Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency

CONTEXT: A polymorphism of the GH receptor (GHR) gene resulting in genomic deletion of exon 3 (GHR-d3) has been associated with responsiveness to GH therapy. However, the data reported so far do vary according to the underlying condition, replacement dose, and duration of the treatment. OBJECTIVE, DESIGN: The aim of this study was to analyze the impact of the GHR genotypes in terms of the initial height velocity (HV) resulting from treatment and the impact upon adult height in patients suffering from severe isolated GH deficiency. CONTROLS, PATIENTS, SETTING: A total of 181 subjects (peak stimulated GHheight were analyzed. MAIN OUTCOME MEASURES, RESULTS: In the 181 subjects after the first two yr on recombinant human GH treatment, HV sd score (SDS) as well as height gain were significantly greater in subjects with the GHR-d3/d3 genotype when compared with the subjects presenting with the GHR-full-length/full-length genotype (P<0.05). A GHR-d3 allele dose-dependent effect was found for both HV SDS (r=0.72) and height gain (r=0.77). However, there was no significant difference in final adult height and height SDS according to the exon-3 genotypes. CONCLUSIONS: Our results indicate that in patients with severe isolated GH deficiency, although the GHR genotype might play a role in GH responsiveness, at least at the beginning of treatment, there is no effect on final height.

Pollen dispersal properties of Poaceae and Cyperaceae: First estimates of their absolute pollen productivities

Pollen-trap results from the Swiss Alps 1996–2009 were used to assess the pollen dispersal–deposition properties of Poaceae (grasses) and Cyperaceae (sedges). Dispersal parameter values were investigated for a modified version of the Prentice–Sugita pollen dispersal–deposition model. Appropriate values (i.e. realistic in the field and allowing realistic modelling results) for wind speed are suggested to be in the range of 3–7 m s− 1 and for pollen an injection height of 0.03–0.1 m above the ground. The appropriate range of pollen injection height values for grasses and sedges differs from that of trees in the same area, suggesting different pollen dispersal properties between herbs and trees. In addition, logarithmic weighting of the vegetation was tested as an alternative to the modified Prentice–Sugita model. This yielded very similar results, suggesting that the use of such much simpler approximations of the pollen–vegetation relationship is a plausible alternative. Based on the modified Prentice–Sugita model, absolute pollen productivity for Poaceae was estimated to 7300 ± 400 grains cm− 2 year− 1 (1 SE). The data basis for Cyperaceae is smaller than for Poaceae, but the dispersal parameter values determined as appropriate for Poaceae yield good results. Absolute pollen productivity for Cyperaceae was estimated to 6300 ± 1100 grains cm− 2 year− 1 (1 SE).

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses

The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses.

Body Height Estimation from Femur Measurements in Postmortem Computed Tomography

After attending this presentation, attendees will: (1) understand how body height from computed tomography data can be estimated; and, (2) gain knowledge about the accuracy of estimated body height and limitations. The presentation will impact the forensic science community by providing knowledge and competence which will enable attendees to develop formulas for single bones to reconstruct body height using postmortem Computer Tomography (p-CT) data. The estimation of Body Height (BH) is an important component of the identification of corpses and skeletal remains. Stature can be estimated with relative accuracy via the measurement of long bones, such as the femora. Compared to time-consuming maceration procedures, p-CT allows fast and simple measurements of bones. This study undertook four objectives concerning the accuracy of BH estimation via p-CT: (1) accuracy between measurements on native bone and p-CT imaged bone (F1 according to Martin 1914); (2) intra-observer p-CT measurement precision; (3) accuracy between formula-based estimation of the BH and conventional body length measurement during autopsy; and, (4) accuracy of different estimation formulas available.1 In the first step, the accuracy of measurements in the CT compared to those obtained using an osteometric board was evaluated on the basis of eight defleshed femora. Then the femora of 83 female and 144 male corpses of a Swiss population for which p-CTs had been performed, were measured at the Institute of Forensic Medicine in Bern. After two months, 20 individuals were measured again in order to assess the intraobserver error. The mean age of the men was 53±17 years and that of the women was 61±20 years. Additionally, the body length of the corpses was measured conventionally. The mean body length was 176.6±7.2cm for men and 163.6±7.8cm for women. The images that were obtained using a six-slice CT were reconstructed with a slice thickness of 1.25mm. Analysis and measurements of CT images were performed on a multipurpose workstation. As a forensic standard procedure, stature was estimated by means of the regression equations by Penning & Riepert developed on a Southern German population and for comparison, also those referenced by Trotter & Gleser “American White.”2,3 All statistical tests were performed with a statistical software. No significant differences were found between the CT and osteometric board measurements. The double p-CT measurement of 20 individuals resulted in an absolute intra-observer difference of 0.4±0.3mm. For both sexes, the correlation between the body length and the estimated BH using the F1 measurements was highly significant. The correlation coefficient was slightly higher for women. The differences in accuracy of the different formulas were small. While the errors of BH estimation were generally ±4.5–5.0cm, the consideration of age led to an increase in accuracy of a few millimetres to about 1cm. BH estimations according to Penning & Riepert and Trotter & Gleser were slightly more accurate when age-at-death was taken into account.2,3 That way, stature estimations in the group of individuals older than 60 years were improved by about 2.4cm and 3.1cm.2,3 The error of estimation is therefore about a third of the common ±4.7cm error range. Femur measurements in p-CT allow very accurate BH estimations. Estimations according to Penning led to good results that (barely) come closer to the true value than the frequently used formulas by Trotter & Gleser “American White.”2,3 Therefore, the formulas by Penning & Riepert are also validated for this substantial recent Swiss population.

What Does Height Really Mean? Part III: Height Systems

This is the third paper in a four-part series considering the fundamental question, “what does the word “height” really mean?” The first paper reviewed reference ellipsoids and mean sea level datums. The second paper reviewed the physics of heights culminating in a simple development of the geoid and explained why mean sea level stations are not all at the same orthometric height. This third paper develops the principle notions of height, namely measured, differentially deduced changes in elevation, orthometric heights, Helmert orthometric heights, normal orthometric heights, dynamic heights, and geopotential numbers. We conclude with a more in-depth discussion of current thoughts regarding the geoid.

Environmental observations from Station Ssagastyr during the first International Polar Year 1882/83 (digitized tables)

Vorliegender Band enthält die für alle internationalen Polarstationen obligatorischen meteorologischen Beobachtungen der russischen Polarstation an der Lenamündung für den Zeitraum vom 1. September 1882 bis 31. August 1883 und vom 1. September 1883 bis zum 6. Juli 1884.

First record of Antipathella subpinnata in the Azores

The first record of Antipathella subpinnata ( Ellis and Solander, 1786) for the Azores archipelago is presented based on bottom longline by-catch analysis and ROV seafloor surveys, extending the species western-most boundary of distribution in the NE Atlantic. The species was determined using classic taxonomy and molecular analysis targeting nuclear DNA. Although maximum spine height on Azorean colonies branchlets is slightly smaller than that reported from Mediterranean colonies (0.12 vs 0.16 mm), the analysis of partial 18S rDNA, complete ITS1, 5.8S, ITS2 and partial 28S rDNA suggests that the Azorean and Mediterranean specimens belong to the same species. Video surveys of an A. subpinnata garden detected near Pico Island are used to provide the first in situ description of the species habitat in the region and the first detailed description of a black coral garden in the NE Atlantic. With A. subpinnata being the only coral found between 150 and 196 m depths, this is the deepest black coral garden recorded in the NE Atlantic and the first one to be monospecific. The species exhibited a maximum density of 2.64 colonies/m**2 and occurred across a surface area estimated at 67,333 m**2, yielding a local population estimate of 50,500 colonies.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2015S22, deployed during the Norwegian Young sea ICE cruise (N-ICE 2015) project

Snow height was measured by the Snow Depth Buoy 2015S22, an autonomous platform, drifting on Arctic sea ice, deployed during the Norwegian Young sea ICE cruise (N-ICE 2015) project. The resulting time series describes the evolution of snow depth as a function of place and time between 2015-03-01 and 2015-05-06 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow depth, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow depth occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow depth may still be used for sea ice drift analyses.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2015S26, deployed during the Norwegian Young sea ICE cruise (N-ICE 2015) project

Snow height was measured by the Snow Depth Buoy 2015S26, an autonomous platform, drifting on Arctic sea ice, deployed during the Norwegian Young sea ICE cruise (N-ICE 2015) project. The resulting time series describes the evolution of snow depth as a function of place and time between 2015-01-24 and 2015-02-21 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow depth, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow depth occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow depth may still be used for sea ice drift analyses.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2015S18, deployed during POLARSTERN cruise ANT-XXX/2 (PS89)

Snow height was measured by the Snow Depth Buoy 2015S18, an autonomous platform, drifting on Antarctic sea ice, deployed during POLARSTERN cruise ANT-XXX/2 (PS89). The resulting time series describes the evolution of snow depth as a function of place and time between 2015-01-03 and 2015-01-18 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow depth, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow depth occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow depth may still be used for sea ice drift analyses.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2013S6, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81)

Snow height was measured by the Snow Depth Buoy 2013S6, an autonomous platform, drifting on Antarctic sea ice, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81). The resulting time series describes the evolution of snow height as a function of place and time between 2013-06-24 and 2013-09-27 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow height, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow height occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow height may still be used for sea ice drift analyses.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2013S8, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81)

Snow height was measured by the Snow Depth Buoy 2013S8, an autonomous platform, drifting on Antarctic sea ice, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81). The resulting time series describes the evolution of snow height as a function of place and time between 2013-07-09 and 2014-01-05 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow height, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow height occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow height may still be used for sea ice drift analyses.

Snow height on sea ice and sea ice drift from autonomous measurements from buoy 2013S7, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81)

Snow height was measured by the Snow Depth Buoy 2013S7, an autonomous platform, drifting on Antarctic sea ice, deployed during POLARSTERN cruise ANT-XXIX/6 (PS81). The resulting time series describes the evolution of snow height as a function of place and time between 2013-07-06 and 2013-09-13 in sample intervals of 1 hour. The Snow Depth Buoy consists of four independent sonar measurements representing the area (approx. 10 m**2) around the buoy. The buoy was installed on first year ice. In addition to snow height, geographic position (GPS), barometric pressure, air temperature, and ice surface temperature were measured. Negative values of snow height occur if surface ablation continues into the sea ice. Thus, these measurements describe the position of the sea ice surface relative to the original snow-ice interface. Differences between single sensors indicate small-scale variability of the snow pack around the buoy. The data set has been processed, including the removal of obvious inconsistencies (missing values). Records without any snow height may still be used for sea ice drift analyses.