bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?
Authors: Cong Xiaoyi , Zhang Tong , Li Zhenming , Luo Xiaojin , Hu Liang , Liu Weiqiang 
Published: May 2024

Abstract
Objective
This study aims to perform a prenatal genetic diagnosis of a high-risk fetus with trisomy 7 identified by noninvasive prenatal testing (NIPT) and to evaluate the efficacy of different genetic testing techniques for prenatal diagnosis of trisomy mosaicism.

Methods
For prenatal diagnosis of a pregnant woman with a high risk of trisomy 7 suggested by NIPT, karyotyping and chromosomal microarray analysis (CMA) were performed on an amniotic fluid sample. Low-depth whole-genome copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were used to clarify the results further. In addition, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to analyze the possibility of uniparental disomy(UPD).

Results
Amniotic fluid karyotype analysis revealed a 46, XX result. Approximately 20% mosaic trisomy 7 was detected according to the CMA result. About 16% and 4% of mosaicism was detected by CNV-seq and FISH, respectively. MS-MLPA showed no methylation abnormalities. The fetal ultrasound did not show any detectable abnormalities except for mild intrauterine growth retardation seen at 39 weeks of gestation. After receiving genetic counseling, the expectant mother decided to continue the pregnancy, and follow-up within three months of delivery was normal.

Conclusion
In high-risk NIPT diagnosis, a combination of cytogenetic and molecular genetic techniques proves fruitful in detecting low-level mosaicism. Furthermore, the exclusion of UPD on chromosome 7 remains crucial when NIPT indicates a positive prenatal diagnosis of trisomy 7.
MUC1 promotes cervical squamous cell carcinoma through ERK phosphorylation-mediated regulation of ITGA2/ITGA3
Authors: Zhao Aiqin , Pan Yunzhi , Gao Yingyin , Zhi Zheng , Lu Haiying , Dong Bei , Zhang Xuan , Wu Meiying , Zhu Fenxia , Zhou Sufang , Ma Sai 
Published: May 2024

AbstractIn contrast to the decreasing trends in developed countries, the incidence and mortality rates of cervical squamous cell carcinoma in China have increased significantly. The screening and identification of reliable biomarkers and candidate drug targets for cervical squamous cell carcinoma are urgently needed to improve the survival rate and quality of life of patients. In this study, we demonstrated that the expression of MUC1 was greater in neoplastic tissues than in non-neoplastic tissues of the cervix, and cervical squamous cell carcinoma patients with high MUC1 expression had significantly worse overall survival than did those with low MUC1 expression, indicating its potential for early diagnosis of cervical squamous cell carcinoma. Next, we explored the regulatory mechanism of MUC1 in cervical squamous cell carcinoma. MUC1 could upregulate ITGA2 and ITGA3 expression via ERK phosphorylation, promoting the proliferation and metastasis of cervical cancer cells. Further knockdown of ITGA2 and ITGA3 significantly inhibited the tumorigenesis of cervical cancer cells. Moreover, we designed a combination drug regimen comprising MUC1-siRNA and a novel ERK inhibitor in vivo and found that the combination of these drugs achieved better results in animals with xenografts than did MUC1 alone. Overall, we discovered a novel regulatory pathway, MUC1/ERK/ITGA2/3, in cervical squamous cell carcinoma that may serve as a potential biomarker and therapeutic target in the future.
Advances in personalized radiotherapy
Authors: Manem Venkata SK. , Taghizadeh-Hesary Farzad 
Published: May 2024

AbstractRadiotherapy is a mainstay of cancer treatment. The clinical response to radiotherapy is heterogeneous, from a complete response to early progression. Recent studies have explored the importance of patient characteristics in response to radiotherapy. In this editorial, we invite contributions for a BMC Cancer collection of articles titled ‘Advances in personalized radiotherapy’ towards the improvement of treatment response.
Influencing risk factors of voriconazole-induced liver injury in Uygur pediatric patients undergoing allogeneic hematopoietic stem cell transplantation
Authors: Zhao Ting , Zhang Hui-lan , Shen Hao , Feng Jie , Wang Ting-ting , Li Hong-jian , Yu Lu-hai 
Published: May 2024

Abstract
Purpose
We aimed to investigated the influencing risk factors of voriconazole-induced liver injury in Uygur pediatric patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT).

Methods
This was a prospective cohort design study. High-performance liquid chromatography-mass spectrometry was employed to monitor voriconazole concentration. First-generation sequencing was performed to detect gene polymorphisms. Indicators of liver function were detected at least once before and after voriconazole therapy.

Results
Forty-one patients were included in this study, among which, 15 patients (36.6%) had voriconazole-induced liver injury. The proportion of voriconazole trough concentration > 5.5 μg·mL−1 patients within the DILI group (40.0%) was significantly higher compared to the control group (15.4%) (p < 0.05). After administration of voriconazole, the values of ALT (103.3 ± 80.3 U/L) and AST (79.9 ± 60.6 U/L) in the DILI group were higher than that in the control group (24.3 ± 24.8 and 30.4 ± 8.6 U/L) (p < 0.05). There was no significant difference between the two groups in genotype and allele frequencies of CYP2C19*2, CYP2C19*3, CYP2C19*17, and UGT1A4 (rs2011425) (p > 0.05).

Conclusion
There was a significant correlation between voriconazole-induced liver injury and voriconazole trough concentration in high-risk Uygur pediatric patients with allogeneic HSCT.
Impulse oscillometry in the diagnosis of cough variant asthma in children
Authors: Tian Chunyu , Xiong Shiqiu , Li Shuo , Song Xin , Zhang Yantao , Jiang Xinmei , Hou Xinyue , Zhang Yifan , Liu Chuanhe 
Published: May 2024

Abstract
Background
Cough variant asthma (CVA) is one of the most common causes of chronic cough in children worldwide. The diagnosis of CVA in children remains challenging. This study aimed to assess the diagnostic utility of impulse oscillometry (IOS) pulmonary function in children with CVA.

Methods
This study included children aged 4 to 12 years diagnosed with CVA who underwent IOS pulmonary function and bronchodilation (BD) tests. A control group of healthy children was matched. Pre- and post-BD IOS parameters were recorded and presented as mean ± standard deviation or median. Receiver operating characteristic (ROC) curves were plotted, and the area under the curve (AUC) was calculated to evaluate the discriminatory potential of the IOS parameters for diagnosing CVA.

Results
A total of 180 patients with CVA and 65 control subjects were included. The baseline IOS parameters in the CVA group, except X5%pred, were significantly greater compared to the control group. After inhalation of salbutamol sulfate, all IOS parameters improved significantly in the CVA group. However, Z5%pred, R5%pred, and R20%pred remained greater in the CVA group compared to the control group. The improvement rates of IOS parameters in the CVA group significantly surpassed those in the control group. The ROC curve results for pre-BD IOS parameters and the improvement rate during the BD test showed that the combinations of pre-Z5%pred+△Z5% and pre-R5%pred+△R5% achieved the highest AUC value of 0.920 and 0.898, respectively. The AUC values of these combined parameters surpassed those of individual ones.

Conclusions
This study highlights that children with CVA exhibit greater IOS parameters compared to healthy children. The changes in IOS parameters during the BD test provided valuable diagnostic information for CVA, and the combination of various parameters can help pediatricians accurately identify CVA in children.
Public health framing of firearm violence on local television news in Philadelphia, PA, USA: a quantitative content analysis
Authors: Beard Jessica H. , Trombley Shannon , Walker Tia , Roberts Leah , Partain Laura , MacMillan Jim , Midberry Jennifer 
Published: May 2024

Abstract
Background
Firearm violence is an intensifying public health problem in the United States. News reports shape the way the public and policy makers understand and respond to health threats, including firearm violence. To better understand how firearm violence is communicated to the public, we aimed to determine the extent to which firearm violence is framed as a public health problem on television news and to measure harmful news content as identified by firearm-injured people.

Methods
This is a quantitative content analysis of Philadelphia local television news stories about firearm violence using a database of 7,497 clips. We compiled a stratified sample of clips aired on two randomly selected days/month from January-June 2021 from the database (n = 192 clips). We created a codebook to measure public health frame elements and to assign a harmful content score for each story and then coded the clips. Characteristics of stories containing episodic frames that focus on single shooting events were compared to clips with thematic frames that include broader social context for violence.

Results
Most clips employed episodic frames (79.2%), presented law enforcement officials as primary narrators (50.5%), and included police imagery (79.2%). A total of 433 firearm-injured people were mentioned, with a mean of 2.8 individuals shot included in each story. Most of the firearm-injured people featured in the clips (67.4%) had no personal information presented apart from age and/or gender. The majority of clips (84.4%) contained at least one harmful content element. The mean harmful content score/clip was 2.6. Public health frame elements, including epidemiologic context, root causes, public health narrators and visuals, and solutions were missing from most clips. Thematic stories contained significantly more public health frame elements and less harmful content compared to episodic stories.

Conclusions
Local television news produces limited public health coverage of firearm violence, and harmful content is common. This reporting likely compounds trauma experienced by firearm-injured people and could impede support for effective public health responses to firearm violence. Journalists should work to minimize harmful news content and adopt a public health approach to reporting on firearm violence.
Effects of hand-press pellet on pain and daily life of elders with chronic lower back pain: randomized controlled trial
Authors: Park Hyojung , Lee Hyejin 
Published: May 2024

Abstract
Background
For elderly people with chronic lower back pain who need long-term management, there is a need for a nursing intervention study that is effective, is easy to perform, and applies complementary and alternative therapies to manage pain without repulsion. Hand pressure therapy is a treatment indigenous to Korea used to reduce pain and improve functions of daily life by applying acupuncture, pressure sticks, and moxibustion to parts of the hand as they relate to parts of the body. This research is to identify the effects of pellet pressed on the hand on pain and the daily lives of elders with chronic lower back pain (CLBP).

Methods
The hand pressed-pellet intervention period was six weeks long. Twenty-seven patients in the intervention group and twenty-four patients in the placebo control group were recruited from elderly over sixty-five who used welfare centers. In the intervention group, hand pressed-pellet therapy was conducted in eleven acupressure response zones related to CLBP, and the placebo control group was provided with similar therapy and zones, but unrelated to CLBP. The research tool measured the intensity of CLBP using the Visual Analogue Scale (VAS), the Korean Owestry Disability Index (K-ODI), which are subjective indicators, and the Compact Digital Algometer, which is an objective indicator.

Result
The pain intensity (VAS) measured after six weeks of hand pressed-pellet therapy showed significant difference between the two groups compared to their pain before the experiment (F = 60.522, p < .001). There was a significant difference between the two groups in the pain pressure threshold using pressure statistics (F = 8.940, p < .001), and in CLBP dysfunction evaluation index (K-ODI) after applying pressed pellet to the hand (Z = − 3.540, p < .001).

Conclusion
Subjective indicators were measured to verify the effect of hand pressed-pellet therapy on CLBP, and the result confirmed that the hand pressed-pellet therapy was effective in alleviating CLBP.

Trial registration
The study was registered retrospectively with reference number KCT0008024 on 23/12/2022.
Enhancing academic performance and student engagement in health education: insights from Work Station Learning Activities (WSLA)
Authors: Sánchez Judit , Lesmes Marta , Rubio Margarita , Gal Beatriz , Tutor Antonio S. 
Published: May 2024

AbstractMaking health science students aware of the importance of basic science knowledge for professional practice is a major educational challenge, especially during the early years of preclinical courses. Here, using an integrated curricular approach, we analyze whether Work Station Learning Activities (WSLA), which combine active learning methodologies for teaching basic science in clinical scenarios, can help to develop deeper learning and student engagement. In order to increase student motivation, we evaluated the effectiveness of WSLA using statistical analyses and an observation tool based on the ICAP (Interactive, Constructive, Active, and Passive) framework, which categorizes learning tasks based on the nature of student engagement. Statistical analyses revealed positive correlations between the different summative evaluations along the development of the activities, indicating the learning process inherent to WSLA progression and affirming the positive influence of WSLA on academic outcomes. Comparing the pre- and post-tests, students scored significantly higher on the post-test (statistically significant p < 0.001). WSLA promotes both constructivist and interactive learning, as validated by its alignment with the ICAP model. The study examines student engagement through systematic observation, revealing a relationship between student engagement and final grades. Students who exhibit constructive learning consistently earn higher grades, emphasizing the positive impact of active engagement. Thus, passive behavior profiles show a significant proportion of fails (40%), while constructive profiles stand out as the sole recipients of the coveted excellent rating. Ultimately, this study contributes to our understanding of the effectiveness of WSLA in promoting active learning and enhancing student engagement within integrated health education curricula. It highlights the importance of active learning behaviors for academic success and suggests avenues for further research to optimize integrated teaching methodologies in medical education.
Facing a request for assisted death - views of Finnish physicians, a mixed method study
Authors: Piili Reetta P. , Hökkä Minna , Vänskä Jukka , Tolvanen Elina , Louhiala Pekka , Lehto Juho T. 
Published: May 2024

Abstract
Background
Assisted death, including euthanasia and physician-assisted suicide (PAS), is under debate worldwide, and these practices are adopted in many Western countries. Physicians’ attitudes toward assisted death vary across the globe, but little is known about physicians’ actual reactions when facing a request for assisted death. There is a clear gap in evidence on how physicians act and respond to patients’ requests for assisted death in countries where these actions are not legal.

Methods
A survey including statements concerning euthanasia and PAS and an open question about their actions when facing a request for assisted death was sent to all Finnish physicians. Quantitative data are presented as numbers and percentages. Statistical significance was tested by using the Pearson chi-square test, when appropriate. The qualitative analysis was performed by using an inductive content analysis approach, where categories emerge from the data.

Results
Altogether, 6889 physicians or medical students answered the survey, yielding a response rate of 26%. One-third of participants agreed or partly agreed that they could assist a patient in a suicide. The majority (69%) of the participants fully or partly agreed that euthanasia should only be accepted due to difficult physical symptoms, while 12% fully or partly agreed that life turning into a burden should be an acceptable reason for euthanasia. Of the participants, 16% had faced a request for euthanasia or PAS, and 3033 answers from 2565 respondents were achieved to the open questions concerning their actions regarding the request and ethical aspects of assisted death. In the qualitative analysis, six main categories, including 22 subcategories, were formed regarding the phenomenon of how physicians act when facing this request. The six main categories were as follows: providing an alternative to the request, enabling care and support, ignoring the request, giving a reasoned refusal, complying with the request, and seeing the request as a possibility.

Conclusions
Finnish physicians’ actions regarding the requests for assisted death, and attitudes toward euthanasia and PAS vary substantially. Open discussion, education, and recommendations concerning a request for assisted death and ethics around it are also highly needed in countries where euthanasia and PAS are not legal.
Emergence of NDM-producing Enterobacterales infections in companion animals from Argentina
Authors: de Mendieta Juan Manuel , Argüello Andrea , Menocal María Alejandra , Rapoport Melina , Albornoz Ezequiel , Más Javier , Corso Alejandra , Faccone Diego 
Published: May 2024

AbstractAntimicrobial resistance is considered one of the most critical threat for both human and animal health. Recently, reports of infection or colonization by carbapenemase-producing Enterobacterales in companion animals had been described. This study report the first molecular characterization of NDM-producing Enterobacterales causing infections in companion animals from Argentina. Nineteen out of 3662 Enterobacterales isolates analyzed between October 2021 and July 2022 were resistant to carbapenemes by VITEK2C and disk diffusion method, and suspected to be carbapenemase-producers. Ten isolates were recovered from canine and nine from feline animals. Isolates were identified as K. pneumoniae (n = 9), E. coli (n = 6) and E. cloacae complex (n = 4), and all of them presented positive synergy among EDTA and carbapenems disks, mCIM/eCIM indicative of metallo-carbapenemase production and were also positive by PCR for blaNDM gene. NDM variants were determined by Sanger sequencing method. All 19 isolates were resistant to β-lactams and aminoglycosides but remained susceptible to colistin (100%), tigecycline (95%), fosfomycin (84%), nitrofurantoin (63%), minocycline (58%), chloramphenicol (42%), doxycycline (21%), enrofloxacin (5%), ciprofloxacin (5%) and trimethoprim/sulfamethoxazole (5%). Almost all isolates (17/19) co-harbored blaCTX-M plus blaCMY, one harbored blaCTX-M alone and the remaining blaCMY. E. coli and E. cloacae complex isolates harbored blaCTX-M-1/15 or blaCTX-M-2 groups, while all K. pneumoniae harbored only blaCTX-M-1/15 genes. All E. coli and E. cloacae complex isolates harbored blaNDM-1, while in K. pneumoniae blaNDM-1 (n = 6), blaNDM-5 (n = 2), and blaNDM-1 plus blaNDM-5 (n = 1) were confirmed. MLST analysis revealed the following sequence types by species, K. pneumoniae: ST15 (n = 5), ST273 (n = 2), ST11, and ST29; E. coli: ST162 (n = 3), ST457, ST224, and ST1196; E. cloacae complex: ST171, ST286, ST544 and ST61. To the best of our knowledge, this is the first description of NDM-producing E. cloacae complex isolates recovered from cats. Even though different species and clones were observed, it is remarkable the finding of some major clones among K. pneumoniae and E. coli, as well as the circulation of NDM as the main carbapenemase. Surveillance in companion pets is needed to detect the spread of carbapenem-resistant Enterobacterales and to alert about the dissemination of these pathogens among pets and humans.
Predictors of accessing seasonal malaria chemoprevention medicines through non-door-to-door distribution in Nigeria
Authors: Huang Sikai , Baker Kevin , Ibinaiye Taiwo , Oresanya Olusola , Nnaji Chuks , Richardson Sol 
Published: May 2024

Abstract
Background
In Nigeria, seasonal malaria chemoprevention (SMC) is typically administered door-to-door to children under five by community medicine distributors during high transmission seasons. While door-to-door distribution (DDD) is exclusively employed in Nigeria as part of standard operating procedures of SMC programmes, some households access SMC through non-DDD channels, such as fixed-point distributions, health facilities, and private purchase. However, analysis of access to SMC medicines through non-DDD has been limited, with little evidence of its outcomes on adherence to the three-day complete course of SMC medicines and caregiver actions in the event of adverse reactions to SMC medicines.

Methods
Data were obtained from SMC end-of-round coverage surveys conducted in Nigeria in 2021 and 2022, including 25,278 households for the analysis. The proportion of households accessing SMC medicine through non-DDD and the distribution of various non-DDD sources of SMC medicines were described. Multivariate random-effects logistic regression models were performed to identify predictors of accessing SMC medicines through non-DDD. The associations between non-DDD, and caregiver-reporting of adherence to complete administration of SMC medicines and caregiver actions in the event of adverse reactions to SMC medicines were also assessed.

Results
Less than 2% (314/24003) of households accessed SMC medicines through non-DDD in the states surveyed. Over 60% of non-DDD access was via health facility personnel and community medicine distributors from different locations. Variables associated with non-DDD access included heads of household being born in the local state (OR = 0.68, 95% CI 0.47 to 0.90), households residing in the study state since the first cycle of the SMC round (OR = 0.39, 95% CI 0.17 to 0.88), households with high wealth index (OR = 1.36, 95% CI 1.01 to 1.82), and caregivers hearing about date of SMC delivery in the previous cycle (OR = 0.18, 95%CI 0.14 to 0.24). Furthermore, non-DDD was associated with reduced SMC adherence and higher caregiver non-reporting of adverse reactions to SMC medicines in children compared with DDD.

Conclusion
This study provides evidence on the characteristics of households accessing SMC medicines through non-DDD and its potential negative outcomes on adherence to SMC medicine and adverse reaction reporting, underscoring potential implementation issues that may arise if non-DDD delivery models are adopted in SMC, particularly in places where DDD had been firstly used.