bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
Authors: Mizukami Yukari , Hayashi Ryota , Tsuruta Daisuke , Shimomura Yutaka , Sugawara Koji 
Published: February 2018

AbstractAutosomal recessive woolly hair is a relatively rare hereditary hair disorder characterized by sparse, short, curly hair. This condition is known to be caused by mutations in the LIPH gene, LPAR6 gene or KRT25 gene. In the Japanese population, most patients with autosomal recessive woolly hair carry one of two founder mutations in the LIPH gene, c.736T>A (p.Cys246Ser) or c.742C>A (p.His248Asn). However, occasionally, individuals with this condition carry compound heterozygous mutations, typically one founder mutation and another mutation. In this study, we describe a patient with a compound heterozygous mutation in the LIPH gene at c.736T>A and c.1095‐3C>G. The latter mutation created a novel splice site. This was the fourth splice site mutation to be described in the LIPH gene. Furthermore, we performed an in vitro transcription assay in cultured cells, and demonstrated that the c.1095‐3C>G mutation led to a frame‐shift, which created a premature termination codon at the protein level (p.Glu366Ilefs*7). Finally, we summarized the mutations previously reported for the LIPH gene. Our findings provide further clues as to the molecular basis of autosomal recessive woolly hair.
Energetic fitness: Field metabolic rates assessed via 3D accelerometry complement conventional fitness metrics
Authors: Grémillet David , Lescroël Amélie , Ballard Grant , Dugger Katie M. , Massaro Melanie , Porzig Elizabeth L. , Ainley David G. 
Published: February 2018

AbstractEvaluating the fitness of organisms is an essential step towards understanding their responses to environmental change. Connections between energy expenditure and fitness have been postulated for nearly a century. However, testing this premise among wild animals is constrained by difficulties in measuring energy expenditure while simultaneously monitoring conventional fitness metrics such as survival and reproductive output.We addressed this issue by exploring the functional links between field metabolic rate (FMR), body condition, sex, age and reproductive performance in a wild population.We deployed 3D accelerometers on 115 Adélie penguinsPygoscelis adeliaeduring four breeding seasons at one of the largest colonies of this species, Cape Crozier, on Ross Island, Antarctica. The demography of this population has been studied for the past 18 years. From accelerometry recordings, collected for birds of known age and breeding history, we determined the vector of the dynamic body acceleration (VeDBA) and used it as a proxy forFMR.This allowed us to demonstrate relationships amongFMR, a breeding quality index (BQI) and body condition. Notably, we found a significant quadratic relationship between mean VeDBAduring foraging andBQIfor experienced breeders, and individuals in better body condition showed lower rates of energy expenditure.We conclude that usingFMRas a fitness component complementary to more conventional fitness metrics will yield greater understanding of evolutionary and conservation physiology.Aplain language summaryis available for this article.
Family of origin experiences on relationship satisfaction: a mediation model
Authors: Chen Ruoxi , Busby Dean M. 
Published: February 2018

AbstractThis study tested a mediation model of the intergenerational transmission process of the relationship satisfaction of four ethnic groups in the US: Whites, Blacks, Latinos, and Asians. The influence of past relationships is a positive mediator of the effect of family of origin on relationship satisfaction for all four groups, and low neuroticism is a positive mediator of this effect for Whites, Blacks, and Latinos, but not Asians. The effect of family of origin experiences on relationship satisfaction and the effects of the two mediators vary in ways that could be attributed to cultural differences between the four groups. This mediation model offers plausible explanations of the mechanisms governing the intergenerational transmission of relationship satisfaction and, in particular, elevates the significance of past relationships' influence in this process. The findings are discussed with a focus on cultural differences and implications for relationship education and clinical practice.Practitioner points

FoO experiences affect one's current relationship satisfaction through past relationships' influence and neuroticism

Resolving past relationship issues may reduce the negative effect of FoO experiences

Helping individuals reduce their neuroticism may enhance therapeutic approaches applying an FoO lens to current relationships

Therapy should pay attention to differences in the intergenerational transmission process of relationship experiences according to ethnic group
Resisting the 'Long‐Arm' of the State? Spheres of Capture and Opportunities for Autonomy in Community Governance
Authors: O’Hare Paul 
Published: February 2018

AbstractEfforts to promote community empowerment within regeneration management have been persistently critiqued. Particular concern regards the potential capture of civic organizations into the sphere of influence of more powerful governance stakeholders, leaving communities marginalized and frustrated. Although such ‘capture’ is a discernible threat, this article presents a more nuanced perspective demonstrating the scope for community‐based organizations to dissent from seemingly inexorable regimes of power. The article details a series of tensions that emerged across the evolution of a community‐led regeneration partnership. It then outlines how civil society organizations challenge ‘partnership orthodoxies’, seeking autonomy albeit nested within—and relative to—formal bureaucratic and administrative regimes. Community partners can therefore assume a hybridity of capture and autonomy—or a mutuality—that is rarely acknowledged by accounts that critique regeneration governance.
Fair chances and hard work? Families making sense of inequality and opportunity in 21st‐century Britain
Authors: Snee Helene , Devine Fiona 
Published: February 2018

AbstractIn British social mobility discourse, the rhetoric of fair access can obscure wider issues of social justice. While socio‐economic inequalities continue to shape young people's lives, sociological work on class dis‐identification suggests social class is less obviously meaningful as a source of individual and collective identity. This paper considers subjective understandings of the post‐16 education and employment landscape in this context, drawing on qualitative research exploring the aspirations of young men and women as they completed compulsory education in north‐west England, and the hopes their parents had for their future. It shows how unequal access to resources shaped the older generation's expectations for their children, although this was rarely articulated using the explicit language of class. Their children recognized they faced a difficult job market but embraced the idea that success was possible through hard work. Both generations drew moral boundaries and made judgments based on implicit classed discourses about undeserving others, while at the same time disavowing class identities. There was a more explicit recognition of gender inequality among the parents framed with reference to hopes for greater freedom for their daughters. Opportunities and inequalities were thus understood in complex and sometimes contradictory ways.
The role of NFκB in the three stages of pregnancy – implantation, maintenance, and labour: a review article
Authors: Sakowicz A 
Published: February 2018

The transcription factor nuclear factor kappa B (NFκB) controls the expression of over 400 genes, some of which are associated with reproductive events. During implantation, immune cells accumulate in the maternal–fetal interface; they secrete inflammatory mediators under the control of NFĸB, the level of which also rises. NFĸB is then downregulated to maintain gestation, but its level rises again before birth to manage prostaglandin, cytokine, and chemokine synthesis, and to stimulate uterine contraction. This review summarises the current state of knowledge about NFκB and its role in the molecular regulation of processes related to pregnancy development.Tweetable abstractThis review examines the current state of knowledge about role of NFκB in the development of pregnancy.
A Case of Self‐Enucleation in an Incarcerated Patient: Case Report and Review of Literature
Authors: Davis Lauren E. , Tripathi Samidha 
Published: February 2018

AbstractSelf‐enucleation is a severe form of self‐injurious behavior which presents as an ophthalmologic and psychiatric emergency. It is usually known to occur with untreated psychosis, however, there have been reports of self‐enucleation across various psychopathologies. We review a case documenting self‐enucleation in the forensic setting in a patient with an unusual presentation and cluster of psychotic symptoms. Literature was reviewed using PubMed/Medline databases with key terms: “forensic science,” “forensic psychiatry,” “auto‐enucleation,” “self‐enucleation,” “Oedipism,” “self‐harm.” This case is unique as it offers an alternative presentation to those most commonly depicted in current literature, helps highlight the sparsity of literature depicting self‐enucleation in the forensic setting, and stimulates discussion around various potential differential diagnoses, management strategies and complications of self‐enucleation within the forensic setting. It is prudent to emphasize need for aggressive and collaborative treatment for the forensic population regardless of psychopathology, presentation, or propensity for secondary gain.
Head‐to‐head comparison of the heart rate variability between the bisoprolol transdermal patch and bisoprolol fumarate tablet
Authors: Sairaku Akinori , Nakano Yukiko , Shiode Nobuo , Suenari Kazuyoshi , Oda Nozomu , Ono Koichi , Kihara Yasuki 
Published: February 2018

SummaryAimThe bisoprolol transdermal patch is a newly developed β‐blocker designed to deliver its pharmaceutical ingredient through the skin surface. We aimed to compare the bisoprolol transdermal patch and bisoprolol fumarate tablet using the heart rate variability (HRV).MethodEligible hypertensive patients received a 2‐week administration with a 2.5 mg bisoprolol fumarate tablet, followed by 24‐hour Holter monitoring. The tablet was then switched to a 4 mg bisoprolol transdermal patch, and after 2 weeks of its administration, the Holter monitoring was repeated. Both drugs were given once daily. Endpoint was any alteration in the HRV caused by a change in the administration route for bisoprolol.ResultsThere was no difference in the 24‐hour time‐domain and frequency‐domain HRV measurements before and after the drug switching among patients recruited (N = 30). However, the switching significantly altered the time‐course curves of the hourly HRV measurements, including the mean normal‐to‐normal (NN) interval (P = .004), standard deviation of the NN index (P < .001), high frequency component (P = .01), and low frequency component (P = .003). Those alternations were attributed to the slower heart rate and more decreased short‐term autonomic fluctuation resulting from the administration of the bisoprolol transdermal patch, which were observed later than 12 hours after the drug initiation. No adverse events were noted throughout the study period.ConclusionThe pattern of the autonomic modulation may vary depending on either a transdermal or oral administration even though an equivalent dose of bisoprolol is given.
Growth yield and selection of nosZ clade II types in a continuous enrichment culture of N2O respiring bacteria
Authors: Conthe Monica , Wittorf Lea , Kuenen J. Gijs , Kleerebezem Robbert , Hallin Sara , van Loosdrecht Mark C.M. 
Published: February 2018

SummaryNitrous oxide (N2O) reducing microorganisms may be key in the mitigation of N2O emissions from managed ecosystems. However, there is still no clear understanding of the physiological and bioenergetic implications of microorganisms possessing either of the two N2O reductase genes (nosZ), clade I and the more recently described clade II type nosZ. It has been suggested that organisms with nosZ clade II have higher growth yields and a lower affinity constant (Ks) for N2O. We compared N2O reducing communities with different nosZI/nosZII ratios selected in chemostat enrichment cultures, inoculated with activated sludge, fed with N2O as a sole electron acceptor and growth limiting factor and acetate as electron donor. From the sequencing of the 16S rRNA gene, FISH and quantitative PCR of nosZ and nir genes, we concluded that betaproteobacterial denitrifying organisms dominated the enrichments with members within the family Rhodocyclaceae being highly abundant. When comparing cultures with different nosZI/nosZII ratios, we did not find support for (i) a more energy conserving N2O respiration pathway in nosZ clade II systems, as reflected in the growth yield per mole of substrate, or (ii) a higher affinity for N2O, defined by μmax/Ks, in organisms with nosZ clade II.
Light and scanning electron microscopy of the olfactory mucosa in the rufous sengi (Elephantulus rufescens)
Authors: Kavoi B. M. 
Published: February 2018

SummarySengis are eutherian insectivores belonging to superorder Afrotheria, a recently defined clade of mammals that diverged from other placentals over 100 million years ago. In this study, a histological and ultrastructural analysis was carried out on the olfactory mucosa (OM) of the rufous sengi (Elephantulus rufescens) and the data were compared with those reported earlier in the dog (Canis familiaris) and the sheep (Ovis aries), whose dietary lifestyles are carnivorous and herbivorous, respectively. Qualitatively, the microstructure of the sengi's OM was basically similar to that of the other eutherian mammals except for differences in the pattern of cilia projection from the dendritic knobs of the olfactory receptor neurons (ORNs) and distribution of Bowman's glands within the lamina propria of the OM. On morphometry, significant differences (p < .05) were recorded with respect to olfactory epithelial (OE) thickness between the sengi (65.4 ± 2.6 μm) and the other species. ORN packing density and cilia number/ORN knob varied markedly only between the sengi (73.8 ± 5.4 mm−2 × 103 and 15 ± 4, respectively) and the sheep. No remarkable differences were noted in regard to ORN bundle diameters between sengis (62.7 ± 12.5 μm) and the other species. The observed differences in OM structural refinement may be attributed to olfactory function demand levels related to feeding lifestyles and ecology. Myrmecophagous insectivory, social monogamy, absentee maternal care and exposed sheltering habits are behavioural features that may warrant substantial OM modification in sengis.
Population ecology of the giant forest hog, Hylochoerus meinertzhageni in Chebera Churchura National Park, Ethiopia
Authors: Mekonnen Aemro , Bekele Afework , Balakrishnan Mundanthra 
Published: February 2018

AbstractPopulation, feeding habit, distribution and activity patterns of the giant forest hog (Hylochoerus meinertzhageni) were studied in Chebera Churchura National Park (CCNP), Ethiopia, using line transect sample counts. Population estimate of the hogs was 845 individuals. Among the counted individuals, 42.4% were males and 57.6% were females. Among them, 32.8% were adults, 26.9% were subadults, and 40.3% were piglets. Large sounders of up to 20 individuals were seen during the wet season. They were seen in all habitat types in CCNP with higher abundance in the riverine vegetation. Availability of food, green vegetation cover and water were factors governing distribution of forest hogs in the study area. Grass was the major food item of the hogs (90%), mainly of Panicum sp., Acalypha psilostachya, Cissapelos rigidifolia, Psilotrichum gnaphalobryum and Abutilon ceclii. Feeding was the major activity for which 49.7% of the active daytime was used. Resting (lying down, standing and wallowing) was the next major activity, for which they spent 38.8% of the daytime, followed by other activities (11.5%). Morning and late afternoon activity peaks were more intensive during the dry season. This female‐biased giant forest hog population is expected to sustain in CCNP.
ATP‐binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461‐10T>C cause Stargardt disease due to defective splicing
Authors: Jonsson Frida , Westin Ida Maria , Österman Lennart , Sandgren Ola , Burstedt Marie , Holmberg Monica , Golovleva Irina 
Published: February 2018

AbstractPurposeInherited retinal dystrophies (IRDs) represent a group of progressive conditions affecting the retina. There is a great genetic heterogeneity causing IRDs, and to date, more than 260 genes are associated with IRDs. Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP‐binding cassette subfamily A, member 4 (ABCA4) gene. A large number of intronic sequence variants in ABCA4 have been considered pathogenic although their functional effect was seldom demonstrated. In this study, we aimed to reveal how intronic variants present in patients with Stargardt from the same Swedish family affect splicing.MethodsThe splicing of the ABCA4 gene was studied in human embryonic kidney cells, HEK293T, and in human retinal pigment epithelium cells, ARPE‐19, using a minigene system containing variants c.4773+3A>G and c.5461‐10T>C.ResultsWe showed that both ABCA4 variants, c.4773+3A>G and c.5461‐10T>C, cause aberrant splicing of the ABCA4 minigene resulting in exon skipping. We also demonstrated that splicing of ABCA4 has different outcomes depending on transfected cell type.ConclusionTwo intronic variants c.4773+3A>G and c.5461‐10T>C, both predicted to affect splicing, are indeed disease‐causing mutations due to skipping of exons 33, 34, 39 and 40 of ABCA4 gene. The experimental proof that ABCA4 mutations in STGD patients affect protein function is crucial for their inclusion to future clinical trials; therefore, functional testing of all ABCA4 intronic variants associated with Stargardt disease by minigene technology is desirable.
Children living in the slums of Bangladesh face risks from unsafe food and water and stunted growth is common
Authors: Mostafa Ishita , Naila Nurun Nahar , Mahfuz Mustafa , Roy Manoj , Faruque Abu S.G. , Ahmed Tahmeed 
Published: February 2018

AbstractAimThis study investigated the microbial quality of food and water consumed by children in four slums in Dhaka, the capital of Bangladesh, together with the associated risk factors.MethodsThis cross‐sectional study took place from December 2015 to May 2016 and focused on 360 children under the age of five. We recorded household food security, namely adequate food for a healthy life, socio‐economic and nutritional status, hygiene and feeding practices. Food and water samples were analysed.ResultsWe found that 63% of the children were malnourished and 58% were stunted. Yeast and moulds were detected in 86% of the food samples and coliforms in 73%. All the water samples were contaminated with faecal coliforms, yeasts and moulds and Staphylococcus. Food insecurity affected 83% of households. Children were twice as likely to be malnourished if they were born with a perceived low birthweight or their mothers did not wash their hands with soap after cleaning the child's bottom following defecation. Exclusively breastfed children were less likely to develop malnutrition.ConclusionChildren from the Dhaka slums were frequently stunted and malnourished and contaminated food and water was common. Integrated efforts are essential to create public awareness about hygiene.
Effects of a rice diet and phytase addition on growth performance, tissue weights, phosphorus and nitrogen retention, and on liver threonine dehydrogenase, malic enzyme and fatty acid synthase activities in broiler chicks
Authors: Fujimoto Hiroya , Fujita Nozomi , Takada Ryozo 
Published: February 2018

AbstractThis experiment was conducted to clarify the nutritional functions of rice and phytase addition for broiler chicks. Thirty‐six 7‐day‐old male chicks (ROSS 308 strain) were assigned to one of the four treatment groups: corn‐ or rice‐based diet groups and each diet with added phytase (2000 phytase units/kg diet) groups (corn + P or rice + P groups). The non‐phytate phosphorus (npP) content in the diets with added phytase was approximately half of the requirement. Body weight gain and feed intake in the rice group was significantly higher than those in the corn group. Breast and thigh muscle weights and nitrogen retention in the rice group were significantly higher than that in the corn group. Although the efficiency of phosphorus retention (%) in the corn + P group was significantly higher than that in the corn group, no significant difference was observed between the rice and rice + P groups. Liver threonine dehydrogenase activity in the corn group was significantly higher than in the other three groups. These results indicate that rice is superior to corn as a starter diet in broiler chicks, and that phytase action in the rice‐based diet was less than that in the corn‐based diet.
Seed density is more effective than multi‐trait limiting similarity in controlling grassland resistance against plant invasions in mesocosms
Authors: Yannelli Florencia A. , Karrer Gerhard , Hall Rea , Kollmann Johannes , Heger Tina 
Published: February 2018

AbstractQuestionDisturbed areas offer great opportunities for restoring native biodiversity, but they are also prone to invasion by alien plants. Following the limiting similarity hypothesis, we address the question of whether or not similarity of plant functional traits helps developing seed mixtures of native communities with high resistance to invasive species at an early stage of restoration.LocationCentre of Greenhouses and Laboratories Dürnast, Technische Universität München, Freising, Germany.MethodsUsing a system of linear equations, we designed native communities maximizing the similarity between the native and two invasive species according to ten functional traits. We used native grassland plants, two invasive alien species that are often problematic in disturbed areas (i.e., Ambrosia artemisiifolia and Solidago gigantea) and trait information obtained from databases. The two communities were then tested for resistance against establishment of the two invaders separately in a greenhouse experiment. We measured height of the invasive species and above‐ground biomass, along with leaf area index, 4 and 8 months after sowing respectively.ResultsBoth invasive species were successfully reduced by the native community designed to suppress S. gigantea dominated by small‐seeded species. These results could be considered as partial support for the limiting similarity hypothesis. However, given the success of this mixture against both invasive species, suppression was better explained by a seed density effect resulting from the smaller seed mass of the native species included in this mixture. Further, the dominance of a fast‐developing competitive species could also contribute to its success.ConclusionsThere was no unequivocal support for the limiting similarity hypothesis in terms of the traits selected. Instead we found that increasing seeding density of native species and selecting species with a fast vegetative development is an effective way to suppress invasive plants during early stages of restoration. If limiting similarity is used to design communities for restoration, early life‐history traits should be taken into account.