bluuebunny/crossref_metadata_2025_split huggingface dataset:
Assessment of long-term psychosocial outcomes in N-methyl-D-aspartate receptor encephalitis – the SAPIENCE study protocol
Authors: Boeken Ole Jonas , Heine Josephine , Duda-Sikula Marta , Patricio Víctor , Picard Géraldine , Buttard Chloé , Benaiteau Marie , Mendes Álvaro , Howard Fuchsia , Easton Ava , Kurpas Donata , Honnorat Jérôme , Dalmau Josep , Finke Carsten 
Published: September 2024

Abstract
Background
N-methyl-D-aspartate-receptor (NMDAR) encephalitis is a rare neurological autoimmune disease with severe neuropsychiatric symptoms during the acute phase. Despite good functional neurological recovery, most patients continue to experience cognitive, psychiatric, psychological, and social impairments years after the acute phase. However, the precise nature and evolving patterns over time of these long-term consequences remain unclear, and their implications for the well-being and quality of life of predominantly young patients have yet to be thoroughly examined.

Methods
SAPIENCE is a European multi-center (n = 3) prospective observational cohort study studying the long-term cognitive, psychiatric, psychological, and social outcome in patients with NMDAR encephalitis. The study consists of three interconnected levels. Level 1 comprises a qualitative interview and focus groups with patients and their caregivers. Level 2 consists of a condensed form of the interview, standardized questionnaires, and a detailed neuropsychological examination of patients. Level 3 involves an online survey that will be open to patients world-wide and explores patient-reported outcomes (PROMs), and patient-reported experiences (PREMs) in association with clinical and cognitive outcomes. Levels 1 to 3 will progressively contribute developing of structured interviews, survey questions, and treatment guidelines by informing one another.

Discussion
SAPIENCE is an in-depth study of the long-term effects of NMDAR encephalitis and bridges the gap between standardized assessments and individual patient experiences, intending to improve patient care and to increase awareness of the psychosocial long-term consequences of the disease. Through collaboration of experts in clinical neurology and social and health psychology across Europe, SAPIENCE aims to create online assessment tools and formulate guidelines for patient-centered post-acute care that will help enhance the quality of life for patients and caregivers.
Correlation of TNF-α polymorphisms with susceptibility to lung cancer: evidence from a meta-analysis based on 29 studies
Authors: HaghighiKian Seyed Masoud , Shirinzadeh-Dastgiri Ahmad , Ershadi Reza , Vakili-Ojarood Mohammad , Barahman Maedeh , Dastgheib Seyed Alireza , Asadian Fatemeh , Shiri Amirmasoud , Aghasipour Maryam , Rahmani Amirhossein , Aghili Kazem , Neamatzadeh Hossein 
Published: September 2024

Abstract
Objective
This meta-analysis aims to clarify the association between the TNF-α -308G > A and − 238G > A polymorphisms and lung cancer risk.

Method
A comprehensive search was conducted for relevant articles across databases such as PubMed, Google Scholar, Web of Science, EMBASE, and CNKI, up to September 25, 2023. Lung cancer risk was assessed by calculating odds ratios (ORs) and their 95% confidence intervals (CIs). The Z-test was used to determine the significance of combined ORs, with P < 0.05 considered statistically significant. All analyses were performed using Comprehensive Meta-Analysis (CMA) 2.0 software.

Results
The analysis included 19 case-control studies with 3,838 cases and 5,306 controls for the TNF-α -308G > A polymorphism, along with 10 studies comprising 2,427 cases and 2,357 controls for the − 238G > A polymorphism. The − 308G > A polymorphism showed no significant overall relationships, though in the Asian subgroup, the A allele was significantly reduced compared to G (OR: 0.831, p = 0.028) and the AA genotype showed significant reductions versus GG (OR: 0.571, p = 0.021), with no significant correlation in Caucasians. In non-small cell lung cancer (NSCLC), the A allele was associated with increased risk compared to G (OR: 1.131, p = 0.049). For the − 238G > A polymorphism, the AA genotype significantly increased risk compared to GG (OR: 3.171, p = 0.014), while showing a protective effect in Caucasians (OR: 0.120, p = 0.024) and a heightened risk in Asians (OR: 7.990, p = 0.007). In small cell lung cancer (SCLC), the A allele conferred protective effects, whereas NSCLC showed increased risk for the AA genotype (OR: 11.375, p = 0.002).

Conclusion
The − 308G > A polymorphism has no significant overall relationships but suggests a protective role of the A allele in the Asian subgroup. Conversely, the − 238G > A polymorphism presents a complex risk profile, increasing lung cancer likelihood in Asians while protecting Caucasians. Notably, the AA genotype significantly raises risk for NSCLC, indicating its potential as a risk factor.
Internal validation of modified Mirels’ scoring system for pathologic femur fractures
Authors: Desai Vishal S. , Amendola Richard L. , Mann Kenneth A. , Damron Timothy A. 
Published: September 2024

Abstract
Background
The proximal femur is a common site of bone metastasis. The Mirels’ score is a frequently utilized system to identify patients at risk for pathologic fracture and while it has consistently demonstrated strong sensitivity, specificity has been relatively poor. Our group previously developed a Modified Mirels’ scoring system which demonstrated improved ability to predict cases at risk of fracture in this patient population through modification of the Mirels’ location score. The purpose of the present study is to internally validate this newly developed scoring system on an independent patient series.

Methods
Retrospective review was performed to identify patients who were evaluated for proximal femoral bone lesions. Patients were stratified into one of two groups: 1) those who went on to fracture within 4 months after initial evaluation (Fracture Group) and 2) those who did not fracture within 4 months of initial evaluation (No Fracture Group). Retrospective chart review was performed to assign an Original Mirels’ (OM) Score and Modified Mirels’ (MM) score to each patient at the time of initial evaluation. Descriptive statistics, logistic regression, receiver operating curve, and net benefit analyses were performed to determine the predictability of fractures when utilizing both scoring systems.

Results
The use of the MM scoring improved fracture prediction over OM scoring for patients observed over a 4 month follow up based on logistic regression. Decision curve analysis showed that there was a net benefit using the MM score over the OM scoring for a full range of fracture threshold probabilities. Fracture prevalence was similar for current internal validation dataset when compared to the dataset of our index study with a comparable reduction in misclassification of fracture prediction when utilizing the modified scoring system versus the original.

Conclusions
Use of MM scoring was found to improve fracture prediction over OM scoring when tested on an internal validation set of patients with disseminated metastatic lesions to the proximal femur. The improvement in fracture prediction demonstrated in the present study mirrored the results of our index study during which the MM system was developed.
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
Authors: Lyulcheva-Bennett Ekaterina , Kershaw Christopher , Baker Eleanor , Gillies Stuart , McCarthy Emma , Higgs Jenny , Canham Natalie , Hennigan Dawn , Parks Chris , Bennett Daimark 
Published: September 2024

Abstract
Background
Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) gene variants, respectively. The coexistence of two distinct Mendelian disorders in a single individual is uncommon and challenges the traditional paradigm of a single genetic disorder explaining a patient’s symptoms, opening new avenues for diagnosis and management.

Case Presentation
We present a case of a female patient initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant. She was referred to our genetic department due to her unusually small head circumference and short stature, which were both significantly below the expected range for achondroplasia. Additional features included distinctive facial characteristics, significant speech delay, conductive hearing loss, and epilepsy. Given the complexity of her phenotype, she was recruited to the DDD (Deciphering Developmental Disorders) study and the 100,000 Genomes project for further investigation. Subsequent identification of a complex EFTUD2 intragenic rearrangement confirmed an additional diagnosis of mandibulofacial dysostosis with microcephaly (MFDM).

Conclusion
This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient. This case underscores the complexity of genetic diagnoses and the potential for coexistence of multiple genetic syndromes in a single patient. This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis.
Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh
Authors: Hossain Md. Jubayer , Das Manisha , Munni Ummi Rukaiya 
Published: September 2024

AbstractThalassemia poses a major public health concern in Bangladesh with a high prevalence of carriers. However, there is a substantial knowledge gap regarding its epidemiology, clinical aspects, and treatment outcomes. Despite its high prevalence, there is a notable lack of awareness regarding thalassemia in the Bangladeshi population. The absence of precisely validated data impedes a comprehensive understanding of this disease.Premarital thalassemia screening is reportedly a successful strategy for countries such as Saudi Arabia and Iran and has also been proposed for Bangladesh. Mandatory screening coupled with genetic counseling is promising for reducing the prevalence of thalassemia by identifying carriers and providing relevant health education. However, sociocultural barriers, challenges, financial constraints, and health risks associated with prenatal diagnosis and abortion could hinder the success of such programs.Positive outcomes from other countries underscore the effectiveness of such programs in reducing thalassemia incidence. The early identification of carriers and genetic counseling can significantly reduce the burden of thalassemia. Additionally, the strain on the healthcare system would be eased, and the quality of life of thalassemia patients would be improved.In conclusion, based on evidence mandatory premarital screening with genetic counseling could be an effective measure to reduce the prevalence of thalassemia in Bangladesh. Leveraging positive attitudes, adopting successful international models, and addressing existing challenges are crucial for the successful implementation of programs that contribute to the overall health and well-being of the country’s population.
A comprehensive map of the aging blood methylome in humans
Authors: Seale Kirsten , Teschendorff Andrew , Reiner Alexander P. , Voisin Sarah , Eynon Nir 
Published: September 2024

Abstract
Background
During aging, the human methylome undergoes both differential and variable shifts, accompanied by increased entropy. The distinction between variably methylated positions (VMPs) and differentially methylated positions (DMPs), their contribution to epigenetic age, and the role of cell type heterogeneity remain unclear.

Results
We conduct a comprehensive analysis of > 32,000 human blood methylomes from 56 datasets (age range = 6–101 years). We find a significant proportion of the blood methylome that is differentially methylated with age (48% DMPs; FDR < 0.005) and variably methylated with age (37% VMPs; FDR < 0.005), with considerable overlap between the two groups (59% of DMPs are VMPs). Bivalent and Polycomb regions become increasingly methylated and divergent between individuals, while quiescent regions lose methylation more uniformly. Both chronological and biological clocks, but not pace-of-aging clocks, show a strong enrichment for CpGs undergoing both mean and variance changes during aging. The accumulation of DMPs shifting towards a methylation fraction of 50% drives the increase in entropy, smoothening the epigenetic landscape. However, approximately a quarter of DMPs exhibit anti-entropic effects, opposing this direction of change. While changes in cell type composition minimally affect DMPs, VMPs and entropy measurements are moderately sensitive to such alterations.

Conclusion
This study represents the largest investigation to date of genome-wide DNA methylation changes and aging in a single tissue, providing valuable insights into primary molecular changes relevant to chronological and biological aging.
Locally advanced rectal cancer in a young adult affected with dyskeratosis congenita (Zinsser–Cole–Engman syndrome): a case report
Authors: Ono Kosuke , Hiyoshi Yukiharu , Ono Asuka , Ouchi Mayuko , Kosumi Keisuke , Eto Kojiro , Ida Satoshi , Iwatsuki Masaaki , Baba Yoshifumi , Miyamoto Yuji , Kajihara Ikko , Tanaka Kazuhito , Miyasato Yuko , Baba Hideo 
Published: September 2024

Abstract
Background
Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a progressive genetic disease with a triad of reticulate skin pigmentation, nail dystrophy, and leukoplakia. Approximately 8–10% of patients with DKC develop malignancies, and cases of colorectal cancer with DKC in young people have been reported previously.

Case presentation
A 25-year-old man with DKC since approximately 10 years of age developed fever and lower abdominal discomfort. Diagnostic imaging revealed locally advanced rectal cancer with lymph node metastasis, direct invasion of the prostate, and pelvic abscess due to tumor microperforation (cT4bN2M0 cStage IIIC). Biopsy showed well to moderately differentiated ductal adenocarcinoma. Genetic testing was negative for RAS and BRAF gene mutations, and microsatellite instability (MSI) testing was also negative. After sigmoid colostomy, the patient was treated with total neoadjuvant therapy (TNT) with systemic chemotherapy (six courses of FOLFOX + panitumumab) followed by chemoradiation therapy (50.4 Gy with capecitabine). After TNT, the primary tumor and metastatic lymph nodes shrank. According to the findings of colonoscopy and magnetic resonance image (MRI), we diagnosed near complete response (near-CR) and decided to follow the patient without surgery by every 3 months re-evaluation. However, 5 months after TNT, tumor regrowth was detected on colonoscopy and imaging, and the patient underwent total pelvic exenteration. He developed paralytic ileus as a postoperative complication, and was discharged on the 38th postoperative day. Pathological examination revealed a residual tumor with invasion of the periprostatic tissue. There was no metastasis in the pararectal and lateral pelvic lymph nodes, but one extramural non-contiguous cancerous extension (tumor deposit) was observed (ypT4bN1cM0 ypStage IIIC). The patient has been free of recurrence for one year after surgery.

Conclusions
DKC often develops into various tumors in the digestive system at an early age; therefore, appropriate surveillance may be required. In addition, considering that cancers in patients with DKC occur at a young age, fertility preservation and survivorship are also important, and adequate explanations and care should be provided to patients before and after treatment.
Ecological aspects of three strains of entomopathogenic nematodes from the department of Lambayeque-Peru
Authors: Adrianzén Jennifher Elizabeth Rodas , Dávila Raúl Samuel Cueva , Tesén Edgar Darwin Pérez , Arias Carmen Patricia Calderón , Cabrera Alexander Chávez 
Published: September 2024

Abstract
Background
Entomopathogenic nematodes (EPN) are used as a biological control agent for different insect pests in agriculture. The genera Heterorhabditis and Steinernema are the most used commercially. For an EPN species to be used as a biological controller, it is necessary to know its ecological aspects, including reproductive potential, movement capacity, and mean lethal concentration (LC50). These aspects were evaluated in three EPN strains isolated in Galleria mellonella larvae collected in the Lambayeque-Peru region, to determine if they are promising as biological controllers. The strains of EPN studied are Heterorhabditis sp. (PC9 strain), H. bacteriophora Poinar (PM10 strain), and Steinernema diaprepesi Nguyen y Duncan (SV19 strain).

Results
Heterorhabditis sp. (PC9 strain) and H. bacteriophora (PM10 strain) had high production of infective juveniles (IJs): 217.750 and 186.800, respectively, while S. diaprepesi (SV19 strain) only reached 84.150 IJs. The movement capacity of Heterorhabditis sp. (PC9 strain) and H. bacteriophora (PM10 strain) reached a depth of 15 cm to parasitize G. mellonella larvae, while S. diaprepesi (SV19 strain) only reached 10 cm. In decreasing order, the LC50 value of S. diaprepesi (SV19 strain), Heterorhabditis sp. (PC9 strain) and H. bacteriophora (PM10 strain) were: 24.03, 13.74, and 8.19 IJs/ml, respectively.

Conclusions
Heterorhabditis sp. PC9 and H. bacteriophora PM10 are promising a biological control agent because they present great production of IJs, great displacement capacity, and high pathogenicity against G. mellonella. Additionally, both strains present a mixed search strategy or seeker-hunter (seeker-browser).
Remembering Andrew Fry (1966–2024)
Authors: Bayliss Richard , Fry Tim , Mahen Robert , Shackleton Sue , Tanaka Kayoko 
Published: September 2024

ABSTRACT
In this article we reflect on the life and work of Andrew Fry, a renowned molecular cell biologist and a cherished member of the scientific community at the University of Leicester, UK, who passed away on 30th April 2024 at the age of 57. His groundbreaking work on the cellular mechanisms of Never in Mitosis gene-A related kinases (Neks) made an indelible mark on the field. Alongside his scientific achievements, Andrew was an exceptional mentor, a thoughtful academic leader and a dependable collaborator. To understand what motivated Andrew, we first need to look into his background.
Do Employees Cheer for Private Equity? The Heterogeneous Effects of Buyouts on Job Quality
Authors: Gornall Will , Gredil Oleg R. , Howell Sabrina T. , Liu Xing , Sockin Jason 
Published: September 2024

We show that private equity leveraged buyouts reduce perceived job quality despite not impacting average base pay. This appears to reflect employees bearing more risk. Both job quality and employee incentive pay are more related to firm performance at private equity-owned companies than at public control firms with 1% higher deal rate of return associated with 0.7% more employee incentive pay. Deals with high leverage and employees with worse outside options fuel the declines in job satisfaction after a buyout. Our results highlight how job quality is tied to job security and how ownership affects employees through mechanisms beyond base pay. This paper was accepted by David Sraer, finance. Funding: W. Gornall thanks the Social Sciences and Humanities Research Council Insight Development [Grant 430-2019-00306] for its support and gratefully acknowledges that this research was undertaken, in part, thanks to funding from the Canada Excellence Research Chairs program awarded to Dr. Erik Snowberg in data-intensive methods in economics. Supplemental Material: The online appendix and data files are available at https://doi.org/10.1287/mnsc.2022.00951 .
Optimizing Offline Product Design and Online Assortment Policy: Measuring the Relative Impact of Each Decision
Authors: Wang Mengxin , Zhang Heng , Rusmevichientong Paat , Shen Max 
Published: September 2024

Revenue management decisions often involve both offline and online decisions. Offline decisions are made first and establish the broad and long-term operational context in which online decisions are frequently and repeatedly made, often in real time. We consider a joint optimization of offline and online decisions. Specifically, we examine a setting in which the offline decision concerns the selection of product-design characteristics (e.g., price, capacity, return eligibility, and other characteristics) and the online decision concerns the dynamic assortment optimization over a selling season. Our formulation has many applications, including optimizing products’ return eligibility and determining product discounts, and a key feature of our model is its explicit consideration of complex return dynamics and accompanying financial implications. We formulate an optimization problem that combines the impact of both offline and online decisions on the expected revenue. To determine the product design, we reformulate the choice-based deterministic linear program, solve its continuous relaxation, and round the resulting solution. Using value function approximations enables us to obtain a dynamic assortment policy whose expected revenue is at least a constant fraction of the choice-based deterministic linear program. Combining these two results, we show that our approach provides an approximate solution to the joint optimization problem with performance guarantees. Numerical experiments based on real transaction data from a major U.S. retailer show that our method achieves 95%–97% effectiveness, an advantage of up to 18% over methods that disregard the interplay between offline and online decisions. This framework also yields a systematic quantitative measure of the relative importance of both offline and online decisions. Based on this measure, numerical experiments highlight the crucial role of product design, accounting for 94% and 85% of the observed variation in effectiveness across various methods in applications involving volume discount and return eligibility, respectively. This paper was accepted by Victor Martinez de Albeniz, operations management. Funding: This work was supported by the National Science Foundation’s Division of Civil, Mechanical and Manufacturing Innovation [Grant 2226901]. Supplemental Material: The online appendix and data files are available at https://doi.org/10.1287/mnsc.2022.01167 .