bluuebunny/crossref_metadata_2025 huggingface dataset:
Severity strata for five patient-reported outcomes in adults with atopic dermatitis
Authors: Vakharia P.P. , Chopra R. , Sacotte R. , Patel N. , Immaneni S. , White T. , Kantor R. , Hsu D.Y. , Simpson E.L. , Silverberg J.I.
Published: April 2018

Atopic dermatitis (AD, also known simply as eczema) is a skin disease that can cause itching (pruritus), sleep disturbance and impaired quality of life (QoL), often affecting everyday activities such as school and work, resulting in impaired mental health. During studies into eczema or when treating patients, doctors use a variety of systems that record how severe the person's eczema is. Some of these look at the physical symptoms, such as how severe the skin lesions (areas of affected skin) are. However, as mentioned above, many of the symptoms of the disease can't be measured by looking at the skin, and for these, different measurements of ‘Patient Reported Outcomes’ (PRO) are used, in which the patient answers questions about, for example, their quality of life, mood or itch severity. These measures are not always specific to eczema, and can be used across a range of skin disorders. Each PRO has a different numbers of questions, response options, and scoring systems, which can make it difficult to interpret the results across different PROs. Severity strata have been developed for some PROs, which attribute levels of severity to the results of the scores, so for example, in a PRO called POEM, a score of 0 to 7 is mild, 8 to 16 is moderate and 17 to 28 is severe. This study sought to confirm whether previously reported strata for the PRO's called POEM and DLQI are indeed accurate for adults with AD. They also sought to develop severity strata for PRO's that don't already have them: NRS-itch, mean ItchyQOL and 5-D itch scale. The authors confirm that existing strata for POEM and DLQI perform well in adult AD and suggested amendments and new strata for certain other PRO's.
Population-based Clinical Practice Research Datalink study using algorithm modelling to identify the true burden of hidradenitis suppurativa
Authors: Ingram J.R. , Jenkins-Jones S. , Knipe D.W. , Morgan C.L.I. , Cannings-John R. , Piguet V.
Published: April 2018

Hidradenitis suppurativa (HS) is a long-term skin disease affecting young adults, causing multiple boils in skin crease sites such as the armpits and groins. The boils are painful, may produce pus and leave disfiguring scars. How common HS is remains controversial, with recent reports using USA medical insurance data suggesting about 0.1% of the population is affected, which is lower than European studies using self-reported questionnaires (completed by the patient). This may be because insurance databases miss undiagnosed cases. Our study team based in the UK aimed to use UK electronic data recorded by General Practitioners (GPs) to identify known and previously undiagnosed cases of HS. We identified undiagnosed cases by looking for patients who had seen their GP for at least 5 skin boils and validated their diagnosis by sending some of the GPs a questionnaire to double-check. Out of 4.3 million patients in the GP database, we found 23,000 diagnosed HS patients and 10,000 undiagnosed patients, showing that 0.77% of the UK population has HS. Including probable cases, who had 1-4 skin boil consultations, the figure rises to 1.19%. Comparing people with HS to similar people without HS, there are higher rates of smoking and obesity (both 3 times more common), as well as type 2 diabetes, Crohn's disease, raised fat levels in the blood, acne, high blood pressure and depression. However a link was not found between HS and ulcerative colitis or polycystic ovary syndrome. In conclusion, we found that HS is relatively common, nearly 10 times more common than the estimates using USA insurance data. People with HS have higher rates of risk factors for heart disease and stroke and so checking for these conditions is important.
The association between atopic dermatitis and hand eczema: a systematic review and meta-analysis
Authors: Ruff S.M.D. , Engebretsen K.A. , Zachariae C. , Johansen J.D. , Silverberg J.I. , Egeberg A. , Thyssen J.P.
Published: April 2018

Atopic dermatitis (AD), a common type of eczema, is a skin disease of early childhood. It causes intense itching and dry skin. Most children and adults experience eczema of the flexures (bends of the knees and elbows), but some adult patients also have eczema on the face, hands and feet. Traditional atopic hand eczema (HE) is located on the dorsal aspects (backs) of the hands, probably because the skin is thinner here than on the palms. However, AD also increases the risk of HE that develops due to irritants such as soap and water, so-called ‘irritant contact dermatitis’. This subtype of HE often begins on the skin between or on the sides of the fingers but can be located anywhere on the hands including the palms. Importantly, HE can prevent people being able to work and can reduce their enjoyment and quality of life. The present study looked into the link between AD and HE by reviewing published literature and scientific studies. In each study we searched for data on the association between AD and HE. We combined the results from 26 studies, which showed that patients with present or past AD had a 3 to 4-fold increased risk of HE when looking at one-year- and lifetime prevalence of HE (meaning people who developed HE at any point over the course of a given year, or ever in their lives so far, even if they did not have it currently). A slightly weaker association was found when studying the link with current HE. Similar positive associations were found when looking at HE due to exposure to irritants from different occupations, and HE reported in the general population. In conclusion, our analysis showed that patients with AD had a strongly increased likelihood of HE. Clinicians should continue to guide patients with AD away from occupations with high risk of HE where possible. Furthermore, future studies should focus on the importance of determining the association between AD and different types of HE.
Characterization of CD45RO+ memory T lymphocytes in keloid disease
Authors: Chen Z. , Zhou L. , Won T. , Gao Z. , Wu X. , Lu L.
Published: April 2018

Keloid is a type of scar which seems like an overgrown scar, and can even be larger or more visible than the original wound. They are most common in darker skin types. Although the exact causes of keloid remain unknown, we know that the immune system is involved. Memory T lymphocytes are cells that can provide a rapid and highly effective immune response against pathogens (harmful bacteria or viruses) and can recognize a wide variety of antigens (toxins or foreign substances in the body). In this study, the authors sought to investigate the abnormalities of a specific memory T cell called CD3+CD45RO+ in keloid scars by analyzing blood and tissue samples. The authors, from Shanghai, China, found that most of T lymphocytes in keloid scars are CD3+CD45RO+ memory T cells, and they describe the ways in which this type differs from another type of memory T cells called FOXP3-CD8-mT. The authors also identified a profound decrease in the number of cells, called CD4+CD25highFOXP3+ regulatory T cells, in patients with multiple keloid scars, and a significant increase of CD8+CD103+ memory T cells in keloid scars. The authors concluded that there exist distinct abnormalities in CD45RO+ memory T-cell subsets in keloid scars and it may imply that dysregulation of T cell responses may play a role in the development of keloid scarring. Further research is required.
基于人群的临床实践研究数据链研究使用算法模型来鉴定化脓性汗腺炎的真正负担
Authors: Ingram J.R. , Jenkins-Jones S. , Knipe D.W. , Morgan C.L.I. , Cannings-John R. , Piguet V.
Published: April 2018

化脓性汗腺炎是一种影响年轻人的长期皮肤病,会导致皮肤褶皱部位(例如腋窝和腹股沟)多处生疮。疮非常疼痛,且可能会生脓并留下难看的疤痕。HS的普遍性如何仍存有争议,近期一些使用了美国医疗保险数据的报告表明,约有0.1%的人口受到这种疾病的影响,这个数据低于使用自我报告调查问卷(由患者填写)的欧洲研究所得出的数据。这可能是因为保险数据库漏掉了未确诊的病例。我们的研究团队位于英国,旨在使用由英国的全科医师(GP)记录的电子数据来鉴定已知和之前未确诊的HS病例。在鉴别未确诊病例时,我们查找了因至少5处皮肤疮而向医生问诊的患者,并向一些医生发送再次确认的问卷而验证诊断。在GP数据库中的430万名患者中,我们找出了23,000名确诊的HS患者和10,000名未确诊患者,这表示有0.77%的英国人口患有HS。如果包括疑似病例(患者拥有1~4次皮肤疮会诊),这个数字将升至1.19%。将HS患者与未患有HS的类似人群相比较,可以发现,前者的吸烟率和肥胖率(普遍率是后者的三倍),以及2型糖尿病、克罗恩氏病、血脂水平升高、痤疮、高血压和抑郁症的几率都较高。但未发现HS与溃疡性结肠炎或多囊卵巢综合症之间存在关联。结论是,我们发现HS相对较为普遍,比估计数量高出近十倍(使用美国保险数据)。HS患者患上心脏病和中风的风险因素比率较高,因此,检查这些状况非常重要。
Advance organizers in videos for software training of Chinese students
Authors: van der Meij Hans
Published: April 2018

The effectiveness of demonstration‐based training (DBT) videos for software training has been investigated for a Western audience. These studies have generally found that the demonstration videos significantly enhanced self‐efficacy and task performance, but also that there was a gap between task practice and learning with the latter lagging behind. The present study investigated the effectiveness of DBT‐videos for software training of Chinese students. The control condition presented demonstrations only. In the experimental condition demonstrations were preceded with advance organizers that aimed to enhance learning. The 61 participants (mean age 11.8 years) came from a middle school in China. Data analyses revealed that self‐efficacy significantly improved in both conditions. Task performance success also increased significantly over time. The familiar gap between task practice and learning was found between task practice and outcomes on an immediate post‐test. However, on the delayed post‐test this difference had disappeared. An effect of the advance organizer was found for accuracy of the self‐efficacy appraisals, and for gain scores from pretest to delayed post‐test. It is concluded that DBT‐based demonstration videos are moderately effective for software training of Chinese students, and that it can be beneficial to precede these with advance organizers.
Investigating the other‐race effect in working memory
Authors: Stelter Marleen , Degner Juliane
Published: April 2018

People have difficulties in remembering other‐race faces; this so‐called other‐race effect (ORE) has been frequently observed in long‐term recognition memory (LTM). Several theories argue that the ORE in LTM is caused by differences in earlier processing stages, such as encoding of ingroup and outgroup faces. We test this hypothesis by exploring whether the ORE can already be observed in visual working memory (VWM)—an intermediate system located between encoding processes and LTM storage. In four independent experiments, we observed decreased performance for outgroup faces compared to ingroup faces using three different VWM tasks: an adaptive N‐back task, a self‐ordered pointing task, and a change detection task. Also, we found that the number of items stored in VWM is smaller for outgroup faces than for ingroup faces. Further, we explored whether performance differences in the change detection task are related to the classic ORE in recognition memory. Our results provide further evidence that the ORE originates during earlier stages of cognitive processing. We discuss that (how) future ORE research may benefit from considering theories and evidence from the VWM literature.
Fertility preservation in testicular cancer – predictors of spermatogenesis
Authors: Moody Jemma A. , Ahmed Kamran , Horsfield Catherine , Pedersen Malene R.V. , Yap Tet , Shabbir Majid
Published: April 2018

Objectives

To determine the frequency of spermatogenesis in patients with testicular cancer and to assess for any predictors of spermatogenesis.

Patients and Methods

We retrospectively reviewed 103 testicular germ cell tumours (TGCTs) in men who underwent radical orchidectomy conducted at Guy's Hospital, London, between 2011 and 2015. Primary outcome measures included: the presence and characteristics of spermatogenesis (widespread/focal/proximity to tumour). Secondary outcome measures included: the presence of testicular microlithiasis, tumour characteristics (size, stage, and type), and tumour markers. Secondary outcome measures as potential predictors of spermatogenesis were assessed using univariate and multivariate logistic regression analyses.

Results

Spermatogenesis was present in 70% (72/103) of the patients; it was widespread in 63% (45/72) and focal in 38% (27/72). Neither tumour type, stage, presence of microcalcification nor tumour markers predicted spermatogenesis. Men with a percentage testis tumour occupation (PTTO) of >50% of their testis were 82% (95% confidence interval 73.2–98.4) less likely to have spermatogenesis than a PTTO of <50%.

Conclusions

Spermatogenesis is present in most testes affected by TGCTs; it is widespread in two‐thirds of patients, and located away from the tumour in 94%. These findings can help predict and guide successful surgical sperm retrieval in testes with TGCTs. The finding of focal spermatogenesis in a third of patients would support a microsurgical approach to sperm retrieval at the time of orchidectomy to maximise success.
A unique telomere DNA expansion phenotype in human retinal rod photoreceptors associated with aging and disease
Authors: Bell W. Robert , Meeker Alan K. , Rizzo Anthony , Rajpara Sumit , Rosenthal Ian M. , Flores Bellver Miguel , Aparicio Domingo Silvia , Zhong Xiufeng , Barber John R. , Joshu Corinne E. , Canto‐Soler M. Valeria , Eberhart Charles G. , Heaphy Christopher M.
Published: April 2018

We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non‐neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non‐telomerase‐mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra‐bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types. Additionally, focus‐positive rod cells are dispersed homogeneously throughout the posterior retinal photoreceptor cell layer and appear to be human‐specific. We examined 108 normal human retinas obtained at autopsy from a wide range of ages. These large, ultra‐bright telomere DNA foci were not observed in infants before 6 months of age; however, the prevalence of focus‐positive rod cells dramatically increased throughout life. To investigate associations between this phenotype and retinal pathology, we assessed adult glaucoma (N = 29) and diabetic retinopathy (N = 38) cases. Focus‐positive rod cells were prominent in these diseases. When compared to the normal group, after adjusting for age, logistic regression modeling revealed significantly increased odds of falling in the high category of focus‐positive rod cells for glaucoma and diabetic retinopathy. In summary, we have identified a dramatic telomere alteration associated with aging and diseases affecting the retina.
PDE5 inhibitors – pharmacology and clinical applications 20 years after sildenafil discovery
Authors: Andersson K‐E
Published: April 2018

The discovery of the nitric oxide/cGMP pathway was the basis for our understanding of many normal physiological functions and the pathophysiology of several diseases. Since the discovery and introduction of sildenafil, inhibitors of PDE5 have been the first‐line therapy for erectile dysfunction (ED). The success of sildenafil in the treatment of ED stimulated research in the field of PDE5 inhibition and led to many new applications, such as treatment of lower urinary symptoms, and pulmonary arterial hypertension, which are now approved indications. However, PDE5 inhibitors have also been used in several other disorders not discussed in this review, and the fields of clinical use are increasing. In the present review, the pharmacological basis of the NO/cGMP pathway and the rationale and clinical use of PDE5 inhibitors in different diseases are discussed.
Structural controls on non fabric‐selective dolomitization within rift‐related basin‐bounding normal fault systems: Insights from the Hammam Faraun Fault, Gulf of Suez, Egypt
Authors: Hirani Jesal , Bastesen Eivind , Boyce Adrian , Corlett Hilary , Eker Anja , Gawthorpe Rob , Hollis Cathy , Korneva Irina , Rotevatn Atle
Published: April 2018

Fault‐controlled dolostone bodies have been described as potential hydrocarbon‐bearing reservoirs. Numerous case studies have described the shape and size of these often non fabric selective dolostone bodies within the vicinity of crustal‐scale lineaments, usually from Palaeozoic or Mesozoic carbonate platforms, which have undergone one or more phases of burial and exhumation. There has been little attention paid, however, to fault‐strike variability in dolostone distribution or the preferential localization of these bodies on particular faults. This study focuses on dolostone bodies adjacent to the Hammam Faraun Fault (HFF), Gulf of Suez. This crustal‐scale normal fault was activated in the Late Oligocene, coincident with the onset of extension within the Suez Rift. Dolomitization in the prerift Eocene Thebes Formation occurred in the immediate footwall of the HFF forming two massive, non facies selective dolostone bodies, ca. 500 m wide. Facies‐controlled tongues of dolostone on the margins of the massive dolostone bodies extend for up to 100 m. The geochemical signature of the dolostone bodies is consistent with replacement by Miocene seawater, contemporaneous with the rift climax and localization of strain along the HFF. A conceptual model of dolomitization from seawater that circulated within the HFF during the rift climax is presented. Seawater was either directly drawn down the HFF or circulated from the hanging wall basin via a permeable aquifer towards the HFF. The lateral extent of the massive dolostone bodies was controlled by pre‐existing HFF‐parallel fracture corridors on the outer margins of the damage zone of the fault. The behaviour of these fracture corridors alternated between acting as barriers to fluid flow before rupture and acting as flow conduits during or after rupture. Multiple phases of dolomitization and recrystallization during the ca. 10 Ma period in which dolomitization occurred led to mottled petrographical textures and wide‐ranging isotopic signatures. The localization of dolomitization on the HFF is interpreted to reflect its proximity to a rift accommodation zone which facilitated vertical fluid flow due to perturbed and enhanced stresses during fault interaction. It is possible that the presence of jogs along the strike of the fault further focused fluid flux. As such, it is suggested that the massive dolostones described in this study provide a window into the earliest stages of formation of fault‐controlled hydrothermal dolostone bodies, which could have occurred in other areas and subsequently been overprinted by more complex diagenetic and structural fabrics.
Morphometric analysis of sediment conduits on a bathymetric high: Implications for palaeoenvironment and hydrocarbon prospectivity
Authors: Harishidayat Dicky , Omosanya Kamaldeen Olakunle , Johansen Ståle Emil , Eruteya Ovie Emmanuel , Niyazi Yakufu
Published: April 2018

Canyons and other sediment conduits are important components of the deep‐water environment and are the main pathways for sediment transport from the shelf to the basin floor. Using 3‐D and 2‐D seismic reflection data, seismic facies and statistical morphometric analyses, this study showed the architectural evolution of five canyons, two slide scars and four gullies on the southern part of the Loppa High, Barents Sea. Morphometric parameters such as thalweg depth (lowest point on a conduit's base), wall depth (middle point), height, width and base width, sinuosity, thalweg gradient, aspect ratio (width/height) and cross‐sectional area of the conduits were measured at intervals of 250‐m perpendicular to the conduits’ pathways. Our results show that the canyons and slide scars in the study area widen down slope, whereas the gullies are narrow and short with uniform widths. The sediment conduits in the study area evolved in three stages. The first stage is correlated with a time when erosion and bypass were dominant in the conduits, and sediment transferred to the basin in the south. The second stage occurred when basin subsidence was prevalent, and a widespread fine‐grained sequence was deposited as a drape blanketing the canyons and other conduits. A final stage occurred when uplift and glacial erosion configured the entire southern Loppa High into an area of denudation. Our work demonstrates that the morphometric parameters of the canyons, slide scars and gullies generally have increasing linear trends with down‐slope distance, irrespective of their geometries. The morphometric analysis of the sediment conduits in the study area has wider applications for understanding depositional processes, reservoir distribution and petroleum prospectivity in frontier basins.
Mental health and well‐being in parents of excessively crying infants: Prospective evaluation of a support package
Authors: Powell C. , Bamber D. , Long J. , Garratt R. , Brown J. , Rudge S. , Morris T. , Bhupendra Jaicim N. , Plachcinski R. , Dyson S. , Boyle E. M. , St James‐Roberts I.
Published: April 2018

Background

During the first 4 months of age, approximately 20% of infants cry a lot without an apparent reason. Most research has targeted the crying, but the impact of the crying on parents, and subsequent outcomes, need to receive equal attention. This study reports the findings from a prospective evaluation of a package of materials designed to support the well‐being and mental health of parents who judge their infant to be crying excessively. The resulting “Surviving Crying” package comprised a website, printed materials, and programme of Cognitive Behaviour Therapy‐based support sessions delivered to parents by a qualified practitioner. It was designed to be suitable for United Kingdom (UK) National Health Service (NHS) use.

Methods

Parents were referred to the study by 12 NHS Health Visitor/Community Public Health Nurse teams in one UK East Midlands NHS Trust. Fifty‐two of 57 parents of excessively crying babies received the support package and completed the Edinburgh Postnatal Depression Scale and Generalized Anxiety Disorder‐7 anxiety questionnaire, as well as other measures, before receiving the support package and afterwards.

Results

Significant reductions in depression and anxiety were found, with numbers of parents meeting clinical criteria for depression or anxiety halving between baseline and outcome. These improvements were not explained by reductions in infant crying. Reductions also occurred in the number of parents reporting the crying to be a large or severe problem (from 28 to 3 parents) or feeling very or extremely frustrated by the crying (from 31 to 1 parent). Other findings included increases in parents' confidence, knowledge of infant crying, and improvements in parents' sleep.

Conclusions

The findings suggest that the Surviving Crying package may be effective in supporting the well‐being and mental health of parents of excessively crying babies. Further, large‐scale controlled trials of the package in NHS settings are warranted.
Reciprocal Relations Between Parental Problem Drinking and Children's Sleep: The Role of Socioeconomic Adversity
Authors: Kelly Ryan J. , El‐Sheikh Mona
Published: April 2018

Reciprocal relations between parental problem drinking (PPD) and children's sleep were examined longitudinally, and socioeconomic status was considered as a moderating variable. At Wave 1, 280 children (Mage = 10.33) and their parent(s) participated, and 275 families returned 1 year later. At both waves, parent(s) reported on PD and children wore actigraphs that measured established sleep parameters. After controlling for autoregressive effects, fathers’ PD predicted reduced sleep duration and efficiency in children over time. Supportive of reciprocal effects, more frequent long wake episodes predicted greater PPD. Fathers’ PD was a more robust risk factor for lower than higher income children. Results build on a growing literature that has considered children's sleep in a family context.
Sexual dimorphism in postnatal gonadotrophin levels in infancy reflects diverse maturation of the ovarian and testicular hormone synthesis
Authors: Kuiri‐Hänninen Tanja , Dunkel Leo , Sankilampi Ulla
Published: April 2018

Background

The postnatal gonadotrophin surge is sexually dimorphic: FSH levels predominate in girls and LH levels in boys. However, in preterm (PT) girls, both gonadotrophin levels are higher than in PT boys.

Objective

To evaluate how gonadal maturation contributes to the sex differences in FSH and LH.

Design

Monthly follow‐up of 58 full‐term (FT, 29 boys) and 67 PT (33 boys) infants from 1 week (D7) to 6 months of age (M1‐M6). Analyses were also carried out according to postmenstrual (PM) age in PT infants.

Methods

Urinary LH, FSH, oestradiol (E2), testosterone (T) and serum inhibin B (InhB) levels.

Results

High gonadotrophin levels in PT girls abruptly decreased (P < .001) by M2, corresponding to a PM age of 38‐42 weeks, and LH levels fell below the levels found in boys. This decrease was parallel to a steep increase in E2 levels (P < .001), and, from M4 to M6, LH and E2 correlated positively in PT girls (P < .01). T levels in PT boys increased earlier than E2 levels in PT girls. In addition, InhB levels were high in PT boys already at D7, in contrast to low InhB in PT girls. InhB and FSH correlated negatively in the whole group (P < .001).

Conclusions

Ovarian hormone synthesis is immature and incapable of responding to gonadotrophin stimulus before 38‐42 PM weeks in PT girls, which may explain their highly elevated FSH and LH levels. The higher InhB levels in boys compared to girls may explain sexual dimorphism in FSH levels.
Long‐term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis
Authors: Gomes Nathalia L. , Lerário Antônio Marcondes , Machado Aline Zamboni , Moraes Daniela Rodrigues de , Silva Thatiana Evilen da , Arnhold Ivo J. P. , Batista Rafael Loch , Faria Júnior José Antônio Diniz , Costa Elaine F. , Nishi Mirian Y. , Inacio Marlene , Domenice Sorahia , Mendonca Berenice B.
Published: April 2018

Background

Follow‐up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult.

Objective

To analyse the long‐term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation.

Methods

A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs).

Results

Age at first and last visit ranged from 0.1 to 43 and from 17 to 53 years, respectively. Spontaneous puberty was observed in 57% of the patients. During follow‐up, six of them had a gonadectomy (four due to female gender, and two because of a gonadal tumour). At last evaluation, five of six patients had adult male testosterone levels (median 16.7 nmol/L, range 15.3‐21.7 nmol/L) and elevated LH and FSH levels. Germ cell tumours were found in two postpubertal patients (one with an abdominal gonad and one patient with Frasier syndrome). Molecular diagnosis was possible in 11 patients (33%). NR5A1 variants were the most prevalent molecular defects (n = 6), and four of five patients harbouring them developed spontaneous puberty. Gender change was observed in four patients, two from each sex assignment group; all patients reported satisfaction with their gender at final evaluation. Sexual intercourse was reported by 81% of both gender and 82% of them reported satisfaction with their sexual lives.

Conclusion

Spontaneous puberty was observed in 57% of the patients with 46,XY PGD, being NR5A1 defects the most prevalent ones among all the patients and in those with spontaneous puberty. Gender change due to gender dysphoria was reported by 12% of the patients. All the patients reported satisfaction with their final gender, and most of them with their sexual life.
Measurement tools in a globalized world: is translation or redevelopment the best approach?
Authors: Gisel Erika
Published: April 2018

This commentary is on the original article by Tschirren et al. on pages 611–617 of this issue.
Assessing the role of megafauna in tropical forest ecosystems and biogeochemical cycles – the potential of vegetation models
Authors: Berzaghi Fabio , Verbeeck Hans , Nielsen Martin R. , Doughty C. E. , Bretagnolle François , Marchetti Marco , Scarascia‐Mugnozza Giuseppe
Published: April 2018

Megafauna (terrestrial vertebrate herbivores > 5 kg) can have disproportionate direct and indirect effects on forest structure, function, and biogeochemical cycles. We reviewed the literature investigating these effects on tropical forest dynamics and biogeochemical cycles in relation to ecology, paleoecology, and vegetation modelling. We highlight the limitations of field‐based studies in evaluating the long‐term consequences of loss of megafauna. These limitations are due to inherent space‐time restrictions of field‐studies and a research focus on seed dispersal services provided by large animals. We further present evidence of a research gap concerning the role of megafauna in carbon cycling in tropical ecosystems. Specifically, changes in aboveground biomass might not be noticeable in short‐term studies because of slow vegetation dynamics requiring decades to respond to disturbance (i.e. defaunation). Nutrient cycling has received even less attention in relation to the role of megafauna in tropical forests. We present an approach to investigate the effects of megafauna from new perspectives and with various tools (notably, vegetation models), which can simulate long‐term dynamics in different environmental and megafauna density scenarios. Vegetation models could facilitate interaction between plant–animal ecology and biogeochemistry research. We present practical examples on how to integrate plant–animal interactions in vegetation models to further our understanding of the role of large herbivores in tropical forests.
A trait‐based framework for discerning drivers of species co‐occurrence across heterogeneous landscapes
Authors: Kohli Brooks A. , Terry Rebecca C. , Rowe Rebecca J.
Published: April 2018

Null model analysis of species co‐occurrence patterns has long been used to gain insight into community assembly but is often limited to identifying non‐random patterns without providing clarity about underlying ecological mechanisms. This challenge is especially apparent when sampling units are spread across a heterogeneous landscape or along an environmental gradient because multiple mechanisms can produce similar co‐occurrence patterns. We developed a trait‐based approach for discriminating between environmental filtering and biotic interactions as the probable driver of co‐occurrence patterns across environmentally heterogeneous sites. We demonstrate our framework by analyzing the co‐occurrence of small mammals over elevation in three independent mountain ranges in the Great Basin of the western United States. Our sampling design accounts for landscape scale environmental variability and within‐site habitat heterogeneity. We identified 52 non‐random species pairs, of which 36 were aggregated and 16 were segregated. For each pair, we determined which mechanism was the likely ecological explanation using a hypothesis‐testing framework based on functional trait similarity. Expectations of biotic interactions were based on similarity of diet and body size whereas habitat affinity and geographic range were used for environmental filtering. Only four pairs were consistent with expectations under biotic interactions, including pairs for which competitive exclusion has previously been documented. In addition to analyzing individual pairs, we used binomial tests of observed versus expected totals of intra‐ and inter‐guild pairs to determine assemblage‐wide deviations from random community structure. Signatures of environmental filtering were consistent across mountain ranges and scales. Despite differences in species composition and significant pairs among data sets, our approach revealed consistent mechanistic conclusions, emphasizing the value of trait‐based methods to co‐occurrence and community assembly.
Ecological niche features override biological traits and taxonomic relatedness as predictors of occupancy and abundance in lake littoral macroinvertebrates
Authors: Heino Jani , Tolonen Kimmo T.
Published: April 2018

The degree to which species ecological and biological traits determine their distribution and abundance has intrigued ecologists for a long time, and it has seen a revival in recent years. This topic is important because it provides information about the determinants of species rarity and their conservation implications. We examined the effects of niche breadth, niche position, biological traits and taxonomic relatedness on the interspecific occupancy–abundance relationship, as well as on occupancy and abundance, in lake littoral macroinvertebrates. We sampled 48 lakes in a boreal lake district, found altogether 155 species, and calculated regional occupancy (as the proportion of sites occupied) and local abundance (as mean abundance at occupied sites) for each species. We determined niche position and niche breadth for each species using the outlying mean index analysis. Also, we calculated trait vectors and taxonomic vectors describing species trait similarity and taxonomic relatedness, respectively, using principal coordinates analysis. We found a strong positive occupancy–abundance relationship that was mostly explained by among‐species variation in niche position, followed by niche breadth. Instead, trait vectors and taxonomic vectors tended to be less important in affecting occupancy and abundance than the niche features. Our results strongly suggest that niche position, a measure of habitat availability for littoral macroinvertebrates, is the chief determinant of their occupancy and abundance. This finding has important implications for ecology and conservation of species, as species with marginal niche position, a reflection of low habitat availability, are both regionally rare and locally uncommon. Such species may face double jeopardy if environmental conditions change and affect their preferred marginal habitat types.
Phloem nutrition of detached cabbage leaves varies with leaf age and influences performance of the green peach aphid, Myzus persicae
Authors: Cao He‐He , Wu Jun , Zhang Zhan‐Feng , Liu Tong‐Xian
Published: April 2018

Aphids mainly feed on the phloem sap of host plants and their performance is determined by nutrients and defensive metabolites in their diet. Plant leaves are connected with each other by phloem bundles and thus plant resistance to aphids may require the leaves be intact. Excised plant tissues usually have different resistance levels to aphids compared with intact plants; however, the underlying mechanism remains unknown. In this study, we found that the green peach aphid, Myzus persicae (Sulzer) (Hemiptera: Aphididae), strongly preferred detached young cabbage leaves, but exhibited a poorer performance on these leaves than on detached mature leaves. Compared with other leaves, detached young leaves contained higher levels of arginine, asparagine, methionine, and valine, whereas young leaves showed a very poor phloem nutritional quality, reflected by significantly lower amino acid concentrations in aphid honeydew. In contrast, honeydew produced by aphids feeding on detached old leaves and mature leaves contained higher total amino acid concentrations and lower total sugar contents, indicating higher phloem nutritional quality. Because honeydew excretion rates were comparable among aphids feeding on different leaves, the poorer performance of aphids on detached young leaves may be explained by the lower nutritional quality and food quantity that aphids had ingested. On the other hand, levels of most glucosinolates were the highest in detached young leaves and the lowest in detached old leaves, suggesting that the higher attractiveness of young leaves for aphids is not likely determined by glucosinolates. These results suggest that total amino acids that aphids can ingest play a key role in determining aphid performance. Future studies on plant resistance to aphids should focus on both phloem nutritional quality and aphid feeding rate, and should avoid using excised leaves or detached plant tissues.
Human Disease/Clinical Medical Sciences in Dentistry: Current state and future directions of undergraduate teaching in the UK and Ireland
Authors: Atkin P. A. , Thomas S. , Cook R. J. , Greenwood M. , Bennett J. H. , Willis A. , Donachie C. , Ni Riordain R. , Galvin S. , Crighton A. , Mighell A. J. , Bakri I.
Published: April 2018

In March 2017, a group of teachers of human disease/clinical medical science (HD/CMSD) representing the majority of schools from around the UK and Republic of Ireland met to discuss the current state of teaching of human disease and also to discuss how the delivery of this theme might evolve to inform improved healthcare. This study outlines how the original teaching in medicine and surgery to dental undergraduate students has developed into the theme of HD/CMSD reflecting changing needs as well as guidance from the regulators, and how different dental schools have developed their approaches to reach their current state. Each school was also asked to share a strengths, weakness, opportunities and threats (SWOT) analysis of their programme and to outline how they thought their HD/CMSD programme may develop. The school representatives who coordinate the delivery and assessment of HD/CMSD in the undergraduate curriculum have extensive insight in this area and are well‐placed to shape the HD/CMSD development for the future.
Heterotrophic nitrification is responsible for large rates of N2O emission from subtropical acid forest soil in China
Authors: Zhang Y. , Zhao W. , Cai Z. , Müller C. , Zhang J.
Published: April 2018

Subtropical acidic forest soil is an important source of global nitrous oxide (N2O). However, the rates of autotrophic nitrification and denitrification in such soil are less than in temperate forest soil. We hypothesized that this difference is related to different N2O production pathways. We carried out paired 15N‐labelling experiments under aerobic conditions (60% water‐holding capacity) in the laboratory to compare N2O production pathways between subtropical and temperate forest soils to determine the differences in N2O production based on controlling factors. Our results showed that the contributions of NH4+ oxidation to NO3− to total N2O production (CNH4) were small in all soils studied (21–30%). Contributions of denitrification to total N2O production (CNO3) in subtropical forest soil (34%) were significantly less than those in temperate forest soil (54%). However, rates of N2O emission from denitrification (N2Od) were similar between subtropical and temperate forest soils, indicating that denitrification was probably not the predominant process causing the difference between the rates of N2O production in these soils. The average contribution of heterotrophic nitrification to total N2O production (CON) was significantly larger in subtropical forest soil (45%) than in temperate forest soil (15%). Soil pH and the C:N ratio were identified as key factors, with CON negatively correlated with soil pH (r = −0.60, P < 0.05) and positively correlated with soil C:N ratio (r = 0.78, P < 0.01), although the significance was probably weakened when forest types were taken into consideration. The rate of N2O production by heterotrophic nitrification (N2Oh) (average, 3.0 μg N kg−1 day−1) was also significantly larger in subtropical forest soil than in temperate forest soil (average, 0.7 μg N kg−1 day−1). Therefore, based on this study, the heterotrophic N2O pathway seems responsible for the larger N2O production in subtropical acid forest soil than in temperate forest soil. This study is among the first to elucidate in detail contributions to the processes of N2O production and to account for its large rates of production in subtropical acidic forest soil in China, which has implications for the prediction of N2O production in forest soil using ecosystem modelling.

Highlights

Examined N2O production pathways in subtropical and temperate forest soils.

Rate of N2O emission in subtropical forest soil was larger than temperate forest soil.

Heterotrophic nitrification was responsible for large N2O production in subtropical soil.

Soil pH and C:N ratio were identified as key factors affecting the N2O production pathway.
Syndrome and outcome of antibody‐negative limbic encephalitis
Authors: Graus F. , Escudero D. , Oleaga L. , Bruna J. , Villarejo‐Galende A. , Ballabriga J. , Barceló M. I. , Gilo F. , Popkirov S. , Stourac P. , Dalmau J.
Published: April 2018

Background and purpose

The aim was to report the clinical characteristics of 12 patients with limbic encephalitis (LE) who were antibody‐negative after a comprehensive immunological study.

Methods

The clinical records of 163 patients with LE were reviewed. Immunohistochemistry on rat brain, cultured neurons and cell‐based assays were used to identify neuronal autoantibodies. Patients were included if (i) there was adequate clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging information to classify the syndrome as LE, (ii) magnetic resonance images were accessible for central review and (iii) serum and CSF were available and were confirmed negative for neuronal antibodies.

Results

Twelve (7%) of 163 LE patients [median age 62 years; range 40–79; 9 (75%) male] without neuronal autoantibodies were identified. The most frequent initial complaints were deficits in short‐term memory leading to hospital admission in a few weeks (median time 2 weeks; range 0.5–12). In four patients the short‐term memory dysfunction remained as an isolated symptom during the entire course of the disease. Seizures, drowsiness and psychiatric problems were unusual. Four patients had solid tumors (one lung, one esophagus, two metastatic cervical adenopathies of unknown primary tumor) and one chronic lymphocytic leukemia. CSF showed pleocytosis in seven (58%) with a median of 13 white blood cells/mm3 (range 9–25). Immunotherapy included corticosteroids, intravenous immunoglobulins and combinations of both drugs or with rituximab. Clinical improvement occurred in six (54%) of 11 assessable patients.

Conclusions

Despite the discovery of new antibodies, 7% of LE patients remain seronegative. Antibody‐negative LE is more frequent in older males and usually develops with predominant or isolated short‐term memory loss. Despite the absence of antibodies, patients may have an underlying cancer and respond to immunotherapy.
Effects of dams decrease zooplankton functional β‐diversity in river‐associated lakes
Authors: Braghin Louizi de Souza Magalhães , Almeida Bia de Arruda , Amaral Diogo Castanho , Canella Tassia Felício , Gimenez Barbara Carolina Garcia , Bonecker Claudia Costa
Published: April 2018

In river–floodplain systems, the construction of dams causes environmental changes in the natural dynamics of rivers and the associated wetlands, which can affect both the taxonomic and functional composition of communities, and, consequently, ecosystem functioning.

We evaluated zooplankton taxonomic and functional β‐diversity in sets of lakes associated with a preserved and a dammed river in a Neotropical floodplain. We expected that both β‐diversity measures would be lower in lakes associated with a dammed river than in lakes associated with a preserved river. β‐Diversity was partitioned into turnover and nestedness components, through multiple‐site dissimilarity measures, and compared with expected null models. We expected that nestedness would be more important for both the β‐diversity measures in lakes associated with the dammed river, whereas species and trait turnover would be more important in lakes associated with the preserved river.

Functional β‐diversity was higher among lakes of the preserved river than of the dammed river, while taxonomic β‐diversity was not different between the rivers. Contributions of turnover and nestedness components were similar in the preserved river, whereas that of nestedness was higher in the dammed river, revealing the loss of extreme trait combinations from the functional space. Comparisons between observed and expected β‐diversity revealed a higher trait turnover than would be expected by species turnover in the preserved river, and no differences from the null models were observed in lakes associated with the dammed river.

Our results suggest that dissimilarity in trait composition is influenced more by environmental changes associated with river damming than by dissimilarity in species composition such that a functional homogenisation occurs without a change in taxonomic β‐diversity. We propose the maintenance of preserved tributaries in floodplains, which sustain environmental heterogeneity, primarily if the nearby environments are already dammed. Furthermore, we reinforce the necessity of a pluralistic approach, considering both taxonomic and functional aspects of biodiversity in ecosystem management.
Flotillin‐1 interacts with the serotonin transporter and modulates chronic corticosterone response
Authors: Reisinger S. N. , Kong E. , Molz B. , Humberg T. , Sideromenos S. , Cicvaric A. , Steinkellner T. , Yang J.‐W. , Cabatic M. , Monje F. J. , Sitte H. H. , Nichols B. J. , Pollak D. D.
Published: April 2018

Aberrant serotonergic neurotransmission in the brain is considered at the core of the pathophysiological mechanisms involved in neuropsychiatric disorders. Gene by environment interactions contribute to the development of depression and involve modulation of the availability and functional activity of the serotonin transporter (SERT). Using behavioral and in vivo electrophysiological approaches together with biochemical, molecular‐biological and molecular imaging tools we establish Flotillin‐1 (Flot1) as a novel protein interacting with SERT and demonstrate its involvement in the response to chronic corticosterone (CORT) treatment. We show that genetic Flot1 depletion augments chronic CORT‐induced behavioral despair and describe concomitant alterations in the expression of SERT, activity of serotonergic neurons and alterations of the glucocorticoid receptor transport machinery. Hence, we propose a role for Flot1 as modulatory factor for the depressogenic consequences of chronic CORT exposure and suggest Flotillin‐1‐dependent regulation of SERT expression and activity of serotonergic neurotransmission at the core of the molecular mechanisms involved.