Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. METHODS: We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. RESULTS: Our results, and previous data, show that ocular dysgenesis and hearing impairment are the two most highly penetrant phenotypes of the 6p25 deletion syndrome. While deletion of the forkhead box C1 gene (FOXC1) probably underlies the ocular dysgenesis, no gene in this region is known to be involved in hearing impairment. CONCLUSIONS: Ocular dysgenesis and hearing impairment are the two most common phenotypes of 6p25 deletion syndrome. We conclude that a locus for dominant hearing loss is present at 6p25 and that this locus is restricted to a region distal to D6S1617. Molecular characterization of more 6p25 deletion patients will aid in refinement of this locus and the identification of a gene involved in dominant hearing loss.

Properties of top soil and the relationship between soil and trees in a boreal Scots pine stand

Summary

Agricultural phosphorus and water quality : sources, transport and management

Selostus: Maatalous, fosfori ja veden laatu: alkuperä, kulkeutuminen ja vesistökuormituksen hallinta

Effects of erosion and deposition on particle size distribution of deposited farmland soils on the chinese loess plateau

Particle size distribution (PSD) in the soil profile is strongly related to erosion, deposition, and physical and chemical processes. Water cycling and plant growth are also affected by PSD. Material sedimented upstream of the dam constructions formed large areas of deposited farmland (DF) soils on the Chinese Loess Plateau (CLP), which has been the site of the most severe soil erosion in the world. Two DFs without tillage on the CLP were chosen to study the combined effect of erosion and check dams on PSD. Eighty-eight layers (each 10 cm thick) of filled deposited farmland (FDF) soils and 22 layers of silting deposited farmland (SDF) soils of each studied soil profile were collected and 932 soil samples were investigated using laser granulometry. The particle sizes were stratified in both DFs based on soil properties and erosion resistance. The obtained results of clay and silt fractions showed similar horizontal distribution, indicating parallel characteristics of erosion and deposition processes. Fine sand represented the largest fraction, suggesting the preferential detachment of this fraction. The most erodible range of particle sizes was 0.25-0.5 mm, followed by 0.2-0.25 mm in the studied soil profiles. The correlation between particle size and soil water contents tended to increase with increasing water contents in FDF. Due to the abundant shallow groundwater, the relationship between particle size and soil water content in SDF was lost. Further studies on PSD in the DF area are needed to enhance the conservation management of soil and water resources in this region.

Mapping, organic matter mass and water volume of a peatland in Serra do Espinhaço Meridional

Peatlands form in areas where net primary of organic matter production exceeds losses due to the decomposition, leaching or disturbance. Due to their chemical and physical characteristics, bogs can influence water dynamics because they can store large volumes of water in the rainy season and gradually release this water during the other months of the year. In Diamantina, Minas Gerais, Brazil, a peatland in the environmental protection area of Pau-de-Fruta ensures the water supply of 40,000 inhabitants. The hypothesis of this study is that the peat bogs in Pau-de-Fruta act as an environment for carbon storage and a regulator of water flow in the Córrego das Pedras basin. The objective of this study was to estimate the water volume and organic matter mass in this peatland and to study the influence of this environment on the water flow in the Córrego das Pedras basin. The peatland was mapped using 57 transects, at intervals of 100 m. Along all transects, the depth of the peat bog, the Universal Transverse Mercator (UTM) coordinates and altitude were recorded every 20 m and used to calculate the area and volume of the peatland. The water volume was estimated, using a method developed in this study, and the mass of organic matter based on samples from 106 profiles. The peatland covered 81.7 hectares (ha), and stored 497,767 m³ of water, representing 83.7 % of the total volume of the peat bog. The total amount of organic matter (OM) was 45,148 t, corresponding to 552 t ha-1 of OM. The peat bog occupies 11.9 % of the area covered by the Córrego das Pedras basin and stores 77.6 % of the annual water surplus, thus controlling the water flow in the basin and consequently regulating the water course.

Spatial and linear correlations between soil and corn

The Technologies setting at Agricultural production system have the main characteristics the vertical productivity, reduced costs, soil physical, chemical and biological improvement to promote production sustainable growth. Thus, the study aimed to determine the variability and the linear and special correlations between the plant and soil attributes in order to select and indicate good representation of soil physical quality for forage productivity. In the growing season of 2006, on the Fazenda Bonança in Pereira Barreto (SP), the productivity of autumn corn forage (FDM) in an irrigated no-tillage system and the soil physical properties were analyzed. The purpose was to study the variability and the linear and spatial correlations between the plant and soil properties, to select an indicator of soil physical quality related to corn forage yield. A geostatistical grid was installed to collect soil and plant data, with 125 sampling points in an area of 2,500 m². The results show that the studied properties did not vary randomly and that data variability was low to very high, with well-defined spatial patterns, ranging from 7.8 to 38.0 m. On the other hand, the linear correlation between the plant and the soil properties was low and highly significant. The pairs forage dry matter versus microporosity and stem diameter versus bulk density were best correlated in the 0-0.10 m layer, while the other pairs - forage dry matter versus macro - and total porosity - were inversely correlated in the same layer. However, from the spatial point of view, there was a high inverse correlation between forage dry matter with microporosity, so that microporosity in the 0-0.10 m layer can be considered a good indicator of soil physical quality, with a view to corn forage yield.

Soil and phytosociological characterization of an area with predominance of arnica (Lychnophora pohlii sch. bip.)

Lychnophora pohlii Sch. Bip. (Asteraceae), known as "Arnica mineira", is widely used in folk medicine and very abundant in the altitude vegetation of rocky grassland. The aim of this work was to study the density of this species and its relationship with soil parameters in rocky grassland in Diamantina, in the Upper Jequitinhonha region, Minas Gerais. Ten contiguous 20 x 50 m plots were marked (total sampled area 10,000 m²) on the campus Juscelino Kubitschek of the Federal University of Jequitinhonha and Mucuri Valleys (UFVJM). The plants in these plots were evaluated for frequency, dominance and density. The relationship between the density of this species with nine soil physical and chemical properties was analyzed by means of canonical correspondence analysis (CCA). The highest plant abundance (I) of the species Lychnophora pohlii Sch. Bip. was found in the vegetation sampling areas: plot 6 with 255 plants, plot 7 with 173, plot 8 with 189, plot 9 with 159, and plot 1 with 151 plants. In these areas, the floristic soil characteristics were similar, resulting in spatial proximity in the ACC diagrams. The density of Lychnophora pohlii was higher in plots with higher pH, P-rem and base saturation, the variables most strongly correlated with the first axis of canonical correspondence analysis.

Institutional landmarks in Brazilian research on soil erosion: a historical overview

The problem of soil erosion in Brazil has been a focus of agricultural scientific research since the 19th century. The aim of this study was to provide a historical overview of the institutional landmarks which gave rise to the first studies in soil erosion and established the foundations of agricultural research in Brazil. The 19th century and beginning of the 20th century saw the founding of a series of institutions in Brazil, such as Botanical Gardens, executive institutions, research institutes, experimental stations, educational institutions of agricultural sciences, as well as the creation and diversification of scientific journals. These entities, each in its own way, served to foster soil erosion research in Brazil. During the Imperial period (1808-1889), discussions focused on soil degradation and conserving the fertility of agricultural land. During the First Republic (1889-1930), with the founding of various educational institutions and consolidation of research on soil degradation conducted by the Agronomic Institute of Campinas in the State of São Paulo, studies focused on soil depletion, identification of the major factors causing soil erosion and the measures necessary to control it. During the New State period (1930-1945), many soil conservation practices were developed and disseminated to combat erosion and field trials were set up, mainly to measure soil and water losses induced by hydric erosion. During the Brazilian New Republic (1945-1964), experiments were conducted throughout Brazil, consolidating soil and water conservation as one of the main areas of Soil Science in Brazil. This was followed by scientific conferences on erosion and the institutionalization of post-graduate studies. During the Military Regime (1964-1985), many research and educational institutions were founded, experimental studies intensified, and coincidently, soil erosion reached alarming levels which led to the development of the no-tillage system.

Sensitivity of temperate grassland species to elevated atmospheric CO2 and the interaction with temperature and water stress

Selostus: Kohonneen hiilidioksidipitoisuuden, lämpötilan ja kuivuuden vaikutus nurmikasveihin

Effects of Pig Slurry Application and Crops on Phosphorus Content in Soil and the Chemical Species in Solution

The application of pig slurry rates and plant cultivation can modify the soil phosphorus (P) content and distribution of chemical species in solution. The purpose of this study was to evaluate the total P, available P and P in solution, and the distribution of chemical P species in solution, in a soil under longstanding pig slurry applications and crop cultivation. The study was carried out in soil columns with undisturbed structure, collected in an experiment conducted for eight years in the experimental unit of the Universidade Federal de Santa Maria (UFSM), Santa Maria (RS). The soil was an Argissolo Vermelho distrófico arênico (Typic Hapludalf), subjected to applications of 0, 20, 40, and 80 m3 ha-1 pig slurry. Soil samples were collected from the layers 0-5, 5-10, 10-20, 20-30, 30-40, and 40-60 cm, before and after black oat and maize grown in a greenhouse, for the determination of available P, total P and P in the soil solution. In the solution, the concentration of the major cations, anions, dissolved organic carbon (DOC), and pH were determined. The distribution of chemical P species was determined by software Visual Minteq. The 21 pig slurry applications increased the total P content in the soil to a depth of 40 cm, and the P extracted by Mehlich-1 and from the solution to a depth of 30 cm. Successive applications of pig slurry changed the balance between the solid and liquid phases in the surface soil layers, increasing the proportion of the total amount of P present in the soil solution, aside from changing the chemical species in the solution, reducing the percentage complexed with Al and increasing the one complexed with Ca and Mg in the layers 0-5 and 5-10 cm. Black oat and maize cultivation increased pH in the solution, thereby increasing the proportion of HPO42- and reducing H2PO4- species.

Contrasts in Areas of Rubber Tree Clones in Regard to Soil and Biomass Carbon Stocks

ABSTRACT Rubber tree (Hevea brasiliensis) crop may accumulate significant amounts of carbon either in biomass or in the soil. However, a comprehensive understanding of the potential of the C stock among different rubber tree clones is still distant, since clones are typically developed to exhibit other traits, such as better yield and disease tolerance. Thus, the aim of this study was to address differences among different areas planted to rubber clones. We hypothesized that different rubber tree clones, developed to adapt to different environmental and biological constrains, diverge in terms of soil and plant biomass C stocks. Clones were compared in respect to soil C stocks at four soil depths and the total depth (0.00-0.05, 0.05-0.10, 0.10-0.20, 0.20-0.40, and 0.00-0.40 m), and in the different compartments of the tree biomass. Five different plantings of rubber clones (FX3864, FDR 5788, PMB 1, MDX 624, and CDC 312) of seven years of age were compared, which were established in a randomized block design in the experimental field in Rio de Janeiro State. No difference was observed among plantings of rubber tree clones in regard to soil C stocks, even considering the total stock from 0.00-0.40 m depth. However, the rubber tree clones were different from each other in terms of total plant C stocks, and this contrast was predominately due to only one component of the total C stock, tree biomass. For biomass C stock, the MDX 624 rubber tree clone was superior to other clones, and the stem was the biomass component which most accounted for total C biomass. The contrast among rubber clones in terms of C stock is mainly due to the biomass C stock; the aboveground (tree biomass) and the belowground (soil) compartments contributed differently to the total C stock, 36.2 and 63.8 %, respectively. Rubber trees did not differ in relation to C stocks in the soil, but the right choice of a rubber clone is a reliable approach for sequestering C from the air in the biomass of trees.

Do Rates and Splitting of Phosphogypsum Applications Influence the Soil and Annual Crops in a No-Tillage System?

ABSTRACT Applications of phosphogypsum (PG) provide nutrients to the soil and reduce Al3+ activity, favoring soil fertility and root growth, but allow Mg2+ mobilization through the soil profile, resulting in variations in the PG rate required to achieve the optimum crop yield. This study evaluated the effect of application rates and splitting of PG on soil fertility of a Typic Hapludox, as well as the influence on annual crops under no-tillage. Using a (4 × 3) + 1 factorial structure, the treatments consisted of four PG rates (3, 6, 9, and 12 Mg ha-1) and three split applications (P1 = 100 % in 2009; P2 = 50+50 % in 2009 and 2010; P3 = 33+33+33 % in 2009, 2010 and 2011), plus a control without PG. The soil was sampled six months after the last PG application, in stratified layers to a depth of 0.8 m. Corn, wheat and soybean were sown between November 2011 and December 2012, and leaf samples were collected for analysis when at least 50 % of the plants showed reproductive structures. The application of PG increased Ca2+ concentrations in all sampled soil layers and the soil pH between 0.2 and 0.8 m, and reduced the concentrations of Al3+ in all layers and of Mg2+ to a depth of 0.6 m, without any effect of splitting the applications. The soil Ca/Mg ratio increased linearly to a depth of 0.6 m with the rates and were found to be higher in the 0.0-0.1 m layer of the P2 and P3 treatments than without splitting (P1). Sulfur concentrations increased linearly by application rates to a depth of 0.8 m, decreasing in the order P3>P2>P1 to a depth of 0.4 m and were higher in the treatments P3 and P2 than P1 between 0.4-0.6 m, whereas no differences were observed in the 0.6-0.8 m layer. No effect was recorded for K, P and potential acidity (H+Al). The leaf Ca and S concentration increased, while Mg decreased for all crops treated with PG, and there was no effect of splitting the application. The yield response of corn to PG rates was quadratic, with the maximum technical efficiency achieved at 6.38 Mg ha-1 of PG, while wheat yield increased linearly in a growing season with a drought period. Soybean yield was not affected by the PG rate, and splitting had no effect on the yield of any of the crops. Phosphogypsum improved soil fertility in the profile, however, Mg2+ migrated downwards, regardless of application splitting. Splitting the PG application induced a higher Ca/Mg ratio in the 0.0-0.1 m layer and less S leaching, but did not affect the crop yield. The application rates had no effect on soybean yield, but were beneficial for corn and, especially, for wheat, which was affected by a drought period during growth.

Nitric oxide synthase (NOS) inhibition for one week improves renal sodium and water excretion in cirrhotic rats with ascites

Normalization of the increased vascular nitric oxide (NO) generation with low doses of NG-nitro-L-arginine methyl ester (L-NAME) corrects the hemodynamic abnormalities of cirrhotic rats with ascites. We have undertaken this study to investigate the effect of the normalization of vascular NO production, as estimated by aortic cyclic guanosine monophosphate (cGMP) concentration and endothelial nitric oxide synthase (eNOS) protein expression in the aorta and mesenteric artery, on sodium and water excretion. Rats with carbon tetrachloride-induced cirrhosis and ascites were investigated using balance studies. The cirrhotic rats were separated into two groups, one receiving 0.5 mg/kg per day of L-NAME (CIR-NAME) during 7 d, whereas the other group (CIR) was administrated the same volume of vehicle. Two other groups of rats were used as controls, one group treated with L-NAME and another group receiving the same volume of vehicle. Sodium and water excretion was measured on days 0 and 7. On day 8, blood samples were collected for electrolyte and hormone measurements, and aorta and mesenteric arteries were harvested for cGMP determination and nitric oxide synthase (NOS) immunoblotting. Aortic cGMP and eNOS protein expression in the aorta and mesenteric artery were increased in CIR as compared with CIR-NAME. Both cirrhotic groups had a similar decrease in sodium excretion on day 0 (0.7 versus 0.6 mmol per day, NS) and a positive sodium balance (+0.9 versus +1.2 mmol per day, NS). On day 7, CIR-NAME rats had an increase in sodium excretion as compared with the CIR rats (sodium excretion: 2.4 versus 0.7 mmol per day, P < 0.001) and a negative sodium balance (-0.5 versus +0.8 mmol per day, P < 0.001). The excretion of a water load was also increased after L-NAME administration (from 28+/-5% to 65+/-7, P < 0.05). Plasma renin activity, aldosterone and arginine vasopressin were also significantly decreased in the CIR-NAME, as compared with the CIR rats. The results thus indicate that normalization of aortic cGMP and eNOS protein expression in vascular tissue is associated with increased sodium and water excretion in cirrhotic rats with ascites.

First day of an oil spill on the open sea: early mass transfers of hydrocarbons to air and water.

During the first hours after release of petroleum at sea, crude oil hydrocarbons partition rapidly into air and water. However, limited information is available about very early evaporation and dissolution processes. We report on the composition of the oil slick during the first day after a permitted, unrestrained 4.3 m(3) oil release conducted on the North Sea. Rapid mass transfers of volatile and soluble hydrocarbons were observed, with >50% of ≤C17 hydrocarbons disappearing within 25 h from this oil slick of <10 km(2) area and <10 μm thickness. For oil sheen, >50% losses of ≤C16 hydrocarbons were observed after 1 h. We developed a mass transfer model to describe the evolution of oil slick chemical composition and water column hydrocarbon concentrations. The model was parametrized based on environmental conditions and hydrocarbon partitioning properties estimated from comprehensive two-dimensional gas chromatography (GC×GC) retention data. The model correctly predicted the observed fractionation of petroleum hydrocarbons in the oil slick resulting from evaporation and dissolution. This is the first report on the broad-spectrum compositional changes in oil during the first day of a spill at the sea surface. Expected outcomes under other environmental conditions are discussed, as well as comparisons to other models.

Iowa Maternal and Child Health Comprehensive Title V Assets and Needs Assessment, July 15, 2010

The Iowa Department of Public Health Bureau of Family Health and the Child Health Specialty Clinics embarked on a five-year needs assessment in March 2008 with a daylong strategic planning session involving key administrative and staff personnel from both agencies. As part of the strategic planning, the participants began preparation of a comprehensive assessment to identify the need in Iowa for: preventive and primary care services for pregnant women, mothers, and infants; preventive and primary care services for children; and services for children and youth with special health care needs.