bluuebunny/crossref_metadata_2025 huggingface dataset:
The National Hurricane Center Tropical Cyclone Model Guidance Suite
Authors: DeMaria Mark , Franklin James L. , Zelinsky Rachel , Zelinsky David A. , Onderlinde Matthew J. , Knaff John A. , Stevenson Stephanie N. , Kaplan John , Musgrave Kate D. , Chirokova Galina , Sampson Charles R.
Published: August 2022

The National Hurricane Center (NHC) uses a variety of guidance models for its operational tropical cyclone track, intensity, and wind structure forecasts, and as baselines for the evaluation of forecast skill. A set of the simpler models, collectively known as the NHC guidance suite, is maintained by NHC. The models comprising the guidance suite are briefly described and evaluated, with details provided for those that have not been documented previously. Decay-SHIFOR is a modified version of the Statistical Hurricane Intensity Forecast (SHIFOR) model that includes decay over land; this modification improves the SHIFOR forecasts through about 96 h. T-CLIPER, a climatology and persistence model that predicts track and intensity using a trajectory approach, has error characteristics similar to those of CLIPER and D-SHIFOR but can be run to any forecast length. The Trajectory and Beta model (TAB), another trajectory track model, applies a gridpoint spatial filter to smooth winds from the National Centers for Environmental Prediction (NCEP) Global Forecast System (GFS) model. TAB model errors were 10%–15% lower than those of the Beta and Advection model (BAM), the model it replaced in 2017. Optimizing TAB’s vertical weights shows that the lower troposphere’s environmental flow provides a better match to observed tropical cyclone motion than does the upper troposphere’s, and that the optimal steering layer is shallower for higher-latitude and weaker tropical cyclones. The advantages and disadvantages of the D-SHIFOR, T-CLIPER, and TAB models relative to their earlier counterparts are discussed.

Significance Statement

This paper provides a comprehensive summary and evaluation of a set of simpler forecast models used as guidance for NHC’s operational tropical cyclone forecasts, and as baselines for the evaluation of forecast skill; these include newer techniques that extend forecasts to 7 days and beyond.
Gas-Containing Biliary Calculi: Case Series and a Systematic Review
Authors: Huerta Sergio , Kakati Rasha , Lanier Heather
Published: August 2022

Background

Cholelithiasis is a common gallbladder finding leading to cholecystitis in 7% of cases. Sonographic imaging or computed tomography scans are commonly employed for the diagnosis of benign gallbladder disease. Air within the gallbladder might carry various diagnoses. As opposed to pathologic air in the gallbladder seen in emphysematous cholecystitis, gas-containing gallstones are no more pathological than the exclusive presence of gallstones. In the present report, we review the incidence, physiology, typical characteristics, and clinical significance of gas-containing gallstones within the gallbladder.

Methods

We performed an institutional review of all patients with benign gallbladder disease over the past 16 years (2005 to 2021) to identify patients with gas-containing gallstones in the gallbladder. We performed a review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) to identify all reported cases of patients with gas-containing biliary calculi within the gallbladder.

Results

Our institutional review identified 5 patients with gas-containing biliary calculi in 1252 consecutive cholecystectomies; 4 of which had cholecystitis, while 1 was an incidental finding. Our review of the literature identified 30 manuscripts documenting 54 unique patients with gas-containing biliary calculi. None of these patients had consequential pathology related to gas in the stones other than that caused by the gallstones (ie, biliary colic and cholecystitis).

Conclusions

Gas-containing biliary calculi are uncommon. How gas finds itself within gallstones within the gallbladder is not entirely clear. Gas-containing gallstones should not be interpreted as free gas within the gallbladder or within an abscess.
Exposing the many biases in machine learning
Authors: Richardson Sharon
Published: August 2022

In recent years, there have been numerous articles highlighting issues with bias in machine learning algorithms underpinning the use of AI in decision making. Specifically, algorithms trained on historical real-world observations. However, less is written about the many ways bias can be introduced into the machine learning process. This article outlines 12 different types of bias that can occur during the data science process, from capture through curation to analysis and application.
Artificial Intelligence as a Service, Economic Growth, and Well-Being
Authors: Makridis Christos A. , Mishra Saurabh
Published: August 2022

The share of artificial intelligence (AI) jobs in total job postings has increased from 0.20% to nearly 1% between 2010 and 2019, but there is significant heterogeneity across cities in the United States (US). Using new data on AI job postings across 343 US cities, combined with data on subjective well-being and economic activity, we uncover the central role that service-based cities play to translate the benefits of AI job growth to subjective well-being. We find that cities with higher growth in AI job postings witnessed higher economic growth. The relationship between AI job growth and economic growth is driven by cities that had a higher concentration of modern (or professional) services. AI job growth also leads to an increase in the state of well-being. The transmission channel of AI job growth to increased subjective well-being is explained by the positive relationship between AI jobs and economic growth. These results are consistent with models of structural transformation where technological change leads to improvements in well-being through improvements in economic activity. Our results suggest that AI-driven economic growth, while still in the early days, could also raise overall well-being and social welfare, especially when the pre-existing industrial structure had a higher concentration of modern (or professional) services.
Artificial neural networks approach for prediction of axial loading capacity of circular normal strength concrete columns confined by both transverse steel reinforcement and carbon fiber reinforced polymer wraps
Authors: Berradia Mohammed , Alashker Yasser , Raza Ali , El Ouni Mohamed Hechmi
Published: August 2022

A few empirical models for the axial loading capacity (ALC) of circular normal strength concrete (NSC) columns wrapped by carbon fiber reinforced polymer (CFRP) sheets and interior transverse steel reinforcement (TSR) (CSC columns) are available in the literature. The deficiency of those models is that they were proposed based on a small number of tests by considering limited parameters of CSC columns. Therefore, the main aim of the current investigation is to propose the improved empirical models for the ALC of CSC columns by including the interaction mechanism between TSR and FRP confining behavior. To secure this aim, a general regression analysis technique and artificial neural networks (NNs) on the experimental outcomes of 76 CSC columns collected from the previous investigations were employed. The proposed NN model was adjusted for the different number of hidden layers and neurons to achieve an optimized model. The suggested NN and empirical models portrayed a close agreement with the testing database with R2 = 0.998 and R2 = 0.892, respectively. The NN model reported a higher accuracy than the theoretical model. The comparative investigation solidly authenticated the superiority and accuracy of the anticipated strength models for CSC columns.
Using a multidisciplinary, multi-method and collaborative research design to investigate the health communication power of the early childhood sector
Authors: Degotardi Sheila , Waniganayake Manjula , Bull Rebecca , Wong Sandie , Dahm Maria R , Hadley Fay , Harrison Linda , Sadow Lauren , Amin Janaki , Donovan Michael , Tran Dung , Zurynski Yvonne
Published: August 2022

This paper details the research design of a multidisciplinary, multi-method, collaborative research project investigating health communication from the experiences of the early childhood education (ECE) sector during the COVID-19 pandemic. With the rapidly evolving pandemic, the ECE sector was instantly tasked with expanding their required health practices to prevent the spread of infection. It was evident that the sector needed a system to communicate health advice in a timely, consistent and effective manner. Founded on a partnership model based on ‘knowledge brokering’ theory, this project demonstrates the value of a multidisciplinary research team collaborating with stakeholder organisations to investigate how COVID-19 health information traversed through complexities of organisational layers and diverse communities of families and staff. Detailing our data collection and analysis protocols, we conclude by outlining how our innovative research design is generating actionable and impactful recommendations for both the ECE and health sectors.
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages
Authors: Feurstein Simone , Trottier Amy M. , Estrada-Merly Noel , Pozsgai Matthew , McNeely Kelsey , Drazer Michael W. , Ruhle Brian , Sadera Katharine , Koppayi Ashwin L. , Scott Bart L. , Oran Betul , Nishihori Taiga , Agrawal Vaibhav , Saad Ayman , Lindsley R. Coleman , Nakamura Ryotaro , Kim Soyoung , Hu Zhenhuan , Sobecks Ronald , Spellman Stephen , Saber Wael , Godley Lucy A.
Published: August 2022

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20%. However, there are no comprehensive studies assessing the frequency of such variants across the age spectrum. We performed augmented whole-exome sequencing of peripheral blood samples from 404 patients with MDS and their related donors before allogeneic hematopoietic stem cell transplantation. Single-nucleotide and copy number variants in 233 genes were analyzed and interpreted. Germ line status was established by the presence of a variant in the patient and related donor or for those seen previously only as germ line alleles. We identified P/LP germ line variants in 28 of 404 patients with MDS (7%), present within all age deciles. Patients with P/LP variants were more likely to develop higher-grade MDS than those without (43% vs 25%; P = .04). There was no statistically significant difference in outcome parameters between patients with and without a germ line variant, but the analysis was underpowered. P/LP variants in bone marrow failure syndrome genes were found in 5 patients aged less than 40 years, whereas variants in DDX41 (n = 4), telomere biology disorder genes (n = 2), and general tumor predisposition genes (n = 17) were found in patients aged more than 40 years. If presumed germ line variants were included, the yield of P/LP variants would increase to 11%, and by adding suspicious variants of unknown significance, it would rise further to 12%. The high frequency of P/LP germ line variants in our study supports comprehensive germ line genetic testing for all patients with MDS regardless of their age at diagnosis.
Progression and survival of MBL: a screening study of 10 139 individuals
Authors: Slager Susan L. , Parikh Sameer A. , Achenbach Sara J. , Norman Aaron D. , Rabe Kari G. , Boddicker Nicholas J. , Olson Janet E. , Kleinstern Geffen , Lesnick Connie E. , Call Timothy G. , Cerhan James R. , Vachon Celine M. , Kay Neil E. , Braggio Esteban , Hanson Curtis A. , Shanafelt Tait D.
Published: August 2022

Monoclonal B-cell lymphocytosis (MBL) is a common hematological premalignant condition that is understudied in screening cohorts. MBL can be classified into low-count (LC) and high-count (HC) types based on the size of the B-cell clone. Using the Mayo Clinic Biobank, we screened for MBL and evaluated its association with future hematologic malignancy and overall survival (OS). We had a two-stage study design including discovery and validation cohorts. We screened for MBL using an eight-color flow-cytometry assay. Medical records were abstracted for hematological cancers and death. We used Cox regression to evaluate associations and estimate hazard ratios and 95% confidence intervals (CIs), adjusting for age and sex. We identified 1712 (17%) individuals with MBL (95% LC-MBL), and the median follow-up time for OS was 34.4 months with 621 individuals who died. We did not observe an association with OS among individuals with LC-MBL (P = .78) but did among HC-MBL (hazard ratio, 1.8; 95% CI, 1.1-3.1; P = .03). Among the discovery cohort with a median of 10.0 years follow-up, 31 individuals developed hematological cancers with two-thirds being lymphoid malignancies. MBL was associated with 3.6-fold risk of hematological cancer compared to controls (95% CI, 1.7-7.7; P < .001) and 7.7-fold increased risk for lymphoid malignancies (95% CI:3.1-19.2; P < .001). LC-MBL was associated with 4.3-fold risk of lymphoid malignancies (95% CI, 1.4-12.7; P = .009); HC-MBL had a 74-fold increased risk (95% CI, 22-246; P < .001). In this large screening cohort, we observed similar survival among individuals with and without LC-MBL, yet individuals with LC-MBL have a fourfold increased risk of lymphoid malignancies. Accumulating evidence indicates that there are clinical consequences to LC-MBL, a condition that affects 8 to 10 million adults in the United States.
Multiple datasets to explore the molecular mechanism of sepsis
Authors: Lin Shuang , Luo Bin , Ma Junqi
Published: August 2022

Background

This study aimed to identify potential biomarkers, by means of bioinformatics, affecting the occurrence and development of septic shock.

Methods

Download GSE131761 septic shock data set from NCBI geo database, including 33 control samples and 81 septic shock samples. GSE131761 and sequencing data were used to identify and analyze differentially expressed genes in septic shock patients and normal subjects. In addition, with sequencing data as training set and GSE131761 as validation set, a diagnostic model was established by lasso regression to identify key genes. ROC curve verified the stability of the model. Finally, immune infiltration analysis, enrichment analysis, transcriptional regulation analysis and correlation analysis of key genes were carried out to understand the potential molecular mechanism of key genes affecting septic shock.

Results

A total of 292 differential genes were screened out from the self-test data, 294 differential genes were screened out by GSE131761, Lasso regression was performed on the intersection genes of the two, a diagnostic model was constructed, and 5 genes were identified as biomarkers of septic shock. These 5 genes were SIGLEC10, VSTM1, GYPB, OPTN, and GIMAP7. The five key genes were strongly correlated with immune cells, and the ROC results showed that the five genes had good predictive performance on the occurrence and development of diseases. In addition, the key genes were strongly correlated with immune regulatory genes.

Conclusion

In this study, a series of algorithms were used to identify five key genes that are associated with septic shock, which may become potential candidate targets for septic shock diagnosis and treatment.

Trial registration

Approval number:2019XE0149-1.
SUPPRESSOR OF PHYTOCHROME B-4 #3 reduces the expression of PIF-activated genes and increases expression of growth repressors to regulate hypocotyl elongation in short days
Authors: Jacques Caitlin N. , Favero David S. , Kawamura Ayako , Suzuki Takamasa , Sugimoto Keiko , Neff Michael M.
Published: August 2022

SUPPRESSOR OF PHYTOCHROME B-4 #3 (SOB3) is a member of the AT-HOOK MOTIF CONTAINING NUCLEAR LOCALIZED (AHL) family of transcription factors that are involved in light-mediated growth inArabidopsis thaliana, affecting processes such as hypocotyl elongation. The majority of the research on the AHLs has been conducted in continuous light. However, there are unique molecular events that promote growth in short days (SD) compared to constant light conditions. Therefore, we investigated how AHLs affect hypocotyl elongation in SD. Firstly, we observed that AHLs inhibit hypocotyl growth in SD, similar to their effect in constant light. Next, we identified AHL-regulated genes in SD-grown seedlings by performing RNA-seq in twosob3mutants at different time points. Our transcriptomic data indicate thatPHYTOCHROME INTERACTING FACTORS(PIFs)4,5,7, and8along with PIF-target genes are repressed by SOB3 and/or other AHLs. We also identified PIF target genes that are repressed and have not been previously described as AHL-regulated, includingPRE1, PIL1, HFR1,CDF5,andXTR7. Interestingly, our RNA-seq data also suggest that AHLs activate the expression of growth repressors to control hypocotyl elongation, such asHY5andIAA17. Notably, many growth-regulating and other genes identified from the RNA-seq experiment were differentially regulated between these twosob3mutants at the time points tested. Surprisingly, our ChIP-seq data suggest that SOB3 mostly binds to similar genes throughout the day. Collectively, these data suggest that AHLs affect gene expression in a time point-specific manner irrespective of changes in binding to DNA throughout SD.
The impact of specific fracture characteristics of low-energy fractures of the pelvis on mortality
Authors: Ramser Michaela , Vach Werner , Strub Nathalie , Cadosch Dieter , Saxer Franziska , Eckardt Henrik
Published: August 2022

Background

Pelvic fractures in older patients are associated with relevant morbidity and mortality. Both might be determined by fracture morphology and/or patient characteristics. The aim of this project is to investigate the prognostic value of specific fracture characteristics with respect to overall survival and to compare it with an established classification system.

Methods

Retrospective analysis of patients ≥ 60 years, treated conservatively for a CT-scan verified, low-energy pelvic ring fracture between August 2006 and December 2018. Survival data was available from patients’ charts and cantonal or national registries.

The prognostic value of fracture characteristic describing the anterior and posterior involvement of the pelvic ring was investigated. This analysis was repeated after patients were stratified into a high-risk vs a low-risk group according to patient characteristic (age, gender, comorbidities, mobility, living situation). This allowed to assess the impact of the different fracture morphologies on mortality in fit vs. frail senior patients separately.

Results

Overall, 428 patients (83.4% female) with a mean age of 83.7 years were included. Two thirds of patients were still living in their home and mobile without walking aid at baseline. In-hospital mortality was 0.7%, overall, one-year mortality 16.9%. An independent and significant association of age, gender and comorbidities to overall survival was found. Further, the occurrence of a horizontal sacral fracture as well as a ventral comminution or dislocation was associated with an increased mortality. The effect of a horizontal sacral fracture was more accentuated in low-risk patients while the ventral fracture components showed a larger effect on survival in high-risk patients.

Conclusion

Specific fracture characteristics may indicate a higher risk of mortality in conservatively treated patients with a low-energy pelvic ring fracture. Hence, they should be taken into account in future treatment algorithms and decisions on patient management.
How different are objective operationalizations of walkability for older adults compared to the general population? A systematic review
Authors: Akinci Zeynep S. , Delclòs-Alió Xavier , Vich Guillem , Salvo Deborah , Ibarluzea Jesús , Miralles-Guasch Carme
Published: August 2022

Background

Walking is an essential activity for everyone and for older adults in particular, given that it is the most accessible form of physical activity and one of the healthiest transportation modes. Understanding how walkability (the potential of the environment to enable and/or encourage walking) has been objectively measured and analyzed for older adults is critical to create more inclusive, healthy, and sustainable environments and to promote healthy aging. Despite the numerous reviews on physical activity among older adults and its relationship with the built environment, the literature still lacks comparison reviews focusing specifically on objective operationalizations of walkability for older adults vs. the general population.

Methods

We conducted a systematic review of 146 empirical studies that measured walkability objectively in relation to walking-related outcomes. We compared studies focused on older adults (n = 24) and the general population (n = 122). Content analysis included the characteristics of the study design, walkability measures, spatial extent, and associations found between walkability and walking-related outcomes.

Results

In both groups of publications, the majority of studies were conducted in the US, Canada, and Europe, and largely in high-income countries. They were mostly published in health-related journals and used cross-sectional designs, operationalized walkability by using indexes, employed self-reported measures for walking-related outcomes, and found positive associations between walkability and walking outcomes. However, we observed some differences among studies focusing on older adults. Compared to studies focusing on the general population, a larger proportion of studies on older adults was conducted in the Middle East and Asia, and they used longitudinal designs, mixed methods to measure walking-related outcomes, variables related with land-use characteristics, safety from traffic and crime, and greenery, and a larger proportion found positive, as well as no associations between walkability and walking-related outcomes.

Conclusion

Although there is a promising increase in interest in older adults-focused walkability studies in the last decade, there is still a need for more studies focusing on different settings, using wider spatial extents, longitudinal designs, objective or mixed methods to collect outcome data, and specific variables and/or specially created indexes for older adults and for settings.
Factors associated with community commitment among older adults: a stratified analysis of community group leaders and members
Authors: Taguchi Hina , Tadaka Etsuko , Iwata Yuka , Arimoto Azusa
Published: August 2022

Background

Community commitment through group activities in the community is associated with improved health outcomes in older adults and has a ripple effect on community development. However, factors associated with community commitment through group activities in the community have not been examined. The purpose of this study was to examine individual factors and group-related factors in association with community commitment among older adult leaders and members of community groups in Japan.

Methods

We mailed self-administered questionnaires to all older adults participating in a community group (N = 1,898) in a ward of Yokohama city, the largest designated city in Japan. Variables included demographic characteristics, community commitment (Community Commitment Scale), individual factors, and group-related factors. We used logistic regression analysis to assess the association among study variables.

Results

A total of 1,154 people completed the questionnaire. The valid response rate was 48.8%. Respondents’ mean age was 78.3 years (standard deviation [SD] = 6.1, range 65–100 years), 79.6% were women, 55.9% were married, and 10.0% were employed. Factors associated with community commitment among group leaders were scores for self-efficacy in the health promotion scale (SF-15; mean ± SD: 48.5 ± 7.1), 5-item World Health Organization Well-Being Index (mean ± SD: 17.9 ± 4.3), and Lubben Social Network Scale, Japanese version (mean ± SD: 19.5 ± 6.9), as well as a perception of deriving pleasure from group participation (mean ± SD: 91.2 ± 9.4). Factors associated with community commitment among group members were economic status (Sufficient; n [%]: 749 [85.9]), frequency of going out (mean ± SD: 5.1 ± 1.8), years of group participation (mean ± SD: 6.2 ± 5.0), and perceptions of their role in the group (Yes; n [%]: 254 [30.4]) as well as the above factors for leaders. A supplementary qualitative analysis of participants’ free-text responses extracted seven categories: community support, resource mobilization, partnership action, asset management, participatory decision-making, linkages and networking, and community dissemination, related to perception of a role in the group.

Conclusion

Our results emphasize the importance of considering the different associations of community commitment through group activities in the community between group leaders and members, including the role of older adults in community groups, and suggest different approaches for group leaders and members.
Screening and assessment for post-acute COVID-19 syndrome (PACS), guidance by personal pilots and support with individual digital trainings within intersectoral care: a study protocol of a randomized controlled trial
Authors: Dahmen Alina , Keller Franziska M. , Derksen Christina , Rinn Robin , Becker Petra , Lippke Sonia
Published: August 2022

Background

Because the clinical patterns and symptoms that persist after a COVID-19 infection are diverse, a diagnosis of post-acute COVID-19 syndrome (PACS) is difficult to implement. The current research project therefore aims to evaluate the feasibility and the practicability of a comprehensive, interdisciplinary, and cross-sectoral treatment program consisting of a low-threshold online screening and holistic assessment for PACS. Furthermore, it aims to evaluate digital interventions and the use of so-called personal guides that may help to facilitate the recovery of PACS.

Methods

This German study consists of a low-threshold online screening for PACS where positively screened participants will be supported throughout by personal pilots. The personal pilots are aimed at empowering patients and helping them to navigate through the study and different treatment options. Patients will then be randomly assigned either to an intervention group (IG) or an active control group (ACG). The IG will receive a comprehensive assessment of physiological and psychological functioning to inform future treatment. The ACG does not receive the assessment but both groups will receive a treatment consisting of an individual digital treatment program (digital intervention platform and an intervention via a chatbot). This digital intervention is based on the needs identified during the assessment for participants in the IG. Compared to that, the ACG will receive a more common digital treatment program aiming to reduce PACS symptoms. Importantly, a third comparison group (CompG) will be recruited that does not receive any treatment. A propensity score matching will take place, ensuring comparability between the participants. Primary endpoints of the study are symptom reduction and return to work. Secondary outcomes comprise, for example, social participation and activities in daily life. Furthermore, the feasibility and applicability of the online screening tool, the holistic assessment, digital trainings, and personal pilots will be evaluated.

Discussion

This is one of the first large-scale studies to improve the diagnosis and the care of patients with PACS by means of empowerment. It is to be evaluated whether the methods utilized can be used for the German and international population.

Trial registrationClinicalTrials.gov Identifier: NCT05238415; date of registration: February 14, 2022
Insider knowledge as a double-edged sword: an integrative review of midwives’ personal childbearing experiences
Authors: Coulton Stoliar S. , Dahlen H.G. , Sheehan A.
Published: August 2022

Background

The majority of maternity care is provided by female midwives who have either become mothers or are of childbearing age, but there is limited research exploring midwives’ own personal childbearing experiences. This integrative review aims to explore the published literature and research on midwives’ own experiences of pregnancy and childbirth.

Method

An integrative review of the literature was conducted after relevant articles were identified through a search of: five electronic databases (Cumulative Index of Nursing and Allied Health Literature (CINAHL), Medline, PubMed, Scopus, and Google Scholar), cited reference lists, and networking with peers. Similar and contrasting patterns and relations within the literature were identified and grouped into themes and subthemes.

Results

Twenty articles were included in the review and four overarching themes were identified. Insider knowledge plays a role in decision making encompassed the way midwives used their knowledge to choose; a preferred mode of birth, maternity care provider, model of care, and place of birth. Navigating the childbirth journey demonstrated how some midwives were able to use their insider knowledge to achieve agency, while others had difficulty achieving agency. This theme also revealed the ‘midwife brain’ that midwives need to manage during their childbearing journey. The theme impact of care on the birth experience described how the type of care the midwives received from maternity care providers affected their overall birth experience. The fourth theme from midwife to mother explains their preparedness for childbirth and their transition to motherhood.

Conclusion

For childbearing midwives, there is a potential conflict between their position as knowledgeable experts in maternity care, and their experience as mothers. Whilst they can use their insider knowledge to their advantage, they also experience heightened fear and anxiety through their pregnancy. It is important for maternity care providers to acknowledge and support them and provide balanced and tailored care that acknowledges the woman within the professional midwife and the professional midwife within the woman.
Alveolar soft part sarcoma: progress toward improvement in survival? A population-based study
Authors: Fujiwara Tomohiro , Nakata Eiji , Kunisada Toshiyuki , Ozaki Toshifumi , Kawai Akira
Published: August 2022

Background

Alveolar soft part sarcoma (ASPS) is a rare histological subtype of soft-tissue sarcoma, which remains refractory to conventional cytotoxic chemotherapy. We aimed to characterize ASPS and investigate whether the oncological outcome has improved over the past decade.

Methods

One hundred and twenty patients with newly diagnosed ASPS from 2006 to 2017, identified from the Bone and Soft-Tissue Tumor Registry in Japan, were analyzed retrospectively.

Results

The study cohort comprised 34 (28%) patients with localized ASPS and 86 (72%) with metastatic disease at presentation. The 5-year disease-specific survival (DSS) was 68% for all patients and 86% and 62% for localized and metastatic disease, respectively (p = 0.019). Metastasis at presentation was the only adverse prognostic factor for DSS (hazard ratio [HR]: 7.65; p = 0.048). Patients who were > 25 years (80%; p = 0.023), had deep-seated tumors (75%; p = 0.002), and tumors > 5 cm (5–10 cm, 81%; > 10 cm, 81%; p < 0.001) were more likely to have metastases at presentation. In patients with localized ASPS, adjuvant chemotherapy or radiotherapy did not affect survival, and 13 patients (45%) developed distant metastases in the lung (n = 12, 92%) and brain (n = 2, 15%). In patients with metastatic ASPS (lung, n = 85 [99%]; bone, n = 12 [14%]; and brain n = 9 [11%]), surgery for the primary or metastatic site did not affect survival. Prolonged survival was seen in patients who received pazopanib treatment (p = 0.045), but not in those who received doxorubicin-based cytotoxic chemotherapy. Overall, improved DSS for metastatic ASPS has been observed since 2012 (5-year DSS, from 58 to 65%) when pazopanib was approved for advanced diseases, although without a statistically significant difference (p = 0.117).

Conclusion

The national study confirmed a unique feature of ASPS with frequent metastasis to the lung and brain but an indolent clinical course. An overall trend toward prolonged survival after the introduction of targeted therapy encourages continuous efforts to develop novel therapeutic options for this therapeutically resistant soft-tissue sarcoma.
Comparing spatial patterns of 11 common cancers in Mainland China
Authors: Zhang Lin , Wan Xia , Shi Runhe , Gong Peng , Si Yali
Published: August 2022

Background

A stronger spatial clustering of cancer burden indicates stronger environmental and human behavioral effects. However, which common cancers in China have stronger spatial clustering and knowledge gaps regarding the environmental and human behavioral effects have yet to be investigated. This study aimed to compare the spatial clustering degree and hotspot patterns of 11 common cancers in mainland China and discuss the potential environmental and behavioral risks underlying the patterns.

Methods

Cancer incidence data recorded at 339 registries in 2014 was obtained from the “China Cancer Registry Annual Report 2017”. We calculated the spatial clustering degree of the common cancers using the global Moran’s Index and identified the hotspot patterns using the hotspot analysis.

Results

We found that esophagus, stomach and liver cancer have a significantly higher spatial clustering degree ($$p<0.05$$

p
<
0.05

) than others. When by sex, female esophagus, male stomach, male esophagus, male liver and female lung cancer had significantly higher spatial clustering degree ($$p<0.001$$

p
<
0.001

). The spatial clustering degree of male liver was significantly higher than that of female liver cancer ($$p<0.001$$

p
<
0.001

), whereas the spatial clustering degree of female lung was significantly higher than that of male lung cancer ($$p<0.001$$

p
<
0.001

). The high-risk areas of esophagus and stomach cancer were mainly in North China, Huai River Basin, Yangtze River Delta and Shaanxi Province. The hotspots for liver and male liver cancer were mainly in Southeast China and south Hunan. Hotspots of female lung cancer were mainly located in the Pearl River Delta, Shandong, North and Northeast China. The Yangtze River Delta and the Pearl River Delta were high-risk areas for multiple cancers.

Conclusions

The top highly clustered cancer types in mainland China included esophagus, stomach and liver cancer and, by sex, female esophagus, male stomach, male esophagus, male liver and female lung cancer. Among them, knowledge of their spatial patterns and environmental and behavioral risk factors is generally limited. Potential factors such as unhealthy diets, water pollution and climate factors have been suggested, and further investigation and validation are urgently needed, particularly for male liver cancer. This study identified the knowledge gap in understanding the spatial pattern of cancer burdens in China and offered insights into targeted cancer monitoring and control.
To disclose or not: experiences of HIV infected pregnant women in disclosing their HIV status to their male sexual partners in Blantyre, Malawi
Authors: Mkandawire Annie Kalibwe , Jumbe Vincent , Nyondo-Mipando Alinane Linda
Published: August 2022

Background

HIV status disclosure is one of the pillars of success of the elimination of Mother to Child Transmission of HIV (eMTCT) program. However, there are challenges associated with it that limit full disclosure. Literature shows that for pregnant women in developing countries, who have been diagnosed with HIV, 16% to 86% disclose their status to their sexual partners. This study explored the experiences of newly diagnosed HIV-infected antenatal women in disclosing their HIV status to their male sexual partners in Blantyre, Malawi.

Methods

This was a qualitative explanatory multiple case study that was conducted from 2018 to 2019 using in-depth interviews and diaries as data collection tools. We recruited seven newly diagnosed HIV pregnant women who had not disclosed their status to their male sexual partners and were initiated on Option B + strategy of the eMTCT of HIV at Limbe Health Centre. The investigator had 3 contacts with each participant from which data was gathered except for one participant who got lost to follow-up. This study employed content analysis and used a within-case and across-case analysis.

Results

Women either use facilitated mutual disclosure process or disclosed directly to their male sexual partners. Women were motivated to disclose because they wanted an HIV-free baby, to know the partners' status, and to resolve the gap on how they got infected with HIV. The disclosure process faced challenges such as uncertainty about a partner’s reaction after disclosure, fear of relationship dissolution, and the soberness of the partner. Privacy was an important consideration during the process of disclosure. Following disclosure, male sexual partners either accepted the status immediately after disclosure or initially denied but later accepted.

Conclusion

This study has shown that newly diagnosed HIV pregnant women accessing eMTCT services have a plan of either to disclose or conceal their HIV status from their male sexual partner and this decision is affected by the nature of relationship that exist between them and their partner. Factors relating to the unborn baby, the relationship as well as to know partners status motivate women to either disclose or conceal.
Pheochromocytoma manifesting as cortical blindness secondary to PRES with associated TMA: a case report and literature review
Authors: Patel Sankalp P. , Jarbath Medjine , Saravis Lauren , Senada Peter , Lindner David H. , Grossman Robert A. , Francosadud Ricardo A.
Published: August 2022

Background

Pheochromocytomas are neoplasms originating from neuroectodermal chromaffin cells leading to excess catecholamine production. They are notorious for causing a triad of headaches, palpitations, and sweats. Though the Menard triad is one to be vigilant of, symptomatic presentation can vary immensely, hence the tumor earning the label “the great masquerader.”

Case presentation

We report a case of pheochromocytoma initially presenting with cortical blindness secondary to posterior reversible encephalopathy syndrome and thrombotic microangiopathy from malignant hypertension. Our patient was seen in our facility less than a week prior to this manifestation and discharged after an unremarkable coronary ischemia work-up. In the outpatient setting, she had been prescribed multiple anti-hypertensives with remarkably elevated blood pressure throughout her hospitalization history.

Conclusion

Pheochromocytoma presenting with malignant hypertension and hypertensive encephalopathy should be expected if left untreated; nonetheless, the precipitation of cortical blindness is rare in the literature. This case contributes an additional vignette to the growing literature revolving adrenal tumors and their symptomatic presentation along with complex management. It also serves to promote increased diagnostic suspicion among clinicians upon evaluating patients with refractory hypertension.
Toxicity and toxicokinetics of the ethanol extract of Zuojin formula
Authors: Wang Shuo , Zhang Tao , Liu Xiaoyan , Yang Zheng , Li Ludi , Shan Danping , Gao Yadong , Li Yingzi , Li Yanying , Zhang Youbo , Wang Qi
Published: August 2022

Background

Zuojin formula, a traditional Chinese medicine, comprises Coptis chinensis and Evodia rutaecarpa. In our previous study, the total alkaloid extract from Zuojin formula (TAZF) showed potent and improved efficacy. However, its safety and toxicokinetics remain unknown. The objective of this study was to evaluate the safety of repeated administrations of TAZF and investigate the internal exposure of the main components and its relationship with toxic symptoms.

Methods

Sprague–Dawley rats were orally administered TAZF at 0.4, 1.2 and 3.7 g/kg for 28 days, which was followed by a 14-day recovery period. The toxic effects were evaluated weekly by assessing body weight changes, food intake, blood biochemistry and haematological indices, organ weights and histological changes. A total of eight components were detected, including berberine, coptisine, epiberberine, palmatine, jatrorrhizine, columbamine, evodiamine, and rutaecarpine. The toxicokinetic profiles of the eight components were investigated after single and repeated administrations. Linear mixed effect models were applied to analyse the associations between internal exposure and toxic symptoms. Network pharmacology analysis was applied to explore the potential toxic mechanisms.

Results

Compared with the vehicle group, the rats in the low- and medium-dose groups did not show noticeable abnormal changes, while rats in the high-dose group exhibited inhibition of weight gain, a slight reduction in food consumption, abdominal bloating and atrophy of the splenic white pulp during drug administration. The concentration of berberine in plasma was the highest among all compounds. Epiberberine was found to be associated with the inhibition of weight gain. Network pharmacology analysis suggested that the alkaloids might cause abdominal bloating by affecting the proliferation of smooth muscle cells. The benchmark dose lower confidence limits (based on body weight inhibition) of TAZF were 1.27 g/kg (male) and 1.91 g/kg (female).

Conclusions

TAZF has no notable liver or kidney toxicity but carries risks of gastrointestinal and immune toxicity at high doses. Alkaloids from Coptis chinensis are the main plasma components related to the toxic effects of TAZF.
Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology
Authors: Yu Mingren , Xu Juan , Song Xiaohong , Du Jiayue
Published: August 2022

Background

Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study aimed to assess the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, as well as evaluate the value and affordability of introducing this new screening technology.

Methods

A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. We compared PKU screening using traditional immunofluorescence (IF) with the other 11 IEMs not screened and all 12 IEMs screened using MS/MS, and the programs detecting different numbers of IEMs chosen from the national recommended program were also compared. A sensitivity analysis and budget impact analysis (BIA) were performed.

Results

The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical threshold. The BIA indicated the implementation cost of the national program to be around 490 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs.

Conclusions

We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected are also presented. One is to choose the most cost-effective screening programs detecting highest number of IEMs to achieve a minimal ICER. The other considers the curability and affordability of the disease as the basis of healthcare decisions to screen suitable IEMs, achieving an ICER under the threshold and close to the minimum value.
Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development
Authors: Wei Jia , Wu Jiaqi , Ru Wei , Chen Guangjie , Gao Lei , Tang Daxing
Published: August 2022

Background

Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD.

Methods

Exome sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger sequencing.

Results

The 13-month-old younger sibling had a female appearance of the external genital with a clitoris that was assessed as Prader III and scored 2 in the external masculinization score evaluative test. The 16-year-old elder sibling had severe hypospadias. Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. The (c.937G > T) substitution mutation was derived from the mother.

Conclusions

Novel compound heterozygous mutations of DHH led to 46,XY DSD in two siblings. This study expands the phenotypic mutation spectra of DHH in patients with 46,XY DSD.
Potential mechanisms of quercetin in cancer prevention: focus on cellular and molecular targets
Authors: Asgharian Parina , Tazekand Abbas Pirpour , Hosseini Kamran , Forouhandeh Haleh , Ghasemnejad Tohid , Ranjbar Maryam , Hasan Muzaffar , Kumar Manoj , Beirami Sohrab Minaei , Tarhriz Vahideh , Soofiyani Saiedeh Razi , Kozhamzharova Latipa , Sharifi-Rad Javad , Calina Daniela , Cho William C.
Published: August 2022

Over the past few years, the cancer-related disease has had a high mortality rate and incidence worldwide, despite clinical advances in cancer treatment. The drugs used for cancer therapy, have high side effects in addition to the high cost. Subsequently, to reduce these side effects, many studies have suggested the use of natural bioactive compounds. Among these, which have recently attracted the attention of many researchers, quercetin has such properties. Quercetin, a plant flavonoid found in fresh fruits, vegetables and citrus fruits, has anti-cancer properties by inhibiting tumor proliferation, invasion, and tumor metastasis. Several studies have demonstrated the anti-cancer mechanism of quercetin, and these mechanisms are controlled through several signalling pathways within the cancer cell. Pathways involved in this process include apoptotic, p53, NF-κB, MAPK, JAK/STAT, PI3K/AKT, and Wnt/β-catenin pathways. In addition to regulating these pathways, quercetin controls the activity of oncogenic and tumor suppressor ncRNAs. Therefore, in this comprehensive review, we summarized the regulation of these signalling pathways by quercetin. The modulatory role of quercetin in the expression of various miRNAs has also been discussed. Understanding the basic anti-cancer mechanisms of these herbal compounds can help prevent and manage many types of cancer.