bluuebunny/crossref_metadata_2025 huggingface dataset:
Comparative Studies on the Quality and Lycopene Content of Pomelo (Citrus grandis Osbeck) Cultivars
Authors: Yang Hongjuan , Li Min , Kui Xiaohua , Sun Yueting , Li Jian-an , Qiu Dongliang
Published: September 2020

Three cultivars of pomelo “Guanximiyou” (GX) and its variants “Hongroumiyou” (HR) and “Sanhongmiyou” (SH) were selected as experimental materials to evaluate the quality and edible value of the fruit. In this study, the fruit quality and lycopene contents were investigated. The results show that among the 3 cultivars used, the contents of soluble solids, vitamin C, and total phenol in the juice sac of SH were the highest, followed by HR and GX. SH has the largest fruit shape index, soluble sugar content: GX > HR > SH, and titratable acid content: GX < HR < SH. From our findings, the content of lycopene was the highest in SH, followed by HR and GX. SH has the greatest potential for production due to its appreciable content of lycopene and fruit quality.
Feasting Our Eyes on the Candidates: Visual Cues in Televised Debates Prime Personality Traits of Lesser Known Candidates and Promote Learning
Authors: Nina Susana Rogeiro , Santana-Pereira José
Published: September 2020

This article examines how different modes of exposure to debates between presidential candidates affect both the criteria by which they are assessed and levels of learning about politics in an unobtrusive, distant context. In this study, 167 Portuguese undergraduate students were randomly assigned to either watch or listen to one of two 1986 dyadic presidential debates, rate the candidates on a series of items, and answer questions about the contents of the debate. We found that the mode of exposure only affected the assessment criteria of the lesser known presidential candidate. In fact, his personality appraisals carried more weight for viewers than for listeners, while the substantive performance was more important for those who listened to the debate. Although a more confrontational debating style lowered the ratings of the lesser known candidate, this was not conditional to mode of exposure. Moreover, video exposure to the debate resulted in higher levels of learning. In summary, this study supports the assumption that the visual cues in audiovisual formats are major factors of learning and prime personality traits as criteria for the appraisal of (relatively) unknown candidates.
A Social-Belonging Intervention Benefits Higher Weight Students’ Weight Stability and Academic Achievement
Authors: Logel Christine , Le Forestier Joel M. , Witherspoon Eben B. , Fotuhi Omid
Published: September 2020

Psychological interventions can narrow college achievement gaps between students from nonstigmatized and stigmatized groups. However, no intervention we know of has investigated effects for one highly stigmatized group: people of higher bodyweights. We analyzed data from a prematriculation social-belonging intervention trial at 22 colleges, which conveyed that adversity in the college transition is normative, temporary, and nondiagnostic of lack of belonging. Nine months postintervention, higher weight participants in a standard belonging treatment had higher first-year grade point averages (GPAs) than controls and maintained more stable weights, an indicator of physical well-being. Effects of a belonging treatment customized to specific colleges were directionally similar but nonsignificant. Exploratory analyses revealed that effects did not differ by race and that weight effects were driven by women. Together, results show that higher weight students contend with belonging concerns that contribute to a weight gap in GPA, but belonging interventions can raise GPA and promote healthy weight stability.
Physical activity determinants among students based on Pender’s health promotion model constructs: a cross-sectional study using path analysis
Authors: Sabooteh Sahar , Feizi Awat , Shekarchizadeh Parivash , Shahnazi Hossein , Mostafavi Firoozeh
Published: September 2020

Background:

Over recent years, new lifestyles have raised ongoing concerns about the quality of life of students, especially inactivity. The purpose of this study was to determine the factors associated with regular physical activity among students using Pender’s health promotion model.

Methods:

The present cross-sectional correlational study was conducted on 650 students of Isfahan University of Medical Sciences, Iran, who were selected by stratified sampling with probability proportional to size. Data were collected using a three-part questionnaire, including demographic profile, Pender’s health promotion model constructs and the international physical activity questionnaire. The strongest determinants of physical activity were identified using structural equation modeling by Amos software. Data were analysed by SPSS software (16) using chi-square, one-way analysis of variance and Spearman correlation.

Results:

The results showed walking activity in 69.1%, moderate activity in 3.8% and vigorous activity in 27.1%. According to path analysis, perceived barriers were the most efficient predictor of physical activity among students, and Pender’s health promotion model constructs explained 84.9% of physical activity changes.

Conclusion:

The satisfactory predictive value of Pender’s health promotion model constructs for physical activity behaviour focused on effective structures, such as perceived barriers, supports the application of this model to design educational interventions better.
Associations between self-rated physical Health and relationship satisfaction in couples with children
Authors: Baucom Katherine JW , Giresi Jill , Heyman Richard E , Slep Amy M Smith
Published: September 2020

The degree to which individual self-rated physical health and concordance of self-rated physical health between partners are associated with relationship satisfaction was examined in a community sample of 399 couples with children. Couples completed self-report assessments of physical health (general health and physical functioning) and relationship satisfaction. Results suggest unique associations between partners’ general health and their own relationship satisfaction. Further, higher between-partner concordance in physical functioning was uniquely associated with higher relationship satisfaction in women. Understanding associations between health and relationship processes is crucial and has implications for future research on couple-based interventions to promote physical health.
Updating the Secondary Transition Research Base: Evidence- and Research-Based Practices in Functional Skills
Authors: Rowe Dawn A. , Mazzotti Valerie L. , Fowler Catherine H. , Test David W. , Mitchell Vickie J. , Clark Kelly A. , Holzberg Debra , Owens Tosha L. , Rusher Dana , Seaman-Tullis Rachel L. , Gushanas Christina M. , Castle Hannah , Chang Wen-Hsuan , Voggt Ashley , Kwiatek Stephen , Dean Catie
Published: September 2020

Transition education should be grounded in quality research. To do so, educators need information on which practices are effective for teaching students with disabilities transition-related skills. The purpose of this systematic literature review was to identify evidence-based and research-based practices in secondary special education and transition for students with disabilities. This systematic review resulted in the identification of nine secondary transition evidence-based practices and 22 research-based practices across more than 45 different transition-related skills. The range of effects for each of the secondary transition evidence-based and research-based practices identified are also included. Limitations and implications for future research, policy, and practice are discussed.
Estimating Hearing Thresholds From Stimulus-Frequency Otoacoustic Emissions
Authors: Gong Qin , Liu Yin , Peng Zewen
Published: September 2020

It is of clinical interest to estimate pure-tone thresholds from potentially available objective measures, such as stimulus-frequency otoacoustic emissions (SFOAEs). SFOAEs can determine hearing status (normal hearing vs. hearing loss), but few studies have explored their further potential in predicting audiometric thresholds. The current study investigates the ability of SFOAEs to predict hearing thresholds at octave frequencies from 0.5 to 8 kHz. SFOAE input/output functions and pure-tone thresholds were measured from 230 ears with normal hearing and 737 ears with sensorineural hearing loss. Two methods were used to predict hearing thresholds. Method 1 is a linear regression model; Method 2 proposed in this study is a back propagation (BP) network predictor built on the bases of a BP neural network and principal component analysis. In addition, a BP network classifier was built to identify hearing status. Both Methods 1 and 2 were able to predict hearing thresholds from 0.5 to 8 kHz, but Method 2 achieved better performance than Method 1. The BP network classifiers achieved excellent performance in determining the presence or absence of hearing loss at all test frequencies. The results show that SFOAEs are not only able to identify hearing status with great accuracy at all test frequencies but, more importantly, can predict hearing thresholds at octave frequencies from 0.5 to 8 kHz, with best performance at 0.5 to 4 kHz. The BP network predictor is a potential tool for quantitatively predicting hearing thresholds, at least at 0.5 to 4 kHz.
Challenges in the Prenatal Diagnosis of Cloaca
Authors: Shields Lisa B.E. , White Jeffrey T. , Peppas Dennis S. , Rosenberg Eran
Published: September 2020

Background:

Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts.

Methods:

We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios.

Results:

A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca.

Conclusion:

Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.
Contracting-out care: The socio-spatial politics of nursing home care at the intersection of British Columbia’s labor, land, and capital markets
Authors: Ponder CS , Longhurst Andrew , McGregor Margaret
Published: September 2020

The provincial health services labor market was fundamentally altered in 2002 with the introduction of a series of legislative and policy changes enabling the contracting-out, or subcontracting, of care workers in nursing home facilities in order to encourage private sector investment in nursing home infrastructure and provision. This legislation was intended to shrink provincial expenses and replace aging facilities through partnerships with the private sector that would keep debt off provincial books. Through in-depth interviews with front-line workers and provincial and Health Authority administrators, this research foregrounds care as a political relationship by mapping how these legislative changes related to provincial budget concerns splintered a specialized labor market, eroding both working and caring conditions, and exposing eldercare in British Columbia, Canada to the speculative dynamics of finance.
Health Literacy and Recall of Postoperative Instructions in Patients Undergoing the Lapidus Procedure
Authors: Garfinkel Jonathan H. , Hummel Amelia , Day Jonathan , Roney Andrew , Jones Mackenzie , Rosenbaum Andrew , Ellis Scott J.
Published: September 2020

Background:

Active participation in patients’ own care is essential for success after Lapidus procedure. Poor health literacy, comprehension, and retention of patient instructions may be correlated with patient participation. Currently, there is no objective measure of how well patients internalize and retain instructions before and after a Lapidus procedure. We performed this study to assess how much of the information given to patients preoperatively was able to be recalled at the first postoperative visit.

Methods:

All patients between ages 18 and 88 years undergoing a Lapidus procedure for hallux valgus by the senior author between June 2016 and July 2018 were considered eligible for inclusion. Patients were excluded if they had a history of previous bunion surgery or if the procedure was part of a flatfoot reconstruction. Patients were given written and verbal instructions at the preoperative visit. Demographic and comprehension surveys were administered at their first visit approximately 2 weeks postoperatively. A total of 50 patients, of which 42 (84%) were female and 43 (86%) had a bachelor’s degree or higher, were enrolled.

Results:

Mean overall score on the comprehension survey was 6.2/8 (±1.2), mean procedure subscore was 1.8/3 (±0.64), and mean postoperative protocol subscore was 4.4/5 (±0.8). The most frequently missed question asked patients to identify the joint fused in the procedure.

Conclusion:

Although comprehension and retention of instructions given preoperatively was quite high in our well-educated cohort, our findings highlight the importance of delivering clear instructions preoperatively and reinforcing these instructions often.

Level of Evidence:

Level II, prospective cohort study.
Exploring probabilistic seismic risk assessment accounting for seismicity clustering and damage accumulation: Part I. Hazard analysis
Authors: Papadopoulos Athanasios N , Bazzurro Paolo , Marzocchi Warner
Published: September 2020

Probabilistic seismic hazard analysis (PSHA), as a tool to assess the probability that ground motion of a given intensity or larger is experienced at a given site and time span, has historically comprised the basis of both building design codes in earthquake-prone regions and seismic risk models. The PSHA traditionally refers solely to mainshock events and typically employs a homogeneous Poisson process to model their occurrence. Nevertheless, recent disasters, such as the 2010–2011 Christchurch sequence or the 2016 Central Italy earthquakes, to name a few, have highlighted the potential pitfalls of neglecting the occurrence of foreshocks, aftershocks, and other triggered events, and pinpointed the need to revisit the current practice. Herein, we employ the epidemic-type aftershock sequence (ETAS) model to describe seismicity in Central Italy, investigate the model’s capability to reproduce salient features of observed seismicity, and compare ETAS-derived one-year hazard estimates with ones obtained with a standard mainshock-only Poisson-based hazard model. A companion paper uses the hazard models derived herein to compare and contrast loss estimates for the residential exposure of Umbria in Central Italy.
A deconvolution method and its application in analyzing the cellular fractions in acute myeloid leukemia samples
Authors: Li Huamei , Sharma Amit , Ming Wenglong , Sun Xiao , Liu Hongde
Published: September 2020

Background

The identification of cell type-specific genes (markers) is an essential step for the deconvolution of the cellular fractions, primarily, from the gene expression data of a bulk sample. However, the genes with significant changes identified by pair-wise comparisons cannot indeed represent the specificity of gene expression across multiple conditions. In addition, the knowledge about the identification of gene expression markers across multiple conditions is still paucity.

Results

Herein, we developed a hybrid tool, LinDeconSeq, which consists of 1) identifying marker genes using specificity scoring and mutual linearity strategies across any number of cell types, and 2) predicting cellular fractions of bulk samples using weighted robust linear regression with the marker genes identified in the first stage. On multiple publicly available datasets, the marker genes identified by LinDeconSeq demonstrated better accuracy and reproducibility compared to MGFM and RNentropy. Among deconvolution methods, LinDeconSeq showed low average deviations (≤0.0958) and high average Pearson correlations (≥0.8792) between the predicted and actual fractions on the benchmark datasets. Importantly, the cellular fractions predicted by LinDeconSeq appear to be relevant in the diagnosis of acute myeloid leukemia (AML). The distinct cellular fractions in granulocyte-monocyte progenitor (GMP), lymphoid-primed multipotent progenitor (LMPP) and monocytes (MONO) were found to be closely associated with AML compared to the healthy samples. Moreover, the heterogeneity of cellular fractions in AML patients divided these patients into two subgroups, differing in both prognosis and mutation patterns. GMP fraction was the most pronounced between these two subgroups, particularly, in SubgroupA, which was strongly associated with the better AML prognosis and the younger population. Totally, the identification of marker genes by LinDeconSeq represents the improved feature for deconvolution. The data processing strategy with regard to the cellular fractions used in this study also showed potential for the diagnosis and prognosis of diseases.

Conclusions

Taken together, we developed a freely-available and open-source tool LinDeconSeq (https://github.com/lihuamei/LinDeconSeq), which includes marker identification and deconvolution procedures. LinDeconSeq is comparable to other current methods in terms of accuracy when applied to benchmark datasets and has broad application in clinical outcome and disease-specific molecular mechanisms.
Comparative transcriptome analysis revealed the cooperative regulation of sucrose and IAA on adventitious root formation in lotus (Nelumbo nucifera Gaertn)
Authors: libao Cheng , minrong Zhao , Zhubing Hu , huiying Liu , Shuyan Li
Published: September 2020

Background

In China, lotus is an important cultivated crop with multiple applications in ornaments, food, and environmental purification. Adventitious roots (ARs), a secondary root is necessary for the uptake of nutrition and water as the lotus principle root is underdeveloped. Therefore, AR formation in seedlings is very important for lotus breeding due to its effect on plant early growth. As lotus ARs formation was significantly affected by sucrose treatment, we analyzed the expression of genes and miRNAs upon treatment with differential concentrations of sucrose, and a crosstalk between sucrose and IAA was also identified.

Results

Notably, 20 mg/L sucrose promoted the ARs development, whereas 60 mg/L sucrose inhibited the formation of ARs. To investigate the regulatory pathway during ARs formation, the expression of genes and miRNAs was evaluated by high-throughput tag-sequencing. We observed that the expression of 5438, 5184, and 5345 genes was enhanced in the GL20/CK0, GL60/CK0, and CK1/CK0 libraries, respectively. Further, the expression of 73, 78, and 71 miRNAs was upregulated in the ZT20/MCK0, ZT60/MCK0, and MCK1/MCK0 libraries, respectively. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis revealed that most of the differentially expressed genes and miRNAs in the GL20/GL60 and ZT20/ZT60 libraries were involved in signal transduction. A large number of these genes (29) and miRNAs (53) were associated with plant hormone metabolism. We observed an association between five miRNAs (miR160, miR156a-5p, miR397-5p_1, miR396a and miR167d) and nine genes (auxin response factor, protein brassinosteroid insensitive 1, laccase, and peroxidase 27) in the ZT20/ ZT60 libraries during ARs formation. Quantitative polymerase chain reaction (qRT-PCR) was used to validate the high-throughput tag-sequencing data.

Conclusions

We found that the expression of many critical genes involved in IAA synthesis and IAA transport was changed after treatment with various concentration of sucrose. Based on the change of these genes expression, IAA and sucrose content, we concluded that sucrose and IAA cooperatively regulated ARs formation. Sucrose affected ARs formation by improving IAA content at induction stage, and increased sucrose content might be also required for ARs development according to the changes tendency after application of exogenous IAA.
B chromosomes of multiple species have intense evolutionary dynamics and accumulated genes related to important biological processes
Authors: Ahmad Syed F. , Jehangir Maryam , Cardoso Adauto L. , Wolf Ivan R. , Margarido Vladimir P. , Cabral-de-Mello Diogo C. , O’Neill Rachel , Valente Guilherme T. , Martins Cesar
Published: September 2020

Background

One of the biggest challenges in chromosome biology is to understand the occurrence and complex genetics of the extra, non-essential karyotype elements, commonly known as supernumerary or B chromosomes (Bs). The non-Mendelian inheritance and non-pairing abilities of B chromosomes make them an interesting model for genomics studies, thus bringing to bear different questions about their genetic composition, evolutionary survival, maintenance and functional role inside the cell. This study uncovers these phenomena in multiple species that we considered as representative organisms of both vertebrate and invertebrate models for B chromosome analysis.

Results

We sequenced the genomes of three animal species including two fishes Astyanax mexicanus and Astyanax correntinus, and a grasshopper Abracris flavolineata, each with and without Bs, and identified their B-localized genes and repeat contents. We detected unique sequences occurring exclusively on Bs and discovered various evolutionary patterns of genomic rearrangements associated to Bs. In situ hybridization and quantitative polymerase chain reactions further validated our genomic approach confirming detection of sequences on Bs. The functional annotation of B sequences showed that the B chromosome comprises regions of gene fragments, novel genes, and intact genes, which encode a diverse set of functions related to important biological processes such as metabolism, morphogenesis, reproduction, transposition, recombination, cell cycle and chromosomes functions which might be important for their evolutionary success.

Conclusions

This study reveals the genomic structure, composition and function of Bs, which provide new insights for theories of B chromosome evolution. The selfish behavior of Bs seems to be favored by gained genes/sequences.
Autoreceptor control of serotonin dynamics
Authors: Best Janet , Duncan William , Sadre-Marandi Farrah , Hashemi Parastoo , Nijhout H. Frederik , Reed Michael
Published: September 2020

Background

Serotonin is a neurotransmitter that has been linked to a wide variety of behaviors including feeding and body-weight regulation, social hierarchies, aggression and suicidality, obsessive compulsive disorder, alcoholism, anxiety, and affective disorders. Full understanding involves genomics, neurochemistry, electrophysiology, and behavior. The scientific issues are daunting but important for human health because of the use of selective serotonin reuptake inhibitors and other pharmacological agents to treat disorders. This paper presents a new deterministic model of serotonin metabolism and a new systems population model that takes into account the large variation in enzyme and transporter expression levels, tryptophan input, and autoreceptor function.

Results

We discuss the steady state of the model and the steady state distribution of extracellular serotonin under different hypotheses on the autoreceptors and we show the effect of tryptophan input on the steady state and the effect of meals. We use the deterministic model to interpret experimental data on the responses in the hippocampus of male and female mice, and to illustrate the short-time dynamics of the autoreceptors. We show there are likely two reuptake mechanisms for serotonin and that the autoreceptors have long-lasting influence and compare our results to measurements of serotonin dynamics in the substantia nigra pars reticulata. We also show how histamine affects serotonin dynamics. We examine experimental data that show very variable response curves in populations of mice and ask how much variation in parameters in the model is necessary to produce the observed variation in the data. Finally, we show how the systems population model can potentially be used to investigate specific biological and clinical questions.

Conclusions

We have shown that our new models can be used to investigate the effects of tryptophan input and meals and the behavior of experimental response curves in different brain nuclei. The systems population model incorporates individual variation and can be used to investigate clinical questions and the variation in drug efficacy. The codes for both the deterministic model and the systems population model are available from the authors and can be used by other researchers to investigate the serotonergic system.
Comprehensive analysis of the Ppatg3 mutant reveals that autophagy plays important roles in gametophore senescence in Physcomitrella patens
Authors: Chen Zexi , Wang Wenbo , Pu Xiaojun , Dong Xiumei , Gao Bei , Li Ping , Jia Yanxia , Liu Aizhong , Liu Li
Published: September 2020

Background

Autophagy is an evolutionarily conserved system for the degradation of intracellular components in eukaryotic organisms. Autophagy plays essential roles in preventing premature senescence and extending the longevity of vascular plants. However, the mechanisms and physiological roles of autophagy in preventing senescence in basal land plants are still obscure.

Results

Here, we investigated the functional roles of the autophagy-related gene PpATG3 from Physcomitrella patens and demonstrated that its deletion prevents autophagy. In addition, Ppatg3 mutant showed premature gametophore senescence and reduced protonema formation compared to wild-type (WT) plants under normal growth conditions. The abundance of nitrogen (N) but not carbon (C) differed significantly between Ppatg3 mutant and WT plants, as did relative fatty acid levels. In vivo protein localization indicated that PpATG3 localizes to the cytoplasm, and in vitro Y2H assays confirmed that PpATG3 interacts with PpATG7 and PpATG12. Plastoglobuli (PGs) accumulated in Ppatg3, indicating that the process that degrades damaged chloroplasts in senescent gametophore cells was impaired in this mutant. RNA-Seq uncovered a detailed, comprehensive set of regulatory pathways that were affected by the autophagy mutation.

Conclusions

The autophagy-related gene PpATG3 is essential for autophagosome formation in P. patens. Our findings provide evidence that autophagy functions in N utilization, fatty acid metabolism and damaged chloroplast degradation under non-stress conditions. We identified differentially expressed genes in Ppatg3 involved in numerous biosynthetic and metabolic pathways, such as chlorophyll biosynthesis, lipid metabolism, reactive oxygen species removal and the recycling of unnecessary proteins that might have led to the premature senescence of this mutant due to defective autophagy. Our study provides new insights into the role of autophagy in preventing senescence to increase longevity in basal land plants.
Outcomes of Cardiac Resynchronization Therapy in Patients with Hypothyroidism and Heart Failure
Authors: Yang Mei , Li Xuping , Morris John C. , Liang Jinjun , Deshmukh Abhishek J. , Hodge David , Li Yigang , Cha Yong-Mei
Published: September 2020

Background

Hypothyroidism is known to be associated with adverse clinical outcomes in heart failure. The association between hypothyroidism and cardiac resynchronization therapy outcomes in patients with severe heart failure is not clear.

Methods

The study included 1316 patients who received cardiac resynchronization therapy between 2002 and 2015. Baseline demographics and cardiac resynchronization therapy outcomes, including left ventricular ejection fraction, New York Heart Association class, appropriate implantable cardioverter-defibrillator therapy, and all-cause mortality, were collected from the electronic health record.

Results

Of the study cohort, 350 patients (26.6%) were classified as the hypothyroidism group. The median duration of follow-up was 3.6 years (interquartile range, 1.7–6.2 years). Hypothyroidism was not associated with a higher risk of all-cause mortality in patients receiving CRT for heart failure. The risk of appropriate implantable cardioverter-defibrillator therapy significantly increased in association with increased baseline thyroid-stimulating hormone level in the entire cohort (hazard ratio, 1.23 per 5mIU/L increase; 95% CI, 1.01–1.5; P = 0.04) as well as in the hypothyroid group (hazard ratio, 1.44 per 5mIU/L increase; 95% CI, 1.13–1.84; P = 0.004).

Conclusions

CRT improves cardiac function in hypothyroid patients. The ventricular arrhythmic events requiring ICD therapies are associated with baseline TSH level, which might be considered as an important biomarker to stratify the risk of sudden death for patients with heart failure and hypothyroidism.
Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
Authors: Gertz Morie , Adams David , Ando Yukio , Beirão João Melo , Bokhari Sabahat , Coelho Teresa , Comenzo Raymond L. , Damy Thibaud , Dorbala Sharmila , Drachman Brian M. , Fontana Marianna , Gillmore Julian D. , Grogan Martha , Hawkins Philip N. , Lousada Isabelle , Kristen Arnt V. , Ruberg Frederick L. , Suhr Ole B. , Maurer Mathew S. , Nativi-Nicolau Jose , Quarta Candida Cristina , Rapezzi Claudio , Witteles Ronald , Merlini Giampaolo
Published: September 2020

Background

Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms.

Methods

These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central.

Results

The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy.

Conclusions

A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.
Role of sex hormones and their receptors on gastric Nrf2 and neuronal nitric oxide synthase function in an experimental hyperglycemia model
Authors: Sprouse Jeremy , Sampath Chethan , Gangula Pandu R.
Published: September 2020

Background

Gastroparesis, a condition of abnormal gastric emptying, is most commonly observed in diabetic women. To date, the role of ovarian hormones and/or gastric hormone receptors on regulating nitrergic-mediated gastric motility remains inconclusive.

Aim

The purpose of this study is to investigate whether sex hormones/their receptors can attenuate altered Nuclear factor (erythroid-derived 2)-like 2 (Nrf2), neuronal Nitric Oxide Synthase (nNOS) expression and nitrergic relaxation in gastric neuromuscular tissues exposed to in-vitro hyperglycemia (HG).

Methods

Gastric neuromuscular sections from adult female C57BL/6 J mice were incubated in normoglycemic (NG, 5 mM) or hyperglycemic (30 mM or 50 mM) conditions in the presence or absence of selective estrogen receptor (ER) agonists (ERα /PPT or ERβ: DPN); or non-selective sex hormone receptor antagonists (ER/ICI 182,780, or progesterone receptor (PR)/ RU486) for 48 h. mRNA, protein expression and nitrergic relaxation of circular gastric neuromuscular strips were assessed.

Results

Our findings in HG, compared to NG, demonstrate a significant reduction in ER, Nrf2, and nNOS expression in gastric specimens. In addition, in-vitro treatment with sex hormones and/or their agonists significantly (*p < 0.05) restored Nrf2/nNOSα expression and total nitrite production. Conversely, ER, but not PR, antagonist significantly reduced Nrf2/nNOSα expression and nitrergic relaxation.

Conclusions

Our data suggest that ER’s can regulate nitrergic function by improving Nrf2/nNOS expression in experimental hyperglycemia.
Effects of proton pump inhibitor use on the esophageal microbial community
Authors: Tasnim Sadia , Miller Aaron L. , Jupiter Daniel C. , Hamilton Catherine F. , Reep Gabriel L. , Krill Timothy S. , Pyles Richard B. , Okereke Ikenna C.
Published: September 2020

Background

Changes in the esophageal microbiome correlate with esophageal disease, but the effects of proton pump inhibitor (PPI) drugs are incompletely characterized. Our objective was to identify the effects of PPI use on the microbial community of the esophagus.

Methods

Mucosal biopsies of the distal esophagus were analyzed using a customized esophageal microbiome qPCR panel array (EMB). Patient demographics, use of PPIs, duration of use and dose were recorded.

Results

Fifty-eight patients were included. Mean age was 60.5 years. Ninety percent (52/58) of patients were on PPIs. Mean dose was 42.7 mg. Mean duration of use was 2.5 years. The use of PPIs led to a significant difference in absolute levels of only one organism, Actinomyces, in the entire array (p < 0.01). Among patients who used proton pump inhibitors, there was no significant association between dose and absolute levels of any organism. Similarly, there was no association between duration of use and absolute levels of any organism.

Conclusions

PPI use does not seem to cause significant changes in the distal esophageal microbial community. Future studies with larger sample sizes and esophageal pH testing should be performed to determine the level of acidity and its relationship to the microbial community.
Publisher Correction to: COVID-19: interpreting scientific evidence – uncertainty, confusion and delays
Authors: Tang Julian W.
Published: September 2020

An amendment to this paper has been published and can be accessed via the original article.
Symptom-burden in people living with frailty and chronic kidney disease
Authors: Nixon A. C. , Wilkinson T. J. , Young H.M.L. , Taal M. W. , Pendleton N. , Mitra S. , Brady M. E. , Dhaygude A. P. , Smith A. C.
Published: September 2020

Background

Frailty is independently associated with worse health-related quality of life (HRQOL) in chronic kidney disease (CKD). However, the relationship between frailty and symptom experience is not well described in people living with CKD. This study’s aim was to evaluate the relationship between frailty and symptom-burden in CKD.

Methods

This study is a secondary analysis of a cross-sectional observational study, the QCKD study (ISRCTN87066351), in which participants completed physical activity, cardiopulmonary fitness, symptom-burden and HRQOL questionnaires. A modified version of the Frailty Phenotype, comprising 3 self-report components, was created to assess frailty status. Multiple linear regression was performed to assess the association between symptom-burden/HRQOL and frailty. Logistic regression was performed to assess the association between experiencing symptoms frequently and frailty. Principal Component Analysis was used to assess the experienced symptom clusters.

Results

A total of 353 patients with CKD were recruited with 225 (64%) participants categorised as frail. Frail participants reported more symptoms, had higher symptom scores and worse HRQOL scores. Frailty was independently associated with higher total symptom score and lower HRQOL scores. Frailty was also independently associated with higher odds of frequently experiencing 9 out of 12 reported symptoms. Finally, frail participants experienced an additional symptom cluster that included loss of appetite, tiredness, feeling cold and poor concentration.

Conclusions

Frailty is independently associated with high symptom-burden and poor HRQOL in CKD. Moreover, people living with frailty and CKD have a distinctive symptom experience. Proactive interventions are needed that can effectively identify and address problematic symptoms to mitigate their impact on HRQOL.
Concurrent minimal change nephrotic syndrome and type 1 diabetes mellitus in an adult Japanese woman: a case report
Authors: Nishizono Ryuzoh , Kogou Hiroki , Ishizaki Yuri , Minakawa Akihiro , Kikuchi Masao , Inagaki Hiroko , Sato Yuji , Fujimoto Shouichi
Published: September 2020

Background

Concurrent type 1 diabetes mellitus (T1DM) and idiopathic nephrotic syndrome is rare, and most previously reported cases were in children. We report the case of an adult woman who developed T1DM and minimal change nephrotic syndrome (MCNS) nearly simultaneously.

Case presentation

A 24-year-old woman had first presented to another hospital with nausea, vomiting, and fatigue. She was diagnosed with diabetic ketoacidosis and T1DM on the basis of her hyperglycemia, ketoacidosis, and positive anti-glutamic acid decarboxylase antibody test result. Rapid infusion of normal saline and insulin administration alleviated hyperglycemia and ketoacidosis. Two weeks after admission, however, she developed nephrotic syndrome (NS) with rapidly decreasing urine volume. She was referred to our hospital with a diagnosis of acute kidney injury. Although she temporarily required dialysis and high doses of insulin, within 1 month NS and acute kidney injury had been alleviated by oral prednisolone and low-density lipoprotein apheresis. Renal biopsy showed minor glomerular abnormalities without diabetic nephropathy, so we diagnosed her with MCNS. Seven weeks after the discharge, NS relapsed, and cyclosporine was added to prednisolone. However, NS relapsed twice within the next 4 months, so we started her on rituximab. At 6 months after initiating rituximab therapy, she remained in complete remission.

Her mother also had T1DM but not MCNS. The patient had HLA-DRB1*09:01/09:01, DQB1*03:03/03:03, and her mother had HLA-DRB1*04:05/09:01, DQB1*03:03/04:01.

Conclusions

Concurrent T1DM and MCNS is rare and their coexistence might be coincidental. Alternatively, they might have been caused by an underlying, unidentified genetic predisposition. Previous reports and our patient’s findings suggest that specific HLA alleles and haplotypes or a Th1/Th2 imbalance might be associated with T1DM and MCNS that occurred nearly simultaneously.
Chronic kidney disease in Cameroon: a scoping review
Authors: Aseneh Jerry Brown , Kemah Ben-Lawrence A. , Mabouna Stephane , Njang Mbeng Emmanuel , Ekane Domin Sone Majunda , Agbor Valirie Ndip
Published: September 2020

Objectives

This scoping review sought to summarize available data on the prevalence, associated factors, etiology, comorbidities, treatment, cost and mortality of chronic kidney disease (CKD) in Cameroon.

Methods

We searched PubMed, Scopus and African Journals Online from database inception to 31 March, 2020 to identify all studies published on the prevalence, associated factors, etiology, comorbidities, treatment, cost and mortality of CKD in Cameroon.

Results

Thirty studies were included. The prevalence of CKD varied from 3 to 14.1 and 10.0%–14.2% in rural and urban areas, respectively. The prevalence of CKD in patients with hypertension, diabetes mellitus, and human immunodeficiency virus was 12.4–50.0, 18.5%, and 3.0–47.2%, respectively. Hypertension (22.3–59.1%), chronic glomerulonephritis (15.8–56.2%), and diabetes mellitus (15.8–56.2%) were the most common causes of CKD. The cause was unknown in 13.5–17.0% of the cases. Advanced age, hypertension, diabetes mellitus, and obesity were frequent associated factors. Hemodialysis was the main treatment modality in patients with End Stage Renal Disease (ESRD). The monthly cost of management of non-dialyzed CKD was 163 US dollars. The one-year mortality rate of ESRD was 26.8–38.6%.

Conclusion

Chronic kidney disease affects about one in 10 adults in the general population in Cameroon. Patients with hypertension, diabetes mellitus, and human immunodeficiency virus bear the greatest burden of CKD in Cameroon. Advanced age, hypertension, diabetes mellitus, and obesity are major factors associated with CKD. Chronic kidney disease in Cameroon is associated with high morbidity and mortality and huge economic cost on the patient.
Neuronal intranuclear inclusion disease with mental abnormality: a case report
Authors: Chi Xiaosa , Li Man , Huang Ting , Tong Kangyong , Xing Hongyi , Chen Jixiang
Published: September 2020

Background

Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disease that is characterized by the discovery of eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. In this paper, we report a case of an adult-onset neuronal intranuclear inclusion disease presenting with mental abnormality in China.

Case presentation

A 62-year-old woman presented with mental abnormality and forgetfulness for 3 months before she was admitted to our hospital. There were prodromal symptoms of fever before she had the mental disorder. Encephalitis was first suspected, and the patient underwent lumbar puncture and brain magnetic resonance imaging (MRI). A cerebrospinal fluid (CSF) examination indicated normal pressure, a normal white blood cell count, and slightly elevated protein and glucose levels. Coxsackie B virus, enterovirus, and cytomegalovirus tests showed normal results. Bacterial culture and Cryptococcus neoformans test results were negative. The contrast-enhanced MRI of the brain was normal. The brain diffusion-weighted imaging (DWI) showed a symmetrically distributed strip-shaped hyperintensity signal of the corticomedullary junction in the bilateral frontal, parietal, and temporal lobes. We considered the diagnosis of the NIID, and therefore, skin biopsy was performed. The electron microscopy revealed that intranuclear inclusions in the nucleus of fibrocytes existed and were composed of filaments.

Conclusions

NIID is a rare neurodegenerative disease with diverse clinical manifestations. In clinical work, when a patient presents with abnormal mental behavior and exhibits hyperintensity signals on DWI images of the corticomedullary junction, it is crucial to consider the diagnosis of NIID.
GLUT-1 as a predictor of worse prognosis in pancreatic adenocarcinoma: immunohistochemistry study showing the correlation between expression and survival
Authors: Achalandabaso Boira Mar , Di Martino Marcello , Gordillo Carlos , Adrados Magdalena , Martín-Pérez Elena
Published: September 2020

Background

Various parameters have been considered for predicting survival in pancreatic ductal adenocarcinoma. Information about western population is missing. The aim of this study is to assess the association between Glucose transporter type 1 (GLUT-1) expression and prognosis for patients with PDAC submitted for surgical resection in a European cohort.

Methods

Retrospective analysis of PDAC specimens after pancreatoduodenectomy assessing GLUT-1 expression according to intensity (weak vs strong) and extension (low if < 80% cells were stained, high if > 80%) was performed. Statistical analysis was performed using the exact Fisher test, Student t test or the Mann-Whitney U test. Survival was analysed using the Kaplan-Meier method and compared with the Log-rank test. The differences were considered significant at a two-sided p value of < 0.05. All statistical analyses were performed using SPSS® 23.0 for Windows (SPSS Inc., Chicago, IL, USA).

Results

Our study consisted of 39 patients of which 58.9% presented with weak and 41.1% with strong intensity. The median extension was 90%: 28.2% cases presented with a low extension and 71.8% with a high extension. No significant differences related to intensity were found. The high-extension group showed a higher percentage of T3 PDAC (92.9% vs 63.6%, p = 0.042) and LNR20 (35.7% vs 0%, p = 0.037) as well as shorter disease-free survival (17.58 vs 54.46 months; p = 0.048).

Conclusions

Our findings suggest that GLUT-1 could be related to higher aggressivity in PDAC and could be used as a prognostic marker, identifying patients with a worse response to current therapies who could benefit from more aggressive treatments.
Clinical presentation and prognostic analysis of adult patients with Langerhans cell histiocytosis with pulmonary involvement
Authors: Miao Hui-lei , Zhao Ai-lin , Duan Ming-hui , Zhou Dao-bin , Cao Xin-xin , Li Jian
Published: September 2020

Background

The study aimed to investigate the clinical features and prognosis factors of adult patients with Langerhans cell histiocytosis (LCH) with pulmonary involvement, especially multisystem (MS) LCH with pulmonary involvement.

Methods

We retrospectively analyzed the demographic materials, clinical features and treatment outcomes of 119 adult LCH patients with pulmonary involvement at our center from January 1990 to November 2019.

Results

Among 119 patients, 13 (10.9%) had single-system (SS) LCH, and 106 (89.1%) had MS-LCH with pulmonary involvement. SS-LCH patients had higher smoking rate (84.6% vs 52.8%, P = 0.026) and smoking index (300 vs 200, P = 0.019) than MS-LCH patients. The percentage of respiratory symptoms of SS-LCH patients was higher than MS-LCH patients (84.6% vs 53.8%, P = 0.034). Pulmonary function was impaired in 83.8% of the patients, and DLCO was the parameter most frequently impaired, accounting for 81.1%. The median DLCO was 65.1% predicted. Patients with pneumothorax had significantly worse DLCO (P = 0.022), FEV1 (P = 0.000) and FEV1/FVC (P = 0.000) than those without pneumothorax. During the follow-up, 72.4% of the patients had stable pulmonary function, and 13.8% showed improvements after chemotherapy. The estimated 3-year OS and EFS were 89.7 and 58.3%, respectively. Patients with a baseline FEV1 ≤ 55% predicted had worse OS. A history of pneumothorax indicated worse EFS and cytarabine based therapy predicted better EFS.

Conclusions

An FEV1 ≤ 55% predicted and a history of pneumothorax at diagnosis indicated a poor prognosis. Cytarabine based regimen may arrest the decline in pulmonary function in LCH patients with pulmonary involvement and improve EFS.