanganate-oxidizable C (PMOC) were 19.4, 20.4, 39.5, and 15.1 % higher under MT than CT. The C contents in soil aggregate fraction were significantly higher in MT than CT. Soil enzymatic activities like, dehydrogenase, fluorescein diacetate, and β-glucosidase were significantly higher by 13.8, 15.4, and 27.4 % under MT compared to CT. The soil labile C pools, enzymatic activities, and heterotrophic microbial populations were in the order of maize?>?cowpea?>?rice, irrespective of the tillage treatments. Environmental sustainability point of view, minimum tillage practices in rice–maize–cowpea cropping system in tropical low land soil could be adopted to minimize CO₂–C emission, sustain yield, and maintain soil health.     

Environmental monitoring of Micro Prespa Lake basin (Western Macedonia,Greece): hydrogeochemical characteristics of water resources and quality trends

The Micro Prespa basin is a trilateral catchment area of significant importance with a unique ecosystem closely related to the homonymous lake. In this frame, a fully operational monitoring project was carried out including continuous real-time measurements in Micro Prespa Lake with the use of a multi-sensor probe, as well as periodical sampling and analyses of all available water systems for an extended set of 85 parameters. Four main interacting water systems were identified, including alluvial and karstic aquifers, Micro Prespa Lake and adjacent drainage network. The results outlined that general environmental conditions are satisfying in respect to the relative legislation and the hydrogeochemical signatures. However, trends of environmental pressures were ascertained as a result of natural (geogenic) factors, embracing seasonal peaks for Ni, Pb, and NH₄ mainly in groundwater systems. Based on chlorophyll a records, Micro Prespa is classified as oligotrophic to slightly mesotrophic, subjected to seasonal variations. Heavy metal concentrations are low, except Ni which appears to have elevated values during the dry hydrological period. Finally, the hydrogeochemistry of drainage network is primarily influenced by surface runoff of the surrounding mountainous areas, hence elevated phosphorus values of the Aghios Germanos stream are possibly linked with the leaching of the granitic formations on the east.     

Effects of pig manure containing copper and zinc on microbial community assessed via phospholipids in soils

Pig manure (PM) is widely used as an organic fertilizer to increase yields of crops. Excessive application of compost containing relatively great concentrations of copper (Cu) and zinc (Zn) can change soil quality. To clarify the effects of different rates of application and to determine the optimal rate of fertilization, PM containing 1,115 mg Cu kg^?1, dry mass (dm) and 1,497 mg Zn kg^?1, dm was applied to alkaline soil at rates of 0, 11, 22, 44, 88, and 222 g PM kg^?1, dm. Phospholipid fatty acids (PLFAs) were used to assess soil microbial community composition. Application of PM resulted in greater concentrations of total nitrogen (TN), NH₄ ⁺-N, NO₃ ^?-N, total carbon (TC), soil organic matter (SOM) but lesser pH values. Soils with application rates of 88–222 g PM kg^?1, dm had concentrations of total and EDTA-extractable Cu and Zn significantly greater than those in soil without PM, and concentrations of T-Cu and T-Zn in these amended soils exceeded maximum limits set by standards in china. Except in the soil with a rate of 11 g PM kg^?1, dm, total bacterial and fungal PLFAs were directly proportional to rate of application of PM. Biomasses of bacteria and fungi were significantly greater in soils with application rates of 44–222 g PM kg^?1, dm than in the soil without PM. SOM, TC and EDTA-Zn had the most direct influence on soil microbial communities. To improve fertility of soils and maintain quality of soil, rate of application should be 22–44 g PM kg^?1 dm, soil containing Cu and Zn.