bluuebunny/crossref_metadata_2025 huggingface dataset:
Time‐restricted feeding for prevention and treatment of cardiometabolic disorders
Authors: Melkani Girish C. , Panda Satchidananda
Published: March 2017

The soaring prevalence of obesity and diabetes is associated with an increase in comorbidities, including elevated risk for cardiovascular diseases (CVDs). CVDs continue to be among the leading causes of death and disability in the United States. While increased nutritional intake from an energy‐dense diet is known to disrupt metabolic homeostasis and contributes to the disease risk, circadian rhythm disruption is emerging as a new risk factor for CVD. Circadian rhythms coordinate cardiovascular health via temporal control of organismal metabolism and physiology. Thus, interventions that improve circadian rhythms are prospective entry points to mitigate cardiometabolic disease risk. Although light is a strong modulator of the neural circadian clock, time of food intake is emerging as a dominant agent that affects circadian clocks in metabolic organs. We discovered that imposing a time‐restricted feeding (TRF) regimen in which all caloric intakes occur consistently within ≤ 12 h every day exerts many cardiometabolic benefits. TRF prevents excessive body weight gain, improves sleep, and attenuates age‐ and diet‐induced deterioration in cardiac performance. Using an integrative approach that combines Drosophila melanogaster (fruit fly) genetics with transcriptome analyses it was found that the beneficial effects of TRF are mediated by circadian clock, ATP‐dependent TCP/TRiC/CCT chaperonin and mitochondrial electron transport chain components. Parallel studies in rodents have shown TRF reduces metabolic disease risks by maintaining metabolic homeostasis. As modern humans continue to live under extended periods of wakefulness and ingestion events, daily eating pattern offers a new potential target for lifestyle intervention to reduce CVD risk.

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Functional interplay of visual, sensitizing and screening pigments in the eyes of Drosophila and other red‐eyed dipteran flies
Authors: Stavenga D. G. , Wehling M. F. , Belušič G.
Published: March 2017

Several fly species have distinctly red‐coloured eyes, meaning that the screening pigments that provide a restricted angular sensitivity of the photoreceptors may perform poorly in the longer wavelength range. The functional reasons for the red transparency and possible negative visual effects of the spectral properties of the eye‐colouring screening pigments are discussed within the context of the photochemistry, arrestin binding and turnover of the visual pigments located in the various photoreceptor types. A phylogenetic survey of the spectral properties of the main photoreceptors of the Diptera indicates that the transition of the brown eye colour of the Nematocera and lower Brachycera to a much redder eye colour of the higher Brachycera occurred around the emergence of the Tabanidae family.

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The Effect of a Meter-Diffuser Offset on Shaped Film Cooling Hole Adiabatic Effectiveness
Authors: Haydt Shane , Lynch Stephen , Lewis Scott
Published: March 2017

Shaped film cooling holes are used extensively in gas turbines to reduce component temperatures. These holes generally consist of a metering section through the material and a diffuser to spread coolant over the surface. These two hole features are created separately using electrical discharge machining (EDM), and occasionally, an offset can occur between the meter and diffuser due to misalignment. The current study examines the potential impact of this manufacturing defect to the film cooling effectiveness for a well-characterized shaped hole known as the 7-7-7 hole. Five meter-diffuser offset directions and two offset sizes were examined, both computationally and experimentally. Adiabatic effectiveness measurements were obtained at a density ratio of 1.2 and blowing ratios ranging from 0.5 to 3. The detriment in cooling relative to the baseline 7-7-7 hole was worst when the diffuser was shifted upstream (aft meter-diffuser offset), and least when the diffuser was shifted downstream (fore meter-diffuser offset). At some blowing ratios and offset sizes, the fore meter-diffuser offset resulted in slightly higher adiabatic effectiveness than the baseline hole, due to a reduction in the high-momentum region of the coolant jet caused by a separation region created inside the hole by the fore meter-diffuser offset. Steady Reynolds-averaging Navier–Stokes (RANS) predictions did not accurately capture the levels of adiabatic effectiveness or the trend in the offsets, but it did predict the fore offset's improved performance.
Numerical Analysis of Unsteady Conjugate Natural Convection of Hybrid Water-Based Nanofluid in a Semicircular Cavity
Authors: Chamkha Ali J. , Miroshnichenko Igor V. , Sheremet Mikhail A.
Published: March 2017

Unsteady conjugate natural convection in a semicircular cavity with a solid shell of finite thickness filled with a hybrid water-based suspension of Al2O3 and Cu nanoparticles (hybrid nanofluid) has been analyzed numerically. The governing equations for this investigation are formulated in terms of the dimensionless stream function, vorticity, and temperature and have been solved by the finite difference method of the second-order accuracy. The effects of the dimensionless time, Rayleigh number, thermal conductivity ratio, and the nanoparticles volume fraction on the flow patterns and heat transfer have been studied. The obtained results have revealed essential heat transfer enhancement at solid–fluid interface with addition of nanoparticles. In addition, a comparison of the heat transfer enhancement level due to the suspension of various nanoparticles materials (Al2O3 and Cu) in water as regular nanofluids (Al2O3/water and Cu/water) and as a hybrid Al2O3–Cu/water nanofluid is reported.
Pure linguistic interference during comprehension of competing speech signals
Authors: Dai Bohan , McQueen James M. , Hagoort Peter , Kösem Anne
Published: March 2017

Speech-in-speech perception can be challenging because the processing of competing acoustic and linguistic information leads to informational masking. Here, a method is proposed to isolate the linguistic component of informational masking while keeping the distractor's acoustic information unchanged. Participants performed a dichotic listening cocktail-party task before and after training on 4-band noise-vocoded sentences that became intelligible through the training. Distracting noise-vocoded speech interfered more with target speech comprehension after training (i.e., when intelligible) than before training (i.e., when unintelligible) at −3 dB SNR. These findings confirm that linguistic and acoustic information have distinct masking effects during speech-in-speech comprehension.
T cell costimulatory receptor CD28 is a primary target for PD-1–mediated inhibition
Authors: Hui Enfu , Cheung Jeanne , Zhu Jing , Su Xiaolei , Taylor Marcus J. , Wallweber Heidi A. , Sasmal Dibyendu K. , Huang Jun , Kim Jeong M. , Mellman Ira , Vale Ronald D.
Published: March 2017

Immunotherapeutic PD-1–targeted therapies require CD28 to promote cancer cell killing.
The whole-soil carbon flux in response to warming
Authors: Hicks Pries Caitlin E. , Castanha C. , Porras R. C. , Torn M. S.
Published: March 2017

Warming the top meter increased soil CO­
2
production by 37%, with 40% of the response coming from soils more than 15 centimeters deep.
Stromal
Gli2
activity coordinates a niche signaling program for mammary epithelial stem cells
Authors: Zhao Chen , Cai Shang , Shin Kunyoo , Lim Agnes , Kalisky Tomer , Lu Wan-Jin , Clarke Michael F. , Beachy Philip A.
Published: March 2017

Double duty for mammary stem cell niche

The stem cell niche is a complex local signaling microenvironment that regulates stem cell activity for tissue and organ maintenance and regeneration. As well as responding locally, during puberty, the mammary gland stem cell niche also responds to systemic hormonal signals. Zhao
et al.
have found that Gli2, a transcriptional effector of Hedgehog signaling, coordinates the niche-signaling program and activates expression of receptors for the mammatrophic hormones estrogen and growth hormone throughout the mammary gland (see the Perspective by Robertson). Disease may result not only from stem cell defects, but also from dysregulation of the microenvironment.

Science
, this issue p.
eaal3485
; see also p.
250
Complete Genome Sequence of Bifidobacterium longum W11 (LMG P-21586), Used as a Probiotic Strain
Authors: Inturri Rosanna , Ventura Marco , Ruas-Madiedo Patricia , Lugli Gabriele Andrea , Blandino Giovanna
Published: March 2017

We report the complete genome sequence of
Bifidobacterium longum
W11 (LMG P-21586) isolated from the intestinal microbiota of a healthy man. The analysis of the sequence may provide insights into the microbiological characteristics and the functional activity of this probiotic strain.
Complete Genome Sequence of a Foot-and-Mouth Disease Virus of Serotype O Isolated from Gimje, Republic of Korea, in 2016
Authors: Ryoo Soyoon , Kim Taeseong , Nah Jin Ju , Sagong Min Geun , Lee Sumee , Lee Kwang-Nyeong , Ko Young-Joon , Park Jong-Hyeon , Lee Myoung-Heon , Wee Sung-Hwan , Tark Dongseob , Ku Bok Kyung
Published: March 2017

The complete genome sequence of a foot-and-mouth disease (FMD) serotype O virus isolated from Gimje, Republic of Korea, is reported here.
Complete Chloroplast Genome Sequence of the Early Diverging Green Alga
Palmophyllum crassum
Authors: Furukawa Ryo , Kunugi Motoshi , Ihara Kunio , Takabayashi Atsushi , Tanaka Ayumi
Published: March 2017

Palmophyllum crassum
is a little-known green alga, with a unique evolutionary position and distinctive photosynthetic features. Here, we present the complete chloroplast genome sequence of
Palmophyllum crassum
.
Draft Genome Sequence of
Idiomarina
sp. Strain 5.13, a Highly Stress-Resistant Bacterium Isolated from the Southwest Indian Ridge
Authors: Sinha Rupesh Kumar , Krishnan K. P. , Kurian P. John
Published: March 2017

Idiomarina
sp. strain 5.13, able to produce biopolymer and exopolysaccharide, was isolated from a sediment sample collected from the Southwest Indian Ridge, Indian Ocean. Analysis of its draft genome sequence provides insights into its remarkable stress tolerance and offers the genetic basis for harnessing the biotechnological potential of this strain.
Epigenetic Phosphorylation Control of
Mycobacterium tuberculosis
Infection and Persistence
Authors: Richard-Greenblatt Melissa , Av-Gay Yossef
Published: March 2017

Reversible protein phosphorylation is the most common type of epigenetic posttranslational modification in living cells used as a major regulation mechanism of biological processes. The
Mycobacterium tuberculosis
genome encodes for 11 serine/threonine protein kinases that are responsible for sensing environmental signals to coordinate a cellular response to ensure the pathogen’s infectivity, survival, and growth. To overcome killing mechanisms generated within the host during infection,
M. tuberculosis
enters a state of nonreplicating persistence that is characterized by arrested growth, limited metabolic activity, and phenotypic resistance to antimycobacterial drugs. In this article we focus our attention on the role of
M. tuberculosis
serine/threonine protein kinases in sensing the host environment to coordinate the bacilli’s physiology, including growth, cell wall components, and central metabolism, to establish a persistent infection.
Central Nervous System Tuberculosis
Authors: Leonard John M.
Published: March 2017

Central nervous system tuberculosis (CNS-TB) takes three clinical forms: meningitis (TBM), intracranial tuberculoma, and spinal arachnoiditis. TBM predominates in the western world and presents as a subacute to chronic meningitis syndrome with a prodrome of malaise, fever, and headache progressing to altered mentation and focal neurologic signs, followed by stupor, coma, and death within five to eight weeks of onset. The CSF formula typically shows a lymphocytic pleocytosis, and low glucose and high protein concentrations. Diagnosis rests on serial samples of CSF for smear and culture, combined with CSF PCR. Brain CT and MRI aid in diagnosis, assessment for complications, and monitoring of the clinical course. In a patient with compatible clinical features, the combination of meningeal enhancement and any degree of hydrocephalus is strongly suggestive of TBM. Vasculitis leading to infarcts in the basal ganglia occurs commonly and is a major determinant of morbidity and mortality. Treatment is most effective when started in the early stages of disease, and should be initiated promptly on the basis of strong clinical suspicion without waiting for laboratory confirmation. The initial 4 drug regimen (isoniazid, rifampin, pyrazinamide, ethambutol) covers the possibility of infection with a resistant strain, maximizes antimicrobial impact, and reduces the likelihood of emerging resistance on therapy. Adjunctive corticosteroid therapy has been shown to reduce morbidity and mortality in all but late stage disease.
Regulation of the Candida albicans Hypha-Inducing Transcription Factor Ume6 by the CDK1 Cyclins Cln3 and Hgc1
Authors: Mendelsohn Sigal , Pinsky Mariel , Weissman Ziva , Kornitzer Daniel
Published: March 2017

The yeast to hypha (mold) morphogenetic switch of
Candida albicans
plays a role in its virulence and constitutes a diagnostic trait for this organism, the most prevalent systemic fungal pathogen in industrialized countries. It has long been known that hyphae are most efficiently induced from stationary cultures. Here, a molecular basis for this observation is provided. The G
1
cyclin Cln3, an essential promoter of yeast proliferation, was found to suppress hyphal induction. Suppression of hyphal induction is achieved by inhibition of the activity of the central activator of hyphal morphogenesis, the transcription factor Ume6. Thus, levels of Cln3 control the switch between proliferation of
C. albicans
as individual yeast cells and development into extended hyphae, a switch that may preface the proliferation/differentiation switch in multicellular organisms.
OptiClust, an Improved Method for Assigning Amplicon-Based Sequence Data to Operational Taxonomic Units
Authors: Westcott Sarah L. , Schloss Patrick D.
Published: March 2017

The analysis of microbial communities from diverse environments using 16S rRNA gene sequencing has expanded our knowledge of the biogeography of microorganisms. An important step in this analysis is the assignment of sequences into taxonomic groups based on their similarity to sequences in a database or based on their similarity to each other, irrespective of a database. In this study, we present a new algorithm for the latter approach. The algorithm, OptiClust, seeks to optimize a metric of assignment quality by shuffling sequences between taxonomic groups. We found that OptiClust produces more robust assignments and does so in a rapid and memory-efficient manner. This advance will allow for a more robust analysis of microbial communities and the factors that shape them.
Association of comorbidity and health service usage among patients with dementia in the UK: a population-based study
Authors: Browne Jorge , Edwards Duncan A , Rhodes Kirsty M , Brimicombe D James , Payne Rupert A
Published: March 2017

Background

The majority of people with dementia have other long-term diseases, the presence of which may affect the progression and management of dementia. This study aimed to identify subgroups with higher healthcare needs, by analysing how primary care consultations, number of prescriptions and hospital admissions by people with dementia varies with having additional long-term diseases (comorbidity).

Methods

A retrospective cohort study based on health data from the Clinical Practice Research Datalink (CPRD) was conducted. Incident cases of dementia diagnosed in the year starting 1/3/2008 were selected and followed for up to 5 years. The number of comorbidities was obtained from a set of 34 chronic health conditions. Service usage (primary care consultations, hospitalisations and prescriptions) and time-to-death were determined during follow-up. Multilevel negative binomial regression and Cox regression, adjusted for age and gender, were used to model differences in service usage and death between differing numbers of comorbidities.

Results

Data from 4999 people (14 866 person-years of follow-up) were analysed. Overall, 91.7% of people had 1 or more additional comorbidities. Compared with those with 2 or 3 comorbidities, people with ≥6 comorbidities had higher rates of primary care consultations (rate ratio (RR) 1.31, 95% CI 1.25 to 1.36), prescriptions (RR 1.68, 95% CI 1.57 to 1.81), and hospitalisation (RR 1.62, 95% CI 1.44 to 1.83), and higher risk of death (HR 1.56, 95% CI 1.37 to 1.78).

Discussion

In the UK, people with dementia with higher numbers of comorbidities die earlier and have considerably higher health service usage in terms of primary care consultations, hospital admissions and prescribing. This study provides strong evidence that comorbidity is a key factor that should be considered when allocating resources and planning care for people with dementia.
Multicentre randomised study of the effect and experience of an early inhome programme (PreHomeCare) for preterm infants using video consultation and smartphone applications compared with inhospital consultations: protocol of the PreHomeCare study
Authors: Hägi-Pedersen Mai-Britt , Norlyk Annelise , Dessau Ram , Stanchev Hristo , Kronborg Hanne
Published: March 2017

Introduction

Although premature infants and their parents are discharged earlier to inhomecare programmes, how to optimally support parents during this transition remains unknown. The aim of this study is to compare the effects of early inhomecare (PreHomeCare) including video consultations and mobile applications with those of inhospital consultations regarding breast feeding, parental confidence and parent–infant interactions.

Methods and analysis

A randomised controlled intervention study will be conducted in four neonatal departments offering PreHomeCare (ie, premature infant inhomecare) in Denmark. Parents of hospitalised premature infants who fulfil the inclusion criteria for PreHomeCare will be randomised during hospitalisation to either the intervention (n=80) or control group (n=80) using 1:1 block randomisation. During PreHomeCare, the intervention group will receive a smartphone application with a video system and an infant scale, and the control group will receive usual care (ie, hospital consultations). Additionally, both groups will have planned nurse consultations two to three times a week: the intervention group through video consultations and the control group through inhospital consultations. Data collection will occur at inclusion/baseline, at the end of PreHomeCare and 1 month after discharge using questionnaires and hospital records. The primary outcome is the proportion of exclusively breastfed infants 1 month after discharge/end of PreHomeCare, the secondary outcomes are parent–infant interactions measured by the Mother and baby interaction scale and family confidence in caring for infants measured by the Karitane Parenting Confidence Scale. The process evaluation will consist of two qualitative studies: a field study and an interview study. Data collection will initially involve field observations of three scheduled video consultations with six families from the intervention group. These families will also be interviewed 1 month after PreHomeCare has ended.

Ethics and dissemination

The project has been approved by the Regional Ethics Committee and the Danish Data Protection Agency.

Trial registration number

NCT02581800.
Incidence and relative risk for developing cancer among patients with COPD: a nationwide cohort study in Taiwan
Authors: Ho Chung-Han , Chen Yi-Chen , Wang Jhi-Joung , Liao Kuang-Ming
Published: March 2017

Objectives

This observational study aimed to examine the incidence of malignant diseases, including specific cancer types, after the diagnosis of chronic obstructive pulmonary disease (COPD) in Taiwanese patients.

Setting

Taiwan's National Health Insurance Research Database.

Participants

The definition of a patient with COPD was a patient with a discharge diagnosis of COPD or at least 3 ambulatory visits for COPD. The index date was the date of the first COPD diagnosis. Patients with a history of malignancy disorders before the index date were excluded. After matching age and gender, 13 289 patients with COPD and 26 578 control participants without COPD were retrieved and analysed. They were followed from the index date to malignancy diagnosis, death or the end of study follow-up (31 December 2011), whichever came first.

Primary outcome measures

Patients were diagnosed with cancer (n=1681, 4.2%; 973 (7.3%) for patients with COPD and 728 (2.7%) for patients without COPD). The risk of 7 major cancer types, including lung, liver, colorectal, breast, prostate, stomach and oesophagus, between patients with COPD and patients without COPD was also estimated.

Results

The mean age of all study participants was 57.9±13.5 years. The average length of follow-up to cancer incidence was 3.9 years for patients with COPD and 5.0 years for patients without COPD (p<0.01). Patients with COPD were diagnosed with cancer (n=973, 73%) at a significantly higher rate than patients without COPD (n=708, 2.7%; p<0.01). The HR for developing cancer in patients with COPD was 2.8 (95% CI 2.6 to 3.1) compared with patients without COPD after adjusting for age, sex and comorbidities. The most common cancers in patients with COPD include lung, liver, colorectal, breast, prostate and stomach cancers.

Conclusions

The risk of developing cancer is higher in patients with COPD compared with patients without COPD. Cancer screening is warranted in patients with COPD.
Facilitators and barriers to chlamydia testing in general practice for young people using a theoretical model (COM-B): a systematic review protocol
Authors: McDonagh Lorraine K , Saunders John M , Cassell Jackie , Bastaki Hamad , Hartney Thomas , Rait Greta
Published: March 2017

Introduction

Chlamydia is a key health concern with high economic and social costs. There were over 200 000 chlamydia diagnoses made in England in 2015. The burden of chlamydia is greatest among young people where the highest prevalence rates are found. Annual testing for sexually active young people is recommended; however, many of those at risk do not receive testing. General practice has been identified as an ideal setting for testing, yet efforts to increase testing in this setting have not been effective. One theoretical model which may provide insight into the underpinnings of chlamydia testing is the Capability, Opportunity and Motivation Model of Behaviour (COM-B model). The aim of this systematic review is to: (1) identify barriers and facilitators to chlamydia testing for young people in general practice and (2) use a theoretical model to conduct a behavioural analysis of chlamydia testing behaviour.

Methods and analysis

Qualitative, quantitative and mixed methods studies published after 2000 will be included. Seven databases (MEDLINE, PubMed, EMBASE, Informit, PsycInfo, Scopus, Web of Science) will be searched to identify peer-reviewed publications which examined barriers and facilitators to chlamydia testing in general practice. Risk of bias will be assessed using the Critical Appraisal Skills Programme. Data regarding study design and key findings will be extracted. The data will be analysed using thematic analysis and the resultant factors will be mapped onto the COM-B model components. All findings will be reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Ethics and dissemination

Ethical approval is not required. The results will be disseminated via submission for publication to a peer-review journal when complete and for presentation at national and international conferences. The review findings will be used to inform the development of interventions to facilitate effective and efficient chlamydia testing in general practice.
Large-scale implementation of the I-PASS handover system at an academic medical centre
Authors: Shahian David M , McEachern Kayla , Rossi Laura , Chisari Roger Gino , Mort Elizabeth
Published: March 2017

Background

Healthcare has become increasingly complex and care delivery models have changed dramatically (eg, team-based care, duty-hour restrictions). However, approaches to critical communications among providers have not evolved to meet these new challenges. Evidence from safety culture surveys, academic studies and malpractice claims suggests that healthcare handover quality is problematic, leading to preventable errors and adverse outcomes. To address this concern, from 2013 to 2016 Massachusetts General Hospital completed phase I of a multifaceted programme to implement standardised, structured handovers across all departments, units and direct care providers.

Methods

A multidisciplinary Handovers Committee selected the I-PASS handover system. Phase I implementation focused on large-scale training and shift-to-shift handovers. Important features included administrative and clinical leadership support; EHR templates for I-PASS; hospital handover policy revision; varied educational modalities, venues and durations; concomitant TeamSTEPPS training; unit-level I-PASS champions; handover observations; and solicitation of caregiver feedback and suggestions.

Results

More than 6000 doctors, nurses and therapists have been trained. Trended observation scores demonstrate progressive but non-uniform adoption of I-PASS, with significant improvements in the correct sequencing and percentage of I-PASS elements included in handovers. Adoption of Synthesis (readback) has been challenging, with lower scores.

Conclusions

Comprehensive I-PASS implementation in a large academic medical centre necessitated major cultural change. I-PASS education is straightforward, whereas assuring consistent and sustained adoption across all services is more challenging, requiring adaptation of the basic I-PASS structure to local needs and workflows. EHR I-PASS templates facilitated caregiver acceptance. Initial phase I results are encouraging and the lessons learned should be helpful to other programmes planning handover initiatives. Phase II is ongoing, focusing on more uniform and consistent adoption, spread and sustainability.
Homozygous mutation inNUP107leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Authors: Rosti Rasim Ozgur , Sotak Bethany N , Bielas Stephanie L , Bhat Gifty , Silhavy Jennifer L , Aslanger Ayca Dilruba , Altunoglu Umut , Bilge Ilmay , Tasdemir Mehmet , Yzaguirrem Amanda D , Musaev Damir , Infante Sofia , Thuong Whitney , Marin-Valencia Isaac , Nelson Stanley F , Kayserili Hulya , Gleeson Joseph G
Published: March 2017

Background

Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations inWDR73(OMIM: 616144). However, not all patients harbour demonstrableWDR73deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology.

Methods

Autozygosity mapping and candidate analysis was used to identify deleterious variants in consanguineous families. Analysis of patient fibroblasts was used to study splicing and alterations in cellular function.

Results

In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping innucleoporin, 107-KD(NUP107). The founder mutation was associated with concomitant reduction in NUP107 protein and in the obligate binding partner NUP133 protein, as well as density of nuclear pores in patient cells.

Conclusion

Recently,NUP107was suggested as a candidate in a family with nephrotic syndrome and developmental delay. OtherNUP107-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role forNUP107in the regulation of brain growth and a GAMOS-like presentation.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
Authors: Mirabello Lisa , Khincha Payal P , Ellis Steven R , Giri Neelam , Brodie Seth , Chandrasekharappa Settara C , Donovan Frank X , Zhou Weiyin , Hicks Belynda D , Boland Joseph F , Yeager Meredith , Jones Kristine , Zhu Bin , Wang Mingyi , Alter Blanche P , Savage Sharon A
Published: March 2017

Background

Diamond-Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterised by erythroid hypoplasia. It is associated with congenital anomalies and a high risk of developing specific cancers. DBA is caused predominantly by autosomal dominant pathogenic variants in at least 15 genes affecting ribosomal biogenesis and function. Two X-linked recessive genes have been identified.

Objectives

We aim to identify the genetic aetiology of DBA.

Methods

Of 87 families with DBA enrolled in an institutional review board-approved cohort study (ClinicalTrials.gov Identifier:NCT00027274), 61 had genetic testing information available. Thirty-five families did not have a known genetic cause and thus underwent comprehensive genomic evaluation with whole exome sequencing, deletion and CNV analyses to identify their disease-associated pathogenic variant. Controls for functional studies were healthy mutation-negative individuals enrolled in the same study.

Results

Our analyses uncovered heterozygous pathogenic variants in two previously undescribed genes in two families. One family had a non-synonymous variant (p.K77N) inRPL35; the second family had a non-synonymous variant (p. L51S) inRPL18. Both of these variants result in pre-rRNA processing defects. We identified heterozygous pathogenic variants in previously known DBA genes in 16 of 35 families. Seventeen families who underwent genetic analyses are yet to have a genetic cause of disease identified.

Conclusions

Overall, heterozygous pathogenic variants in ribosomal genes were identified in 44 of the 61 families (72%). De novo pathogenic variants were observed in 57% of patients with DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.
Republished: The bumper technique for advancing a large profile microcatheter
Authors: Kellner Christopher P , Chartrain Alexander G , Schwegel Claire , Oxley Thomas J , Shoirah Hazem , Mocco J
Published: March 2017

Operators commonly encounter difficulty maneuvering a microcatheter beyond the distal lip of wide neck aneurysms and aneurysms in challenging locations. Few techniques have been described to guide operators in these particular situations. In this case report of a 56-year-old woman with a 16 mm ophthalmic artery aneurysm, the microcatheter continually snagged the distal aneurysm lip, preventing delivery of a flow diverter into the distal parent vessel. In troubleshooting this obstacle, a second microguidewire was introduced alongside the microcatheter and was used to cover the distal lip of the aneurysm to prevent further snagging. The second guidewire successfully deflected the microcatheter into the distal vessel, a technique that we have aptly dubbed the ‘bumper technique’.
Specialist intervention is associated with improved patient outcomes in patients with decompensated heart failure: evaluation of the impact of a multidisciplinary inpatient heart failure team
Authors: Masters Jayne , Morton Geraint , Anton Isabel , Szymanski Jane , Greenwood Elizabeth , Grogono Joanna , Flett Andrew S , Cleland John G F , Cowburn Peter J
Published: March 2017

Objective

The study aimed to evaluate the impact of a multidisciplinary inpatient heart failure team (HFT) on treatment, hospital readmissions and mortality of patients with decompensated heart failure (HF).

Methods

A retrospective service evaluation was undertaken in a UK tertiary centre university hospital comparing 196 patients admitted with HF in the 6 months prior to the introduction of the HFT (pre-HFT) with all 211 patients seen by the HFT (post-HFT) during its first operational year.

Results

There were no significant differences in patient baseline characteristics between the groups. Inpatient mortality (22% pre-HFT vs 6% post-HFT; p<0.0001) and 1-year mortality (43% pre-HFT vs 27% post-HFT; p=0.001) were significantly lower in the post-HFT cohort. Post-HFT patients were significantly more likely to be discharged on loop diuretics (84% vs 98%; p=<0.0001), ACE inhibitors (65% vs 76%; p=0.02), ACE inhibitors and/or angiotensin receptor blockers (83% vs 91%; p=0.02), and mineralocorticoid receptor antagonists (44% vs 68%; p<0.0001) pre-HFT versus post-HFT, respectively. There was no difference in discharge prescription rates of beta-blockers (59% pre-HFT vs 63% post-HFT; p=0.45).

The mean length of stay (17±19 days pre-HFT vs 19±18 days post-HFT; p=0.06), 1-year all-cause readmission rates (46% pre-HFT vs 47% post-HFT; p=0.82) and HF readmission rates (28% pre-HFT vs 20% post-HFT; p=0.09) were not different between the groups.

Conclusions

The introduction of a specialist inpatient HFT was associated with improved patient outcome. Inpatient and 1-year mortality were significantly reduced. Improved use of evidence-based drug therapies, more intensive diuretic use and multidisciplinary care may contribute to these differences in outcome.
Association of genetic variant and platelet function in patients undergoing neuroendovascular stenting
Authors: Li Xin-Gang , Ma Ning , Sun Shu-Sen , Xu Zhe , Li Wei , Wang Yong-Jun , Yang Xin , Miao Zhong-Rong , Zhao Zhi-Gang
Published: March 2017

Introduction

The risk of recurrent ischaemic events is related to platelet function, which is often assessed by thromboelastography (TEG). TEG has high interindividual variability.

Objective

To identify causal variants associated with TEG parameters in patients who receive aspirin and clopidogrel after intra- or extracranial stenting.

Methods

Patients who underwent stenting for extracranial or intracranial stenosis (70–99%) were recruited into the study. Blood samples were obtained for TEG to assess the platelet function before stenting. Aspirin- and clopidogrel-related genetic polymorphisms were determined by the MassARRAY method. Minor allele frequency and Hardy–Weinberg equilibrium (HWE) tests and linkage disequilibrium (LD) analysis were carried out. The influences of genetic polymorphism on TEG parameters were analysed by linear regression.

Results

A total of 249 patients were included in this study. Twenty-two selected single nucleotide polymorphisms (SNPs) were genotyped, and no significant deviation from HWE was found for any SNP in the study patients. Four SNPs—rs2104543, rs12772169, rs1998591 and rs1042194—within CYP2C18 were in high LD, and the genetic polymorphisms had a significant impact on the TEG parameters maximal clot strength (MAThrombin) and ADP-induced platelet–fibrin clot strength (MAADP). Patients who carried the loss-of-function CYP2C19*2 (rs4244285) allele were also at risk of increased MAThrombin and MAADP.

Conclusions

Testing for these polymorphisms may be valuable in the identification of patients at high risk of recurrent ischaemic events. Alternative treatments may be considered for these high-risk patients.

Trial registration number

NCT01925872
Binary cluster model calculations for 20Ne and 44Ti nuclei
Authors: Koyuncu F. , Soylu A. , Bayrak O.
Published: March 2017

The elastic scattering data of [Formula: see text] and [Formula: see text] systems at [Formula: see text] = 32.2–146 MeV and [Formula: see text] = 24.1–49.5 MeV energies have been analyzed with double-folding (DF) potential in optical model formalism in order to investigate the cluster structures of [Formula: see text]Ne and [Formula: see text]Ti nuclei. The deduced DF potentials between [Formula: see text] and [Formula: see text]O as well as [Formula: see text] and [Formula: see text]Ca have been used for obtaining the excitation energies and [Formula: see text]-decay widths of [Formula: see text]Ne and [Formula: see text]Ti in Gamow code, but the reasonable results could not be obtained. Thus, the real parts of DF potentials which are in the best agreement with experimental data have been fitted with the squared-Woods–Saxon (WS2) potential parameters to calculate the [Formula: see text]-decay widths of [Formula: see text]Ne and [Formula: see text]Ti with Wentzel–Kramers–Brillouin (WKB) approach. The nuclear potential sets obtained in WKB calculations are also used for Gamow code calculations. We take into account the deformation and orientation of [Formula: see text]Ca nucleus to examine their influence on both the excitation energies and decay widths of [Formula: see text]Ti. Besides, by using the binary cluster model the rotational band energies and electromagnetic transition probabilities (BE2)s according to angles are also reproduced for both nuclei. The obtained results showed that the binary cluster model is very useful to understand the observables of [Formula: see text]Ne and [Formula: see text]Ti nuclei. Although only spherical calculations are made for [Formula: see text]Ne ([Formula: see text] + [Formula: see text]O), the deformation in [Formula: see text]Ca would be important for the understanding of [Formula: see text]Ti ([Formula: see text] + [Formula: see text]Ca) cluster structure. The mechanism presented here would also be applied to understand the cluster structures in heavy nuclei.
Vehicle Detection Technology Based on Cascading Classifiers of Multi-Feature Integration
Authors: Hu Xinyu , Ye Xuhui , Zhang Daode , Wu Liangyi
Published: March 2017

Vehicle detection, as an important technology for urban intelligent transportation system, is having attracted increasingly interests of researchers in recent years. For the time cost problem of traditional road vehicles testing approach, a moving region extraction method based on Gaussian model is used to reduce the scanning area of the window, exclude some background noise and improve test speed. For the problem of traditional single feature, relatively lower detection rate and lack of ability to adapt to complex environment, a method based on the combination of Haar-like and 2bitBP (2bit Binary Pattern) features is adopted. Feature integration method enhances the expression of features. As a result, the improved classification performance of classifiers enables it to be adapted to different traffic environment. Firstly, a Gaussian mixture model is established to detect moving targets in overall region and then the Haar-like and 2bitBP features extraction are carried out in the region. At the end the action of cascading classification on samples achieve the detection of moving vehicles. The experimental results show that the method is effective for vehicle detection.
Passive and Active Control Strategies of a Leg Rehabilitation Exoskeleton Powered by Pneumatic Artificial Muscles
Authors: Su Chen , Chai Ao , Tu Xikai , Zhou Hongyu , Wang Haiqiang , Zheng Zufang , Cao Jingyan , He Jiping
Published: March 2017

Nerve injury can cause lower limb paralysis and gait disorder. Currently lower limb rehabilitation exoskeleton robots used in the hospitals need more power to correct abnormal motor patterns of stroke patients’ legs. These gait rehabilitation robots are powered by cumbersome and bulky electric motors, which provides a poor user experience. A newly developed gait rehabilitation exoskeleton robot actuated by low-cost and lightweight pneumatic artificial muscles (PAMs) is presented in this research. A model-free proxy-based sliding mode control (PSMC) strategy and a model-based chattering mitigation robust variable control (CRVC) strategy were developed and first applied in rehabilitation trainings, respectively. As the dynamic response of PAM due to the compressed air is low, an innovative intention identification control strategy was taken in active trainings by the use of the subject’s intention indirectly through the estimation of the interaction force between the subject’s leg and the exoskeleton. The proposed intention identification strategy was verified by treadmill-based gait training experiments.
Inferring interaction rules from observations of evolutive systems I: The variational approach
Authors: Bongini Mattia , Fornasier Massimo , Hansen Markus , Maggioni Mauro
Published: March 2017

In this paper, we are concerned with the learnability of nonlocal interaction kernels for first-order systems modeling certain social interactions, from observations of realizations of their dynamics. This paper is the first of a series on learnability of nonlocal interaction kernels and presents a variational approach to the problem. In particular, we assume here that the kernel to be learned is bounded and locally Lipschitz continuous and that the initial conditions of the systems are drawn identically and independently at random according to a given initial probability distribution. Then the minimization over a rather arbitrary sequence of (finite-dimensional) subspaces of a least square functional measuring the discrepancy from observed trajectories produces uniform approximations to the kernel on compact sets. The convergence result is obtained by combining mean-field limits, transport methods, and a [Formula: see text]-convergence argument. A crucial condition for the learnability is a certain coercivity property of the least square functional, defined by the majorization of an [Formula: see text]-norm discrepancy to the kernel with respect to a probability measure, depending on the given initial probability distribution by suitable push forwards and transport maps. We illustrate the convergence result by means of several numerical experiments.
Multilevel higher-order quasi-Monte Carlo Bayesian estimation
Authors: Dick Josef , Gantner Robert N. , Le Gia Quoc T. , Schwab Christoph
Published: March 2017

We propose and analyze deterministic multilevel (ML) approximations for Bayesian inversion of operator equations with uncertain distributed parameters, subject to additive Gaussian measurement data. The algorithms use a ML approach based on deterministic, higher-order quasi-Monte Carlo (HoQMC) quadrature for approximating the high-dimensional expectations, which arise in the Bayesian estimators, and a Petrov–Galerkin (PG) method for approximating the solution to the underlying partial differential equation (PDE). This extends the previous single-level (SL) approach from [J. Dick, R. N. Gantner, Q. T. Le Gia and Ch. Schwab, Higher order quasi-Monte Carlo integration for Bayesian estimation, Report 2016-13, Seminar for Applied Mathematics, ETH Zürich (in review)]. Compared to the SL approach, the present convergence analysis of the ML method requires stronger assumptions on holomorphy and regularity of the countably-parametric uncertainty-to-observation maps of the forward problem. As in the SL case and in the affine-parametric case analyzed in [J. Dick, F. Y. Kuo, Q. T. Le Gia and Ch. Schwab, Multi-level higher order QMC Galerkin discretization for affine parametric operator equations, SIAM J. Numer. Anal. 54 (2016) 2541–2568], we obtain sufficient conditions which allow us to achieve arbitrarily high, algebraic convergence rates in terms of work, which are independent of the dimension of the parameter space. The convergence rates are limited only by the spatial regularity of the forward problem, the discretization order achieved by the PG discretization, and by the sparsity of the uncertainty parametrization. We provide detailed numerical experiments for linear elliptic problems in two space dimensions, with [Formula: see text] parameters characterizing the uncertain input, confirming the theory and showing that the ML HoQMC algorithms can outperform, in terms of error versus computational work, both multilevel Monte Carlo (MLMC) methods and SL HoQMC methods, provided the parametric solution maps of the forward problems afford sufficient smoothness and sparsity of the high-dimensional parameter spaces.
EFFECT OF Mg AND TEMPERATURE ON Fe–Al ALLOY LAYER IN Fe/(Zn–6%Al–x%Mg) SOLID–LIQUID DIFFUSION COUPLES
Authors: LIANG LIU , LIU YA-LING , LIU YA , PENG HAO-PING , WANG JIAN-HUA , SU XU-PING
Published: March 2017

Fe/(Zn–6%Al–[Formula: see text]%Mg) solid–liquid diffusion couples were kept at various temperatures for different periods of time to investigate the formation and growth of the Fe–Al alloy layer. Scanning electron microscopy (SEM), energy dispersive spectrometry (EDS) and X-ray diffraction (XRD) were used to study the constituents and morphology of the Fe–Al alloy layer. It was found that the Fe2Al5Znxphase layer forms close to the iron sheet and the FeAl3Znxphase layer forms near the side of the melted Zn–6%Al–3%Mg in diffusion couples. When the Fe/(Zn–6%Al–3%Mg) diffusion couple is kept at 510[Formula: see text]C for more than 15[Formula: see text]min, a continuous Fe–Al alloy layer is formed on the interface of the diffusion couple. Among all Fe/(Zn–6%Al–[Formula: see text]%Mg) solid–liquid diffusion couples, the Fe–Al alloy layer on the interface of the Fe/(Zn–6% Al–3% Mg) diffusion couple is the thinnest. The Fe–Al alloy layer forms only when the diffusion temperature is above 475[Formula: see text]. These results show that the Fe–Al alloy layer in Fe/(Zn–6%Al–[Formula: see text]%Mg) solid–liquid diffusion couples is composed of Fe2Al5Znxand FeAl3Znxphase layers. Increasing the diffusing temperature and time period would promote the formation and growth of the Fe–Al alloy layer. When the Mg content in the Fe/(Zn–6%Al–[Formula: see text]%Mg) diffusion couples is 3%, the growth of the Fe–Al alloy layer is inhibited. These results may explain why there is no obvious Fe–Al alloy layer formed on the interface of steel with a Zn–6%Al–3%Mg coating.
A New Trend-Following Indicator: Using SSA to Design Trading Rules
Authors: Leles Michel Carlo Rodrigues , Mozelli Leonardo Amaral , Guimarães Homero Nogueira
Published: March 2017

Singular Spectrum Analysis (SSA) is a non-parametric approach that can be used to decompose a time-series as trends, oscillations and noise. Trend-following strategies rely on the principle that financial markets move in trends for an extended period of time. Moving Averages (MAs) are the standard indicator to design such strategies. In this study, SSA is used as an alternative method to enhance trend resolution in comparison with the traditional MA. New trading rules using SSA as indicator are proposed. This paper shows that for the Down Jones Industrial Average (DJIA) and Shangai Securities Composite Index (SSCI) time-series the SSA trading rules provided, in general, better results in comparison to MA trading rules.
The zero-divisor graph of a ring with involution
Authors: Patil Avinash , Waphare B. N.
Published: March 2017

For a *-ring [Formula: see text], we associate a simple undirected graph [Formula: see text] having all nonzero left zero-divisors of [Formula: see text] as vertices and, two vertices [Formula: see text] and [Formula: see text] are adjacent if [Formula: see text]. In case of Artinian *-rings and Rickart *-rings, characterizations are obtained for those *-rings having [Formula: see text] a complete graph or a star graph, and sufficient conditions are obtained for [Formula: see text] to be connected and also for [Formula: see text] to be disconnected. For a Rickart *-ring [Formula: see text], we characterize the girth of [Formula: see text] and prove a sort of Beck’s conjecture.
On associative representations of non-associative algebras
Authors: Kornev A. I. , Shestakov I. P.
Published: March 2017

We define a notion of associative representation for algebras. We prove the existence of faithful associative representations for any alternative, Mal’cev, and Poisson algebra, and prove analogs of Ado-Iwasawa theorem for each of these cases. We construct also an explicit associative representation of the Cayley–Dickson algebra in the matrix algebra [Formula: see text]