bluuebunny/crossref_metadata_2025 huggingface dataset:
Using Online Self-Management Diaries for Qualitative Research
Authors: Saeidzadeh Seyedehtanaz , Gilbertson-White Stephanie , Kwekkeboom Kristine L. , Babaieasl Faezeh , Seaman Aaron T.
Published: August 2021

Diaries are an underutilized tool in qualitative research addressing self-management. The “real time” data offered by the diaries provide an opportunity to capture details of self-management that otherwise may be missed during an interview. The purpose of this study is to describe the feasibility of using diaries for capturing self-management of post-treatment cancer survivors. The research questions are (1) how did participants engage with the diary? (2) what were participants’ evaluations of the self-management diary? and (3) how did the use of self-management diaries affect qualitative interviews and the interview data collected? We conducted a qualitative descriptive study, which comprised diary and semi-structured interview components to explore cancer survivors’ self-management activities. Participants were individuals diagnosed with head and neck or colorectal cancers at ages ≥18 years old who had completed primary treatment between 2–10 years prior. The diary instructions directed participants to document their self-management activities daily for 1 week before a scheduled interview. Data were analyzed using thematic analysis. The results showed (1) fifteen participants completed the diary and n = 9 completed all 7 days with detailed information regarding self-management. (2) A majority of the participants ( n = 13) found the diary easy to use. A few participants ( n = 3) shared individual-level challenges including preferring to document over several months, difficulty finding time to document, and difficulty putting thoughts into words. Suggestions to promote diary completion in future research included allowing participants to either document for only 1 day or allowing them to provide a summary of their weekly routine activities, sending reminders, and having more specific prompts. (3) For participants who completed the diary, we were able to customize the interview questions, which enhanced the richness of the interview data and captured greater complexity of self-management activities over time. Using diaries can promote the customization of interview questions and facilitate capturing rich interview data.
An emergency urology skills course for the multidisciplinary team
Authors: Gallagher Jessica , Crockett Matthew , McMeekin Faith
Published: August 2021

Urological presentations account for approximately 1.7% of emergency hospital admissions, 7.8–20% of the acute surgical take and 5–10% of visits to general practice. Training in this area is often unsatisfactory, with a third of final year medical students not feeling confident in managing urological emergencies and 6% receiving no exposure at all. Urology is a multidisciplinary speciality, and many emergency urological presentations require urgent treatment with specialised equipment or skills. A quality improvement project was set up at Gloucestershire Hospitals NHS Foundation Trust with the aim of improving experience and confidence among junior doctors and allied health-care professionals with common urological practical skills using a simulation-based course. There was an emphasis on multidisciplinary team working to mirror the clinical environment. Pre-course questionnaires showed that most participants lacked confidence with common urology practical skills, such as haematuria management (80–85%), nephrostomy management (93–95%) and suprapubic catheters (93–100%). After attending the course, confidence improved in all skills, and participant satisfaction was high, with 100% finding the course relevant to clinical practice. The course was run at low cost, free to participants and without the need for long periods of study leave, making it accessible to all. We suggest the model of this course could be easily transferred to other hospital trusts and applied to other surgical specialities for similar simulated training.

Level of evidence: Level 5.
Investigating deception and the impacts on online game players’ choice in China
Authors: Zhao Mujie , Thadani Dimple R
Published: August 2021

This article aims to present and analyse the relationship between online game companies and players under four types of deceptions in Chinese game market: mechanism imitation, direct rip off, top-up enticement and negative marketing. The main purpose of this article was to understand how deception affects players’ decision and which type of player is ‘sensitive’ when deception happened. There are 356 valid survey results about attitude to deception collected from players on social network. MGPM* model is used as the data analysis method. Analysis revealed that top-up enticement reduces players’ motivation at highest extent. Players motivated by ‘derivative motivation’ are sensitive and more tend to quit game than those motivated by ‘general motivation’. This research indicates if game company figured out player group structure, when facing survival problem, it can adjust operation strategy by adding deceptions with innocuous effect to players’ motivation to cut operational cost. Meanwhile, the research supplied supporting evidence saying leading companies in game industry should adjust its strategy, changing cognition to growth, reducing deception separation among players and operating from the industrial health perspective.
Using Scaffolding Materials to Facilitate Autonomous Online Chinese as a Foreign Language Learning: A Study During the COVID-19 Pandemic
Authors: Chen Chen
Published: August 2021

This study explores international Chinese as a foreign language students’ use of embedded scaffolding materials to facilitate their learning in an autonomous online context during the COVID-19 pandemic. A total of 60 international students enrolled in a Chinese university participated in the study. Data were collected via participants’ reflective reports, online tutorials, and individual interviews. This study found that scaffolding materials could be a good facilitator to enhance international students’ autonomy regarding Chinese language skill learning online, which was not a linear process but a recursive changing one. In terms of cultural learning, scaffolding materials were less effective on promoting students’ online learning autonomy. Students preferred teachers’ assistance to their cultural element learning and problem-solving. These findings shed light on online Chinese education during and after the COVID-19 pandemic, when Learn From Home policy of Chinese universities will last for a long time. A longer process of investigation from both qualitative and quantitative perspectives for international students’ autonomous online language learning is recommended for future studies.
Dissecting Medical Litigation: An Analysis of Canadian Legal Cases in Plastic Surgery
Authors: ElHawary Hassan , Aldien Ammar Saed , Gorgy Andrew , Salimi Ali , Gilardino Mirko S
Published: August 2021

Introduction: Plastic surgeons are more likely to face medical litigation, compared to other specialists. Although this has been previously studied in other countries, there is a paucity of data regarding legal medical cases within Canada. The goal of this study was to compile and analyze all medical litigations in plastic surgery in Canada and identify themes associated them. Methods: A systematic search of the 2 largest Canadian online legal databases, LexisNexis Canada and WestLawNext Canada, was conducted to retrieve all legal medical cases against plastic surgeons in Canadian courts. Quantitative and qualitative analyses were performed to dissect the characteristics of plastic surgery litigation in Canada. Results: A total of 105 legal cases were included in this analysis, including 81 lawsuits and 24 appeals. The preponderance of cases was related to breast surgeries (47.0%), followed by head and neck surgeries (18.1%), with 76.5% being related to cosmetic surgery; 64.2% were ruled in favour of the surgeon. The lack of preoperative informed consent was highly associated with a final ruling in favour of the patient ( P < .0001). The average monetary value of damages awarded was $61 076. There was no significant difference in monetary value between cosmetic and reconstructive cases. Conclusion: The majority of medical litigation in plastic surgery in Canada is associated with cosmetic surgeries, most commonly of the breast. Lack of informed consent is associated with judicial rulings in favour of patients. By understanding the themes underlying these legal cases, we hope to highlight the main issues that lead to litigation in plastic surgery.
The State of Black Male Literacy Research, 1999–2020
Authors: Tatum Alfred W. , Johnson Aaron , McMillon David
Published: August 2021

In this report, the authors describe the scope and scale of Black male literacy research; discuss theories, conceptual frames, and groundings informing the research on Black male literacy education in grades preK–12; and offer insights on Black male literacy research based on the current state of research. Each is based on an extensive review of quantitative and qualitative literacy research studies from 1999 to 2020 with primary or secondary data analysis solely or predominantly focused on Black males in grades preK–12. Four directions for future research are offered to nurture a scientific culture on Black male literacy education to address the methodological possibilities to capture the complexities of the literacy education of Black males across multiple contexts (e.g., in school, out of school), multiple locations (e.g., urban, rural, and suburban), and school types (traditional public, private, parochial, charter, home, boarding).
Intello Labs: Non-Destructive Digital Commodity Grading
Authors: Ghosh Arunava , Sengupta Tuhin
Published: August 2021

This case illustrates Intello Labs, a leading agri-tech company, operating out of Gurgaon. As an agri-tech company, Intello Labs is trying to create an artificial intelligence (AI)-based solution model for its clients. The case dives deep into the issues of degrading farm productivity being faced by Kerala Cardamom Processing and Marketing Company (KCPMC), a client of Intello Labs. The case stands out as a means for understanding the application of the AI-based solutions being offered by Intello Labs to solve the degrading farm productivity issue of KCPMC. It addresses the concerns of the current agricultural-based businesses which mostly depend on manual commodity grading.
Scrotal bridge flap reconstructive surgery for extensive penile paraffinoma: steps and outcomes from a single center: a case series
Authors: Khairudin Muhammad Arif , Salauddin Syahril Anuar , Ghazali Hamid
Published: August 2021

Background

To describe our scrotal bridge flap technique in reconstructive surgery for extensive penile paraffinoma, a debilitating late complication of penile subcutaneous foreign material injection intended to achieve penile augmentation.

Case presentation

We reviewed the medical records of 10 patients who underwent reconstructive surgery with the scrotal bridge flap technique for penile paraffinoma at our center between 2016 and 2019. Complete excision of fibrotic tissue and the overlying skin was performed, and penile resurfacing was achieved by mobilizing the scrotal skin superiorly to wrap around the penile shaft, leaving a skin bridge at the median raphe. All 10 patients successfully underwent scrotal bridge flap penile reconstruction with satisfying results. The mean operation duration was 286.1 min (range 213–363 min). No immediate major complications were observed in any of the patients, and no patients required revision surgery.

Conclusion

The scrotal bridge flap technique is a reliable method for reconstructive surgery after the excision of penile paraffinoma.
Sociodemographic characteristics and transmission risk factors in patients hospitalized for COVID-19 before and during the lockdown in France
Authors: Rahi Mayda , Le Pluart Diane , Beaudet Alexandra , Ismaël Sophie , Parisey Marion , Poey Nora , Tarhini Hassan , Lescure François-Xavier , Yazdanpanah Yazdan , Deconinck Laurène
Published: August 2021

Background

The efficacy of lockdown in containing the COVID-19 pandemic has been reported in different studies. However, the impact on sociodemographic characteristics of individuals infected with SARS-CoV-2 has not been evaluated. The aim of this study was to describe the changes in sociodemographic characteristics of patients hospitalized for COVID-19 and to compare the transmission risk factors of COVID-19 before and during lockdown in France.

Methods

An observational retrospective study was conducted in a University Hospital in Paris, France. Data from patients hospitalized for COVID-19 in the Infectious Diseases Department between February 26 and May 11, 2020 were collected. The study population was divided into 2 groups: group A of patients infected before lockdown, and group B of patients infected during lockdown, considering a maximum incubation period of 14 days. Sociodemographic characteristics and transmission risk factors were compared between the 2 groups using Student’s t-test for continuous variables and Chi-2 test or Fisher exact test for categorical variables.

Results

Three hundred eighty-three patients were included in the study, 305 (79.6%) in group A and 78 (20.4%) in group B. Patients in group A were significantly younger (60.0 versus (vs) 66.5 years (p = 0.03)). The professionally active population was larger in group A (44.3% vs 24.4%). There were significantly more non-French-speaking people in group B (16.7% vs 6.6%,p <  0.01). Most patients from group A had individual accommodation (92.8% vs 74.4%, p <  0.01). Contact with a relative was the main transmission risk factor in both groups (24.6% vs 33.3%,p = 0.16). Recent travel and large gathering were found only in group A. The proportion of people living in disadvantaged conditions, such as homeless people or people living in social housing, was significantly higher in group B (11.5% vs 4.3%,p = 0.03) as was the proportion of institutionalized individuals (14.1% vs 3.0%,p <  0.01).

Conclusions

In this study conducted in patients hospitalized for COVID-19 in Paris, France, the likelihood of being infected despite the lockdown was higher for people who do not speak French, live in social housing, are homeless or institutionalized. Targeted measures have to be implemented to protect these populations.
Efficiency of a deep learning-based artificial intelligence diagnostic system in spontaneous intracerebral hemorrhage volume measurement
Authors: Wang Tao , Song Na , Liu Lingling , Zhu Zichao , Chen Bing , Yang Wenjun , Chen Zhiqiang
Published: August 2021

Background

Accurate measurement of hemorrhage volume is critical for both the prediction of prognosis and the selection of appropriate clinical treatment after spontaneous intracerebral hemorrhage (ICH). This study aimed to evaluate the performance and accuracy of a deep learning-based automated segmentation algorithm in segmenting spontaneous intracerebral hemorrhage (ICH) volume either with or without intraventricular hemorrhage (IVH) extension. We compared this automated pipeline with two manual segmentation techniques.

Methods

We retrospectively reviewed 105 patients with acute spontaneous ICH. Depending on the presence of IVH extension, patients were divided into two groups: ICH without (n = 56) and with IVH (n = 49). ICH volume of the two groups were segmented and measured using a deep learning-based artificial intelligence (AI) diagnostic system and computed tomography-based planimetry (CTP), and the ABC/2 score were used to measure hemorrhage volume in the ICH without IVH group. Correlations and agreement analyses were used to analyze the differences in volume and length of processing time among the three segmentation approaches.

Results

In the ICH without IVH group, the ICH volumes measured using AI and the ABC/2 score were comparable to CTP segmentation. Strong correlations were observed among the three segmentation methods (r = 0.994, 0.976, 0.974; P < 0.001; concordance correlation coefficient [CCC] = 0.993, 0.968, 0.967). But the absolute error of the ICH volume measured by the ABC/2 score was greater than that of the algorithm (P < 0.05). In the ICH with IVH group, there is no significant differences were found between algorithm and CTP(P = 0.614). The correlation and agreement between CTP and AI were strong (r = 0.996, P < 0.001; CCC = 0.996). The AI segmentation took a significantly shorter amount of time than CTP (P < 0.001), but was slightly longer than ABC/2 score technique (P = 0.002).

Conclusions

The deep learning-based AI diagnostic system accurately quantified volumes of acute spontaneous ICH with high fidelity and greater efficiency compared to the CTP measurement and more accurately than the ABC/2 scores. We believe this is a promising tool to help physicians achieve precise ICH quantification in practice.
Corticosteroid switch from prednisone to dexamethasone in metastatic castration-resistant prostate cancer patients with biochemical progression on abiraterone acetate plus prednisone
Authors: Yang Zhenyu , Ni Yuchao , Zhao Diwei , Zhang Yijun , Wang Jun , Jiang Lijuan , Chen Dong , Wu Zhiming , Wang Yanjun , He Liru , Shi Yanxia , Zhou Fangjian , Zeng Hao , Li Yonghong
Published: August 2021

Background

To assess the efficacies and potential predictors of a corticosteroid switch in metastatic castration-resistant prostate cancer (mCRPC) patients with biochemical progression on abiraterone acetate plus prednisone (A + P).

Methods

Patients with mCRPC treated between April 2016 and August 2020, who experienced biochemical progression on A + P and then switched to A plus dexamethasone (D), were retrospectively identified. The primary endpoint was progression-free survival (PFS), and the secondary endpoints were PSA response, overall survival (OS), and safety.

Results

One hundred and thirty consecutive cases were enrolled. The median PFS and OS on A + D were 5.0 and 18.7 months, respectively. The best PSA decline of ≥50% (PSA50) and ≥ 30% (PSA30) were observed in 29.2 and 46.2% patients, respectively. Lower PSA at corticosteroid switch (≤ 20 ng/mL; median PFS, HR 0.63,p = 0.019; median OS, HR 0.38,p = 0.001) and longer mCRPC-free survival (≥ 18 months; median PFS, HR 0.61,p = 0.013; median OS, HR 0.51,p = 0.015) were identified as independent prognostic predictors associated with longer PFS and OS. A risk stratification tool was developed to select candidates for corticosteroid switch based on the independent prognostic predictors of PFS and OS.

Conclusions

A corticosteroid switch from prednisone to dexamethasone is effective for mCRPC which progressed on A + P treatment. Patients with lower PSA at corticosteroid switch and/or longer mCRPC-free survival may gain more benefits by the corticosteroid switch.
Outcome and prognostic factors after lung transplantation for bronchiectasis other than cystic fibrosis
Authors: Hirama Takashi , Tomiyama Fumiko , Notsuda Hirotsugu , Watanabe Tatsuaki , Watanabe Yui , Oishi Hisashi , Okada Yoshinori
Published: August 2021

Background

While lung transplant (LTX) can be an effective therapy to provide the survival benefit in selected populations, post-transplant outcome in LTX recipients with bronchiectasis other than cystic fibrosis (CF) has been less studied.Pseudomonas aeruginosa, often associated with exacerbations in bronchiectasis, is the most common micro-organism isolated from LTX recipients. We aimed to see the outcomes of patients with bronchiectasis other than CF after LTX and seek the risk factors associated with pre- and post-transplantPseudomonasstatus.

Methods

Patients who underwent LTX at Tohoku University Hospital between January 2000 and December 2020 were consecutively included into the retrospective cohort study. Pre- and post-transplant prevalence ofPseudomonascolonization between bronchiectasis and other diseases was reviewed. Post-transplant outcomes (mortality and the development of chronic lung allograft dysfunction (CLAD)) were assessed using a Cox proportional hazards and time-to-event outcomes were estimated using the Kaplan–Meier method.

Results

LTX recipients with bronchiectasis experienced a high rate of pre- and post-transplantPseudomonascolonization compared to other diseases with statistical significance (p < 0.001 andp < 0.001, respectively). Nevertheless, long-term survival in bronchiectasis was as great as non-bronchiectasis (Log-rankp = 0.522), and the bronchiectasis was not a trigger for death (HR 1.62, 95% CI 0.63–4.19). On the other hand, the chance of CLAD onset in bronchiectasis was comparable to non-bronchiectasis (Log-rankp = 0.221), and bronchiectasis was not a predictor of the development of CLAD (HR 1.88, 95% CI 0.65–5.40).

Conclusions

Despite high prevalence of pre- and post-transplantPseudomonascolonization, the outcome in LTX recipients with bronchiectasis other than CF was comparable to those without bronchiectasis.
Which factors influence treatment decision in fragility fractures of the pelvis? - results of a prospective study
Authors: Oberkircher Ludwig , Lenz Julia , Bücking Benjamin , Eschbach Daphne , Aigner René , Bliemel Christopher , Schoeneberg Carsten , Ruchholtz Steffen , Hack Juliana
Published: August 2021

Background

The aim of the present study was to describe specific characteristics of patients suffering from pelvic fragility fractures and evaluate factors that might influence treatment decisions which may optimize treatment pathways and patient mobility in the future.

Methods

A prospective study with patients suffering from fractures of the pelvis and aged 60 years or above was performed between 2012 and 2016. Data acquisition took place at admission, every day during hospitalization and at discharge.

Results

One hundred thirty-four patients (mean age of 79.93 (± 7.67) years), predominantly female (84%), were included. Eighty-six patients were treated non-operatively. Forty-eight patients underwent a surgical procedure. The main fracture types were B2 fractures (52.24%) and FFP IIb fractures (39.55%). At the time of discharge, pain level (NRS) could be significantly reduced (p <  0.001). Patients who underwent a surgical procedure had a significantly higher pain level on day three and four compared to the non-operative group (p = 0.032 and p = 0.023, respectively). Significant differences were found in the mobility level: patients treated operatively on day four or later were not able to stand or walk on day three as compared to non-operatively treated patients. Regarding B2 fractures, a significantly higher mobility level difference between time of admission and discharge was found in patients treated with a surgical procedure compared to patients treated non-operatively (p = 0.035).

Conclusions

Fracture type, mobility level and pain level influence the decision to proceed with surgical treatment. Especially patients suffering from B2 fractures benefitted in terms of mobility level at discharge when treated operatively.

Level of evidence

II
No staghorn calculi and none/mild hydronephrosis may be risk factors for severe bleeding complications after percutaneous nephrolithotomy
Authors: Dong Xue , Wang Dongnv , Zhang Huangqi , You Shuzong , Pan Wenting , Pang Peipei , Chen Chaoqian , Hu Hongjie , Ji Wenbin
Published: August 2021

Background

To explore the risk factors for severe bleeding complications after percutaneous nephrolithotomy (PCNL) according to the modified Clavien scoring system.

Methods

We retrospectively analysed 2981 patients who received percutaneous nephrolithotomies from January 2014 to December 2020. Study inclusion criteria were PCNL and postoperative mild or severe renal haemorrhage in accordance with the modified Clavien scoring system. Mild bleeding complications included Clavien 2, while severe bleeding complications were greater than Clavien 3a. It has a good prognosis and is more likely to be underestimated and ignored in retrospective studies in bleeding complications classified by Clavien 1, so no analysis about these was conducted in this study. Clinical features, medical comorbidities and perioperative characteristics were analysed. Chi-square, independent t tests, Pearson’s correlation, Fisher exact tests, Mann–Whitney and multivariate logistic regression were used as appropriate.

Results

Of the 2981 patients 70 (2.3%), met study inclusion criteria, consisting of 51 men and 19 women, 48 patients had severe bleeding complications. The remaining 22 patients had mild bleeding. Patients with postoperative severe bleeding complications were more likely to have no or slight degree of hydronephrosis and have no staghorn calculi on univariate analysis (p < 0.05). Staghorn calculi (OR, 95% CI, p value 0.218, 0.068–0.700, 0.010) and hydronephrosis (OR, 95% CI, p value 0.271, 0.083–0.887, 0.031) were independent predictors for severe bleeding via multivariate logistic regression analysis. Other factors, such as history of PCNL, multiple kidney stones, site of puncture calyx and mean corrected intraoperative haemoglobin drop were not related to postoperative severe bleedings.

Conclusions

The absence of staghorn calculi and a no or mild hydronephrosis were related to an increased risk of post-percutaneous nephrolithotomy severe bleeding complications.
Circulating levels of FAM19A5 are inversely associated with subclinical atherosclerosis in non-alcoholic fatty liver disease
Authors: Yari Fatemeh Ali , Shabani Parisa , Karami Sara , Sarmadi Negar , Poustchi Hossein , Bandegi Ahmad Reza
Published: August 2021

Background

Family with sequence similarity 19 (chemokine (C-C motif)-like) member A5 (FAM19A5) is a newly identified adipokine. There is a limited number of studies linking FAM19A5 to metabolic disorders. In the current study, we aimed to explore if FAM19A5 is associated with nonalcoholic fatty liver disease (NAFLD). We also sought to determine the possibility of FAM19A5 association with subclinical atherosclerosis in NAFLD patients.

Methods

A total of 69 subjects including 37 NAFLD and 32 control subjects were included in this cross-sectional study. Plasma concentration of FAM19A5 was measured with the ELISA method. Carotid artery intima-media thickness (cIMT) was assessed by the ultrasonography.

Results

Plasma concentration of FAM19A5 in patients with NAFLD was significantly lower in NAFLD patients than controls. Moreover, we observed significant negative correlations between plasma level of FAM19A5 and body mass index (BMI), visceral fat, alanine amino transferase (ALT), aspartate amino transferase (AST), liver stiffness (LS), and cIMT. Following stepwise multiple linear regression analysis, ALT and cIMT were the only determinants of FAM19A5 level.

Conclusions

This is the first report to describe association of circulating FAM19A5 levels with NAFLD. Our findings provide further evidence showing relation of FAM19A5 with the risk of atherosclerosis. However, more studies are necessary to unravel the contribution of lower FAM19A5 levels to the NAFLD pathogenesis and the higher risk of atherosclerosis in these patients.
Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report
Authors: Chen JiaQi , Lu Ting , Liu ChenXiao , Zhao Yun , Huang AiJie , Hu XingNa , Li Min , Xiang Rong , Feng Min , Lu HongHong
Published: August 2021

Background

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency.

Case presentation

We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene —the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150–45,706,528)*1 on the other.

Conclusions

This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.
Use of palliative radiotherapy among patients with metastatic non-small-cell lung cancer in Puerto Rico
Authors: Quiñones-Avila Valerie , Ortiz-Ortiz Karen J. , Ríos-Motta Ruth , Marín-Centeno Heriberto , Tortolero-Luna Guillermo
Published: August 2021

Background

Palliative radiotherapy (RT) represents an important treatment opportunity for improving the quality of life in metastatic non-small cell lung cancer (NSCLC) patients through the management of symptoms within the course of the illness. The aim of the study is to determine the proportion of patients who had palliative RT within 12 months of diagnosis and evaluate the factors associated with it.

Methods

A retrospective cohort study was performed using secondary data analysis from 2009 to 2015 from the Puerto Rico Central Cancer Registry–Health Insurance Linkage Database (PRCCR-HILD). A logistic regression model was used to examine factors associated with palliative RT.

Results

Among the 929 patients identified with metastatic NSCLC, 33.80% received palliative RT within the first year after diagnosis. After adjusting for other covariates, receipt of chemotherapy (ORAdj = 3.90; 95% CI = 2.91–5.45; P < 0.001) and presence of symptoms (ORAdj = 1.41; 95% CI =1.00–1.98; P = 0.045) were associated with increased odds of palliative RT use. Although marginally significant, patients with private health insurance had increased odds of palliative RT use (ORAdj = 1.50; 95% CI = 0.98–2.29; P = 0.061) when compared to beneficiaries of Medicaid, after adjusting by other covariates.

Conclusions

The results of this study reveal concerning underuse of palliative RT among patients with metastatic NSCLC in Puerto Rico. Additional research is necessary to further understand the barriers to using palliative RT on the island.
Addressing an HIV cure in LMIC
Authors: Ismail Sherazaan D. , Pankrac Joshua , Ndashimye Emmanuel , Prodger Jessica L. , Abrahams Melissa-Rose , Mann Jamie F. S. , Redd Andrew D. , Arts Eric J.
Published: August 2021

HIV-1 persists in infected individuals despite years of antiretroviral therapy (ART), due to the formation of a stable and long-lived latent viral reservoir. Early ART can reduce the latent reservoir and is associated with post-treatment control in people living with HIV (PLWH). However, even in post-treatment controllers, ART cessation after a period of time inevitably results in rebound of plasma viraemia, thus lifelong treatment for viral suppression is indicated. Due to the difficulties of sustained life-long treatment in the millions of PLWH worldwide, a cure is undeniably necessary. This requires an in-depth understanding of reservoir formation and dynamics. Differences exist in treatment guidelines and accessibility to treatment as well as social stigma between low- and-middle income countries (LMICs) and high-income countries. In addition, demographic differences exist in PLWH from different geographical regions such as infecting viral subtype and host genetics, which can contribute to differences in the viral reservoir between different populations. Here, we review topics relevant to HIV-1 cure research in LMICs, with a focus on sub-Saharan Africa, the region of the world bearing the greatest burden of HIV-1. We present a summary of ART in LMICs, highlighting challenges that may be experienced in implementing a HIV-1 cure therapeutic. Furthermore, we discuss current research on the HIV-1 latent reservoir in different populations, highlighting research in LMIC and gaps in the research that may facilitate a global cure. Finally, we discuss current experimental cure strategies in the context of their potential application in LMICs.
May critical molecular cross-talk between indoleamine 2,3-dioxygenase (IDO) and arginase during human aging be targets for immunosenescence control?
Authors: da Silva Ismael Dale Cotrim Guerreiro , Marchioni Dirce Maria Lobo , Carioca Antonio Augusto Ferreira , Bueno Valquiria , Colleoni Gisele Wally Braga
Published: August 2021

Background

This study aimed to identify novel plasma metabolic signatures with possible clinical relevance during the aging process. A biochemical quantitative phenotyping platform, based on targeted electrospray ionization tandem mass spectrometry technology, was used for the identification of any eventual perturbed biochemical pathway by the aging process in prospectively collected peripheral blood plasma from 166 individuals representing the population of São Paulo city, Brazil.

Results

Indoleamine 2,3-dioxygenase (IDO) activity (Kyn/Trp) was significantly elevated with age, and among metabolites most associated with elevations in IDO, one of the strongest correlations was with arginase (Orn/Arg), which could also facilitate the senescence process of the immune system. Hyperactivity of IDO was also found to correlate with increased blood concentrations of medium-chain acylcarnitines, suggesting that deficiencies in beta-oxidation may also be involved in the immunosenescence process. Finally, our study provided evidence that the systemic methylation status was significantly increased and positively correlated to IDO activity.

Conclusions

In the present article, besides identifying elevated IDO activity exhibiting striking parallel association with the aging process, we additionally identified increased arginase activity as an underlying biochemical disturbance closely following elevations in IDO. Our findings support interventions to reduce IDO or arginase activities in an attempt to preserve the functionality of the immune system, including modulation of myeloid-derived suppressor cells (MDSCs), T cells, macrophages, and dendritic cells’ function, in old individuals/patients.
Orthopedic management of myelomeningocele with a multidisciplinary approach: a systematic review of the literature
Authors: Shobeiri Parnian , Presedo Ana , Karimi Amirali , Momtazmanesh Sara , Vosoughi Fardis , Nabian Mohammad Hossein
Published: August 2021

Background

Myelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the multidisciplinary management of MMC has become popular. Herein, we aimed to review the orthopedic management, outcomes, and complications of the of patients with MMC eyeing a multidisciplinary approach.

Methods

We searched PubMed and EMBASE to find relevant studies published before August 2020. All studies that included clinical management of MMC patients and published earlier than 2000 were considered for review on the condition that they reported at least one orthopedic intervention and the rate of complications. We excluded review articles, case reports, case series, letters, commentaries, editorials, and conference abstracts. The primary and secondary goals of our review were to report the outcomes and complication rates of multidisciplinary management for MMC patients.

Results

Twenty-six studies included data for the management of 229,791 patients with MMC and were selected. Sixteen studies reported multidisciplinary management in addition to orthopedic management. From those, 11 (42.31%) included urologic management, 13 (50%) neurosurgical management, 11 (42.31%) neurologic management, and 5 (19.23%) gastrointestinal management. All studies included postnatal operations and related management. No randomized clinical trial was found in our search.

Conclusion

Orthopedic approaches play a key role in MMC management by alleviating spinal deformities, particularly scoliosis, and hip, foot, and ankle complications. However, the most appropriate management, whether surgical or non-surgical, may vary for different patients, given disease severity and the age of patients.

Graphical abstract
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
Authors: Lin Yiming , Wang Wenjun , Lin Chunmei , Zheng Zhenzhu , Fu Qingliu , Peng Weilin , Chen Dongmei
Published: August 2021

Background

Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. This study aimed to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 identified through NBS.

Results

From January 2014 to September 2020, 517,484 newborns were screened by tandem mass spectrometry, 102 newborns with elevated glutarylcarnitine (C5DC) levels were called back. Thirteen patients were diagnosed with GA1, including 11 neonatal GA1 and two maternal GA1 patients. The incidence of GA1 in the Quanzhou region was estimated at 1 in 47,044 newborns. The initial NBS results showed that all but one of the patients had moderate to markedly increased C5DC levels. Notably, one neonatal patient with low free carnitine (C0) level suggest primary carnitine deficiency (PCD) but was ultimately diagnosed as GA1. Nine neonatal GA1 patients underwent urinary organic acid analyses: eight had elevated GA and 3HGA levels, and one was reported to be within the normal range. Ten distinct GCDH variants were identified. Eight were previously reported, and two were newly identified. In silico prediction tools and protein modeling analyses suggested that the newly identified variants were potentially pathogenic. The most common variant was c.1244-2 A>C, which had an allelic frequency of 54.55% (12/22), followed by c.1261G>A (p.Ala421Thr) at 9.09% (2/22).

Conclusions

Neonatal GA1 patients with increased C5DC levels can be identified through NBS. Maternal GA1 patients can also be detected using NBS due to the low C0 levels in their infants. Few neonatal GA1 patients may have atypical acylcarnitine profiles that are easy to miss during NBS; therefore, multigene panel testing should be performed in newborns with low C0 levels. This study indicates that the GCDH variant spectra were heterogeneous in this southern Chinese cohort.
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation
Authors: Hong Dian , Zheng Ying-Yi , Xin Ying , Sun Ling , Yang Hang , Lin Min-Yin , Liu Cong , Li Bo-Ning , Zhang Zhi-Wei , Zhuang Jian , Qian Ming-Yang , Wang Shu-Shui
Published: August 2021

Background

Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and the screening of GSs by facial recognition technology has become feasible. This study constructed an automatic facial recognition model for the identification of children with GSs.

Results

A total of 456 frontal facial photos were collected from 228 children with GSs and 228 healthy children in Guangdong Provincial People's Hospital from Jun 2016 to Jan 2021. Only one frontal facial image was selected for each participant. The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture was constructed. The performance of the VGG-16 model was evaluated by five-fold cross-validation. Comparison of VGG-16 model to five physicians were also performed. The VGG-16 model achieved the highest accuracy of 0.8860 ± 0.0211, specificity of 0.9124 ± 0.0308, recall of 0.8597 ± 0.0190, F1-score of 0.8829 ± 0.0215 and an area under the receiver operating characteristic curve of 0.9443 ± 0.0276 (95% confidence interval: 0.9210–0.9620) for GS screening, which was significantly higher than that achieved by human experts.

Conclusions

This study highlighted the feasibility of facial recognition technology for GSs identification. The VGG-16 recognition model can play a prominent role in GSs screening in clinical practice.
The bilateral limb deficit (BLD) phenomenon during leg press: a preliminary investigation into central and peripheral factors
Authors: Whitcomb Emily , Ortiz Oscar , Toner Jacqueline , Kuruganti Usha
Published: August 2021

Background

The bilateral limb deficit (BLD) phenomenon suggests that lower forces are produced with bilateral limb contractions compared to the summed force produced when the same muscles are contracted unilaterally. While interhemispheric inhibition has been suggested as a cause of BLD, the origin of the deficit is yet to be determined. The aim of this study was to investigate central and peripheral factors responsible for the BLD during leg press using surface electromyography (EMG) and electroencephalography (EEG).

Methods

Fourteen adults (age = 23.7 ± 4.7 years old) completed bilateral (BL), unilateral left (UL) and unilateral right (UR) isometric leg press exercises. Bilateral limb ratio (BLR) was calculated similar to previous studies and surface EMG from three muscles of the quadriceps femoris (vastus lateralis, vastus medialis and rectus femoris) was used to measure the level of muscle activation. Movement related cortical potentials (MRCPs) over the left and right motor cortex areas (C3 and C4, respectively) were used to assess brain activity asymmetries reflecting central factors.

Results

No significant difference was noted in the mean BLR (BLR = 94.8%), but a subset of ten participants did demonstrate a BLD (BLR = 81.4%,p < 0.01). Mean differences in relative activation were found among the three quadricep muscles (p < 0.001) with the right VM having significantly higher amplitude for the unilateral right (0.347 ± 0.318 mV) and bilateral right (0.436 ± 0.470 mV) conditions, respectively) than either the VL or RF (p < 0.05). The VL had significantly lower amplitudes in all conditions (0.127 ± 0.138 mV; 0.111 ± 0.104 mV; 0.120 ± 0.105 mV; 0.162 ± 0.147 mV for unilateral left, bilateral left, unilateral right, and bilateral right, respectively). However no overall significant differences were noted between bilateral and unilateral conditions. No significant differences in MRCPs were observed between brain activity of the C3 and C4 electrodes in any of the conditions.

Conclusion

While the sample size was low, this exploratory study noted the presence of BLD however the results did not provide evidence of significant limitations in either the EMG or EEG data.
Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory
Authors: Salles Juliette , Eddiry Sanaa , Lacassagne Emmanuelle , Laurier Virginie , Molinas Catherine , Bieth Éric , Franchitto Nicolas , Salles Jean-Pierre , Tauber Maithé
Published: August 2021

Background

Prader–Willi syndrome is a rare genetic neurodevelopmental disorder caused by a paternal deficiency of maternally imprinted gene expression located in the chromosome 15q11–q13 region. Previous studies have demonstrated that several classes of neurodevelopmental disorders can be attributed to either over- or under-expression of specific genes that may lead to impairments in neuronal generation, differentiation, maturation and growth. Epigenetic changes that modify gene expression have been highlighted in these disorders. One recent study focused on epigenetic analysis and compared patients with PWS with patients with other imprinting disorders. No study, however, has yet focused on epigenetics in patients with PWS specifically by comparing the mutations associated with this syndrome.

Objective

This study investigated the epigenetic modifications in patients with PWS and patients with PWS-related disorders caused by inactivation of two genes of the PWS chromosomal region, SNORD116andMAGEL2. Our approach also aimed to compare the epigenetic modifications in PWS and PWS-related disorders.

Methods

We compared genome-wide methylation analysis (GWAS) in seven blood samples from patients with PWS phenotype (five with deletions of the PWS locus, one with a microdeletion ofSNORD116and one with a frameshift mutation ofMAGEL2presenting with Schaaf–Yang syndrome), as well as two control patients. Controls were infants that had been studied for suspicion of genetic diseases that was not confirmed by the genetic analysis and the clinical follow-up.

Results

The analysis identified 29,234 differentially methylated cytosines, corresponding to 5,308 differentially methylated regions (DMRs), which matched with 2,280 genes. The DMRs in patients with PWS were associated with neurodevelopmental pathways, endocrine dysfunction and social and addictive processes consistent with the key features of the PWS phenotype. In addition, the separate analysis for theSNORD116andMAGEL2deletions revealed that the DMRs associated with theSNORD116microdeletion were found in genes implicated in metabolic pathways and nervous system development, whereasMAGEL2mutations mostly concerned genes involved in macromolecule biosynthesis.

Conclusion

The PWS is associated with epigenetic modifications with differences inSNORD116andMAGEL2mutations, which seem to be relevant to the different associated phenotypes.
Educational level, ethnicity and mortality rates in Israel: national data linkage study
Authors: Goldberger Nehama Frimit , Haklai Ziona
Published: August 2021

Background

Many studies have shown significant gaps in mortality, and cause specific mortality by educational status. This study investigated these measures in Israel by educational and ethnic status in recent decades.

Method

A mortality follow-up till 2017 was done of a cohort of Israeli residents aged 25–64 in 2000 who remained in Israel and had available educational data, grouped into under 8, 9–11, 12, 13–15 and 16 and above years of education. Indirect age adjustment was used to calculate Standard Mortality Ratios (SMRs) by sex and educational group, and a Cox regression model to assess relative risk of total and cause specific mortality controlling for age and ethnic group (Jews and Others and Arabs).The analysis was repeated for each ethnic group separately.

Results

2,776,422 persons were included of whom 174,792 (6.3%) died till 2017. SMR’s for total mortality of males and females with less than 8 years of education compared to 16 and over were 2.2 and 1.8, respectively. Corresponding HR were 2.13 (95% CI 2.08–2.18) and 1.77 (95% CI 1.72–1.82), respectively.

The highest cause specific hazard ratios in males were for homicide, 4.40 (95% CI 3.19–6.07), respiratory diseases, 4.01 (95% CI 3.61–4.44), infectious diseases, 3.55 (95% CI 3.15–3.19) and diabetes 3.41 (95% CI 3.06–3.79) and in females for diabetes, 4.41 (95% CI 3.76–5.16), infectious diseases, 4.16 (95% CI 3.52–4.91), respiratory diseases, 4.13 (95% CI 3.55–4.81), and heart disease, 2.96 (95% CI 2.66–3.29).

Education-adjusted risk of all-cause mortality for Arab males was 1.07 (1.05–1.09) times that of Jews and Others and non-significant in females. High mortality risk was found for Arab males and females compared to Jews and Others for homicide, diabetes, heart and cerebrovascular disease and for respiratory disease in males. Lower risk was found for suicide and infectious diseases in both sexes and

cancer in females.

Conclusion

We found significant effect of educational level on all-cause and cause specific mortality, particularly respiratory diseases, infectious diseases, diabetes and homicide. Our results highlight the importance of increasing the educational level of all groups in the population and of encouraging healthy behavior in the lower educated.