bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial adenomatous polyposis family with clustering of psychiatric disorders
Authors: Funaki Masako , Noguchi Atsuko , Ishikawa Hayahito , Noutomi Rie , Fukuda Koji , Shimazu Kazuhiro , Yoshida Taichi , Taguchi Daiki , Shinozaki Hanae , Kodama Naoaki , Mishima Kazuo , Nanjo Hiroshi , Takahashi Tsutomu , Shibata Hiroyuki 
Published: January 2025

Abstract
Familial adenomatous polyposis (FAP) is an inherited disorder that follows an autosomal dominant inheritance pattern and is caused by a germline pathogenic variant in the APC gene. FAP also has extracolonic manifestations, including osteomas, brain tumors, and congenital hypertrophy of the retinal pigmented epithelium. Desmoid tumor is a rare soft-tissue tumor often associated with FAP. APC is a WNT signal transduction molecule that is abundantly expressed in the central nervous system. The truncation mutations of the APC gene are responsible for FAP. Further, the C-terminal domains of APC associate with proteins such as EB1 and hDLG, which are involved in central nervous system functions. In recent years, several reports have indicated an association between FAP and mental disorders. We have identified a family with FAP that has a cluster of mental disorders. The female probrand experienced FAP and desmoid tumors in her thirties. She underwent a total colectomy and tumor resection. Her genetic test revealed a pathogenic germline pathogenic variant in the APC gene, c.3183_3187del. Her maternal grandmother and great-grandmother had colorectal polyposis. She has some mental disorders, and her son and daughter both have autism spectrum disorder (ASD). It was reported that her younger sister and her two daughters have intellectual disability and symptoms of ASD. For these situations, we found that mental health care is crucial when providing genetic counseling and medical care, especially to younger patients with FAP and carriers of pathological variants of the APC gene.
Selumetinib for symptomatic, inoperable plexiform neurofibromas in pediatric patients with neurofibromatosis type 1: the first single-center real-world case series in Japan
Authors: Nishida Yoshihiro , Nonobe Norie , Kidokoro Hiroyuki , Kato Taichi , Takeichi Takuya , Ikuta Kunihiro , Urakawa Hiroshi , Sakai Tomohisa , Koike Hiroshi , Fujito Takeo , Imagama Shiro 
Published: January 2025

Abstract

Objective
In Japan, selumetinib is used in pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibroma (PN). However, there have been no real-world reports on Japanese patients. In this study, we reported a single-center, short-term experience with selumetinib after its approval in Japan.

Methods
We prospectively collected data from 11 pediatric NF1 patients with symptomatic, inoperable PN who were initiated on selumetinib between November 2022 and May 2023; the selumetinib was administered by the same physician. Various patient factors, tumors, dose and efficacy of selumetinib, and adverse events (AE) were investigated.

Results
Of 11 patients included, 7 were male, with a mean age of 14 years. The sites of symptomatic main PN included the head and neck, pelvis to lower extremities, and paraspinal lesions in five, three, and three patients, respectively. The median maximum diameter of the main PN was 91 mm, and the median follow-up duration was 19 months. All patients with pain or motor dysfunction experienced symptom improvement after treatment, and the tumors tended to shrink in 7 of the 11 patients (64%). Among the six patients with disfigurements, only one experienced improvement. Of 59 AEs observed, 58 (98%) were grades 1 and 2, and 5 patients (46%) underwent temporary selumetinib withdrawal due to AEs. One patient discontinued the drug (9%) because of rash dermatitis.

Conclusions
Despite the relatively short-term results, no serious AEs were observed, and many patients benefited from selumetinib treatment. In some patients, administration was discontinued or interrupted because of the balance between benefits and AEs, and further data are needed to better understand the general safety and efficacy of selumetinib.
How to write a judgment: creative writing and international adjudication
Authors: Gasbarri Lorenzo 
Published: January 2025

Abstract
This article focuses on the craft of writing as an essential component of judicial practice. After explaining why writing matters and why the legal scholar can rely on creative writing to describe judicial writing, the article focuses on the sentence, the characters, and the plot as the basic units of the text. The law is made of words, and basic rules of composition can reveal its deeper mechanisms. Whether to include an adverb to highlight the importance, to hide the subject of a sentence to construct an objective truth, or to order the arguments in a favourable structure, writers’ choices reflect the balance of the counteracting interests represented in the judicial proceeding. The article relies both on the close reading of several judgments of international courts and the distant reading of the corpus of decisions of the International Court of Justice, analysed through computational analysis.
Thoracic approach for suspected internal mammary lymph node recurrence following mastectomy and implant-based reconstruction: a case report
Authors: Murayama Daisuke , Hirano Ryosuke , Mishima Osamu , Hashizume Toko 
Published: January 2025

Abstract
The use of video-assisted thoracic surgery (VATS) has increased in recent years. We herein report a case wherein suspected intramammary lymph node (IM) recurrence of breast cancer was treated using the thoracic approach (VATS). A 53-year-old woman had undergone right total mastectomy, axillary lymph node dissection, and implant-based reconstruction for right breast cancer 19 years ago. Hormone therapy was commenced postoperatively. Positron emission tomography as health check up performed at another hospital 1 year prior to presentation revealed enlargement of the right IMs, suggesting recurrence of breast cancer. IM biopsy was performed using VATS to preserve the artificial breast implant. The operative time and blood loss were 157 min and 20 ml, respectively. The postoperative course was favourable. IM biopsy revealed reactive enlargement owing to inflammation. In conclusion, VATS is a safer approach that yields superior outcomes in terms of appearance care.
Innovative microphone transmitter reveals differences in acoustic structure between broadcast and whisper songs of Myadestes obscurus (ʻŌmaʻo)
Authors: Navine Amanda K , Paxton Kristina L , Netoskie Erin C , Tysall Eirlys , Paxton Eben H , Hart Patrick J 
Published: January 2025

ABSTRACT
Low-amplitude “whisper songs” are a taxonomically broad phenomenon in birds that could play an important role in the suite of behaviors birds use to communicate. Due to its cryptic nature, there are inherent difficulties in capturing high-quality whisper song recordings without interrupting natural behaviors. Thus, the whisper song acoustic structure is poorly understood and its potential function remains the subject of debate. Here, we present one of the first quantitative assessments of the acoustic structure of whisper song in birds. Using an innovative microphone transmitter, we collected high-quality recordings of broadcast and whisper songs from the Myadestes obscurus (ʻŌmaʻo), a thrush species endemic to the Island of Hawai’i. The transmitter was attached to the birds and broadcasted radio signals of all vocalizations produced by the individual to distances over 100 m away that minimized disruption of the birds’ normal behavior while recording. We demonstrate that M. obscurus whisper songs are a distinct class of vocalization that differs from broadcast songs in acoustic characteristics beyond amplitude, such as song length, frequency, and length of silent intervals between notes. These findings, in conjunction with habitat-associated variation in the rate at which M. obscurus emit these vocalization classes, indicate broadcast and whisper songs likely serve separate functions. This work provides evidence supporting the acoustic adaptation hypothesis that posits that densely vegetated habitats promote the evolution of songs with specific acoustic features that maintain signal integrity as the sound propagates through the environment.
Pluralism and Partnerships
Authors: Crasnow Sharon , Goertz Gary , Haggard Stephan 
Published: January 2025

Abstract
What justifies multimethod research? This chapter draws on recent debates in the philosophy of science on evidential pluralism and places them in dialogue with the evolution of multimethod research in the social sciences. We pay particular attention to the Russo–Williamson hypothesis, which draws on research in the medical and biological sciences to argue that causation typically involves evidence of both association and mechanisms. The chapter demonstrates how this approach has resonance in the social sciences, but also argues that this is but one form that evidential partnerships might take. It shows this by reviewing a new multimethod approach called Large-N Qualitative Analysis, which draws on regularity approaches to causation to make the point and concludes by suggesting a variety of other evidential partnerships that are visible or might be possible.
Repeated evolution: the case of columellar folds in gastropods
Authors: Vermeij Geerat J 
Published: January 2025

Abstract
Most adaptive traits evolved multiple times independently, but the conditions of their evolution remain obscure. Here I examine the origins of columellar folds, spiral ridges on the axial wall of the interior of many gastropod shells, in both extant and fossil gastropods. Analyses indicate that these features arose at least 46 times, primarily in caenogastropods and heterobranchs. Columellar folds do not form in shells in which the coiling axis rises steeply above the apertural plane and in which the rim of the rounded aperture is a logarithmic spiral. More derived clades have shells with a low angle of elevation of the coiling axis, which permits the evolution of a non-circular aperture, a longer columella, and the formation of columellar folds. This architectural predisposition to form folds long preceded the realization of this potential. Functions of columellar folds include reducing apertural access to predators and preventing anteroposterior displacement of soft parts in the shell as parts of the body slide into and out of the shell. These benefits became important late in gastropod history as metabolic rates and activity levels of gastropods and the threat of predation by way of the aperture increased in the later Mesozoic and Cenozoic eras.
Complications and Cost in Open Versus Endoscopic Lumbar Decompression
Authors: Boden Lauren M. , Boden Susanne H. , Muhammad Najib , Kanzler Matthew A. , Casper David S. 
Published: January 2025

Study Design:
A retrospective database study.

Objective:
To compare complications and costs associated with endoscopic and open lumbar decompression on a large scale.

Background:
Though open lumbar decompression is considered the gold standard, endoscopic procedures are on the rise. The majority of studies comparing endoscopic to open decompression have been limited to small retrospective studies or studies in other countries.

Methods:
Patients who underwent single-level endoscopic or open lumbar decompression from 2017 to 2021 with a 2-year follow-up were identified in the PearlDiver database using Current Procedural Terminology and International Classification of Diseases, Tenth Revision codes. Multilevel surgery, concomitant fusion, or cervical/thoracic procedures were excluded. Postoperative complications, including infection, wound dehiscence, and dural tear, were evaluated for both groups, as well as additional lumbar surgery within 2 years. Costs, complications, and rate of repeat surgery were compared between groups.

Results:
A total of 895 endoscopic and 102,258 open lumbar decompression cases met the inclusion criteria. The median age range was 60–64 for both groups, and the majority were low risk on the Charlson Comorbidity Index. Rates of dural tear, infection, and dehiscence were similar between groups. Total cost at 2 years was slightly higher for the endoscopic group ($20,347 vs $18,089, P = 0.03). Patients who underwent endoscopic lumbar decompression were more than twice as likely to undergo a second lumbar surgery in the following 2 years (16% vs 7%, P < 0.00001). Of the patients who underwent additional surgery, there was a higher proportion of patients undergoing reexploration in the open group (33.4% vs 13.8%, P < 0.00001) and a higher proportion undergoing endoscopic decompression in the endoscopic group (35.5% vs 0.64%, P < 0.00001).

Conclusions:
Cost and complication profiles are similar between endoscopic and open lumbar decompression. However, endoscopic decompression patients are more than twice as likely to undergo a second procedure within 2 years. Prospective studies are needed to determine the cause of additional surgery.
Borderline Personality Disorder and Loneliness: Broadening the Scope of Treatment for Social Rehabilitation
Authors: Mermin Sam A. , Steigerwald Georgia , Choi-Kain Lois W. 
Published: January 2025

Abstract
Borderline personality disorder (BPD) has been described as a condition of intolerance of aloneness. This characteristic drives distinguishing criteria, such as frantic efforts to avoid abandonment. Both BPD and loneliness are linked with elevated mortality risk and multiple negative health outcomes. Psychodynamic theories of BPD emphasize fundamental impairment in attachment and interpersonal functioning. Empirical research demonstrates an association between BPD diagnosis and increased loneliness. Individuals with BPD experience higher levels of loneliness than the general population, and their social networks are systematically smaller, less diverse, and less satisfying. Differences in the subjective experience of loneliness persist when controlling for these relevant social network features, indicating that people with BPD experience more loneliness than others in the same objective social circumstances. According to patients with BPD, increased social connection is often a primary treatment goal and marker of satisfying recovery. There are, however, few evidence-based approaches that primarily target loneliness and building life structures that support durable connections with others. Therefore, loneliness persists as an intractable problem, often failing to remit alongside other symptoms, and few resources are routinely implemented to address this problem. In this article, we argue that loneliness is central to the symptomatic oscillations and subjective experiences of many patients with BPD. We propose that treatment extend beyond the overemphasized therapeutic alliance relationship to also promote socialization and group and vocational settings to enhance patients’ social networks. Building larger social networks that rely less on exclusive caregiving and/or romantic relationships and more on role-bound identity building and community relationships would more directly target long-term identity diffusion and relational instability. Such interventions can harness nonclinical community resources, such as group treatment, vocational supports, and peer supports.
Artificial Oxygen Carriers Save Lives in Expanded Access Use: Three Cases when Blood Was Not an Option
Authors: Mei Zhen W. , Raval Jay S. , Arnall Justin , Hwang Sophia H. , Rodberg Karen , Quon Doris , Ward Dawn C. , Ziman Alyssa , McGonigle Andrea M. , Jahr Jonathan S. 
Published: January 2025

Clinical features:
Sickle cell patients may develop a multitude of antibodies and experience life-threatening events with transfusion such as hyperhemolysis syndrome or delayed hemolytic transfusion reaction. Further transfusion may not be possible in such cases.

Therapeutic Challenge:
When conventional blood products are not available for transfusion yet the patient requires additional oxygen-carrying support, artificial oxygen carriers may be required. However, there are no such FDA-approved products available.

Solution:
Emergency investigational new drug applications for a polymerized hemoglobin-based oxygen carrier (HBOC-201, Hemopure) were completed, and Expanded Access use was granted for these patients. HBOC-201 is an investigational bovine hemoglobin-based oxygen carrier. Herein, we report how acute resuscitation with HBOC-201 was potentially life saving while waiting for supportive therapy, erythropoietin, and/or immune modulatory drugs to take effect in all 3 patients.
Impact of transesophageal echocardiogram findings on management of acute ischemic stroke: a retrospective single-institution cohort study
Authors: Eltawansy Sherif , Alshami Abbas , Łajczak Paweł , Dandu Sowmya , Apolito Renato 
Published: January 2025

Background:
Physicians use transesophageal echocardiography (TEE) as part of the workup for acute ischemic stroke; however, its importance is controversial. While its clinical utility in this patient population may seem logical, based on current data and guideline recommendations, there is no empirical recommendation for using TEE over transthoracic echocardiogram (TTE). This study aimed to provide an update on the TEE’s impact on the clinical outcomes of patients with acute stroke.

Methods:
We conducted a retrospective single-institution cohort study at a tertiary care hospital from June 2021 to August 2022 for patients admitted with new-onset ischemic stroke with or without hemorrhagic conversion who subsequently had a TEE completed at the same admission or after discharge. The primary outcome was the detection of management changes based on TEE results, while secondary outcomes included positive findings leading to embolic stroke, the feasibility of performing TEE as an inpatient versus outpatient procedure, and the TTE yield compared to TEE.

Results:
A total of 176 patients underwent TEE to investigate the cause of stroke. The mean age of those with positive TEE findings was 65.5 years versus 66 years for those with negative or irrelevant findings. Positive TEE patients were 47.7% female versus 45% in the negative findings group. Both age and sex comparisons did not yield statistically significant differences (P values 0.81 and 0.73, respectively). Patients with positive TEE findings accounted for 66 (37.5%), with the most common cardiac pathology being patent foramen ovale (PFO), followed by aortic atherosclerotic plaque. The transthoracic echocardiography (TTE) yield was much lower than that of TEE.

Conclusion:
In patients with newly diagnosed stroke, TEE provided high diagnostic value and impacted the management of 23.9 % of all patients who underwent the test. These findings support its continued use in diagnostic workups, with a higher diagnostic yield than the transthoracic approach.

Conflict of Interest:
The authors declare that they have no affiliations with or involvement in any organization or entity with any financial interest in the subject matter or materials discussed in this manuscript.
The prevalence of musculoskeletal pain, and the risk factor among the residents; a cross-sectional study
Authors: Tarcha Raghad , Alsamarrai Omar , Hodifa Yara , Btrush Sana , Mohammad Aya , Tarcha Majd , Kudsi Maysoun , Latifeh Yousef 
Published: January 2025

Background:
A considerable number of resident doctors experience musculoskeletal pain during their residency years. In this study, we seek to determine the prevalence of musculoskeletal pain, as well as its associated risk factors, among a sample of resident doctors.

Methods:
A cross-sectional study was conducted in the Internal Medicine Department of the Faculty of Medicine, with a total of 200 residents participating in filling in the paper-based questionnaire. Standardized Nordic Questionnaire, a modified version was utilized in our study.

Results:
The questionnaire was completed by 200 residents. They were between the ages of 24 and 29 years old, and females were (73%). (54%) of all of them had at least one musculoskeletal pain site in the previous week, while (86%) had at least one musculoskeletal pain site in the last year. On multivariate analysis, factors associated with musculoskeletal pain in the previous week and last year were a familial history of musculoskeletal pain (p = 0.0029) (p = 0.0002), respectively, and a history of trauma (p ≤ 0.001).

Conclusion:
Musculoskeletal pain had a high prevalence among these residents, especially females, those with a history of trauma, and those with a family history of musculoskeletal disorders. This major health problem should be known to medical institutions, and awareness programs are required, in addition to future multicenter and larger studies.
Composition of the Public Health Workforce: Distribution, Training, and Tenure
Authors: Balio Casey P. , Leslie Haleigh , Meit Michael B. 
Published: January 2025

Objective:
Describe the public health and job experience of the local public health workforce at the agency level and based on the characteristics of the jurisdictions they serve.

Design:
Cross-sectional design of U.S. public health workforce at the agency level using 2019 National Association of County and City Health Officials (NACCHO) Profile and 2021 Public Health Workforce Interests and Needs Survey (PH WINS) data.

Setting:
Local health departments across the United States.

Participants:
The sample comprised 248 Local Health Departments (LHDs).

Main Outcome Measure(s):
The percent of the workforce with formal training in public health, percent of the workforce that identifies as women, percent of the workforce with 6 or more years of experience in public health practice, and percent of the workforce with 6 or more years of experience in their current agency.

Results:
Rural-serving LHDs had a greater staffing proportion of women, less formal public health training, and a smaller proportion of staff with 6 or more years of public health practice experience. Gender identity and formal public health training of the top executive of the LHD are correlated with staffing proportions on these measures.

Conclusions:
The local public health workforce composition varies by geography, agency characteristics, and characteristics of the jurisdiction served. Rurality and characteristics of the top executive of the LHD are correlated with the composition of the public health workforce.