bluuebunny/crossref_metadata_2025 huggingface dataset:
Factors influencing the agreement on histopathological assessments of breast biopsies among pathologists
Authors: Stang Andreas , Trocchi Pietro , Ruschke Kathrin , Schmidt‐Pokrzywniak Andrea , Holzhausen Hans‐Jürgen , Löning Thomas , Buchmann Jörg , Thomssen Christoph , Lantzsch Tillmann , Hauptmann Steffen , Böcker Werner , Kluttig Alexander
Published: November 2011

Stang A, Trocchi P, Ruschke K, Schmidt‐Pokrzywniak A, Holzhausen H‐J, Löning T, Buchmann J, Thomssen C, Lantzsch T, Hauptmann S, Böcker W & Kluttig A  (2011) Histopathology  59, 939–949  Factors influencing the agreement on histopathological assessments of breast biopsies among pathologists

Aims:  It has been recommended that the histopathology results of core biopsies of the breast are categorized according to the B‐categorization scheme. We measured the interobserver variability of the B‐categorization of core biopsies of the breast.

Methods and results:  Core biopsies were taken among 765 women at the University of Halle between 2006 and 2008. All histological slides were reviewed in a blinded fashion by two experienced breast pathologists. We calculated observed and chance‐corrected agreements (kappa) and 95% confidence intervals (CI). The prevalence of B3–B5 biopsies was 41.6%. The observed and weighted kappa agreement of the five‐level B‐categorization scheme was 0.87 (95% CI: 0.84 −0.89) and 0.89 (95% CI: 0.89–0.91), respectively. The most frequent disagreement was between B2 and B3 (47 of 103 disagreements, 45.6%). Overall, 49.5% of all disagreements were clinically relevant disagreements that would imply different therapeutic strategies. Agreement was modified by referral group, Breast Imaging Reporting and Data System (BIRADS) level, radiological breast density, imaging guidance and application of immunohistological staining.

Conclusions:  Interobserver agreement of the B‐categorization scheme was high and was modified by referral status, level of radiological suspicion of breast cancer, breast density, imaging guidance of core biopsies and requirement of additional immunohistological staining.
Mesothelial markers in high‐grade breast carcinoma
Authors: Duhig Edwina E , Kalpakos Lydia , Yang Ian A , Clarke Belinda E
Published: November 2011

Duhig E E, Kalpakos L, Yang I A & Clarke B E  (2011) Histopathology59, 957–964

Mesothelial markers in high‐grade breast carcinoma

Aims:  Advances in molecular profiling have subdivided breast carcinomas into distinct subtypes. Basal carcinomas are generally oestrogen receptor (ER)−progesterone receptor (PR)−/human epidermal growth factor receptor 2 (HER2)−, and cytokeratin (CK)5/6+. This profile overlaps with that of mesothelial cells. This study of high‐grade breast carcinomas was undertaken to determine the expression of mesothelial markers.

Methods and results:  Immunohistochemistry was performed on 23 basal‐like breast carcinomas and 30 high‐grade breast carcinomas with variable ER, PR and HER2 expression. The incidence of staining of CK5/6, CK14, calretinin, Wilms’ tumour 1 (WT1), thrombomodulin and epithelial membrane antigen was assessed statistically. CK14 staining was more specifically associated with triple‐negative tumours than CK5/6. Calretinin positivity was statistically associated with basal‐like carcinomas. WT1 and thrombomodulin expression was infrequent and limited to a small number of non‐basal carcinomas.

Conclusions:  There is an overlap between the immunophenotype of mesothelial cells and that of basal‐like carcinomas of breast. Positive calretinin and CK5/6 are not specific, and may be seen in both mesothelial cells and basal‐like breast carcinomas. Negative ER and PR of basal carcinomas may also bias the observer against a breast origin. However, other negative mesothelial markers, such as WT1 and thrombomodulin, may help point to the correct diagnosis.
In breast cancer, a high ratio of tumour‐infiltrating intraepithelial CD8+ to FoxP3+ cells is characteristic for the medullary subtype
Authors: Anz David , Eiber Stephan , Scholz Christoph , Endres Stefan , Kirchner Thomas , Bourquin Carole , Mayr Doris
Published: November 2011

Anz D, Eiber S, Scholz C, Endres S, Kirchner T, Bourquin C & Mayr D  (2011) Histopathology59, 965–974

In breast cancer, a high ratio of tumour‐infiltrating intraepithelial CD8+ to FoxP3+ cells is characteristic for the medullary subtype

Aims:  Medullary breast cancer (MBC) is a biologically distinct subtype of breast cancer characterized by prominent lymphocytic infiltrates and a favourable clinical outcome. Tumour‐infiltrating CD8+ effector T cells may contribute to the good prognosis of this type of cancer; however, certain subtypes of lymphocyte, such as FoxP3+ regulatory T cells (Tregs), can also suppress antitumour immunity.

Methods and results:  We determined tumour infiltration by FoxP3+, CCL22+ and CD8+ cells in paraffin‐embedded sections of MBC, and, as a reference, in samples of grade 3 ductal, lobular and mucinous breast cancer. All analysed MBCs were strongly infiltrated by FoxP3+ cells, whereas only weak infiltrates were detected in ductal or lobular breast cancer. This finding was unexpected, given the good prognosis of MBC. Strikingly, the number of CD8+ T cells exceeded the number of FoxP3+ cells in MBC (ratio of CD8+ to FoxP3+ cells of 2.6), whereas equal amounts of both cell types were found in ductal breast cancer (ratio of CD8+ to FoxP3+ cells of 1.1). In both types of breast cancer, we also detected cells expressing the Treg‐attracting chemokine CCL22.

Conclusions:  In breast cancer, a predominance of tumour‐infiltrating CD8+ over FoxP3+ cells was observed in MBC. Thus, the ratio of CD8+ to FoxP3+ cells rather than the absolute number of intratumoral FoxP3+ cells may be predictive for the clinical outcome of cancer.
Complementary therapies in rehabilitation: nurses’ narratives. Part 1
Authors: van der Riet Pamela , Dedkhard Saowapa , Srithong Kannapatch
Published: November 2011

Aims and objectives.  To document the narratives of nursing staff in a Thai rehabilitation centre where complementary therapies are used and to discuss perceived progress of these complementary therapies on stroke patients. Specific complementary therapies used at this rehabilitation centre include Thai massage and herbal therapies.

Background.  In Thailand, there is cultural acknowledgement of a range of traditional therapies (including complementary therapies) widely used in Thai health care. For example, meditation enjoys wide acceptance in Thai culture and attracts strong participation from visitors to Thai Buddhist centres because of growing interest in developing a personal health regime for future preventative health problems.

Design.  Qualitative study using narrative inquiry and discourse analysis framed by poststructural theory.

Method.  Six nursing staff and six stroke patients were interviewed about their involvement in complementary therapy practice and treatments and their experiences of these therapies in rehabilitation. This paper reports the six nurses’ narratives of their involvement with patients and complementary therapies.

Results.  The overall findings revealed two strong themes: nurses’ professional landscape and changes in stroke patients’ embodiment. These two themes were interwoven in a main discourse of nurses attending to and enabling holistic care.

Conclusion.  The contexts of temporality, spatiality and other people influencing the progress of patients’ recovery are significant in this study. In particular, the findings illustrate the importance of the nurses’ discourse in preparing stroke patients for a state of readiness to heal.

Relevance to clinical practice.  The nurses’ role becomes much more significant in health care as demonstrated through these stories. Their part in establishing a holistic approach through motivating, advising, educating, calming and imparting a sense of family enables a strong connection with mind, body and spirit potentiating recovery for stroke patients.
Understorey diversity in southern boreal forests is regulated by productivity and its indirect impacts on resource availability and heterogeneity
Authors: Reich Peter B. , Frelich Lee E. , Voldseth Richard A. , Bakken Peter , Adair E. Carol
Published: November 2011

1. Understanding the relationship between species diversity and productivity is central to linking compositional and functional aspects of terrestrial ecosystems, and little is known about such issues in boreal forests. We used structural equation modelling (SEM) to test several hypotheses about direct and indirect influences of productivity, its correlate basal area, and resources on understorey vascular plant diversity on 2025 plots in 81 southern boreal forests in Minnesota, USA.

2. We first examined the hypothesis that increasing basal area reduces plot‐scale species richness due to competitive exclusion from the most limiting resource, light. As expected, light pre‐emption increased with total basal area, which directly reduced understorey species richness. However, complex relations between basal area, dominant understorey species, and resource supply to the understorey can also influence understorey communities. Hence, we addressed whether plots with low light availability in the understorey were associated with low abundance of dominant understorey species and alleviation of competitive exclusion of other understorey species. SEM results showed that low light decreased total understorey cover, alleviating resource competition from this stratum and thus increasing understorey species richness. Furthermore, the cover of four dominant understorey species was positively correlated with light availability and negatively correlated with plot‐scale species richness.

3. Aggregating data for the 25 plots at each stand, SEM showed that stand‐scale species richness was positively influenced by light heterogeneity, which in turn increased with annual above‐ground productivity.

4. Species richness was positively influenced by litter %N, considered an index of nitrogen availability at the plot and stand scale.

5. Synthesis. These results suggest that understorey species richness in boreal forests is regulated by productivity, but is primarily mediated by the indirect effects of productivity of the dominant producers on resource availability and heterogeneity.
Structure, composition and dynamics of a calcareous grassland metacommunity over a 70‐year interval
Authors: Newton Adrian C. , Walls Robin M. , Golicher Duncan , Keith Sally A. , Diaz Anita , Bullock James M.
Published: November 2011

1. Calcareous grasslands are communities of high conservation value, often characterized by high plant species richness. These grasslands have experienced a major decline in area throughout Europe, principally resulting from agricultural intensification. Although they have been the focus of extensive previous research, few attempts have been made to examine the long‐term dynamics of multiple communities at the landscape scale.

2. To assess long‐term change in the structure and composition of a calcareous grassland metacommunity, 88 extant sites first surveyed by R. Good in the 1930s were resurveyed in 2009. Values of α‐, β‐ and γ‐diversity were compared between the two surveys, using a one‐way analysis of similarity (ANOSIM) and non‐metric multidimensional scaling. Elements of metacommunity structure (EMS) analysis was used to identify metacommunity structure, and changes in metacommunity composition were related to plant traits.

3. Analyses indicated that α‐diversity increased over time, with mean (±SD) species richness per site increasing from 29.31 ± 7.65 in the 1930s to 40.18 ± 16.41 in 2009. No change in β‐diversity was recorded. However, γ‐diversity increased, with the total number of species rising from 219 in the 1930s to 280 in 2009. Species composition shifted over time, associated with a decline in ‘stress‐tolerant’ species typical of species‐rich calcareous grasslands, and an increase in species typical of mesotrophic grasslands. This was associated with an increase in mean Ellenberg N value, suggesting that eutrophication has been a driver of floristic change.

4. Elements of metacommunity structure analysis indicated that the structure of this grassland plant metacommunity was Clementsian at both survey times, indicating species sorting. Metacommunity structure was stable over time, despite changes in α‐ and γ‐diversity. Analysis of potential structuring mechanisms revealed a significant influence of elevation.

5. Synthesis. This investigation provides a rare example of the long‐term dynamics of a plant metacommunity. Results indicate that substantial change has occurred in the composition of calcareous grasslands during this time, both at local and regional scales. The investigation provides evidence of the impact of environmental change on immigration and extinction processes operating in calcareous grasslands at different scales, and highlights challenges for their future conservation.
Increased plant productivity in Alaskan tundra as a result of experimental warming of soil and permafrost
Authors: Natali Susan M. , Schuur Edward A. G. , Rubin Rachel L.
Published: November 2011

1. The response of northern tundra plant communities to warming temperatures is of critical concern because permafrost ecosystems play a key role in global carbon (C) storage, and climate‐induced ecological shifts in the plant community will affect the transfer of carbon‐dioxide between biological and atmospheric pools.

2. This study, which focuses on the response of tundra plant growth and phenology to experimental warming, was conducted at the Carbon in Permafrost Experimental Heating Research project, located in the northern foothills of the Alaska Range. We used snow fences coupled with spring snow removal to increase deep‐soil temperatures and thaw depth (winter warming), and open‐top chambers to increase summer air temperatures (summer warming).

3. Winter warming increased wintertime soil temperature (5–40 cm) by 2.3 °C, resulting in a 10% increase in growing season thaw depth. Summer warming significantly increased growing season air temperature; peak temperature differences occurred near midday when summer warming plots were approximately 1.0 °C warmer than ambient plots.

4. Changes in the soil environment as a result of winter warming treatment resulted in a 20% increase in above‐ground biomass and net primary productivity (ANPP), while there was no detected summer warming effect on ecosystem‐level ANPP or biomass. Both summer and winter warming extended the growing season through earlier bud break and delayed senescence, despite equivalent snow‐free days across treatments. As with ANPP, winter warming increased canopy N mass by 20%, while there was no summer warming effect on canopy N.

5. The warming‐mediated increase in N availability, coupled with phenological shifts, may have driven higher rates of ANPP in the winter warming plots, and the lack of ecosystem‐level N and ANPP response to summer warming suggest continued N limitation in the summer warming plots.

6. Synthesis: These results highlight the role of soil and permafrost dynamics in regulating plant response to climate change and provide evidence that warming may promote greater C accumulation in tundra plant biomass. While warming temperatures are expected to enhance microbial decomposition of the large pool of organic matter stored in tundra soils and permafrost, these respiratory losses may be offset, at least in part, by warming‐mediated increases in plant growth.
Digital correction of motion artefacts in microscopy image sequences collected from living animals using rigid and nonrigid registration
Authors: LORENZ K. S. , SALAMA P. , DUNN K. W. , DELP E. J.
Published: November 2011

Digital image analysis is a fundamental component of quantitative microscopy. However, intravital microscopy presents many challenges for digital image analysis. In general, microscopy volumes are inherently anisotropic, suffer from decreasing contrast with tissue depth, lack object edge detail and characteristically have low signal levels. Intravital microscopy introduces the additional problem of motion artefacts, resulting from respiratory motion and heartbeat from specimens imaged in vivo. This paper describes an image registration technique for use with sequences of intravital microscopy images collected in time‐series or in 3D volumes. Our registration method involves both rigid and nonrigid components. The rigid registration component corrects global image translations, whereas the nonrigid component manipulates a uniform grid of control points defined by B‐splines. Each control point is optimized by minimizing a cost function consisting of two parts: a term to define image similarity, and a term to ensure deformation grid smoothness. Experimental results indicate that this approach is promising based on the analysis of several image volumes collected from the kidney, lung and salivary gland of living rodents.
A 2D MEMS mirror with sidewall electrodes applied for confocal MACROscope imaging
Authors: BAI Y. , PALLAPA M. , CHEN A. , CONSTANTINOU P. , DAMASKINOS S. , WILSON B.C. , YEOW J.T.W.
Published: November 2011

This paper presents microelectromechanical system micromirrors with sidewall electrodes applied for use as a Confocal MACROscope for biomedical imaging. The MACROscope is a fluorescence and brightfield confocal laser scanning microscope with a very large field of view. In this paper, a microelectromechanical system mirror with sidewall electrodes replaces the galvo‐scanner and XYZ‐stage to improve the confocal MACROscope design and obtain an image. Two micromirror‐based optical configurations are developed and tested to optimize the optical design through scanning angle, field of view and numerical aperture improvement. Meanwhile, the scanning frequency and control waveform of the micromirror are tested. Analysing the scan frequency and waveform becomes a key factor to optimize the micromirror‐based confocal MACROscope. When the micromirror is integrated into the MACROscope and works at 40 Hz, the micromirror with open‐loop control possesses good repeatability, so that the synchronization among the scanner, XYZ‐stage and image acquisition can be realized. A laser scanning microscope system based on the micromirror with 2 μm width torsion bars was built and a 2D image was obtained as well. This work forms the experimental basis for building a practical confocal MACROscope.
Shape extraction of low‐textured objects in video microscopy
Authors: SAHAY R.R. , RAJAGOPALAN A.N.
Published: November 2011

Shape from focus is an elegant method that estimates the structure of a 3D object from a video of captured frames using the degree of focus as the principal cue. However, the quality of the estimated structure is vulnerable to scene texture. The effect is particularly pronounced for objects that are smooth relative to the magnification of the optical system. In this paper, the shape estimation process is cast as an inverse problem. We exploit spatial dependencies by modeling the shape of the object with a discontinuity‐adaptive Markov random field wherein the focus measure profile is used to judiciously control the degree of smoothness. The 3D information is obtained by minimizing a suitably derived energy function that preserves fine details of the underlying structure. We show by experimentation on several real‐world specimens that our method yields state‐of‐the‐art performance.
An interacting multiple model filter‐based autofocus strategy for confocal time‐lapse microscopy
Authors: CHOWDHURY S. , KANDHAVELU M. , YLI‐HARJA O. , RIBEIRO A.S.
Published: November 2011

Gene expression and other cellular processes are stochastic, thus their study requires observing multiple events in multiple cells. Therefore, confocal microscopy cell imaging has recently gained much interest. In time‐lapse imaging, adjustments are needed at short intervals to compensate for focus drift. There are several automated methods for this purpose. In general, before acquiring higher resolution images, software‐based autofocus algorithms require a set of low‐resolution images along the z‐axis to determine the plane for which a predefined focusing function is maximized. These algorithms require 10–100 z‐slices each time, and there is no fixed number or upper limit of required z‐slices that ensures optimal focusing. The higher is this number, the stronger is photo bleaching, hampering the feasibility of long‐time series measurements.

 We propose a new focusing strategy in time‐lapse imaging. The algorithm relies on the nature and predictability of the focus drift. We first show that the focus drift curve is predictable within a small error bound in standard experimental setups. We, then, exploit the interacting multiple model filter algorithm to predict the drift at time, t, based on the measurement at time t – 1. This allows a drastic reduction of the number of required z‐slices for focus drift correction, largely overcoming the problem of photo bleaching. In addition, we propose a new set of functions for focusing in time‐lapse imaging, derived from preexisting ones. We demonstrate the method's efficiency in time‐lapse imaging of Escherichia coli cells expressing MS2d‐GFP tagged RNA molecules.
Fatty acid binding protein 4 is expressed in distinct endothelial and non‐endothelial cell populations in glioblastoma
Authors: Cataltepe O. , Arikan M. C. , Ghelfi E. , Karaaslan C. , Ozsurekci Y. , Dresser K. , Li Y. , Smith T. W. , Cataltepe S.
Published: November 2011

O. Cataltepe, M. C. Arikan, E. Ghelfi, C. Karaaslan, Y. Ozsurekci, K. Dresser, Y. Li, T. W. Smith and S. Cataltepe (2012) Neuropathology and Applied Neurobiology38, 400–410

Fatty acid binding protein 4 is expressed in distinct endothelial and non‐endothelial cell populations in glioblastoma

Aims: Glioblastoma (GBM) is the most common and aggressive primary brain tumour in adults. Angiogenesis and vasculogenesis play key roles in progression of GBMs. Fatty acid binding protein 4 (FABP4) is an intracellular chaperone for free fatty acids. FABP4 is detected in microvascular endothelial cells (ECs) in several normal tissues and promotes proliferation of ECs. The goal of this study was to characterize the tissue distribution pattern of FABP4 in GBMs. Methods: Immunohistochemistry for FABP4 was performed on paraffin‐embedded tumour sections and the intensity and distribution of FABP4 immunoreactivity were analysed. Double immunofluorescence was employed for detailed characterization of FABP4‐positive cells. Results: FABP4 immunoreactivity was absent in normal brain tissue sections. FABP4‐positive cells were detected in 33%, 43%, 64% and 89% of Grade I, Grade II, Grade III and Grade IV glial tumours, respectively. Thus, the percentage of FABP4‐positive cells in GBMs was significantly higher than lower‐grade gliomas. In general, FABP4‐expressing cells were distributed in a non‐homogenous pattern, as ‘hot spots’ in glial tumours. FABP4 expression was detected in a subset of vascular ECs as well as some non‐ECs. Conclusion: FABP4 is expressed in a significantly higher percentage of GBMs in comparison to both normal brain tissues and lower‐grade glial tumours. FABP4 is expressed in some tumour ECs as well as non‐ECs in glial tumours. As FABP4 promotes proliferation of ECs, detection of FABP4 in GBM‐ECs, but not normal brain ECs suggests that FABP4 may play a role in the robust angiogenesis associated with GBMs.
Inheritance of photoperiodic induction of larval diapause in the Asian corn borer Ostrinia furnacalis
Authors: XIA QIN‐WEN , CHEN CHAO , TU XIAO‐YUN , YANG HUI‐ZHONG , XUE FANG‐SEN
Published: November 2011

The Asian corn borer Ostrinia furnacalis (Guenée) enters facultative diapause as fully‐developed larvae in response to short‐day conditions. As a consequence of geographical variation in photoperiodic response, moths from Nanchang (28°46′N, 115°50′E) enter diapause in response to short day‐lengths (D strain), even at the high temperatures whereas moths from Ledong (18°47′N, 108°89′E) exhibit almost no diapause under the same conditions (N strain). In the present study, crosses between the two strains are used to evaluate the inheritance of diapause under different photoperiods at temperatures of 22, 25 and 28 °C. The moths, both reciprocal crosses and backcrosses, show a clear long‐day response, similar to that of the D strain, suggesting that the photoperiodic response controlling diapause in this moth is heritable. However, the critical day‐length for induction of diapause is shorter in hybrids than in the D strain. The N strain also shows a short‐day photoperiodic response at the lower temperature of 22 °C, indicating that the N strain still has the capacity to enter a photoperiodically‐induced diapause, depending on the rearing temperature. The incidence of diapause in all crosses is highest with D strain fathers or grandfathers and lowest with N strain fathers or grandfathers, indicating that the male parent has significantly more influence on the incidence of diapause of subsequent progeny than the female. The results obtained from all crosses under LD 12 : 12 h or LD 13 : 11 h photocycles at 25 °C show that inheritance of diapause in O. furnacalis does not fit an additive hypothesis and that the capacity for diapause is transmitted genetically in the manner of incomplete dominance.
Light inhibition of leaf respiration in field‐grown Eucalyptus saligna in whole‐tree chambers under elevated atmospheric CO2 and summer drought
Authors: CROUS KRISTINE Y. , ZARAGOZA‐CASTELLS JOANA , ELLSWORTH DAVID S. , DUURSMA REMKO A. , LÖW MARKUS , TISSUE DAVID T. , ATKIN OWEN K.
Published: November 2011

We investigated whether the degree of light inhibition of leaf respiration (R) differs among large Eucalyptus saligna grown in whole‐tree chambers and exposed to present and future atmospheric [CO2] and summer drought. Associated with month‐to‐month changes in temperature were concomitant changes in R in the light (Rlight) and darkness (Rdark), with both processes being more temperature dependent in well‐watered trees than under drought. Overall rates of Rlight and Rdark were not significantly affected by [CO2]. By contrast, overall rates of Rdark (averaged across both [CO2]) were ca. 25% lower under drought than in well‐watered trees. During summer, the degree of light inhibition of leaf R was greater in droughted (ca. 80% inhibition) than well‐watered trees (ca. 50% inhibition). Notwithstanding these treatment differences, an overall positive relationship was observed between Rlight and Rdark when data from all months/treatments were combined (R2 = 0.8). Variations in Rlight were also positively correlated with rates of Rubisco activity and nitrogen concentration. Light inhibition resulted in a marked decrease in the proportion of light‐saturated photosynthesis respired (i.e. reduced R/Asat). Collectively, these results highlight the need to account for light inhibition when assessing impacts of global change drivers on the carbon economy of tree canopies.
The introduction of a choice to learn pre‐symptomatic DNA test results for BRCA or Lynch syndrome either face‐to‐face or by letter
Authors: Voorwinden JS , Jaspers JPC , ter Beest JG , Kievit Y , Sijmons RH , Oosterwijk JC
Published: November 2011

Voorwinden JS, Jaspers JPC, ter Beest JG, Kievit Y, Sijmons RH, Oosterwijk JC. The introduction of a choice to learn pre‐symptomatic DNA test results for BRCA or Lynch syndrome either face‐to‐face or by letter.

In predictive DNA testing for hereditary cancer, test results should traditionally be disclosed face‐to‐face. Increasingly, however, counselees ask to receive their test result at home by letter. To compare the quality of genetic counselling in the traditional way to a procedure in which counselees are offered a choice on how to get their test result. Counselees from families with a known BRCA1/2 or Lynch syndrome mutation were randomised into two groups. The control group was given the DNA test result in a face‐to‐face consultation. In the intervention group people could choose to learn their test result face‐to‐face or by letter. The quality of genetic counselling was assessed through questionnaires at three different moments. Data of 198 counselees were analysed. The quality of genetic counselling and psychological functioning were equally good in both groups. The majority of cases chose for disclosure by letter. The counselees with a good test result in the intervention group were the most satisfied. Our results indicate that in predictive DNA testing for BRCA1/2 and Lynch syndrome, a choice protocol is equally safe and more satisfying. Moreover, it is more efficient for both counsellor and counselee.
Liver transplantation for refractory severe pruritus related to widespread multifocal hepatic focal nodular hyperplasia (FNH) in a child: Case report and review of literature
Authors: Merli L. , Grimaldi C. , Monti L. , Nobili V. , Francalanci P. , de Ville de Goyet J.
Published: November 2011

Merli L, Grimaldi C, Monti L, Nobili V, Francalanci P, de Ville de Goyet J. Liver transplantation for refractory severe pruritus related to widespread multifocal hepatic focal nodular hyperplasia (FNH) in a child: Case report and review of literature.  Pediatr Transplantation 2011. © 2011 John Wiley & Sons A/S.

Abstract:  FNH is a rare and benign tumor of the liver. It is not a conventional indication for liver transplantation, and no transplant for FNH in a child has been reported to date. Multifocal FNH growing in adolescent age to a widespread tumor invading the whole liver and associated with severe refractory pruritus was an unusual indication for transplantation in a 13‐yr‐old girl. The operation and the follow‐up were uneventful, allowing full recovery and disappearance of pruritus.
A single‐center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD)
Authors: DiNardo Laura , Brown Valerie , Perez Elena , Bunin Nancy , Sullivan Kathleen E.
Published: November 2011

DiNardo L, Brown V, Perez E, Bunin N, Sullivan KE. A single‐center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD).  Pediatr Transplantation 2012: 16: 63–72. © 2011 John Wiley & Sons A/S.

Abstract:  PIDD are rare inherited disorders that can result in life‐threatening infections. Allogeneic HSCT is the only cure for many primary immune deficiencies; however, the specific diseases and optimal type(s) of transplants are not clear. This study compares transplant outcomes in a large cohort with a relatively uniform pre‐ and post‐transplant management strategies. We conducted a retrospective analysis of 39 pediatric patients who underwent HSCT for SCID (n = 25) or other immune deficiencies (n = 14) from 1986 to 2010. A structured case report form was used to collect clinical information. The outcomes of survival, immune reconstitution, engraftment, incidence of GvHD and IVIG dependency were tabulated. Overall survival rates were 88% for SCID and 86% for other primary immune deficiencies, which are high compared to other historical series. No single variable was associated with mortality. Immunoglobulin dependence occurred only in patients who had X‐linked SCID and a parental donor haploidentical transplant. Because of improved supportive care and use of alternative donors and conditioning regimens, HSCT has become an acceptable option for an increasing number of PIDD subtypes not previously transplanted with high frequency. This study encourages greater use of transplantation.
Strength, diversity and plasticity of postmating reproductive barriers between two hybridizing oak species (Quercus robur L. and Quercus petraea (Matt) Liebl.)
Authors: ABADIE P. , ROUSSEL G. , DENCAUSSE B. , BONNET C. , BERTOCCHI E. , LOUVET J.‐M. , KREMER A. , GARNIER‐GÉRÉ P.
Published: November 2011

Very little is known about the nature and strength of reproductive isolation (RI) in Quercus species, despite extensive research on the estimation and evolutionary significance of hybridization rates. We characterized postmating pre‐ and postzygotic RI between two hybridizing oak species, Quercus robur and Quercus petraea, using a large set of controlled crosses between different genotypes. Various traits potentially associated with reproductive barriers were quantified at several life history stages, from pollen–pistil interactions to seed set and progeny fitness‐related traits. Results indicate strong intrinsic postmating prezygotic barriers, with significant barriers also at the postzygotic level, but relatively weaker extrinsic barriers on early hybrid fitness measures assessed in controlled conditions. Using general linear modelling of common garden data with clonal replicates, we showed that most traits exhibited important genotypic differences, as well as different levels of sensitivity to micro‐environmental heterogeneity. These new findings suggest a large potential genetic diversity and plasticity of reproductive barriers and are confronted with hybridization evidence in these oak species.
Post‐mating prezygotic barriers to gene exchange between hybridizing field crickets
Authors: LARSON E. L. , HUME G. L. , ANDRÉS J. A. , HARRISON R. G.
Published: November 2011

Studies of sexual selection in speciation have traditionally focused on mate preference, with less attention given to traits that act between copulation and fertilization. However, recent work suggests that post‐mating prezygotic barriers may play an important role in speciation. Here, we evaluate the role of such barriers in the field crickets, Gryllus firmus and Gryllus pennsylvanicus. Gryllus pennsylvanicus females mated with G. firmus males produce viable, fertile offspring, but when housed with both species produce offspring sired primarily by conspecifics. We evaluate patterns of sperm utilization in doubly mated G. pennsylvanicus females and find no evidence for conspecific sperm precedence. The reciprocal cross (G. firmus female × G. pennsylvanicus male) produces no progeny. Absence of progeny reflects a barrier to fertilization rather than reduced sperm transfer, storage or motility. We propose a classification scheme for mechanisms underlying post‐mating prezygotic barriers similar to that used for premating barriers.
Are reptile and amphibian species younger in the Northern Hemisphere than in the Southern Hemisphere?
Authors: DUBEY S. , SHINE R.
Published: November 2011

A previous analysis of molecular phylogenies suggested that intraspecific diversification had occurred more recently in temperate‐zone Northern Hemisphere reptiles and amphibians than in Southern Hemisphere taxa. Here, we test potential explanations for this pattern. We examined published phylogenetic analyses, derived from genetic sequence data, to generate two estimates of the age of species: (i) the oldest intraspecific diversification event within each taxon and (ii) the inferred timing of the split between two sister species. The timing of splits between species shows the same pattern as splits within species, and thus may be due to climatically driven cladogenic and extinction events or may be an artefact of differing levels of taxonomic knowledge about the fauna. Current rates of species descriptions suggest that many more taxa remain to be described in the Southern Hemisphere than the Northern Hemisphere; for that bias to fully explain our results on species age differences, the proportion of undescribed Southern taxa would need to be ≥ 12% in reptiles and ≥ 51% in anurans. For reptiles, taxonomic ignorance plausibly explains the apparent difference in mean age of species between the Southern and Northern Hemispheres; but this explanation can apply to amphibians only if a vast number of Southern taxa remain to be described.
Additional pea EST‐SSR markers for comparative mapping in pea (Pisum sativum L.)
Authors: De Caire Jason , Coyne Clarice J. , Brumett Sarah , Shultz Jeffry L.
Published: November 2011

With 1 figure and 1 table

The availability of a large set of molecular markers is an excellent resource for both applied and basic research for any organism. The current consensus molecular map of pea is 1430 cM and contains 239 simple sequence repeat markers. The goal was to identify and test unique gene‐based simple sequence repeat markers to increase the available number for comparative mapping with sequenced legume species. A total of 6327 mRNA sequences were screened using a JAVA algorithm, culminating in the design of 96 novel, gene‐based simple sequence repeat markers. The markers were tested for polymorphism between the parents of two recombinant inbred line mapping populations (Early Freezer 680 × PI 269818 and C580257A × 74SN3A) and 11 additional pea lines. A total of 45 new EST‐SSR polymorphic markers were identified using these test lines, another 35 were monomorphic and the remaining 16 failed or produced substandard amplification profiles. Linkage map locations are presented for seven of the new EST‐SSR markers. Primer sequence, repeat type, status within tested genotypes and the SSR‐finding algorithm are presented.
Scutellarin inhibits translocation of protein kinase C in diabetic thoracic aorta of the rat
Authors: Su Yingxue , Liu Wei , Ma Li , Liu Xiaochang , Liu Zhaochun , Zhu Banghao
Published: November 2011

1. The aims of the present study were to explore the effects of: (i) scutellarin (Scu) on protein kinase C (PKC) translocation caused by diabetic conditions in diabetic rat thoracic aorta; and (ii) phorbol‐12‐myristate‐13‐acetate (PMA) treatment of cultured thoracic aortic smooth muscle cells.

2. Diabetes was induced in rats by streptozotocin and diabetic rats were divided into two groups: (i) an Scu‐treated group, administered 0.1 g/kg Scu by gavage; and (ii) an aminoquanidine (AG)‐treated group, which received dietary supplementation of 0.1% AG from Week 1 of diabetes induction. After 10 weeks, rats were killed and thoracic aortic smooth muscle cells were isolated and cultured. Cell fractions were obtained by ultracentrifugation and PKC activity was assayed by ELISA, whereas the distribution of PKC was verified by western immunoblotting.

3. The PKC activity in the membrane fraction of thoracic aortic smooth muscle cells was significantly increased in diabetic compared with control rats, whereas the administration of Scu significantly inhibited this increase. Phorbol myristate acetate (100 nmol/L, 10 min) induced the translocation of the PKCα, βI, βII, δ and ε isoforms, whereas 48 h pretreatment of cells with 1 μmol/L Scu significantly inhibited PMA‐induced PKCβI, βII and δ translocation.

4. The results of the present study suggest that Scu inhibits the translocation of PKC in vivo and in vitro and may have value as a drug in the treatment of diabetic complications via its inhibition of PKC βI, βII and δ translocation.
Neonatal respiratory consequences from water birth
Authors: Carpenter Lee , Weston Phil
Published: November 2011

Aim:  Differentiating features were sought for respiratory distress after water birth versus air birth in term low‐risk babies. Clinical and X‐ray features were to be assessed to determine if the disease processes could be differentiated.

Methods:  Review of case records and X‐rays over a 7‐year period for all admitted babies with respiratory distress after water birth and a similar group of babies with respiratory distress after air birth.

Results:  There were 14 water birth babies and 24 air birth babies in the study. The water birth babies showed greater acidosis, greater requirement for ventilation, greater requirement for nitric oxide treatment and greater time to establish feeding. The X‐rays could not be reliably allocated to the correct group, but the water birth X‐rays were judged to have more severe changes than the air birth babies.

Conclusion:  In low‐risk babies with respiratory distress, water birth is associated with a greater level of respiratory morbidity than seen after air birth.
Cardiovascular support in preterm infants: A survey of practices in Australia and New Zealand
Authors: Sehgal Arvind , Osborn David , McNamara Patrick J
Published: November 2011

Aim:  Management of haemodynamic instability in premature neonates and selection of inotropic therapy are protocol driven, and therapeutic choices lack scientific validation. The aim of this study was to characterise practices related to the management of haemodynamic instability in premature infants.

Methods:  An electronic web‐based questionnaire was emailed to all neonatologists and advanced trainees in Australia and New Zealand. Respondents were presented with a series of questions related to the management of hypotension in a 1‐day‐old, extremely low birthweight infant, and opinions were collected.

Results:  Survey response rate was 65% (114/176). Haemodynamically significant ductus arteriosus, systemic blood flow and left ventricular afterload were considered the most important physiologic concepts by 81, 68 and 50%, respectively. After initial crystalloid replacement, the next step in management reported included a second bolus (35%), dobutamine (28%), dopamine (17%) or clinician‐performed cardiac ultrasound (CPCU) (20%). In the setting of hypotension resistant to dobutamine and dopamine, the most common strategies were to perform CPCU (57%), or administer hydrocortisone (39%), epinephrine (3.5%) or milrinone (<1%). The majority (66%) of respondents felt that premature infants are over‐treated on the basis of presumed hypotension, while 83% felt that performing a CPCU would enhance clinical decision‐making.

Conclusions:  Wide variation in the approach to management of haemodynamic instability in extremely low birthweight infants was identified. Haemodynamic information provided by a CPCU was considered highly desirable by the majority of the respondents.
Comparison of body mass index and triceps skinfold at 5 years and young adult body mass index, waist circumference and blood pressure
Authors: Liddle Karen , O'Callaghan Michael , Mamun Abdullah , Najman Jake , Williams Gail
Published: November 2011

Aim:  To examine which measure of obesity at 5 years, body mass index (BMI) or triceps skinfold thickness, is most strongly associated with 21‐year risk factors for cardiovascular disease (CVD), including BMI, waist circumference (WC), systolic blood pressure (SBP) and diastolic blood pressure (DBP).

Methods:  Longitudinal birth cohort study with BMI and triceps skinfold measurements at age 5, and BMI, WC and blood pressure at 21 years. Overweight and obesity at 5 years were determined according to Cole‐International Obesity Task Force standards, at 21, by World Health Organization definitions. Triceps skinfold thickness measurements were converted to a z‐score, and cut‐offs for overweight and obesity were chosen to reflect similar proportions to the BMI subgroups. BMI, WC, SBP and DBP were also measured at 21 years.

Results:  Five‐year BMI and triceps skinfold thickness were both significantly associated with the CVD risk measures at 21 years. For overweight/obesity at 5 years, the adjusted odds ratio (95% confidence interval) for 21‐year overweight/obesity was 5.6 (4.2, 7.4), for 21‐year WC was 1.5 (1.2, 2.0). Mean difference (95% CI) in BMI was 4.4 (3.9, 5.0), in WC 8.3 cm (6.8, 9.8), in SBP 2.4 mm Hg (0.5, 4.3), in DBP 1.1 mm Hg (0.1, 2.2). For skinfold, the similar findings were odds ratio 2.6 (2.0, 3.4) and 1.2 (0.9, 1.6) for 21‐year BMI and WC, and mean differences of 2.6 (2.0, 3.2), WC 4.8 cm (3.3, 6.3), SBP 2.3 mm Hg (0.5, 4.2) and DBP 0.7 mm Hg (−0.4, 1.8).

Conclusions:  In children with overweight/obesity, BMI rather than triceps skinfold is the preferred epidemiological measure for identifying young adult CVD risk markers of BMI, WC and blood pressure.
Are respiratory complications common causes of death in inflammatory myopathies? An autopsy study
Authors: MALDONADO FABIEN , PATEL RAJESH R. , IYER VIVEK N. , YI EUNHEE S. , RYU JAY H
Published: November 2011

Background and objective:  Polymyositis (PM) and dermatomyositis (DM) are idiopathic inflammatory myopathies that are associated with a variety of clinical manifestations including pulmonary complications. The objective of the present study was to determine the causes of deaths in this complex patient population.

Methods:  A computer‐assisted search of medical and autopsy records identified a total of 39 patients with either PM or DM who underwent an autopsy at the Mayo Clinic (Rochester, MN, USA) over a 29‐year period from 1 January 1981 to 31 December 2009. The immediate causes of death along with contributing causes were determined by reviewing all available clinical data and autopsy findings. We also analysed the discordance between ante‐mortem clinical diagnoses provided by clinicians and the final diagnosis by the post‐mortem analysis.

Results:  Respiratory (33%), infectious (28%) and cardiovascular diseases (26%) accounted for the majority of immediate causes of death. Acute exacerbation of chronic interstitial lung disease (15%) and bronchopneumonia (15%) were the most common specific causes. Immediate cause of death was not suspected in nearly one third of cases and included bronchopneumonia, sepsis, acute myocardial infarction, aspiration pneumonia, pulmonary embolism, aortic stenosis, mycotic aneurysm rupture and acute haemoperitoneum.

Conclusions:  We conclude that pulmonary injury is the immediate cause of death in one third of patients with PM/DM; acute exacerbation of chronic interstitial lung disease and bronchopneumonia were the most common specific causes. Immediate cause of death was not established ante‐mortem in nearly one third of cases, and some of these causes were treatable.
Cutaneous ureterostomy using the transverse mesocolon
Authors: Furubayashi Nobuki , Nakamura Motonobu , Hishikawa Ken , Fukuda Atushi , Matumoto Takashi , Hasegawa Yoshihiro
Published: November 2011

Cutaneous ureterostomy cannot be carried out by the retroperitoneal method in cases showing an insufficient length of the available ureter. We therefore proposed and carried out cutaneous ureterostomy transperitoneally on a ureter of minimum length using the transverse mesocolon. The right and left ureters are drawn from the retroperitoneum into the peritoneal cavity in the renal hilus area. The right ureter is then led from the root of the transverse mesocolon to the area attached to the transverse colon under the subserous part of the transverse mesocolon, and penetrates the gastrocolic ligament. The left ureter is led to the area attached to the transverse mesocolon under the subserous part of the transverse mesocolon, and penetrates the transverse mesocolon, bursa omentalis and gastrocolic ligament. Next, both the right and left ureters are drawn up to the abdominal wall and a ureterstoma is constructed. The transverse mesocolon can be used as supporting tissue for the ureter. Furthermore, this also ensures blood flow in the ureter.