bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Incidence of Multiple Fusions in a Series of Pediatric Soft Tissue and Bone Tumors
Authors: MacKeracher Anastasia , Arnoldo Anthony , Siddaway Robert , Surrey Lea F. , Somers Gino R. 
Published: September 2023

Background: Next generation sequencing (NGS) has increased the detection of fusion genes in cancer. NGS has found multiple fusions in single tumor samples; however, the incidence of this in pediatric soft tissue and bone tumors (PSTBTs) is not well documented. The aim of this study is to catalogue the incidence of multiple fusions in a series of PSTBTs, and apply a modified gene fusion classification system to determine clinical relevance. Methodology: RNA from 78 bone and soft tissue tumors and 7 external quality assessment samples were sequenced and analyzed using recently-described Metafusion (MF) software and classified using a modification of previously-published schema for fusion classification into 3 tiers: 1, strong clinical significance; 2, potential clinical significance; and 3, unknown clinical significance. Results: One-hundred forty-five fusions were detected in 85 samples. Fifty-five samples (65%) had a single fusion and 30 (35%) had more than 1 fusion. No samples contained more than 1 tier 1 fusion. There were 40 tier 1 (28%), 36 tier 2 (24%), and 69 (48%) tier 3 fusions. Conclusions: A significant percentage of PSTBTs harbor more than 1 fusion, and by applying a modified fusion classification scheme, the potential clinical relevance of such fusions can be determined.
Single Umbilical Artery Umbilical Cord Is Associated With High-Grade Distal Fetal Vascular Malperfusion
Authors: Stanek Jerzy 
Published: September 2023

Purpose and Context: Umbilical cord abnormalities with clinical signs of cord compromise are frequently associated with fetal vascular malperfusion (FVM). Single umbilical artery (SUA) has been reported to be associated with high-grade FVM in fetal growth restriction but not in an unselected population; our study aimed to address this issue. Methods: Clinical and placental phenotypes of 55 consecutive placentas with SUA (Group 1) were compared with those of 655 placentas with 3-vessel umbilical cord (Group 2) from patients who were in the second half of their pregnancy. The placentas were histologically examined using hematoxylin and eosin (H&E) staining and CD 34 immunostaining. Key Results: Several umbilical cord phenotypes and high-grade distal FVM, based on H&E staining and endothelial fragmentation by CD34 were significantly more common in Group 1, whereas decidual clusters of multinucleate trophoblasts were more common in Group 2. Notably, H&E staining or CD34 immunostaining evaluated separately showed that high-grade distal FVM was more common in Group 1 than in Group 2, but the difference was not statistically significant. Conclusions: SUA predisposes to remote, advanced, and recent high-grade distal villous FVM, with a pathogenesis partly different from that of stasis-induced FVM, likely related to fetal anomalies associated with SUA.
Use of augmented reality in mental health-related conditions: A systematic review
Authors: Bakır Çiçek Nur , Abbas Sharif Omar , Sever Egemen , Özcan Morey Aslıhan , Aslan Genç Herdem , Mutluer Tuba 
Published: September 2023

Objective Augmented reality (AR) is a relatively new technology that merges virtual and physical environments, augmenting one's perception of reality. AR creates a computer-generated environment that evokes a unique perception of reality, where real and virtual objects are registered with one another, which operates interactively and in real time. Recently, the medical application of AR technology has dramatically increased with other assisted technologies, from training to clinical practice. The ability to manipulate the real environment extensively has given AR interventions an advantage over traditional approaches. In this study, we aim to conduct a systematic review of the use of AR to have a better understanding of how the use of AR may affect patients with mental health-related conditions when combined with gamification. Method This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines by searching Pubmed and Web of Science databases. Results and Conclusion We identified 48 relevant studies that fulfill the criteria. The studies were grouped into four categories: Neurodevelopmental disorders, anxiety and phobia, psychoeducation & well-being, and procedural & pain management. Our results revealed the effectiveness of AR in mental health-related conditions. However, the heterogeneity and small sample sizes demonstrate the need for further research with larger sample sizes and high-quality study designs.
Incidence and location of injuries in Olympic style wrestlers: An analysis by age, sex, weight-class and wrestling style
Authors: Fredrik Borg , Tse Andy Choi-Yeung , Tahir Muhammad Junaid , Talukder Ashis , Lee Ka Yiu 
Published: September 2023

Objectives: This study aimed to examine injuries among Olympic-style wrestlers by analyzing the injury incidence rate and its relationship with age, sex, weight-class and wrestling style. Methods: Olympic-style wrestlers aged 17 years or above competing at national level in Sweden were recruited. Retrospective data about wrestling injuries incurred during year 2019 and 2020 were collected through a web-based questionnaire. Results: A total of 39 wrestlers in Sweden were included, whereof 12 women and 27 men. Sixty-nine percent of the participants sustained at least one injury and the overall injury incidence rate was 4.74 injuries/1000 hours of wrestling training and 551 injuries/1000 licensed athlete years. There were no significant differences in injury incidence rates between wrestling styles, weight-classes, age-categories or sexes, unlike other previous studies. The knee, lumbar spine, neck and shoulder were the most commonly reported injury locations. Conclusion: The injury incidence rate could be region-specific due to different coaching or wrestling styles. It is recommended to provide strength and conditioning training focusing on the muscles around the knees, lumbar spine, neck and shoulders among this group of Olympic-style wrestlers.
Radiographic and Patient-Reported Outcomes of a Low-Cost Modified Lapidus Bunion Correction Technique
Authors: Paranjape Chinmay Shivaram , Zhang Jingru , Lalli Trapper , Lin Feng-Chang , Tennant Joshua N. 
Published: September 2023

Background: The modified Lapidus (ML) is a powerful procedure for correction of hallux valgus (HV) with emerging techniques. Studies considering patient-reported outcomes, radiographic measures, complications, and implant costs are currently limited. Methods: Retrospective cohort with prospectively collected Patient Reported Outcome Information System Physical Function (PROMIS-PF) Computerized Adaptive Test (CAT) scores, radiographic parameters (intermetatarsal angle, IMA; hallux valgus angle, HVA; and tibial sesamoid position, TSP), complications, and total operative time and implant costs were reviewed from 2014 to 2019. Results: Seventy-three feet (68 patients) underwent bunion correction by ML with lag-screw fixation. Median age was 55.8 years (IQR 45.6, 53.9), 4 of 73 (5.5%) were male, 11 of 73 (15.1%) were smokers, and 15 of 73 (20.6%) were diabetic (median HbA1c 6.4% [IQR 6.0, 7.4], none insulin dependent, 5 of 15 with neuropathy). Complications included 6 of 73 (8.2%) wound issues resolved with topical or oral treatment, 9 of 73 (12.3%) painful or broken hardware requiring hardware removal. Two of 73 (2.7%) had persistent pain despite union. One of 73 (1.4%) was overcorrected and required first MTP arthrodesis. Of 3 nonunions (2.7%), 1 resolved with corrected hypothyroidism, 1 was asymptomatic and required no treatment, 1 had a hallux valgus recurrence and sought revision surgery elsewhere. Preoperative radiographic angles were HVA 35 degrees, IMA 14 degrees which improved at final postoperative follow up to HVA 10 degrees, IMA 6 degrees. Tibial sesamoid position improved from 6.05 ± 1.00 to 2.22 ± 1.38. Thirty-two patients had preoperative and 42 had 1-year postoperative outcomes. PROMIS-PF (51% collection rate) was 43 (IQR 37,52) preoperatively, 37 (31, 39) at 6 weeks, 46 (42, 51) at 3 months, and 49 (41, 53) at >360 days postoperatively. The drop in PROMIS-PF between preoperative and 6 weeks and the rise from 6 weeks to 3 months were statistically significant. Pre- and postoperative PROMIS-PF scores were not significantly different. Implant cost averaged US$146. Discussion/Conclusion: We report low complication rates and costs with high patient postoperative functional and radiographic outcomes. PROMIS-PF decreased acutely postoperatively but recovered and maintained high levels by 3 months postoperatively. Level of Evidence: Level IV, case series.
Diagnosis and classification of myelodysplastic syndromes
Authors: Hasserjian Robert P. , Germing Ulrich , Malcovati Luca 
Published: September 2023

Abstract
Myelodysplastic syndromes (MDSs) are neoplastic myeloid proliferations characterized by ineffective hematopoiesis resulting in peripheral blood cytopenias. MDS is distinguished from nonneoplastic clonal myeloid proliferations by the presence of morphologic dysplasia and from acute myeloid leukemia by a blast threshold of 20%. The diagnosis of MDS can be challenging because of the myriad other causes of cytopenias: accurate diagnosis requires the integration of clinical features with bone marrow and peripheral blood morphology, immunophenotyping, and genetic testing. MDS has historically been subdivided into several subtypes by classification schemes, the most recent of which are the International Consensus Classification and World Health Organization Classification (fifth edition), both published in 2022. The aim of MDS classification is to identify entities with shared genetic underpinnings and molecular pathogenesis, and the specific subtype can inform clinical decision-making alongside prognostic risk categorization. The current MDS classification schemes incorporate morphologic features (bone marrow and blood blast percentage, degree of dysplasia, ring sideroblasts, bone marrow fibrosis, and bone marrow hypocellularity) and also recognize 3 entities defined by genetics: isolated del(5q) cytogenetic abnormality, SF3B1 mutation, and TP53 mutation. It is anticipated that with advancing understanding of the genetic basis of MDS pathogenesis, future MDS classification will be based increasingly on genetic classes. Nevertheless, morphologic features in MDS reflect the phenotypic expression of the underlying abnormal genetic pathways and will undoubtedly retain importance to inform prognosis and guide treatment.
Spatial mapping of human hematopoiesis at single-cell resolution reveals aging-associated topographic remodeling
Authors: Sarachakov Aleksandr , Varlamova Arina , Svekolkin Viktor , Polyakova Margarita , Valencia Itzel , Unkenholz Caitlin , Pannellini Tania , Galkin Ilia , Ovcharov Pavel , Tabakov Dmitrii , Postovalova Ekaterina , Shin Nara , Sethi Isha , Bagaev Alexander , Itkin Tomer , Crane Genevieve , Kluk Michael , Geyer Julia , Inghirami Giorgio , Patel Sanjay 
Published: September 2023

Abstract
The spatial anatomy of hematopoiesis in the bone marrow (BM) has been extensively studied in mice and other preclinical models, but technical challenges have precluded a commensurate exploration in humans. Institutional pathology archives contain thousands of paraffinized BM core biopsy tissue specimens, providing a rich resource for studying the intact human BM topography in a variety of physiologic states. Thus, we developed an end-to-end pipeline involving multiparameter whole tissue staining, in situ imaging at single-cell resolution, and artificial intelligence–based digital whole slide image analysis and then applied it to a cohort of disease-free samples to survey alterations in the hematopoietic topography associated with aging. Our data indicate heterogeneity in marrow adipose tissue (MAT) content within each age group and an inverse correlation between MAT content and proportions of early myeloid and erythroid precursors, irrespective of age. We identify consistent endosteal and perivascular positioning of hematopoietic stem and progenitor cells (HSPCs) with medullary localization of more differentiated elements and, importantly, uncover new evidence of aging-associated changes in cellular and vascular morphologies, microarchitectural alterations suggestive of foci with increased lymphocytes, and diminution of a potentially active megakaryocytic niche. Overall, our findings suggest that there is topographic remodeling of human hematopoiesis associated with aging. More generally, we demonstrate the potential to deeply unravel the spatial biology of normal and pathologic human BM states using intact archival tissue specimens.
Assessing sugar intake rapidly – a short form of the Marburg Sugar Index (MSI)
Authors: Margraf-Stiksrud Jutta , Pieper Klaus , Deinzer Renate 
Published: September 2023

Abstract
Background
Sugar intake is a major nutritional factor in the development of dental caries. To further clarify its contribution to oral health-related diseases, population-based investigations are recommended. To facilitate economic and reliable assessment of sugar intake, a short form of the approved Marburg Sugar Index (MSI) was developed.

Methods
According to the principles of item reduction based on original data, a six-item-short form was constructed. A total of 468 participants (aged 15–81) answered the short form together with the long form in a counterbalanced cross-over design, and with two questionnaires concerning self-efficacy and decisional balance in oral health to verify construct validity.

Results
Comparable item characteristics to the original MSI and a high correlation with the long form prove the usefulness of the short form, which was processed by the participants in less than one minute. Low correlations to the other two constructs show discriminant validity.

Conclusion
The new short form of the MSI (MSI-S) can replace the long form, especially in population-based studies with no restrictions on assessment quality but with sufficient time saved to add other variables necessary to explore oral health-related issues.
Temporal trends and outcomes of heart transplantation in Spain (2002–2021): propensity score matching analysis to compare patients with and without type 2 diabetes
Authors: Lopez-de-Andres Ana , Jiménez-García Rodrigo , Hernández-Barrera Valentin , Carabantes-Alarcon David , Zamorano-Leon Jose J. , Palanco Ricardo Omaña , del-Barrio Jose L. , de-Miguel-Díez Javier , de-Miguel-Yanes Jose M. , Cuadrado-Corrales Natividad 
Published: September 2023

Abstract
Background
The impact of Type 2 Diabetes (T2D) on the outcomes of heart transplantation (HT) has not yet been clearly established. The objectives of this study were to examine the trends in the prevalence of T2D among individuals who underwent a HT in Spain from 2002 to 2021, and to compare the clinical characteristics and hospitalization outcomes between HT recipients with and without T2D.

Methods
We used the national hospital discharge database to select HT recipients aged 35 and older. The International Classification of Diseases, Ninth and Tenth Revisions (ICD-9 and ICD-10) were used to identify patients with and without T2D. We also recorded comorbidities, complications of HT, and procedures. Propensity score matching (PSM) and Cox regression were used to analyze the effect of T2D on in-hospital mortality (IHM).

Results
Between 2002 and 2021, a total of 4429 HTs (T2D, 19.14%) were performed in Spain. The number of HTs in patients with T2D decreased from 2002 to 2005 (n = 171) to 2014–2017 (n = 154), then rose during 2018–2021 (n = 186). Complications of HT increased in patients with and without T2D over the study period (26.9% and 31.31% in 2002–2005 vs. 42.47% and 45.01% in 2018–2021, respectively). The results of the PSM showed that pneumonia and Gram-negative bacterial infections were less frequent in patients with T2D and that these patients less frequently required hemodialysis, extracorporeal membrane oxygenation (ECMO), and tracheostomy. They also had a shorter hospital stay and lower IHM than patients without diabetes. The variables associated with IHM in patients with T2D were hemodialysis and ECMO. IHM decreased over time in people with and without T2D. The Cox regression analysis showed that T2D was associated with lower IHM (HR 0.77; 95% CI 0.63–0.98).

Conclusions
The number of HTs increased in the period 2018–2021 compared with 2002–2005 in patients with and without T2D. Over time, complications of HT increased in both groups studied, whereas IHM decreased. The presence of T2D is associated with lower IHM.
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
Authors: van Zutven Laura J. C. M. , Mijalkovic Jona , van Veghel-Plandsoen Monique , Goense Margaret , Polak Marike , Knapen Maarten F. C. M. , de Weerd Sabina , Joosten Marieke , Diderich Karin E. M. , Hoefsloot Lies H. , Van Opstal Diane , Srebniak Malgorzata I. 
Published: September 2023

Abstract
Background
Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal testing (NIPT) in case of recurrent pregnancy loss could be a more efficient way to identify couples at increased risk for carrying a balanced chromosome rearrangement. The aim of this study was to evaluate whether the potential fetal imbalances caused by parental balanced aberrations detected in our center are large enough to be detectable by genome-wide non-invasive prenatal testing (NIPT).

Material and methods
From January 1970 until May 2020 our laboratory received 30,863 unique requests for karyotyping due to RPL. We have identified 16,045 couples and evaluated all abnormal cytogenetic results to assess the minimal size of the involved chromosomal segments in potential unbalanced products of the rearrangements.

Results
In the presented cohort we detected 277 aberrant balanced translocations/inversions in females and 185 in males amongst 16,045 couples with RPL, which can be translated to a risk of 1:35 (2.9%, 95% CI 2.6–3.2%). Our study showed that the vast majority (98.7%, 95% CI 97.1–99.5%) of these balanced aberrations will potentially cause a fetal imbalance > 10 Mb, which is detectable with genome-wide NIPT if it was performed during one of the miscarriages.

Conclusions
Our study suggests that genome-wide NIPT is able to reveal most unbalanced products of balanced chromosomal rearrangements carried by couples with RPL and therefore can potentially identify balanced chromosomal aberration carriers. Moreover, our data suggest that these couples can be offered NIPT in case they decline invasive testing in future pregnancies.
Group comparisons of the individual electroretinogram time trajectories for the ascending limb of the b-wave using a raw and registered time series
Authors: Brabec Marek , Constable Paul A. , Thompson Dorothy A. , Marmolejo-Ramos Fernando 
Published: September 2023

AbstractObjectivesThe electroretinogram is a clinical test commonly used in the diagnosis of retinal disorders with the peak time and amplitude of the a- and b-waves used as the main indicators of retinal function. However, subtle changes that affect the shape of the electroretinogram waveform may occur in the early stages of disease or in conditions that have a neurodevelopmental or neurodegenerative origin. In such cases, we introduce a statistical approach to mathematically model the shape of the electroretinogram waveform that may aid clinicians and researchers using the electroretinogram or other biological signal recordings to identify morphological features in the waveforms that may not be captured by the time or time–frequency domains of the waveforms. We present a statistical graphics-based analysis of the ascending limb of the b-wave (AL-b) of the electroretinogram in children with and without a diagnosis of autism spectrum disorder (ASD) with a narrative explanation of the statistical approach to illustrate how different features of the waveform based on location and scale derived from raw and registered time series can reveal subtle differences between the groups.ResultsAnalysis of the raw time trajectories confirmed findings of previous studies with a reduced and delayed b-wave amplitude in ASD. However, when the individual time trajectories were registered then group differences were visible in the mean amplitude at registered time ~ 0.6 suggesting a novel method to differentiate groups using registration of the ERG waveform.
Correlation between synthetic MRI relaxometry and apparent diffusion coefficient in breast cancer subtypes with different neoadjuvant therapy response
Authors: Jiang Wenhong , Du Siyao , Gao Si , Xie Lizhi , Xie Zichuan , Wang Mengfan , Peng Can , Shi Jing , Zhang Lina 
Published: September 2023

Abstract
Background
To evaluate the correlation between synthetic MRI (syMRI) relaxometry and apparent diffusion coefficient (ADC) maps in different breast cancer subtypes and treatment response subgroups.

Methods
Two hundred sixty-three neoadjuvant therapy (NAT)-treated breast cancer patients with baseline MRI were enrolled. Tumor annotations were obtained by drawing regions of interest (ROIs) along the lesion on T1/T2/PD and ADC maps respectively. Histogram features from T1/T2/PD and ADC maps were respectively calculated, and the correlation between each pair of identical features was analyzed. Meanwhile, features between different NAT treatment response groups were compared, and their discriminatory power was evaluated.

Results
Among all patients, 20 out of 27 pairs of features weakly correlated (r = – 0.13–0.30). For triple-negative breast cancer (TNBC), features from PD map in the pathological complete response (pCR) group (r = 0.60–0.86) showed higher correlation with ADC than that of the non-pCR group (r = 0.30–0.43), and the mean from the ADC and PD maps in the pCR group strongly correlated (r = 0.86). For HER2-positive, few correlations were found both in the pCR and non-pCR groups. For luminal HER2-negative, T2 map correlated more with ADC than T1 and PD maps. Significant differences were seen in T2 low percentiles and median in the luminal-HER2 negative subtype, yielding moderate AUCs (0.68/0.72/0.71).

Conclusions
The relationship between ADC and PD maps in TNBC may indicate different NAT responses. The no-to-weak correlation between the ADC and syMRI suggests their complementary roles in tumor microenvironment evaluation.

Critical relevance statement
The relationship between ADC and PD maps in TNBC may indicate different NAT responses, and the no-to-weak correlation between the ADC and syMRI suggests their complementary roles in tumor microenvironment evaluation.

Key points
• The relationship between ADC and PD in TNBC indicates different NAT responses.
• The no-to-weak correlations between ADC and syMRI complementarily evaluate tumor microenvironment.
• T2 low percentiles and median predict NAT response in luminal-HER2-negative subtype.

Graphical Abstract