bluuebunny/crossref_metadata_2025_split huggingface dataset:
CAP2 deficiency delays myofibril actin cytoskeleton differentiation and disturbs skeletal muscle architecture and function
Authors: Kepser Lara-Jane , Damar Fidan , De Cicco Teresa , Chaponnier Christine , Prószyński Tomasz J. , Pagenstecher Axel , Rust Marco B. 
Published: April 2019

Significance
Displaced myofibrils termed ring fibers have been reported for human congenital myopathies and for myopathies of unknown etiology, but their natural cause largely remained elusive. Cyclase-associated protein 2 (CAP2) is an actin regulator with unknown physiological function. We identified CAP2 as a regulator for the exchange of α-actin isoforms during myofibril differentiation. In CAP2 mutant mice, myofibrils remained in an undifferentiated stage at the onset of excessive voluntary muscle contractions, predisposing them to form ring fibers that compromise skeletal muscle function. Our data confirm that subtle cytoskeletal changes can cause ring fibers. Moreover, they led us to propose that CAP2 inactivation contributes to defects of human 6p22.3 deletion syndrome such as developmental delay and hypotonia.
Processing of prompt gamma-ray timing data for proton range measurements at a clinical beam delivery
Authors: Werner Theresa , Berthold Jonathan , Hueso-González Fernando , Koegler Toni , Petzoldt Johannes , Roemer Katja , Richter Christian , Rinscheid Andreas , Straessner Arno , Enghardt Wolfgang , Pausch Guntram 
Published: April 2019

Abstract
In proton therapy, patients benefit from the precise deposition of the dose in the tumor volume due to the interaction of charged particles with matter. Currently, the determination of the beam range in the patient’s body during the treatment is not a clinical standard. This lack causes broad safety margins around the tumor, which limits the potential of proton therapy. To overcome this obstacle, different methods are under investigation aiming at the verification of the proton range in real time during the irradiation. One approach is the prompt gamma-ray timing (PGT) method, where the range of the primary protons is derived from time-resolved profiles (PGT spectra) of promptly emitted gamma rays, which are produced along the particle track in tissue. After verifying this novel technique in an experimental environment but far away from treatment conditions, the translation of PGT into clinical practice is intended. Therefore, new hardware was extensively tested and characterized using short irradiation times of 70 ms and clinical beam currents of 2 nA. Experiments were carried out in the treatment room of the University Proton Therapy Dresden. A pencil beam scanning plan was delivered to a target without and with cylindrical air cavities of down to 5 mm thickness. The range shifts of the proton beam induced due to the material variation could be identified from the corresponding PGT spectra, comprising events collected during the delivery of a whole energy layer. Additionally, an assignment of the PGT data to the individual pencil beam spots allowed a spot-wise analysis of the variation of the PGT distribution mean and width, corresponding to range shifts produced by the different air cavities. Furthermore, the paper presents a comprehensive software framework which standardizes future PGT analysis methods and correction algorithms for technical limitations that have been encountered in the presented experiments.
Interaction Analysis Investigations of Multiple Supply Duct Split-type Air-conditioning units in an Open Space
Authors: Widsonkun W , Woradechjumroen D , Vongbunyong S 
Published: April 2019

Abstract
Oversizing has been seldom concerning in Thailand. However, oversizing causes short-term operations of an air-conditioning (AC) unit and excessive power consumptions. In addition, multiple operations of oversized AC units can be faulty operations when they are used to serve in an open space area because interaction among AC units are not considered before installations. This paper collects data operations of the multiple supply duct split-type air-conditioning (SAC) units used in an open space from additional sensors installed in zone and return temperature. Significant wireless sensors are added for measuring temperature effect among a interaction area between two SAC units. To measure the system variation caused by system interaction, runtime fraction (RTF) is used to quantify the compressor runtime ratio which equals to a stage-on time operation over the cycle time at an AC design condition. The results show that one of the four SAC units performs under-sizing instead of oversizing performance because it runs continuously without off cycling. To diagnose this issue, interactions between zone and return temperature are quantified in terms of correlation coefficient, which demonstrates that this SAC results in higher oversizing of the rest SAC units. This interaction analysis can be further used to design a soft-repair algorithm to reduce oversizing effect of the multiple SAC operations.
Heat Transfer Augmentation in Round Tube with Diamond-shaped Baffle Inserts
Authors: Khanoknaiyakarn C. , Sripattanapipat S. , Promvonge P. , Skullong S. 
Published: April 2019

Abstract
Influences of diamond-shaped baffle (DSB) insertion in a heat exchanger tube on its thermal performance are experimentally presented. The DSB elements were repeatedly mounted into the tube using two straight small rods to connect the DSBs together to produce the longitudinal vortex flows inside. The experiments were carried out in a constant surface heat-fluxed tube equiped with DSBs. The DSBs were placed periodically with an attack angle of 45° and a pitch spacing of three times of tube diameter (PR=P/D=3) while four different DSB heights called blockage ratios (BR=b/D=0.1, 0.2, 0.3 and 0.4) were offered. Air was used as the test fluid flowed into the tube to yield the Reynolds number (Re) in a range of 4190-26,000. The heat transfer rate and the pressure drop of the current work were presented in terms of Nusselt number (Nu) and friction factor (f), respectively. The experimental results showed that the DSB provides the increase in the heat transfer around 3.53-4.16 times higher than the smooth tube while friction factor increases around 16.68-29.52 times. To evaluate the gain of using the DSB, the thermal performance factor (TEF) is determined in a range of 1.25-1.55 whereas the highest TEF is found at BR=0.1.
Patterns of emergency department attendance among older people in the last three months of life and factors associated with frequent attendance: a mortality follow-back survey
Authors: Bone Anna E , Evans Catherine J , Henson Lesley A , Gao Wei , Higginson Irene J ,   BUILDCARE study
Published: April 2019

AbstractBackgroundfrequent emergency department (ED) attendance at the end of life disrupts care continuity and contradicts most patients’ preference for home-based care.Objectiveto examine factors associated with frequent (≥3) end of life ED attendances among older people to identify opportunities to improve care.Methodspooled data from two mortality follow-back surveys in England. Respondents were family members of people aged ≥65 who died four to ten months previously. We used multivariable modified Poisson regression to examine illness, service and sociodemographic factors associated with ≥3 ED attendances, and directed content analysis to explore free-text responses.Results688 respondents (responses from 42.0%); most were sons/daughters (60.5%). Mean age at death was 85 years. 36.5% had a primary diagnosis of cancer and 16.3% respiratory disease. 80/661 (12.1%) attended ED ≥3 times, accounting for 43% of all end of life attendances. From the multivariable model, respiratory disease (reference cancer) and ≥2 comorbidities (reference 0) were associated with frequent ED attendance (adjusted prevalence ratio 2.12, 95% CI 1.21–3.71 and 1.81, 1.07–3.06). Those with ≥7 community nursing contacts (reference 0 contacts) were more likely to frequently attend ED (2.65, 1.49–4.72), whereas those identifying a key health professional were less likely (0.58, 0.37–0.88). Analysis of free-text found inadequate community support, lack of coordinated care and untimely hospital discharge were key issues.Conclusionsassigning a key health professional to older people at increased risk of frequent end of life ED attendance, e.g. those with respiratory disease and/or multiple comorbidities, may reduce ED attendances by improving care coordination.
A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia
Authors: Fan Peng , Zhao Yu-Mo , Zhang Di , Liao Ying , Yang Kun-Qi , Tian Tao , Lou Ying , Luo Fang , Ma Wen-Jun , Zhang Hui-Min , Song Lei , Cai Jun , Liu Ya-Xin , Zhou Xian-Liang 
Published: April 2019

Abstract

BACKGROUND
Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation.

METHODS
Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients.

RESULTS
Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS. This heterozygous frameshift mutation generated a premature stop codon and deleted the vital PY motif of ENaC. The same mutation was present in his elder brother with LS, and his mother without any LS symptoms. Biochemical examination showed normokalemia in the three mutation carriers. The mutation identified was not found in any other family members, 100 hypertensives, or 100 healthy controls.

CONCLUSIONS
Our study identified a novel SCNN1G frameshift mutation in a Chinese family with LS, expanding the genetic spectrum of SCNN1G. Genetic testing helped us identify LS with a pathogenic mutation when the genotypes and phenotype were not completely consistent because of the hypokalemia. This case emphasizes that once a proband is diagnosed with LS by genetic testing, family genetic sequencing is necessary for early diagnosis and intervention for other family members, to protect against severe cardiovascular complications.
Premaxillary Injection for Perioral Rejuvenation and Lip Enhancement
Authors: Ho Thuy-Van T , Cerrati Eric W , Gandhi Nimit D , Kalbag Arjun , Dayan Steven H 
Published: April 2019

AbstractBackgroundThis is the first study to evaluate the effect of premaxillary filler injection on nasal tip projection, upper lip projection, and upper lip vermilion height.ObjectivesThe primary objective of this study was to analyze the change in nasal tip projection (measured by the Goode ratio) and the change in upper lip projection (measured by the Z angle) following premaxillary hyaluronic acid injection. A secondary objective was to measure the change in upper lip vermilion height. We hypothesized that treated subjects will show an increase in nasal tip projection, upper lip projection, and upper lip vermilion height.MethodsTwenty volunteer patients with signs of perioral aging or poor upper lip projection were enrolled in this prospective cohort study and underwent premaxillary hyaluronic acid filler injection between November 2017 and June 2018. Nasal tip projection, upper lip projection, and upper lip vermilion height were assessed from baseline and posttreatment photographs based on the Goode ratio, Z angle, and lip vermilion height ratio, respectively.ResultsNo significant change was noted between pre- and posttreatment Goode ratio measurements (P = 0.841). There was a significant decrease in Z angle and therefore significant increase in upper lip projection with treatment (P &lt; 0.001). The lip vermilion height ratio demonstrated a trend of increased upper lip vermilion height but this did not achieve statistical significance (P = 0.561).ConclusionsPremaxillary filler treatment resulted in a significant increase in upper lip projection. Premaxillary filler injection when performed in a safe manner is a valuable treatment option for perioral rejuvenation.Level of Evidence: 4
Revised phylogeography of the common whelk Buccinum undatum (Gastropoda: Buccinidae) across the North Atlantic
Authors: Magnúsdóttir Hildur , Pálsson Snæbjörn , Westfall Kristen Marie , Jónsson Zophonías O , Goodall Jake , Örnólfsdóttir Erla Björk 
Published: April 2019

AbstractThe purpose of this study was to revisit the mitochondrial genetic divergence of North Atlantic populations of the subtidal gastropod Buccinum undatum, because previous mitochondrial DNA (mtDNA) analysis by Pálsson et al. (2014) included 16S ribosomal RNA sequences that were incorrectly assigned to the species. In the present study, population mtDNA variation is now assessed using COI sequences obtained from previous research (Pálsson et al., 2014) and, to increase the geographical cover of the study, data from recently assembled transcriptomes of 96 Icelandic whelks (Jónsson et al., 2019) and GenBank are also used. To estimate the mtDNA divergence in B. undatum across the North Atlantic, two species screening indices were used: automatic barcode gap discovey (ABGD; Puillandre et al., 2012a) and species screening threshold index (SSTI; Witt et al., 2006). Phylogenetic reconstruction revealed monophyletic Eastern and Western North Atlantic whelk lineages, which diverged early in the Pleistocene glaciation (2.1 Mya), followed by a subsequent divergence event between Greenlandic and Canadian populations at 1.3 Mya. Species screening indices, ABGD and SSTI, indicated cryptic speciation or allopatric divergence. Genetic distances between populations from the two continents were similar to or greater than interspecific genetic distances across several North Pacific and North Atlantic Buccinum species.
Presynaptic dopamine deficit in minimally conscious state patients following traumatic brain injury
Authors: Fridman Esteban A , Osborne Joseph R , Mozley Paul D , Victor Jonathan D , Schiff Nicholas D 
Published: April 2019

Abstract
Dopaminergic stimulation has been proposed as a treatment strategy for post-traumatic brain injured patients in minimally conscious state based on a clinical trial using amantadine, a weak dopamine transporter blocker. However, a specific contribution of dopaminergic neuromodulation in minimally conscious state is undemonstrated. In a phase 0 clinical trial, we evaluated 13 normal volunteers and seven post-traumatic minimally conscious state patients using 11C-raclopride PET to estimate dopamine 2-like receptors occupancy in the striatum and central thalamus before and after dopamine transporter blockade with dextroamphetamine. If a presynaptic deficit was observed, a third and a fourth 11C-raclopride PET were acquired to evaluate changes in dopamine release induced by l-DOPA and l-DOPA+dextroamphetamine. Permutation analysis showed a significant reduction of dopamine release in patients, demonstrating a presynaptic deficit in the striatum and central thalamus that could not be reversed by blocking the dopamine transporter. However, administration of the dopamine precursor l-DOPA reversed the presynaptic deficit by restoring the biosynthesis of dopamine from both ventral tegmentum and substantia nigra. The advantages of alternative pharmacodynamic approaches in post-traumatic minimally conscious state patients should be tested in clinical trials, as patients currently refractory to amantadine might benefit from them.
Accelerated Hyper-Maturation of Parvalbumin Circuits in the Absence of MeCP2
Authors: Patrizi Annarita , Awad Patricia N , Chattopadhyaya Bidisha , Li Chloe , Di Cristo Graziella , Fagiolini Michela 
Published: April 2019

Abstract
Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder. Cortical parvalbumin GABAergic interneurons (PV) make exuberant somatic connections onto pyramidal cells in the visual cortex of Mecp2-deficient mice, which contributes to silencing neuronal cortical circuits. This phenotype can be rescued independently of Mecp2 by environmental, pharmacological, and genetic manipulation. It remains unknown how Mecp2 mutation can result in abnormal inhibitory circuit refinement. In the present manuscript, we examined the development of GABAergic circuits in the primary visual cortex of Mecp2-deficient mice. We identified that PV circuits were the only GABAergic interneurons to be upregulated, while other interneurons were downregulated. Acceleration of PV cell maturation was accompanied by increased PV cells engulfment by perineuronal nets (PNNs) and by an increase of PV cellular and PNN structural complexity. Interestingly, selective deletion of Mecp2 from PV cells was sufficient to drive increased structure complexity of PNN. Moreover, the accelerated PV and PNN maturation was recapitulated in organotypic cultures. Our results identify a specific timeline of disruption of GABAergic circuits in the absence of Mecp2, indicating a possible cell-autonomous role of MeCP2 in the formation of PV cellular arbors and PNN structures in the visual cortex.
Network using Michaelis–Menten kinetics: constructing an algorithm to find target genes from expression data
Authors: Krishnan Mythreye , Small Michael , Bosco Anthony , Stemler Thomas 
Published: April 2019

AbstractThe most challenging aspect of gene expression data analysis is to process the large and complex data using mathematical models and find biologically relevant information that gives insight to the underlying mechanism. We derived a simple ordinary differential equation-based model using Michaelis–Menten Kinetics to process the microarray data. Different biological systems of experimental rhinovirus infection in humans, atopic CD4 T cell responses in allergens and responses to cancer immunotherapy in mice have been studied. The resulting analysis extracts highly linked target genes, the changes in which might cause changes in the other genes, in other words, potential targets for modulating gene network patterns and emergent biological phenotypes. We illustrate the application of the algorithm to identify novel targets in addition to previously identified targets in different experimental contexts.
‘Unhappy and Wretched Creatures’: Charity, Poor Relief and Pauper Removal in Britain and Ireland during the Great Famine
Authors: Darwen Lewis , Macraild Donald , Gurrin Brian , Kennedy Liam 
Published: April 2019

Abstract
During the Great Famine (1845–51) hundreds of thousands of Irish refugees fled to Britain, escaping the hunger and disease afflicting their homeland. Many made new lives there, but others were subsequently shipped back to Ireland by poor law authorities under the laws of Settlement and Removal. This article explores the coping strategies of the Famine Irish in Britain, and the responses of poor law authorities to the inflow of refugees with a particular focus on their use of removal. We argue that British poor law unions in areas heavily affected by the refugee crisis adopted rigorous removal policies, and that the non-settled Irish were consequently deeply reluctant to apply for poor relief, doing so only when alternative sources of support were unavailable. Thus, the true scale of Irish hardship was hidden from the official record. The article also explores, for the first time, the experiences of those sent back to Ireland, a country suffering from the devastating effects of Famine. The combination of heavy Irish immigration to Britain and large-scale removals back to Ireland created distrust between the authorities at British and Irish port towns, as both sides felt aggrieved by the inflow of destitute Irish arriving on their shores. At the centre of all this were the Irish poor themselves. Uncertainty, dislocation and hardship were often their experience, and we argue that this endured long after the Famine had ended; that the events of the late 1840s, indeed, created a new reality for the Irish in Britain.
Eliciting Life Priorities of Older Adults Living in Permanent Supportive Housing
Authors: Padgett Deborah K , Bond Lynden , Gurdak Kristen , Henwood Benjamin F 
Published: April 2019

Abstract

Background and Objectives
Adults who have experienced chronic homelessness are considered to be “old” by age 50 due to accelerated aging. While permanent supportive housing (PSH) has been found effective for these individuals, there is limited focus on the needs of adults “aging in place” in PSH. This study examined (1) how older adults in PSH identify and rank their life priorities, (2) how they describe these priorities in their own words, and (3) how life course adversity deepens an understanding of these priorities.

Research Design and Methods
A convergent parallel mixed methods design was used in which qualitative case study analyses informed by a life course perspective provided a deeper understanding of how 14 older residents of PSH viewed their life priorities using quantitative card-sort rankings of 12 life domains.

Results
Housing, family, mental health, physical health, and partner were the most frequently endorsed life priorities. Four themes emerged from the cross-case analyses: “aging in, aging out,” “carefully restoring relationships,” “life goes on,” and “housing is fundamental.” Convergent findings indicated that life adversity—social losses and interrupted lives—influenced both the high- and low-ranked card-sort priorities.

Discussion and Implications
This study demonstrated that participants were aware of their advancing years yet they sought to overcome adversity and losses through maintaining mental health and sobriety, improving physical health, and cautiously rebuilding relationships. As the numbers of older homeless rise, the inclusion of age-related services will be an important component of PSH services for residents as they age.
Psychological flexibility: positive implications for mental health and life satisfaction
Authors: Lucas James J , Moore Kathleen A 
Published: April 2019

Abstract
New wave therapies such as Acceptance and Commitment Therapy aim to cultivate people’s psychological flexibility in order for them to live a satisfying life. Psychological flexibility has also a role in promoting mental health, which may mediate the relationship with life satisfaction. The aim of this study was to determine whether mental health mediates the effect of psychological flexibility on life satisfaction. A convenience sample of 140 adults (32 males, M = 36.50 years, SD = 12.22; 107 females, M = 38.46 years, SD = 12.81; and a 45-year-old person of unknown gender) completed an online questionnaire assessing psychological flexibility, mental health and life satisfaction. Three of the four hypothesized components of psychological flexibility (experiential acceptance, cognitive alternatives and cognitive control) contributed to the latent construct of psychological flexibility, but cognitive defusion failed to contribute. Psychological flexibility had a direct, positive effect on life satisfaction and the hypothesis that mental health would mediate this relationship was supported. The results suggest that psychological flexibility is important for one’s mental health and that both are integral to life satisfaction. The results also support a continued focus on third-wave therapies in cultivating psychological flexibility.