bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
Authors: Jafri Mariam , Whitworth James , Rattenberry Eleanor , Vialard Lindsey , Kilby Gail , Kumar Ajith V. , Izatt Louise , Lalloo Fiona , Brennan Paul , Cook Jackie , Morrison Patrick J. , Canham Natalie , Armstrong Ruth , Brewer Carole , Tomkins Susan , Donaldson Alan , Barwell Julian , Cole Trevor R. , Atkinson A. Brew , Aylwin Simon , Ball Steve G. , Srirangalingam Umasuthan , Chew Shern L. , Evans Dafydd Gareth R , Hodgson Shirley V. , Irving Richard , Woodward Emma , Macdonald Fiona , Maher Eamonn R. 
Published: October 2012

SummaryObjectivesResearch studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited predisposition, although the frequency of specific mutations can vary between populations. We evaluated VHL, SDHB and SDHD mutation testing in cohorts of patients with non‐syndromic PPGL and head and neck paraganglioma (HNPGL).DesignProspective, observational evaluation of NHS practice.PatientsIndividuals with PPGL/HNPGL referred to a supraregional genetics testing service over a 10‐year period.MeasurementsClinical (age, tumour site, malignancy, etc.), mutation frequencies and characteristics.ResultsA total of 501 probands with PPGL (n = 413) or HNPGL (n = 88) were studied. Thirty‐one percent of patients with PPGL presented had a pathogenic mutation in SDHB, SDHD or VHL. Mutation detection rates were highest in those with a positive family history (62%), malignancy (53%), multiple tumours (33%) or PGL (44%). Twenty‐eight percent of individuals with a single sporadic phaeochromocytoma had a mutation. Overall, 63% of patients with HNPGL had a mutation (92% of those with a family history, 89% of those with multicentric tumours and 34% of those with a single sporadic HNPGL). Penetrance was calculated in 121 SDHB mutation‐positive probands and 187 of their mutation‐positive relatives. Most relatives were asymptomatic and lifetime penetrance in non‐proband SDHB mutation carriers was <50%.ConclusionsPractice‐based evaluations of genetic testing in PPGL reveal high mutation detection rates. Although clinical criteria can be used to prioritize mutation testing, mutations were detected in ‘low risk groups’ indicating a need for comprehensive and inexpensive genetic testing strategies for PPGL and HNPGL.
Addressing common forms of child maltreatment: evidence‐informed interventions and gaps in current knowledge
Authors: Pecora Peter J. , Sanders David , Wilson Dee , English Diana , Puckett Alan , Rudlang‐Perman Kristen 
Published: October 2012

AbstractThis paper reviews interventions for preventing the occurrence and recurrence of major types of child maltreatment. We begin with an overview of the challenges of establishing evidence‐based interventions to prevent child abuse and neglect in many countries, and underscore the importance of this need with child maltreatment incidence rates in the USA, and how much each type and subtype contribute to child out‐of‐home placement. Next, we identify the well‐supported, supported and promising interventions for each child maltreatment type and subtype, according to their level of research evidence using an evidence‐based clearing house. The paper closes with a discussion of the implications for practice, evaluation, policy and agency management, including intervention knowledge gaps that showcase areas that need additional practice research.
In vitro bone strain analysis of implant following occlusal overload
Authors: Kan Janice P.M. , Judge Roy B. , Palamara Joseph E.A. 
Published: October 2012

AbstractObjectivesTo enumerate peri‐implant bone strain pattern under quantified occlusal load and verify the bone response through comparison with the critical strain thresholds defined by Frost's bone mechanostat theory.Material and MethodsMandibular unilateral recipient sites in two greyhound dogs were established with posterior teeth extractions. After 6 weeks, four titanium implants were placed in each dog mandible. Following 12 weeks of healing, successfully osseointegrated implants were placed in supra‐occlusal contact via screw‐retained non‐splinted metal crowns. Plaque control and a dental health enhancing diet were prescribed. A bite force detection device was used to quantify in vivo occlusal load as the dogs functioned with supra‐occlusal contact. After 8 weeks, the dogs were sacrificed. In vitro peri‐implant bone strain under quantified occlusal load was measured using bonded stacked rosette strain gauges.ResultsThe average and peak in vivo occlusal load measured were 434 and 795 newton (N). When individually and simultaneously loaded in vitro (≤476 N), absolute bone strains up to 1133 and 753 microstrains (με) were measured at implant apices, respectively. Bone strain reaching 229 με was recorded at distant sites. For bone strain to reach the pathological overload threshold defined by Frost's bone mechanostat theory (3000 με), an occlusal load of 1344 N (greater than peak measured in vivo) is required based on the simple linear regression model.ConclusionUnder the in vivo and in vitro conditions investigated in this study, peri‐implant bone was not found to be under pathological overload following supra‐occlusal contact function. Strain dissipation to distant sites appeared to be an effective mechanism by which implant overload was avoided.
Ligation of the intersphincteric fistula tract plus a bioprosthetic anal fistula plug (LIFT‐Plug): a new technique for fistula‐in‐ano
Authors: Han J. G. , Yi B. Q. , Wang Z. J. , Zheng Y. , Cui J. J. , Yu X. Q. , Zhao B. C. , Yang X. Q. 
Published: October 2012

AbstractAimLigation of the intersphincteric fistula tract and reinforcement with a bioprosthetic graft are two recently reported procedures that have shown promise in the treatment of anal fistula. This study was undertaken to validate combining ligation of the intersphincteric fistula tract plus bioprosthetic anal fistula plug and report our preliminary results and experience.MethodTwenty‐one patients with transsphincteric anal fistula were treated with ligation of the intersphincteric fistula tract plus concurrent bioprosthetic plug of the anal fistula. We evaluated healing time, fistula closure rate and postoperative anal function according to the Wexner continence score.ResultsNo mortality or major complications were observed. Median operative time was 20 (range 15–40) min. After a median follow‐up of 14 (range 12–15) months, the overall success rate was 95% (20/21), with a median healing time of 2 (range 2–3) weeks for external anal fistula opening and 4 (range 3–7) weeks for intersphincteric groove incision. Only 1 (5%) patient reported rare incontinence for gas postoperatively (Wexner score 1).ConclusionsLigation of the intersphincteric fistula tract plus a bioprosthetic anal fistula plug is an easy, safe, effective and useful alternative in the management of anal fistula. Further randomized controlled studies are necessary to better evaluate long‐term results.
Impact of diagnostic criteria on the prevalence of COPD
Authors: Çolak Yunus , Løkke Anders , Marott Jacob Louis , Lange Peter , Vestbo Jørgen 
Published: October 2012

AbstractIntroductionThe reduction in the ratio between forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) is used for the diagnosis of chronic obstructive pulmonary disease (COPD). The choice between a simple fixed cut‐off ratio (FEV1/FVC <0.70) and the use of lower limit of normal (LLN) is eagerly discussed. The aim of this paper was to examine the impact of these two diagnostic measures on the prevalence of COPD using data from the fourth examination of The Copenhagen City Heart Study (CCHS4).Materials and MethodologyA total of 6237 subjects participated in CCHS4 from 2001 to 2003. Asymptomatic, healthy never‐smokers of all ages with adequate information from questionnaires and spirometry were used to calculate LLN.ResultsLLN was declining with increasing age and height. If LLN was used as the correct diagnostic criterion, under‐ and over‐diagnosis among men were 0.4% and 7.0%, respectively, and for women 2.0% and 1.4%, respectively, when using the fixed ratio. Over‐diagnosis among men was reduced from 7.0% to 3.0% by changing the fixed cut‐off ratio to FEV1/FVC <0.65 for subjects older than 65 years. Among women, however, this adjustment led to an increase in under‐diagnosis from 2.0% to 5.7%. Most participants with FEV1/FVC <0.70 but >LLN had well‐preserved FEV1.ConclusionUsing the fixed ratio for diagnosing COPD in an epidemiological setting results in a higher prevalence than if the LLN is used. Time seems ripe for studying if the same is seen when diagnosing COPD in the clinical setting.
Prevalence and treatment demand after traumatic dental injury in South Brazilian schoolchildren
Authors: Schuch Helena Silveira , Goettems Marília Leão , Correa Marcos Britto , Torriani Dione Dias , Demarco Flávio Fernando 
Published: October 2012

AbstractBackgroundEvaluation of the frequency and need for treatment of dental trauma is critical for both planning and establishing dental services and preventive programs.AimThis cross‐sectional study evaluated the prevalence of dental trauma, need for treatment and factors associated with dental visits after an injury.Subjects and MethodsA multistage sample of children aged 8–12 years, from 20 private and public schools in Pelotas/Southern Brazil, was considered. Socioeconomic information was collected from parents, and data regarding traumatic events were obtained from the children. Clinical examinations were conducted using validated criteria. Descriptive analysis and logistic regression were used to assess the factors associated with search for treatment after injury.ResultsA total of 1210 children were included, 153 (12.6%, 95% CI 10.8–14.6) of whom suffered dental trauma, with a total of 175 traumatized teeth. The most frequently observed type of injury was enamel fracture, affecting 129 (73.7%) teeth, of which 107 did not require restorative treatment. A total of 68 (38.8%) teeth required care, of which 24 (13.7%) received treatment. Of the children who recalled the trauma, 39 (36.5%) sought treatment, which was significantly associated with both higher maternal education (OR 2.75; 95% CI 1.18–6.41) and trauma severity (OR 7.71; 95% CI 3.17–18.75).ConclusionsThe prevalence of traumatic injuries was relatively high in this population. Although most of the traumatized teeth did not require treatment, dental care was neglected, as most of the children were not taken to a dentist for evaluation. Also, there was a considerable demand for treatment, most of them of low complexity. Special attention should be given to children whose mothers have completed fewer years of education, as the mother's level of education was an important predictor of evaluation by a dentist after injury.
Parents' recognition of dental trauma in their children
Authors: Ramos‐Jorge Maria Letícia , Ramos‐Jorge Joana , Mota‐Veloso Isabella , Oliva Kelly Jorge , Zarzar Patrícia Maria , Marques Leandro Silva 
Published: October 2012

AbstractObjectivesThe aim of the present study was to assess parents' recognition of dental trauma in their children.MethodsA cross‐sectional study was conducted in Belo Horizonte, Brazil, with 519 randomly selected children between 1 and 3 years of age. The parents answered questions on the occurrence of previous dental trauma, caregiver's schooling and the impact of dental trauma on activities and quality of life of the children. The children were also clinically examined for presence of dental trauma. Descriptive analysis, the chi‐squared test, Mann–Whitney test and Poisson regression analysis were performed. The calculation of effect size was used to test the clinical significance of the findings.ResultsA total of 41.2% (n = 214) of the children had at least one tooth with dental trauma. Among the parents of the children with dental trauma, 42.5% (n = 91) had not recognized the trauma. Mean caregiver's schooling was 8.9 ± 3.3 years of study. The schooling of caregivers who were unaware of the dental trauma was lower (mean: 5.3 ± 2.5 years of study) than that of those who were aware of the trauma (10.4 ± 2.1 years of study; P < 0.001). The recognition of dental trauma was more prevalent among parents of children over 24 months of age (PR: 3.5; 95% CI: 2.2–5.6), those whose children experienced an impact of oral health status on quality of life (PR: 1.2; 95% CI: 1.1–1.4) and those with a higher level of schooling (PR: 1.2; 95% CI: 1.1–1.2).ConclusionA large portion of parents do not recognize the occurrence of dental trauma in their toddlers. The age of the child, impact of oral health status on quality of life and caregiver's schooling were directly associated with parents' recognition of dental trauma in children aged 12 to 36 months.
Conservation of root‐fractured primary teeth—report of a case
Authors: Liu Xin , Huang Jing , Bai Yudi , Wang Xiaojing , Baker Andrew , Chen Faming , Wu Li‐an 
Published: October 2012

AbstractA 3.5‐year‐old girl presented to our clinic experiencing pain in her maxillary central incisors following traumatic injury during a fall. Radiographic examination revealed both primary maxillary central incisors with mid‐root and apical third horizontal root fractures, respectively. Splinting with orthodontic brackets and stainless steel wire was performed. At 2 weeks, resorption of the apical fragments in both injured teeth was observed, and after 3 months, almost complete resorption was noted on radiographs. Tooth mobility at this point was back to physiologic levels and the splint was removed. After 2.5 years, the primary maxillary incisors were replaced by permanent incisors demonstrating normal tooth color, position, and root development. Although this case illustrated the favorable prognosis of two primary teeth with root fractures and severely mobile coronal fragments by a conservative approach, more scientific evidences are needed and frequent recalls are necessary when primary root fractures are attempted to be managed with splinting.
Population differentiation and temporal changes of carotenoid pigments and stable isotope ratios in the offspring of anadromous and non‐anadromous troutSalmo trutta
Authors: Briers Robert A. , Waterman James O. , Galt Kenneth , Campbell Ronald N. B. 
Published: October 2012

AbstractTrout (Salmo trutta) exhibit anadromous and non‐anadromous forms which are commonly sympatric. Offspring of the two forms can be separated by differences in characteristics such as stable isotope ratios and carotenoid pigments, which differ due to the influence of maternal resources. The rate of change in different characteristics due to freshwater feeding and the extent of differences between populations however remain unclear. Stable isotope (NandC) ratios and carotenoid pigment profiles were examined in the offspring of anadromous and non‐anadromous fish sampled at different times from six sites within the catchment of theRiverTweed,UK. Both techniques were able to separate newly emerged fry successfully, with carbon isotopes distinguishing the forms better than nitrogen isotopes and zeaxanthin being the primary carotenoid pigment used to distinguish the offspring of different migratory forms. By 4 months, stable isotope ratios of the two forms were still distinct although both carbon and nitrogen ratios needed to be considered to distinguish the forms. Zeaxanthin levels were more variable and overlapped between the offspring of the two forms. There was significant variation between populations and over time in both isotope ratios and carotenoid composition. Comparison between the two techniques would suggest that stable isotopes are more effective for distinguishing between offspring of different forms as the distinctions are evident for longer. Population differences in isotope ratios could influence the extent to which the forms can be distinguished and need to be quantified more thoroughly to fully evaluate the technique.
Exploring motivational interviewing and its philosophical alignment to an undergraduate behavioural science programme in dentistry
Authors: Curtin S. , Trace A. 
Published: October 2012

AbstractMotivational interviewing (MI) is a client‐centred, directive, therapeutic approach that enhances clients' readiness to change by exploring their ambivalence about doing so, thus increasing their motivation to change, and by helping them to commit to the process of change. MI is now being applied to dentistry in the area of oral health e.g. smoking cessation and the prevention of early childhood caries. This aligns dentistry with other healthcare professions in their focus on utilising MI to bring about behavioural change. This paper focuses on how the profession of dentistry would benefit from examining how to integrate MI both in undergraduate teaching and practice. Currently the teaching focus in relation to MI has centred on the theoretical content and less on underlying philosophy. This paper explores how a teaching philosophy, as delivered in the behavioural science programme in the School of Dentistry, University College Cork, Ireland, can provide a framework for teaching MI. Key components within this teaching philosophy are: teaching for understanding, developing reflective practice and student‐centred teaching.
Cells expressing markers of immature neurons in the amygdala of adult humans
Authors: Martí‐Mengual Ulisses , Varea Emilio , Crespo Carlos , Blasco‐Ibáñez José Miguel , Nacher Juan 
Published: October 2012

AbstractThe polysialylated form of the neuronal cell adhesion molecule (PSA‐NCAM) is expressed by immature neurons in the amygdala of adult mammals, including non‐human primates. In a recent report we have also described the presence of PSA‐NCAM‐expressing cells in the amygdala of adult humans. Although many of these cells have been classified as mature interneurons, some of them lacked mature neuronal markers, suggesting the presence of immature neurons. We have studied, using immunohistochemistry, the existence and distribution of these immature neurons using post mortem material. We have also analysed the presence of proliferating cells and the association between immature neurons and specialised astrocytes. These parameters have also been studied for comparative purposes in the amygdalae of cats and squirrel monkeys. Our results demonstrate that cells coexpressing doublecortin and PSA‐NCAM, but lacking neuronal nuclear antigen expression, were present in the amygdala of adult humans. These cells were organised in elongated clusters, which were located between the white matter of the dorsal hippocampus and the basolateral amygdaloid nucleus. These clusters were not associated with astroglial specialised structures. No cells expressing the proliferative marker Ki67 were observed in the amygdaloid parenchyma, although some of them were found in the vicinity of the lateral ventricle. Immature neurons were also present in the amygdala of squirrel monkeys and cats. These cells also appeared clustered in monkeys, although not as organised as in humans. In cats these cells are scarce, appear isolated and most of the PSA‐NCAM‐expressing structures corresponded to processes apparently originating from the paleocortical layer II.
Trait vs. phylogenetic diversity as predictors of competition and community composition in herbivorous marine amphipods
Authors: Best R. J. , Caulk N. C. , Stachowicz J. J. 
Published: October 2012

AbstractField studies of community assembly patterns increasingly use phylogenetic relatedness as a surrogate for traits. Recent experiments appear to validate this approach by showing effects of correlated trait and phylogenetic distances on coexistence. However, traits governing resource use in animals are often labile. To test whether feeding trait or phylogenetic diversity can predict competition and production in communities of grazing amphipods, we manipulated both types of diversity independently in mesocosms. We found that increasing the feeding trait diversity of the community increased the number of species coexisting, reduced dominance and changed food availability. In contrast, phylogenetic diversity had no effect, suggesting that whatever additional ecological information it represents was not relevant in this context. Although community phylogenetic structure in the field may result from multiple traits with potential for phylogenetic signal, phylogenetic effects on species interactions in controlled experiments may depend on the lability of fewer key traits.
Deletion of the Sox21 gene drastically affects hair lipids
Authors: Kawaminami Shunro , Breakspear Steven , Saga Yumiko , Noecker Bernd , Masukawa Yoshinori , Tsuchiya Masaru , Oguri Masashi , Inoue Yosuke , Ishikawa Kazutaka , Okamoto Masayuki 
Published: October 2012

AbstractThe effects of Sox21 gene deletion on hair lipids have been studied. For the cuticle‐specific bound lipid 18‐methyl eicosanoic acid (18‐MEA), which was found to predominantly exist as the free form in Sox21−/− hair, total levels and distribution were unexpectedly unchanged. This indicates that while the biosynthesis of 18‐MEA is unaffected, its covalent attachment to the cuticle surface is disrupted by loss of keratin‐associated protein binding partners. Although the class compositions differed, the total ceramide (CER) levels were found to be comparable between Sox21+/+ and Sox21−/− hairs. Deletion of the gene was also found to increase cholesterol sulphate (CS) levels. The biosynthesis process might be associated with cuticle keratinocyte maturation, because both CS and CERs are known bioactives in keratinocyte differentiation.
Thawing permafrost increases old soil and autotrophic respiration in tundra: Partitioning ecosystem respiration using δ13C and ∆14C
Authors: Hicks Pries Caitlin E. , Schuur Edward A. G. , Crummer Kathryn G. 
Published: October 2012

AbstractEcosystem respiration (Reco) is one of the largest terrestrial carbon (C) fluxes. The effect of climate change on Reco depends on the responses of its autotrophic and heterotrophic components. How autotrophic and heterotrophic respiration sources respond to climate change is especially important in ecosystems underlain by permafrost. Permafrost ecosystems contain vast stores of soil C (1672 Pg) and are located in northern latitudes where climate change is accelerated. Warming will cause a positive feedback to climate change if heterotrophic respiration increases without corresponding increases in primary production. We quantified the response of autotrophic and heterotrophic respiration to permafrost thaw across the 2008 and 2009 growing seasons. We partitioned Reco using Δ14C and δ13C into four sources–two autotrophic (above – and belowground plant structures) and two heterotrophic (young and old soil). We sampled the Δ14C and δ13C of sources using incubations and the Δ14C and δ13C of Reco using field measurements. We then used a Bayesian mixing model to solve for the most likely contributions of each source to Reco. Autotrophic respiration ranged from 40 to 70% of Reco and was greatest at the height of the growing season. Old soil heterotrophic respiration ranged from 6 to 18% of Reco and was greatest where permafrost thaw was deepest. Overall, growing season fluxes of autotrophic and old soil heterotrophic respiration increased as permafrost thaw deepened. Areas with greater thaw also had the greatest primary production. Warming in permafrost ecosystems therefore leads to increased plant and old soil respiration that is initially compensated by increased net primary productivity. However, barring large shifts in plant community composition, future increases in old soil respiration will likely outpace productivity, resulting in a positive feedback to climate change.