bluuebunny/crossref_metadata_2025 huggingface dataset:
Prevalence of peri‐implantitis in patients not participating in well‐designed supportive periodontal treatments: a cross‐sectional study
Authors: Rokn Amirreza , Aslroosta Hoori , Akbari Solmaz , Najafi Hossein , Zayeri Farid , Hashemi Kazem
Published: February 2016

Objectives

This retrospective cross‐sectional study aimed to evaluate the prevalence of biologic complications of implants in patients treated by fixed implant supported prosthesis without regular maintenance program.

Materials and methods

One hundred thirty‐four patients with 478 implants, installed during a 10‐year period (2001–2010), were recruited for clinical and radiographic follow‐up examinations. The periodontal and implant health status were assessed to determine the prevalence of peri‐implant diseases.

Results

The mean ± SD loading time for implants was 4.43 ± 2.25 years. Fifty‐five percentage of the implants were tissue‐level implants. Peri‐implantitis was diagnosed in 20% of patients and 8.8% of implants. Subject‐based and implant‐based prevalence of mucositis amounted to 48.5% and 40%, respectively. Mean crestal bone loss in tissue‐level and bone‐level implants were 0.28 ± 0.53 mm and 1.37 ± 1.5 mm, respectively. Smoking and lack of keratinized mucosa was associated with peri‐implantitis at an odds ratio of OR = 2.57 and 3.89, respectively.

Conclusions

After a 5‐year period of loading without any regular maintenance program, one out of five patients would experience peri‐implantitis. Tissue‐level implants had lower values of peri‐implantitis prevalence and crestal bone loss.
Single implants in the aesthetic region preceded by local ridge augmentation; a 10‐year randomized controlled trial
Authors: Meijndert Caroliene M. , Raghoebar Gerry M. , Meijndert Leo , Stellingsma Kees , Vissink Arjan , Meijer Henny J. A.
Published: February 2016

Objectives

The aim of this randomized controlled trial was to assess the 10‐year effects of three different augmentation techniques (augmentation with chin bone, augmentation with chin bone plus a membrane and augmentation with a bone substitute plus a membrane) for implant‐supported restorations in the maxillary aesthetic region regarding clinical and radiographic parameters, and patient‐centred outcomes.

Materials and methods

Ninety‐three patients requesting single tooth replacement and presenting with a horizontal bone deficiency were included. After augmentation, 93 implants were placed. Clinical variables, standardized radiographs and photographs and patient questionnaires were analysed to assess the impact of the various augmentation techniques 1 month (T1), 12 months (T12) and 120 months (T120) after final crown placement.

Results

10‐years implant survival was 95.7% and did not differ between the groups neither were significant differences observed in the other treatment outcomes assessed. Peri‐implant bone loss was low, viz. 0.48 ± 1.19 mm (mesial) and 0.30 ± 1.24 mm (distal) at T120. Loss of midbuccal marginal gingival level at T120 was 0.32 ± 0.83 mm. Mean overall satisfaction at T120 was 8.6 with 98.6% of the patients satisfied.

Conclusions

Clinical, radiographic, aesthetic and patient centred outcomes were very favourable after 10 years and did not differ between the groups with different bone augmentation techniques.
Altered expectations on dental implant therapy; views of patients referred for treatment of peri‐implantitis
Authors: Abrahamsson Kajsa H. , Wennström Jan L. , Berglundh Tord , Abrahamsson Ingemar
Published: February 2016

Aim

The aim was to explore patients' reactions on being diagnosed with peri‐implantitis, their opinions on dental implant therapy and expectations on treatment of the disease.

Material and methods

The study subjects were patients referred to a specialist clinic for treatment of peri‐implantitis. The method of grounded theory was used in collecting and analyzing data. Audiotaped, thematized open‐ended interviews were conducted. The interviews were transcribed verbatim and consecutively analyzed in hierarchical coding processes that continued until saturation was met (n = 15).

Results

In the analysis, a conceptual model was generated that illuminated a process among patients. From having very high initial expectations on dental implant therapy as a permanent solution of oral/dental problems, patients realized that dental implants, such as teeth, require continuous care and that there is no guarantee for that dental implants provides a treatment alternative free from future problems. The core concept of the model “altered expectations on dental implant therapy” was composed of three main categories: “initial expectations on dental implant therapy and living with dental implants”, “being referred to periodontist and become diagnosed with peri‐implantitis” and “investing again in an expensive therapy with no guarantee for the future”.

Conclusion

Patients may have unrealistically high expectations on dental implant therapy. The results illuminate the importance of patient‐centered communication in dentistry and that treatment decisions should be based not only on professional expertise but also on expectations, abilities, wishes and life circumstances of the individual patient.
Assessing the extent and nature of wildlife trade on the dark web
Authors: Harrison Joseph R. , Roberts David L. , Hernandez‐Castro Julio
Published: February 2016

Use of the internet as a trade platform has resulted in a shift in the illegal wildlife trade. Increased scrutiny of illegal wildlife trade has led to concerns that online trade of wildlife will move onto the dark web. To provide a baseline of illegal wildlife trade on the dark web, we downloaded and archived 9852 items (individual posts) from the dark web, then searched these based on a list of 121 keywords associated with illegal online wildlife trade, including 30 keywords associated with illegally traded elephant ivory on the surface web. Results were compared with items known to be illegally traded on the dark web, specifically cannabis, cocaine, and heroin, to compare the extent of the trade. Of these 121 keywords, 4 resulted in hits, of which only one was potentially linked to illegal wildlife trade. This sole case was the sale and discussion of Echinopsis pachanoi (San Pedro cactus), which has hallucinogenic properties. This negligible level of activity related to the illegal trade of wildlife on the dark web relative to the open and increasing trade on the surface web may indicate a lack of successful enforcement against illegal wildlife trade on the surface web.
Estimating Sonoran pronghorn abundance and survival with fecal DNA and capture–recapture methods
Authors: Woodruff Susannah P. , Lukacs Paul M. , Christianson David , Waits Lisette P.
Published: February 2016

Population abundance estimates are important for management but can be challenging to determine in low‐density, wide‐ranging, and endangered species, such as Sonoran pronghorn (Antilocapra americana sonoriensis). The Sonoran pronghorn population has been increasing; however, population estimates are currently derived from a biennial aerial count that does not provide survival or recruitment estimates. We identified individuals through noninvasively collected fecal DNA and used robust‐design capture–recapture to estimate abundance and survival for Sonoran pronghorn in the United States from 2013 to 2014. In 2014 we generated separate population estimates for pronghorn gathered near 13 different artificial water holes and for pronghorn not near water holes. The population using artificial water holes had 116 (95% CI 102–131) and 121 individuals (95% CI 112–132) in 2013 and 2014, respectively. For all locations, we estimated there were 144 individuals (95% CI 132–157). Adults had higher annual survival probabilities (0.83, 95% CI 0.69–0.92) than fawns (0.41, 95% CI 0.21–0.65). Our use of targeted noninvasive genetic sampling and capture–recapture with Sonoran pronghorn fecal DNA was an effective method for monitoring a large proportion of the population. Our results provided the first survival estimates for this population in over 2 decades and precise estimates of the population using artificial water holes. Our method could be used for targeted sampling of broadly distributed species in other systems, such as in African savanna ecosystems, where many species congregate at watering sites.
Missing the Forest for the Trees: Balancing Shale Exploration and Conservation Goals through Policy
Authors: Klaiber Allen H. , Gopalakrishnan Sathya , Hasan Syed
Published: February 2016

Unconventional shale gas activity has presented both challenges and opportunities for conservation. The unique nature of horizontal drilling used in shale exploration allows for a reduction in the footprint of shale‐related activity in the landscape. However, existing policies regulating shale activity across the Northeast, particularly in Pennsylvania, largely miss an opportunity to encourage such consolidation, which would result in substantial ecosystem conservation. Using satellite land cover data for the years 2006 and 2011 combined with data on shale drilling activity in Pennsylvania, we show that a consolidation of wells to underutilized well pads would have resulted in a forest conservation gain of over 112,838 acres between 2006 and 2015. While likely an overestimate, this suggests that small changes in policy such as moving toward a quantity‐based market mechanism to regulate the number of well pads would result in substantial conservation gains.
Plants' native distributions do not reflect climatic tolerance
Authors: Bocsi Tierney , Allen Jenica M. , Bellemare Jesse , Kartesz John , Nishino Misako , Bradley Bethany A.
Published: February 2016

Aim

Biogeographers have long known that plant species do not fully encompass their fundamental niche. Nonetheless, in practice, species distribution modelling assumes that plant distributions represent a reasonable approximation of their environmental tolerance. For ecological forecasting, projections of habitat loss due to climate change assume that many species will be unable to tolerate climate conditions outside of those found within their current distributional ranges. We aim to test how well occurrences in the native range approximate the climatic conditions in which plant species can survive.

Location

Continental USA.

Methods

We compared the climatic conditions between occurrences in the US native versus US non‐native ranges using 144 non‐invasive plant species. We quantified differences in January minimum temperature, July maximum temperature and annual precipitation as indicators of climatic tolerance. We also compared modelled potential distributions throughout the US based on native and total ranges to test how expanded climatic tolerance translates into predicted geographical range.

Results

Most species (86%) had non‐native occurrences in climates outside those described by their native distributions. For the 80 species with lower minimum temperatures at non‐native occurrences, the median expansion of minimum temperature tolerance was −2.9 °C. Similarly, for the 90 species with lower precipitation at non‐native occurrences, the median expansion of minimum annual precipitation was −23 cm. Broader climatic conditions at non‐native occurrences expanded the modelled potential geographical range by a median of 35%, with smaller range species showing larger expansions of potential geographical range.

Main conclusions

Our results show that plants' native ranges strongly underestimate climatic tolerance, leading species distribution models to underpredict potential range. The climatic tolerance of species with narrow native ranges appears most prone to underestimation. These findings suggest that many plants will be able to persist in situ with climate change for far longer than projected by species distribution models.
Responsible Risk Taking: The Neoliberal Biopolitics of People Living with HIV/AIDS in Rwanda
Authors: Knutsson Beniamin
Published: February 2016

While access to antiretroviral therapy has improved worldwide, many people living with HIV/AIDS (PLHIV) still suffer from economic hardship. Socio‐economic impact mitigation is therefore becoming an increasingly important component of the global HIV/AIDS response. The content of such strategies, however, is dependent on the political rationalities underpinning them. Drawing on fieldwork in Rwanda, this article explores programmatic efforts by the Rwandan government and its international partners to govern the economic life of PLHIV. These interventions are conceptualized as a form of biopolitics and the article analyses the neoliberal modalities of government through which it operates. At the centre of the strategy is a pretension to transform PLHIV from economically unproductive life, sustained by medical means, into a resilient and enterprising population willing to accept responsibility for their own livelihoods. However, according to the strategy, the only way for PLHIV to lead responsible economic lives is by daring to become entrepreneurial and enrolling in microcredit schemes. Thus the dubious message conveyed is that responsible conduct is tantamount to exposing oneself to risk. The article also discusses the complex coexistence of this neoliberal biopolitics and the Rwandan government's known efforts to exercise sovereign control.
Oocyte aging in a marine protostome worm: The roles of maturation‐promoting factor and extracellular signal regulated kinase form of mitogen‐activated protein kinase
Authors: Stricker Stephen A. , Beckstrom Bradley , Mendoza Cristina , Stanislawski Emma , Wodajo Tewodros
Published: February 2016

The roles of maturation‐promoting factor (MPF) and an extracellular signal regulated kinase form of mitogen‐activated protein kinase (ERK MAPK) are analyzed during oocyte aging in the marine protostome worm Cerebratulus. About a day after removal from the ovary, unfertilized metaphase‐I‐arrested oocytes of Cerebratulus begin to flatten and swell before eventually lysing, thereby exhibiting characteristics of a necroptotic mode of regulated cell death. Based on immunoblots probed with phospho‐specific antibodies, MPF and ERK are initially active in freshly mature specimens. However, as oocytes age, both kinase activities decline, with ERK deactivation occurring well before MPF downregulation. Experiments using pharmacological modulators indicate that oocyte degradation is promoted by the maturation‐initiated activation of ERK as well as by the deactivation of MPF that occurs in extensively aged specimens. The potential significance of these findings is discussed relative to previously published results for apoptotic eggs and oocytes of echinoderm and vertebrate deuterostomes.
Relations between muscle endurance and subjectively reported fatigue, walking capacity, and participation in mildly affected adolescents with cerebral palsy
Authors: Eken Maaike M , Houdijk Han , Doorenbosch Caroline A M , Kiezebrink Francisca E M , van Bennekom Coen A M , Harlaar Jaap , Dallmeijer Annet J
Published: February 2016

Aim

To investigate the relation between muscle endurance and subjectively reported fatigue, walking capacity, and participation in mildly affected adolescents with cerebral palsy (CP) and peers with typical development.

Method

In this case–control study, knee extensor muscle endurance was estimated from individual load–endurance curves as the load corresponding to a 15‐repetition maximum in 17 adolescents with spastic CP (six males, 11 females; age 12–19y) and 18 adolescents with typical development (eight males, 10 females; age 13–19y). Questionnaires were used to assess subjectively reported fatigue (Pediatric Quality of Life Inventory Multidimensional Fatigue Scale) and participation (Life‐Habits questionnaire). Walking capacity was assessed using the 6‐minute walk test. Relations were determined using multiple regression analyses.

Results

Muscle endurance related significantly to subjectively reported fatigue and walking capacity in adolescents with CP, while no relations were found for adolescents with typical development (subjectively reported fatigue: regression coefficient β [95% confidence intervals] for CP=23.72 [6.26 to 41.18], for controls=2.72 [−10.26 to 15.69]; walking capacity β for CP=125m [−87 to 337], for controls=2m [−86 to 89]). The 15‐repetition maximum did not relate to participation in adolescents with CP.

Interpretation

Subjectively reported fatigue and reduced walking capacity in adolescents with CP are partly caused by lower muscle endurance of knee extensors. Training of muscle endurance might contribute to reducing the experience of fatigue and improving walking capacity. Reduced muscle endurance seems to have no effect on participation.
Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency
Authors: Menezes Manoj P , O'Brien Katherine , Hill Mandy , Webster Richard , Antony Jayne , Ouvrier Robert , Birman Catherine , Gardner‐Berry Kirsty
Published: February 2016

Aim

Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown–Vialetto–Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy.

Method

We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual.

Results

Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent‐onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual.

Interpretation

Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation.
THE IMPACT OF MACROECONOMIC CONDITIONS IN CHILDHOOD ON ADULT LABOR MARKET OUTCOMES
Authors: Rao Neel
Published: February 2016

This study examines the influence of business cycles in childhood on economic performance later in life. I relate unemployment rates between the year before one's birth and the year of one's 15th birthday to schooling, employment, and income as an adult. The analysis exploits variation in macroeconomic conditions across states over time. I address a number of identification challenges related to cohort effects, linear trends, current events, and economic persistence. The caregiving behaviors and background characteristics of parents are also studied. The average unemployment rate in childhood normally has a negative effect on human capital in adulthood. (JELJ11, J24, J31)
Mountain roads shift native and non‐native plant species' ranges
Authors: Lembrechts Jonas J. , Alexander Jake M. , Cavieres Lohengrin A. , Haider Sylvia , Lenoir Jonathan , Kueffer Christoph , McDougall Keith , Naylor Bridgett J. , Nuñez Martín A. , Pauchard Aníbal , Rew Lisa J. , Nijs Ivan , Milbau Ann
Published: February 2016

Roads are known to act as corridors for dispersal of plant species. With their variable microclimate, role as corridors for species movement and reoccurring disturbance events, they show several characteristics that might influence range dynamics of both native and non‐native species. Previous research on plant species ranges in mountains however seldom included the effects of roads. To study how ranges of native and non‐native species differ between roads and adjacent vegetation, we used a global dataset of plant species composition along mountain roads. We compared average elevation and range width of species, and used generalized linear mixed models (GLMMs) to compile their range optimum and amplitude. We then explored differences between roadside and adjacent plots based on a species’ origin (native vs non‐native) and nitrogen and temperature affinity. Most non‐native species had on average higher elevational ranges and broader amplitudes in roadsides. Higher optima for non‐native species were associated with high nitrogen and temperature affinity. While lowland native species showed patterns comparable to those in non‐native species, highland native species had significantly lower elevational ranges in roadsides compared to the adjacent vegetation. We conclude that roadsides indeed change the elevational ranges of a variety of species. These changes are not limited to the expansion of non‐native species along mountain roads, but also include both upward and downward changes in ranges of native species. Roadsides may thus facilitate upward range shifts, for instance related to climate change, and they could serve as corridors to facilitate migration of alpine species between adjacent high‐elevation areas. We recommend including the effects of mountain roads in species distribution models to fine‐tune the predictions of range changes in a warming climate.
Overexpression of DJ‐1/PARK7, the Parkinson's disease‐related protein, improves mitochondrial function via Akt phosphorylation on threonine 308 in dopaminergic neuron‐like cells
Authors: Zhang Yi , Gong Xiao‐Gang , Wang Zhen‐Zhen , Sun Hong‐Mei , Guo Zhen‐Yu , Hu Jing‐Hong , Ma Ling , Li Ping , Chen Nai‐Hong
Published: February 2016

DJ‐1/PARK7, the Parkinson's disease‐related protein, plays an important role in mitochondrial function. However, the mechanisms by which DJ‐1 affects mitochondrial function are not fully understood. Akt is a promoter of neuron survival and is partly involved in the neurodegenerative process. This research aimed at investigating a possible relationship between DJ‐1 and Akt signalling in regulating mitochondrial function in the dopaminergic neuron‐like cells SH‐SY5Y and PC‐12. Overexpression of DJ‐1 was firstly validated at both the transcriptional and translational levels after transit transfection with plasmid pcDNA3‐Flag‐DJ‐1. Confocal fluorescence microscopy demonstrated that overexpression of DJ‐1 increased the mitochondrial mass, but did not disrupt the mitochondrial morphology. In addition, mitochondrial complex I activity was raised in DJ‐1‐overexpressing cells, and this rise occurred with an increase in cellular adenosine 5′‐triphosphate content. Moreover, immunoblotting demonstrated that the levels of phosphoinositide 3‐kinase and the total Akt were not altered in DJ‐1‐overexpressing cells, and nor was the Akt phosphorylation on serine 473 changed. By contrast, Akt phosphorylation on threonine 308 was significantly augmented by overexpression of DJ‐1, and the expression of glycogen synthase kinase‐3beta, a downstream effector of Akt, was suppressed. In summary, these results suggest that overexpression of DJ‐1 improves the mitochondrial function, at least in part, through a mechanism involving Akt phosphorylation on threonine 308.
Rest tremor in idiopathic adult‐onset dystonia
Authors: Gigante A. F. , Berardelli A. , Defazio G.
Published: February 2016

Background

Tremor in dystonia has been described as a postural or kinetic abnormality. In recent series, however, patients with idiopathic adult‐onset dystonia also displayed rest tremor.

Methods

The frequency and distribution of rest tremor were studied in a cohort of 173 consecutive Italian patients affected by various forms of idiopathic adult‐onset dystonia attending our movement disorder clinic over 8 months.

Results

Examination revealed tremor in 59/173 patients (34%): 12 patients had head tremor, 34 patients had arm tremor, whilst 13 patients presented tremor in both sites. Head tremor was postural in all patients, whereas arm tremor was postural/kinetic in 28 patients, only at rest in one and both postural/kinetic and at rest in 18 patients. Patients with tremor were more likely to have segmental/multifocal dystonia. Patients who had rest tremor (either alone or associated with action tremor) had a higher age at dystonia onset and a greater frequency of dystonic arm involvement than patients with action tremor alone or without tremor.

Conclusions

Both action and rest tremor are part of the tremor spectrum of adult‐onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia.
Does serum uric acid act as a modulator of cerebrospinal fluid Alzheimer's disease biomarker related cognitive decline?
Authors: Ye B. S. , Lee W. W. , Ham J. H. , Lee J. J. , Lee P. H. , Sohn Y. H. ,   the Alzheimer's Disease Neuroimaging Initiative
Published: February 2016

Background and purpose

The association of serum uric acid, cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) and longitudinal cognitive decline was evaluated using the AD Neuroimaging Initiative database.

Methods

In 271 healthy subjects, 596 mild cognitive impairment patients and 197 AD patients, serum uric acid and CSF AD biomarkers were measured at baseline, and Mini‐Mental State Examination and AD Assessment Scale − Cognitive Subscale (ADAS‐cog) were assessed serially (mean duration, 2.9 years). The effect of uric acid on longitudinal cognitive decline was evaluated using linear mixed effect models for Mini‐Mental State Examination and ADAS‐cog scores in female and male subjects separately, with possible confounders controlled (model 1). To determine the effects of uric acid independent of CSF biomarker (Aβ1–42 or tau) and to test whether the detrimental effects of CSF biomarker differ according to uric acid, CSF biomarker and its interaction with uric acid were further included in model 1 (model 2).

Results

Higher levels of uric acid were associated with slower cognitive decline, particularly in the mild cognitive impairment and dementia subgroups, and more prominently in female subjects. Model 2 with CSF Aβ1–42 showed that higher levels of uric acid were associated with a slower cognitive decline and alleviated the detrimental effect of Aβ1–42 on cognitive decline. Model 2 with CSF tau showed that higher levels of uric acid alleviated the detrimental effect of tau on cognitive decline in female subjects but not in male subjects.

Conclusion

Higher levels of uric acid had protective effects on longitudinal cognitive decline independent of and interactively with CSF AD biomarkers.
Comparison of fungiform taste‐bud distribution among age groups using confocal laser scanning microscopy in vivo in combination with gustatory function
Authors: Saito Takehisa , Ito Tetsufumi , Ito Yumi , Manabe Yasuhiro , Sano Kazuo
Published: February 2016

The aim of this study was to compare the distribution of taste buds in fungiform papillae (FP) and gustatory function between young and elderly age groups. Confocal laser scanning microscopy was used because it allows many FP to be observed non‐invasively in a short period of time. The age of participants (n = 211) varied from 20 to 83 yr. The tip and midlateral region of the tongue were observed. Taste buds in an average of 10 FP in each area were counted. A total of 2,350 FP at the tongue tip and 2,592 FP in the midlateral region could be observed. The average number of taste buds was similar among all age groups both at the tongue tip and in the midlateral region. The taste function, measured by electrogustometry, among participants 20–29 yr of age was significantly lower than that in the other age groups; however, there was no difference among any other age groups in taste function. These results indicate that the peripheral gustatory system is well maintained anatomically and functionally in elderly people.
Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP1‐related epileptic encephalopathy
Authors: Yamashita Satoshi , Chiyonobu Tomohiro , Yoshida Michiko , Maeda Hiroshi , Zuiki Masashi , Kidowaki Satoshi , Isoda Kenichi , Morimoto Masafumi , Kato Mitsuhiro , Saitsu Hirotomo , Matsumoto Naomichi , Nakahata Tatsutoshi , Saito Megumu K. , Hosoi Hajime
Published: February 2016

Syntaxin‐binding protein 1 (STXBP1) is essential for synaptic vesicle exocytosis. Mutations of its encoding gene, STXBP1, are among the most frequent genetic causes of epileptic encephalopathies. However, the precise pathophysiology of STXBP1 haploinsufficiency has not been elucidated. Using patient‐derived induced pluripotent stem cells (iPSCs), we aimed to establish a neuronal model for STXBP1 haploinsufficiency and determine the pathophysiologic basis for STXBP1 encephalopathy. We generated iPSC lines from a patient with Ohtahara syndrome (OS) harboring a heterozygous nonsense mutation of STXBP1 (c.1099C>T; p.R367X) and performed neuronal differentiation. Both STXBP1 messenger RNA (mRNA) and STXBP1 protein expression levels of OS‐derived neurons were approximately 50% lower than that of control‐derived neurons, suggesting that OS‐derived neurons are a suitable model for elucidating the pathophysiology of STXBP1 haploinsufficiency. Through Western blot and immunocytochemistry assays, we found that OS‐derived neurons show reduced levels and mislocalization of syntaxin‐1, a component of soluble N‐ethylmaleimide‐sensitive factor attachment receptor (SNARE) proteins. In addition, OS‐derived neurons have impaired neurite outgrowth. In conclusion, this model enables us to investigate the neurobiology of STXBP1 encephalopathy throughout the stages of neurodevelopment. Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin‐1 that may contribute to the devastating phenotype of STXBP1 encephalopathy.
Structural and kinetic studies on RosA, the enzyme catalysing the methylation of 8‐demethyl‐8‐amino‐d‐riboflavin to the antibiotic roseoflavin
Authors: Tongsook Chanakan , Uhl Michael K. , Jankowitsch Frank , Mack Matthias , Gruber Karl , Macheroux Peter
Published: February 2016

N,N‐8‐demethyl‐8‐amino‐d‐riboflavin dimethyltransferase (RosA) catalyses the final dimethylation of 8‐demethyl‐8‐amino‐d‐riboflavin (AF) to the antibiotic roseoflavin (RoF) in Streptomyces davawensis. In the present study, we solved the X‐ray structure of RosA, and determined the binding properties of substrates and products. Moreover, we used steady‐state and rapid reaction kinetic studies to obtain detailed information on the reaction mechanism. The structure of RosA was found to be similar to that of previously described S‐adenosylmethionine (SAM)‐dependent methyltransferases, featuring two domains: a mainly α‐helical ‘orthogonal bundle’ and a Rossmann‐like domain (α/β twisted open sheet). Bioinformatics studies and molecular modelling enabled us to predict the potential SAM and AF binding sites in RosA, suggesting that both substrates, AF and SAM, bind independently to their respective binding pocket. This finding was confirmed by kinetic experiments that demonstrated a random‐order ‘bi‐bi’ reaction mechanism. Furthermore, we determined the dissociation constants for substrates and products by either isothermal titration calorimetry or UV/Vis absorption spectroscopy, revealing that both products, RoF and S‐adenosylhomocysteine (SAH), bind more tightly to RosA compared with the substrates, AF and SAM. This suggests that RosA may contribute to roseoflavin resistance in S. davawensis. The tighter binding of products is also reflected by the results of inhibition experiments, in which RoF and SAH behave as competitive inhibitors for AF and SAM, respectively. We also showed that formation of a ternary complex of RosA, RoF and SAH (or SAM) leads to drastic spectral changes that are indicative of a hydrophobic environment.

Database

Structural data are available in the Protein Data Bank under accession number 4D7K.
General time‐dependent C(t) and J(t) estimation equations for elastic‐plastic‐creep fracture mechanics analysis
Authors: Lee H.‐S. , Je J.‐H. , Kim Y.‐J. , Ainsworth R. A. , Budden P. J.
Published: February 2016

This paper presents equations for estimating the crack tip characterizing parameters C(t) and J(t), for general elastic‐plastic‐creep conditions where the power‐law creep and plasticity stress exponents differ, by modifying the plasticity correction term in published equations. The plasticity correction term in the newly proposed equations is given in terms of the initial elastic‐plastic and steady‐state creep stress fields. The predicted C(t) and J(t) results are validated by comparison with systematic elastic‐plastic‐creep FE results. Good agreement with the FE results is found.
Contributions of airborne dispersal and dormant propagule recruitment to the assembly of rotifer and crustacean zooplankton communities in temporary ponds
Authors: Lopes Paloma M. , Bozelli Reinaldo , Bini Luis M. , Santangelo Jayme M. , Declerck Steven A. J.
Published: February 2016

Metacommunity theory assumes that communities are not only affected by local processes but also interact with each other through dispersal. It is generally assumed that zooplankton can quickly recolonise water bodies after droughts, via both dormant egg banks and dispersal of resting eggs. Hitherto, few studies have evaluated the relative importance of resting egg bank recruitment and airborne dispersal in the re‐establishment of zooplankton communities.

As zooplankton communities of temporary ponds are frequently confronted by dry phases and have the potential to build up large resting egg banks, we expected the contribution of such resting egg bank to be more important than airborne dispersal for community re‐establishment after drought. We also expected that the relative importance of airborne dispersal would be higher for rotifers than for microcrustaceans, as the former group has key traits (e.g. smaller body sizes, shorter generation times and higher reproductive potential) that are thought to enhance the dispersal to and colonisation of vacant habitat.

We performed an enclosure experiment in the vicinity of seven temporary ponds, simulating the colonisation by zooplankton exclusively via the resting egg bank, exclusively via airborne dispersal and via both pathways simultaneously. The enclosures were sampled five times during a period of 53 days.

Our results show that zooplankton organisms were able to rapidly colonise the experimental enclosures, either through their resting egg bank or by airborne dispersal of resting eggs. However, microcrustaceans tended to rely more on recolonisation from the resting egg banks than rotifers, at least for the spatial and temporal scales considered in our study.
The genetics of neuroticism and human values
Authors: Zacharopoulos George , Lancaster Thomas M. , Maio Gregory R. , Linden David E. J.
Published: February 2016

Human values and personality have been shown to share genetic variance in twin studies. However, there is a lack of evidence about the genetic components of this association. This study examined the interplay between genes, values and personality in the case of neuroticism, because polygenic scores were available for this personality trait. First, we replicated prior evidence of a positive association between the polygenic neuroticism score (PNS) and neuroticism. Second, we found that the PNS was significantly associated with the whole human value space in a sinusoidal waveform that was consistent with Schwartz's circular model of human values. These results suggest that it is useful to consider human values in the analyses of genetic contributions to personality traits. They also pave the way for an investigation of the biological mechanisms contributing to human value orientations.
Variations in soil carbon sequestration and their determinants along a precipitation gradient in seasonally dry tropical forest ecosystems
Authors: Campo Julio , Merino Agustín
Published: February 2016

The effect of precipitation regime on the C cycle of tropical forests is poorly understood, despite the existence of models that suggest a drier climate may substantially alter the source‐sink function of these ecosystems. Along a precipitation regime gradient containing 12 mature seasonally dry tropical forests growing under otherwise similar conditions (similar annual temperature, rainfall seasonality, and geological substrate), we analyzed the influence of variation in annual precipitation (1240 to 642 mm) and duration of seasonal drought on soil C. We investigated litterfall, decomposition in the forest floor, and C storage in the mineral soil, and analyzed the dependence of these processes and pools on precipitation. Litterfall decreased slightly – about 10% – from stands with 1240 mm yr−1to those with 642 mm yr−1, while the decomposition decreased by 56%. Reduced precipitation strongly affected C storage and basal respiration in the mineral soil. Higher soil C storage at the drier sites was also related to the higher chemical recalcitrance of litter (fine roots and forest floor) and the presence of charcoal across sites, suggesting an important indirect influence of climate on C sequestration. Basal respiration was controlled by the amount of recalcitrant organic matter in the mineral soil. We conclude that in these forest ecosystems, the long‐term consequences of decreased precipitation would be an increase in organic layer and mineral soil C storage, mainly due to lower decomposition and higher chemical recalcitrance of organic matter, resulting from changes in litter composition and, likely also, wildfire patterns. This could turn these seasonally dry tropical forests into significant soil C sinks under the predicted longer drought periods if primary productivity is maintained.
The permafrost carbon inventory on the Tibetan Plateau: a new evaluation using deep sediment cores
Authors: Ding Jinzhi , Li Fei , Yang Guibiao , Chen Leiyi , Zhang Beibei , Liu Li , Fang Kai , Qin Shuqi , Chen Yongliang , Peng Yunfeng , Ji Chengjun , He Honglin , Smith Pete , Yang Yuanhe
Published: February 2016

The permafrost organic carbon (OC) stock is of global significance because of its large pool size and the potential positive feedback to climate warming. However, due to the lack of systematic field observations and appropriate upscaling methodologies, substantial uncertainties exist in the permafrost OC budget, which limits our understanding of the fate of frozen carbon in a warming world. In particular, the lack of comprehensive estimates of OC stocks across alpine permafrost means that current knowledge on this issue remains incomplete. Here, we evaluated the pool size and spatial variations of permafrost OC stock to 3 m depth on the Tibetan Plateau by combining systematic measurements from a substantial number of pedons (i.e. 342 three‐metre‐deep cores and 177 50‐cm‐deep pits) with a machine learning technique (i.e. support vector machine, SVM). We also quantified uncertainties in permafrost carbon budget by conducting Monte Carlo simulations. Our results revealed that the combination of systematic measurements with the SVM model allowed spatially explicit estimates to be made. The OC density (OC amount per unit area, OCD) exhibited a decreasing trend from the south‐eastern to the north‐western plateau, with the exception that OCD in the swamp meadow was substantially higher than that in surrounding regions. Our results also demonstrated that Tibetan permafrost stored a large amount of OC in the top 3 m, with the median OC pool size being 15.31 Pg C (interquartile range: 13.03–17.77 Pg C). 44% of OC occurred in deep layers (i.e. 100–300 cm), close to the proportion observed across the northern circumpolar permafrost region. The large carbon pool size together with significant permafrost thawing suggests a risk of carbon emissions and positive climate feedback across the Tibetan alpine permafrost region.
Fassbinder's Female Complaint: Martha (1974) and the 1940s “Woman's Film”
Authors: Hennessy Mary
Published: February 2016

This paper considers Rainer Werner Fassbinder's 1974 melodrama Martha in a transnational, comparative framework, focusing on the film's relationship to the Hollywood “woman's film” of the 1940s and 1950s. Such an approach illustrates the ways in which Martha both draws on and pushes against the narrative strategies, tropes, and images of Hollywood and of women's culture. In doing so, I argue, Fassbinder takes to a narrative and aesthetic extreme what Lauren Berlant calls the “female complaint”—that cultural constellation in which “women live for love, and love is the gift that keeps on taking.” Viewed both transnationally and as a product of Fassbinder's Germany, a film like Martha pushes against Berlant's theory of the American woman's film and of the female complaint as modes by which women manage their intimate lives under conditions of patriarchy. In addition to engaging with Berlant's work, my analysis of Fassbinder's film and its performance of gender consequently draws not only on theories of melodrama and the American woman's film, but also on Bertolt Brecht's writing on Gestus. Fassbinder, I ultimately show, estranges the Hollywood woman's film in Martha. Harnessing the affective and emotional excess of the woman's film as Brechtian distanciation, exaggerating social gesture, and playfully appropriating Sirkian aesthetics, Martha offers a spectacular critique of the masochism inherent in gender roles under patriarchy.
TDP‐43 binds and transports G‐quadruplex‐containing mRNAs into neurites for local translation
Authors: Ishiguro Akira , Kimura Nobuyuki , Watanabe Yuto , Watanabe Sumiko , Ishihama Akira
Published: February 2016

Growth and differentiation of the neurites depends on long‐distance transport of a specific set of mRNAs to restricted area and their local translation. Here, we found that a TAR DNA‐binding protein of 43 kDa in size (TDP‐43) plays an essential role in intracellular transport of mRNA. For identification of target RNAs recognized by TDP‐43, we purified TDP‐43 in soluble dimer form and subjected to in vitro systematic evolution of ligands by exponential enrichment (SELEX) screening. All the TDP‐43‐bound RNAs were found to contain G‐quadruplex (G4). Using a double‐fluorescent probe system, G4‐containing RNAs were found to be transported, together with TDP‐43, into the distal neurites. Two lines of evidence indicated that loss of function of TDP‐43 results in the neurodegenerative disorder: (i) amyotrophic lateral sclerosis (ALS)‐linked mutant TDP‐43M337V lacks the activity of binding and transport of G4‐containing mRNAs; and (ii) RNA containing G4‐forming GGGGCC repeat expansion from the ALS‐linked C9orf72 gene absorbs TDP‐43, thereby reducing the intracellular pool of functional TDP‐43. Taken together, we propose that TDP‐43 within neurons plays an essential role of mRNA transport into distal neurites for local translation, and thus, dysfunctions of TDP‐43 cause neural diseases such as ALS and frontotemporal lobar degeneration.
Characterization of five associations of F8 missense mutations containing FVIII B domain mutations
Authors: Jourdy Y. , Nougier C. , Roualdes O. , Fretigny M. , Durand B. , Negrier C. , Vinciguerra C.
Published: February 2016

Introduction

Haemophilia A (HA) is a bleeding disorder due to an absence or a reduced activity of coagulation factor VIII (FVIII) caused by mutations in F8 gene. Missense mutations represent approximately 45% of the reported molecular defects in HA. However, only few missense mutations in FVIII B domain have been described.

Aim

The aim of this study was to characterize five genetic variations (three novels and two previously reported) localized in the FVIII B domain. In all cases, an additional missense variation located outside the FVIII B domain was found. We investigated each of these variations separately and in combination too for their contribution to HA phenotype.

Methods

F8 variants were transiently expressed in COS‐1 cells. Media and cell lysates were collected after 72 h. Then, FVIII activity, secretion and thermostability were analysed and compared to FVIII wild‐type.

Results

The 5 FVIII B domain variants showed normal FVIII:C (98.5–128.5%) and FVIII:Ag (97.7–154%). No synergistic effect was observed between the B domain variant and their associated mutations. In contrast, the variants located outside the B domain, p.V682L, p.S714L, p.V592D and p.C573F revealed significantly decrease of FVIII:C with values in the range 3.5–44.5% (p < 0.05). However, the p.G224R variant showed FVIII:C and FVIII:Ag values no significantly different from FVIII‐WT.

Conclusion

The FVIII B domain variants, p.D963N, p.S806T, p.G873D, p.H998Q and p.Q1225R may be considered as polymorphism or non‐pathologic mutations. In five patients, clinical phenotype could be explained by the additional causative missense mutation. For the p.G224T variant further splicing studies are necessary to determine its pathogenicity.
Germ cell neoplasia in situ (GCNIS): evolution of the current nomenclature for testicular pre‐invasive germ cell malignancy
Authors: Berney Daniel M , Looijenga Leendert H J , Idrees Muhammad , Oosterhuis J Wolter , Rajpert‐De Meyts Ewa , Ulbright Thomas M , Skakkebaek Niels E
Published: February 2016

The pre‐invasive lesion associated with post‐pubertal malignant germ cell tumours of the testis was first recognized in the early 1970s and confirmed by a number of observational and follow‐up studies. Until this year, this scientific story has been confused by resistance to the entity and disagreement on its name. Initially termed ‘carcinoma in situ’ (CIS), it has also been known as ‘intratubular germ cell neoplasia, unclassified’ (IGCNU) and ‘testicular intraepithelial neoplasia’ (TIN). In this paper, we review the history of discovery and controversy concerning these names and introduce the reasoning for uniting behind a new name, endorsed unanimously at the World Health Organization (WHO) consensus classification 2016: germ cell neoplasia in situ (GCNIS).
Short‐distance attraction of saproxylic Heteroptera to olfactory cues
Authors: Koban Marcel B. , Gossner Martin M. , Müller Jörg , Steidle Johannes L. M. , Bässler Claus , Hothorn Torsten , Unsicker Sybille B. , Seibold Sebastian
Published: February 2016

As dead wood is ephemeral, saproxylic insect species must be able to effectively locate new resources via, e.g. olfactory cues.

Although saproxylic flat bugs feed on fungal mycelia, published evidence points to their use of dead wood‐specific volatile cues rather than fungal‐specific cues for long‐distance orientation towards new habitat patches.

To evaluate which olfactory cues saproxylic flat bugs use for short‐distance orientation, we tested the attraction of Aradus obtectus (Vasarhelyi) to fresh wood, fungal mycelia and fungal fruiting bodies using an olfactometer.

Aradus obtectus individuals were attracted only to fungal mycelia but not to wood or fungal fruiting bodies.

Our results and those of our earlier field experiment testing long‐distance attraction (Seibold et al., ) together suggest that A. obtectus uses cues emitted by dead wood to locate potential resources over long distances, but relies on olfactory cues emitted by mycelia of its host species to locate suitable short‐range microhabitats.