bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report
Authors: Zhang Tiansong , Huang Xiaoqiang , Liu Wenjie , Ling Xiulan , Su Zhenping , Huang Mengwei , Che Shuanlong 
Published: January 2024

Abstract
Background
Multiple primary malignancies are rare in cancer patients, and risk factors may include genetics, viral infection, smoking, radiation, and other environmental factors. Lynch syndrome (LS) is the most prevalent form of hereditary predisposition to double primary colorectal and endometrial cancer in females. LS, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a common autosomal dominant condition. Pathogenic germline variants in the DNA mismatch repair (MMR) genes, namely MLH1, MSH2, MSH6, and PMS2, and less frequently, deletions in the 3’ end of EPCAM cause LS. It manifested itself as loss of MMR nuclear tumor staining (MMR protein deficient, dMMR).

Case presentation
This case study describes a double primary carcinoma in a 49-year-old female. In June 2022, the patient was diagnosed with highly to moderately differentiated endometrioid adenocarcinoma. The patient’s mother died of esophageal cancer at age 50, and the father died of undefined reasons at age 70. Immunohistochemical stainings found ER (++), PR (++), P53 (+), MSH2 (-), MSH6 (+), MLH1 (+), and PMS2 (+). MMR gene sequencing was performed on endometrial tumor and peripheral blood samples from this patient. The patient carried two pathogenic somatic mutations in the endometrial tumor, MSH6 c.3261dupC (p.Phe1088LeufsTer5) and MSH2 c.445_448dup (p.Val150fs), in addition to a rare germline mutation MSH6 c.133G > C (p.Gly45Arg). Two years ago, the patient was diagnosed with moderately differentiated adenocarcinoma in the left-half colon. Immunohistochemical stainings found MSH2(-), MSH6(+), MLH1(+), and PMS2(+) (data not shown).

Conclusions
In the case of a patient with double primary EC and CRC, a careful evaluation of the IHC and the genetic data was presented. The patient carried rare compound heterozygous variants, a germline missense mutation, and a somatic frameshift mutation of MSH6, combined with a novel somatic null variant of MSH2. Our study broadened the variant spectrum of double primary cancer and provided insight into the molecular basis for abnormal MSH2 protein loss and double primary carcinoma.
Multifaceted surgical approach of combined thoracoretroperitoneal incision and midline abdominal incision for a secondary aortoenteric fistula
Authors: Minami Tomoyuki , Kojima Takahiro , Yabu Naoto , Yamazaki Ichiya , Saito Aya 
Published: January 2024

Abstract
Background
We report a one-stage surgery to the case of secondary aortoenteric fistula (sAEF) after prosthetic reconstruction of abdominal aortic aneurysm, by multifaceted approach.

Case presentation
A 63-year-old male was admitted to our unit under diagnosed of sAEF after prosthetic reconstruction of abdominal aortic aneurysm, and a pseudoaneurysm of thoracoabdominal aorta due to infection. The patient underwent emergency operation. Firstly, we placed the patient in a modified right lateral decubitus position and performed thoracoabdominal aortic replacement with retroperitoneal approach by thoracoretroperitoneal incision which combined thoracotomy and pararectal incision, and secondly, we changed to a supine position and performed closure of the duodenal fistula and omental flap transposition by midline abdominal incision. The patient was doing well without complications.

Conclusions
A one-stage, multifaceted surgical approach covering both prosthetic reconstruction of thoracoabdominal aorta and closure of sAEF with omentopexy is reasonable and useful strategy.
Short and mid-term outcomes of valve-sparing, aortic root reimplantation (David’s procedure)
Authors: Salehi Omran Abbas , Aeen Ali , Nayebirad Sepehr , Vakili-Basir Ahmad , Najafi Mohammad Sadeq , Mohseni-Badalabadi Reza , Shirani Shapour , Zoroufian Arezou , Jalali Arash , Mostafanejad Fatemeh Alsadat , Sahebjam Mohammad 
Published: January 2024

Abstract
Background
In the current study, we aimed to report the short- and mid-term outcomes of patients undergoing valve-sparing aortic root reimplantation (VSARR) and our center’s experience with the procedure.

Methods
Forty patients with aortic root aneurysms underwent VSARR at our center from 2010 until 2022. We retrospectively reviewed the medical records of these patients and extracted the relevant data. After carefully examining the aortic valve, the surgeon decided to perform Bentall or David’s procedure during the operation.

Results
The study population comprised 31 (77.5%) men and nine (22.5%) women, with a mean age of 55.35 ± 15.40. One patient developed hemodynamic instability post-surgery in the hospital and died from multi-organ failure. Another patient had severe AI in the intraoperative echocardiography, and aortic valve replacement with a prosthetic graft was performed during the same operation. In pre-operation echocardiography, 25 (62.5%) patients had severe, nine (22.5%) had moderate, and six (15%) had mild AI. In the in-hospital post-operation follow-up echo, AI was improved, and no patients had severe AI (P < 0.001). Only eight patients had moderate AI in post-one-year follow-up echo exams, while the rest had mild AI.

Conclusion
David’s procedure showed excellent mid-term results in our center, with only one in-hospital mortality.
An elevated urinary albumin-to-creatinine ratio increases the risk of incident cardia-cerebrovascular disease in individuals with type 2 diabetes
Authors: Tao Jie , Sang Dasen , Zhang Xinxin , Liu Xin , Wang Guodong , Chen Shuohua , Wu Shouling , Geng Wei 
Published: January 2024

Abstract
Aims
We aimed to explore the associations between urine albumin-to-creatinine ratio (uACR) and cardia-cerebrovascular disease (CVD) in Chinese population with type 2 diabetes(T2D).

Methods
We included 8975 participants with T2D but free of prevalent CVD (including myocardial infarction, ischemic and hemorrhagic stroke) at baseline from Kailuan study who were assessed with uACR between 2014 and 2016. The participants were divided into three groups based on their baseline uACR: normal (< 3 mg/mmol), microalbuminuria (3–30 mg/mmol), and macroalbuminuria (≥ 30 mg/mmol). Cox regression models and restricted cubic spline were used to evaluate the hazard ratios (HRs) and 95% confidence intervals (CIs) of incident CVD. The area under the receiver operating characteristic curve (AUC), net reclassification improvement (NRI), and integrated discrimination improvement (IDI) were used to see if incorporating uACR into existing models could improve performance.

Results
During a median follow-up of 4.05 years, 560 participants developed first CVD event (6.24%). After adjustment for potential confounders, participants with microalbuminuria had higher risks of CVD compared with normal uACR, with HRs of 1.57(95% CI 1.04–2.37) for myocardial infarction, 1.24(95% CI 1.00–1.54) for ischemic stroke,1.62(95% CI 0.73–3.61) for hemorrhagic stroke, and 1.30(95% CI 1.07–1.57) for total CVD. The risks gradually attenuated with uACR increase, with HRs of 2.86(95% CI 1.63–5.00) for myocardial infarction, 2.46(95% CI 1.83–3.30) for ischemic stroke, 4.69(95% CI 1.72–12.78) for hemorrhagic stroke, and 2.42(95% CI 1.85–3.15) for total CVD in macroalbuminuria. The addition of uACR to established CVD risk models improved the CVD risk prediction efficacy.

Conclusions
Increasing uACR, even below the normal range, is an independent risk factor for new-onset CVD in T2D population. Furthermore, uACR could improve the risk prediction for CVD among community based T2D patients.
When sequential use of mepolizumab and dupilumab in a severe atopic eosinophilic asthmatic questions the role of eosinophils in mediating the clinical expression of the disease: a case report
Authors: Sabbe M. , Schleich F. , Janssens P. , Louis R. 
Published: January 2024

Abstract
Background
The advent of biologics has resulted in major progress in the treatment of severe T2 high asthmatics. There are currently several classes of biologics approved for severe asthma including anti-immunoglobulin E, anti-interleukin-5/interleukin 5R, anti-interleukin 4/interleukin 13R, and anti-thymic stromal lymphopoietin.

Case presentations
Here we report the case of a 55-year-old Caucasian man with severe eosinophilic atopic asthma, who sequentially benefited from a treatment with mepolizumab, an anti-interleukin-5 monoclonal antibody, followed by treatment with dupilumab, an anti-interleukin-4/interleukin-13R antibody, the switch being justified by a flare-up of dermatitis while on mepolizumab. Overall, the patient has been followed for 72 months, including 42 months on mepolizumab and 30 months on dupilumab. Close monitoring of exacerbations, asthma control, lung function, asthma quality of life, and biomarkers shows that both biologics reduced asthma exacerbation and provided an improvement in asthma control and quality of life, with the patient achieving remission after 30 months on dupilumab. However, the effects of the two biologics on the biomarkers were very different, with mepolizumab controlling eosinophilic inflammation and dupilumab reducing serum immunoglobulin E and fractional exhaled nitric oxide levels.

Conclusion
The originality of this case resides in the description of clinical status and biomarker evolution after a sequential use of mepolizumab and dupilumab in a severe atopic eosinophilic asthmatic. It shows that mepolizumab reduces exacerbation and improves asthma control by curbing eosinophilic inflammation whereas dupilumab provides asthma remission without controlling airway eosinophilic inflammation.
Visceral leishmaniasis misdiagnosed as an upper respiratory infection and iron-deficiency anemia in a 20-month-old male patient: a case report
Authors: Chakhunashvili Davit G. , Chakhunashvili Konstantine , Kvirkvelia Eka 
Published: January 2024

Abstract
Background
Visceral Leishmaniasis should be suspected in every patient with a history of splenomegaly, fever, and pancytopenia. It is one of the most dangerous forms of infection and prompt recognition is the key to positive outcome.

Case presentation
A 20-month-old Caucasian male patient was brought to our hospital as an outpatient with the complaint of persistent fever, which did not improve with empiric antibiotic treatment (> 96 hour after the initial dose). The antibiotic treatment had been prescribed by primary care physician at polyclinic, who also referred the patient to hematologist due to anemia, who prescribed iron supplement. Despite multiple subspecialist visits, bicytopenia was, unfortunately, left unidentified. Upon physical examination no specific signs were detected, however, spleen seemed slightly enlarged. Patient was admitted to the hospital for further work-up, management and evaluation. Abdominal ultrasound, complete blood count and c-reactive protein had been ordered. Hematologist and infectionist were involved, both advised to run serology for Epstein-Barr Virus and Visceral Leishmaniasis. The latter was positive; therefore, patient was transferred to the specialized clinic for specific management.

Conclusion
Both in endemic and non-endemic areas the awareness about VL should be increased among the medical professionals. We also recommend that our colleagues take the same approach when dealing with bicytopenia and fever, just as with pancytopenia and fever. The medical community should make sure that none of the cases of fever and pancytopenia are overlooked, especially if we have hepatomegaly and/or splenomegaly.
Capsular gene distribution and RAPD typing of Streptococcus agalactiae isolated from pregnant women
Authors: Zakerifar Mona , Goli Hamid Reza , Kaboosi Hami , Rahmani Zahra , Peyravii Ghadikolaii Fatemeh 
Published: January 2024

AbstractStreptococcus agalactiae has different virulence factors, from which the capsule has the most significant role in the pathogenesis of this organism. We aimed to investigate the distribution of more prevalent capsular genes among different Random Amplified Polymorphic DNA (RAPD) types of S. agalactiae isolated from pregnant women. A total of 106 isolates were collected from 420 vaginal and rectal swabs obtained from pregnant women. The specimens were transferred using Todd Hewitt Broth and were cultured on a blood agar containing antibiotics. The S. agalactiae isolates were identified by the standard microbiological and biochemical tests. The genomic DNAs of S. agalactiae isolates were extracted using an extraction kit. Then, the PCR method was used to detection of the capsular genes. Moreover, The RAPD PCR was used to genotyping of the isolates. The colonization rate of the pregnant women was 25.23%, and there was a statistically significant correlation between the weeks of gestation and the probability of colonization (p-value < 0.05). Also, 31 (29.24%) and 18 (16.98%) pregnant women had a history of abortion and membrane rupture, respectively. In addition, 20 (18.86%), 32 (30.18%), 4 (3.77%), and 6 (5.66%) isolates carried genes encoding capsular types Ia, Ib, III, and V, respectively. None isolates had the type II capsular gene, and other 44 isolates were non-typeable. Nine clones (clusters) of S. agalactiae were observed in the present study with 70% similarity, and 53 different types were identified among the isolates. Except for capsular types III and V that belonged to clones 3, 5, 7, and 9, other capsular types were detected in different RAPD types. We found that the capsular types Ib and Ia were predominant among pregnant women in this area, indicating their significance for vaccine designation. Also, our isolates showed a lower genotypic diversity in RAPD typing. This may be due to the same sources of most isolates.
A Bayesian workflow for the analysis and reporting of international large-scale assessments: a case study using the OECD teaching and learning international survey
Authors: Kaplan David , Harra Kjorte 
Published: January 2024

AbstractThis paper aims to showcase the value of implementing a Bayesian framework to analyze and report results from international large-scale assessments and provide guidance to users who want to analyse ILSA data using this approach. The motivation for this paper stems from the recognition that Bayesian statistical inference is fast becoming a popular methodological framework for the analysis of educational data generally, and large-scale assessments more specifically. The paper argues that Bayesian statistical methods can provide a more nuanced analysis of results of policy relevance compared to standard frequentist approaches commonly found in large-scale assessment reports. The data utilized for this paper comes from the Teaching and Learning International Survey (TALIS). The paper provides steps in implementing a Bayesian analysis and proposes a workflow that can be applied not only to TALIS but to large-scale assessments in general. The paper closes with a discussion of other Bayesian approaches to international large-scale assessment data, in particularly for predictive modeling.
Time-dependent modeling of slow-slip events along the Nankai Trough subduction zone, Japan, within the 2018–2023 period
Authors: Ozawa Shinzaburo , Muneakane Hiroshi , Suito Hisashi 
Published: January 2024

AbstractAccording to a 2013 report by the Earthquake Research Committee of Japan, it was estimated that the probability of the occurrence of the next Nankai earthquake within the next three decades is 70–80%. Therefore, to realize hazard estimation, it is crucial to estimate the state of the plate interface in the Nankai Trough subduction zone. In this study, we focused on a transient from 2018 in the subduction zone of the Nankai Trough, southwest Japan, detected by the Global Navigation Satellite System (GNSS) network. Thereafter, we estimated the spatiotemporal evolution of the slip at the plate interface by subjecting the GNSS position time series to time-dependent inversion. The results obtained showed that a long-term slow-slip event (l-SSE) possibly occurred on the Kii Peninsula in 2020. The Kii-Channel l-SSE (Mw 6.3), with an irregular recurrence interval, was observed from 2019 to 2022. Additionally, the Central Shikoku l-SSE (Mw 6.5) was observed from 2019 to 2023, and there appeared to be a correlation between the Central Shikoku l-SSE and the northwestern Shikoku short-term slow-slip event (s-SSE). l-SSE occurred from July 2018 to August 2019 in the northern Hyuga-nada and Bungo channel, and in late 2018, another l-SSE occurred in southern Hyuga-nada before the May 2019 Hyuga-nada earthquake. Further, after the 2018–2019 events, the southern Hyuga-nada l-SSE occurred from mid-2020 to early 2021 and in January 2023 and is still ongoing, consistent with the expected recurrence interval. The seemingly transient slip off the Ohsumi Peninsula, detected after the Mw 5.7 earthquake of October 2022, continued until July 2023 with Mw 6.1. Furthermore, after the 2019 Tanegashima earthquake, an l-SSE occurred for approximately 4 years. The moment magnitude (Mw) of the afterslip of the Tanegashima earthquake was estimated to be 6.7, larger than that of the main shock (Mw 6.4). We also noted that the transient slip off Tanegashima included four possible s-SSEs that occurred in 2020, 2021, 2022, and 2023. Therefore, the sporadic aseismic slips along the Nankai Trough changed the stress state of the areas neighboring the aseismic slip zones in favor of the interplate slip.
Graphical Abstract
Validation of a discovery MI 4-ring model according to the NEMA NU 2-2018 standards: from Monte Carlo simulations to clinical-like reconstructions
Authors: Merlet Antoine , Presles Benoît , Su Kuan-Hao , Salvadori Julien , Sayah Farzam , Jozi Hanieh , Cochet Alexandre , Vrigneaud Jean-Marc 
Published: January 2024

Abstract
Background
We propose a comprehensive evaluation of a Discovery MI 4-ring (DMI) model, using a Monte Carlo simulator (GATE) and a clinical reconstruction software package (PET toolbox). The following performance characteristics were compared with actual measurements according to NEMA NU 2-2018 guidelines: system sensitivity, count losses and scatter fraction (SF), coincidence time resolution (CTR), spatial resolution (SR), and image quality (IQ). For SR and IQ tests, reconstruction of time-of-flight (TOF) simulated data was performed using the manufacturer’s reconstruction software.

Results
Simulated prompt, random, true, scatter and noise equivalent count rates closely matched the experimental rates with maximum relative differences of 1.6%, 5.3%, 7.8%, 6.6%, and 16.5%, respectively, in a clinical range of less than 10 kBq/mL. A 3.6% maximum relative difference was found between experimental and simulated sensitivities. The simulated spatial resolution was better than the experimental one. Simulated image quality metrics were relatively close to the experimental results.

Conclusions
The current model is able to reproduce the behaviour of the DMI count rates in the clinical range and generate clinical-like images with a reasonable match in terms of contrast and noise.
Heterotopic pregnancy after a single embryo transfer with successful perinatal outcome: case report and literature review
Authors: Chen Wanqi , Qi Jingyi 
Published: January 2024

AbstractA heterotopic pregnancy is a rare and serious pathological pregnancy. In this paper, we report a rare case of heterotopic pregnancy and perform a literature review. A 30-year-old patient with a history of left adnexectomy presented with persistent lower abdominal pain and hemorrhagic shock after single embryo transfer. Emergency laparoscopic exploration revealed a ruptured mass in the right isthmus of the fallopian tube, for which right salpingectomy was performed. After anti-inflammatory treatment and fetal preservation, the intrauterine pregnancy progressed smoothly, and a healthy baby was delivered at 39 weeks gestation. In this case, the patient’s heterotopic pregnancy was possibly due to a natural pregnancy caused by sexual intercourse during treatment, so we recommend that sexual intercourse be avoided during transfer cycles.
Four year evaluation of a parent advisory group to support a research program for knowledge translation in child health
Authors: Hartling Lisa , Elliott Sarah A. , Mabbott Annie , Leung Julie , Shearer Kathleen , Smith Chrissy , Scott Shannon D. 
Published: January 2024

Abstract
Background
In 2016, we developed a pediatric parent advisory group to inform our research program which creates innovative knowledge translation (KT) tools for parents on priority topics related to acute childhood illness. We implemented a mixed methods strategy to evaluate the experiences of group members. The purpose of this paper is to present the findings from parent evaluations over four years and to discuss our experiences collaborating with the group over a multi-year period.

Methods
We conducted year-end surveys and interviews of group members to understand parents’ perceptions of their experiences, group management, researcher interaction, and other outcomes of advisory group participation from 2018 to 2021. We applied a mixed methods approach, collecting and analyzing both quantitative (survey) and qualitative (survey/interview) data. Survey data were analyzed by term using descriptive statistics (i.e., frequencies, percentages). Open-ended survey responses were analyzed by conventional content analysis. Interview data were analysed thematically.

Results
Year-end survey response rates and interview participation varied over the years. Responses to evaluation questions were generally positive and most improved over time. Results prompted changes to improve P-PAG operations, such as changes to location of meetings, communications about the group’s purpose, offering sufficient context for discussion items, and providing feedback about how members’ input was used. Themes identified from the qualitative data related to the importance of certain aspects of group functioning, positive views of the group’s current management, and potential areas for improvement. Parents regularly expressed a desire for more diversity in the group’s membership and an interest in hearing more about how the research program’s activities fit into the broader healthcare system and their impacts on health outcomes.

Conclusions
Our experience in establishing, managing, and evaluating a parent advisory group over many years has resulted in valuable insights regarding patient engagement in health research and sustaining an advisory group over time. We have learned that an intentional and iterative approach with regular evaluations and responsive changes has been essential for fostering meaningful engagement. Significant resources are required to maintain the group; in turn, the group has made substantial and diverse contributions to the research program and its outputs.