bluuebunny/crossref_metadata_2025 huggingface dataset:
UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013)
Authors: Szczepura A. , Wynn S. , Searle B. , Khan A.J. , Palmer T. , Biggerstaff D. , Elliott J. , Hultén M.A.
Published: January 2018

The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challenging group to include. We report the findings of 2 large‐scale surveys, undertaken by the UK RCD Support Group Unique, of these families' experiences over a 10‐year period. Seven stages of the patient journey were examined. From pre‐testing, through diagnosis, genetics consultation, clinical follow‐up and peer support. Overall, 1158 families replied; 36.4% response rate (2003) and 53.6% (2013). Analysis of responses identifies significant differences (P < .001) over time with a decrease in results reported face to face (76%‐62%), doubling by telephone (12%‐22%), improved explanation of chromosome disorder (57%‐75%), and increased signposting to peer support group (34%‐62%). However, conduct of the consultation raises a number of important questions. Overall, 28 aspects of the patient journey are recognised as requiring improvement; only 12/28 are currently incorporated in UK service specifications. Involvement of RCD families has identified key service improvements. This approach can empower those affected by such extremely rare disorders, and also enable professionals to design improved services in partnership with “expert families.” Further surveys are planned.
Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy
Authors: Meldau S. , De Lacy R.J. , Riordan G.T.M. , Goddard E.A. , Pillay K. , Fieggen K.J. , Marais A.D. , Van der Watt G.F.
Published: January 2018

MPV17‐related mitochondrial neurohepatopathy is a rare genetic disorder worldwide. We report on a novel pathogenic variant in the MPV17 gene in 24 unrelated neurohepatopathic infants of non‐consanguineous Black South African heritage.

Exome sequencing identified homozygosity for a c.106C>T nonsense variant in exon 3 of the human MPV17 gene in 2 unrelated index patients. mRNA analysis revealed transcripts both with and without exon 3, indicating both reduced splice efficiency and premature termination as mechanisms for disease. Carrier frequency in this population was found to be 1 in 68 (95% CI; 1/122‐1/38) with an estimated newborn incidence of 1 in 18 496 (95% CI; 1/59 536‐1/5776). Affected infants all presented with infantile onset neurohepatopathy with none surviving beyond infancy. This description of a relatively common pathogenic variant underlying a previously uncharacterized severe neurohepatopathy in South Africa will engender increased awareness, earlier diagnosis and possibly improve outcome if preventative or specific therapeutic options can be found.
Lateral bone augmentation in narrow posterior mandibles, description of a novel approach, and analysis of results
Authors: Beitlitum Ilan , Sebaoun Alon , Nemcovsky Carlos E. , Slutzkey Shimshon
Published: January 2018

Background

Combination of particulate grafts and collagen membranes is widely used for augmentation of bony defects for implant placement. Fixation of the barrier membrane may avoid complications due to unfavorable mechanical properties and poor stability leading to collapse of the augmented area.

Purpose

To evaluate a new simplified method for resorbable collagen membrane fixation in lateral bone augmentation procedures in narrow posterior mandibles.

Materials and Methods

This retrospective study analyzed 16 procedures performed in 15 patients who followed lateral ridge augmentation procedures before implant placement in the posterior mandible. A particulate mineralized bone allograft was covered with a cross‐linked resorbable collagen barrier membrane, which was fixated with a single, nonresorbable pin. Complications were registered and results analyzed on pre and post op measurements on computerized tomographic scans. Descriptive statistical analysis and ANOVA with repeated measures were performed.

Results

No complications were recorded. Average bone gain was 3.3 mm at implant platform level and 4.29 mm at 3 mm apically, both, statistically significant. All sites had sufficient bone width allowing implant placement. Thirty‐three implants placed in the augmented areas, integrated and survived for over a 2‐year follow‐up.

Conclusion

The simplified membrane fixation procedure enables large horizontal bone gain with minimal complications while allowing adequate implant placement.
Divalproex sodium modulates nuclear localization of ataxin‐3 and prevents cellular toxicity caused by expanded ataxin‐3
Authors: Wang Zi‐Jian , Hanet Aoife , Weishäupl Daniel , Martins Inês M. , Sowa Anna S. , Riess Olaf , Schmidt Thorsten
Published: January 2018

Background & Aims

Spinocerebellar ataxia type 3 (SCA3), also known as Machado‐Joseph disease (MJD), is an autosomal dominantly inherited neurodegenerative disorder and the most common form of SCA worldwide. It is caused by the expansion of a polyglutamine (polyQ) tract in the ataxin‐3 protein. Nuclear localization of the affected protein is a key event in the pathology of SCA3 via affecting nuclear organization, transcriptional dysfunction, and seeding aggregations, finally causing neurodegeneration and cell death. So far, there is no effective therapy to prevent or slow the progression of SCA3.

Methods

In this study, we explored the effect of divalproex sodium as an HDACi in SCA3 cell models and explored how divalproex sodium interferes with pathogenetic processes causing SCA3.

Results

We found that divalproex sodium rescues the hypoacetylation levels of histone H3 and attenuates cellular cytotoxicity induced by expanded ataxin‐3 partly via preventing nuclear transport of ataxin‐3 (particularly heat shock‐dependent).

Conclusion

Our study provides novel insights into the mechanisms of action of divalproex sodium as a possible treatment for SCA3, beyond the known regulation of transcription.
Improving text relatedness by incorporating phrase relatedness with word relatedness
Authors: Rakib Rashadul Hasan , Islam Aminul , Milios Evangelos
Published: January 2018

Text is composed of words and phrases. In the bag‐of‐words model, phrases in text are split into words. This may discard the semantics of phrases, which, in turn, may give an inconsistent relatedness score between 2 texts. Our objective is to apply phrase relatedness in conjunction with word relatedness on the text relatedness task to improve text relatedness performance. We adopt 2 existing word relatedness measures based on Google n‐gram and Global Vectors for Word Representation, respectively, and incorporate them differently with an existing Google n‐gram–based phrase relatedness method to compute text relatedness. The combination of Google n‐gram–based word and phrase relatedness performs better than Google n‐gram–based word relatedness alone, by achieving the higher weighted mean of Pearson's r, ie, 0.639 and 0.619, respectively, on the 14 data sets from the series of Semantic Evaluation workshops SemEval‐2012, SemEval‐2013, and SemEval‐2015. Similarly, the combination of GloVe‐based word relatedness and Google n‐gram–based phrase relatedness performs better than GloVe‐based word relatedness alone, by achieving the higher weighted mean of Pearson's r, ie, 0.619 and 0.605, respectively, on the same 14 data sets. On the SemEval‐2012, SemEval‐2013, and SemEval‐2015 data sets, the text relatedness results obtained from the combination of Google n‐gram–based word and phrase relatedness ranked 24, 3, and 31 out of 89, 90, and 73 text relatedness systems, respectively.
Heart rate variability and baroreflex sensitivity in bilateral lung transplant recipients
Authors: Fontolliet Timothée , Gianella Pietro , Pichot Vincent , Barthélémy Jean‐Claude , Gasche‐Soccal Paola , Ferretti Guido , Lador Frédéric
Published: January 2018

The effects of lung afferents denervation on cardiovascular regulation can be assessed on bilateral lung transplantation patients. The high‐frequency component of heart rate variability is known to be synchronous with breathing frequency. Then, if heart beat is neurally modulated by breathing frequency, we may expect disappearance of high frequency of heart rate variability in bilateral lung transplantation patients. On 11 patients and 11 matching healthy controls, we measured R‐R interval (electrocardiography), blood pressure (Portapres®) and breathing frequency (ultrasonic device) in supine rest, during 10‐min free breathing, 10‐min cadenced breathing (0·25 Hz) and 5‐min handgrip. We analysed heart rate variability and spontaneous variability of arterial blood pressure, by power spectral analysis, and baroreflex sensitivity, by the sequence method. Concerning heart rate variability, with respect to controls, transplant recipients had lower total power and lower low‐ and high‐frequency power. The low‐frequency/high‐frequency ratio was higher. Concerning systolic, diastolic and mean arterial pressure variability, transplant recipients had lower total power (only for cadenced breathing), low frequency and low‐frequency/high‐frequency ratio during free and cadenced breathing. Baroreflex sensitivity was decreased. Denervated lungs induced strong heart rate variability reduction. The higher low‐frequency/high‐frequency ratio suggested that the total power drop was mostly due to high frequency. These results support the hypothesis that neural modulation from lung afferents contributes to the high frequency of heart rate variability.
Lymphangioma circumscriptum of the tongue: A case with marked hemorrhagic component
Authors: Alrashdan Mohammad S. , Hammad Huda M. , Alzumaili Bayan A. I. , Alorjani Mohammed
Published: January 2018

Lymphangioma circumscriptum (LC) is considered a superficial variant of lymphangioma with characteristic small lymphatic channels. Diagnosis is routinely made through histopathology in addition to immunostaining. An unusual case of LC presenting as a painless overgrowth of the tongue in a middle‐aged male is reported, with emphasis on the clinical and histopathological differential diagnosis.
Comparison of defence and performance traits between one widespread clone and native populations in a major invasive plant species
Authors: Rouifed Soraya , Puijalon Sara , Bardon Clément , Meiffren Guillaume , Buonomo Antoine , Sebei Nadia , Poussineau Sophie , Vallier Félix , Shimoda Michiko , Piola Florence
Published: January 2018

Aim

The success of invasive species in their introduced range is often assumed to result from evolutionary changes in defence and growth traits, or as a response to more favourable conditions. The latter is assumed particularly for species exhibiting low, or even no, sexual reproduction in the introduced range.

Location and Methods

Here, we compared Japanese (native range) and French (introduced range) populations of Fallopia japonica under common growth conditions in a glasshouse. We measured height, aboveground and belowground mass, stem stiffness, leaf toughness and secondary metabolites found in hydroalcoholic extracts of rhizomes of F. japonica, as well as the competitive response of Rubus caesius (a co‐occurring native species in the invaded range) in the presence of F. japonica from both ranges.

Results

Aboveground biomass, height, stem stiffness and composition of secondary metabolites were not significantly different between the two ranges, showing that increased aboveground vigour observed in situ in France is probably the result of a plastic response following the release of abiotic or biotic constraints from the native range. On the other hand, belowground mass, effect on R. caesius, and leaf toughness were all higher in French populations, suggesting increases in competitive ability and defence mechanisms. These differences between France and Japan may be explained either by post‐introduction evolution or by the introduction in Europe, in nineteenth century, of an exceptionally vigorous clone (pre‐adaptation).

Main conclusions

Our results provide evidence that the high vigour of this major invasive species in its introduced range is probably due to both a response to more favourable conditions and rapid evolution.
Paediatric Rehabilitation Ingredients Measure (PRISM): planning the content of rehabilitation
Authors: Autti‐Rämö Ilona
Published: January 2018

This commentary is on the original article by Forsyth et al. on pages 299–305 of this issue.
Effects of exenatide once weekly plus dapagliflozin, exenatide once weekly, or dapagliflozin, added to metformin monotherapy, on body weight, systolic blood pressure, and triglycerides in patients with type 2 diabetes in the DURATION‐8 study
Authors: Jabbour Serge A. , Frías Juan P. , Guja Cristian , Hardy Elise , Ahmed Azazuddin , Öhman Peter
Published: January 2018

This post hoc analysis assessed the effects on cardiovascular risk factors of body weight, systolic blood pressure (SBP) and triglycerides after 28 weeks’ treatment with exenatide once weekly plus dapagliflozin, as compared with exenatide once weekly or dapagliflozin, in patient subpopulations from the DURATION‐8 trial of patients with type 2 diabetes mellitus (T2DM) inadequately controlled with metformin alone. Subgroups of patients were stratified according to their baseline body weight, SBP and triglyceride levels. Body weight, SBP and triglyceride levels were reduced across most respective subgroups, with no significant subgroup‐by‐treatment interactions. For each treatment, weight loss was numerically greater as baseline body mass index increased. SBP reductions were greater among patients with SBP ≥140 vs <140 mm Hg for exenatide once weekly plus dapagliflozin and exenatide once weekly. Reductions in triglyceride levels were greater among patients with baseline triglycerides <1.69 vs ≥1.69 mmol/L for each treatment. The combination of exenatide once weekly plus dapagliflozin reduced cardiovascular risk factors across baseline subgroups for each variable to a greater extent than did either individual drug; the greatest effects were observed in the high baseline subgroups for body weight and SBP.
Sustained high‐fat diet modulates inflammation, insulin signalling and cognition in mice and a modified xenin peptide ameliorates neuropathology in a chronic high‐fat model
Authors: Denver Paul , Gault Victor A. , McClean Paula L.
Published: January 2018

Aims

To demarcate pathological events in the brain as a result of short‐term to chronic high‐fat‐diet (HFD) feeding, which leads to cognitive impairment and neuroinflammation, and to assess the efficacy of Xenin‐25[Lys(13)PAL] in chronic HFD‐fed mice.

Methods

C57BL/6 mice were fed an HFD or a normal diet for 18 days, 34 days, 10 and 21 weeks. Cognition was assessed using novel object recognition and the Morris water maze. Markers of insulin signalling and inflammation were measured in brain and plasma using immunohistochemistry, quantitative PCR and multi‐array technology. Xenin‐25[Lys(13)PAL] was also administered for 5 weeks in chronic HFD‐fed mice to assess therapeutic potential at a pathological stage.

Results

Recognition memory was consistently impaired in HFD‐fed mice and spatial learning was impaired in 18‐day and 21‐week HFD‐fed mice. Gliosis, oxidative stress and IRS‐1 pSer616 were increased in the brain on day 18 in HFD‐fed mice and were reduced by Xenin‐25[Lys(13)PAL] in 21‐week HFD‐fed mice. In plasma, HFD feeding elevated interleukin (IL)‐6 and chemokine (C‐X‐C motif) ligand 1 at day 34 and IL‐5 at week 10. In the brain, HFD feeding reduced extracellular signal‐regulated kinase 2 (ERK2), mechanistic target of rapamycin (mTOR), NF‐κB1, protein kinase C (PKC)θ and Toll‐like receptor 4 (TLR4) mRNA at week 10 and increased expression of glucacon‐like peptide‐1 receptor, inhibitor of NF‐κB kinase β, ERK2, mTOR, NF‐κB1, PKCθ and TLR4 at week 21, elevations that were abrogated by Xenin‐25[Lys(13)PAL].

Conclusions

HFD feeding modulates cognitive function, synapse density, inflammation and insulin resistance in the brain. Xenin‐25[Lys(13)PAL] ameliorated markers of inflammation and insulin signalling dysregulation and may have therapeutic potential in the treatment of diseases associated with neuroinflammation or perturbed insulin signalling in the brain.
Artificial light at night confounds broad‐scale habitat use by migrating birds
Authors: McLaren James D. , Buler Jeffrey J. , Schreckengost Tim , Smolinsky Jaclyn A. , Boone Matthew , Emiel van Loon E. , Dawson Deanna K. , Walters Eric L.
Published: January 2018

With many of the world's migratory bird populations in alarming decline, broad‐scale assessments of responses to migratory hazards may prove crucial to successful conservation efforts. Most birds migrate at night through increasingly light‐polluted skies. Bright light sources can attract airborne migrants and lead to collisions with structures, but might also influence selection of migratory stopover habitat and thereby acquisition of food resources. We demonstrate, using multi‐year weather radar measurements of nocturnal migrants across the northeastern U.S., that autumnal migrant stopover density increased at regional scales with proximity to the brightest areas, but decreased within a few kilometers of brightly‐lit sources. This finding implies broad‐scale attraction to artificial light while airborne, impeding selection for extensive forest habitat. Given that high‐quality stopover habitat is critical to successful migration, and hindrances during migration can decrease fitness, artificial lights present a potentially heightened conservation concern for migratory bird populations.
Effect of dimethyl fumarate on gray and white matter pathology in subjects with relapsing multiple sclerosis: a longitudinal study
Authors: Zivadinov R. , Hagemeier J. , Bergsland N. , Tavazzi E. , Weinstock‐Guttman B.
Published: January 2018

Background and purpose

Dimethyl fumarate (DMF) is an oral treatment for relapsing‐remitting multiple sclerosis (MS) with anti‐inflammatory and possible neuroprotective properties. Its effect on white matter and gray matter pathology is still not fully understood. The aim of the study was to characterize the effect of DMF on normal‐appearing white matter (NAWM) and thalamic pathology longitudinally.

Methods

In this observational, longitudinal, 24‐month magnetic resonance imaging study, 75 patients with relapsing‐remitting MS treated with DMF and 40 age‐ and sex‐matched healthy individuals were enrolled. Regional diffusion tensor imaging metrics and tract‐based spatial statistics analyses were used to assess differences between groups. Mean diffusivity, axial diffusivity, radial diffusivity and fractional anisotropy were measured in the thalamus and NAWM. Baseline differences and changes over time were evaluated within and between study groups.

Results

At baseline, patients with MS showed significantly increased diffusivity and decreased fractional anisotropy in the thalamus (P < 0.001 for mean diffusivity, axial diffusivity and radial diffusivity) and NAWM (all P < 0.016) compared with healthy individuals. No significant within‐group difference was found in diffusion tensor imaging measures over 24 months in either group. Healthy individuals showed a significantly greater rate of increased diffusivity parameters in the thalamus and NAWM compared with patients with MS, over 24 months (P < 0.05).

Conclusions

The lack of changes in diffusion tensor imaging metrics in patients with MS over 24 months possibly indicates a neuroprotective role of DMF. These findings provide additional evidence of the beneficial effect of DMF on MS‐related pathology.
Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study
Authors: Pelosi L. , Mulroy E. , Leadbetter R. , Kilfoyle D. , Chancellor A. M. , Mossman S. , Wing L. , Wu T. Y. , Roxburgh R. H.
Published: January 2018

Background and purpose

Sensory neuronopathy is a cardinal feature of cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS). Having observed that two patients with CANVAS had small median and ulnar nerves on ultrasound, we set out to examine this finding systematically in a cohort of patients with CANVAS, and compare them with both healthy controls and a cohort of patients with axonal neuropathy. We have previously reported preliminary findings in seven of these patients with CANVAS and seven healthy controls.

Methods

We compared the ultrasound cross‐sectional area of median, ulnar, sural and tibial nerves of 14 patients with CANVAS with 14 healthy controls and 14 age‐ and gender‐matched patients with acquired primarily axonal neuropathy. We also compared the individual nerve cross‐sectional areas of patients with CANVAS and neuropathy with the reference values of our laboratory control population.

Results

The nerve cross‐sectional area of patients with CANVAS was smaller than that of both the healthy controls and the neuropathy controls, with highly significant differences at most sites (P < 0.001). Conversely, the nerve cross‐sectional areas in the upper limb were larger in neuropathy controls than healthy controls (P < 0.05). On individual analysis, the ultrasound abnormality was sufficiently characteristic to be detected in all but one patient with CANVAS.

Discussion

Small nerves in CANVAS probably reflect nerve thinning from loss of axons due to ganglion cell loss. This is distinct from the ultrasound findings in axonal neuropathy, in which nerve size was either normal or enlarged. Our findings indicate a diagnostic role for ultrasound in CANVAS sensory neuronopathy and in differentiating neuronopathy from neuropathy.
Life histories and soil water content preferences of sympatric exotic and native terrestrial isopods
Authors: Tanaka Ryutaro , Karasawa Shigenori
Published: January 2018

Exotic species have negative effects on the ecosystems they enter, but often coexist with native species. Clarifying mechanisms behind the coexistence of native and exotic species is important for evaluating effects of such exotic species on native ecosystems. In Japan, at least seven terrestrial isopod species are considered exotic and some have been found with native species. The mechanisms of their coexistence have never been researched. This study examines the hypothesis that an exotic isopod species, Armadillidium vulgare, and native Mongoloniscus koreanus differ in their life histories and soil water content preferences, and that these differences facilitate their coexistence. Field observation revealed that populations of the two species were stably maintained despite large overlap in their life histories and breeding periods, although A. vulgare showed more variability in some aspects of life history than M. koreanus. Two types of choice experiments were carried out to identify their preferences for soil water content levels. The “alone” experiment, where one individual was used per experimental box, showed that the two species were different in preference for soil water content. However, the “group” experiment, where ten individuals of the two species (five of each species) were used per experimental box, suggested that A. vulgare changed its preference from when it was alone, showing preference similar to that of the M. koreanus individuals in the same box. Thus, we concluded that the two species can coexist at the study site, but that the hypothesized mechanisms for their coexistence were not proven in this study.
Mood disorders in familial epilepsy: A test of shared etiology
Authors: Insel Beverly J. , Ottman Ruth , Heiman Gary A.
Published: January 2018

Objective

Mood disorders are the most common comorbid conditions in epilepsy, but the cause remains unclear. One possible explanation is a shared genetic susceptibility to epilepsy and mood disorders. We tested this hypothesis by evaluating lifetime prevalence of mood disorders in relatives with and without epilepsy in families containing multiple individuals with epilepsy, and comparing the findings with rates from a general population sample.

Methods

The Composite International Diagnostic Interview was administered to 192 individuals from 60 families, including 110 participants with epilepsy of unknown cause (50 focal epilepsy [FE], 42 generalized epilepsy [GE], 6 FE and GE, 12 unclassifiable) and 82 relatives without epilepsy (RWOE). Odds ratios (ORs) for lifetime prevalence of mood disorders in participants with versus without epilepsy were computed through logistic regression, using generalized estimation equations to account for familial clustering. Standardized prevalence ratios (SPRs) were used to compare prevalence in family members with general population rates.

Results

Compared with RWOE, ORs for mood disorders were significantly increased in participants with FE (OR = 2.4, 95% confidence interval [CI] = 1.1‐5.2) but not in those with GE (OR = 1.0, 95% CI = 0.4‐2.2). In addition, prevalence of mood disorders was increased in individuals with epilepsy who had ≥1 relative with FE. Compared with general population rates, mood disorders were significantly increased in individuals with FE but not in those with GE. Rates were also increased in RWOE, but not significantly so (SPR = 1.4, P = .14).

Significance

These findings are consistent with the hypothesis of shared genetic susceptibility to epilepsy and mood disorders, but suggest (1) the effect may be restricted to FE, and (2) the shared genetic effect on risk of mood disorders and epilepsy may be restricted to individuals with epilepsy, that is, to those in whom the genetic risk for epilepsy is “penetrant.”
Inferring dominance interactions from automatically recorded temporal data
Authors: Evans Julian C. , Devost Isabelle , Jones Teri B. , Morand‐Ferron Julie
Published: January 2018

Understanding dominance hierarchies is an important aspect of many studies of animal groups. Collecting the necessary data requires a large amount of time and effort to detect only a small number of interactions. Here, we assess the viability of extracting interactions from a temporal data stream of arrival and departures to a feeder equipped with a radio‐frequency identifier antenna. We show that the interactions extracted from this type of data can create similar dominance hierarchies to those produced by analysing video data of interactions. Additionally, we assessed the amount of temporal data required to obtain a dominance hierarchy and discuss the advantages and disadvantages of utilising temporal data streams to generate dominance hierarchies of animal groups. The code to extract the dominance interactions and test the correlation between different dominance hierarchies is included in the Supporting Information.
Diversity from genes to ecosystems: A unifying framework to study variation across biological metrics and scales
Authors: Gaggiotti Oscar E. , Chao Anne , Peres‐Neto Pedro , Chiu Chun‐Huo , Edwards Christine , Fortin Marie‐Josée , Jost Lou , Richards Christopher M. , Selkoe Kimberly A.
Published: January 2018

Biological diversity is a key concept in the life sciences and plays a fundamental role in many ecological and evolutionary processes. Although biodiversity is inherently a hierarchical concept covering different levels of organization (genes, population, species, ecological communities and ecosystems), a diversity index that behaves consistently across these different levels has so far been lacking, hindering the development of truly integrative biodiversity studies. To fill this important knowledge gap, we present a unifying framework for the measurement of biodiversity across hierarchical levels of organization. Our weighted, information‐based decomposition framework is based on a Hill number of order q = 1, which weights all elements in proportion to their frequency and leads to diversity measures based on Shannon's entropy. We investigated the numerical behaviour of our approach with simulations and showed that it can accurately describe complex spatial hierarchical structures. To demonstrate the intuitive and straightforward interpretation of our diversity measures in terms of effective number of components (alleles, species, etc.), we applied the framework to a real data set on coral reef biodiversity. We expect our framework will have multiple applications covering the fields of conservation biology, community genetics and eco‐evolutionary dynamics.
Gay Fathers on the Margins: Race, Class, Marital Status, and Pathway to Parenthood
Authors: Carroll Megan
Published: January 2018

Objective

To investigate stratification within gay fatherhood communities.

Background

As laws and attitudes have become friendlier to queer families in recent decades, gay fathers have experienced increased visibility in and through both media and scholarship. However, this visibility has been distributed unevenly along normative patterns of marital status, race, class, and kinship.

Method

Participant observation of gay fathers groups was conducted in California, Texas, and Utah over a period of 61 months. Using theoretical sampling of group members, 56 gay fathers also participated in semistructured interviews. Themes were identified and refined through a 3‐stage iterative coding process, consistent with a grounded theory approach.

Results

Findings suggest that single gay fathers, gay fathers of color, and gay fathers who had children in heterosexual contexts occupy marginalized statuses within the gay fatherhood community. Gay fathers develop distinct mechanisms of resilience to respond to the challenges associated with their marginalization.

Conclusion

The experiences of gay fathers on the margins highlight the negative consequences of gay fatherhood discourses that reproduce family normativity. The resources available through gay parenting groups simultaneously played a role in gay fathers' well‐being, resilience, and marginalization.

Implications

Efforts to expand opportunities for gay families should consider coalitions with other marginalized family forms. Gay parents who had children in heterosexual unions should be specifically targeted through gay parenting outreach.
Science to support the management of riverine flows
Authors: Stoffels Rick J. , Bond Nick R. , Nicol Sam
Published: January 2018

The last two decades has seen introduction or reform of water legislation in many river basins of the world, and river managers are under increasing pressure to make effective and efficient flow management decisions. To support those decisions, the roles that freshwater scientists must fulfil are rapidly evolving, and now is a good time to ask: What roles must scientists fulfil to best support those decisions? What are the major barriers to seeing those roles fulfilled? How can those barriers be removed?

We offer potential answers to these questions. To ensure our arguments are grounded within real policy and decision problems, they are framed within the context of Australia's Murray‐Darling Basin Plan—legislation to guide the management of environmental flows—and its associated Watering Strategy. These problems are not unique, so the challenges and solutions we identify have broader applicability to flow management. Indeed, many of the policy and decision problems we present are common to all ecosystem types, so our arguments will likely be applicable beyond freshwater ecosystems.

We argue that scientists must fulfil four roles to support flows management: (1) Monitoring and evaluation of ecosystems to support scientifically defensible reporting of outcomes, and to reduce uncertainty through adaptive management. (2) Modelling to support spatial and temporal projections of ecosystem change under different flow scenarios, resulting in more effective management decisions; improved causal inference about flow effects; identification of threats to the efficacy of flow management; and scaling flow‐response dynamics to broader spatial extents. (3) Fundamental research, resulting in improved outcomes through the identification of non‐flow management interventions that work in synergy with environmental flows and improved understanding of the ecological limitations of current policy. (4) Decision science, leading to more defensible environmental flow decisions and more efficient use of resources.

We identify key barriers specific to each role and offer possible remedies. We argue that a major impediment to seeing these roles fulfilled is the ad hoc nature of much of the current research effort. Investment in research must (1) be developed at the basin scale, to ensure science supports decision problems that span multiple scales; (2) be developed as a collaboration between all stakeholders to ensure that science investments remain aligned with decision problems; (3) recognise the need to build and maintain technical capacity within the four roles.
Understorey productivity in temperate grassy woodland responds to soil water availability but not to elevated [CO2]
Authors: Collins Luke , Bradstock Ross A. , Resco de Dios Victor , Duursma Remko A. , Velasco Sabrina , Boer Matthias M.
Published: January 2018

Rising atmospheric [CO2] and associated climate change are expected to modify primary productivity across a range of ecosystems globally. Increasing aridity is predicted to reduce grassland productivity, although rising [CO2] and associated increases in plant water use efficiency may partially offset the effect of drying on growth. Difficulties arise in predicting the direction and magnitude of future changes in ecosystem productivity, due to limited field experimentation investigating climate and CO2 interactions. We use repeat near‐surface digital photography to quantify the effects of water availability and experimentally manipulated elevated [CO2] (eCO2) on understorey live foliage cover and biomass over three growing seasons in a temperate grassy woodland in south‐eastern Australia. We hypothesised that (i) understorey herbaceous productivity is dependent upon soil water availability, and (ii) that eCO2 will increase productivity, with greatest stimulation occurring under conditions of low water availability. Soil volumetric water content (VWC) determined foliage cover and growth rates over the length of the growing season (August to March), with low VWC (<0.1 m3 m−3) reducing productivity. However, eCO2 did not increase herbaceous cover and biomass over the duration of the experiment, or mitigate the effects of low water availability on understorey growth rates and cover. Our findings suggest that projected increases in aridity in temperate woodlands are likely to lead to reduced understorey productivity, with little scope for eCO2 to offset these changes.
Historical and event‐based bioclimatic suitability predicts regional forest vulnerability to compound effects of severe drought and bark beetle infestation
Authors: Lloret Francisco , Kitzberger Thomas
Published: January 2018

Vulnerability to climate change, and particularly to climate extreme events, is expected to vary across species ranges. Thus, we need tools to standardize the variability in regional climatic legacy and extreme climate across populations and species. Extreme climate events (e.g., droughts) can erode populations close to the limits of species' climatic tolerance. Populations in climatic‐core locations may also become vulnerable because they have developed a greater demand for resources (i.e., water) that cannot be enough satisfied during the periods of scarcity. These mechanisms can become exacerbated in tree populations when combined with antagonistic biotic interactions, such as insect infestation. We used climatic suitability indices derived from Species Distribution Models (SDMs) to standardize the climatic conditions experienced acrossPinus edulispopulations in southwestern North America, during a historical period (1972–2000) and during an extreme event (2001–2007), when the compound effect of hot drought and bark beetle infestation caused widespread die‐off and mortality.Pinus edulisclimatic suitability diminished dramatically during the die‐off period, with remarkable variation between years.P. edulisdie‐off occurred mainly not just in sites that experienced lower climatic suitability during the drought but also where climatic suitability was higher during the historical period. The combined effect of historically high climatic suitability and a marked decrease in the climatic suitability during the drought best explained the range‐wide mortality. Lagged effects of climatic suitability loss in previous years and co‐occurrence ofJuniperus monospermaalso explainedP. edulisdie‐off in particular years. Overall, the study shows that past climatic legacy, likely determining acclimation, together with competitive interactions plays a major role in responses to extreme drought. It also provides a new approach to standardize the magnitude of climatic variability across populations using SDMs, improving our capacity to predict population's or species' vulnerability to climatic change.
Surfactant‐Enhanced Electroosmotic Flushing in a Trichlorobenzene Contaminated Clayey Soil
Authors: Qiao Wenjing , Ye Shujun , Wu Jichun , Zhang Ming
Published: January 2018

Remediation of the sites contaminated with organic contaminants, such as chlorobenzenes, remains a challenging issue. Electroosmotic flushing can be a promising approach which is based on mechanism of electrokinetic remediation for removal of organic contaminants from fluids in low‐permeability soil. To select an optimum surfactant that can effectively enhance electroosmotic flushing, three common surfactants, Triton X‐100 (EK2), Tween 80 (EK3), and a mixture of sodium dodecyl sulfate and Triton X‐100 (EK4) buffered with Na2HPO4/NaH2PO4 solution, were tested. The efficiency of each kind of surfactant was evaluated using a three‐dimensional box filled with a clayey soil spiked with 1,2,4‐trichlorobenzene, and compared with a test (EK1) without surfactant. The results demonstrated that the buffer solutions efficiently neutralized H+ and OH− produced by electrolysis. EK3 with Tween 80 added in the flushing solution reached the highest electroosmotic permeability of 10−4 cm2/v/s and achieved a notably high cumulative electroosmotic flow (EOF) of 5067 mL within 6 d, which was 6.3, 3.4, and 4.2 times higher than that in EK1, EK2, and EK4, respectively. There were 420 mL more cumulative EOF obtained after 50 h of electrical application in EK4 than in EK2. The introduction of nonreactive ions can increase the current, thereby benefiting the EOF. Both the higher pH caused by the buffer and the application of nonionic surfactants can make the zeta potential more negative, thereby increasing the EOF. Tween 80 can be recommended as the best flushing solution for removing organic contaminants from sites when electrokinetic remediation is applied.
Wisteria floribunda agglutinin‐positive Mac‐2 binding protein predicts the development of hepatocellular carcinoma in patients with non‐alcoholic fatty liver disease
Authors: Kawanaka Miwa , Tomiyama Yasuyuki , Hyogo Hideyuki , Koda Masahiko , Shima Toshihide , Tobita Hiroshi , Hiramatsu Akira , Nishino Ken , Okamoto Toshiaki , Sato Shuichi , Hara Yuichi , Nishina Sohji , Kawamoto Hirofumi , Chayama Kazuaki , Okanoue Takeshi , Hino Keisuke
Published: January 2018

Aim

As it is not practical to perform regular screening for hepatocellular carcinoma (HCC) in all patients with non‐alcoholic fatty liver disease (NAFLD), there is a need to identify NAFLD patients who are at high risk for HCC. Wisteria floribunda agglutinin‐positive Mac‐2 binding protein (WFA+‐M2BP) has been shown to be a surrogate marker for predicting HCC as well as a liver fibrosis marker in patients with chronic hepatitis B and C. The aim of this study was to investigate whether WFA+‐M2BP predicts HCC development in NAFLD patients.

Methods

Serum WFA+‐M2BP was retrospectively measured in 331 patients with histologically proven NAFLD, 51 of whom developed HCC. The association of WFA+‐M2BP and HCC development in NAFLD patients was investigated.

Results

The WFA+‐M2BP values were significantly greater in NAFLD patients with HCC than in those without HCC among patients with liver fibrosis ≥stage 3. Multivariate analysis identified WFA+‐M2BP as one of the predictive factors for HCC development (odds ratio, 1.57; 95% confidence interval, 1.083–2.265; P = 0.017). The optimal cut‐off index of WFA+‐M2BP for predicting HCC was 1.255 with specificity of 78.4% and sensitivity of 70.4%. The area under the receiver operating characteristic curve value for the prediction of HCC development was 0.806. The cumulative incidence rate of HCC was significantly greater in patients with WFA+‐M2BP ≥ 1.255 (n = 61) than in those with WFA+‐M2BP < 1.255 (n = 137) among patients who were followed up for more than 2 years after the diagnosis of NAFLD.

Conclusions

Wisteria floribunda agglutinin‐positive Mac‐2 binding protein predicts HCC development and is a useful surrogate marker for identifying NAFLD patients who are at a high risk for HCC.
Safety and efficacy of sofosbuvir and ribavirin for genotype 2 hepatitis C Japanese patients with renal dysfunction
Authors: Sho Takuya , Suda Goki , Nagasaka Atsushi , Yamamoto Yoshiya , Furuya Ken , Kumagai Kenichi , Uebayashi Minoru , Terashita Katsumi , Kobayashi Tomoe , Tsunematsu Izumi , Onodera Manabu , Meguro Takashi , Kimura Megumi , Ito Jun , Umemura Machiko , Izumi Takaaki , Kawagishi Naoki , Ohara Masatsugu , Ono Yuji , Nakai Masato , Natsuizaka Mitsuteru , Morikawa Kenichi , Ogawa Koji , Sakamoto Naoya ,   for the NORTE Study Group
Published: January 2018

Aim

The safety and efficacy of sofosbuvir (SOF) and ribavirin (RBV) have not been well clarified in patients with renal dysfunction because clinical trials have not included such patients. We evaluated the safety and efficacy of SOF and RBV for genotype 2 hepatitis C virus (HCV)‐infected patients with renal dysfunction.

Methods

The study included genotype 2 HCV‐infected patients who received SOF and RBV between July 2014 and May 2017. The sustained virologic response (SVR) after the treatment and safety during the therapy were evaluated according to renal function.

Results

A total of 231 patients were included in this study. The median age was 62 years old, and 45.9% (106/231) were men. Of the 231 patients, 191 (82.8%) and 40 (17.2%) were classified as having chronic kidney disease (CKD) stages G1/2 and G3, respectively. The overall SVR rate was 97% (224/231). The SVR rates in patients with CKD stages G1, 2, G3a, and G3b were 98.1%, 98.6%, 87.9%, and 100%, respectively, and this therapy was tolerated. Multivariate analysis indicated that renal dysfunction was significantly associated with a non‐SVR (odds ratio, 6.963; 95% confidence interval, 1.494–32.41; P = 0.013). The patients with renal dysfunction were older, had advanced liver fibrosis, lower baseline platelet and hemoglobin levels, and a higher rate of RBV dose reduction.

Conclusions

Sofosbuvir and RBV therapy is highly effective and safe for genotype 2 HCV‐infected Japanese patients. However, attention should be paid to baseline renal function when SOF‐ and RBV‐containing regimens are used for patients with renal dysfunction.
A promising medium‐term follow‐up of pediatric sclerosing cholangitis: Mild phenotype or early diagnosis?
Authors: Ferrari Federica , Ranucci Giusy , Aloi Marina , Della Volpe Luca , Viola Franca , Miele Erasmo , Cucchiara Salvatore , Iorio Raffaele
Published: January 2018

Aim

Sclerosing cholangitis (SC) is a chronic cholestatic liver disease that is being increasingly diagnosed in childhood. The long‐term course and prognosis of pediatric SC are poorly described.

Methods

We reviewed data of pediatric SC patients, followed in two referral centers, during a period of up to 20 years. We aimed to evaluate long‐term outcomes according to SC phenotype.

Results

Among 45 patients (median age, 10.4 years; male patients, 73.4%) 29 (64.4%) were asymptomatic at presentation. Twenty patients (44%) had a concomitant inflammatory bowel disease (SC/IBD). Autoimmune features were found in 20 patients (44%). Liver biopsy showed severe fibrosis or cirrhosis in 32% of cases. Patients with SC alone had a higher rate of interface hepatitis at liver biopsy than SC/IBD patients. All children received ursodeoxycholic acid at diagnosis, and 17 received steroids and/or azathioprine. After a mean follow‐up of 8.7 ± 5.6 years, all patients were alive and seven developed at least one liver‐related complication. At the end of follow‐up, 10 patients stopped immunosuppressants and two had no therapy. Only two patients underwent liver transplantation. Complication‐free survival did not differ between SC/IBD and SC patients, but survival was longer in patients without autoimmune features.

Conclusions

In our early diagnosed cohort, the 9‐year survival with native liver was better than that reported in other studies. Approximately 15% of patients developed liver‐related disease complications, less than previously reported. The long‐term course of SC was negatively influenced by the presence of autoimmune features, but not by concomitant IBD.
Assessing Convicted Traffickers: Negotiating Migration, Employment and Opportunity through Restricted Networks
Authors: BROAD ROSE
Published: January 2018

This article presents a rare insight into convicted ‘traffickers’ and draws on research undertaken using risk assessment data from criminal justice sources relating to those convicted for trafficking offences in the UK between 2004 and 2008. Analysis of these data identified conflicts between the dominant understanding of trafficking and the group of people ultimately convicted for this activity. It is argued that there is a need to contextualise the response to this group with knowledge of their backgrounds often including the structural barriers experienced through migration. Developing an awareness of these offending pathways is important in understanding the nexus between the movement and exploitation of victims and the structures that control access to employment and income as well as for developing effective interventions for those involved in these offences.