bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
Authors: de Feraudy Yvan , Vandroux Marie , Romero Norma Beatriz , Schneider Raphaël , Saker Safaa , Boland Anne , Deleuze Jean-François , Biancalana Valérie , Böhm Johann , Laporte Jocelyn 
Published: July 2024

Abstract
Background
Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management. Our objective was to find novel pathogenic variants and genes associated with congenital myopathies and to decrease diagnostic odysseys and dead-end.

Methods
To identify pathogenic variants and genes implicated in congenital myopathies, we established and conducted the MYOCAPTURE project from 2009 to 2018 to perform exome sequencing in a large cohort of 310 families partially excluded for the main known genes.

Results
Pathogenic variants were identified in 156 families (50%), among which 123 families (40%) had a conclusive diagnosis. Only 44 (36%) of the resolved cases were linked to a known myopathy gene with the corresponding phenotype, while 55 (44%) were linked to pathogenic variants in a known myopathy gene with atypical signs, highlighting that most genetic diagnosis could not be anticipated based on clinical–histological assessments in this cohort. An important phenotypic and genetic heterogeneity was observed for the different genes and for the different congenital myopathy subtypes, respectively. In addition, we identified 14 new myopathy genes not previously associated with muscle diseases (20% of all diagnosed cases) that we previously reported in the literature, revealing novel pathomechanisms and potential therapeutic targets.

Conclusions
Overall, this approach illustrates the importance of massive parallel gene sequencing as a comprehensive tool for establishing a molecular diagnosis for families with congenital myopathies. It also emphasizes the contribution of clinical data, histological findings on muscle biopsies, and the availability of DNA samples from additional family members to the diagnostic success rate. This study facilitated and accelerated the genetic diagnosis of congenital myopathies, improved health care for several patients, and opened novel perspectives for either repurposing of existing molecules or the development of novel treatments.
Applications of extraembryonic tissue-derived cells in vascular tissue regeneration
Authors: Goushki Mehdi Amiri , Kharat Zahra , Kehtari Mousa , Sohi Alireza Naderi , Ahvaz Hana Hanaee , Rad Iman , HosseinZadeh Simzar , Kouhkan Fatemeh , Kabiri Mahboubeh 
Published: July 2024

AbstractVascular tissue engineering is a promising approach for regenerating damaged blood vessels and developing new therapeutic approaches for heart disease treatment. To date, different sources of cells have been recognized that offer assistance within the recovery of heart supply routes and veins with distinctive capacities and are compelling for heart regeneration. However, some challenges still remain that need to be overcome to establish the full potential application of these cells. In this paper, we review the different cell sources used for vascular tissue engineering, focusing on extraembryonic tissue-derived cells (ESCs), and elucidate their roles in cardiovascular disease. In addition, we highlight the intricate interplay between mechanical and biochemical factors in regulating mesenchymal stem cell (MSC) differentiation, offering insights into optimizing their application in vascular tissues.
Performance comparison of quantum-safe multivariate polynomial public key encapsulation algorithm
Authors: Kuang Randy , Perepechaenko Maria , Toth Ryan , Barbeau Michel 
Published: July 2024

AbstractA novel quantum-safe key encapsulation algorithm, called Multivariate Polynomial Public Key (MPPK), was recently proposed by Kuang, Perepechaenko, and Barbeau. Security of the MPPK key encapsulation mechanism does not rely on the prime factorization or discrete logarithm problems. It builds upon the NP-completeness of the modular Diophantine equation problem, for which there are no known efficient classical or quantum algorithms. Hence, it is resistant to known quantum computing attacks. The private key of MPPK comprises a pair of multivariate polynomials. In a companion paper, we analyzed the performance of MPPK when these polynomials are quadratic. The analysis highlighted the MPPK high decapsulation time. We found that, while maintaining the security strength, the polynomials can be linear. Considerable performance gains are obtained for the decapsulation process. In this article, we benchmark the linear case and compare the results with the previous quadratic case.
Adaptive pulse shaping for OFDM RadCom systems in highly dynamic scenarios
Authors: He Haonan , Liang Tianhao , Zhang Tingting 
Published: July 2024

AbstractDue to the spectrum and complexity efficiency, the integrated radar and communications (RadCom) systems have been widely favored, in which orthogonal frequency division multiplexing (OFDM) is the most popular signal to conduct the two functions simultaneously. However, an unoptimized pulse could suffer from severe inter-carrier interference (ICI) and high out-of-band emission (OOBE), which greatly degrades the system performance. In this paper, we introduce the pulse shaping scheme dedicated to RadCom systems, in which both transmitter and receiver can adaptively design pulses with the assistance of radar estimation. We first optimize the transmitting pulse with the weighted sum of signal-to-interference-plus-noise ratio (SINR) and OOBE by employing the popular genetic algorithm. Then, we design an improved-matched pulse at the receiver for maximizing the SINR with the fmincon solver. In this way, they both utilize the readily available radar information and keep the pulse optimal even in highly dynamic scenarios, which makes the most of RadCom systems while avoiding the overhead of channel estimation and feedback. Simulations prove the feasibility of proposed scheme and reveal that the radar image and communications SINR stay close to their optimum in most cases with much lower OOBE. An improved-matched pulse can further improve the communications performance when severe ICI occurs compared with a matched pulse.
Teacher support, grit and L2 willingness to communicate: the mediating effect of foreign language enjoyment
Authors: Yang Yanyu , Cui Yongze , Yao Suhua 
Published: July 2024

AbstractInformed by some relevant theories of positive psychology, the current study examined the interrelations among teacher support, grit, and L2 willingness to communicate (WTC), focusing mainly on the mediating role of foreign language enjoyment (FLE). A sample of 619 university students in China participated in this cross-sectional survey. Structural equation modeling (SEM) was used to analyze the gathered data. The results showed that grit could directly and positively predict L2 WTC. Furthermore, teacher support and grit could affect L2 WTC via the mediating role of FLE. These findings served as empirical evidence from the second language acquisition (SLA) domain for positive psychology, revealing the influential mechanism shaping the interconnectedness among all the constructs. The study concluded with a discussion of pedagogical implications and suggestions for future research.
Appendiceal goblet cell adenocarcinoma newly classified by WHO 5th edition: a case report (a secondary publication)
Authors: Azuma Takayasu , Sato Yoshihiro , Chiba Hiroto , Haga Junichiro 
Published: July 2024

Abstract
Background
Appendiceal goblet cell adenocarcinoma (AGCA) is a newly proposed cancer type in the 5th edition of the WHO Classification of Tumours in 2019. We experienced this rare form of appendiceal primary neoplasm.

Case presentation
An 85-year-old male presented a positive fecal occult blood test. A series of imagings revealed a type 1 tumor, located on the appendiceal orifice. The subsequent biopsy made the diagnosis of signet-ring cell carcinoma. Consequently, he underwent the laparoscopic-assisted ileocecal resection. Initially, the tumor was suspected to be a Goblet cell carcinoid (GCC). There was a discrepancy between the histological and immunostaining findings: the tumor cells exhibited morphological similarities to GCCs, however displayed limited staining upon immunostaining. Ultimately, we concluded that the tumor should be classified as AGCA, by following WHO 5th Edition. AGCA represents a newly categorized subtype of adenocarcinomas. Because of our preoperative suspicion of malignancy, we performed tumor resection with regional lymph node dissection, despite the fact that most appendiceal malignant tumors are typically identified after an appendectomy.

Conclusion
We experienced a case that provides valuable insights into the comprehension of AGCA, a recently established pathological entity in the WHO 5th Edition. This article is an acceptable secondary publication of a case report that appeared in Azuma et al. (J Jpn Surg Assoc 83:1103–1108, 2022)
Refugee voices vs. humanitarian choices: how much can refugee-led organizations redefine power and agency in post-2019 Lebanon?
Authors: Diab Jasmin Lilian , Jasiukaitis Simona , El-Zakka Yara 
Published: July 2024

AbstractIn the humanitarian landscape, especially post-COVID-19, there has been a notable pivot towards inclusivity and participatory methodologies, emphasizing the pivotal role of refugee-led organizations (RLOs). In Lebanon, amidst persistent economic and political turmoil, RLOs serve as crucial support systems for Syrian and Palestinian refugees within an environment plagued by inconsistent refugee policies and heightened vulnerabilities. Academic discourse underscores the increasing significance of RLOs in humanitarian assistance, yet systemic hurdles such as power differentials and tokenistic inclusion have emerged, constraining their effectiveness and integration within the humanitarian sphere. This study critically examines the application of inclusivity within humanitarian operations, aligned with the principles outlined in the Agenda for Humanity, specifically scrutinizing how prevailing narratives and operational dynamics may marginalize RLOs in Lebanon, thereby impeding their efficacy. It endeavors to evaluate how RLOs can assert themselves as principal stakeholders in humanitarian endeavors, striving for a more equitable and pragmatic approach to power dynamics and strategic planning for refugee communities. Utilizing a qualitative and participatory methodology, this research engages with diverse RLOs in Lebanon, conducting interviews to realistically and practically frame their experiences, obstacles, and contributions within the humanitarian landscape across entrenched and often rigid hierarchies, power dynamics, and tokenism within Lebanon’s broader humanitarian landscape.
IgA nephropathy recurrence after living donor kidney transplantation: a retrospective analysis of postoperative outcomes at a single high-volume transplant center
Authors: Schmidt Jacob , Liefeldt Lutz , Baysal Emre , Töpfer Stella , Dagnæs-Hansen Julia , Lerchbaumer Markus , Schlomm Thorsten , Ralla Bernhard , Friedersdorff Frank , Peters Robert 
Published: July 2024

Abstract
Background
IgA nephropathy (IgAN) is a common primary glomerulonephritis leading to end-stage renal disease. Living donor kidney transplantation (LDKT) is considered a favorable treatment option, but IgAN recurrence rates and the impact on outcome is unclear. In the present study, we retrospectively analyzed the rate of IgAN recurrence, risk factors and clinical outcomes in LDKT recipients.

Methods
We analyzed 193 adult patients who received a LDKT between 2011 and 2017 of which 32 (16.7%) had IgAN as underlying disease. Demographic data and clinical outcomes, especially regarding IgAN recurrence, were evaluated. Mean follow-up period was 102.13 months in the IgAN group vs. 97.27 months in the control group.

Results
Among the IgAN cohort, five (15.63%) experienced IgAN recurrence. Patients with IgAN underwent LDKT at a significantly younger age (p < 0.001). No significant differences were observed in demographic factors, HLA-mismatches, or AB0-compatibility. Patients receiving an immunosuppressive regimen including Cyclosporine A (60% vs. 7.4%) instead of Tacrolimus (40% vs. 92.6%) were significantly more likely to develop IgAN recurrences (p < 0.001). Moreover, early post-surgery serum creatinine levels were higher in the recurrence group at one week (4.25 vs. 1.65 mg/dl; p < 0.001), one month (2.13 vs. 1.53 mg/dl; p = 0.027) and two years (2.65 vs. 1.34 mg/dl; p = 0.008). Although graft survival displayed a tendency towards inferior outcomes after recurrence, significance was not reached (p = 0.14, log-rank test).

Conclusion
Living donor kidney transplantation continues to be recommended as the preferred treatment option for IgAN patients, despite the potential risk of recurrence and graft loss.
Mitochondrial neurogastrointestinal encephalopathy: a case report
Authors: Jamalipour Soufi Ghazaleh , Hekmatnia Ali , Hekmatnia Farzaneh , Zarei Andrew Parviz , Riahi Farshad , Shafieyoon Shamim , Azizollahi Sara 
Published: July 2024

Abstract
Background
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disease associated with alterations in mitochondrial DNA (mtDNA). The typical age of onset of MNGIE is between the first and second decade of life. Diagnosis requires the presence of several key clinical features: sensorimotor neuropathy, external ophthalmoplegia, ocular ptosis, leukoencephalopathy, and gastrointestinal (GI) dysmotility. Unfortunately, MNGIE diagnosis is very challenging, and patients often undergo multiple diagnostic and surgical operations that are unnecessary.

Case presentation
This case is of a 51-year-old male presenting with a 2-year history of limb weakness, GI problems and cachexia. There was also a 1-year history of progressive ptosis and ophthalmoplegia. The patient’s uncle and brother had both died from GI-related issues prior to the age of 40. On physical examination, ocular motility was impaired in all directions and there was atrophy and reduction in power in both lower and upper extremities. FLAIR and T2-weighted sequences of brain MRI demonstrated diffuse cerebral white matter hyperintensity (leukoencephalopathy). On discharge, the patient was referred for genetic consultation for bone marrow transplantation and had regular follow-up with a gastroenterology specialist.

Conclusion
In patients presenting with chronic progressive ophthalmoplegia, severe gastrointestinal complications, sensorimotor neuropathy and white matter lesions on MRI, it is important to consider investigating for MNGIE.
Revolutionizing consumer insights: the impact of fMRI in neuromarketing research
Authors: Alsharif Ahmed H. , Mohd Isa Salmi 
Published: July 2024

AbstractThis study performs a comprehensive bibliometric (performance analysis) and thematic content analysis of global research in "neuromarketing or consumer neuroscience" and "functional magnetic resonance imaging or fMRI." Utilizing the PRISMA framework and R package software, we analyzed thirty-six Scopus-indexed articles. The USA and California Institute of Technology emerged as leading contributors, with Rangel, A., and Reimann, M., as notable authors. Prominent themes include 'advertising,' 'product,' 'price,' and 'brand', with the “Journal of Consumer Psychology” and “Journal of Neuroscience” being key publications. The most cited article is "Marketing actions can modulate neural representations of experienced pleasantness," with 620 citations. In addition, fMRI has been used to study consumer behavior (impulsiveness, reward, emotion, decision-making, and memory) toward marketing stimuli such as price (WTP), advertising (celebrity endorsement, MSV), product (packaging design), and brand (Halal logo, label, and personality). This study provides an invaluable literature review matrix and detailed insights into the current trends in global neuromarketing research utilizing fMRI. This study highlights the significant impact of fMRI in both academic and commercial realms, offering new insights for targeted marketing and consumer behavior research. It provides valuable guidance for developing more effective advertising strategies, understanding consumer decision-making processes, enhancing business performance, and collaborating academically.
I-SPY2 Endocrine Optimization Pilot (EOP): Neoadjuvant amcenestrant +/- abemaciclib +/- letrozole in molecularly selected patients (pts) with HR+ HER2- stage 2/3 breast cancer (BC).
Authors: Chien Amy Jo , Mukhtar Rita A. , Giridhar Karthik , Olopade Olufunmilayo I. , Kalinsky Kevin , Vaklavas Christos , Elias Anthony D. , Wei Mei , Goetz Matthew P. , van 't Veer Laura , Alkhafaji Silver , Rugo Hope S. , Chen Nan , Symmans W. Fraser Fraser , Borowsky Alexander D. , Brown Swigart Lamorna , Onishi Natsuko , Yee Douglas , Hylton Nola , Esserman Laura 
Published: July 2024

601 Background: EOP is an I-SPY2 neoadjuvant sub-study designed to test the tolerability and impact of novel endocrine-based strategies in stage 2/3 BC pts predicted to have lower benefit from chemotherapy. Amcenestrant (A) is an oral selective estrogen receptor degrader (SERD) with activity in hormone receptor positive (HR+) HER2- metastatic BC. Methods: EOP eligibility included pts screened for the main I-SPY2 trial with HR+ HER2-, MammaPrint (MP) low risk Stage 2/3 BC. Pts with MP High risk tumor signatures were eligible if clinically node-negative (cN-). Pts were stratified by SET index and menopausal status. Pts were randomized to 3 arms: A 200 mg qd (A), A + abemaciclib 150 mg bid (AA), A + letrozole 2.5 mg qd (AL). Premenopausal pts received concurrent ovarian function suppression. Treatment was for 6 mos followed by surgery. Baseline (BL) and 3-wk biopsies were performed. Breast MRIs were conducted at BL (T0), 3 wks (T1), 12 wks (T2), 6 mos (T3). The primary endpoint was feasibility, defined as >75% of pts completing >75% study therapy. Results: Between May 2021 and Aug 2022, 74 pts were randomized: 31 A, 21 AA, 22 AL. Median age 50 years, 54% premenopausal, 38% clinically node-positive (cN+). 41% pts had ductal, 38% lobular, 11% mixed ductal/lobular histology. Mean BL tumor Ki67 (central testing) was 16.9%, 88% MP low, 76% SET index Hi. Pt and tumor characteristics were balanced across the 3 arms. Treatment in all 3 arms was feasible with 95% of pts completing >75% study therapy. Most common AEs include grade 1-2 hot flashes (69%) and fatigue (66%). Grade 3 AEs include neutropenia (2 pts) and diarrhea (1 pt) in AA. Table summarizes key response endpoints, which were similar between pre- and postmenopausal pts. Of 28 cN+ pts, 2 (7%) were pathologically node-negative (pN-). Mean MRI Functional Tumor Volume (cc) change between T0->T1, T1->T2, T2->T3, T0->T3 was -6.06 (-34.2%), -3.55 (-29.2%), -0.829 (-20.1%), -11.3 (-68.4%), respectively, similar across arms (p=0.396).ctDNA was detected in 10/59 (17%) pts at T0. ctDNA became undetectable in 6 pts, decreased in 4 pts, and went from ctDNA undetectable at baseline to detectable at T3 in 2 pts. Conclusions: Six months of neoadjuvant endocrine therapy (NET) with the oral SERD amcenestrant is feasible, well-tolerated, and demonstrates anti-proliferative and anti-tumor activity in pre- and postmenopausal pts. NET provides a rich platform for biomarker discovery and investigating response to endocrine therapy. Clinical trial information: NCT01042379 . [Table: see text]
The impact of neighborhood socioeconomic deprivation on overall survival for patients with metastatic pancreatic cancer: An incidence-based retrospective cohort study.
Authors: Pattnaik Aishwarya , Powers Benjamin Daniel 
Published: July 2024

e16340 Background: Studies have demonstrated that metastatic pancreatic cancer patients are undertreated in the United States, which leads to worse overall survival (OS). However, these studies have typically used large geographic areas (zip codes or counties) for assessment of socioeconomic deprivation (SED). Using a statewide cancer registry, SED at the neighborhood level was used to assess receipt of treatment and OS for metastatic pancreatic cancer patients. Methods: Using the incidence-based Florida Cancer Data System, pancreatic adenocarcinoma patients diagnosed from 2007-2015were identified. The predictor variable was the Area Deprivation Index (ADI), a composite measure of SED and validated dataset that ranks neighborhoods (census block groups) from 1-100 (higher scores = higher deprivation) at the national level. Demographic, tumor, and treatment variables were assessed. Descriptive statistics and survival analysis with Kaplan-Meier curves and the log-rank test were used. Results: Overall, 9,747 patients met inclusion criteria; 53.9% were male and the median age was 70 (range 19-102). When assessed by SED quartile, there were significant differences by age, gender, race, ethnicity, insurance, and receipt of chemotherapy (p < 0.05). For the cohort, 46.5% of patients received chemotherapy. However, 54% of the lowest SED cohort received chemotherapy compared to 39.4% of the highest SED cohort (p < 0.001). The 30- and 90-day mortality was 21.7% and 50.1%, respectively. For the lowest SED quartile, 30- and 90-day mortality were 18.5% and 43.4%, respectively, compared to the highest SED quartile rate of 25.1% and 56.2%, respectively (p < 0.001 for both). Median OS was 2.9 months. The median OS for the lowest and highest SED quartiles was 3.8 and 2.4 months, respectively (p < 0.001). For patients who received chemotherapy, median OS was 6.3 months. The median OS of the lowest and highest SED quartiles for those who received chemotherapy was 7.2 and 5.9 months, respectively (p < 0.001). Conclusions: In an incidence-based, statewide cancer registry, the median OS for metastatic pancreatic cancer patients remains poor (2.9 months) and most patients do not receive chemotherapy. Additionally, higher SED patients had worse survival than lower SED patients at several time points. These data suggest that SED impacts OS and future studies are needed to understand the multilevel factors, including cancer care coordination, that lead to survival disparities in metastatic pancreatic cancer. [Table: see text]