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Salmonid fish raised in hatcheries often have lower fitness (number of returning adult offspring) than wild fish when both spawn in the wild. Body size at release from hatcheries is positively correlated with survival at sea. So one explanation for reduced fitness is that hatcheries inadvertently select for trait values that enhance growth rate under the unnatural environment of a hatchery, but that are maladaptive in the wild environment. A simple prediction of this hypothesis is that juveniles of hatchery origin should grow more quickly than fish of wild origin under hatchery conditions, but should have lower survival under wild conditions. We tested that hypothesis using multiple full sibling families of steelhead (Oncorhynchus mykiss) that were spawned using either two wild parents (WxW) or two first-generation hatchery (HxH) parents. Offspring from all the families were grown together under hatchery conditions and under semi-natural conditions in artificial streams. HxH families grew significantly faster in the hatchery, but had significantly lower survival in the streams. That we see this tradeoff after only a single generation of selection suggests that the traits involved are under very strong selection. We also considered one possible alteration to the hatchery environment that might reduce the intensity of selection among families in size at release. Here we tested whether reducing the fat content of hatchery feed would reduce the variance among families in body size. Although fish raised under a low-fat diet were slightly smaller, the variation among families in final size was unchanged. Thus, there is no evidence that reducing the fat content of hatchery feed would reduce the opportunity for selection among families on size at release.

Cyclophilin A/DIAGEOTROPICA (DGT) has been linked to auxin-regulated development in tomato and appears to affect multiple developmental pathways. Loss of DGT function results in a pleiotropic phenotype that is strongest in the roots, including shortened roots with no lateral branching. Here, we present an RNA-Seq dataset comparing the gene expression profiles of wildtype (‘Ailsa Craig’) and dgt tissues from three spatially separated developmental stages of the tomato root tip, with three replicates for each tissue and genotype. We also identify differentially expressed genes, provide an initial comparison of genes affected in each genotype and tissue, and provide the pipeline used to analyze the data. Further analysis of this dataset can be used to gain insight into the effects of DGT on various root developmental pathways in tomato.

Schistosomiasis is a debilitating parasitic disease infecting hundreds of millions of people. Schistosomes use aquatic snails as intermediate hosts. A promising avenue for disease control involves leveraging innate host mechanisms to reduce snail vectorial capacity. In a genome-wide association study of Biomphalaria glabrata snails, we identify genomic region PTC2 which exhibits the largest known correlation with susceptibility to parasite infection (>15 fold effect). Using new genome assemblies with substantially higher contiguity than the Biomphalaria reference genome, we show that PTC2 haplotypes are exceptionally divergent in structure and sequence. This variation includes multi-kilobase indels containing entire genes, and orthologs for which most amino acid residues are polymorphic. RNA-Seq annotation reveals that most of these genes encode single-pass transmembrane proteins, as seen in another resistance region in the same species. Such groups of hyperdiverse snail proteins may mediate host-parasite interaction at the cell surface, offering promising targets for blocking the transmission of schistosomiasis., eLife digest Schistosomiasis is a widespread parasitic disease, affecting over 200 million people in tropical countries. It is caused by schistosome worms, which are carried by freshwater snails. These snails release worm larvae into the water, where they can infect humans – for example, after bathing or swimming. Treatment options for schistosomiasis are limited. Eliminating the freshwater snails is one way to control the disease, but this is not always effective in the long term and the chemicals used can also harm other animals in the water. Another way to manage schistosomiasis could be to stop the worms from infecting their snail host by breaking the parasites’ life cycle without killing the snails. It is already known that some snails are naturally resistant to infection by some strains of schistosomes. Since this immunity is also inherited by the offspring of resistant snails, there is likely a genetic mechanism behind it. However, very little else is known about any genes that might be involved. Tennessen et al. therefore set out to identify what genes were responsible for schistosome resistance and how they worked. The experiments used a large laboratory colony of snails, whose susceptibility to schistosome infection varied among individual animals. To determine the genes behind this variation, Tennessen et al. first searched for areas of DNA that also differed between the immune and infected snails. Comparing genetic sequences across over 1,000 snails revealed a distinct region of DNA that had a large effect on how likely they were to be infected. This section of DNA turned out to be highly diverse, with different snails carrying varying numbers and different forms of the genes within this region. Many of these genes appear to encode proteins found on the surface of snail cells, which could affect whether snails and worms can recognize each other when they come into contact. This in turn could determine whether or not the worms can infect their hosts. These results shed new light on how the snails that carry schistosomes may be able to resist infections. In the future, this knowledge could be key to controlling schistosomiasis, either by releasing genetically engineered, immune snails into the wild (thus making it harder for the parasites to reproduce) or by using the snails’ mechanism of resistance to design better drug therapies.

The aquatic planorbid snail Biomphalaria glabrata is one of the most intensively-studied mollusks due to its role in the transmission of schistosomiasis. Its 916 Mb genome has recently been sequenced and annotated, but it remains poorly assembled. Here, we used targeted capture markers to map over 10,000 B. glabrata scaffolds in a linkage cross of 94 F1 offspring, generating 24 linkage groups (LGs). We added additional scaffolds to these LGs based on linkage disequilibrium (LD) analysis of targeted capture and whole-genome sequences of 96 unrelated snails. Our final linkage map consists of 18,613 scaffolds comprising 515 Mb, representing 56% of the genome and 75% of genic and nonrepetitive regions. There are 18 large (> 10 Mb) LGs, likely representing the expected 18 haploid chromosomes, and > 50% of the genome has been assigned to LGs of at least 17 Mb. Comparisons with other gastropod genomes reveal patterns of synteny and chromosomal rearrangements. Linkage relationships of key immune-relevant genes may help clarify snail–schistosome interactions. By focusing on linkage among genic and nonrepetitive regions, we have generated a useful resource for associating snail phenotypes with causal genes, even in the absence of a complete genome assembly. A similar approach could potentially improve numerous poorly-assembled genomes in other taxa. This map will facilitate future work on this host of a serious human parasite.

Expressed micro-RNA (miRNA) affects messenger RNA (mRNA) abundance, hindering the accuracy of upstream regulator analysis. Our objective was to provide an algorithm to correct such bias. Large mRNA and miRNA analyses were performed on RNA extracted from bovine liver and mammary tissue. Using four levels of target scores from TargetScan (all miRNA:mRNA target gene pairs or only the top 25%, 50%, or 75%) Using four levels of target scores from TargetScan (all miRNA:mRNA target gene pairs or only the top 25%, 50%, or 75%) and four levels of the magnitude of miRNA effect (ME) on mRNA expression (30%, 50%, 75%, and 83% mRNA reduction), we generated 17 different datasets (including the original dataset). For each dataset, we performed upstream regulator analysis using two bioinformatics tools. We detected an increased effect on the upstream regulator analysis with larger miRNA:mRNA pair bins and higher ME. The miRNA correction allowed identification of several upstream regulators not present in the analysis of the original dataset. Thus, the proposed algorithm improved the prediction of upstream regulators.

There are increasing concerns regarding the role global climate change will have on many vector-borne diseases. Both mathematical models and laboratory experiments suggest that schistosomiasis risk may change as a result of the effects of increasing temperatures on the planorbid snails that host schistosomes. Heat pulse/heat shock of the BS90 strain of Biomphalaria glabrata was shown to increase the rate of infection by Schistosoma mansoni, but the result was not replicable in a follow up experiment by a different lab. We characterised the susceptibility and cercarial shedding of Guadeloupean B. glabrata after infection with S. mansoni under two temperature regimes: multigenerational exposure to small increases in temperature, and extreme heat pulse events. Neither long-term, multigenerational rearing at elevated temperatures, nor transient heat pulse modified the susceptibility of Guadeloupean B. glabrata to infection (prevalence) or shedding of schistosome cercaria (intensity of infection). These findings suggest that heat pulse-induced susceptibility in snail hosts may be dependent on the strain of the snail and/or schistosome, or on some as-yet unidentified environmental co-factor.

Modulation of gene expression through RNA interference is well conserved in eukaryotes and is involved in many cellular processes. In the oomycete Phytophthora, research on the small RNA machinery and function has started to reveal potential roles in the pathogen, but much is still unknown. We examined Argonaute (AGO) homologs within oomycete genome sequences, especially among Phytophthora species, to gain a clearer understanding of the evolution of this well-conserved protein family. We identified AGO homologs across many representative oomycete and stramenopile species, and annotated representative homologs in P. sojae. Furthermore, we demonstrate variable transcript levels of all identified AGO homologs in comparison to previously identified Dicer-like (DCL) and RNA-dependent RNA polymerase (RDR) homologs. Our phylogenetic analysis further refines the relationship of the AGO homologs in oomycetes and identifies a conserved tandem duplication of AGO homologs in a subset of Phytophthora species.

Background Postanalytic issues of Ki67 assessment in breast cancers like counting method standardisation and interrater bias have been subject of various studies, but little is known about analytic variability of Ki67 staining between pathology labs. Our aim was to study interlaboratory variability of Ki67 staining in breast cancer using tissue microarrays (TMAs) and central assessment to minimise preanalytic and postanalytic influences. Methods Thirty European pathology labs stained serial slides of a TMA set of breast cancer tissues with Ki67 according to their routine in-house protocol. The Ki67-labelling index (Ki67-LI) of 70 matched samples was centrally assessed by one observer who counted all cancer cells per sample. We then tested for differences between the labs in Ki67-LI medians by analysing variance on ranks and in proportions of tumours classified as luminal A after dichotomising oestrogen receptor–positive cancers into cancers showing low (

Schistosomiasis is one of the most important neglected tropical diseases. Despite effective chemotherapeutic treatments, this disease continues to afflict hundreds of millions of people. Understanding the natural intermediate snail hosts of schistosome parasites is vital to the suppression of this disease. A recently identified genomic region in Caribbean Biomphalaria glabrata snails strongly influences their resistance to infection by Schistosoma mansoni. This region contains novel genes having structural similarity to known pathogen recognition proteins. Here we elaborate on the probable structure and role of one of these genes, grctm6. We characterised the expression of Grctm6 in a population of Caribbean snails, and performed a siRNA knockdown of Grctm6. We show that this protein is not only expressed in B. glabrata hemolymph, but that it also has a role in modulating the number of S. mansoni cercariae released by infected snails, making it a possible target for the biological control of schistosomiasis., Author summary Schistosomiasis is one of the most prevalent parasitic diseases in the world. Though treatments for schistosomiasis infection exist, there is no vaccine, and reinfection is common in areas where the parasite occurs. One possible way to mitigate schistosomiasis is by controlling the transmission of the parasite larvae from the snails that carry them. Understanding the snail-parasite relationship is essential for the development of new means to interrupt transmission of the parasite from snails to humans. Snails possess immune mechanisms for fighting infection, most of which are based in hemolymph tissue. Here we characterize a novel protein, Grctm6, in a snail host of schistosome parasites. Grctm6 is structurally similar to certain other immune proteins and is present in snail hemolymph. Importantly, we demonstrate that the release of schistosomes by infected snails is exacerbated when this protein is experimentally suppressed in live snails. These results support the suitability of Grctm6 as a possible target for reducing the transmission of this human disease.

Gene regulation by small RNA pathways is ubiquitous among eukaryotes, but little is known about small RNA pathways in the Stramenopile kingdom. Phytophthora, a genus of filamentous oomycetes, contains many devastating plant pathogens, causing multibillion-dollar damage to crops, ornamental plants, and natural environments. The genomes of several oomycetes including Phytophthora species such as the soybean pathogen P. sojae, have been sequenced, allowing evolutionary analysis of small RNA-processing enzymes. This study examined the evolutionary origins of the oomycete small RNA-related genes Dicer-like (DCL), and RNA-dependent RNA polymerase (RDR) through broad phylogenetic analyses of the key domains. Two Dicer gene homologs, DCL1 and DCL2, and one RDR homolog were cloned and analyzed from P. sojae. Gene expression analysis revealed only minor changes in transcript levels among different life stages. Oomycete DCL1 homologs clustered with animal and plant Dicer homologs in evolutionary trees, whereas oomycete DCL2 homologs clustered basally to the tree along with Drosha homologs. Phylogenetic analysis of the RDR homologs confirmed a previous study that suggested the last common eukaryote ancestor possessed three RDR homologs, which were selectively retained or lost in later lineages. Our analysis clarifies the position of some Unikont and Chromalveolate RDR lineages within the tree, including oomycete homologs. Finally, we analyzed alterations in the domain structure of oomycete Dicer and RDR homologs, specifically focusing on the proposed domain transfer of the DEAD-box helicase domain from Dicer to RDR. Implications of the oomycete domain structure are discussed, and possible roles of the two oomycete Dicer homologs are proposed.

Testicular biopsies were obtained from Wistar rats that had been infected artificially with Ureaplasma urealyticum, serotype 3. Approximately 50% of the biopsy specimens obtained 3 and 6 months after infection showed degeneration of the germinal epithelium, giant cell formation and Leydig cell hyperplasia. Electron microscopic studies revealed striking alterations of Sertoli cells, germ cells, and Leydig cells as well as ureaplasma organisms inside the seminiferous tubules. The changes noted in the ertoli cells were apparent as early as one week after infection.

Summary: Male Wistar rats were infected with Ureaplasma urealyticum, serotype 3 or 7, by injecting broth containing organisms into the urinary bladder following laparatomy. Animals were sacrified 3, 7 and 21 days after infection. Ureaplasmas were detected in the organs of the genital tract by culture in 43% (serotype 3) and in 60% (serotype 7) of the animals. Type-specific Ureaplasma antigen was detected in the genital organs in 44% (serotype 3) and 45% (serotype 7) of the animals. Control animals injected with sterile bouillon were negative for organisms and antigen. Male Wistar rats artificially infected with Ureaplasma urealyticum, serotype 3, were mated 3 and 6 months after infection with Ureaplasma free female rats. The mating experiment revealed a smaller mean litter size and a lower birth weight in the offspring of infected males compared with the control animals, but no general influence on the fertility of infected animals. Zusammenfassung: Mykoplasmenfreie mannliche Wistarratten wurden intravesikal mit Ureaplasma urealyticum Serotype 3 oder 7 infiziert und 3, 7 oder 21 Tage post infectionem getotet. Ureaplasmen liesen sich in den Organen durch Re-Isolation bei 43% (Serotype 3) bzw. 60% (Serotype 7) der Tiere nachweisen. Typenspezifisches Ureaplasmenantigen wurde bei 44% (Serotype 3) bzw. 45% (Serotype 7) der Tiere gefunden. In gleicher Weise mit steriler Bouillon behandelte Kontrolltiere waren negativ. Mannliche Wistarratten wurden mit Ureaplasma urealyticum, Serotype 3, artifiziell infiziert und 3 bzw. 6 Monate post infectionem mit ureaplasmenfreien Weibchen gepaart. Der Paarungsversuch ergab eine Verringerung des mittleren Geburtsgewichtes und der mittleren Wurfgrose bei den Nachkommen der infizierten Tiere im Vergleich mit den Kontrolltieren, aber keine generelle Beeintrachtigung der Fertilitat der infizierten Tiere.

Zusammenfassung: Durch flammenphotometrische Messung wurde die Na- und K-Kon-zentration in humanem Seminalplasma und humanen Spermienzellen sowie in einer artifi-ziell mit Ureaplasma urealyticum infizierten Spermiensuspension wahrend 22stiindiger In-kubation bestimmt. Die Na-Konzentration betragt 86,2 ± 21,97 mmol/1 Zellen in den Spermienzellen und 120,8 ± 15,87 mM im Seminalplasma. Die K-Konzentration wurde mit 33,2 ± 16,35 mmol/1 Zellen in den Spermienzellen und 26,7 ± 4,92 mM im Seminalplasma bestimmt. Im Medium der Spermiensuspension fallt die Na-Konzentration wahrend der ersten Stunde der Inkubation deutlich ab und steigt mit zunehmender Inkubationszeit wieder bis zum Ausgangswert und daruber hinaus an. Die K-Konzentration verandert sich nur unwesentlich. Die Na-Konzentration im Suspensionsmedium 1st in der ureaplasmainfizierten Spermiensuspension deutlich, jedoch nicht signifikant hoher als in der ureaplasmafreien Kon-trolle. Die K-Konzentration im Suspensionsmedium ist im Versuchsansatz durchgehend geringfugig hoher als in der Kontrolle. Ein ureaplasmainduzierter Effekt auf die Ionenkon-zentration im Suspensionsmedium ist nicht nachweisbar. Summary: The concentration of sodium and potassium ions was measured by flame photometry in human seminal plasma and human sperm cells as well as in a sperm cell suspension infected experimentally with Ureaplasma urealyticum during incubation as long as 22 hours. The sodium concentration is 86,2 ± 21.97 mmol/1 cells in sperm cells and 120.8 ± 15.87 mM in seminal plasma. The potassium concentration is 33.2 ± 16.35 mmol/1 cells in sperm cells and 26.7 ± 4.92 mM in seminal plasma. The sodium concentration decreased considerably in the suspension medium of sperm cells during the first hour of incubation and increased again subsequently. The potassium concentration in the suspension medium changed only little. The sodium concentration in the infected sperm cell suspension was insignificantly increased compared with the mycoplasma-free controls. The potassium concentration was slightly higher in the infected specimens than in the controls. There was no mycoplasma-induced effect on the concentration of sodium and potassium in the sperm suspension after experimental infection.

The first part gives an overview of the practical application of colour-coded Doppler sonography in foetal cardiology. After a comparison between colour-coded and pulsed spectral Doppler in the assessment of foetal intracardiac haemodynamics, the basic principles of colour Doppler are presented. Some practical aspects important in the optimal analysis of the foetal heart are emphasised considering the possibilities and limits of the method. The typical patterns of colour Doppler flow in normal foetal hearts and possible pitfalls are explained viewing different cross-section planes. After the analysis of the cardiac structures in Real-Time, the colour Doppler sonography enables the examiner to assess rapidly and reliably the intracardiac haemodynamics in the foetus. This diagnostical mean improves the accuracy of foetal echocardiography in the diagnosis of congenital cardiac diseases.

Clinical and autopsy records of 209 stillborn and 81 miscarried infants with 484 congenital defects of the central nervous system were analysed. Sets of more than one defect were retrospectively classified by pathogenetic criteria as syndrome, sequence, association and midline defects. Pathogenetic thinking makes the prenatal diagnosis of further defects easier if one has already been diagnosed. Statements regarding the most probable localisation of neural tube defects have been made.

The second part gives an overview of the usefulness of colour Doppler in the diagnosis of congenital heart anomalies in the foetus. Typical colour Doppler findings in anomalies of the right ventricular inflow and outflow tract are presented especially in tricuspid atresia, in Ebstein's anomaly, in pulmonary stenosis and pulmonary atresia. Furthermore exposed are the findings in malformations of left ventricular inflow and outflow tract like in hypoplastic left heart syndrome or in aortic stenosis. The typical shunt patterns detected in atrioventricular or ventricular septal defects are also presented. The analysis of the perfusion of the great vessels bei colour Doppler is important and enables a reliable assessment of some cardiac defects like the Tetralogy of Fallot, the transposition of great arteries or the double outlet right ventricle. At least the application of the colour coded M-Mode echocardiography is explained. Colour Doppler echocardiography is a non-invasive method which is helpful in the detection and the description of abnormalities of the foetal heart and is nowadays indispensable in the prenatal diagnosis of congenital heart defects.

During a 7-year-period 22 foetuses with an Arnold-Chiari deformity were diagnosed. The reason for referring to our centre were severe additional malformations. In 2 cases protrusion of the fetal brainstem is documented by sonography prenatally. Prenatal diagnosis of an ACM has not been documented in the literature. The cytogenetic and microbiological findings including the additional malformations are presented. Pathogenesis, outcome and treatment options are discussed.

We report a fetus of 28 weeks' gestation in which ultrasonography demonstrated unilateral ventriculomegaly and microcephaly. Fetal MRI demonstrated a simple, left paramedian occipital cyst with rarefaction of the corpus callosum and thinning of the adjacent cortical mantle. Ischaemia was suggested as the underlying pathogenesis, but autopsy after termination of pregnancy revealed a glioependymal cyst. This case highlights consideration of the rare diagnosis of glioependymal cyst when a cystic lesion associated with cerebral malformations, particularly dysgenesis of the corpus callosum, is demonstrated and fetal MRI suggests an ischaemic origin.

Background New strategies to combat the global scourge of schistosomiasis may be revealed by increased understanding of the mechanisms by which the obligate snail host can resist the schistosome parasite. However, few molecular markers linked to resistance have been identified and characterized in snails. Methodology/Principal Findings Here we test six independent genetic loci for their influence on resistance to Schistosoma mansoni strain PR1 in the 13-16-R1 strain of the snail Biomphalaria glabrata. We first identify a genomic region, RADres, showing the highest differentiation between susceptible and resistant inbred lines among 1611 informative restriction-site associated DNA (RAD) markers, and show that it significantly influences resistance in an independent set of 439 outbred snails. The additive effect of each RADres resistance allele is 2-fold, similar to that of the previously identified resistance gene sod1. The data fit a model in which both loci contribute independently and additively to resistance, such that the odds of infection in homozygotes for the resistance alleles at both loci (13% infected) is 16-fold lower than the odds of infection in snails without any resistance alleles (70% infected). Genome-wide linkage disequilibrium is high, with both sod1 and RADres residing on haplotype blocks >2Mb, and with other markers in each block also showing significant effects on resistance; thus the causal genes within these blocks remain to be demonstrated. Other candidate loci had no effect on resistance, including the Guadeloupe Resistance Complex and three genes (aif, infPhox, and prx1) with immunological roles and expression patterns tied to resistance, which must therefore be trans-regulated. Conclusions/Significance The loci RADres and sod1 both have strong effects on resistance to S. mansoni. Future approaches to control schistosomiasis may benefit from further efforts to characterize and harness this natural genetic variation., Author Summary Aquatic snails transmit schistosome blood flukes, causing a parasitic disease second only to malaria in its global health impact. The mechanisms by which some snails naturally resist infection are poorly understood, but if characterized could enable protocols to interfere with transmission of the disease. Here we identify a region of the snail genome that correlates with resistance to infection, and we examine its effect on immunity jointly with a previously described resistance gene. Variation at other candidate genes has no effect on parasite resistance in this laboratory population. The two resistance regions could serve as targets to block parasite transmission via snails.

We present the case of a 76-year-old lady in whom the work-up for iron-deficiency anaemia resulted in the finding of a giant gastric polyp. The polyp could be completely removed endoscopically. The final histology showed the rare entity of a pyloric gland adenoma with focal transition into a well-differentiated adenocarcinoma. The patient is well after a follow-up of 12 months. Pyloric gland adenoma was first described in 1990. In spite of its benign histological appearance, a transition into adenocarcinoma has been reported in up to 30 % of the cases. Thus, although relatively rare, the gastroenterologist/endoscopist, as well as the pathologist should be aware of the entity of pyloric gland adenoma.

During the many cell divisions that precede formation of plant gametes, their apical-meristem and floral antecedents are continually exposed to endogenous and environmental mutagenic threats. Although some deleterious recessive mutations may be eliminated during growth of haploid gametophytes and functionally haploid early embryos (“haplosufficiency quality-checking”), the multiplicity of plant genome-maintenance systems suggests aggressive quality control during prior diploid growth. To test in Arabidopsis a hypothesis that prior mismatch repair (MMR) is paramount in defense of plant genetic fidelity, we propagated in parallel 36 MMR-defective (Atmsh2-1) and 36 wild-type lines. The Atmsh2-1 lines rapidly accumulated a wide variety of mutations: fifth-generation (G5) plants showed abnormalities in morphology and development, fertility, germination efficiency, seed/silique development, and seed set. Only two Atmsh2-1, but all 36 wild-type lines, appeared normal at G5. Analyses of insertion/deletion mutation at six repeat-sequence (microsatellite) loci showed each Atmsh2-1 line to have evolved its own “fingerprint,” the results of as many as 10 microsatellite mutations in a single line. Thus, MMR during diploid growth is essential for plant genomic integrity.

Highly conserved mismatch repair (MMR) systems promote genomic stability by correcting DNA replication errors, antagonizing homeologous recombination, and responding to various DNA lesions. Arabidopsis and other plants encode a suite of MMR protein orthologs, including MSH2, the constant component of various specialized eukaryotic mismatch recognition heterodimers. To study MMR roles in plant genomic stability, we used Arabidopsis AtMSH2::TDNA mutant SALK_002708 and AtMSH2 RNA-interference (RNAi) lines. AtMSH2::TDNA and RNAi lines show normal growth, development, and fertility. To analyze AtMSH2 effects on germ line DNA fidelity, we measured insertion-deletion mutation of dinucleotide-repeat sequences (microsatellite instability) at nine loci in 16 or more progeny of two to four different wild-type or AtMSH2-deficient plants. Scoring 992 total alleles revealed 23 (2.3%) unique and 51 (5.1%) total repeat length shifts ([+2], [-2], [+4], or [-4] bp). For the six longest repeat loci, the corresponding frequencies were 22/608 and 50/608. Two of four AtMSH2-RNAi plants showed similar microsatellite instability. In wild-type progeny, only one unique repeat length allele was found in 576 alleles tested. This endogenous microsatellite instability, shown for the first time in MMR-defective plants, is similar to that seen in MMR-defective yeast and mice, indicating that plants also use MMR to promote germ line fidelity. We used a frameshifted reporter transgene, (G)7 GUS, to measure insertion-deletion reversion as blue-staining β-glucuronidase-positive leaf spots. Reversion rates increased only 5-fold in AtMSH2::TDNA plants, considerably less than increases in MSH2-deficient yeast or mammalian cells for similar mononucleotide repeats. Thus, MMR-dependent error correction may be less stringent in differentiated leaf cells than in plant equivalents of germ line tissue.

Several available codes for hadronic event generation and shower simulation are discussed and their predictions are compared to experimental data in order to obtain a satisfactory description of hadronic processes in Monte Carlo studies of detector systems for medium energy experiments. The most reasonable description is found for the intra-nuclear-cascade (INC) model of Bertini which employs microscopic description of the INC, taking into account elastic and inelastic pion–nucleon and nucleon–nucleon scattering. The isobar model of Sternheimer and Lindenbaum is used to simulate the inelastic elementary collisions inside the nucleus via formation and decay of the Δ 33 -resonance which, however, limits the model at higher energies. To overcome this limitation, the INC model has been extended by using the resonance model of the HADRIN code, considering all resonances in elementary collisions contributing more than 2% to the total cross-section up to kinetic energies of 5 GeV. In addition, angular distributions based on phase shift analysis are used for elastic nucleon–nucleon as well as elastic and charge exchange pion–nucleon scattering. Also kaons and antinucleons can be treated as projectiles. Good agreement with experimental data is found predominantly for lower projectile energies, i.e. in the regime of the Bertini code. The original as well as the extended Bertini model have been implemented as shower codes into the high energy detector simulation package GEANT-3.14, allowing now its use also in full Monte Carlo studies of detector systems at intermediate energies. The GEANT-3.14 here have been used mainly for its powerful geometry and analysing packages due to the complex EDDA detector system.

Background Chlamydia trachomatis is considered to be the most common sexually transmitted disease in Germany. It is currently unclear whether chlamydial infection causes pathological conditions of the male accessory glands with consequences for male infertility. Patients and methods Within the framework of several prospective studies the association between sperm quality, male accessory gland function and infection with C. trachomatis was investigated in men of couples with unexplained infertility. Chlamydial infection was determined by serologic methods and by proof of Chlamydia-specific DNA. As a marker of infection the direct determination of granulocytes in the ejaculate or the measurement of the polymorphonuclear (PMN) elastase concentration was used. The male accessory gland function was evaluated using the markers fructose, citric acid and alpha-glucosidase in the seminal plasma. Results Chlamydia-specific DNA in the ejaculate was present in between 3-5% of the subjects, which corresponds to its prevalence in the normal population. Chlamydia IgA antibodies were demonstrated with a frequency of 38% in seminal plasma (n = 834) using a genus-specific test (rELISA). Using other species-specific tests (MIF, SeroCT, IgA pELISA and ImmunoComb), Chlamydia IgA antibodies were found at frequencies of between 8 and 22%. Conclusion Only in a few individual cases was it possible to show a connection between reduced sperm quality, disturbed male accessory gland function and indication of infection with Chlamydia, bacteria or Ureaplasma.

Durch die Digitalisierung der Ultraschalltechnik eroffnet sich eine Reihe von Entwicklungsmoglichkeiten. Neben den direkten Verbesserungen der Ultraschalldiagnostik am Gerat wie der 3-D-Technik existiert eine weitere Entwicklung, die nicht viel Aufsehen erregt hat, die Vernetzung des Ultraschallgerats. Paradeanwendungen hierfur sind die Bildspeicherung und -kommunikation gemas dem DICOM-Standard, der Teleultraschall und die Fernwartung des Gerats. Bei der Handhabung fehlt noch die sog. Plug-and-play-Eigenschaft, um die Vernetzung zu forcieren. Der mobile Einsatz von Ultraschallgeraten ist bereits moglich. Durch die Einfuhrung des schnellen “Handyprotokolls” UMTS lasst sich ein mobiles Teleultraschallgerat ohne weiteres realisieren.

Aim According to epidemiological studies on newborns, the association of congenital heart defects with chromosomal anomalies varies between 4 and 12%. Prenatally this rate is probably higher, due to antenatal death occurring in fetuses with chromosomal aberrations. The aim of the study was therefore to determine the rate and the distribution of chromosomal aberrations in prenatally detected heart defects. Patients and method Within a period of 7 years fetal echocardiography was performed on 2716 fetuses at high risk for CHD. The analysis of the fetal heart was achieved by the visualization of different planes. Once a heart defect was detected, karyotyping was performed after amniocentesis, cordocentesis or chorion villous sampling, or in a few cases postnatally from cord blood. Prenatal ultrasound findings were confirmed postnatally by ultrasound examination or, in case of abortion, stillbirth or neonatal death, by autopsy. Results A total of 203 fetal heart malformations were detected and 46 of them (22%) had associated chromosomal anomalies. 60% of all cases and 80% of the study group had extracardiac anomalies. Only eight out of the 46 pregnant women (17.5%) were older than 35 years. Eight out of the 15 fetuses with trisomy 18 had a ventricular septal defect, 9/13 fetuses with trisomy 21 had an atrioventricular septal defect and all 5 fetuses with monosomy X had a left heart outflow obstruction. No typical cardiac defects were found in the remaining 13 fetuses (5 trisomy 13, 2 triploidies, 6 miscellaneous). Of the 13 live births (23 terminations of pregnancy and 10 intrauterine deaths) 6 children survived (46% and overall survival rate 13%). The following rates of associations with aneuploidies were found: atrioventricular septal defect 55%, ventricular septal defect and aortic coaction both 43%, tetralogy of Fallot and double outlet right ventricle both 36%. In comparison, fetuses with isomerism, transposition of the great arteries and pulmonary atresia or stenosis had normal chromosomes. Conclusion We conclude that the rate of association of heart defects and chromosomal abnormalities is higher prenatally than in the neonatal period and is approximately 22%. After detecting a fetal cardiac malformation, karyotyping is mandatory for the further management of pregnancy. The likelihood of detection of an aneuploidy increases when some typical heart defects are detected or when an association with extracardiac anomalies is found.

A novel scintillating fiber hodoscope in helically cylindric geometry has been developed for detection of low multiplicity events of fast protons and other light charged particles in the internal target experiment EDDA at the Cooler Synchrotron COSY. The hodoscope consists of 640 scintillating fibers (2.5 mm diameter), arranged in four layers surrounding the COSY beam pipe. The fibers are helically wound in opposing directions and read out individually using 16-channel photomultipliers connected to a modified commercial encoding system. The detector covers an angular range of 9°⩽ Θ ⩽72° and 0°⩽ ϕ ⩽360° in the lab frame. The detector length is 590 mm, the inner diameter 161 mm. Geometry and granularity of the hodoscope afford a position resolution of about 1.3 mm. The detector design took into consideration a maximum of reliability and a minimum of maintenance. An LED array may be used for monitoring purposes.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

The objective of this study was to describe the normal blood flow velocity waveforms in the main branches of the right and left pulmonary arteries in the human fetus and to establish reference ranges for different Doppler parameters during the second half of pregnancy. Cross-sectional data were collected from 86 healthy human singleton fetuses between 18 and 38 weeks of gestation. With advancing gestation a significant increase (p < 0.001) in the peak systolic velocity, time averaged velocity and time velocity integral was observed. The pulsatility index decreased significantly (p < 0.05) in the same period, suggesting a decrease in the pulmonary arterial vascular resistance. The acceleration time (AT) and the ratio of AT to ejection time (AT/ET), described in postnatal cardiology as having an inverse correlation with mean arterial pressure, increased significantly (p < 0.001). This is possibly the result of decreased pulmonary arterial pressure. The data show that Doppler examination of blood flow in the main stem of both the right and the left pulmonary arteries of the fetus is feasible, and increases insight into the lung perfusion of the human fetus. The observed changes throughout gestation are in accordance with animal experiments showing an increase in perfusion as well as a decrease in the vascular resistance and pressure.

Excitation functions of proton-proton elastic cross sections have been measured in narrow momentum steps Δp = 28 MeV/c in the kinetic energy range from 0.5 to 2.5 GeV and the angular range 35° ≤ Θ cm ≤ 90° with a detector providing ΔΘ cm ≈ 1.4° resolution and 82% solid angle coverage. Measurements have been performed continuously during projectile acceleration in the Cooler Synchrotron COSY with an internal CH 2 fiber target; background corrections were derived from measurements with a carbon fiber target and from Monte Carlo simulations of inelastic pp contributions. Particular care was taken to monitor the luminosity as a function of beam energy. The results provide excitation functions and angular distributions of unprecedented precision and internal consistency. The measured cross sections are compared to recent phase shift analyses, and their impact on the present solution SM97 [1] is discussed.

Die Aortenstenose, die linksventrikulare Dysfunktion bei kritischer Aortenstenose, das hypoplastische Linksherzsyndrom und die Aortenisthmusstenose sind die wichtigsten angeborenen Herzfehler mit linksventrikularen Ausflustrakt (LVOT)-Obstruktionen, die auch pranatal entdeckbar sind. Die Arbeit gibt eine Ubersicht uber die pranatale Beurteilung des LVOT in normalen und auffalligen Herzen. Auf die Bedeutung und die Zuverlassigkeit verschiedener diagnostischer Techniken wie das B-Bild, die Spektral- oder die Farbdopplersonographie wird eingegangen. In den meisten Fallen mit einer LVOT-Obstruktion erscheint der linke Ventrikel bereits auffallig in der Vierkammerblickebene, so das in der Arbeit die Hauptmerkmale einer zuverlassigen Differentialdiagnose hervorgehoben werden. Die Einstellung der Dreigefasblickebene unter Anwendung des Farbdopplers wird in der Beurteilung des Ausflustrakts empfohlen, da bei den meisten schweren LVOT-Obstruktionen eine retrograde Perfusion uber dem Isthmus aortae gefunden wird.

Excitation functions of proton-proton elastic scattering cross sections have been measured in narrow steps for projectile momenta p{sub p} (energies T{sub p}) from 1100 to 3300MeV/c (500 to 2500MeV) in the angular range 35{degree}{le}{Theta}{sub c.m.}{le}90{degree} with a detector providing {Delta}{Theta}{sub c.m.}{approx}1.4{degree} resolution. Measurements have been performed continuously during projectile acceleration in the cooler synchrotron COSY with an internal CH{sub 2} fiber target, taking particular care to monitor luminosity as a function of T{sub p}. The advantages of this experimental technique are demonstrated, and the excitation functions obtained are compared to existing cross section data. No evidence for narrow structures was found. {copyright} {ital 1997} {ital The American Physical Society}

Fragestellung: Ziel der Arbeit war die Erstellung gestationsabhangiger Referenzkurven fur fetale Blutgas- und Saure-Basen-Parameter wahrend der 2. Schwangerschaftshalfte. M