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The Rh system, including the highly immunogenic D antigen, is one of the clinically most important blood group systems in transfusion medicine. Numerous alleles of the RHD gene are associated with variant RhD phenotypes. In case of Rh incompatibility, some of them can induce hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. Thus, accurate blood group diagnostics are critical for safe transfusion therapy. We characterized phenotypes of four individuals revealing weakened D expression during routine pre-transfusion testing. Standard gel card matrix techniques with monoclonal and polyclonal anti-D antibodies were used for serological typing, complemented using D epitope and antigen density analysis. Genotyping employing PCR with sequence-specific primers, genomic and allele-specific Sanger sequencing and in silico protein analysis were performed. Four novel RHD alleles associated with weak D or partial D phenotypes were identified. One of the mutations is predicted to disrupt the terminal stop codon and result in an elongated translation of the mutant D protein that phenotypically exhibits a loss of D epitopes. Furthermore, a hybrid gene formed with the homologue RHCE gene is described. The presented data enhances the understanding of the Rh system and may contribute to continued advances in blood group diagnostics.

Summary: Routine ABO blood group typing of apparently healthy individuals sporadically uncovers unexplained mixed‐field reactions. Such blood group discrepancies can either result from a haematopoiesis‐confined or body‐wide dispersed chimerism or mosaicism. Taking the distinct clinical consequences of these four different possibilities into account, we explored the responsible cause in nine affected individuals. Genotype analyses revealed that more than three‐quarters were chimaeras (two same‐sex females, four same‐sex males, one sex‐mismatched male), while two were mosaics. Short tandem repeat analyses of buccal swab, hair root and nail DNA suggested a body‐wide involvement in all instances. Moreover, genome‐wide array analyses unveiled that in both mosaic cases the causative genetic defect was a unique copy‐neutral loss of heterozygosity encompassing the entire long arm of chromosome 9. The practical transfusion‐ or transplantation‐associated consequences of such incidental discoveries are well known and therefore easily manageable. Far less appreciated is the fact that such findings also call attention to potential problems that directly ensue from their specific genetic make‐up. In case of chimerism, these are the appearance of seemingly implausible family relationships and pitfalls in forensic testing. In case of mosaicism, they concern with the necessity to delineate innocuous pre‐existent or age‐related from disease‐predisposing and disease‐indicating cell clones. [ABSTRACT FROM AUTHOR]

Ponds and lakes are abundant in Arctic permafrost lowlands. They play an important role in Arctic wetland ecosystems by regulating carbon, water, and energy fluxes and providing freshwater habitats. However, ponds, i.e., waterbodies with surface areas smaller than 1. 0 × 104ĝ€m2, have not been inventoried on global and regional scales. The Permafrost Region Pond and Lake (PeRL) database presents the results of a circum-Arctic effort to map ponds and lakes from modern (2002-2013) high-resolution aerial and satellite imagery with a resolution of 5ĝ€m or better. The database also includes historical imagery from 1948 to 1965 with a resolution of 6ĝ€m or better. PeRL includes 69 maps covering a wide range of environmental conditions from tundra to boreal regions and from continuous to discontinuous permafrost zones. Waterbody maps are linked to regional permafrost landscape maps which provide information on permafrost extent, ground ice volume, geology, and lithology. This paper describes waterbody classification and accuracy, and presents statistics of waterbody distribution for each site. Maps of permafrost landscapes in Alaska, Canada, and Russia are used to extrapolate waterbody statistics from the site level to regional landscape units. PeRL presents pond and lake estimates for a total area of 1. 4 × 106ĝ€km2 across the Arctic, about 17ĝ€% of the Arctic lowland ( < ĝ€300ĝ€mĝ€a.s.l.) land surface area. PeRL waterbodies with sizes of 1. 0 × 106ĝ€m2 down to 1. 0 × 102ĝ€m2 contributed up to 21ĝ€% to the total water fraction. Waterbody density ranged from 1. 0 × 10 to 9. 4 × 101ĝ€kmĝ'2. Ponds are the dominant waterbody type by number in all landscapes representing 45-99ĝ€% of the total waterbody number. The implementation of PeRL size distributions in land surface models will greatly improve the investigation and projection of surface inundation and carbon fluxes in permafrost lowlands. Waterbody maps, study area boundaries, and maps of regional permafrost landscapes including detailed metadata are available at https://doi.pangaea.de/10.1594/PANGAEA.868349.

Rationale: Passenger lymphocyte syndrome (PLS) may complicate minor ABO mismatched lung transplantation (LuTX) via donor-derived red cell antibody-induced hemolysis. Objectives: To ascertain the incidence and specificity of PLS-relevant antibodies among the study population as well as the dynamics of hemolysis parameters and the transfusion requirement of patients with or without PLS. Methods: In this cohort study, 1,011 patients who received LuTX between January 2010 and June 2019 were studied retrospectively. Prospectively, 87 LuTX (July 2019 to June 2021) were analyzed. Postoperative ABO antibody and hemolytic marker determinations, transfusion requirement, and duration of postoperative hospital care were analyzed. Retrospectively, blood group A recipients of O grafts with PLS were compared with those without. Measurements and Main Results: PLS affected 18.18% (retrospective) and 30.77% (prospective) of A recipients receiving O grafts, 5.13% of B recipients of O grafts, and 20% of AB patients receiving O transplants. Anti-A and anti-A1 were the predominant PLS-inducing antibodies, followed by anti-B and anti-A,B. Significantly lower hemoglobin values (median, 7.4 vs. 8.3 g/dl; P = 0.0063) and an approximately twice as high percentage of patients requiring blood transfusions were seen in PLS. No significant differences in other laboratory markers, duration of hospital stay, or other complications after LuTX were registered. Conclusions: Minor ABO incompatible LuTX recipients are at considerable risk of developing clinically significant PLS. Post-transplant monitoring combining red cell serology and hemolysis marker determination appears advisable so as not to overlook hemolytic episodes that necessitate antigen-negative transfusion therapy. [ABSTRACT FROM AUTHOR]

BackgroundA typical genetical genomics experiment results in four separate data sets; genotype, gene expression, higher-order phenotypic data and metadata that describe the protocols, processing and the array platform. Used in concert, these data sets provide the opportunity to perform genetic analysis at a systems level. Their predictive power is largely determined by the gene expression dataset where tens of millions of data points can be generated using currently available mRNA profiling technologies. Such large, multidimensional data sets often have value beyond that extracted during their initial analysis and interpretation, particularly if conducted on widely distributed reference genetic materials. Besides quality and scale, access to the data is of primary importance as accessibility potentially allows the extraction of considerable added value from the same primary dataset by the wider research community. Although the number of genetical genomics experiments in different plant species is rapidly increasing, none to date has been presented in a form that allows quick and efficient on-line testing for possible associations between genes, loci and traits of interest by an entire research community.DescriptionUsing a reference population of 150 recombinant doubled haploid barley lines we generated novel phenotypic, mRNA abundance and SNP-based genotyping data sets, added them to a considerable volume of legacy trait data and entered them into the GeneNetwork http://www.genenetwork.org. GeneNetwork is a unified on-line analytical environment that enables the user to test genetic hypotheses about how component traits, such as mRNA abundance, may interact to condition more complex biological phenotypes (higher-order traits). Here we describe these barley data sets and demonstrate some of the functionalities GeneNetwork provides as an easily accessible and integrated analytical environment for exploring them.ConclusionBy integrating barley genotypic, phenotypic and mRNA abundance data sets directly within GeneNetwork's analytical environment we provide simple web access to the data for the research community. In this environment, a combination of correlation analysis and linkage mapping provides the potential to identify and substantiate gene targets for saturation mapping and positional cloning. By integrating datasets from an unsequenced crop plant (barley) in a database that has been designed for an animal model species (mouse) with a well established genome sequence, we prove the importance of the concept and practice of modular development and interoperability of software engineering for biological data sets.

Spontaneous Rh blood group changes are a striking sign, reported to occur mainly in patients with hematologic disorders. Upon routine blood grouping, 2 unrelated individuals showed unexplained mixed red cell phenotype regarding the highly immunogenic c antigen (RH4), clinically relevant for blood transfusion and fetomaternal incompatibility. About half of their red cells were c-positive, whereas the other half were c-negative. These apparently hematologically healthy females had no history of transfusion or transplantation, and they tested negative for chimerism. Genotyping of flanking chromosome 1 microsatellites in blood, finger nails, hair, leukocyte subpopulations, and erythroid progenitor cells showed partial loss of heterozygosity encompassing the RHD/RHCE loci, spanning a 1p region of 26.7 or 42.4 Mb, respectively. Remarkably, in one case this was detected in all investigated tissues, whereas in the other, exclusively myeloid cells showed loss of heterozygosity. Both carried the RhD-positive haplotypes CDe and the RhD-negative haplotype cde. RHD/RHCE genotypes of single erythroid colonies and dual-color fluorescent in situ hybridization analyses indicated loss of the cde haplotype and duplication of the CDe haplotype in the altered cell line. Accordingly, red cell C antigen (RH2) levels of both propositae were higher than those of heterozygous controls. Taken together, the Rhc phenotype splitting appeared to be caused by deletion of a part of 1p followed by duplication of homologous stretches of the sister chromosome. In one case, this phenomenon was confined to myeloid stem cells, while in the other, a pluripotent stem cell line was affected, demonstrating somatic mosaicism at different stages of ontogenesis.

This article, published in the Journal of the European Academy of Dermatology & Venereology, presents a case report on the rapid clinical improvement of refractory subacute cutaneous lupus erythematosus (SCLE) with the use of the oral tyrosine kinase 2 inhibitor deucravacitinib. The report highlights the challenges in treating severe cases of cutaneous lupus erythematosus (CLE) and discusses the potential of januskinase inhibition as an alternative therapy. The case study describes a 56-year-old Vietnamese patient with SCLE who showed significant improvement in symptoms after starting deucravacitinib treatment. The authors suggest that further research is needed to explore the safety, effectiveness, and tolerability of deucravacitinib in managing patients with SCLE. [Extracted from the article]

Availability of alcohol-based hand rub (ABHR) dispensers at positions adapted to the work flow of healthcare workers (HCWs) is decisive in order to carry out indication-based hand rubbing. Although requirements and guidelines regarding the positioning of ABHR dispensers are in place, scientific evidence is often lacking. In order to analyse the impact of the location and number of ABHR dispensers on hand hygiene performance, additional dispensers were systematically placed in patient rooms in a surgical 38-bed ward at Marburg University Hospital, Germany to complement the existing dispenser locations. ABHR use was monitored continuously before and after complementation using the NosoEx hand hygiene monitoring system. The ward had 53 dispensers before the intervention and 82 dispensers after the intervention. The addition of dispensers increased ABHR consumption across the entire ward. Before the intervention, mean consumption was 20.6 mL/patient-day, whereas mean consumption after the intervention was 25.3 mL/patient-day. Depending on the combination of dispenser locations, consumption increased through targeted supplementation in patient rooms. The presence of two or three dispensers per patient room resulted in significantly greater ABHR consumption compared with one dispenser per patient room. The preferred location combinations were entrance–front bed–back bed and entrance–foot end. ABHR consumption can be increased significantly by optimizing the position and number of dispensers. The outstanding factors are visibility and integrability of dispenser use into the work flow; in particular, a dispenser should be positioned in the entrance area. Recommendations should be optimized with regard to the required number and location of dispensers in patient rooms. [ABSTRACT FROM AUTHOR]

This paper discusses the potential of deterministic wave prediction as one basic module for decision support of offshore operations. Therefore, methods of different complexity—the linear wave solution, the non-linear Schrödinger equation (NLSE) of two different orders and the high-order spectral method (HOSM)—are presented in terms of applicability and limitations of use. For this purpose, irregular sea states with varying parameters are addressed by numerical simulations as well as model tests in the controlled environment of a seakeeping basin. The irregular sea state investigations focuses on JONSWAP spectra with varying wave steepness and enhancement factor. In addition, the influence of the propagation distance as well as the forecast horizon is discussed. For the evaluation of the accuracy of the prediction, the surface similarity parameter is used, allowing an exact, quantitative validation of the results. Based on the results, the pros and cons of the different deterministic wave prediction methods are discussed. In conclusion, this paper shows that the classical NLSE is not applicable for deterministic wave prediction of arbitrary irregular sea states compared to the linear solution. However, the application of the exact linear dispersion operator within the linear dispersive part of the NLSE increased the accuracy of the prediction for small wave steepness significantly. In addition, it is shown that non-linear deterministic wave prediction based on second-order NLSE as well as HOSM leads to a substantial improvement of the prediction quality for moderate and steep irregular wave trains in terms of individual waves and prediction distance, with the HOSM providing a high accuracy over a wider range of applications.