bluuebunny/crossref_metadata_2025 huggingface dataset:
Knowledge and perceived competence with sexual and gender minority healthcare topics among medical students and medical school faculty
Authors: Rhodes Allison , Barbati Zachary , Tybor David , Louis Joshua St.
Published: December 2023

Background

Despite changes in social attitudes in the United States over the last decade, sexual and gender minority (SGM) individuals continue to face significant health disparities, driven partly by disproportionately higher rates of self-reported discrimination and harassment when seeking healthcare. Historically, physicians have received little to no required training on how to provide sensitive, competent care to SGM patients, and continue to demonstrate poor competency with SGM topics despite calls for increased education and published guidelines to promote competency. The present study aimed to investigate competency with SGM topics among both faculty and medical students at one institution.

Methods

The authors distributed an anonymous online survey (2020–2021) to medical students and student-facing faculty at one allopathic medical school in the United States. The objective of the study was to evaluate knowledge, clinical skills, and self-reported competence with SGM topics.

Results

Of survey respondents, 223 medical students and 111 faculty were included in final analysis. On average, medical students were significantly more likely to answer General Knowledge questions correctly (97.2%) compared to faculty (89.9%). There were no significant differences in responses to Clinical Knowledge questions between medical students and faculty. however medical students were significantly more likely to report competence with eliciting a thorough sexual history, and faculty were significantly more likely to report receiving adequate clinical training and supervision to work with lesbian, gay, and bisexual patients.

Conclusions

Medical students demonstrated significantly higher general knowledge about SGM topics compared to faculty. Medical students and faculty demonstrated similarly low average clinical knowledge, with percent correct 65.6% for students and 62.7% for faculty. Despite significant differences in general knowledge and low clinical knowledge, medical students and faculty self-reported similar levels of competence with these topics. This indicates insufficient curricular preparation to achieve the AAMC competencies necessary to care for SGM patients.
Impact of automatic acquisition of key clinical information on the accuracy of electrocardiogram interpretation: a cross-sectional study
Authors: Guo Shaohua , Zhang Bufan , Feng Yuanyuan , Wang Yajie , Tse Gary , Liu Tong , Chen Kang-Yin
Published: December 2023

Background

The accuracy of electrocardiogram (ECG) interpretation by doctors are affected by the available clinical information. However, having a complete set of clinical details before making a diagnosis is very difficult in the clinical setting especially in the early stages of the admission process. Therefore, we developed an artificial intelligence-assisted ECG diagnostic system (AI-ECG) using natural language processing to provide screened key clinical information during ECG interpretation.

Methods

Doctors with varying levels of training were asked to make diagnoses from 50 ECGs using a common ECG diagnosis system that does not contain clinical information. After a two-week-blanking period, the same set of ECGs was reinterpreted by the same doctors with AI-ECG containing clinical information. Two cardiologists independently provided diagnostic criteria for 50 ECGs, and discrepancies were resolved by consensus or, if necessary, by a third cardiologist. The accuracy of ECG interpretation was assessed, with each response scored as correct/partially correct = 1 or incorrect = 0.

Results

The mean accuracy of ECG interpretation was 30.2% and 36.2% with the common ECG system and AI-ECG system, respectively. Compared to the unaided ECG system, the accuracy of interpretation was significantly improved with the AI-ECG system (P for paired t-test = 0.002). For senior doctors, no improvement was found in ECG interpretation accuracy, while an AI-ECG system was associated with 27% higher mean scores (24.3 ± 9.4% vs. 30.9 ± 10.6%, P = 0.005) for junior doctors.

Conclusion

Intelligently screened key clinical information could improve the accuracy of ECG interpretation by doctors, especially for junior doctors.
Spiritual care competency and its relationship with clinical self-efficacy in nursing students
Authors: Sahebi Zahra , Barkhordari-Sharifabad Maasoumeh
Published: December 2023

Background

Spiritual care occupies a special place in holistic care and improving the quality of services provided to patients. The component of clinical self-efficacy is recognized as a prerequisite for clinical capacity and competency. The current study determined the level of spiritual care competency and its relationship with clinical self-efficacy in nursing students.

Methods

This cross-sectional study was conducted on 194 nursing students studying in medical sciences universities in Yazd, Iran, who were selected by convenient sampling. Data collection tools were a spiritual care competency scale and nursing students’ clinical self-efficacy questionnaire. The gleaned data were analyzed by SPSS20 using descriptive and inferential statistics.

Results

The mean scores of spiritual care competency and clinical self-efficacy of students were 70.29 ± 9.58 and 102.40 ± 21.57, respectively. The results of Pearson’s correlation coefficient test showed that clinical self-efficacy had a positive significant correlation with spiritual care competency (p = 0.04, r = 0.14). The mean score of spiritual care competency was higher in female students (71.10 ± 9.81) than male students (67.50 ± 8.23) with a statistically significant difference (p < 0.05). The regression test results suggested that clinical self-efficacy can be considered as a predictor of spiritual care competency.

Conclusion

The results revealed that spiritual care competency in nursing students was at an average level, and the higher the level of clinical self-efficacy is, the more developed the spiritual care competency will be. Thus, nursing educators and health system managers should pay special attention to improving the clinical self-efficacy of nursing students to develop their spiritual care competency.
Data-driven meal events detection using blood glucose response patterns
Authors: F. de Carvalho Danilo , Kaymak Uzay , Van Gorp Pieter , van Riel Natal
Published: December 2023

Background

In the Diabetes domain, events such as meals and exercises play an important role in the disease management. For that, many studies focus on automatic meal detection, specially as part of the so-called artificial $$\beta$$
β
-cell systems. Meals are associated to blood glucose (BG) variations, however such variations are not peculiar to meals, it mostly comes as a combination of external factors. Thus, general approaches such as the ones focused on glucose signal rate of change are not enough to detect personalized influence of such factors. By using a data-driven individualized approach for meal detection, our method is able to fit real data, detecting personalized meal responses even when such external factors are implicitly present.

Methods

The method is split into model training and selection. In the training phase, we start observing meal responses for each individual, and identifying personalized patterns. Occurrences of such patterns are searched over the BG signal, evaluating the similarity of each pattern to each possible signal subsequence. The most similar occurrences are then selected as possible meal event candidates. For that, we include steps for excluding less relevant neighbors per pattern, and grouping close occurrences in time globally. Each candidate is represented by a set of time and response signal related qualitative variables. These variables are used as input features for different binary classifiers in order to learn to classify a candidate as Meal or Non-Meal. In the model selection phase, we compare all trained classifiers to select the one that performs better with the data of each individual.

Results

The results show that the method is able to detect daily meals, providing a result with a balanced proportion between detected meals and false alarms. The analysis on multiple patients indicate that the approach achieves good outcomes when there is enough reliable training data, as this is reflected on the testing results.

Conclusions

The approach aims at personalizing the meal detection task by relying solely on data. The premise is that a model trained with data that contains the implicit influence of external factors is able to recognize the nuances of the individual that generated the data. Besides, the approach can also be used to improve data quality by detecting meals, opening opportunities to possible applications such as detecting and reminding users of missing or wrongly informed meal events.
Association between adequacy of antenatal care and neonatal outcomes in Rwanda: a cross-sectional study design using the Rwanda demographic and health surveys
Authors: Uwimana Gérard , Elhoumed Mohamed , Gebremedhin Mitslal Abrha , Qi Qi , Azalati Mougni Mohamed , Wang Liang , Zeng Lingxia
Published: December 2023

Background

Maternal and neonatal health services are life-saving interventions for neonatal health outcomes. As Rwanda endeavors to accomplish sustainable development goals, adequate ANC is essential to lessen of neonatal mortality. The utilization of ANC continues to be inadequate and high neonatal mortality rate persevere in Rwanda. Understanding the direct and indirect factors that affect newborn health outcomes is necessary for well-targeted interventions. However, few studies had been conducted in Rwanda to evaluate the importance of ANC in improving neonatal health. This study therefore assessed the association between ANC and neonatal outcomes.

Methods

The Demographic and Health Surveys (DHS) are household surveys that are cross-sectional, nationally representative, and used to collect data on population, health, and nutrition. Data from the 2010,2015 and 2020 Rwanda Demographic and Health Surveys (RDHS) were used. The study involved 17,747 women between the ages of 15 and 49 who had a single live birth and at least one ANC visit in five years prior to each survey. Bivariate and multivariable logistic regression, a survey adjusted for clusters at multiple level, and the estimation of adjusted odds ratios (aOR) and 95% confidence intervals were used to evaluate the relationship between the outcome and independent variables.

Results

Out of 17,747 women ;7638(42.91%) of the mothers had adequate ANC visits and low birth weight (LBW) was found among 833(4.63%) neonates. The birth of a LBW baby (aOR:4.64;95%CI:3.19,6.74) was directly related to increased odds of neonatal death. Mothers aged 20–34 years (aOR:0.40; 95%CI:0.20,0.81), a preceding birth interval of 24months or greater (aOR:0.41:95%CI:0.28,0.60), baby being female (aOR:0.72; 95%CI:0.54,0.96), having adequate ANC visits (aOR:0.64;95% CI:0.46,0.89) and the birth order of the newborn being ranked second or third (aOR:0.60; 95%CI:0.38,0.95) were negatively associated with neonatal death.

Conclusion

Health education programs targeting teen and primigravida mothers should be encouraged. Among the newborn survival interventions, addressing short birth intervals and the effective management of LBW cases should be explored. The findings confirm the fundamental importance of adequate ANC in the neonatal survival.
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics
Authors: Wang Jie , Wu Yihan , Dong Hong , Ji Yunpeng , Zhang Lichun , Liu Yaxian , Liu Yueshi , Gao Xin , Jia Yueqi , Wang Xiaohua
Published: December 2023

Objective

Haploinsufficiency is widely accepted as the pathogenic mechanism of hereditary spastic paraplegias type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. The aim of this study was to identify the causative variant of SPG4 in a large Chinese family and explore its pathological mechanism.

Materials and methods

A five-generation family with 49 members including nine affected (4 males and 5 females) and 40 unaffected individuals in Mongolian nationality was recruited. Whole exome sequencing was employed to investigate the genetic etiology. Western blotting and immunofluorescence were used to analyze the effects of the mutant proteins in vitro.

Results

A novel frameshift variant NM_014946.4: c.483_484delinsC (p.Val162Leufs*2) was identified in SPAST from a pedigree with SPG4. The variant segregated with the disease in the family and thus determined as the disease-causing variant. The c.483_484delinsC variant produced two truncated mutants (mutant M1 and M87 isoforms). They accumulated to a higher level and presented increased stability than their wild-type counterparts and may lost the microtubule severing activity.

Conclusion

SPAST mutations leading to premature stop codons do not always act through haploinsufficiency. The potential toxicity to the corticospinal tract caused by the intracellular accumulation of truncated spastin should be considered as the pathological mechanism of SPG4.
Enhancement of novel Endo-polygalacturonase expression in Rhodotorula mucilaginosa PY18: insights from mutagenesis and molecular docking
Authors: Abd El-Aziz Nagwa M. , Moharam Maysa E. , El-Gamal Nora N. , Khalil Bigad E.
Published: December 2023

Pectinase is a particular type of enzyme that can break down pectin compounds and is extensively utilised in the agricultural field. In this study, twenty yeast isolates were isolated and assayed for pectinase activity. Molecular identification by PCR amplification and sequencing of internal transcribed spacer (ITS) regions of isolate no. 18 had the highest pectinase activity of 46.35 U/mg, was identified as Rhodotorula mucilaginosa PY18, and was submitted under accession no. (OM275426) in NCBI. Rhodotorula mucilaginosa PY18 was further enhanced through sequential mutagenesis, resulting in a mutant designated as Rhodotorula mucilaginosa E54 with a specific activity of 114.2 U/mg. Using Response Surface Methodology (RSM), the best culture conditions for the pectinase-producing yeast mutant Rhodotorula mucilaginosa E54 were pH 5, 72-h incubation, 2.5% xylose, and 2.5% malt extract, with a pectinase-specific activity of 156.55 U/mg. Then, the obtained sequences of the endo-polygalacturonase PGI gene from Rhodotorula mucilaginosa PY18 and mutant Rhodotorula mucilaginosa E54 were isolated for the first time, sequenced, and submitted to NCBI accession numbers OQ283005 and OQ283006, respectively. The modelled 3D structure of the endo-PGI enzyme (485 residues) was validated using Ramachandran’s plot, which showed 87.71, 85.56, and 91.57% in the most favourable region for template Rhodotorula mucilaginosa KR, strain Rhodotorula mucilaginosa PY18, and mutant Rhodotorula mucilaginosa E54, respectively. In molecular docking studies, the results of template Rhodotorula mucilaginosa KR endo-PG1 showed an interaction with an affinity score of − 6.0, − 5.9, and − 5.6 kcal/mol for active sites 1, 2, and 3, respectively. Rhodotorula mucilaginosa PY18 endo-PG1 showed an interaction affinity with a score of − 5.8, − 6.0, and − 5.0 kcal/mol for active sites 1, 2, and 3, respectively. Mutant Rhodotorula mucilaginosa E54 endo-PG1 showed an interaction affinity of − 5.6, − 5.5, – 5.5 and − 5.4 kcal/mol for active sites 1, 2, and 3, respectively. The endo-PGI genes of both the yeast strain Rhodotorula mucilaginosa PY18 and mutant Rhodotorula mucilaginosa E54 were successfully cloned and expressed in E. coli DH5α, showing significantly higher endo-PG1 activity, which recorded 94.57 and 153.10 U/mg for recombinant Rhodotorula mucilaginosa pGEM-PGI-PY18 and recombinant mutant Rhotorula pGEM-PGI-E54, respectively.
First report of Anopheles stephensi from southern Ethiopia
Authors: Hawaria Dawit , Kibret Solomon , Zhong Daibin , Lee Ming-Chieh , Lelisa Kidane , Bekele Belayneh , Birhanu Muntasha , Mengesha Mathe , Solomon Hiwot , Yewhalaw Delenesaw , Yan Guiyun
Published: December 2023

Background

Anopheles stephensi is an emerging exotic invasive urban malaria vector in East Africa. The World Health Organization recently announced an initiative to take concerted actions to limit this vector’s expansion by strengthening surveillance and control in invaded and potentially receptive territories in Africa. This study sought to determine the invasion of An. stephensi in southern Ethiopia.

Methods

A targeted entomological survey, both larvae and adult, was conducted in Hawassa City, southern Ethiopia between November 2022 and February 2023. Anopheles larvae were reared to adults for species identification. CDC light traps and BG Pro traps were used indoors and outdoors overnight at selected houses to collect adult mosquitoes in the study area. Prokopack aspirator was employed to sample indoor resting mosquitoes in the morning. Adults of An. stephensi was identified using morphological keys and then confirmed by PCR.

Results

Larvae of An. stephensi were found in 28 (16.6%) of the 169 potential mosquito breeding sites surveyed. Out of 548 adult female Anopheles mosquitoes reared from larvae, 234 (42.7%) were identified as An. stephensi morphologically. A total of 449 female anophelines were caught, of which 53 (12.0%) were An. stephensi. Other anopheline species collected in the study area included Anopheles gambiae sensu lato (s.l.), Anopheles pharoensis, Anopheles coustani, and Anopheles demeilloni.

Conclusion

This study confirmed the presence of An. stephensi in southern Ethiopia. The presence of both larval and adult stages of this mosquito attests that this species established sympatric colonization with native vector species such as An. gambiae (s.l.) in southern Ethiopia. The findings warrant further investigation on the ecology, behaviour, population genetics, and role of An. stephensi in malaria transmission in Ethiopia.
Cost analysis of the management of end-stage renal disease patients in Abuja, Nigeria
Authors: Agada-Amade Yakubu Adole , Ogbuabor Daniel Chukwuemeka , Eboreime Ejemai , Onwujekwe Obinna Emmanuel
Published: December 2023

Background

Although the treatment for end-stage renal disease (ESRD) under Nigeria’s National Health Insurance Authority is haemodialysis (HD), the cost of managing ESRD is understudied in Nigeria. Therefore, this study estimated the provider and patient direct costs of haemodialysis and managing ESRD in Abuja, Nigeria.

Method

The study was a cross-sectional survey from both healthcare provider and consumer perspectives. We collected data from public and private tertiary hospitals (n = 6) and ESRD patients (n = 230) receiving haemodialysis in the selected hospitals. We estimated the direct providers’ costs using fixed and variable costs. Patients’ direct costs included drugs, laboratory services, transportation, feeding, and comorbidities. Additionally, data on the sociodemographic and clinical characteristics of patients were collected. The costs were summarized in descriptive statistics using means and percentages. A generalized linear model (gamma with log link) was used to predict the patient characteristics associated with patients’ cost of haemodialysis.

Results

The mean direct cost of haemodialysis was $152.20 per session (providers: $123.69; and patients: $28.51) and $23,742.96 annually (providers: $19,295.64; and patients: $4,447.32). Additionally, patients spent an average of $2,968.23 managing comorbidities. The drivers of providers’ haemodialysis costs were personnel and supplies. Residing in other towns (HD:β = 0.55, ρ = 0.001; ESRD:β = 0.59, ρ = 0.004), lacking health insurance (HD:β = 0.24, ρ = 0.038), attending private health facility (HD:β = 0.46, ρ < 0.001; ESRD: β = 0.75, ρ < 0.001), and greater than six haemodialysis sessions per month (HD:β = 0.79, ρ < 0.001; ESRD: β = 0.99, ρ < 0.001) significantly increased the patient’s out-of-pocket spending on haemodialysis and ESRD.

Conclusion

The costs of haemodialysis and managing ESRD patients are high. Providing public subsidies for dialysis and expanding social health insurance coverage for ESRD patients might reduce the costs.
Frequency jumps and subharmonic components in calls of female Odorrana tormota differentially affect the vocal behaviors of male frogs
Authors: Wu Yatao , Luo Xiuli , Chen Pan , Zhang Fang
Published: December 2023

Studies have demonstrated that the sounds of animals from many taxa with nonlinear phenomena (NLP)—caused by nonlinear characteristics of vocal organ dynamics that lead to nonlinear vocal phenomena—can influence the behavior of receivers. However, the specific functions of different NLP components have received less attention. In most frog species, females produce few or no vocalizations; in contrast, female Odorrana tormota exhibit a diverse range of calls that are rich in NLP components. Previous field playbacks have shown that the female calls can elicit responses from male frogs. Therefore, we conducted a phonotaxis experiment to investigate the differential effects of different NLP calls by female O. tormota on the vocal behavior of male frogs. The results revealed that calls with subharmonics elicited a greater number of short calls and answering calls from male frogs compared to calls with frequency jumps. However, calls with frequency jumps triggered more staccato calls from males than calls with subharmonics. Additionally, during the phonotaxis experiments, we recorded the initial vocalizations of males in response to playbacks of female calls. The majority of males first produced short calls. Under calls with frequency jumps, most of male frogs approaching within 10 cm of the loudspeaker produced staccato calls instead of “meow” calls or short calls. While under calls with subharmonics, most male frogs preferred to produced short calls. Our findings demonstrate that frequency jumps and subharmonic components in the calls of female O. tormota have different effects on male vocal behaviors. The current study lays a foundation for a further understanding of the function of anuran NLP components.
Renomegaly and acute kidney injury as primary manifestations of non-Hodgkin’s lymphoma: a report of three cases
Authors: Bai Yu , Zheng Yuanyuan , Zhang Qidong , Jiang Qun , Diao Zongli , Guo Wang , Liu Sha , Liu Wenhu
Published: December 2023

Background

In adults with non-Hodgkin's lymphoma, renal enlargement and acute kidney injury occur infrequently at first presentation, especially in T lymphocytic lymphomas.

Case presentation

We report three cases of non-Hodgkin’s lymphoma with acute renal injury and bilateral renal enlargement. At diagnosis, one patient presented with an adrenal mass, one patient's lymph node biopsy was consistent with a renal biopsy, and one patient had primary renal lymphoma with no extrarenal disease. Assessment of renal pathology in Case 2 and Case 3 showed interstitial lymphocyte infiltration; the pathological types were non-Hodgkin's diffuse large B lymphoma originating from activated B cells outside germinal centers and non-Hodgkin's T-lymphoblastic lymphoma/leukemia, respectively. Case 1 did not receive anti-lymphoma therapy and died from infection and multiple organ failure within 1 month of hospitalization. Case 2 received eight courses of R-CHOP; her lymphoma recurred 2 years after diagnosis and she died from severe pulmonary infection 3 years after diagnosis. Case 3 received hyper-CVAD regularly and achieved stable renal function; this patient remains under follow-up.

Conclusions

Renal lymphoma may have diverse manifestations, especially primary renal lymphoma without extrarenal involvement. Nephrologists should pay careful attention to these manifestations to ensure accurate diagnosis.
Novel in silico screening system for plant defense activators using deep learning-based prediction of reactive oxygen species accumulation
Authors: Kogoshi Masayuki , Nishio Daiki , Kitahata Nobutaka , Ohwada Hayato , Kuchitsu Kazuyuki , Mizuno Hideyuki , Kurusu Takamitsu
Published: December 2023

Background

Plant defense activators offer advantages over pesticides by avoiding the emergence of drug-resistant pathogens. However, only a limited number of compounds have been reported. Reactive oxygen species (ROS) act as not only antimicrobial agents but also signaling molecules that trigger immune responses. They also affect various cellular processes, highlighting the potential ROS modulators as plant defense activators. Establishing a high-throughput screening system for ROS modulators holds great promise for identifying lead chemical compounds with novel modes of action (MoAs).

Results

We established a novel in silico screening system for plant defense activators using deep learning-based predictions of ROS accumulation combined with the chemical properties of the compounds as explanatory variables. Our screening strategy comprised four phases: (1) development of a ROS inference system based on a deep neural network that combines ROS production data in plant cells and multidimensional chemical features of chemical compounds; (2) in silico extensive-scale screening of seven million commercially available compounds using the ROS inference model; (3) secondary screening by visualization of the chemical space of compounds using the generative topographic mapping; and (4) confirmation and validation of the identified compounds as potential ROS modulators within plant cells. We further characterized the effects of selected chemical compounds on plant cells using molecular biology methods, including pathogenic signal-triggered enzymatic ROS induction and programmed cell death as immune responses. Our results indicate that deep learning-based screening systems can rapidly and effectively identify potential immune signal-inducible ROS modulators with distinct chemical characteristics compared with the actual ROS measurement system in plant cells.

Conclusions

We developed a model system capable of inferring a diverse range of ROS activity control agents that activate immune responses through the assimilation of chemical features of candidate pesticide compounds. By employing this system in the prescreening phase of actual ROS measurement in plant cells, we anticipate enhanced efficiency and reduced pesticide discovery costs. The in-silico screening methods for identifying plant ROS modulators hold the potential to facilitate the development of diverse plant defense activators with novel MoAs.
Predictive value of clinical features and CT radiomics in the efficacy of hip preservation surgery with fibula allograft
Authors: Xue Peng , Xi Hongzhong , Chen Hao , He Shuai , Liu Xin , Du Bin
Published: December 2023

Background

Despite being an effective treatment for osteonecrosis of the femoral head (ONFH), hip preservation surgery with fibula allograft (HPS&FA) still experiences numerous failures. Developing a prediction model based on clinical and radiomics predictors holds promise for addressing this issue.

Methods

This study included 112 ONFH patients who underwent HPS&FA and were randomly divided into training and validation cohorts. Clinical data were collected, and clinically significant predictors were identified using univariate and multivariate analyses to develop a clinical prediction model (CPM). Simultaneously, the least absolute shrinkage and selection operator method was employed to select optimal radiomics features from preoperative hip computed tomography images, forming a radiomics prediction model (RPM). Furthermore, to enhance prediction accuracy, a clinical-radiomics prediction model (CRPM) was constructed by integrating all predictors. The predictive performance of the models was evaluated using receiver operating characteristic curve (ROC), area under the curve (AUC), DeLong test, calibration curve, and decision curve analysis.

Results

Age, Japanese Investigation Committee classification, postoperative use of glucocorticoids or alcohol, and non-weightbearing time were identified as clinical predictors. The AUC of the ROC curve for the CPM was 0.847 in the training cohort and 0.762 in the validation cohort. After incorporating radiomics features, the CRPM showed improved AUC values of 0.875 in the training cohort and 0.918 in the validation cohort. Decision curves demonstrated that the CRPM yielded greater medical benefit across most risk thresholds.

Conclusion

The CRPM serves as an efficient prediction model for assessing HPS&FA efficacy and holds potential as a personalized perioperative intervention tool to enhance HPS&FA success rates.
Is the association between mothers’ autistic traits and childhood autistic traits moderated by maternal pre-pregnancy body mass index?
Authors: Sari Novika Purnama , Tsompanidis Alexandros , Wahab Rama J. , Gaillard Romy , Aydin Ezra , Holt Rosemary , Allison Carrie , Baron-Cohen Simon , van IJzendoorn Marinus H. , Jansen Pauline W.
Published: December 2023

Background

Previous studies showed that there is a positive association between mothers’ and children’s autistic traits. We also tested if this association is more pronounced in mothers with a higher pre-pregnancy body mass index (BMI).

Method

The study was embedded in two cohorts with information available for 4,659 participants from the Generation R and for 179 participants from the Cambridge Ultrasound Siblings and Parents Project (CUSP) cohort. In both cohorts, maternal autistic traits were assessed using the short form of the Autism Spectrum Quotient, and information about maternal height and weight before pregnancy was obtained by questionnaire. Child autistic traits were assessed with the short form of Social Responsiveness Scale in Generation R (M = 13.5 years) and with the Quantitative Checklist for Autism in Toddlers (Q-CHAT) in the CUSP cohort (M = 1.6 years).

Result

Higher maternal autistic traits were associated with higher autistic traits in toddlerhood (CUSP cohort; βadjusted = 0.20, p < 0.01), in early childhood (Generation R; βadjusted = 0.19, p < 0.01), and in early adolescence (Generation R; βadjusted = 0.16, p < 0.01). Furthermore, a higher maternal pre-pregnancy BMI was associated with higher child autistic traits, but only in Generation R (βadjusted = 0.03, p < 0.01). There was no significant moderating effect of maternal pre-pregnancy BMI on the association between autistic traits of mothers and children, neither in Generation R nor in CUSP. In addition, child autistic traits scores were significantly higher in mothers who were underweight and in mothers who were overweight compared to mothers with a healthy weight.

Conclusion

We confirm the association between maternal and child autistic traits in toddlerhood, early childhood, and early adolescence. Potential interacting neurobiological processes remain to be confirmed.
High-grade HER2-positive mucoepidermoid carcinoma of the breast: a case report and review of the literature
Authors: Mura Mario Della , Clement Céline , Foschini Maria P. , Vander Borght Sara , Waumans Lise , Van Eyken Peter , Hauben Esther , Keupers Machteld , Weltens Caroline , Smeets Ann , Nevelsteen Ines , Floris Giuseppe
Published: December 2023

Background

Mucoepidermoid carcinoma of the breast is a rare special type of salivary gland-like tumor of the breast, usually displaying triple-negative phenotype. To date, only 64 cases have been reported in the English literature. Herein, we report the first case of mucoepidermoid carcinoma of the breast with human epidermal growth factor receptor 2 gene amplification.

Case presentation

A 58-year-old Caucasian woman treated with breast-conserving surgery, radiotherapy, and chemotherapy for an invasive breast carcinoma of no special type, relapsed 20 years later in the ipsilateral left breast. Histological examination of the core needle biopsy of the relapse deferred to the surgical specimen for the definitive diagnosis, because of the broad differential diagnosis. On the resected specimen we observed the presence of a poorly differentiated carcinoma with mucoepidermoid carcinoma of the breast typical features consisting of epidermoid, intermediate and mucinous cells lacking true keratinization, in keeping with the latest World Health Organization diagnostic criteria. The mucoepidermoid carcinoma of the breast was weakly estrogen receptor and androgen receptor positive and progesterone receptor negative, but exceptionally showed human epidermal growth factor receptor 2 gene amplification. Mastermind-like transcriptional coactivator 2 gene translocations were not detected by fluorescent in situ hybridization. The patient received adjuvant chemotherapy with anti-human epidermal growth factor receptor 2 therapy but no endocrine therapy. After 61 months of follow-up, no signs of local or distant recurrence were observed.

Conclusions

Mucoepidermoid carcinoma of the breast is a very rare entity. Despite being most frequently triple negative, the standard evaluation of receptor status is mandatory, as well as strict application of World Health Organization diagnostic criteria for correct patient management.
Antibiotic-loaded spacer arthroplasty in a terrible triad injury with unreconstructable radial head fracture: a case report
Authors: Barati Hasan , Baroutkoub Mojtaba , Zabeti Targhi Nikaein , Beheshti Fard Shahabaldin , Hajikarimloo Bardia , Afzal Sina
Published: December 2023

Background

Radial head arthroplasty is a viable option in cases with terrible triad injuries of elbow, wherein the radial head sustains significant comminution that precludes reconstruction. Nevertheless, this alternative is not recommended for individuals with poor elbow skin conditions, accompanied neuropsychiatric disorders, or low patient compliance. This case report presents a patient with bilateral terrible triad injury, along with the aforementioned conditions. The report outlines the treatment challenges of such a case and proposes potential solutions.

Case presentation

A 37-year-old Persian male patient presenting with a bilateral terrible triad fracture–dislocation and a history of psychoactive substance abuse, was admitted to our emergency department. The patient underwent radial head replacement using a cement spacer containing antibiotics, due to the comminuted radial head in the presence of a contaminated wound on the left elbow. The fracture of the right side was successfully fixed. Subsequent to discharge, the patient did not attend any follow-up appointments. After a period of 6 months, he was admitted to the psychiatric ward and orthopedic consultation was requested to evaluate the patient.

Conclusion

In acute terrible triad injuries with unreconstructable radial head fractures where arthroplasty with metallic prostheses may not be suitable due to contaminated wounds, unstable psychiatric condition, and low patient cooperation, temporary orthopedic cement spacers can maintain elbow biomechanics, stability, and sterility.
HybridGCN for protein solubility prediction with adaptive weighting of multiple features
Authors: Chen Long , Wu Rining , Zhou Feixiang , Zhang Huifeng , Liu Jian K.
Published: December 2023

The solubility of proteins stands as a pivotal factor in the realm of pharmaceutical research and production. Addressing the imperative to enhance production efficiency and curtail experimental costs, the demand arises for computational models adept at accurately predicting solubility based on provided datasets. Prior investigations have leveraged deep learning models and feature engineering techniques to distill features from raw protein sequences for solubility prediction. However, these methodologies have not thoroughly delved into the interdependencies among features or their respective magnitudes of significance. This study introduces HybridGCN, a pioneering Hybrid Graph Convolutional Network that elevates solubility prediction accuracy through the combination of diverse features, encompassing sophisticated deep-learning features and classical biophysical features. An exploration into the intricate interplay between deep-learning features and biophysical features revealed that specific biophysical attributes, notably evolutionary features, complement features extracted by advanced deep-learning models. Augmenting the model’s capability for feature representation, we employed ESM, a substantial protein language model, to derive a zero-shot learning feature capturing comprehensive and pertinent information concerning protein functions and structures. Furthermore, we proposed a novel feature fusion module termed Adaptive Feature Re-weighting (AFR) to integrate multiple features, thereby enabling the fine-tuning of feature importance. Ablation experiments and comparative analyses attest to the efficacy of the HybridGCN approach, culminating in state-of-the-art performances on the public eSOL and S. cerevisiae datasets.
Independently convolutional gated recurrent neural unit for space-based ADS-B signal separation with single antenna
Authors: Li Chuankun , Bi Yan
Published: December 2023

Automatic Dependent Surveillance-Broadcast (ADS-B) is a critical technology to transform aircraft navigation by improving safety and overall effectiveness in the aviation industry. However, overlapping of ADS-B signals is a large challenge, especially for space-based ADS-B systems. Existing traditional methods are not effective when dealing with cases that overlapped signals with small difference (such as power difference and carrier frequency difference) require to be separated. In order to generate an effective separation performance of the ADS-B signals by exploring its temporal relationship, Independently Convolutional Gated Recurrent Neural Unit (Ind-CGRU) is presented for encoder–decoder network construction. Experimental results on the dataset SR-ADSB demonstrate that the proposed Ind-CGRU achieves good performance.
Existence and multiplicity of solutions for boundary value problem of singular two-term fractional differential equation with delay and sign-changing nonlinearity
Authors: Bai Rulan , Zhang Kemei , Xie Xue-Jun
Published: December 2023

In this paper, we consider the existence of solutions for a boundary value problem of singular two-term fractional differential equation with delay and sign-changing nonlinearity. By means of the Guo–Krasnosel’skii fixed point theorem and the Leray–Schauder nonlinear alternative theorem, we obtain some results on the existence and multiplicity of solutions, respectively.
Rich dynamics of a delayed SIRS epidemic model with two-age structure and logistic growth
Authors: Yan Dongxue , Cao Yu
Published: December 2023

This paper studies a two-age structured SIRS epidemic model with logistic growth of susceptible population and two-time delays. We simultaneously introduce two-time delays, i.e., the immunity and incubation periods, into this dynamic system and investigate their impact on different dynamic behaviors for the model. By means of the $C_{0}$

C
0

-semigroup theory, the model is transformed into a non-densely defined abstract Cauchy problem, and the condition of the existence and uniqueness of the endemic equilibrium is obtained. Following the spectral analysis, the characteristic equation technique, and the Hopf bifurcation theorem, we show that different combinations of the two delays perform a vital role in the instability/stability as well as the Hopf bifurcation results of equilibrium solutions. We numerically provide some graphical representations to check the main theoretical results and show the rich dynamics by varying the two delay parameters.
Antitumor effect of a small-molecule inhibitor of KRASG12D in xenograft models of mucinous appendicular neoplasms
Authors: Vázquez-Borrego Mari C. , Granados-Rodríguez Melissa , Bura Florina I. , Martínez-López Ana , Rufián-Andújar Blanca , Valenzuela-Molina Francisca , Rodríguez-Ortiz Lidia , Haro-Yuste Sergio , Moreno-Serrano Ana , Ortega-Salas Rosa , Pineda-Reyes Rafael , Michán Carmen , Alhama José , Romero-Ruiz Antonio , Arjona-Sánchez Álvaro
Published: December 2023

Pseudomyxoma peritonei (PMP) is a rare disease characterized by a massive accumulation of mucus in the peritoneal cavity. The only effective treatment is aggressive surgery, aimed at removing all visible tumors. However, a high percentage of patients relapse, with subsequent progression and death. Recently, there has been an increase in therapies that target mutated oncogenic proteins. In this sense, KRAS has been reported to be highly mutated in PMP, with KRASG12D being the most common subtype. Here, we tested the efficacy of a small-molecule KRASG12D inhibitor, MRTX1133, in a high-grade PMP xenograft mouse model carrying a KRASG12D mutation. The results obtained in this work showed a profound inhibition of tumor growth, which was associated with a reduction in cell proliferation, an increase in apoptosis, and a reduction in the MAPK and PI3K/AKT/mTOR signaling pathways. In conclusion, these results demonstrate the high potency and efficacy of MRTX1133 in KRASG12D-PMP tumors and provide a rationale for clinical trials.
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Authors: Bao Xiuqin , Qin Danqing , Wang Jicheng , Chen Jing , Yao Cuize , Liang Jie , Liang Kailing , Wang Yixia , Wang Yousheng , Du Li , Yin Aihua
Published: December 2023

Background

β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered.

Results

In this study, we found two novel deletion mutations in two unrelated families, HBB: c.180delG (termed βCD59) and HBB: c.382_402delCAGGCTGCCTATCAGAAAGTG (termed βCD128-134) in family A and B, respectively. Both the two novel mutations lead to β-thalassemia trait. However, when compounded with other β0-thalassemia, it may behave with β-thalassemia intermedia or β-thalassemia major.

Conclusion

Our study broadens the variants spectral of β-thalassemia in Chinese population and provides theoretical guidance for the prenatal diagnosis.
The coverage and challenges of increasing uptake of non-National Immunization Program vaccines in China: a scoping review
Authors: Jiang Mingzhu , Chen Shu , Yan Xuanxuan , Ying Xiaohua , Tang Shenglan
Published: December 2023

Background

Non-National Immunization Program (NIP) vaccines have played an important role in controlling vaccine-preventable diseases (VPDs) in China. However, these vaccines are paid out of pocket and there is room to increase their coverage. We focused on four selected non-NIP vaccines in this study, namelyHaemophilus influenzaetype b (Hib) vaccine, human papillomavirus (HPV) vaccine, pneumococcal conjugate vaccine (PCV), and rotavirus vaccine. We aimed to conduct a scoping review of their vaccination rates and the major barriers faced by health systems, providers, and caregivers to increase coverage.

Methods

We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR). We searched five English databases (PubMed, Web of Science, EMBASE, Scopus, and WHO IRIS) and four Chinese databases using the search strategy developed by the study team. Two independent reviewers screened, selected studies, and examined their quality. We summarized the non-NIP vaccine coverage data by vaccine and applied the 5A framework (Access, Affordability, Acceptance, Awareness, Activation) to chart and analyze barriers to increasing coverage.

Results

A total of 28 articles were included in the analysis (nine pertaining to vaccine coverage, and another 19 reporting challenges of increasing uptake). Among the four selected vaccines, coverage for the Hib vaccine was the highest (54.9–55.9% for 1 dose or more from two meta-analyses) in 2016, while the coverage of the other three vaccines was lower than 30%. Eight of the nine included articles mentioned the regional disparity of coverage, which was lower in under-developing regions. For example, the three-dose Hib vaccination rate in eastern provinces was 38.1%, whereas the rate in central and western provinces was 34.3% and 26.2%, respectively in 2017. Within the 5A framework, acceptance, awareness, and affordability stood out as the most prominent themes. Among the 12 identified sub-themes, high prices, low vaccine awareness, concerns about vaccine safety and efficacy were the most cited barriers to increasing the uptake.

Conclusions

There is an urgent need to increase coverage of non-NIP vaccines and reduce disparities in access to these vaccines across regions. Concerted efforts from the government, the public, and society are required to tackle the barriers and challenges identified in this study, both on the demand and supply side, to ensure everybody has equal access to life-saving vaccines in China. Particularly, the government should take a prudent approach to gradually incorporate non-NIP vaccines into the NIP step by step, and make a prioritizing strategy based on key factors such as disease burden, financial resources, and market readiness, with special attention to high-risk populations and underdeveloped regions.

Graphical Abstract
Validation of a Latin-American Spanish version of the Body Esteem Scale for Adolescents and Adults (BESAA-LA) in Colombian and Nicaraguan adults
Authors: Andres Fabienne E. , Thornborrow Tracey , Bowie Wienis N. , Chamorro Ana Maria , De la Rosa Gisell , Evans Elizabeth H. , Fontalvo Acuña Laura S. , Kolar David R. , Mebarak Moises R. , Tovar Castro Juan Camilo , Boothroyd Lynda G.
Published: December 2023

Background

Body dissatisfaction (BD) is a growing concern in Latin America; reliable and culturally appropriate scales are necessary to support body image research in Spanish speaking Latin American countries. We sought to validate a Latin-American Spanish version of the Body Esteem Scale for Adolescents and Adults (BESAA; Mendelson et al. 2001).

Methods

The BESAA was translated, culturally adapted, and validated in a sample of adults in Colombia (N = 525, 65% women, Mage 24.4, SD = 9.28). We assessed factor structure (using confirmatory factor analysis (CFA), exploratory factor analysis (EFA) and exploratory structural equation model (ESEM)), internal reliability (using Cronbach’s alpha and omega), validity (using the Body Appreciation Scale BAS and Sociocultural Attitudes Towards Appearance Questionnaire SATAQ), test–retest stability in a small subsample (N = 84, using Intraclass correlations ICC) and measurement invariance across gender. To evaluate the generalizability of the scale, we assessed reliability, validity, and factor structure in a second sample from rural Nicaragua (N = 102, 73% women, Mage 22.2, SD = 4.72), and assessed measurement invariance across Nicaraguan and Colombian participants.

Results

The scale showed good internal reliability and validity in both samples, and there was evidence of adequate test–retest stability in the Colombian sample. EFA showed a three-factor structure with subscales we labelled ‘appearance-positive’, ‘appearance-negative’ and ‘weight’, that was confirmed using CFA and ESEM in the Colombian sample. Measurement invariance was confirmed across the Colombian and Nicaraguan samples, and across gender within the Colombian sample.

Conclusion

The Latin-American Spanish version of the BESAA (BESAA-LA) appears to be a psychometrically sound measure with good reliability, validity and invariance across gender and countries. These results support the use of this scale to measure body satisfaction/dissatisfaction in Latin American adult populations.