bluuebunny/crossref_metadata_2025 huggingface dataset:
Interrater and Intrarater Reliability of Musculoskeletal Ultrasonographic Findings for the Common Extensor Tendon of the Elbow
Authors: Patel Vikas , Esfahani Ali , Ahmadi Roozbeh , Forney Michael , Apiafi Mary , King Dominic , Genin Jason
Published: May 2021

Objectives:

This retrospective case study evaluated the interrater and intrarater reliability of seven common extensor tendon pathologic features on musculoskeletal ultrasonography (MSK-US).

Materials and Methods:

A cohort of 50 patients were imaged due to presenting with atraumatic nonradicular lateral elbow pain. Three experienced and two novice readers rated the images on two separate occasions, and AC1 and kappa coefficients were calculated for each feature.

Results:

The interrater reliability was fair with respect to fascial thickening/scarring (AC1 = 0.26), tearing (AC1 = 0.35), tendon thickening (AC1 = 0.38), and intratendinous calcification (AC1 = 0.33); substantial for enthesophytes (AC1 = 0.80); and near complete for hyperemia (AC1 = 0.83) and hypoechogenicity (AC1 = 0.92). Intrarater reliability was moderate for fascial thickening/scarring (κ = 0.48), tearing (κ = 0.41), tendon thickening (0.47), intratendinous calcification (κ = 0.56), and hypoechogenicity (κ = 0.47); substantial for hyperemia (κ = 0.71); and almost perfect for enthesophytes (κ = 0.86).

Conclusion:

MSK-US may be a reliable tool to determine soft tissue changes in common extensor tendon pathology.
Socioeconomic biases in asthma control and specialist referral of possible severe asthma
Authors: Håkansson Kjell Erik Julius , Backer Vibeke , Ulrik Charlotte Suppli
Published: May 2021

Background

Although socioeconomic impact on asthma control has been investigated, little is known about its relationship to specialist referral of patients with possible severe asthma, especially in a public healthcare setting. The present study aims to identify socioeconomic patterns in disease control and referral of patients with asthma in a nationwide cohort of adult patients treated with inhaled corticosteroids (ICS).

Methods

Asthma patients fulfilling the following criteria were included: aged 18–45 years and redeeming two or more prescriptions of ICS during 2014–2018 based on data from Danish national registers. Possible severe asthma was defined as Global Initiative for Asthma 2020 step 4 (with either two or more courses of systemic steroids or at least one hospitalisation) or step 5 treatment. Findings presented as odds ratios (95% confidence intervals).

Results

Out of 60 534 patients (median age 34 years, 55% female), 3275 (5.7%) were deemed as having possible severe asthma, of whom 61% were managed in primary care alone. Odds of specialist management for possible severe asthma decreased with age (OR 0.66, 95% CI 0.51–0.85; 36–45versus18–25 years), male sex (OR 0.75, 95% CI 0.64–0.87), residence outside the Capital Region (OR 0.70, 95% CI 0.59–0.82) and with receiving unemployment or disability benefits (OR 0.75, 95% CI 0.59–0.95). Completion of higher education increased odds of specialist referral (OR 1.28, 95% CI 1.03–1.59), when compared to patients with basic education.

Conclusion

Even in settings with nationally available free access to specialist care, the majority of patients with possible severe asthma are managed in primary care. Referral of at-risk asthma patients differs across socioeconomic parameters, calling for initiatives to identify and actively refer these patients.
Trends in risk stratification, in-hospital management and mortality of patients with acute pulmonary embolism: an analysis from the China pUlmonary thromboembolism REgistry Study (CURES)
Authors: Zhai Zhenguo , Wang Dingyi , Lei Jieping , Yang Yuanhua , Xu Xiaomao , Ji Yingqun , Yi Qun , Chen Hong , Hu Xiaoyun , Liu Zhihong , Mao Yimin , Zhang Jie , Shi Juhong , Zhang Zhu , Wu Sinan , Gao Qian , Tao Xincao , Xie Wanmu , Wan Jun , Zhang Yunxia , Zhang Shuai , Zhen Kaiyuan , Zhang Zhonghe , Fang Baomin , Wang Chen
Published: May 2021

Similar trends of management and in-hospital mortality of acute pulmonary embolism (PE) have been reported in European and American populations. However, these tendencies are not clear in Asian countries. We retrospectively analysed the trends of risk stratification, management and in-hospital mortality for patients with acute PE through a multicentre registry in China (CURES).

Adult patients with acute symptomatic PE were included between 2009 and 2015. Trends in disease diagnosis, treatment and death in hospital were fully analysed. Risk stratification was retrospectively classified by haemodynamic status and the simplified Pulmonary Embolism Severity Index (sPESI) score according to the 2014 European Society of Cardiology/European Respiratory Society guidelines.

Among 7438 patients, the proportions with high (haemodynamic instability), intermediate (sPESI≥1) and low (sPESI=0) risk were 4.2%, 67.1% and 28.7%, respectively. Computed tomographic pulmonary angiography was the most widely used diagnostic approach (87.6%) and anticoagulation was the most frequently adopted initial therapy (83.7%). Between 2009 and 2015, a significant decline was observed for all-cause mortality (from 3.1% to 1.3%, adjusted pfor trend=0.0003), with a concomitant reduction in the use of initial systemic thrombolysis (from 14.8% to 5.0%, pfor trend<0.0001). The common predictors for all-cause mortality shared by haemodynamically stable and unstable patients were co-existing cancer, older age and impaired renal function.

The considerable reduction of mortality over the years was accompanied by changes in initial treatment. These findings highlight the importance of risk stratification-guided management throughout the nation.
BoardION: real-time monitoring of Oxford Nanopore sequencing instruments
Authors: Bruno Aimeric , Aury Jean-Marc , Engelen Stefan
Published: May 2021

Background

One of the main advantages of the Oxford Nanopore Technology (ONT) is the possibility of real-time sequencing. This gives access to information during the experiment and allows either to control the sequencing or to stop the sequencing once the results have been obtained. However, the ONT sequencing interface is not sufficient to explore the quality of sequencing data in depth and existing quality control tools do not take full advantage of real-time data streaming.

Results

Herein, we present BoardION, an interactive web application to analyze the efficiency of ONT sequencing runs. The interactive interface of BoardION allows users to easily explore sequencing metrics and optimize the quantity and the quality of the data generated during the experiment. It also enables the comparison of multiple flowcells to assess library preparation protocols or the quality of input samples.

Conclusion

BoardION is dedicated to people who manage ONT sequencing instruments and allows them to remotely and in real time monitor their experiments and compare multiple sequencing runs. Source code, a Docker image and a demo version are available at http://www.genoscope.cns.fr/boardion/.
IPD 2.0: To derive insights from an evolving SARS-CoV-2 genome
Authors: Desai Sanket , Rane Aishwarya , Joshi Asim , Dutt Amit
Published: May 2021

Background

Rapid analysis of SARS-CoV-2 genomic data plays a crucial role in surveillance and adoption of measures in controlling spread of Covid-19. Fast, inclusive and adaptive methods are required for the heterogenous SARS-CoV-2 sequence data generated at an unprecedented rate.

Results

We present an updated version of the SARS-CoV-2 analysis module of our automated computational pipeline, Infectious Pathogen Detector (IPD) 2.0, to perform genomic analysis to understand the variability and dynamics of the virus. It adopts the recent clade nomenclature and demonstrates the clade prediction accuracy of 92.8%. IPD 2.0 also contains a SARS-CoV-2 updater module, allowing automatic upgrading of the variant database using genome sequences from GISAID. As a proof of principle, analyzing 208,911 SARS-CoV-2 genome sequences, we generate an extensive database of 2.58 million sample-wise variants. A comparative account of lineage-specific mutations in the newer SARS-CoV-2 strains emerging in the UK, South Africa and Brazil and data reported from India identify overlapping and lineages specific acquired mutations suggesting a repetitive convergent and adaptive evolution.

Conclusions

A novel and dynamic feature of the SARS-CoV-2 module of IPD 2.0 makes it a contemporary tool to analyze the diverse and growing genomic strains of the virus and serve as a vital tool to help facilitate rapid genomic surveillance in a population to identify variants involved in breakthrough infections. IPD 2.0 is freely available from http://www.actrec.gov.in/pi-webpages/AmitDutt/IPD/IPD.html and the web-application is available at http://ipd.actrec.gov.in/ipdweb/.
Lactobacillus rhamnosus HDB1258 modulates gut microbiota-mediated immune response in mice with or without lipopolysaccharide-induced systemic inflammation
Authors: Han Sang-Kap , Shin Yeon-Jeong , Lee Dong-Yeon , Kim Kyung Min , Yang Seo-Jin , Kim Du Seong , Choi Ji-Whi , Lee Seunghun , Kim Dong-Hyun
Published: May 2021

Background

Gut microbiota closely communicate in the immune system to maintain a balanced immune homeostasis in the gastrointestinal tract of the host. Oral administration of probiotics modulates gut microbiota composition. In the present study, we isolatedLactobacillus rhamnosusHDB1258, which induced tumor necrosis factor (TNF)-α and interleukin (IL)-10 expression in macrophages, from the feces of breastfeeding infants and examined how HDB1258 could regulate the homeostatic immune response in mice with or without lipopolysaccharide (LPS)-induced systemic inflammation.

Results

Oral administration of HDB1258 significantly increased splenic NK cell cytotoxicity, peritoneal macrophage phagocytosis, splenic and colonic TNF-α expression, TNF-α to IL-10 expression ratio, and fecal IgA level in control mice, while Th1 and Treg cell differentiation was not affected in the spleen. However, HDB1258 treatment significantly suppressed peritoneal macrophage phagocytosis and blood prostaglandin E2 level in mice with LPS-induced systemic inflammation. Its treatment increased LPS-suppressed ratios of Treg to Th1 cell population, Foxp3 to T-bet expression, and IL-10 to TNF-α expression. Oral administration of HDB1258 significantly decreased LPS-induced colon shortening, myeloperoxidase activity and NF-κB+/CD11c+cell population in the colon, while the ratio of IL-10 to TNF-α expression increased. Moreover, HDB1258 treatment shifted gut microbiota composition in mice with and without LPS-induced systemic inflammation: it increased the Cyanobacteria and PAC000664_g (belonging to Bacteroidetes) populations and reduced Deferribacteres and EU622763_s group (belonging to Bacteroidetes) populations. In particular, PAC001066_g and PAC001072_s populations were negatively correlated with the ratio of IL-10 to TNF-α expression in the colon, while the PAC001070_s group population was positively correlated.

Conclusions

Oral administered HDB1258 may enhance the immune response by activating innate immunity including to macrophage phagocytosis and NK cell cytotoxicity in the healthy host and suppress systemic inflammation in the host with inflammation by the modulation of gut microbiota and IL-10 to TNF-α expression ratio in immune cells.
Phenotypic changes in group B streptococci grown in the presence of the polyols, erythritol, sorbitol and mannitol
Authors: Hulbah Maram , Croxen Matthew A. , Tyrrell Gregory J.
Published: May 2021

Background

Group B streptococci (GBS) are important neonatal bacterial pathogens that can cause severe invasive disease in the newborn. It is thought that in many cases of invasive neonatal GBS disease, the bacteria ascend the vagina into the uterus and infect the amniotic fluid surrounding the fetus. Important constituents of this environment include the polyols or sugar alcohols of which erythritol, sorbitol and mannitol are examples. The aim of our study was to investigate the effect of polyols on GBS grown in media containing these sugar alcohols.

Results

GBS incubated in varying concentrations of polyols (erythritol, sorbitol or mannitol) did not display any significant enhancement or inhibition of bacterial growth. However, growth of GBS in the presence of erythritol significantly increased the surface expression of GBS-PGK (a plasminogen binding protein) 1.25 to 1.5-fold depending on the erythritol concentration and significantly enhanced the survival in human blood 3X to 18X depending on the concentration of polyol used. Interestingly, GBS grown in 1% erythritol significantly increased invasion by the bacteria of HeLa cells (epithelial cell line) (150% vs 100%) however, at higher concentrations (2% or 4% of polyol) the number of CFUs was significantly reduced (55-75% vs 100%) suggesting higher concentrations of polyols may inhibit invasion. Erythritol also increased GBS hemolytic activity as well as enhancing biofilm formation 1.4X to 3.3X depending on the concentration of polyol used.

Conclusions

GBS grown in the presence of polyols alters the bacteria’s phenotype resulting in changes associated with GBS virulence. This effect was greatest for the polyol erythritol.
A qualitative study of home health care experiences among Chinese homebound adults
Authors: Zhou Rui , Cheng Joyce , Wang Shuangshuang , Yao Nengliang
Published: May 2021

Background

Home health care services (HHC) are emerging in China to meet increased healthcare needs among the homebound population, but there is a lack of research examining the efficiency and effectiveness of this new care model. This study aimed to investigate care recipients’ experiences with HHC and areas for improvement in China.

Methods

This research was a qualitative study based on semi-structured interviews. Qualitative data were collected from homebound adults living in Jinan, Zhangqiu, and Shanghai, China. A sample of 17 homebound participants aged 45 or older (mean age = 76) who have received home-based health care were recruited. Conceptual content analysis and Colaizzi’s method was used to generate qualitative codes and identify themes.

Results

The evaluations of participants’ experiences with HHC yielded both positive and negative aspects. Positive experiences included: 1) the healthcare delivery method was convenient for homebound older adults; 2) health problems could be detected in a timely manner because clinicians visited regularly; 3) home care providers had better bedside manners and technical skills than did hospital-based providers; 4) medical insurance typically covered the cost of home care services. Areas that could potentially be improved included: 1) the scope of HHC services was too limited to meet all the needs of homebound older adults; 2) the visit time was too short; 3) healthcare providers’ technical skills varied greatly.

Conclusions

Findings from this study suggested that the HHC model benefited Chinese older adults—primarily homebound adults—in terms of convenience and affordability. There are opportunities to expand the scope of home health care services and improve the quality of care. Policymakers should consider providing more resources and incentives to enhance HHC in China. Educational programs may be created to train more HHC providers and improve their technical skills.
Differentiating malignant and benign necrotic lung lesions using kVp-switching dual-energy spectral computed tomography
Authors: Li Qi , Fan Xiao , Luo Tian-You , Lv Fa-Jin , Huang Xing-Tao
Published: May 2021

Background

Necrotic pulmonary lesions manifest as relatively low-density internally on contrast-enhanced computed tomography (CT). However, using CT to differentiate malignant and benign necrotic pulmonary lesions is challenging, as these lesions have similar peripheral enhancement. With the introduction of dual-energy spectral CT (DESCT), more quantitative parameters can be obtained and the ability to differentiate material compositions has been highly promoted. This study investigated the use of kVp-switching DESCT in differentiating malignant from benign necrotic lung lesions.

Methods

From October 2016 to February 2019, 40 patients with necrotic lung cancer (NLC) and 31 with necrotic pulmonary mass-like inflammatory lesion (NPMIL) were enrolled and underwent DESCT. The clinical characteristics of patients, CT morphological features, and DESCT quantitative parameters of lesions were compared between the two groups. Binary logistic regression analysis was performed to identify the independent prognostic factors differentiating NPMIL from NLC. Receiver operating characteristic (ROC) curves were used to assess the diagnostic performance of single-parameter and multiparametric analyses.

Results

Significant differences in age, C-reactive protein concentration, the slope of the spectral curve from 40 to 65 keV (K40–65 keV) of necrosis in non-contrast-enhanced scanning (NCS), arterial phase (AP) and venous phase (VP), effective atomic number of necrosis in NCS, and iodine concentration (IC) of the solid component in VP were observed between groups (all p < 0.05). The aforementioned parameters had area under the ROC curve (AUC) values of 0.747, 0.691, 0.841, 0.641, 0.660, 0.828, and 0.754, respectively, for distinguishing between NLC and NPMIL. Multiparametric analysis showed that age, K40–65 keV of necrosis in NCS, and IC of the solid component in VP were the most effective factors for differentiating NLC from NPMIL, with an AUC of 0.966 and percentage of correct class of 88.7%.

Conclusions

DESCT can differentiate malignant from benign necrotic lung lesions with a relatively high accuracy.
Compression therapy using surgical gloves does not prevent paclitaxel-induced peripheral neuropathy: results from a double-blind phase 2 trial
Authors: Kotani Haruru , Terada Mitsuo , Mori Makiko , Horisawa Nanae , Sugino Kayoko , Kataoka Ayumi , Adachi Yayoi , Gondou Naomi , Yoshimura Akiyo , Hattori Masaya , Sawaki Masataka , Takahata Chihoko , Kobara Makiko , Iwata Hiroji
Published: May 2021

Background

Chemotherapy-induced peripheral neuropathy (CIPN) is a common adverse effect of paclitaxel (PTX). There is no known prophylactic measure, although there are some reports of prevention with compression therapy using surgical gloves. On account of its predominantly subjective symptoms, it is difficult to exclude bias when assessing for CIPN. In this study, we assessed the effectiveness of the same procedure for the prevention of paclitaxel-induced PN based on a double-blind study design.

Methods

The patients with early and recurrent breast cancer (with no prior PTX exposure) initiating weekly chemotherapy with PTX 80 mg/m2 were enrolled. Each patient donned two gloves on each hand at every PTX infusion. Two one-size-smaller gloves were donned on one hand (study side) and two normal-size gloves were donned on the other hand (control side) during 90 min from 30 min before the infusion to 30 min after the end of the infusion. Study side are blind for both patients and assessing physicians according to determination of the study side by research nurses in the chemotherapy unit.

The primary outcome was the difference in the frequency of CIPN (motor/sensory) determined by the physician using the common terminology criteria for adverse events (CTCAE v4.0), with an evaluation at each cycle of PTX infusion. McNemar test was used to assess the primary outcome.

Results

Between July 2017 and November 2018, 56 patients were enrolled and 49 patients were evaluated. Overall, Grade ≥ 2 PN (sensory) was observed in 30.6 and 36.7% in the study and control sides, respectively (McNemar p = 0.25). PN (motor) was observed in 4.1 and 6.1% in the study and control sides, respectively (McNemar p = 1.0).

Conclusion

Surgical glove compression therapy showed no statistically significant effect on the incidence of PTX-induced PN.

Trial registrations

This study was registered with the University Hospital Medical Information Network (UMIN) Clinical Trials Registry managed by the National University Hospital Council of Japan (UMIN000027944). Registered 26 June 2017.
Risk and outcome of subsequent malignancies after radioactive iodine treatment in differentiated thyroid cancer patients
Authors: Mei Xiaoran , Yao Xiaoqin , Feng Fang , Cheng Weiwei , Wang Hui
Published: May 2021

Background

We identified differentiated thyroid cancer (DTC) survivors from SEER registries and performed Poisson regression to calculate the relative risks (RRs) of subsequent malignancies (SMs) by different sites associated with radioactive iodine (RAI) treatment, and the attributable risk proportion of RAI for developing different SMs.

Results

We identified 4628 of 104,026 DTC patients developing a SM after two years of their DTC diagnosis, with a medium follow-up time of 113 months. The adjusted RRs of developing SM associated with RAI varied from 0.98 (0.58–1.65) for neurologic SMs to 1.37 (1.13–1.66) for hematologic SMs. The RRs of developing all cancer combined SMs generally increased with age at DTC diagnosis and decreased with the latency time. We estimated that the attributable risk proportion of RAI treatment is only 0.9% for all cancer combined SMs and 20% for hematologic SMs, which is the highest among all SMs. The tumor features and mortalities in patients treated with and without RAI are generally comparable.

Conclusion

With the large population based analyses, we concluded that a low percentage of DTC survivors would develop SMs during their follow-up. Although the adjusted RR of SMs development increased slightly in patients receiving RAI, the attributable risk proportion associated with RAI was low, suggesting the absolute number of SMs induced by RAI in DTC survivors would be low. The attributable risk proportion of RAI treatment is the highest in hematological SMs, but when in consideration of its low incidence among all DTC survivors, the absolute number of hematological SMs was low.
Elevated mature monocytes in bone marrow accompanied with a higher IPSS-R score predicts a poor prognosis in myelodysplastic syndromes
Authors: Wu An , Gao Panpan , Wu Ningning , Shi Cong , Huang Zhenya , Rong Chunmeng , Sun Ye , Sheng Lixia , Ouyang Guifang , Mu Qitian
Published: May 2021

Background

Myelodysplastic syndromes (MDS) is a group of heterogeneous myeloid clonal diseases originating from hematopoietic stem cells. Clinically, elevated mature monocyte in bone marrow is often observed, but its clinical value still remains unclear.

Methods

We retrospectively analyzed a cohort of 216 MDS patients to explore the prognostic value of the percentage of mature monocyte in bone marrow (PMMBM). All patients were divided into elevated PMMBM group and the normal group by 6% PMMBM as the cut-off value.

Results

Our results showed that PMMBM> 6% was associated with inferior overall survival (OS) (P = 0.026) along with higher-risk IPSS-R (P = 0.025) and higher frequency of IDH2 mutation (P = 0.007). Multivariate analyses showed that besides older age (> 60 years) for OS, gender (male) for OS, lower neutrophil count (< 0.8 ×  109/L) for OS, higher bone marrow blast percentage (> 5%) for OS and LFS, poorer karyotype for OS, elevated PMMBM was also an independent adverse prognostic factor for OS in MDS (P < 0.0001) but not for LFS (P = 0.736).

Conclusions

These findings indicate that increased PMMBM may assists Revised International Prognostic Scoring System (IPSS-R) to predict a poor outcome and provide a novel evaluation factor for MDS patients especially when their karyotype analyses fail.
Chemotherapy-induced neutropenia and treatment efficacy in advanced non-small-cell lung cancer: a pooled analysis of 6 randomized trials
Authors: Gargiulo Piera , Arenare Laura , Gridelli Cesare , Morabito Alessandro , Ciardiello Fortunato , Gebbia Vittorio , Maione Paolo , Spagnuolo Alessia , Palumbo Giuliano , Esposito Giovanna , Della Corte Carminia Maria , Morgillo Floriana , Mancuso Gianfranco , Di Liello Raimondo , Gravina Adriano , Schettino Clorinda , Di Maio Massimo , Gallo Ciro , Perrone Francesco , Piccirillo Maria Carmela
Published: May 2021

Background

Chemotherapy-induced neutropenia (CIN) has been demonstrated to be a prognostic factor in several cancer conditions. We previously found a significant prognostic value of CIN on overall survival (OS), in a pooled dataset of patients with advanced non-small-cell lung cancer (NSCLC) receiving first line chemotherapy from 1996 to 2001. However, the prognostic role of CIN in NSCLC is still debated.

Methods

We performed a post hoc analysis pooling data prospectively collected in six randomized phase 3 trials in NSCLC conducted from 2002 to 2016. Patients who never started chemotherapy and those for whom toxicity data were missing were excluded. Neutropenia was categorized on the basis of worst grade during chemotherapy: absent (grade 0), mild (grade 1–2), or severe (grade 3–4). The primary endpoint was OS. Multivariable Cox model was applied for statistical analyses. In the primary analysis, a minimum time (landmark) at 180 days from randomization was applied in order to minimize the time-dependent bias.

Results

Overall, 1529 patients, who received chemotherapy, were eligible; 572 of them (who received 6 cycles of treatment) represented the landmark population. Severe CIN was reported in 143 (25.0%) patients and mild CIN in 135 (23.6%). At multivariable OS analysis, CIN was significantly predictive of prognosis although its prognostic value was entirely driven by severe CIN (hazard ratio [HR] of death 0.71; 95%CI: 0.53–0.95) while it was not evident with mild CIN (HR 1.21; 95%CI: 0.92–1.58). Consistent results were observed in the out-of-landmark group (including 957 patients), where both severe and mild CIN were significantly associated with a reduced risk of death.

Conclusion

The pooled analysis of six large trials of NSCLC treatment shows that CIN occurrence is significantly associated with a longer overall survival, particularly in patients developing severe CIN, confirming our previous findings.
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
Authors: He Ming-Fang , Yang Ji , Dong Meng-Jie , Wang Yin-Ting , Liu Hai
Published: May 2021

Background

Mucopolysaccharidosis type VI (MPS VI) is a rare autosomal recessive inherited disease caused by mutations in the arylsulfatase B (ARSB) gene. MPS VI is a multisystemic disease resulting from a deficiency in arylsulfatase B causing an accumulation of glycosaminoglycans in the tissues and organs of the body.

In this report, we present the case of a 16-year-old Chinese male who presented with vision loss caused by corneal opacity. MPS VI was confirmed by genetic diagnosis.

Case presentation

A 16-year-old Chinese male presented with a one-year history of binocular vision loss. The best-corrected visual acuity was 0.25 in the right eye and 0.5 in the left eye. Although slit-lamp examination revealed corneal opacification in both eyes, the ocular examinations of his parents were normal. At the same time, the patient presented with kyphotic deformity, short stature, joint and skeletal malformation, thick lips, long fingers, and coarse facial features. Genetic assessments revealed that ARSB was the causative gene. Compound heterozygous missense mutations were found in the ARSB gene, namely c.1325G > A (p. Thr442Met) (M1) and c.1197G > C (p. Phe399Leu) (M2). Genetic diagnosis confirmed that the patient had MPS VI.

Conclusions

This paper reports a case of MPS VI confirmed by genetic diagnosis.

MPS VI is a multisystem metabolic disease, with corneal opacity as a concomitant ocular symptom. As it is difficult for ophthalmologists to definitively diagnose MPS VI, genetic testing is useful for disease confirmation.
Differences in reporting food insecurity and factors associated with differences among Latino fathers and mothers
Authors: Nagao-Sato Sayaka , Druziako Stephanie , Baltaci Aysegul , Peralta Reyes Alejandro Omar , Zhang Youjie , Hurtado Choque Ghaffar Ali , Reicks Marla
Published: May 2021

Background

Food security status has been assessed as a representative score for households; however, different members in the same household may perceive and report food insecurity differently. A high prevalence of food insecurity has been reported among Latino households, therefore understanding differences in reporting food insecurity by Latino father-mother dyads may improve accuracy of assessment and plans to address food insecurity. This study aimed to 1) determine demographic characteristics and/or food-related factors associated with perceptions of food security status among Latino father-mother dyads, and 2) identify factors associated with discordance in perceptions of food insecurity between dyads.

Methods

Baseline data were used from a community-based, youth obesity prevention program among Latino families (n = 106 father-mother dyads). Food security was assessed with a 2-item food insecurity screen. Logistic regression models were used to evaluate associations between reporting food security status and predictor variables for fathers, mothers, and dyad-discordant responses.

Results

Food insecurity was reported by 39% of fathers and 55% of mothers. Adjusted odds of reporting food insecurity were significantly higher for fathers perceiving their neighborhood was unsafe vs. safe (OR: 3.7, p < 0.05) and reporting lower vs. higher household income (OR: 3.2, p < 0.05). Adjusted odds of reporting food insecurity were significantly higher for mothers perceiving their neighborhood was unsafe vs. safe (OR: 4.1, p < 0.01) and reporting lower vs. higher home availability of fruit and vegetable (OR: 5.5, p < 0.01). Dyad discordance in reporting food security status occurred in 24% of the dyads. Adjusted odds of dyad discordant reports of food insecurity status were significantly higher for dyads reporting discordant responses regarding previous nutrition education (OR: 3.4, p < 0.05) and higher home fruit and vegetable accessibility (OR: 3.1, p < 0.05) compared to dyads reporting concordant responses. Among the 28 dyads who reported discordant nutrition education participation, 21 reported that fathers had never participated but mothers had participated more than once.

Conclusions

Differential factors were associated with reporting food security among Latino father-mother dyads. Nutrition education for fathers that improves awareness of home food supplies and a better understanding of how food accessibility influences maternal perceptions may improve dyad discordance in reporting household food security.
OASIS +: leveraging machine learning to improve the prognostic accuracy of OASIS severity score for predicting in-hospital mortality
Authors: EL-Manzalawy Yasser , Abbas Mostafa , Hoaglund Ian , Cerna Alvaro Ulloa , Morland Thomas B. , Haggerty Christopher M. , Hall Eric S. , Fornwalt Brandon K.
Published: May 2021

Background

Severity scores assess the acuity of critical illness by penalizing for the deviation of physiologic measurements from normal and aggregating these penalties (also called “weights” or “subscores”) into a final score (or probability) for quantifying the severity of critical illness (or the likelihood of in-hospital mortality). Although these simple additive models are human readable and interpretable, their predictive performance needs to be further improved.

Methods

We present OASIS +, a variant of the Oxford Acute Severity of Illness Score (OASIS) in which an ensemble of 200 decision trees is used to predict in-hospital mortality based on the 10 same clinical variables in OASIS.

Results

Using a test set of 9566 admissions extracted from the MIMIC-III database, we show that OASIS + outperforms nine previously developed severity scoring methods (including OASIS) in predicting in-hospital mortality. Furthermore, our results show that the supervised learning algorithms considered in our experiments demonstrated higher predictive performance when trained using the observed clinical variables as opposed to OASIS subscores.

Conclusions

Our results suggest that there is room for improving the prognostic accuracy of the OASIS severity scores by replacing the simple linear additive scoring function with more sophisticated non-linear machine learning models such as RF and XGB.
Applied techniques for putting pre-visit planning in clinical practice to empower patient-centered care in the pandemic era: a systematic review and framework suggestion
Authors: Gholamzadeh Marsa , Abtahi Hamidreza , Ghazisaeeidi Marjan
Published: May 2021

Background

One of the main elements of patient-centered care is an enhancement of patient preparedness. Thus, pre-visit planning assessment tools was emerged to prepare and involve patients in their treatment process.

Objective

The main objective of this article was to review the applied tools and techniques for consideration of putting pre-visit planning into practice.

Methods

Web of Science, Scopus, IEEE, and PubMed databases were searched using keywords from January 2001 to November 2020. The review was completed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses checklist. Then, qualitative analysis was done to suggest an appropriate framework by mapping the main concepts.

Results

Out of 385 citations were retrieved in initial database searches, 49 studies from ten countries were included. Applied pre-visit techniques can be classified into eight categories. Our results showed that almost 81% of studies were related to procedures that were done between each visit, while 42% of articles were related to before visits. Accordingly, the main approach of included articles was patient preparedness. While 38 studies reported this approach is effective, three studies reported the effectiveness of such tools as moderate, only two articles believed it had a low effect on improving patient-centered care.

Conclusion

This survey summarized the characteristics of published studies on pre-visit planning in the proposed framework. This approach could enhance the quality of patient care alongside enhancement patient-provider communication. However, such an approach can also be helpful to control pandemic diseases by reducing unnecessary referrals.
Trends and equity in the use of health services in Spain and Germany around austerity in Europe
Authors: Moreno Almudena , Lostao Lourdes , Beller Johannes , Sperlich Stefanie , Ronda Elena , Geyer Siegfried , Pulido José , Regidor Enrique
Published: May 2021

Background

Following the 2008 economic crisis many countries implemented austerity policies, including reducing public spending on health services. This paper evaluates the trends and equity in the use of health services during and after that period in Spain – a country with austerity policies – and in Germany – a country without restriction on healthcare spending.

Methods

Data from several National Surveys in Spain and several waves of the Socio-Economic Panel in Germany, carried out between 2009 and 2017, were used. The dependent variables were number of doctor’s consultations and whether or not a hospital admission occurred. The measure of socioeconomic position was education. In each year, the estimates were made for people with and without pre-existing health problems. First, the average number of doctor’s consultations and the percentage of respondents who had had been hospitalized were calculated. Second, the relationship between education and use of those health services was estimated by calculating the difference in consultations using covariance analysis – in the case of number of consultations – and by calculating the percentage ratio using binomial regression – in the case of hospitalization.

Results

The annual mean number of consultations went down in both countries. In Spain the average was 14.2 in 2009 and 10.4 in 2017 for patients with chronic conditions; 16.6 and 13.5 for those with a mental illness; and 6.4 and 5.9 for those without a defined illness. In Germany, the averages were 13.8 (2009) and 12.9 (2017) for the chronic group; 21.1 and 17.0 for mental illness; and 8.7 and 7.5 with no defined illness. The hospitalization frequency also decreased in both countries. The majority of the analyses presented no significant differences in relation to education.

Conclusion

In both Spain and Germany, service use decreased between 2009 and 2017. In the first few years, this reduction coincided with a period of austerity in Spain. In general, we did not find socioeconomic differences in health service use.
Rapid sequence induction: where did the consensus go?
Authors: Avery Pascale , Morton Sarah , Raitt James , Lossius Hans Morten , Lockey David
Published: May 2021

Background

Rapid Sequence Induction (RSI) was introduced to minimise the risk of aspiration of gastric contents during emergency tracheal intubation. It consisted of induction with the use of thiopentone and suxamethonium with the application of cricoid pressure.

This narrative review describes how traditional RSI has been modified in the UK and elsewhere, aiming to deliver safe and effective emergency anaesthesia outside the operating room environment. Most of the key aspects of traditional RSI – training, technique, drugs and equipment have been challenged and often significantly changed since the procedure was first described. Alterations have been made to improve the safety and quality of the intervention while retaining the principles of rapidly securing a definitive airway and avoiding gastric aspiration. RSI is no longer achieved by an anaesthetist alone and can be delivered safely in a variety of settings, including in the pre-hospital environment.

Conclusion

The conduct of RSI in current emergency practice is far removed from the original descriptions of the procedure. Despite this, the principles – rapid delivery of a definitive airway and avoiding aspiration, are still highly relevant and the indications for RSI remain relatively unchanged.
Multi-omic profiling of lung and liver tumor microenvironments of metastatic pancreatic cancer reveals site-specific immune regulatory pathways
Authors: Ho Won Jin , Erbe Rossin , Danilova Ludmila , Phyo Zaw , Bigelow Emma , Stein-O’Brien Genevieve , Thomas Dwayne L. , Charmsaz Soren , Gross Nicole , Woolman Skylar , Cruz Kayla , Munday Rebecca M. , Zaidi Neeha , Armstrong Todd D. , Sztein Marcelo B. , Yarchoan Mark , Thompson Elizabeth D. , Jaffee Elizabeth M. , Fertig Elana J.
Published: May 2021

Background

The majority of pancreatic ductal adenocarcinomas (PDAC) are diagnosed at the metastatic stage, and standard therapies have limited activity with a dismal 5-year survival rate of only 8%. The liver and lung are the most common sites of PDAC metastasis, and each have been differentially associated with prognoses and responses to systemic therapies. A deeper understanding of the molecular and cellular landscape within the tumor microenvironment (TME) metastasis at these different sites is critical to informing future therapeutic strategies against metastatic PDAC.

Results

By leveraging combined mass cytometry, immunohistochemistry, and RNA sequencing, we identify key regulatory pathways that distinguish the liver and lung TMEs in a preclinical mouse model of metastatic PDAC. We demonstrate that the lung TME generally exhibits higher levels of immune infiltration, immune activation, and pro-immune signaling pathways, whereas multiple immune-suppressive pathways are emphasized in the liver TME. We then perform further validation of these preclinical findings in paired human lung and liver metastatic samples using immunohistochemistry from PDAC rapid autopsy specimens. Finally, in silico validation with transfer learning between our mouse model and TCGA datasets further demonstrates that many of the site-associated features are detectable even in the context of different primary tumors.

Conclusions

Determining the distinctive immune-suppressive features in multiple liver and lung TME datasets provides further insight into the tissue specificity of molecular and cellular pathways, suggesting a potential mechanism underlying the discordant clinical responses that are often observed in metastatic diseases.
Association of TNF-α -308G > A polymorphism with susceptibility to tendinopathy in athletes: a case–control study
Authors: Lopes Lucas Rafael , de Miranda Vitor Almeida Ribeiro , Guimarães João Antonio Matheus , de Araujo Souza Gabriel Garcez , Wainchtock Victor Soares , Grangeiro Neto João Alves , de Araújo Goes Rodrigo , Perini Jamila Alessandra
Published: May 2021

Background

High levels of the tumor necrosis factor alpha (TNF-α) induce apoptosis and pro-inflammatory effects for primary degeneration of tendon and development of tendinopathy. The aim of this study was to investigate the association between the TNF-α polymorphisms and tendinopathy in athletes.

Methods

Two hundred and seventy athletes (135 tendinopathy cases and 135 controls) were included and genotyped (TNF-α -1031T > C; -857 C > T; -308G > A) using TaqMan validated assays. The association of the polymorphisms with tendinopathy was evaluated by a multivariate logistic regression model, using odds ratios (OR) and 95 % confidence intervals (CI).

Results

The variant allele − 308 A was significantly associated with patellar (OR: 1.9; 95 % CI: 1.01–3.6) or Achilles tendinopathies (OR: 2.7; 95 % CI: 1.1–6.7). No significant differences were found in allele or genotype distributions of the − 1031T > C and − 857 C > T polymorphisms between cases and controls. TNF-α TCA haplotype was associated with increased tendinopathies risk, either considering all cases (OR: 2.6, 95 % CI: 1.3–5.3), patellar (OR: 3.3, 95 % CI: 1.5–7.3), rotator cuff (OR: 3.1, 95 % CI: 1.4–7.2) or Achilles tendinopathies (OR: 3.8, 95 % CI: 1.1–12.7).

Conclusions

These results suggest that the TNF-α polymorphisms could influence the susceptibility to developing tendinopathy among athletes. Knowledge of the TNF-α polymorphisms associated to tendinopathy in athletes can further understanding of the inflammatory role in the early stages of the disease and contribute for sports injury surveillance programmes, in which athletes with TNF-α TCA haplotype could be early subjected to cryotherapy after training and competition to avoid tendinopathy development.
Bayonet-shaped language development in autism with regression: a retrospective study
Authors: Gagnon David , Zeribi Abderrahim , Douard Élise , Courchesne Valérie , Rodríguez-Herreros Borja , Huguet Guillaume , Jacquemont Sébastien , Loum Mor Absa , Mottron Laurent
Published: May 2021

Background

Language delay is one of the major referral criteria for an autism evaluation. Once an autism spectrum diagnosis is established, the language prognosis is among the main parental concerns. Early language regression (ELR) is observed by 10–50% of parents but its relevance to late language level and socio-communicative ability is uncertain. This study aimed to establish the predictive value of ELR on the progression of language development and socio-communicative outcomes to guide clinicians in addressing parents’ concerns at the time of diagnosis.

Methods

We used socio-communicative, language, and cognitive data of 2,047 autism spectrum participants from the Simons Simplex Collection, aged 4–18 years (mean = 9 years; SD = 3.6). Cox proportional hazard and logistic regression models were used to evaluate the effect of ELR on language milestones and the probability of using complex and flexible language, as defined by the choice of ADOS module at enrollment. Linear models were then used to evaluate the relationship of ELR and non-verbal IQ with socio-communicative and language levels.

Results

ELR is associated with earlier language milestones but delayed attainment of fluent, complex, and flexible language. However, this language outcome can be expected for almost all autistic children without intellectual disability at 18 years of age. It is mostly influenced by non-verbal IQ, not ELR. The language and socio-communicative level of participants with flexible language, as measured by the Vineland and ADOS socio-communicative subscales, was not affected by ELR.

Limitations

This study is based on a relatively coarse measure of ultimate language level and relies on retrospective reporting of early language milestones and ELR. It does not prospectively document the age at which language catches up, the relationship between ELR and other behavioral areas of regression, nor the effects of intervention.

Conclusions

For autistic individuals with ELR and a normal level of non-verbal intelligence, language development follows a “bayonet shape” trajectory: early first words followed by regression, a plateau with limited progress, and then language catch up.
Vitamin D3 suppresses intestinal epithelial stemness via ER stress induction in intestinal organoids
Authors: Sittipo Panida , Kim Hyun Kyu , Han Jaeseok , Lee Man Ryul , Lee Yun Kyung
Published: May 2021

Background

Vitamin D3 is important for normal function of the intestinal epithelial cells (IECs). In this study, we aimed to investigate the effects of vitamin D3 on the differentiation, stemness, and viability of healthy IECs in intestinal organoids.

Methods

Intestinal organoids derived from mouse small intestine were treated with vitamin D3, and the effects on intestinal stemness and differentiation were evaluated using real-time PCR and immunofluorescence staining of the distinct lineage markers. Cell viability was analyzed using viability and apoptosis assays.

Results

Vitamin D3 enhanced IEC differentiation into the distinct lineages of specialized IECs, including Paneth, goblet, and enteroendocrine cells and absorptive enterocytes. Decreased expression levels of leucine-rich repeat-containing G-protein-coupled receptor 5 (LGR5) and the presence of several LGR5-green fluorescent protein (GFP)-positive cells were observed in vitamin D3-treated organoids derived from LGR5-GFP mice. The formation of the crypt-villus structure was also inhibited by vitamin D3, suggesting that vitamin D3 suppresses intestinal cell stemness. Furthermore, the expression levels of unfolded protein response genes, C/EBP homologous protein (CHOP), and activating transcription factor 6 (ATF6) were upregulated in vitamin D3-treated organoids. Moreover, vitamin D3 promoted apoptotic cell death in intestinal cells, which may be associated with the decrease in intestinal stemness. LGR5 gene expression, ISC number, and apoptotic cell death were partially recovered in the presence of the ER stress inhibitor tauroursodeoxycholic acid (TUDCA), suggesting that intestinal stemness suppression and intestinal apoptosis occurred via ER stress activation.

Conclusions

Our study provides important insights into the effects of vitamin D3 on the induction of IEC differentiation and apoptotic cell death, and inhibition of intestinal stemness accompanied by ER stress augmentation.