bluuebunny/crossref_metadata_2025 huggingface dataset:
A comparison of maxillary sinus diameters in Chinese and Yemeni patients with skeletal malocclusion
Authors: Albarakani Abduljabbar Yahya , Zheng Bo-wen , Hong Jialin , Al-Somairi Majedh Abdo Ali , Abdulqader Abass Ahmed , Liu Yi
Published: December 2022

Background

This study aimed to compare the maxillary sinus dimensions and surface area in accordance with skeletal malocclusion, gender and ethnicity factors in a sample of Chinese and Yemeni patients.

Methods

This cross-sectional study analysed 180 maxillary sinuses using 180 lateral cephalometric radiographs. The patients were subdivided into two ethnic groups: Chinese and Yemeni. Each ethnic group comprised 90 patients, and men and women were divided equally. Each ethnic group was classified into three skeletal classes using ANB and Wits appraisal (skeletal Classes I, II and III). Pearson’s correlation coefficient was also used to assess the relationship between maxillary sinus dimensions and cephalometric parameters.

Results

Men had larger maxillary sinuses than women; skeletal Class II had a higher length and surface area increase than other skeletal classes, although skeletal Classes I and II were almost equal in height. Except for the maxillary sinus length, none of these findings were statistically significant. The maxillary sinuses in Chinese are larger than those in Yemenis (P = 0.000). These variables were positively correlated with SNA, SNB and Co–A. The maxillary sinus length and Co–Gn were positively correlated. The NA–APO and NA–FH angles were also correlated with the maxillary sinus surface area. However, the gonial and GoGn–Sn angles negatively affected the maxillary sinus dimension and surface area.

Conclusions

Men had larger maxillary sinuses than women in both ethnic groups, and Chinese individuals had larger maxillary sinuses than Yemenis. Skeletal Class II malocclusion of both ethnicities had larger maxillary sinus dimensions. Furthermore, the maxillary sinus dimensions correlated with cephalometric parameters.
Biological isolation and characterization of Catharanthus roseus (L.) G. Don methanolic leaves extracts and their assessment for antimicrobial, cytotoxic, and apoptotic activities
Authors: Rajashekara Somashekara , Reena Dondapati , Mainavi Mullahalli Venkataramareddy , Sandhya Locheruvapalli Srinivasa , Baro Utpal
Published: December 2022

Background

Biological synthesis of natural products from plants has made us an inspiring methodology in the field of science and biotechnology.

Methods

The methanolic extracts of Catharanthus roseus (L.) G. Don plant leaves (CrPLE) were extracted and characterized by utilizing the phytochemicals estimation, Thin-layer chromatography (TLC), and High-Performance Liquid Chromatography (HPLC) analysis; and further evaluation for an understanding of the biomedical uses of CrPLE was done.

Results

The evaluation of the seven phytochemicals designates the presence of secondary metabolites in the CrPLE. The CrPLE (test samples) exhibited the Catechin and Caffeic acid contents of 0.0055 and 0.0149 mg/g respectively. The CrPLE revealed the highest antimicrobial activity and showed a mortal effect against the tested microorganisms. Cytotoxicity of the breast cancer cell lines was exposed that CrPLE as a respectable anticancer specialist and metabolically vigorous cells.

Conclusion

Consequently, the biological synthesized methanolic leaf extracts of the C. roseus plants would be appreciated and have incredible contributions to the field of medicinal applications.

Graphical Abstract
A continuing professional development imperative? Examining trends and characteristics of health professions education doctoral programs
Authors: Kulo Violet , Cestone Christina
Published: December 2022

Background

Despite the long-standing faculty development initiatives for improving teaching skills in the health professions, there is still a growing need for educators who are formally trained in educational theory and practice as health professions schools experience dramatic demand and growth. Graduate programs in health professions education (HPE) provide an avenue for health professions’ faculty continuing professional development to enhance their knowledge and skills for teaching and curriculum leadership roles. There has been a proliferation of certificate, master’s, and doctoral programs in HPE over the last two decades to respond to the growing need for well-prepared faculty educators and program leadership. The purpose of this study was to identify and describe current HPE doctoral programs in United States (U.S.) and Canada.

Methods

The study first examined doctoral programs in HPE identified in earlier studies. Next, we searched the literature and the web to identify new doctoral programs in the U.S. and Canada that had been established between 2014, when the prior study was conducted, and 2022. We then collated and described the characteristics of these programs, highlighting their similarities and differences.

Results

We identified a total of 20 doctoral programs, 17 in the U.S. and 3 in Canada. Of these, 12 programs in the U.S. and 1 program in Canada were established in the last 8 years. There are many similarities and some notable differences across programs with respect to degree title, admission requirements, duration, delivery format, curriculum, and graduation requirements. Most programs are delivered in a hybrid format and the average time for completion is 4 years.

Conclusions

The workforce shortage facing health professional schools presents an opportunity, or perhaps imperative, for continuing professional development in HPE through certificate, master’s, or doctoral programs. With the current exponential growth of new doctoral programs, there is a need to standardize the title, degree requirements, and further develop core competencies that guide the knowledge and skills HPE graduates are expected to have upon graduation.
Seroprevalence and associated risk factors of peste des petits ruminants among ovine and caprine in selected districts of Afar region, Ethiopia
Authors: Dubie Teshager , Dagnew Betelhem , Gelo Esrael , Negash Wossene , Hussein Fentaw , Woldehana Mulatu
Published: December 2022

Background

A Peste des petits ruminant is an acute, highly contagious and economically important transboundary viral disease of small ruminants. Despite the fact that food and agriculture organization and world organization for animal health plan to eradicate the disease by 2030, some studies indicated an increasing seropositivity of PPR infection in sheep and goats in Ethiopia. A cross-sectional study was employed to estimate the seroprevalence of PPR and to assess risk factors during the study period, February to April, 2020. Following purposive selection of the study districts, simple random sampling technique was employed to select individual animal during sample collection. A total of 384 serum samples were collected from apparently healthy sheep and goats. Competitive Enzyme Linked Immunosorbent Assay was used to detect the presence of antibodies against PPR at national veterinary institute. Descriptive statistics, Pearson’s chi-square (X2) and logistic regression analysis were used is this study.

Results

The overall animal level seroprevalence of PPR virus was found to be 60.15% (n = 231/384) and species level prevalence rate was found to be 38.18% (n = 42) in sheep and 68.98% (n = 189) in goats in the study areas. Among the associated risk factors considered; species, sex, age and herd sizes were significantly associated (P < 0.05) with the disease occurrence. Among the associated risk factors considered in this study, species, sex, age and herd size were found to be statistically associated with the seropositivity of PPR infection.

Conclusion

The present study finding revealed that a higher seroprevalence of PPR virus infection and this confirms peste des petits ruminant virus is circulating in Afar region. Further studies should be carried out on the entire region to determine PPR seroprevalence and to develop appropriate control and eradication strategies of PPR disease.
Time-varying parameters of glycemic control and glycation in relation to arterial stiffness in patients with type 1 diabetes
Authors: Helleputte Simon , Calders Patrick , Rodenbach Arthur , Marlier Joke , Verroken Charlotte , De Backer Tine , Lapauw Bruno
Published: December 2022

Background

A substantial proportion of type 1 diabetes (T1D) patients free from known cardiovascular disease (CVD) show premature arterial stiffening, with age, blood pressure, and HbA1c—as gold standard of glycemic control—as main predictors. However, the relationship of arterial stiffness with other time-varying parameters of glycemic control and glycation has been far less explored. This study investigated the relationship of arterial stiffness with several short- and long-term parameters of glycemic control and glycation in patients with T1D, such as advanced glycation end-products (AGEs) and continuous glucose monitoring (CGM)-derived parameters.

Methods

Cross-sectional study at a tertiary care centre including 54 patients with T1D free from known CVD. Arterial stiffness was assessed with carotid-femoral pulse wave velocity (cf-PWV). Current level and 10-year history of HbA1c were evaluated, and skin AGEs, urinary AGEs, and serum soluble AGE-receptor (sRAGE) concentrations. CGM for 7 days was used to determine time in range, time in hyper- and hypoglycemia, and glycemic variability.

Results

Cf-PWV was associated with current HbA1c (rs = + 0.28), mean 10-years HbA1c (rs = + 0.36), skin AGEs (rs = + 0.40) and the skin AGEs-to-sRAGE ratio (rs = + 0.40), but not with urinary AGE or serum sRAGE concentrations; and not with any of the CGM-parameters. Multiple linear regression for cf-PWV showed that the model with the best fit included age, T1D duration, 24-h mean arterial pressure and mean 10-years HbA1c (adjusted R2 = 0.645, p < 0.001).

Conclusions

Longer-term glycemic exposure as reflected by current and mean 10-years HbA1c is a key predictor of arterial stiffness in patients with T1D, while no relationship was found with any of the short-term CGM parameters. Our findings stress the importance of early and sustained good glycemic control to prevent premature CVD in patients with T1D and suggest that HbA1c should continue to be used in the risk assessment for diabetic complications. The role of skin glycation, as a biomarker for vascular aging, in the risk assessment for CVD is an interesting avenue for further research.
CD5L-associated gene analyses highlight the dysregulations, prognostic effects, immune associations, and drug-sensitivity predicative potentials of LCAT and CDC20 in hepatocellular carcinoma
Authors: Zhang Xiuzhi , Liu Xiaoli , Zhu Keke , Zhang Xue , Li Ningning , Sun Tao , Fan Shasha , Dai Liping , Zhang Jinzhong
Published: December 2022

Background

The dysregulation of CD5L has been reported in hepatocellular carcinoma (HCC). However, its functions in HCC were controversial. In this study, we aimed to identify CD5L-associated pathways and markers and explore their values in HCC diagnosis, prognosis and treatment.

Methods

HCC datasets with gene expression profiles and clinical data in TCGA and ICGC were downloaded. The immune/stroma cell infiltrations were estimated with xCell. CD5L-associated pathways and CD5L-associated genes (CD5L-AGs) were identified with gene expression comparisons and gene set enrichment analysis (GSEA). Cox regression, Kaplan–Meier survival analysis, and least absolute shrinkage and selection operator (LASSO) regression analysis were performed. The correlations of the key genes with immune/stroma infiltrations, immunoregulators, and anti-cancer drug sensitivities in HCC were investigated. At protein level, the key genes dysregulations, their correlations and prognostic values were validated in clinical proteomic tumor analysis consortium (CPTAC) database. Serum CD5L and LCAT activity in 50 HCC and 30 normal samples were evaluated and compared. The correlations of serum LCAT activity with alpha-fetoprotein (AFP), albumin (ALB) and high-density lipoprotein (HDL) in HCC were also investigated.

Results

Through systemic analyses, 14 CD5L-associated biological pathways, 256 CD5L-AGs and 28 CD5L-associated prognostic and diagnostic genes (CD5L-APDGs) were identified. A risk model consisting of LCAT and CDC20 was constructed for HCC overall survival (OS), which could discriminate HCC OS status effectively in both the training and the validation sets. CD5L, LCAT and CDC20 were shown to be significantly correlated with immune/stroma cell infiltrations, immunoregulators and 31 anti-cancer drug sensitivities in HCC. At protein level, the dysregulations of CD5L, LCAT and CDC20 were confirmed. LCAT and CDC20 were shown to be significantly correlated with proliferation marker MKI67. In serum, no significance of CD5L was shown. However, the lower activity of LCAT in HCC serum was obvious, as well as its significant positive correlations ALB and HDL concentrations.

Conclusions

CD5L, LCAT and CDC20 were dysregulated in HCC both at mRNA and protein levels. The LCAT-CDC20 signature might be new predicator for HCC OS. The associations of the three genes with HCC microenvironment and anti-cancer drug sensitivities would provide new clues for HCC immunotherapy and chemotherapy.
The metastatic capacity of high-grade serous ovarian cancer cells changes along disease progression: inhibition by mifepristone
Authors: Ritch Sabrina J. , Noman Abu Shadat M. , Goyeneche Alicia A. , Telleria Carlos M.
Published: December 2022

Background

Simplistic two-dimensional (2D) in vitro assays have long been the standard for studying the metastatic abilities of cancer cells. However, tri-dimensional (3D) organotypic models provide a more complex environment, closer to that seen in patients, and thereby provide a more accurate representation of their true capabilities. Our laboratory has previously shown that the antiprogestin and antiglucocorticoid mifepristone can reduce the growth, adhesion, migration, and invasion of various aggressive cancer cells assessed using 2D assays. In this study, we characterize the metastatic capabilities of high-grade serous ovarian cancer cells generated along disease progression, in both 2D and 3D assays, and the ability of cytostatic doses of mifepristone to inhibit them.

Methods

High-grade serous ovarian cancer cells collected from two separate patients at different stages of their disease were used throughout the study. The 2D wound healing and Boyden chamber assays were used to study migration, while a layer of extracellular matrix was added to the Boyden chamber to study invasion. A 3D organotypic model, composed of fibroblasts embedded in collagen I and topped with a monolayer of mesothelial cells was used to further study cancer cell adhesion and mesothelial displacement. All assays were studied in cells, which were originally harvested from two patients at different stages of disease progression, in the absence or presence of cytostatic doses of mifepristone.

Results

2D in vitro assays demonstrated that the migration and invasive rates of the cells isolated from both patients decreased along disease progression. Conversely, in both patients, cells representing late-stage disease demonstrated a higher adhesion capacity to the 3D organotypic model than those representing an early-stage disease. This adhesive behavior is associated with the in vivo tumor capacity of the cells. Regardless of these differences in adhesive, migratory, and invasive behavior among the experimental protocols used, cytostatic doses of mifepristone were able to inhibit the adhesion, migration, and invasion rates of all cells studied, regardless of their basal capabilities over simplistic or organotypic metastatic in vitro model systems. Finally, we demonstrate that when cells acquire the capacity to grow spontaneously as spheroids, they do attach to a 3D organotypic model system when pre-incubated with conditioned media. Of relevance, mifepristone was able to cause dissociation of these multicellular structures.

Conclusion

Differences in cellular behaviours were observed between 2 and 3D assays when studying the metastatic capabilities of high-grade serous ovarian cancer cells representing disease progression. Mifepristone inhibited these metastatic capabilities in all assays studied.
The relationship between stress and health-related quality of life and the mediating role of self-efficacy in Norwegian adolescents: a cross-sectional study
Authors: Grasaas Erik , Skarstein Siv , Mikkelsen Hilde Timenes , Småstuen Milada Cvancarova , Rohde Gudrun , Helseth Sølvi , Haraldstad Kristin
Published: December 2022

Background

During the transitional phase from childhood to adulthood, adolescents encounter many changes and challenges. Stress is associated with reduced health-related quality of life (HRQOL) in adolescents and, thus, impacts all aspects of their life. Adolescents’ thoughts and beliefs in their capacity may be essential with regard to their subjective perception of stress and coping with it. Insights into the complexity of stress and exploration of the possible underlying mechanisms in adolescence are needed. We sought to describe stress, HRQOL, and self-efficacy and explore the association between stress and HRQOL by testing for self-efficacy as a possible mediator in adolescents.

Methods

In total, 696 school-based adolescents aged 14–15 years participated in this study. Participants were recruited from 22 schools in the Eastern and Southern parts of Norway. All participants completed an electronic survey in their respective classrooms. The survey included demographic data, the Perceived Stress Questionnaire, the KIDSCREEN-27 questionnaire measuring HRQOL, and the General Perceived Self-Efficacy Scale. Statistical analyses were conducted using the PROCESS macro for SPSS Statistics software by Andrew Hayes model 4.

Results

Descriptive analyses revealed overall low levels of stress with a score of 0.29 (SD, 0.15). Nevertheless, stress was negatively associated with all HRQOL subscales: physical well-being (B =  − 25.60), psychological well-being (B =  − 38.43), autonomy and parents (B =  − 28.84), social support and peers (B =  − 21.05), and school environment (B =  − 30.28). Furthermore, these respective associations were all mediated by self-efficacy, which explained approximately one-fifth of the reduction in HRQOL. The highest degree of mediation and, thus, the largest indirect effect was estimated for the HRQOL subscale physical well-being (31.7%).

Conclusions

Our findings extend prior research on the mechanisms underlying the relationship between perceived stress and HRQOL in adolescents. They demonstrated that perceived stress explained most of the reduction in the HRQOL after adjusting for the effect of self-efficacy. Hence, stress itself appears to be an important target for future interventions to enhance HRQOL, rather than purely focusing on increasing self-efficacy to enhance the HRQOL in adolescents. Our findings highlight the importance of a better understanding of the underlying mechanisms to develop strategic and accurate interventions for adolescents.
The risk of depression and anxiety is not increased in individuals with juvenile idiopathic arthritis – results from the south-Swedish juvenile idiopathic arthritis cohort
Authors: Berthold Elisabet , Dahlberg Alma , Jöud Anna , Tydén Helena , Månsson Bengt , Kahn Fredrik , Kahn Robin
Published: December 2022

Background

Children with chronic diseases are reported to have increased risk of psychiatric comorbidity. Few studies have investigated this risk in juvenile idiopathic arthritis (JIA), with conflicting results. We performed a population-based, longitudinal cohort study of the risk of depression and anxiety in south-Swedish patients with juvenile arthritis.

Methods

The south-Swedish JIA cohort (n = 640), a population-based cohort with validated JIA diagnosis 1980 – 2010 and comparators, a reference group of 3200 individuals free from JIA, matched for sex, year of birth and residential region, was used. Data on comorbid diagnosis with depression or anxiety were obtained from the Skåne Healthcare Register, containing all healthcare contacts in the region, from 1998 to 2019. We used Cox proportional models for the calculation of hazard ratios.

Results

During the study period, 1998 to 2019, 93 (14.5%) of the individuals in the JIA group were diagnosed with depression, and 111 (17.3%) with anxiety. Corresponding numbers among the references was 474 (14.8%) with depression and 557 (17.4%) with anxiety. Hazard ratio for depression was 1.1 (95% CI 0.9 – 1.5) in females and 0.8 (95% CI 0.5 – 1.4) in males, and for anxiety 1.2 (95% CI 0.9 – 1.5) in females and 0.6 (95% CI 0.4 – 1.1) in males. There were no statistically significant hazard ratios when analyzing subgroups of JIA patients with long disease duration or treatment with disease-modifying antirheumatic drugs.

Conclusions

Individuals with JIA do not have any statistically increased risk of being diagnosed with depression or anxiety compared to matched references.
Naturalistic visualization of reaching movements using head-mounted displays improves movement quality compared to conventional computer screens and proves high usability
Authors: Wenk Nicolas , Buetler Karin A. , Penalver-Andres Joaquin , Müri René M. , Marchal-Crespo Laura
Published: December 2022

Background

The relearning of movements after brain injury can be optimized by providing intensive, meaningful, and motivating training using virtual reality (VR). However, most current solutions use two-dimensional (2D) screens, where patients interact via symbolic representations of their limbs (e.g., a cursor). These 2D screens lack depth cues, potentially deteriorating movement quality and increasing cognitive load. Head-mounted displays (HMDs) have great potential to provide naturalistic movement visualization by incorporating improved depth cues, reduce visuospatial transformations by rendering movements in the space where they are performed, and preserve eye-hand coordination by showing an avatar—with immersive VR (IVR)—or the user’s real body—with augmented reality (AR). However, elderly populations might not find these novel technologies usable, hampering potential motor and cognitive benefits.

Methods

We compared movement quality, cognitive load, motivation, and system usability in twenty elderly participants (>59 years old) while performing a dual motor-cognitive task with different visualization technologies: IVR HMD, AR HMD, and a 2D screen. We evaluated participants’ self-reported cognitive load, motivation, and usability using questionnaires. We also conducted a pilot study with five brain-injured patients comparing the visualization technologies while using an assistive device.

Results

Elderly participants performed straighter, shorter duration, and smoother movements when the task was visualized with the HMDs than screen. The IVR HMD led to shorter duration movements than AR. Movement onsets were shorter with IVR than AR, and shorter for both HMDs than the screen, potentially indicating facilitated reaction times due to reduced cognitive load. No differences were found in the questionnaires regarding cognitive load, motivation, or usability between technologies in elderly participants. Both HMDs proved high usability in our small sample of patients.

Conclusions

HMDs are a promising technology to be incorporated into neurorehabilitation, as their more naturalistic movement visualization improves movement quality compared to conventional screens. HMDs demonstrate high usability, without decreasing participants’ motivation, and might potentially lower cognitive load. Our preliminary clinical results suggest that brain-injured patients may especially benefit from more immersive technologies. However, larger patient samples are needed to draw stronger conclusions.**
Bridging the genomic data gap in Africa: implications for global disease burdens
Authors: Omotoso Olabode Ebenezer , Teibo John Oluwafemi , Atiba Festus Adebayo , Oladimeji Tolulope , Adebesin Ayomide Oluwadarasimi , Babalghith Ahmad O.
Published: December 2022

This paper highlights the gap in the use of genomic data of Africans for global research efforts for disease cures. Genomic data represents an important tool used in disease research for understanding how diseases affect several populations and how these differences can be harnessed for the development of effective cures especially vaccines that have an impact at the genetic level e.g., RNA vaccines.

This paper then provides a review of global genomic data status where three continents are reported to be the major contributor of genomic data to repositories used for disease research and the development of vaccines and medicines around the world.

We reviewed the most recently published information about genetic data inclusiveness of populations, explaining how genomic data of Africans is lacking in global research efforts that cater towards the eradication of pandemics via the development of vaccines and other cures. We also discuss the implication of this non-inclusiveness for global disease burdens and indicate where changes need to be made in the last part of the paper.

Lastly, the entire centers on some general policy recommendations to fully include African genomic data in such global genetic repositories. These recommendations can be implemented in African countries to improve genetic data collection, storage, and usage policies.
Patient-centered consultations for persons with musculoskeletal conditions
Authors: Belton Joletta , Birkinshaw Hollie , Pincus Tamar
Published: December 2022

Consultations between practitioners and patients are more than a hypothesis-chasing exploration, especially when uncertainty about etiology and prognosis are high. In this article we describe a single individual's account of their lived experience of pain and long journey of consultations. This personal account includes challenges as well as opportunities, and ultimately led to self-awareness, clarity, and living well with pain. We follow each section of this narrative with a short description of the emerging scientific evidence informing on specific aspects of the consultation. Using this novel structure, we portray a framework for understanding consultations for persistent musculoskeletal pain from a position of patient-centered research to inform practice.
IMPLANT: a new technique for transgene copy number estimation in plants using a single end-point PCR reaction
Authors: De Saeger Jonas , Park Jihae , Thoris Kai , De Bruyn Charlotte , Chung Hoo Sun , Inzé Dirk , Depuydt Stephen
Published: December 2022

Background

Copy number determination is one of the first steps in the characterization of transgenic plant lines. The classical approach to this, Southern blotting, is time-consuming, expensive and requires massive amounts of high-quality genomic DNA. Other PCR-based techniques are either inaccurate, laborious, or expensive.

Results

Here, we propose a new technique, IMPLANT (Insertion of competitive PCR calibrator for copy number estimation), a competitive PCR-based technique in which the competitor (based on an endogenous gene) is also incorporated in the T-DNA, which then gets integrated in the genome together with the gene of interest. As the number of integrated competitor molecules directly corresponds to the number of transgene copies, the transgene copy number can be determined by a single PCR reaction. We demonstrate that the results of this technique closely correspond with those obtained by segregation analysis in Arabidopsis and digital PCR In rice, indicating that it is a powerful alternative for other techniques for copy number determination.

Conclusions

We show that this technique is not only reliable, but is also faster, easier, and cheaper as compared with other techniques. Accurate results are obtained in both Arabidopsis and rice, but this technique can be easily extended to other organisms and as such can be widely adopted in the field of biotechnology.
Hybrid surgery for blunt aortic injury with rupture: a case report
Authors: Maruhashi Takaaki , Maruki Hideo , Mishima Toshiaki , Kitamura Tadashi , Kurihara Yutaro , Oi Marina , Kataoka Yuichi , Miyaji Kagami , Asari Yasushi
Published: December 2022

Background

Blunt thoracic aortic injury is one of the most lethal traumatic injuries. Ruptured cases often result in cardiac arrest before arrival at the hospital, and survival is rare.

Case presentation: A female patient in her 30 s was struck by an automobile while she was walking across an intersection. She was in a state of shock when emergency services arrived and was in cardiac arrest shortly after arriving at the hospital. A left anterolateral thoracotomy revealed a massive hemothorax secondary to thoracic aortic rupture. In addition, the patient had multiple traumas, including maxillary, pelvic, and lumbar burst fractures. We attempted to directly suture the aortic lesion; however, the increasing blood pressure caused the suture to break. We used a thoracic stent graft while ensuring permissive hypotension. Her postoperative prognosis was positive, and she was transferred to another hospital 85 days later.

Conclusions

We successfully performed a hybrid surgery combining thoracotomy and endovascular repair for this emergency case of blunt thoracic aortic injury with rupture.
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders
Authors: Jia Hongyan , Ma Qian , Liang Yi , Wang Dan , Chang Qinglin , Zhao Bo , Zhang Zongrui , Liang Jing , Song Jing , Wang Yidi , Zhang Ranran , Tu Zhanhan , Jiao Yonghong
Published: December 2022

Background

Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients.

Results

A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes.

Conclusions

This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.
The emerging role of epigenetic regulation in the progression of silicosis
Authors: Yin Haoyu , Xie Yujia , Gu Pei , Li Wei , Zhang Yingdie , Yao Yuxin , Chen Weihong , Ma Jixuan
Published: December 2022

Silicosis is one of the most severe occupational diseases worldwide and is characterized by silicon nodules and diffuse pulmonary fibrosis. However, specific treatments for silicosis are still lacking at present. Therefore, elucidating the pathogenesis of silicosis plays a significant guiding role for its treatment and prevention. The occurrence and development of silicosis are accompanied by many regulatory mechanisms, including epigenetic regulation. The main epigenetic regulatory mechanisms of silicosis include DNA methylation, non-coding RNA (ncRNA), and histone modifications. In recent years, the expression and regulation of genes related to silicosis have been explored at epigenetic level to reveal its pathogenesis further, and the identification of aberrant epigenetic markers provides new biomarkers for prediction and diagnosis of silicosis. Here, we summarize the studies on the role of epigenetic changes in the pathogenesis of silicosis to give some clues for finding specific therapeutic targets for silicosis.
AI in breast screening mammography: breast screening readers' perspectives
Authors: de Vries Clarisse Florence , Colosimo Samantha J. , Boyle Moragh , Lip Gerald , Anderson Lesley A. , Staff Roger T. ,   the iCAIRD Radiology Collaboration, Harrison D. , Black C. , Murray A. , Wilde K. , Blackwood J. D. , Butterly C. , Zurowski J. , Eilbeck J. , McSkimming C.
Published: December 2022

Objectives

This study surveyed the views of breast screening readers in the UK on how to incorporate Artificial Intelligence (AI) technology into breast screening mammography.

Methods

An online questionnaire was circulated to the UK breast screening readers. Questions included their degree of approval of four AI implementation scenarios: AI as triage, AI as a companion reader/reader aid, AI replacing one of the initial two readers, and AI replacing all readers. They were also asked to rank five AI representation options (discrete opinion; mammographic scoring; percentage score with 100% indicating malignancy; region of suspicion; heat map) and indicate which evidence they considered necessary to support the implementation of AI into their practice among six options offered.

Results

The survey had 87 nationally accredited respondents across the UK; 73 completed the survey in full. Respondents approved of AI replacing one of the initial two human readers and objected to AI replacing all human readers. Participants were divided on AI as triage and AI as a reader companion. A region of suspicion superimposed on the image was the preferred AI representation option. Most screen readers considered national guidelines (77%), studies using a nationally representative dataset (65%) and independent prospective studies (60%) as essential evidence. Participants’ free-text comments highlighted concerns and the need for additional validation.

Conclusions

Overall, screen readers supported the introduction of AI as a partial replacement of human readers and preferred a graphical indication of the suspected tumour area, with further evidence and national guidelines considered crucial prior to implementation.
Predictive performance of radiomic models based on features extracted from pretrained deep networks
Authors: Demircioğlu Aydin
Published: December 2022

Objectives

In radiomics, generic texture and morphological features are often used for modeling. Recently, features extracted from pretrained deep networks have been used as an alternative. However, extracting deep features involves several decisions, and it is unclear how these affect the resulting models. Therefore, in this study, we considered the influence of such choices on the predictive performance.

Methods

On ten publicly available radiomic datasets, models were trained using feature sets that differed in terms of the utilized network architecture, the layer of feature extraction, the used set of slices, the use of segmentation, and the aggregation method. The influence of these choices on the predictive performance was measured using a linear mixed model. In addition, models with generic features were trained and compared in terms of predictive performance and correlation.

Results

No single choice consistently led to the best-performing models. In the mixed model, the choice of architecture (AUC + 0.016; p < 0.001), the level of feature extraction (AUC + 0.016; p < 0.001), and using all slices (AUC + 0.023; p < 0.001) were highly significant; using the segmentation had a lower influence (AUC + 0.011; p = 0.023), while the aggregation method was insignificant (p = 0.774). Models based on deep features were not significantly better than those based on generic features (p > 0.05 on all datasets). Deep feature sets correlated moderately with each other (r = 0.4), in contrast to generic feature sets (r = 0.89).

Conclusions

Different choices have a significant effect on the predictive performance of the resulting models; however, for the highest performance, these choices should be optimized during cross-validation.
Predicting chemical structure using reinforcement learning with a stack-augmented conditional variational autoencoder
Authors: Kim Hwanhee , Ko Soohyun , Kim Byung Ju , Ryu Sung Jin , Ahn Jaegyoon
Published: December 2022

In this paper, a reinforcement learning model is proposed that can maximize the predicted binding affinity between a generated molecule and target proteins. The model used to generate molecules in the proposed model was the Stacked Conditional Variation AutoEncoder (Stack-CVAE), which acts as an agent in reinforcement learning so that the resulting chemical formulas have the desired chemical properties and show high binding affinity with specific target proteins. We generated 1000 chemical formulas using the chemical properties of sorafenib and the three target kinases of sorafenib. Then, we confirmed that Stack-CVAE generates more of the valid and unique chemical compounds that have the desired chemical properties and predicted binding affinity better than other generative models. More detailed analysis for 100 of the top scoring molecules show that they are novel ones not found in existing chemical databases. Moreover, they reveal significantly higher predicted binding affinity score for Raf kinases than for other kinases. Furthermore, they are highly druggable and synthesizable.
Male guanine-rich RNA sequence binding factor 1 knockout mice (Grsf1−/−) gain less body weight during adolescence and adulthood
Authors: Dumoulin Bernhard , Heydeck Dagmar , Jähn Desiree , Lassé Moritz , Sofi Sajad , Ufer Christoph , Kuhn Hartmut
Published: December 2022

The guanine-rich RNA sequence binding factor 1 (GRSF1) is an RNA-binding protein of the heterogenous nuclear ribonucleoprotein H/F (hnRNP H/F) family that binds to guanine-rich RNA sequences forming G-quadruplex structures. In mice and humans there are single copy GRSF1 genes, but multiple transcripts have been reported. GRSF1 has been implicated in a number of physiological processes (e.g. embryogenesis, erythropoiesis, redox homeostasis, RNA metabolism) but also in the pathogenesis of viral infections and hyperproliferative diseases. These postulated biological functions of GRSF1 originate from in vitro studies rather than complex in vivo systems. To assess the in vivo relevance of these findings, we created systemic Grsf1−/− knockout mice lacking exons 4 and 5 of the Grsf1 gene and compared the basic functional characteristics of these animals with those of wildtype controls. We found that Grsf1-deficient mice are viable, reproduce normally and have fully functional hematopoietic systems. Up to an age of 15 weeks they develop normally but when male individuals grow older, they gain significantly less body weight than wildtype controls in a gender-specific manner. Profiling Grsf1 mRNA expression in different mouse tissues we observed high concentrations in testis. Comparison of the testicular transcriptomes of Grsf1−/− mice and wildtype controls confirmed near complete knock-out of Grsf1 but otherwise subtle differences in transcript regulations. Comparative testicular proteome analyses suggested perturbed mitochondrial respiration in Grsf1−/− mice which may be related to compromised expression of complex I proteins. Here we present, for the first time, an in vivo complete Grsf1 knock-out mouse with comprehensive physiological, transcriptomic and proteomic characterization to improve our understanding of the GRSF1 beyond in vitro cell culture models.
Wastewater-based surveillance in Italy leading to the first detection of mcr-10-positive Klebsiella quasipneumoniae
Authors: Formenti Nicoletta , Guarneri Flavia , Bertasio Cristina , Parisio Giovanni , Romeo Claudia , Scali Federico , Birbes Laura , Boniotti Maria Beatrice , Diegoli Giuseppe , Candela Loredana , Romeo Gianluca Antonio , Pasquali Paolo , Alborali Giovanni Loris
Published: December 2022

Wastewater-based surveillance enabled the first detection of the mobile colistin resistance genemcr-10in Italy. This plasmid-borne resistance gene was found in strains ofKlebsiella quasipneumoniaeisolated from samples of human raw sewage collected over several months. Although the isolates were phenotypically susceptible to colistin, the emergence ofmcr-10is concerning due to the highly variable expression of the gene and the potential for horizontal transfer to other species. In addition, the strains also carried an extended-spectrum β-lactamase gene and were phenotypically resistant to several beta-lactams. This study highlights the value of wastewater-based surveillance as an effective tool to monitor the emergence of antimicrobial resistance in strains circulating in the community and the environment.
Mid-term outcomes after total hip arthroplasty in 106 Crowe II/III hips: different hip center positions
Authors: Jia Cheng-Qi , Pan Hong-Fa , Wu Yu-Jie , You Yong-Gang , Cao Shi-Qi , Zhang Xue-Song
Published: December 2022

Background

Under the obvious acetabular superolateral bone defect of Crowe II/III hips, this study aimed to investigate the difference in surgical technique of different hip center positions from the surgical data and clinical outcomes.

Methods

From July 2007 to December 2016, 87 patients (106 Crowe II/III hips) consecutively received total hip arthroplasty (THA). The minimum follow-up time was 5 years. The mean limb length discrepancy was 1.97 ± 1.81 cm. Twenty-four hips had surgical histories. The patients were divided into three groups according to the acetabular prosthesis positions, depending on the Crowe classification, respectively, group 1 (Crowe I), group 2 (Crowe II) and group 3 (Crowe III). The surgical data and clinical results were used to evaluate the outcome of different surgical techniques of different hip center positions, including surgical time, blood loss, blood transfusion, number of osteotomy hips, osteotomy length, the distribution of prothesis, postoperative inpatient days, Harris hip scores, Visual Analogue Scale (VAS), Back Pain Function Scale (BPFS) and complications.

Results

The mean follow-up time was 8.93 ± 2.55 years. Nineteen hips performed intraoperative osteotomy. From group 1 to group 3, the mean osteotomy length were 0.53 ± 1.11 cm, 0.05 ± 0.22 cm, and 0.00 ± 0.00 cm, respectively (p = 0.083); the surgical time were 142.57 ± 57.94 min, 118.4 ± 41.22 min, and 120.00 ± 84.85 min, respectively (p = 0.324); the blood loss were 498.21 ± 368.53 mL, 333.33 ± 167.62 mL, and 350.00 ± 212.13 mL, respectively (p = 0.255); the blood transfusion were 288.48 ± 381.68 mL, 128.00 ± 235.17 mL, and 385.00 ± 219.20 mL, respectively (p = 0.199); the postoperative inpatient days were 7.95 ± 4.42 d, 7.47 ± 4.29 d, and 6.50 ± 0.71 d, respectively (p = 0.831). Among the groups, the distribution of acetabular prosthesis, acetabular liner, acetabular prosthesis sizes, femoral head sizes and femoral prothesis distal sizes were not significantly different (p > 0.05). Only the distribution of femoral prosthesis was significantly different (p = 0.046); the Harris, VAS, BPFS, and the distribution of complications were not significantly different (p > 0.05).

Conclusions

We provided a framework to guide decision-making in Crowe II/III hips for surgeons: the surgical technique of different hip center positions was stable and had good outcomes, but the acetabular prothesis position and femoral prothesis should be determined according to the intraoperative situation.

Level of evidence

Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence.
Carbon storages and sequestration potentials in remnant forests of different patch sizes in northern Ethiopia: an implication for climate change mitigation
Authors: Muluneh Melese Genete , Worku Belachew Bogale
Published: December 2022

Background

Forests provide various ecosystem services. They are natural capitals that enhance nature to regulate itself via carbon sinks. However, anthropogenic and natural factors have altered their CO2 sequestration and carbon storage potentials. This study is aimed for examining the effect of patch size and biomass extraction on carbon stocks in northern Ethiopia. A total of 61 sample plots measuring 20 m × 20 m size each (0.04 ha) had been systematically assigned on patches classified into three size categories. However, the numbers of plots taken per patch were different with their sizes. Moreover, stump density has been computed at each plot to estimate the difference in the level of disturbance among patches. Carbon stocks had been estimated via models previously developed. One-way ANOVA was used to examine a variation in carbon stocks and sequestration potentials. Besides, a linear regression analysis was discretely done to examine the relationship between patch sizes, disturbance level, and carbon stocks.

Results

The overall aboveground biomass (ton ha−1) for the studied patches was 2059.13. There was a statistically significant variation in carbon stocks (ton ha−1) among patch size categories. The mean levels of disturbance ranges from 10.83% ± 1.30 to 30.8% ± 4.04. However, statistically significant difference in the level of disturbance was observed between large and small patch size categories, respectively (p < 0.05). Besides, a regression analysis confirmed a significant and negative relationship between patch size and patch disturbances (R2 = 0.65, p < 0.05). However, significant positive relation between carbon stocks (ton ha−1) and patch size (R2 = 0.53, p < 0.05) had observed.

Conclusions

In general, patch size and biomass extinction significantly influenced carbon stocks and CO2 sequestration potentials of forests. Consequently, with the pressing need to mitigate the effects of rising atmospheric CO2, maximizing carbon storage in the forest ecosystem is increasingly considered a viable management strategy. Therefore, disturbed land restoration, increasing forest patch size, sustainable management, and conservation of the existing remnant forest patch is needed to enhance carbon stocks and CO2 sequestration potentials.