bluuebunny/crossref_metadata_2025 huggingface dataset:
Nonlinear ridge regression improves cell-type-specific differential expression analysis
Authors: Takeuchi Fumihiko , Kato Norihiro
Published: March 2021

Background

Epigenome-wide association studies (EWAS) and differential gene expression analyses are generally performed on tissue samples, which consist of multiple cell types. Cell-type-specific effects of a trait, such as disease, on the omics expression are of interest but difficult or costly to measure experimentally. By measuring omics data for the bulk tissue, cell type composition of a sample can be inferred statistically. Subsequently, cell-type-specific effects are estimated by linear regression that includes terms representing the interaction between the cell type proportions and the trait. This approach involves two issues, scaling and multicollinearity.

Results

First, although cell composition is analyzed in linear scale, differential methylation/expression is analyzed suitably in the logit/log scale. To simultaneously analyze two scales, we applied nonlinear regression. Second, we show that the interaction terms are highly collinear, which is obstructive to ordinary regression. To cope with the multicollinearity, we applied ridge regularization. In simulated data, nonlinear ridge regression attained well-balanced sensitivity, specificity and precision. Marginal model attained the lowest precision and highest sensitivity and was the only algorithm to detect weak signal in real data.

Conclusion

Nonlinear ridge regression performed cell-type-specific association test on bulk omics data with well-balanced performance. The omicwas package for R implements nonlinear ridge regression for cell-type-specific EWAS, differential gene expression and QTL analyses. The software is freely available from https://github.com/fumi-github/omicwas
Shifts in morphology, gene expression, and selection underlie web loss in Hawaiian Tetragnatha spiders
Authors: Berger Cory A. , Brewer Michael S. , Kono Nobuaki , Nakamura Hiroyuki , Arakawa Kazuharu , Kennedy Susan R. , Wood Hannah M. , Adams Seira A. , Gillespie Rosemary G.
Published: March 2021

Background

A striking aspect of evolution is that it often converges on similar trajectories. Evolutionary convergence can occur in deep time or over short time scales, and is associated with the imposition of similar selective pressures. Repeated convergent events provide a framework to infer the genetic basis of adaptive traits. The current study examines the genetic basis of secondary web loss within web-building spiders (Araneoidea). Specifically, we use a lineage of spiders in the genusTetragnatha(Tetragnathidae) that has diverged into two clades associated with the relatively recent (5 mya) colonization of, and subsequent adaptive radiation within, the Hawaiian Islands. One clade has adopted a cursorial lifestyle, and the other has retained the ancestral behavior of capturing prey with sticky orb webs. We explore how these behavioral phenotypes are reflected in the morphology of the spinning apparatus and internal silk glands, and the expression of silk genes. Several sister families to the Tetragnathidae have undergone similar web loss, so we also ask whether convergent patterns of selection can be detected in these lineages.

Results

The cursorial clade has lost spigots associated with the sticky spiral of the orb web. This appears to have been accompanied by loss of silk glands themselves. We generated phylogenies of silk proteins (spidroins), which showed that the transcriptomes of cursorialTetragnathacontain all major spidroins except for flagelliform. We also found an uncharacterized spidroin that has higher expression in cursorial species. We found evidence for convergent selection acting on this spidroin, as well as genes involved in protein metabolism, in the cursorialTetragnathaand divergent cursorial lineages in the families Malkaridae and Mimetidae.

Conclusions

Our results provide strong evidence that independent web loss events and the associated adoption of a cursorial lifestyle are based on similar genetic mechanisms. Many genes we identified as having evolved convergently are associated with protein synthesis, degradation, and processing, which are processes that play important roles in silk production. This study demonstrates, in the case of independent evolution of web loss, that similar selective pressures act on many of the same genes to produce the same phenotypes and behaviors.
Characterization of cotton ARF factors and the role of GhARF2b in fiber development
Authors: Zhang Xiufang , Cao Junfeng , Huang Chaochen , Zheng Zishou , Liu Xia , Shangguan Xiaoxia , Wang Lingjian , Zhang Yugao , Chen Zhiwen
Published: March 2021

Background

Cotton fiber is a model system for studying plant cell development. At present, the functions of many transcription factors in cotton fiber development have been elucidated, however, the roles of auxin response factor (ARF) genes in cotton fiber development need be further explored.

Results

Here, we identify auxin response factor (ARF) genes in three cotton species: the tetraploid upland cottonG. hirsutum, which has 73 ARF genes, and its putative extent parental diploidsG. arboreumandG. raimondii, which have 36 and 35 ARFs, respectively. Ka and Ks analyses revealed that inG. hirsutum ARFgenes have undergone asymmetric evolution in the two subgenomes. The cotton ARFs can be classified into four phylogenetic clades and are actively expressed in young tissues. We demonstrate thatGhARF2b, a homolog of the ArabidopsisAtARF2, was preferentially expressed in developing ovules and fibers. Overexpression ofGhARF2bby a fiber specific promoter inhibited fiber cell elongation but promoted initiation and, conversely, its downregulation by RNAi resulted in fewer but longer fiber. We show that GhARF2b directly interacts with GhHOX3 and represses the transcriptional activity of GhHOX3 on target genes.

Conclusion

Our results uncover an important role of the ARF factor in modulating cotton fiber development at the early stage.
Video as an alternative to in-person consultations in outpatient renal transplant recipient follow-up: a qualitative study
Authors: Varsi Cecilie , Stenehjem Aud-Eldrid , Børøsund Elin , Solberg Nes Lise
Published: March 2021

Background

Renal transplant recipients have to see a nephrologist for regular follow-up for the rest of their lives. To reduce the burden for the patients, video consultation can be an alternative to traditional in-person hospital consultations. The aim of the current study was, from the perspectives of patients and health care providers, to investigate the perceived benefits and challenges of using video consultations in outpatient renal transplant recipient follow-up.

Methods

Patients (i.e., renal transplant recipients; n = 18) alternated between regular in-person follow-up consultations and video consultations. Patients and health care providers were then invited to participate in semi-structured interviews. The interviews were analyzed using thematic analysis.

Results

Patients interviewed (n = 15) were median 53 years old (range 37–64) and 53% female. The video consultation solution used in the study turned out to have major technical deficiencies. Despite the technical challenges, however, the majority of the patients reported appreciating being able to alternate between video and in-person hospital consultations. Main benefits reported included not needing to travel to the hospital and thereby saving time, less focus on being chronically ill and potential economic benefits for patients and society. The health care providers (n = 3) also valued the benefits provided by the use of video consultations, but described the reoccurring technical challenges as disruptive. The fact that patients were in a stable phase of their health condition and already had an established, trusting relationship with their nephrologist, acted as facilitators for success. Possible challenges and harms described included concerns related to security, confidentiality and interruptions, as well as the potential need for physical examinations.

Conclusions

Benefits from using video consultations as an alternative to in-person consultations may outweigh potential technological challenges for patients as well as health care providers. A long-lasting mutually trusting relationship between patient and provider may be an important prerequisite for the experienced benefits of using video consultation. Findings also indicate that starting such care delivery changes in a small-scale, with a few selected patients in a stable phase of their condition, may be an important factor for success.
Hazardous alcohol use is associated with greater pain interference and prescription opioid misuse among persons living with HIV and chronic pain
Authors: Ngo Belle , Liebschutz Jane M. , Cheng Debbie M. , Colasanti Jonathan A. , Merlin Jessica S. , Armstrong Wendy S. , Forman Leah S. , Lira Marlene C. , Samet Jeffrey H. , del Rio Carlos , Tsui Judith I.
Published: March 2021

Background

Alcohol use is common among persons living with HIV (PLWH), who often experience chronic pain, yet its impact on pain and opioid misuse is not fully characterized.

Methods

We assessed associations between hazardous alcohol use and pain interference, defined as the self-reported impact of pain on daily living, pain severity, and risk for opioid misuse among PLWH who were on long-term opioid therapy (LTOT). A cohort was recruited as part of the “Targeting Effective Analgesia in Clinics for HIV” (TEACH) study, a randomized controlled trial to improve LTOT in HIV clinics. The Alcohol Use Disorders Test (AUDIT), Brief Pain Inventory (BPI) and the Current Opioid Misuse Measure (COMM) were administered at both baseline and 12-months. Linear mixed and generalized estimating equation models, incorporating data from both time points, evaluated associations between hazardous alcohol use (AUDIT ≥8) and: pain interference (0–10), pain severity (0–10), and opioid misuse risk (COMM ≥13), adjusting for age, gender, depressive symptoms, use of non-alcohol substances, time-point, and study-arm.

Results

The sample was comprised of 166 participants, of which 31 (19%) reported hazardous alcohol use. The majority were male (65%), black (72%), and the mean age was 54 (range: 29–77). Hazardous alcohol use was significantly associated with higher pain interference (adjusted mean difference [AMD]: 1.02; 95% CI: 0.08, 1.96) and higher odds of opioid misuse risk (AOR: 3.73, 95% CI: 1.88–7.39), but not pain severity (AMD: 0.47, 95% CI: − 0.35, 1.29).

Conclusions

Hazardous alcohol use was associated with greater functional impairment in daily living from their pain and higher odds for prescription opioid misuse in this study of PLWH on LTOT. Providers should be attentive to alcohol use among PLWH who are prescribed opioids given associations with pain and opioid misuse.

Trial registration

ClinicalTrials.govNCT02564341 (Intervention, September 30, 2015) and NCT02525731 (Patient Cohort, August 17, 2015). Both prospectively registered.
An innovative approach to improve the detection and treatment of risk factors in poor urban settings: a feasibility study in Argentina
Authors: Rosana Poggio , Danaei Goodarz , Gutierrez Laura , Cavallo Ana , Lopez María Victoria , Irazola Vilma
Published: March 2021

Background

The effective management of cardiovascular (CVD) prevention among the population with exclusive public health coverage in Argentina is low since less than 30% of the individuals with predicted 10-year CVD risk ≥10% attend a clinical visit for CVD risk factors control in the primary care clinics (PCCs).

Methods

We conducted a non-controlled feasibility study using a mixed methods approach to evaluate acceptability, adoption and fidelity of a multi-component intervention implemented in the public healthcare system. The eligibility criteria were having exclusive public health coverage, age ≥ 40 years, residence in the PCC’s catchment area and 10-year CVD risk ≥10%. The multi-component intervention addressed (1) system barriers through task shifting among the PCC’s staff, protected medical appointments slots and a new CVD form and (2) Provider barriers through training for primary care physicians and CHW and individual barriers through a home-based intervention delivered by community health workers (CHWs).

Results

A total of 185 participants were included in the study. Of the total number of eligible participants, 82.2% attended at least one clinical visit for risk factor control. Physicians intensified drug treatment in 77% of participants with BP ≥140/90 mmHg and 79.5% of participants with diabetes, increased the proportion of participants treated according to GCP from 21 to 32.6% in hypertensive participants, 7.4 to 33.3% in high CVD risk and 1.4 to 8.7% in very high CVD risk groups. Mean systolic and diastolic blood pressure were lower at the end of follow up (156.9 to 145.4 mmHg and 92.9 to 88.9 mmHg, respectively) and control of hypertension (BP < 140/90 mmHg) increased from 20.3 to 35.5%.

Conclusion

The proposed CHWs-led intervention was feasible and well accepted to improve the detection and treatment of risk factors in the poor population with exclusive public health coverage and with moderate or high CVD risk at the primary care setting in Argentina. Task sharing activities with CHWs did not only stimulate teamwork among PCC staff, but it also improved quality of care. This study showed that community health workers could have a more active role in the detection and clinical management of CVD risk factors in low-income communities.
Correlates of group sex participation among men who have sex with men in Chongqing, Southwestern China
Authors: Chen Jin , Fan Hui , Chen Huailiang , Yao Feifei
Published: March 2021

Background

Findings from specific countries indicated group sex was common among men who have sex with men (MSM), and men who reported group sex participation were at increased risk of human immunodeficiency virus (HIV)/sexually transmitted infections (STIs). The purpose of the current analysis was to describe the prevalence and correlates of group sex participation among a community-based sample of MSM in Chongqing, southwestern China.

Methods

Convenience sampling method was used to recruit participants and data were collected through an anonymous questionnaire. Logistic regression analysis was employed to identify correlates of group sex participation.

Results

Overall, 1151 eligible participants were enrolled in the study. 14.7% of MSM reported participating in group sex in their lifetime, and 5.8% reported group sex participation in the prior 6 months. Factors positively associated with group sex participation in both the prior 6 months and the lifetime included: monthly income ≥3000 Yuan (adjusted odds ratios [aOR] = 3.67, 95% confidence interval [CI] 1.25–10.75; aOR = 2.30, 95% CI 1.21–4.35), initiating anal sex before 18 years old (aOR = 1.86, 95% CI 1.03–3.34; aOR = 2.00, 95% CI 1.31–3.05), using gay apps to seek sex partners (aOR = 7.41, 95% CI 2.57–21.33; aOR = 9.75, 95% CI 4.92–19.33), recreational drug use (aOR = 10.10, 95% CI 5.52–18.49; aOR = 4.75, 95% CI 3.20–7.05) and having condomless internal ejaculation (CIE) (aOR = 3.66, 95% CI 2.01–6.68; aOR = 1.61, 95% CI 1.11–2.35). Factors only associated with group sex participation in the lifetime were older age (age between 26 and 35 years old: aOR = 2.06, 95% CI 1.30–3.26; age > 35 years old: aOR = 1.95, 95% CI 1.10–3.46) and history of STIs (aOR = 2.51, 95% CI 1.37–4.62).

Conclusions

The results of this study suggested that group sex participation was a potentially risky context for acquisition and transmission of HIV/STIs. Close attention should be given to MSM who participated in group sex, and appropriate risk reduction interventions should be developed specific to this subgroup of MSM.
Which factors are associated with the prevalence of meniscal repair?
Authors: Song Xiaoxiao , Chen Dongyang , Qi Xinsheng , Jiang Qing , Xia Caiwei
Published: March 2021

Purpose To investigate the potential factors associated with the prevalence of meniscal repair

Methods Patients who received partial meniscectomy or meniscal repair in our institution from Jan 2015 to Dec 2019 were included in current study. The inclusion criteria were (1) meniscus tear treated using meniscectomy or repair, (2) with or without concomitant anterior cruciate ligament reconstruction, (3) not multiligamentous injury. Demographic data, including sex, age, body mass index (BMI), injury-to-surgery interval and intra-articular factors such as the location of injury, medial or lateral, ACL rupture or not and the option of procedure (partial meniscectomy or repair) were documented from medical records. Univariate analysis consisted of chi-square. Multivariate logistic regression was then performed to adjust for confounding factors.

Results 592 patients including 399 males and 193 females with a mean age of 28.7 years (range from 10 to 75 years) were included in current study. In the univariate analysis, male (p = 0.002), patients aged 40 years or younger (p < 0.001), increased weight (p = 0.010), Posterior meniscus torn (0.011), concurrent ACL ruputure (p < 0.001), lateral meniscus (p = 0.039) and early surgery (p < 0.001) were all associated with the prevalence of meniscal repair. However, After adjusting for confounding factors, we found that age (OR, 0.35; 95% CI, 0.17 - 0.68, p = 0.002), ACL injury (OR, 3.76; 95% CI, 1.97 – 7.21, p < 0.001), side of menisci (OR, 3.29; 95% CI, 1.43 – 7.55, p = 0.005), site of tear (OR, 0.15; 95% CI, 0.07 – 0.32, p < 0.001), and duration of injury (OR, 0.46; 95% CI, 0.28 – 0.82, p = 0.008) were associated with the prevalence of meniscus repair.

Conclusions Meniscal tear in aged patients especially those with concomitant ACL injury is likely to be repaired. Additionally, in order to increase the prevalence of repair and slow down progression of OA, the surgical procedure should be performed within two weeks after meniscus tear especially when the tear is located at lateral meniscal posterior.

Study design

Case-control study; level of evidence, 3.
Does endometriosis increase susceptibility to COVID-19 infections? A case–control study in women of reproductive age
Authors: Moazzami Bahram , Chaichian Shahla , Samie Saeed , Zolbin Masoumeh Majidi , Jesmi Fatemeh , Akhlaghdoust Meisam , Pishkuhi Mahin Ahmadi , Mirshafiei Zahra Sadat , Khalilzadeh Fereshteh , Safari Dorsa
Published: March 2021

Background

In today’s world, coronavirus disease 2019 (COVID-19) is the most critical health problem and research is continued on studying the associated factors. But it is not clear whether endometriosis increases the risk of COVID-19.

Methods

Women who referred to the gynecology clinic were evaluated and 507 women with endometriosis (case group) were compared with 520 women without endometriosis (control group). COVID-19 infection, symptoms, exposure, hospitalization, isolation, H1N1 infection and vaccination, and past medical history of the participants were recorded and compared between the groups using IBM SPSS Statistics for Windows version 21.

Results

Comparison between the groups represent COVID-19 infection in 3.2% of the case group and 3% of the control group (P = 0.942). The control group had a higher frequency of asymptomatic infection (95.7% vs. 94.5%; P < 0.001) and fever (1.6% vs. 0%; P = 0.004), while the frequency of rare symptoms was more common in the case group (P < 0.001). The average disease period was 14 days in both groups (P = 0.694). COVID-19 infection was correlated with close contact (r = 0.331; P < 0.001 in the case group and r = 0.244; P < 0.001 in the control group), but not with the history of thyroid disorders, H1N1 vaccination, traveling to high-risk areas, and social isolation (P > 0.05).

Conclusion

Endometriosis does not increase the susceptibility to COVID-19 infections, but alters the manifestation of the disease. The prevalence of the disease may depend on the interaction between the virus and the individual’s immune system but further studies are required in this regard.
Community acceptance of reactive focal mass drug administration and reactive focal vector control using indoor residual spraying, a mixed‐methods study in Zambezi region, Namibia
Authors: Roberts Kathryn W. , Smith Gueye Cara , Baltzell Kimberly , Ntuku Henry , McCreesh Patrick , Maglior Alysse , Whittemore Brooke , Uusiku Petrina , Mumbengegwi Davis , Kleinschmidt Immo , Gosling Roly , Hsiang Michelle S.
Published: March 2021

Background

In Namibia, as in many malaria elimination settings, reactive case detection (RACD), or malaria testing and treatment around index cases, is a standard intervention. Reactive focal mass drug administration (rfMDA), or treatment without testing, and reactive focal vector control (RAVC) in the form of indoor residual spraying, are alternative or adjunctive interventions, but there are limited data regarding their community acceptability.

Methods

A parent trial aimed to compare the effectiveness of rfMDA versus RACD, RAVC versus no RAVC, and rfMDA + RAVC versus RACD only. To assess acceptability of these interventions, a mixed-methods study was conducted using key informant interviews (KIIs) and focus group discussions (FGDs) in three rounds (pre-trial and in years 1 and 2 of the trial), and an endline survey.

Results

In total, 17 KIIs, 49 FGDs were conducted with 449 people over three annual rounds of qualitative data collection. Pre-trial, community members more accurately predicted the level of community acceptability than key stakeholders. Throughout the trial, key participant motivators included: malaria risk perception, access to free community-based healthcare and IRS, and community education by respectful study teams. RACD or rfMDA were offered to 1372 and 8948 individuals in years 1 and 2, respectively, and refusal rates were low (< 2%). RAVC was offered to few households (n = 72) in year 1. In year 2, RAVC was offered to more households (n = 944) and refusals were < 1%. In the endline survey, 94.3% of 2147 respondents said they would participate in the same intervention again.

Conclusions

Communities found both reactive focal interventions and their combination highly acceptable. Engaging communities and centering and incorporating their perspectives and experiences during design, implementation, and evaluation of this community-based intervention was critical for optimizing study engagement.
A non-invasive nanoparticles for multimodal imaging of ischemic myocardium in rats
Authors: Chen Xiajing , Zhang Yanan , Zhang Hui , Zhang Liang , Liu Lingjuan , Cao Yang , Ran Haitao , Tian Jie
Published: March 2021

Background

Ischemic heart disease (IHD) is the leading cause of morbidity and mortality worldwide, and imposes a serious economic load. Thus, it is crucial to perform a timely and accurate diagnosis and monitoring in the early stage of myocardial ischemia. Currently, nanoparticles (NPs) have emerged as promising tools for multimodal imaging, because of their advantages of non-invasion, high-safety, and real-time dynamic imaging, providing valuable information for the diagnosis of heart diseases.

Results

In this study, we prepared a targeted nanoprobe (termed IMTP-Fe3O4-PFH NPs) with enhanced ultrasound (US), photoacoustic (PA), and magnetic resonance (MR) performance for direct and non-invasive visual imaging of ischemic myocardium in a rat model. This successfully designed nanoprobe had excellent properties such as nanoscale size, good stability, phase transformation by acoustic droplet vaporization (ADV), and favorable safety profile. Besides, it realized obvious targeting performance toward hypoxia-injured cells as well as model rat hearts. After injection of NPs through the tail vein of model rats, in vivo imaging results showed a significantly enhanced US/PA/MR signal, well indicating the remarkable feasibility of nanoprobe to distinguish the ischemic myocardium.

Conclusions

IMTP-Fe3O4-PFH NPs may be a promising nanoplatform for early detection of ischemic myocardium and targeted treatment under visualization for the future.
The mediating effect of social support on the relationship between perceived stress and quality of life among shidu parents in China
Authors: Wang Cong , Lin Shuang , Ma Yanni , Wang Yang
Published: March 2021

Background

“Loss-of-only-child family” refers to the family in which the only child died and the mother has passed her child-bearing age. The parents who are unable to reproduce or do not foster other children are known as “shidu parents” in China. This study aimed to estimate the quality of life (QOL) and the mediating role of social support between perceived stress and QOL in Chinese shidu parents.

Methods

502 shidu parents were recruited in Shenyang city. Shidu parents were asked to complete a questionnaire including the MOS item short from health survey (SF-36), the perceived stress scale-10 (PSS-10) and the functional social support questionnaire (FSSQ). Hierarchical linear regression was performed to assess the associations among perceived stress, social support and QOL. Asymptotic and resampling strategies were used to explore the mediating role of social support.

Results

The mean score of PCS and MCS was 64.83 ± 22.66 and 59.36 ± 21.83, respectively. Perceived stress was found to be negatively associated with both PCS (β =  − 0.21, p < 0.001) and MCS (β =  − 0.28, p < 0.001), while social support was positively associated with both PCS (β = 0.32, p < 0.001) and MCS (β = 0.32, p < 0.001). For shidu parents, the proportion of mediation of social support between perceived stress and QOL was 36.85% for PCS and 29.45% for MCS, respectively.

Conclusions

Perceived stress was associated with QOL and social support had a partially mediating effect between perceived stress and QOL in Chinese shidu parents. Low PCS and MCS of shidu parents highlight the need of timely developing interventions to reduce stress and reinforce social support to further improve their QOL.
Effect and limitation of neoadjuvant chemotherapy for pancreatic ductal adenocarcinoma: consideration from a new perspective
Authors: Kurata Yoshihiro , Shiraki Takayuki , Ichinose Masanori , Kubota Keiichi , Imai Yasuo
Published: March 2021

Background

Effect of neoadjuvant chemotherapy (NAC) for pancreatic ductal adenocarcinoma (PDAC) has remained under investigation. We investigated its effect from a unique perspective and discussed its application.

Patients and methods

We retrospecively analyzed consecutive 131 PDAC patients who underwent pancreatoduodenectomy and distal pancreatectomy. Clinicopathologic data at surgery and postoperative prognosis were compared between patients who underwent upfront surgery (UFS) (n = 64) and those who received NAC (n = 67), of which 62 (92.5%) received gemcitabine plus S-1 (GS). The GS regimen resulted in about 15% of partial response and 85% of stable disease in a previous study which analyzed a subset of this study subjects.

Results

Tumor size was marginally smaller, degree of nodal metastasis and rate of distant metastasis were significantly lower, and pathologic stage was significantly lower in the NAC group than in the UFS group. In contrast, significant differences were not observed in histopathologic features such as vessel and perineural invasions and differentiation grade. Notably, disease-free and overall survivals were similar between the two groups adjusted for the pathologic stage, suggesting that effects of NAC, including macroscopically undetectable ones such as control of micro-metastasis and devitalizing tumor cells, may not be remarkable in the majority of PDAC, at least with respect to the GS regimen.

Conclusions

NAC may be useful in downstaging and improving prognosis in a small subset of tumors. However, postoperative prognosis may be determined at the pathologic stage of resected specimen with or without NAC. Therefore, NAC may be applicable to borderline resectable and locally advanced PDAC for enabling surgical resection, but UFS would be desirable for primary resectable PDAC.
Monitoring patients with juvenile idiopathic arthritis using health-related quality of life
Authors: Doeleman Martijn J. H. , de Roock Sytze , Buijsse Nathan , Klein Mark , Bonsel Gouke J. , Seyfert-Margolis Vicki , Swart Joost F. , Wulffraat Nico M.
Published: March 2021

Background

Pediatric patients with juvenile idiopathic arthritis (JIA) are at risk for a lower health-related quality of life compared to their healthy peers. Remote monitoring of health-related quality of life using electronic patient-reported outcomes could provide important information to treating physicians. The aim of this study was to investigate if self-assessment with the EuroQol five-dimensional ‘youth’ questionnaire with five levels (EQ-5D-Y-5 L) inside a mobile E-health application could identify JIA patients in need of possible treatment adjustments.

Methods

The EQ-5D-Y-5 L was completed via a mobile application (Reuma2Go) between October 2017 and January 2019. The clinical juvenile arthritis disease activity score with 71 joint count (cJADAS-71) was reported at every corresponding visit as reference for disease activity. Previously described cJADAS-71 thresholds were used to identify patients in possible need of treatment adjustments. Discriminatory power of the EQ-5D-Y-5 L was assessed by ROC-curves and diagnostic characteristics.

Results

Sixty-eight JIA patients completed the EQ-5D-Y-5 L questionnaire. Median cJADAS-71 indicated low disease activity overall in the studied population. ROC curves and diagnostic characteristics demonstrated that self-assessment with the EQ-5D-Y-5 L could distinguish between patients with inactive disease (or minimal disease activity) and moderate to high disease activity with good accuracy (87%), sensitivity (85%), specificity (89%) and negative predictive value (86%).

Conclusions

Results demonstrate that the EQ-5D-Y-5 L was able to identify JIA patients in need of possible treatment adjustments in our studied population. Remote monitoring of health-related quality of life and patient-reported outcomes via E-health applications could provide important additional information to determine the frequency of clinical visits, assess therapeutic efficacy and guide treat-to-target strategies in pediatric patients with JIA.
Addressing future work ability of employees in GP consultations: results of a cross-sectional study
Authors: Ehmann Anna T. , Martus Peter , Siegel Achim , Rieger Monika A.
Published: March 2021

Objectives

In this study we examined to what extent members of a best-practice integrated healthcare model in Germany discussed their subjective future work ability with their general practitioner (GP); furthermore, we examined independent variables which explain whether future work ability is discussed.

Methods

In a cross-sectional survey, 1168 (out of 3218 invited) integrated healthcare members responded to a standardized questionnaire. This study includes n = 475 employed respondents who were at most 65 years old. We determined the (relative) frequency of employed members up to 65 years who had already discussed their subjective future work ability with their GP. By means of logistic regression analysis, explanatory variables were identified which statistically explained the discussion of future work ability with their GP.

Results

N = 80 (16.8%) respondents stated they had discussed their future work ability with their GP. A multiple logistic regression analysis showed the following results: The odds ratio for discussing future work ability is increased the more satisfied respondents are with their general practitioner, the worse they assess their current work ability in relation to the physical demands of the job, and when respondents suffer from one or more chronic diseases (Nagelkerke’s pseudo-R2 = 0.13).

Conclusions

Even in this healthcare setting, employees up to the age of 65 rarely discussed their subjective future work ability with their GP. This suggests that the issue ‘future work ability’ is even less commonly discussed in other community-based care settings in Germany. It seems that health care providers involved in acute care only sporadically take this issue into consideration - despite the great importance of maintaining work ability.
Use, perception, and local management of Copernicia prunifera (Miller) H. E. Moore in rural communities in the Brazilian Savanna
Authors: de Almeilda José Afonso Santana , Feitosa Nágila Alves , Sousa Leilane de Carvalho e , Silva Raimundo Nonato Oliveira , de Morais Rodrigo Ferreira , Monteiro Júlio Marcelino , de Sousa Júnior José Ribamar
Published: March 2021

Background

Copernicia prunifera belongs to the Arecaceae family, and its production chain includes a set of economic activities based on the use of the stipe, petiole, fiber, fruits, roots, and leaves from which carnaúba wax is extracted, an economically valuable resource in the region. This study aimed to evaluate the uses, management, and perception of the species by local extractors.

Methods

Two communities were studied, Bem Quer, where 15 extractors of carnaúba leaves were interviewed, and Cana, where 21 extractors considered specialists were interviewed, totaling a sample of 36 interviewees. Interviewees were asked questions about uses, ways of handling, and perception of morphological variation in the carnaúba leaves. The number of leaves extracted and the income obtained from the sale of leaves were estimated from interviews and notes that each leader of extractors held during the year of the research and previous years, as well as direct observations made by researchers in the communities which recollection area of straw hold about 80 thousand individuals of C. prunifera. A regression analysis was used to explore the relationships between social variables (age, time in extractive activity, and income obtained from extraction) with the number of leaves exploited.

Results

The leaf was indicated as the most used part, from which an important powder is extracted for the production of wax. In addition, the leaf was also indicated to be used for fertilization and construction. The relationship between the socioeconomic variables, income from extraction, and the number of leaves extracted (in thousands) was significant (R2 = 0.73 and p < 0.001). However, the other variables analyzed in this study, such as the time spent extracting leaves and the years of residence in the community (R2 = 0.03 and p > 0.05); the number of leaves extracted and interviewee age (R2= 0.05 and p > 0.05); and the number of leaves extracted and extraction time (R2 = 0.04 and p > 0.05) did not indicate a relationship.

Conclusion

Local extractors observed that new leaves have the highest sales value, as they have the highest production of powder. In addition, economic factor is the preponderant force that directs the management strategies of native species. For this species, however, morphological and genetic studies are needed for further clarification.
Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities
Authors: Walter Anna-Lena , Baty Florent , Rassouli Frank , Bilz Stefan , Brutsche Martin Hugo
Published: March 2021

Background

Diagnostic precision and the identification of rare diseases is a daily challenge, which needs specialized expertise. We hypothesized, that there is a correlation between the distance of residence to the next tertiary medical facility with highly specialized care and the diagnostic precision, especially for rare diseases.

Results

Using a nation-wide hospitalization database, we found a negative association between diagnostic diversity and travel time to the next tertiary referral hospital when including all cases throughout the overall International Classification of Diseases version 10 German Modification (ICD-10-GM) diagnosis codes. This was paralleled with a negative association of standardized incidence rates in all groups of rare diseases defined by the Orphanet rare disease nomenclature, except for rare teratologic and rare allergic diseases.

Conclusion

Our findings indicate a higher risk of being mis-, under- or late diagnosed especially in rare diseases when living more distant to a tertiary medical facility. Greater distance to the next tertiary medical facility basically increases the chance for hospitalization in a non-comprehensive regional hospital with less diagnostic capacity, and, thus, impacts on adapted health care access. Therefore, solutions for overcoming the distance to specialized care as an indicator of health care access are a major goal in the future.
A PCR-RFLP method for genotyping of inversion 2Rc in Anopheles coluzzii
Authors: Montanez‑Gonzalez Raquel , Vallera Alexandra C. , Calzetta Maria , Pichler Verena , Love Rachel R. , Guelbeogo Moussa W. , Dabire Roch K. , Pombi Marco , Costantini Carlo , Simard Frederic , della Torre Alessandra , Besansky Nora J.
Published: March 2021

Background

Genotyping of polymorphic chromosomal inversions in malaria vectors such as An. coluzzii Coetzee & Wilkerson is important, both because they cause cryptic population structure that can mislead vector analysis and control and because they influence epidemiologically relevant eco-phenotypes. The conventional cytogenetic method of genotyping is an impediment because it is labor intensive, requires specialized training, and can be applied only to one gender and developmental stage. Here, we circumvent these limitations by developing a simple and rapid molecular method of genotyping inversion 2Rc in An. coluzzii that is both economical and field-friendly. This inversion is strongly implicated in temporal and spatial adaptations to climatic and ecological variation, particularly aridity.

Methods

Using a set of tag single-nucleotide polymorphisms (SNPs) strongly correlated with inversion orientation, we identified those that overlapped restriction enzyme recognition sites and developed four polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assays that distinguish alternative allelic states at the tag SNPs. We assessed the performance of these assays using mosquito population samples from Burkina Faso that had been cytogenetically karyotyped as well as genotyped, using two complementary high-throughput molecular methods based on tag SNPs. Further validation was performed using mosquito population samples from additional West African (Benin, Mali, Senegal) and Central African (Cameroon) countries.

Results

Of four assays tested, two were concordant with the 2Rc cytogenetic karyotype > 90% of the time in all samples. We recommend that these two assays be employed in tandem for reliable genotyping. By accepting only those genotypic assignments where both assays agree, > 99% of assignments are expected to be accurate.

Conclusions

We have developed tandem PCR-RFLP assays for the accurate genotyping of inversion 2Rc in An. coluzzii. Because this approach is simple, inexpensive, and requires only basic molecular biology equipment, it is widely accessible. These provide a crucial tool for probing the molecular basis of eco-phenotypes relevant to malaria epidemiology and vector control.

Graphical Abstract
Diet-induced obesity leads to behavioral indicators of pain preceding structural joint damage in wild-type mice
Authors: Kerr Geoffrey J. , To Bethia , White Ian , Millecamps Magali , Beier Frank , Grol Matthew W. , Stone Laura S. , Séguin Cheryle A.
Published: March 2021

Introduction

Obesity is one of the largest modifiable risk factors for the development of musculoskeletal diseases, including intervertebral disc (IVD) degeneration and back pain. Despite the clinical association, no studies have directly assessed whether diet-induced obesity accelerates IVD degeneration, back pain, or investigated the biological mediators underlying this association. In this study, we examine the effects of chronic consumption of a high-fat or high-fat/high-sugar (western) diet on the IVD, knee joint, and pain-associated outcomes.

Methods

Male C57BL/6N mice were randomized into one of three diet groups (chow control; high-fat; high-fat, high-sugar western diet) at 10 weeks of age and remained on the diet for 12, 24, or 40 weeks. At endpoint, animals were assessed for behavioral indicators of pain, joint tissues were collected for histological and molecular analysis, serum was collected to assess for markers of systemic inflammation, and IBA-1, GFAP, and CGRP were measured in spinal cords by immunohistochemistry.

Results

Animals fed obesogenic (high-fat or western) diets showed behavioral indicators of pain beginning at 12 weeks and persisting up to 40 weeks of diet consumption. Histological indicators of moderate joint degeneration were detected in the IVD and knee following 40 weeks on the experimental diets. Mice fed the obesogenic diets showed synovitis, increased intradiscal expression of inflammatory cytokines and circulating levels of MCP-1 compared to control. Linear regression modeling demonstrated that age and diet were both significant predictors of most pain-related behavioral outcomes, but not histopathological joint degeneration. Synovitis was associated with alterations in spontaneous activity.

Conclusion

Diet-induced obesity accelerates IVD degeneration and knee OA in mice; however, pain-related behaviors precede and are independent of histopathological structural damage. These findings contribute to understanding the source of obesity-related back pain and the contribution of structural IVD degeneration.
Anti-transcription intermediary factor 1 gamma (TIF1γ) antibody-positive dermatomyositis associated with ascending colon cancer: a case report and review of the literature
Authors: Ono Ryohei , Kumagae Tomohiro , Igasaki Mari , Murata Takaaki , Yoshizawa Masaki , Kitagawa Izumi
Published: March 2021

Background

Anti-transcriptional intermediary factor 1 gamma (TIF1γ) antibody is a marker for predicting cancer association in patients with dermatomyositis (DM). The overall survival rate in DM patients with cancer was reported to be considerably worse than that in DM patients without cancer. However, the treatment for cancer-associated DM remains controversial, because the treatment priority between surgical resection for the tumor and internal treatments, including glucocorticoids, immunosuppressive agents, and intravenous immune globulin, has not been established.

Case presentation

We report the case of a 57-year-old Japanese man diagnosed with anti-TIF1γ antibody-positive DM associated with ascending colon cancer. His clinical symptoms included facial and brachial edema, muscle weakness, dysphagia, myalgia, and rash. Physical examination revealed periorbital edema and Gottron's papules over his knuckles with brachial edema, and tenderness and weakness of the proximal limb muscles. The findings of hyperintense muscles in T2-weighted sequences of brachial contrast-enhanced magnetic resonance imaging and the infiltration of lymphocytic cells and CD4-positive lymphocytes from muscle biopsy were compatible with the diagnostic criteria for dermatomyositis. Anti-TIF1γ antibody was positive by immunoprecipitation assay. He first started internal treatment including intravenous immunoglobulin, steroid pulse, prednisolone, and azathioprine, followed by surgical resection for the tumor because of the elevation of creatine kinase and progression of dysphagia. However, clinical symptoms did not improve, and the patient died 6 months later.

Conclusions

We faced difficulties in determining the treatment priority between surgical resection and internal treatment for our case; therefore, this case would be educational for readers. We searched PubMed to identify English-language case reports of anti-TIF1γ antibody-positive dermatomyositis with malignancy and found 21 reported cases. We herein review and summarize previously reported cases of anti-TIF1γ antibody-positive DM with malignancy. Cancer screening is essential in patients with anti-TIF1γ antibody-positive dermatomyositis because it is associated with a high prevalence of malignancies. Our review revealed that initial surgical treatment should be recommended for better prognosis if the general condition allows.
Impact of sex in the prevalence and progression of glioblastomas: the role of gonadal steroid hormones
Authors: Bello-Alvarez Claudia , Camacho-Arroyo Ignacio
Published: March 2021

Background

As in other types of cancers, sex is an essential factor in the origin and progression of glioblastomas. Research in the field of endocrinology and cancer suggests that gonadal steroid hormones play an important role in the progression and prevalence of glioblastomas. In the present review, we aim to discuss the actions and mechanism triggered by gonadal steroid hormones in glioblastomas.

Main body

Glioblastoma is the most common malignant primary brain tumor. According to the epidemiological data, glioblastomas are more frequent in men than in women in a 1.6/1 proportion both in children and adults. This evidence, and the knowledge about sex influence over the prevalence of countless diseases, suggest that male gonadal steroid hormones, such as testosterone, promote glioblastomas growth. In contrast, a protective role of female gonadal steroid hormones (estradiol and progesterone) against glioblastomas has been questioned. Several pieces of evidence demonstrate a variety of effects induced by female and male gonadal steroid hormones in glioblastomas. Several studies indicate that pregnancy, a physiological state with the highest progesterone and estradiol levels, accelerates the progression of low-grade astrocytomas to glioblastomas and increases the symptoms associated with these tumors. In vitro studies have demonstrated that progesterone has a dual role in glioblastoma cells: physiological concentrations promote cell proliferation, migration, and invasion while very high doses (out physiological range) reduce cell proliferation and increases cell death.

Conclusion

Gonadal steroid hormones can stimulate the progression of glioblastomas through the increase in proliferation, migration, and invasion. However, the effects mentioned above depend on the concentrations of these hormones and the receptor involved in hormone actions. Estradiol and progesterone can exert promoter or protective effects while the role of testosterone has been always associated to glioblastomas progression.