bluuebunny/crossref_metadata_2025 huggingface dataset:
Multi-mode biodegradable tumour-microenvironment sensitive nanoparticles for targeted breast cancer imaging
Authors: Nie Zhenhui , Luo Ningbin , Liu Junjie , Zeng Xinyi , Zhang Yu , Su Danke
Published: April 2020

Gas-filled ultrasound (US) contrast agents easily collapse in the body, and the gas can easily overflow, which limits the effectiveness of US imaging. To address this issue, an injectable gas-generating multi-mode system was developed that carries the MR negative contrast agent Fe3O4, the fluorescent dye Cy5.5, and the CO2 releasing donor (Na2CO3). The nanoparticles can continuously generate carbon dioxide (CO2) gas in acidic tumour tissue in the body, giving the tumour a strong echo signal under ultrasonic imaging. In addition, the nanoparticles confer excellent effects for MR and fluorescence imaging of the tumour tissue. The results indicate that this pH-responsive NP system provides good effects in MR/US/fluorescent imaging. This study provides a useful reference for multi-mode tumour imaging.
SWIFTCORE: a tool for the context-specific reconstruction of genome-scale metabolic networks
Authors: Tefagh Mojtaba , Boyd Stephen P.
Published: April 2020

Background

High-throughput omics technologies have enabled the comprehensive reconstructions of genome-scale metabolic networks for many organisms. However, only a subset of reactions is active in each cell which differs from tissue to tissue or from patient to patient. Reconstructing a subnetwork of the generic metabolic network from a provided set of context-specific active reactions is a demanding computational task.

Results

We propose swiftcc and swiftcore as effective methods for flux consistency checking and the context-specific reconstruction of genome-scale metabolic networks which consistently outperform the previous approaches.

Conclusions

We have derived an approximate greedy algorithm which efficiently scales to increasingly large metabolic networks. swiftcore is freely available for non-commercial use in the GitHub repository at https://mtefagh.github.io/swiftcore/.
TarPan: an easily adaptable targeted sequencing panel viewer for research and clinical use
Authors: Ashby Cody , Rutherford Michael , Bauer Michael A. , Peterson Erich A. , Wang Yan , Boyle Eileen M. , Wardell Christopher P. , Walker Brian A.
Published: April 2020

Background

The study of cancer genomics continually matures as the number of patient samples sequenced increases. As more data is generated, oncogenic drivers for specific cancer types are discovered along with their associated risks. This in turn leads to potential treatment strategies that pave the way to precision medicine. However, significant financial and analytical barriers make it infeasible to sequence the entire genome of every patient. In contrast, targeted sequencing panels give reliable information on relevant portions of the genome at a fiscally responsible cost. Therefore, we have created the Targeted Panel (TarPan) Viewer, a software tool, to investigate this type of data.

Results

TarPan Viewer helps investigators understand data from targeted sequencing data by displaying the information through a web browser interface. Through this interface, investigators can easily observe copy number changes, mutations, and structural events in cancer samples. The viewer runs in R Shiny with a robust SQLite backend and its input is generated from bioinformatic algorithms reliably described in the literature. Here we show the results from using TarPan Viewer on publicly available follicular lymphoma, breast cancer, and multiple myeloma data. In addition, we have tested and utilized the viewer internally, and this data has been used in high-impact peer-reviewed publications.

Conclusions

We have designed a flexible, simple to setup viewer that is easily adaptable to any type of cancer targeted sequencing, and has already proven its use in a research laboratory environment. Further, we believe with deeper sequencing and/or more targeted application it could be of use in the clinic in conjunction with an appropriate targeted sequencing panel as a cost-effective diagnostic test, especially in cancers such as acute leukemia or diffuse large B-cell lymphoma that require rapid interventions.
Being red, blue and green: the genetic basis of coloration differences in the strawberry poison frog (Oophaga pumilio)
Authors: Rodríguez Ariel , Mundy Nicholas I. , Ibáñez Roberto , Pröhl Heike
Published: April 2020

Background

Animal coloration is usually an adaptive attribute, under strong local selection pressures and often diversified among species or populations. The strawberry poison frog (Oophaga pumilio) shows an impressive array of color morphs across its distribution in Central America. Here we quantify gene expression and genetic variation to identify candidate genes involved in generating divergence in coloration between populations of red, green and blue O. pumilio from the Bocas del Toro archipelago in Panama.

Results

We generated a high quality non-redundant reference transcriptome by mapping the products of genome-guided and de novo transcriptome assemblies onto a re-scaffolded draft genome of O. pumilio. We then measured gene expression in individuals of the three color phenotypes and identified color-associated candidate genes by comparing differential expression results against a list of a priori gene sets for five different functional categories of coloration – pteridine synthesis, carotenoid synthesis, melanin synthesis, iridophore pathways (structural coloration), and chromatophore development. We found 68 candidate coloration loci with significant expression differences among the color phenotypes. Notable upregulated examples include pteridine synthesis genes spr, xdh and pts (in red and green frogs); carotenoid metabolism genes bco2 (in blue frogs), scarb1 (in red frogs), and guanine metabolism gene psat1 (in blue frogs). We detected significantly higher expression of the pteridine synthesis gene set in red and green frogs versus blue frogs. In addition to gene expression differences, we identified 370 outlier SNPs on 162 annotated genes showing signatures of diversifying selection, including eight pigmentation-associated genes.

Conclusions

Gene expression in the skin of the three populations of frogs with differing coloration is highly divergent. The strong signal of differential expression in pteridine genes is consistent with a major role of these genes in generating the coloration differences among the three morphs. However, the finding of differentially expressed genes across pathways and functional categories suggests that multiple mechanisms are responsible for the coloration differences, likely involving both pigmentary and structural coloration. In addition to regulatory differences, we found potential evidence of differential selection acting at the protein sequence level in several color-associated loci, which could contribute to the color polymorphism.
Genomic characterization of an emerging Enterobacteriaceae species: the first case of co-infection with a typical pathogen in a human patient
Authors: Zhang Zhao , Li Daixi , Shi Xing , Zhai Yao , Guo Yatao , Zheng Yali , Zhao Lili , He Yukun , Chen Yusheng , Wang Zhanwei , Su Jianrong , Kang Yu , Gao Zhancheng
Published: April 2020

Background

Opportunistic pathogens are important for clinical practice as they often cause antibiotic-resistant infections. However, little is documented for many emerging opportunistic pathogens and their biological characteristics. Here, we isolated a strain of extended-spectrum β-lactamase-producing Enterobacteriaceae from a patient with a biliary tract infection. We explored the biological and genomic characteristics of this strain to provide new evidence and detailed information for opportunistic pathogens about the co-infection they may cause.

Results

The isolate grew very slowly but conferred strong protection for the co-infected cephalosporin-sensitive Klebsiella pneumoniae. As the initial laboratory testing failed to identify the taxonomy of the strain, great perplexity was caused in the etiological diagnosis and anti-infection treatment for the patient. Rigorous sequencing efforts achieved the complete genome sequence of the isolate which we designated as AF18. AF18 is phylogenetically close to a few strains isolated from soil, clinical sewage, and patients, forming a novel species together, while the taxonomic nomenclature of which is still under discussion. And this is the first report of human infection of this novel species. Like its relatives, AF18 harbors many genes related to cell mobility, various genes adaptive to both the natural environment and animal host, over 30 mobile genetic elements, and a plasmid bearing blaCTX-M-3 gene, indicating its ability to disseminate antimicrobial-resistant genes from the natural environment to patients. Transcriptome sequencing identified two sRNAs that critically regulate the growth rate of AF18, which could serve as targets for novel antimicrobial strategies.

Conclusions

Our findings imply that AF18 and its species are not only infection-relevant but also potential disseminators of antibiotic resistance genes, which highlights the need for continuous monitoring for this novel species and efforts to develop treatment strategies.
Difference in virulence between Neisseria meningitidis serogroups W and Y in transgenic mice
Authors: Eriksson Lorraine , Stenmark Bianca , Deghmane Ala-Eddine , Thulin Hedberg Sara , Säll Olof , Fredlund Hans , Mölling Paula , Taha Muhamed-Kheir
Published: April 2020

Background

Neisseria meningitidis serogroups W and Y are the most common serogroups causing invasive meningococcal disease in Sweden. The majority of cases are caused by the serogroup W UK 2013 strain of clonal complex (cc) 11, and subtype 1 of the serogroup Y, YI strain of cc23. In this study, virulence factors of several lineages within cc11 and cc23 were investigated in transgenic BALB/c mice expressing human transferrin.

Transgenic mice were infected intraperitoneally with serogroup W and Y isolates. Levels of bacteria and the proinflammatory cytokine CXCL1 were determined in blood collected 3 h and 24 h post-infection. Apoptosis was investigated in immune cells from peritoneal washes of infected mice. Adhesion and induction of apoptosis in human epithelial cells were also scored.

Results

The levels of bacteraemia, CXCL1, and apoptosis were higher in serogroup W infected mice than in serogroup Y infected mice. Serogroup W isolates also induced higher levels of apoptosis and adhesion in human epithelial cells. No significant differences were observed between different lineages within cc11 and cc23.

Conclusions

N. meningitidis Serogroup W displayed a higher virulence in vivo in transgenic mice, compared to serogroup Y. This was reflected by higher bacteremia, proinflammatory activity, and ability to induce apoptosis in mouse immune cells and human epithelial cells.
The organ-specific differential roles of rice DXS and DXR, the first two enzymes of the MEP pathway, in carotenoid metabolism in Oryza sativa leaves and seeds
Authors: You MK , Lee YJ , Kim JK , Baek SA , Jeon YA , Lim SH , Ha SH
Published: April 2020

Background

Deoxyxylulose 5-phosphate synthase (DXS) and deoxyxylulose 5-phosphate reductoisomerase (DXR) are the enzymes that catalyze the first two enzyme steps of the methylerythritol 4-phosphate (MEP) pathway to supply the isoprene building-blocks of carotenoids. Plant DXR and DXS enzymes have been reported to function differently depending on the plant species. In this study, the differential roles of riceDXSandDXRgenes in carotenoid metabolism were investigated.

Results

The accumulation of carotenoids in rice seeds co-expressingOsDXS2andstPACwas largely enhanced by 3.4-fold relative to thestPACseeds and 315.3-fold relative to non-transgenic (NT) seeds, while the overexpression of eachOsDXS2orOsDXRcaused no positive effect on the accumulation of either carotenoids or chlorophylls in leaves and seeds, suggesting that OsDXS2 functions as a rate-limiting enzyme supplying IPP/DMAPPs to seed carotenoid metabolism, but OsDXR doesn’t in either leaves or seeds. The expressions ofOsDXS1,OsPSY1,OsPSY2, andOsBCH2genes were upregulated regardless of the reductions of chlorophylls and carotenoids in leaves; however, there was no significant change in the expression of most carotenogenic genes, even though there was a 315.3-fold increase in the amount of carotenoid in rice seeds. These non-proportional expression patterns in leaves and seeds suggest that those metabolic changes of carotenoids were associated with overexpression of theOsDXS2,OsDXRandstPACtransgenes, and the capacities of the intermediate biosynthetic enzymes might be much more important for those metabolic alterations than the transcript levels of intermediate biosynthetic genes are. Taken together, we propose a ‘Three Faucets and Cisterns Model’ about the relationship among the rate-limiting enzymes OsDXSs, OsPSYs, and OsBCHs as a “Faucet”, the biosynthetic capacity of intermediate metabolites as a “Cistern”, and the carotenoid accumulations as the content of “Cistern”.

Conclusion

Our study suggests that OsDXS2 plays an important role as a rate-limiting enzyme supplying IPP/DMAPPs to the seed-carotenoid accumulation, and rice seed carotenoid metabolism could be largely enhanced without any significant transcriptional alteration of carotenogenic genes. Finally, the “Three Faucets and Cisterns model” presents the extenuating circumstance to elucidate rice seed carotenoid metabolism.
High abundance of Ralstonia solanacearum changed tomato rhizosphere microbiome and metabolome
Authors: Wen Tao , Zhao Mengli , Liu Ting , Huang Qiwei , Yuan Jun , Shen Qirong
Published: April 2020

Background

Rhizosphere microbiome is dynamic and influenced by environment factors surrounded including pathogen invasion. We studied the effects of Ralstonia solanacearum pathogen abundance on rhizosphere microbiome and metabolome by using high throughput sequencing and GC-MS technology.

Results

There is significant difference between two rhizosphere bacterial communities of higher or lower pathogen abundance, and this difference of microbiomes was significant even ignoring the existence of pathogen. Higher pathogen abundance decreased the alpha diversity of rhizosphere bacterial community as well as connections in co-occurrence networks. Several bacterial groups such as Bacillus and Chitinophaga were negatively related to the pathogen abundance. The GC-MS analysis revealed significantly different metabolomes in two groups of rhizosphere soils, i.e., the rhizosphere soil of lower harbored more sugars such as fructose, sucrose and melibiose than that in high pathogen abundance.

Conclusions

The dissimilar metabolomes in two rhizosphere soils likely explained the difference of bacterial communities with Mantel test. Bacillus and Chitinophaga as well as sugar compounds negatively correlated with high abundance of pathogen indicated their potential biocontrol ability.
Molecular cytogenetic characterization of a novel wheat–Psathyrostachys huashanica Keng T3DS-5NsL•5NsS and T5DL-3DS•3DL dual translocation line with powdery mildew resistance
Authors: Li Jiachuang , Zhao Li , Cheng Xueni , Bai Guihua , Li Mao , Wu Jun , Yang Qunhui , Chen Xinhong , Yang Zujun , Zhao Jixin
Published: April 2020

Background

Psathyrostachys huashanica Keng (2n = 2x = 14, NsNs) carries many outstanding agronomic traits, therefore is a valuable resource for wheat genetic improvement. Wheat–P. huashanica translocation lines are important intermediate materials for wheat breeding and studying the functions of alien chromosomes. However, powdery mildew resistance in these translocation lines has not been reported previously.

Results

This study developed a novel wheat–P. huashanica translocation line TR77 by selecting a F7 progeny from the cross between heptaploid hybrid H8911 (2n = 7x = 49, AABBDDNs) and durum wheat line Trs-372. Chromosome karyotype of 2n = 42 = 21II was observed in both mitotic and meiotic stages of TR77. Genomic in situ hybridization analysis identified two translocated chromosomes that paired normally at meiosis stage in TR77. Molecular marker analysis showed that part of chromosome 5D was replaced by part of alien chromosome fragment 5Ns. It meant replacement made part 5DL and part 5NsL·5NsS existed in wheat background, and then translocation happened between these chromosomes and wheat 3D chromosome. Fluorescence in situ hybridization demonstrated that TR77 carries dual translocations: T3DS-5NsL·5NsS and T5DL-3DS·3DL. Analysis using a 15 K-wheat-SNP chip confirmed that SNP genotypes on the 5D chromosome of TR77 matched well with these of P. huashanica, but poorly with common wheat line 7182. The translocation was physically located between 202.3 and 213.1 Mb in 5D. TR77 showed longer spikes, more kernels per spike, and much better powdery mildew resistance than its wheat parents: common wheat line 7182 and durum wheat line Trs-372.

Conclusions

TR77 is a novel stable wheat–P. huashanica T3DS-5NsL·5NsS and T5DL-3DS·3DL dual translocation line and showed significant improved spike traits and resistance to powdery mildew compared to its parents, thus, it can be an useful germplasm for breeding disease resistance and studying the genetic mechanism of dual translocations.
Modelling seizure rates rather than time to an event within clinical trials of antiepileptic drugs
Authors: Bonnett Laura J. , Hutton Jane L. , Marson Anthony G.
Published: April 2020

Background

Predictive models within epilepsy are frequently developed via Cox’s proportional hazards models. These models estimate risk of a specified event such as 12-month remission. They are relatively simple to produce, have familiar output, and are useful to answer questions about short-term prognosis. However, the Cox model only considers time to first event rather than all seizures after starting treatment for example. This makes assessing change in seizure rates over time difficult. Variants to the Cox model exist enabling recurrent events to be modelled. One such variant is the Prentice, Williams and Peterson – Total Time (PWP-TT) model. An alternative is the negative binomial model for event counts. This study aims to demonstrate the differences between the three approaches, and to consider the benefits of the PWP-TT approach for assessing change in seizure rates over time.

Methods

Time to 12-month remission and time to first seizure after randomisation were modelled using the Cox model. Risk of seizure recurrence was modelled using the PWP-TT model, including all seizures across the whole follow-up period. Seizure counts were modelled using negative binomial regression. Differences between the approaches were demonstrated using participants recruited to the UK-based multi-centre Standard versus New Antiepileptic Drug (SANAD) study.

Results

Results from the PWP-TT model were similar to those from the conventional Cox and negative binomial models. In general, the direction of effect was consistent although the variables included in the models and the significance of the predictors varied. The confidence intervals obtained via the PWP-TT model tended to be narrower due to the increase in statistical power of the model.

Conclusions

The Cox model is useful for determining the initial response to treatment and potentially informing when the next intervention may be required. The negative binomial model is useful for modelling event counts. The PWP-TT model extends the Cox model to all included events. This is useful in determining the longer-term effects of treatment policy. Such a model should be considered when designing future clinical trials in medical conditions typified by recurrent events to improve efficiency and statistical power as well as providing evidence regarding changes in event rates over time.
The Enhanced Liver Fibrosis test is associated with liver-related outcomes in postmenopausal women with risk factors for liver disease
Authors: Trembling Paul M. , Apostolidou Sophia , Gentry-Maharaj Aleksandra , Parkes Julie , Ryan Andy , Tanwar Sudeep , Burnell Matthew , Harris Scott , Menon Usha , Rosenberg William M.
Published: April 2020

Background

Chronic liver disease (CLD) is usually asymptomatic but earlier detection is critical to permit life-saving interventions for those at risk due to high alcohol consumption and increased body mass index (BMI). The aim of this study was to estimate the association between the Enhanced Liver Fibrosis (ELF) test and liver-related events (LRE) and its performance in predicting LRE in postmenopausal women with risk factors in a nested case-control study within the United Kingdom Trial of Ovarian Cancer Screening (UKCTOCS).

Methods

In a cohort of 95,126 we performed a case-control study measuring ELF in blinded samples from 173 participants with self-reported high alcohol use and / or BMI ≥25 kg/m2 comprising all 58 cases who developed LRE and 115 controls matched for age, alcohol and BMI who did not develop LRE during median follow-up of 8.5 years.

Results

Using Cox regression at an ELF threshold of 10.51 hazard ratios (HR) for LRE were 4.88 (95% confidence interval (CI) 2.37–10.03) (unadjusted model) and 4.62 (95% CI 2.12–10.08) (adjusted for deprivation and self-reported hypertension, heart disease, hypercholesterolaemia and diabetes). At a threshold of 9.8 HR for LRE were 2.21 (95% CI 1.22–3.97) (unadjusted model) and 2.18 (95% CI 1.19–4.01) (adjusted). ELF was evaluated as a time dependent variable by generating time-dependent Cox models; HRs at an ELF threshold of 10.51 were 1.94 (95% CI 1.10–3.39) (unadjusted) and 2.05 (95% CI 1.16–3.64) (adjusted) and at a threshold of 9.8 HRs were 1.85 (95% CI 1.09–3.15) (unadjusted) and 1.80 (95% CI 1.04–3.13) (adjusted). Area under the receiver operating characteristic curve for recruitment ELF predicting LRE was 0.58 (95% CI 0.49–0.68), and for second subsequent ELF 0.61 (95% CI 0.52–0.71).

Conclusion

This study demonstrates the association between ELF and CLD in postmenopausal women with risk factors for liver disease, creating the opportunity to intervene to reduce liver-related mortality and morbidity. Although larger studies are required, these results demonstrate the potential of ELF as a prognostic tool in health checks in primary care.

Trial registration

This study is nested in UKCTOCS. UKCTOCS is registered as an International Standard Randomised Controlled Trial, number ISRCTN22488978. Registered 06/04/2000.
Gastroesophageal reflux disease in a typical African population: a symptom-based multicenter study
Authors: Nwokediuko Sylvester Chuks , Adekanle Olusegun , Akere Adegboyega , Olokoba Abdulfatai , Anyanechi Chiedozie , Umar Sabo Mustapha , Maiyaki Abubakar , Ijoma Uchenna , Obienu Olive , Uhunmwangho Augustine , Ndububa Dennis
Published: April 2020

Background

The prevalence of gastroesophageal reflux disease (GERD) in Africa is not known but is believed to be increasing because of demographic and epidemiologic transition. The main objectives of this study were to determine the prevalence and risk factors of GERD, and its degree of overlap with dyspepsia and irritable bowel syndrome (IBS) in Nigeria, a typical African population.

Methods

This was an observational, cross-sectional and descriptive study of adult Nigerians. Diagnosis of GERD was by means of the gastroesophageal reflux disease questionnaire (GERDQ) while the diagnosis of dyspepsia and IBS was based on the Rome III criteria for the diagnosis of functional gastrointestinal disorders. The GERDQ and Rome III questionnaires for dyspepsia and IBS were merged into a composite questionnaire and administered to the study participants who were recruited with a multi-stage sampling technique.

Results

Out of 3520 subjects who participated in the study across the country, 269 (7.6%) satisfied the diagnostic criteria for GERD, while 107 (3.0%) had GERD associated with significant impairment of quality of life. Risk factors of GERD (represented by odds ratios) were age 1.014(95% CI: 1.006–1.022), use of analgesics 1.461 (95% CI: 1.060–2.025), and use of herbs 1.318 (95% CI: 1.020–1.704). Overlap of GERD with dyspepsia and/or IBS was observed in over 50% of cases.

Conclusions

The prevalence of GERD in this study is 7.6%. Age, use of analgesics and use of herbs increase the risk, albeit minimally. A high degree of overlap with dyspepsia and IBS exists in Nigerian patients with GERD.
Pancreaticoduodenectomy for a primary duodenal capicua transcriptional repressor (CIC) -rearranged sarcoma with severe bleeding: a case report
Authors: Aoki Yuichi , Oshiro Hisashi , Yoshida Akihiko , Morishima Kazue , Miki Atsushi , Sasanuma Hideki , Sakuma Yasunaru , Lefor Alan Kawarai , Sata Naohiro
Published: April 2020

Background

Capicua transcriptional repressor (CIC) -rearranged sarcoma is characterized by small round cells, histologically similar to Ewing sarcoma. However, CIC-rearranged sarcoma has different clinical, histological, and immunohistochemical features from Ewing sarcoma. It is important to differentiate between these tumors.

Case presentation

The patient is a 44-year-old man with a duodenal tumor diagnosed in another hospital who presented with a history of melena. Laboratory studies showed anemia with a serum hemoglobin of 6.0 g/dL. He was hospitalized and gastrointestinal bleeding was controlled successfully with endoscopy. However, he suffered from appetite loss and vomiting and progression of anemia a few weeks after presentation. Upper gastrointestinal endoscopy showed a circumferential soft tumor in the second portion of the duodenum and the endoscope could not pass distally. Computed tomography scan showed a greater than 10 cm tumor in the duodenum, with compression of the inferior vena cava and infiltrating the ascending colon. A definitive pathologic diagnosis could not be established despite four biopsies from the tumor edge. Due to gastrointestinal obstruction and progression of anemia, a pylorus-preserving pancreaticoduodenectomy with partial resection of the inferior vena cava and right hemicolectomy was performed as a complete tumor resection. The tumor was diagnosed as a CIC-rearranged sarcoma, but 2 months postoperatively local recurrence and distant metastases to the liver and lung were found. The patient died 3 months after surgery.

Conclusions

Although the only definitive treatment for CIC-rearranged sarcoma is surgical resection, the CIC-rearranged sarcoma is highly malignant with a poor prognosis even after radical resection. More research is needed to establish optimal treatment strategies.
Combined effects of lifestyle risk factors on fatty liver index
Authors: Nivukoski Ulla , Niemelä Markus , Bloigu Aini , Bloigu Risto , Aalto Mauri , Laatikainen Tiina , Niemelä Onni
Published: April 2020

Background

Factors of lifestyle may have a major impact on liver-related morbidity and mortality.

We examined independent and joint effects of lifestyle risk factors on fatty liver index (FLI), a biomarker of hepatic steatosis, in a population-based cross-sectional national health survey.

Methods

The study included 12,368 participants (5784 men, 6584 women) aged 25–74 years. Quantitative estimates of alcohol use, smoking, adiposity and physical activity were used to establish a total score of risk factors, with higher scores indicating an unhealthier lifestyle. FLI was calculated based on an algorithm including body mass index, waist circumference, serum gamma-glutamyltransferase and triglycerides.

Results

The occurrence of FLI ≥ 60% indicating fatty liver increased from 2.4% in men with zero risk factors to 81.9% in those with a total risk score of 7–8 (p <  0.0005 for linear trend) and in women from 0 to 73.5% (p <  0.0005). The most striking individual impacts on the likelihood for FLI above 60% were observed for physical inactivity (p <  0.0005 for both genders) and alcohol consumption (p <  0.0005 for men). Interestingly, coffee consumption was also found to increase with increasing risk factor scores (p <  0.0005 for linear trend in both genders).

Conclusions

The data indicates that unfavorable combinations of lifestyle risk factors lead to a high likelihood of hepatic steatosis. Use of FLI as a diagnostic tool may benefit the assessment of interventions aimed at maintaining a healthy lifestyle and prevention of liver-related morbidity.
The impact of poverty transitions on frailty among older adults in South Korea: findings from the Korean longitudinal study of ageing
Authors: Youn Hin Moi , Lee Hyeon Ji , Lee Doo Woong , Park Eun-Cheol
Published: April 2020

Background

Frailty is an emerging public health concern among aging populations. Although socioeconomic status is a well-known contributor to frailty, there is limited research investigating the effects of poverty on frailty. This study aimed to examine the association between poverty transitions and frailty prevalence in older adults.

Methods

Data were collected from the six-wave Korean Longitudinal Study of Ageing (2006–2016). A total of 9263 middle-aged and older adults were included in the analysis. Poverty was defined as being below 50% of the median household income based on the equivalized household. Frailty was measured using an instrument comprising items on physical phenotype (grip strength) and psychological (exhaustion) and social aspects (isolation). Analyses using generalized estimating equations were conducted to estimate the relationship between poverty transition and frailty status.

Results

Among the 9263 respondents, 9.4% of the male respondents (n = 388) and 13.6% of the female respondents (n = 700) were frail. After controlling for covariates, female participants who transitioned into poverty (OR = 1.31, 95% CI: 1.02–1.69) and persistently remained in poverty (OR = 1.36, 95% CI: 1.10–1.68) showed increased odds of frailty in the follow-up year. We did not find significant results in the male participants.

Conclusions

The findings suggest that those who experience poverty transitions, enter poverty, and remain in poverty persistently are at higher risk of frailty. To improve age-related health status among the elderly, interventions aiming to prevent and reduce frailty among the elderly should target individuals who are more vulnerable to the negative effects of frailty.
Living arrangements and life satisfaction: mediation by social support and meaning in life
Authors: Lin Yan , Xiao Huimin , Lan Xiuyan , Wen Shuangshuang , Bao Shaoshao
Published: April 2020

Background

Living arrangements have impact on life satisfaction among older adults. However, the mechanism how it works has received less attention. This study aims to examine the mediating role of meaning in life and social support in the relationship between living arrangements and life satisfaction.

Methods

A total of 215 older adults from nine nursing homes and three communities were included in this study. The Social Support Rating Scale, Meaning in Life Questionnaire and Life Satisfaction Index A were adopted. Data were analyzed with Hayes’ s bias-corrected bootstrapping method.

Results

Both social support and presence of meaning in life had positive correlations with life satisfaction (p<0.001), and they were significant mediators between living arrangements and life satisfaction (p<0.01).

Conclusion

To improve the life satisfaction of nursing home residents, more emphasis should be placed on encouraging residents to seek or maintain a meaningful life and creating a more positive climate of social support.
The Residential Care Transition Module: a single-blinded randomized controlled evaluation of a telehealth support intervention for family caregivers of persons with dementia living in residential long-term care
Authors: Gaugler Joseph E. , Statz Tamara L. , Birkeland Robyn W. , Louwagie Katie W. , Peterson Colleen M. , Zmora Rachel , Emery Ann , McCarron Hayley R. , Hepburn Kenneth , Whitlatch Carol J. , Mittelman Mary S. , Roth David L.
Published: April 2020

Background

Families do not fully disengage from care responsibilities following relatives’ admissions to residential long-term (RLTC) care settings such as nursing homes. Caregiver stress, depression, or other key outcomes remain stable or sometimes increase following a relative’s RLTC entry. Some interventions have attempted to increase family involvement after institutionalization, but few rigorous studies have demonstrated whether these interventions are effective in helping families navigate the potential emotional and psychological upheaval presented by relatives’ transitions to RLTC environments. The Residential Care Transition Module (RCTM) provides six formal sessions of consultation (one-to-one and family sessions) over a 4-month period to family caregivers who have admitted a relative to a RLTC setting.

Methods

In this embedded mixed methods randomized controlled evaluation, family members who have admitted a cognitively impaired relative to a RLTC setting are randomly assigned to the RCTM (n = 120) or a usual care control condition (n = 120). Primary outcomes include reductions in family members’ primary subjective stress and negative mental health outcomes; secondary role strains; and residential care stress. The mixed methods design will allow for an analysis of intervention action mechanisms by “embedding” qualitative components (up to 30 semi-structured interviews) at the conclusion of the 12-month evaluation.

Discussion

This evaluation will fill an important clinical and research gap by evaluating a psychosocial intervention designed for families following RLTC admission that determines whether and how the RCTM can help families better navigate the emotional and psychological challenges of residential care transitions.

Trial registration

ClinicalTrials.gov(NCT02915939, prospectively registered).
Community perceptions about dementia in southwestern Uganda
Authors: Owokuhaisa Judith , Rukundo Godfrey Zari , Wakida Edith , Obua Celestino , Buss Stephanie S.
Published: April 2020

Background

With the increasing number of people surviving into older age in Africa, dementia is becoming a public health concern. Understanding the social dynamics of dementia in resource-limited settings is critical for developing effective interventions. We explored community perceptions about people with dementia in southwestern Uganda.

Methods

Fifty-nine individuals (aged 19–85 years, 56% female) participated in seven focus group discussions. In addition, 22 individual in-depth interviews were conducted among individuals (aged 22–84 years, 36% female). Both interviews and focus group discussions were audio recorded, transcribed verbatim, and evaluated using a quantitative content analysis approach.

Results

Five themes were generated during content analysis: i) Labeling of the illness, ii) Presentation of the person with dementia, iii) Causation, iv) Impact of the disease on people with dementia and their caregivers and v) Views on how to address unmet needs in dementia care. Dementia was commonly referred to as “okuhuga”or “okwebwayebwa” (also, oruhuzyo/ empugye / akahuriko) which translates as “mental disorientation”. The participants reported that most people with dementia presented with forgetfulness, defecating and urinating on themselves, wandering away from home, going out naked, and picking up garbage. Some participants perceived memory problems as a normal part of the aging process, while others attributed the cause of dementia to syphilis, cancer, allergy, old age, satanic powers, witchcraft, poor nutrition, or life stress. Participants reported multiple sources of stress for caregivers of people with dementia, including financial, social, and emotional burdens. Finally, participants suggested that community and governmental organizations should be involved in meeting the needs of people with dementia and their caregivers.

Conclusions

Community members in southwestern Uganda largely identified dementia as a problem that comes with older age, and can identify key features of dementia presentation. Participants identified significant stressors affecting people with dementia and their caregivers, and reported that families and caregivers would benefit from education on the management of symptoms of dementia, and assistance in overcoming associated financial, social, and emotional burdens related to caretaking.
Burden of fatigue among adults living with HIV/AIDS attending antiretroviral therapy in Ethiopia
Authors: Gebreyesus Tsiwaye , Belay Addisalem , Berhe Gebretsadik , Haile Gebremedhin
Published: April 2020

Background

Fatigue is one of the most common and devastating Human Immuno-deficiency Virus (HIV) - related symptoms, with a varying prevalence in different study areas. In Ethiopia, there is a paucity of information on the magnitude and factors associated with fatigue among HIV/Acquired Immune Deficiency Syndrome (AIDS) patients. This may lead to under-diagnosis and eventually under-management of the symptom.

Methods

Institution based cross-sectional study design was conducted among 609 HIV/AIDS patients who were selected by using a systematic random sampling method. Data were collected by using interviewer administered structured questionnaire. Level of fatigue was measured by Fatigue Severity Scale.

Results

The prevalence of fatigue was found to be 51.7%. The factors associated with fatigue were: Parity [AOR = 2.01; 95% CI: 1.09–3.71], CD4 count 200–499 cells/mm3 [AOR = 2.81; 95% CI: 1.58–4.99], anemia [AOR = 4.90 95% CI: 2.40–9.97], co-morbidities [AOR = 3.65; 95% CI: 1.71–7.78], depression [AOR = 3.68 95% CI: 1.99–6.79], not being physically active [AOR = 3.20 95% CI: 1.50–6.81], clinical stage II or IV HIV [AOR = 3.11; 95% CI: 1.51–6.40] and [AOR = 4.08; 95% CI: 1.37–12.14], respectively.

Conclusion

The finding of this study revealed that fatigue is a common health problem among adult People Living with HIV (PLHIV). Factors associated with fatigue included: Parity, CD4 count 200–499 cells/mm3, Clinical Stage II or IV HIV, anemia, co-morbidities, depression, and not being physically active. The health care service needs to address the predisposing factors by provision integrated care including timely detection and treatment of comorbidities, mental health problems, and promote physical activity to slow down disease progression and then reduce exposure to fatigue.
Detection of viral RNA in diverse body fluids in an SFTS patient with encephalopathy, gastrointestinal bleeding and pneumonia: a case report and literature review
Authors: Akagi Kazumasa , Miyazaki Taiga , Oshima Kazuhiro , Umemura Asuka , Shimada Satoshi , Morita Kouichi , Senju Hiroaki , Tashiro Masato , Takazono Takahiro , Saijo Tomomi , Kurihara Shintaro , Sekino Motohiro , Yamamoto Kazuko , Imamura Yoshifumi , Izumikawa Koichi , Yanagihara Katsunori , Uda Akihiko , Morikawa Shigeru , Yoshikawa Tomoki , Kurosu Takeshi , Shimojima Masayuki , Saijo Masayuki , Mukae Hiroshi
Published: April 2020

Background

Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease that commonly has a lethal course caused by the tick-borne Huaiyangshan banyang virus [former SFTS virus (SFTSV)]. The viral load in various body fluids in SFTS patients and the best infection control measure for SFTS patients have not been fully established.

Case presentation

A 79-year-old man was bitten by a tick while working in the bamboo grove in Nagasaki Prefecture in the southwest part of Japan. Due to the occurrence of impaired consciousness, he was referred to Nagasaki University Hospital for treatment. The serum sample tested positive for SFTSV-RNA in the genome amplification assay, and he was diagnosed with SFTS. Furthermore, SFTSV-RNA was detected from the tick that had bitten the patient. He was treated with multimodal therapy, including platelet transfusion, antimicrobials, antifungals, steroids, and continuous hemodiafiltration. His respiration was assisted with mechanical ventilation. On day 5, taking the day on which he was hospitalized as day 0, serum SFTSV-RNA levels reached a peak and then decreased. However, the cerebrospinal fluid collected on day 13 was positive for SFTSV-RNA. In addition, although serum SFTSV-RNA levels decreased below the detectable level on day 16, he was diagnosed with pneumonia with computed tomography. SFTSV-RNA was detected in the bronchoalveolar lavage fluid on day 21. By day 31, he recovered consciousness completely. The pneumonia improved by day 51, but SFTSV-RNA in the sputum remained positive for approximately 4 months after disease onset. Strict countermeasures against droplet/contact infection were continuously conducted.

Conclusions

Even when SFTSV genome levels become undetectable in the serum of SFTS patients in the convalescent phase, the virus genome remains in body fluids and tissues. It may be possible that body fluids such as respiratory excretions become a source of infection to others; thus, careful infection control management is needed.
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
Authors: Mojbafan Marzieh , Nojehdeh Somayeh Takrim , Rahiminejad Faezeh , Nilipour Yalda , Tonekaboni Seyed Hasan , Zeinali Sirous
Published: April 2020

Background

Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS) technology is the most effective method for identification of pathogenic variants with the ability to overcome some limitations which Sanger sequencing may encountered. There are few reports on this rare disease around the world and here in this study we first revealed genetic identification of two affected individuals in an Iranian family with a novel mutation.

Case presentation

The proband was a 5-year-old girl from consanguenous parents. She was first clinically suspicious of affected with limb-girdle muscular dystrophy (LGMD). Muscle biopsy studies and autozygosity mapping, using four short tandem repeat (STR) markers linked to 6 genes of the most prevalent forms of LGMD, ruled out calpainopathy, dysferlinopathy, and sarcoglycanopathis. DNA sample of the proband was sent for NGS. Whole exome sequencing (WES) revealed a novel mutation c.1295delA in exon 13 of MICU1 gene. This homozygous deletion creates a frameshift and a premature stop codon downstream of canonical EF4 calcium binding motif of MICU1. According to the American College of Medical Genetics and Genomics (ACMG) guidline for sequence interpretation, this variant was a pathogenic one. Sanger sequencing in all family members confirmed the results of the WES.

Conclusions

This study was the first report of MPXPS in Iranian population which also revealed a novel mutation in the MICU1 gene.
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature
Authors: Nishiyama Kei , Kurokawa Mari , Torio Michiko , Sakai Yasunari , Arima Mitsuru , Tsukamoto Shoko , Obata Satoshi , Minamikawa Shogo , Nozu Kandai , Kaku Noriyuki , Maehara Yoshihiko , Sonoda Koh-Hei , Taguchi Tomoaki , Ohga Shouichi
Published: April 2020

Background

Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, whereas the full clinical spectrum of PS in infancy and beyond remains elusive.

Case presentation

We present the case of a 12-month-old boy with PS, manifesting as the bilateral microcoria and congenital nephrotic syndrome. He was born without asphyxia, and was neurologically intact from birth through the neonatal period. Generalized muscle weakness and hypotonia were recognized from 3 months of age. The infant showed recurrent vomiting at age 5 months of age, and was diagnosed with gastroesophageal reflux and intestinal malrotation. Despite the successful surgical treatment, vomiting persisted and led to severely impaired growth. Tulobuterol treatment was effective in reducing the frequency of vomiting. Targeted sequencing confirmed that he had a compound heterozygous mutation in LAMB2 (NM_002292.3: p.Arg550X and p.Glu1507X). A search of the relevant literature identified 19 patients with severe neuro-muscular phenotypes. Among these, only 8 survived the first 12 months of life, and one had feeding difficulty with similar gastrointestinal problems.

Conclusions

This report demonstrated that severe neurological deficits and gastrointestinal dysfunction may emerge in PS patients after the first few months of life.
Adapting wellbeing research tools for Aboriginal and Torres Strait Islander people with chronic kidney disease
Authors: Nagel Tricia , Sweet Michelle , Dingwall Kylie M. , Puszka Stefanie , Hughes Jaquelyne T. , Kavanagh David J. , Cass Alan , Howard Kirsten , Majoni Sandawana W.
Published: April 2020

Background

Chronic kidney disease is an increasingly common health problem for Aboriginal and Torres Strait Islander people. It is associated with multiple concurrent psychosocial stressors frequently resulting in negative impacts on emotional and social wellbeing. There is need for well-designed intervention studies to provide evidence of effective treatment for comorbid depression or other mental illness in this setting. Attention to early phase piloting and development work is recommended when testing complex interventions. This paper documents feasibility testing and adaptation of an existing culturally responsive brief wellbeing intervention, the Stay Strong App, and three commonly used wellbeing outcome measures, in preparation for a clinical trial testing effectiveness of the intervention.

Methods

The Stay Strong App, which has not been used in the setting of Chronic Kidney Disease before, is reviewed and adapted for people with comorbid wellbeing concerns through expert consensus between research team and an Expert Panel. The outcome measures (Kessler 10, Patient Health Questionnaire 9, and EuroQoL) are valid, reliable, and commonly used tools to assess various aspects of wellbeing, which have also not been used in this context before. Feasibility and acceptability are examined and developed through 3 stages: Pilot testing in a purposive sample of five haemodialysis patients and carers; translation of outcome measures through collaboration between the Aboriginal Interpreter Service, Aboriginal and Torres Strait Islander research officers and the research team; and conversion of translated outcome measures to electronic format.

Results

Research team and expert panel consensus led to adaptation of the Stay Strong App for renal patients through selective revision of words and images. Pilot testing identified challenges in delivery of the wellbeing measures leading to word changes and additional prompts, integration of audio translations in 11 local Indigenous languages within an interactive Outcome Measures App, and related research protocol changes.

Conclusion

Modelling the complex intervention prior to full-scale testing provided important information about the design of both the outcome measures and the intervention. These changes are likely to better support success in conduct of the clinical trial and future implementation of the intervention in clinical settings.