bluuebunny/crossref_metadata_2025 huggingface dataset:
MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data
Authors: George-Sankoh Ibrahim , MacMullen Laura E , Chinwalla Asif T , Taylor Deanne , Ganetzky Rebecca D , Stanley Katelynn , McCormick Elizabeth M , Zolkipli-Cunningham Zarazuela , Falk Marni J
Published: November 2024

Objective

To describe a novel data integration workflow developed to automate clinical and research electronic health system data integration and harmonization from siloed sources for centralized access, visualization and analysis by clinicians and researchers in an end user-friendly customized analytic platform.

Materials and Methods

A centralized, semi-automated framework provides data provenance and user access to integrated data sources. Data models are implemented leveraging a centralized server (Alteryx) for high-level analytics including scheduling, integration, and modeling. Data are then sent to a secure Tableau instance for end-user visualization and interaction, with minimal software development required.

Results

MMFP-Tableau, named for its origin in the Mitochondrial Medicine Frontier Program (MMFP) at the Children’s Hospital of Philadelphia (CHOP), has advanced efforts to realize precision medicine by facilitating expert clinician and researcher end-user direct access to integrated, highly robust health system datasets. This scalable data solution enables translational researchers to link subject and cohort clinical and research parameters with research samples; enhances external biopharma collaborations for clinical trial design, subject recruitment, and data tracking; accelerates retrospective clinical cohort data analysis; and improves complex data visualization for clinicians and researchers.

Discussion

MMFP-Tableau promotes complex data integration, visibility, and advanced analytic capabilities to facilitate seamless multidisciplinary research, benefitting clinical care and research in rare disease patients and cohorts.

Conclusion

The MMFP-Tableau data platform integrates multiple data sources across various siloed data platforms to transform complex data into readily accessible datasets. This approach represents a generalizable workflow concept readily adaptable to implement across diverse fields of medicine.
Inference for big data assisted by small area methods: an application on sustainable development goals sensitivity of enterprises in Italy
Authors: Schirripa Spagnolo Francesco , Bertarelli Gaia , Summa Donato , Scannapieco Monica , Pratesi Monica , Marchetti Stefano , Salvati Nicola
Published: November 2024

In this study, we proposed a new method for estimating the sensitivity of enterprises in Italy to the United Nation’s sustainable development goals at the provincial level using web-scraping data (a nonprobability sample) because this value is not surveyed by the Italian National Institute of Statistics. The proposed method used a probability sample to reduce the selection bias of estimates obtained from the nonprobability sample in the context of small area estimation and integrated nonprobability and probability samples using a double robust estimator that combined (i) propensity weighting to improve the representativeness of the nonprobability sample and (ii) a statistical model to predict the units that were not in the nonprobability sample. A bootstrap procedure for estimating variance was also proposed. To validate the proposed method, a Monte Carlo simulation was performed. Results showed that the proposed method allowed the correction of bias from the nonprobability sample while maintaining a good level of estimate reliability.
Innovative modeling on the effects of low-temperature stress on rice yields
Authors: Shi Yanying , Ma Haoyu , Li Tao , Guo Erjing , Zhang Tianyi , Zhang Xijuan , Yang Xianli , Wang Lizhi , Jiang Shukun , Deng Yuhan , Guan Kaixin , Li Mingzhe , Liu Zhijuan , Yang Xiaoguang
Published: November 2024

The increasing frequency and intensity of low-temperature events in temperate and cold rice production regions threatens rice yields under climate change. While process-based crop models can project climate impacts on rice yield, their accuracy under low-temperature conditions has not been well evaluated. Our 6 year chamber experiments revealed that low temperatures reduce spikelet fertility from panicle initiation to flowering, grain number per spike during panicle development, and grain weight during grain filling. We examined the algorithms of spikelet fertility response to temperature used in crop models. The results showed that simulation performance is poor for crop yields if the same function was used at different growth stages outside the booting stage. Indeed, we replaced the algorithm for the spikelet fertility parameter of the ORYZA model and developed the function of estimated grain number per spike and grain weight. After that, the algorithm with improved equations was applied to 10 rice growth models. New functions considered the harmful effects of low temperatures on rice yield at different stages. In addition, the threshold temperatures of cold tolerance were set for different rice varieties. The improved algorithm enhances the ability of the models to simulate rice yields under climate change, providing a more reliable tool for adapting rice production to future climatic challenges.
Identification of Customary International Law
Authors: Wood Michael , Sender Omri
Published: November 2024

Customary international law remains a central source of international law and the core of the international legal system. It continues to draw the attention of lawyers, especially at a time marked by the great expansion of international law and its increasing application in domestic and international courts. Determining whether an applicable rule of customary international law exists is therefore of great practical concern – but this important legal task is not always simple or straightforward. This book serves as guidance to those seeking to determine the existence of rules of customary international law and their content. It elaborates on the methodology for the identification of rules of customary international law and examines a host of questions concerning the process and evidence involved. It does so by complementing the authoritative work of the UN International Law Commission on this topic, and by drawing upon a wealth of additional practice and writings. The book provides an overview of the Commission’s work and expands on it by addressing the nature and history of custom as a source of international law, inquiring into each of the two constituent elements of customary international law (namely, a general practice and opinio juris), explaining the value and limits of certain forms of evidence, and throwing further light on such issues as the persistent objector rule and particular customary international law. Practitioners and scholars alike will find this detailed treatment useful in seeking to determine the existence and content of any customary rule and in ensuring that arguments about customary international law are persuasive.
Custom as a Source of International Law
Authors: Wood Michael , Sender Omri
Published: November 2024

This chapter provides an overview of custom as a principal source of international law. It discusses customary international law’s long history as the older and original source of international law and the place secured for it in the Statute of the International Court of Justice. It also explains the continuing importance of customary international law in the present era, even in highly codified fields, as well as its great advantages in being able to evolve rapidly when the need arises and to bring under one legal regime all members of a large and heterogeneous international community. The chapter moreover discusses the limits of analogy with custom in domestic law, the relationship between customary international law and ‘the general principles of law’, and the availability of evidence of customary international law. customary international law
The International Law Commission’s Work on Identification of Customary International Law
Authors: Wood Michael , Sender Omri
Published: November 2024

This chapter discusses the work of the International Law Commission (ILC) on ‘Identification of customary international law’, detailing the various stages leading up to the adoption of the Commission’s final draft conclusions on the topic. The chapter then elaborates on the reception of this output by the Member States of the United Nations and offers an assessment of its impact and utility in providing authoritative guidance to all those who are called upon to determine rules of customary international law. customary international law
The Two-element Approach
Authors: Wood Michael , Sender Omri
Published: November 2024

This chapter elaborates on the two-element approach to the determination of rules of customary international law. It demonstrates that this approach, which provides a uniform yet flexible methodology for the identification of all rules of customary international law, is deeply rooted in international legal practice, including that of the International Court of Justice (ICJ). The chapter moreover explains that alternative approaches proposed by individual writers are essentially policy proposals that have not been adopted by States or in the case law. The process of change of customary international law is also discussed, as is the controversial notion ‘interpretation’ of customary international law.customary international law
Particular Customary International Law
Authors: Wood Michael , Sender Omri
Published: November 2024

This chapter focuses on rules of customary international law that are not of general application but are applicable among some States only. It explains the place and scope of these rules of particular customary international law, including by reference to several cases before courts and tribunalst in which such rules have been invoked; it also notes that these rules may not necessarily be based on a geographical relationship. The chapter further discusses the stricter application of the two-element approach as regards rules of particular customary international law as well as the burden of proof that is laid upon those who seek to rely on them.
Compact object populations over cosmic time II. Compact object merger rates and masses over redshift from varying initial conditions
Authors: de Sá Lucas M , Rocha Lívia S , Bernardo Antônio , Bachega Riis R A , Horvath Jorge E
Published: November 2024

We perform a first study of the impact of varying two components of the initial conditions in binary population synthesis of compact binary mergers – the initial mass function, which is made metallicity- and star formation rate-dependent, and the orbital parameter (orbital period, mass ratio, and eccentricity) distributions, which are assumed to be correlated – within a larger grid of initial condition models also including alternatives for the primary mass-dependent binary fraction and the metallicity-specific cosmic star formation history. We generate the initial populations with the sampling code bossa and evolve them with the rapid population synthesis code compas. We find strong suggestions that the main role of initial conditions models is to set the relative weights of key features defined by the evolution models. In the two models we compare, black hole–black hole (BHBH) mergers are the most strongly affected, which we connect to a shift from the common envelope to the stable Roche lobe overflow formation channels with decreasing redshift. We also characterize variations in the black hole–neutron star (BHNS) and neutron star–neutron star (NSNS) final parameter distributions. We obtain the merger rate evolution for BHBH, BHNS, and NSNS mergers up to $z=10$, and find a variation by a factor of $\sim 50\textnormal {--}60$ in the local BHBH and BHNS merger rates, suggesting a more important contribution from initial conditions than previously thought, and calling for a complete exploration of the initial conditions model permutations.
Alternative lengthening of telomere-based immortalization renders H3G34R-mutant diffuse hemispheric glioma hypersensitive to PARP inhibitor combination regimens
Authors: Laemmerer Anna , Lehmann Christian , Mayr Lisa , Bruckner Katharina , Gabler Lisa , Senfter Daniel , Meyer Philipp , Balber Theresa , Pirker Christine , Jaunecker Carola N , Kirchhofer Dominik , Vician Petra , Griesser Michelle , Spiegl-Kreinecker Sabine , Schmook Maria T , Traub-Weidinger Tatjana , Kuess Peter , Eckert Franziska , Federico Aniello , Madlener Sibylle , Stepien Natalia , Robl Bernhard , Baumgartner Alicia , Hainfellner Johannes A , Dieckmann Karin , Dorfer Christian , Roessler Karl , Corsini Nina S , Holzmann Klaus , Schmidt Wolfgang M , Peyrl Andreas , Azizi Amedeo A , Haberler Christine , Beck Alexander , Pfister Stefan M , Schueler Julia , Lötsch-Gojo Daniela , Knoblich Jürgen A , Berger Walter , Gojo Johannes
Published: November 2024

Background

Diffuse hemispheric glioma, H3 G34R/V-mutant (DHG-H3G34) is characterized by poor prognosis and lack of effective treatment options. DHG-H3G34R further harbor deactivation of alpha-thalassemia/mental retardation syndrome X-linked protein (ATRX; DHG-H3G34R_ATRX) suggesting a unique interaction of these 2 oncogenic alterations. In this study, we dissect their cell biological interplay, investigate the impact on telomere stabilization, and consequently validate a targeted therapy approach.

Methods

We characterized patient-derived primary pediatric high-grade glioma (pHGG) models for telomere-maintenance mechanisms, DNA damage stress (including protein expression, pH2AX/Rad51 foci, cell-cycle arrest) and their sensitivity towards poly-ADP ribose polymerase inhibitor (PARPi) combinations. Human induced pluripotent stem cells (iPSCs) were used for modeling the disease. The anticancer activity of PARPi combinations in vivo was studied in Chorioallantoic Membrane (CAM) and orthotopic in vivo experiments. Finally, we treated a DHG-H3G34R_ATRX patient with PARPi combination therapy.

Results

We elaborate that alternative lengthening of telomeres (ALT) is a key characteristic of DHG-H3G34R_ATRX. A dominant cooperative effect between H3G34R and ATRX loss in ALT activation also became apparent in iPSCs, which endogenously exert telomerase activity. In both, patient-derived DHG-H3G34R_ATRX models and H3G34R+/ATRX- iPSCs, the ALT-phenotype was associated with increased basal DNA damage stress, mediating synergistic susceptibility towards PARPi (talazoparib, niraparib) combinations with topoisomerase-I inhibitors (topotecan, irinotecan). In a first-of-its-kind case, treatment of a DHG-H3G34R_ATRX patient with the brain-penetrant PARP inhibitor niraparib and topotecan resulted in significant tumor reduction.

Conclusions

Our preclinical and clinical data strongly support the further development of PARPi together with DNA damage stress-inducing treatment regimens for DHG-H3G34R_ATRX.
Moral uncertainty for consequentialists
Authors: Bukoski Michael
Published: November 2024

How might an agent's moral uncertainty affect what they ought to do? One approach posits principles independent of all first-order moral theories to provide impartial guidance to those uncertain about which moral theory is true; a popular candidate is the principle of maximizing expected choiceworthiness (MEC). Another approach focuses on what first-order moral theories themselves might say about the moral implications of moral uncertainty. This paper considers the latter question in the context of consequentialism by exploring how two consequentialist strategies for dealing with non-moral uncertainty could be extended to moral uncertainty. My conclusion is that a consequentialist could plausibly adopt maximizing expected goodness as a standard of rightness, but not MEC, and that neither is likely to be part of the best consequentialist decision procedure. This result refutes the common suspicion that MEC represents a distinctively consequentialist approach to moral uncertainty.
Virtual Reality Therapy for Chronic Pain: A Scoping Review on Indications, Mechanisms of Action, and Effectiveness
Authors: Kim Richard W. , Chitneni Ahish , Rubin John Edwin , White Robert , Jotwani Rohan
Published: November 2024

Background:

The application of virtual reality (VR) technology as a nonpharmacologic treatment option for chronic pain has been increasingly studied. However, the mechanisms underlying this treatment modality's potential positive effects and appropriate indications are not well understood or summarized in the literature.

Objectives:

This scoping review aims to better understand the chronic pain populations best indicated for head-mounted display-based VR interventions, explore their efficacy on pain score reduction, and characterize the mechanisms of action underlying their efficacy.

Methods:

PubMed database systematic searches were conducted including articles from January 2010 to August 2023 with primary qualifying criteria including but not limited to use of head-mounted display VR and adequate VR treatment dosage. Mechanisms of action(s) were deduced via an exploratory approach whereby characteristics of VR treatment interventions were analyzed and categorized.

Results:

Fourteen studies met qualifying criteria, representing a total treatment group of 327. Study data extracted were solely relative to VR treatment group participants. VR intervention mechanisms of action were best characterized via 2 broad but distinct categories: addressing kinesiophobia and psychobehavioral modulation. Three studies investigating chronic neck pain used addressing kinesiophobia as a mechanism of action and demonstrated a significant improvement [weighted average numerical rating scale (NRS): 4.6 at baseline, 2.5 post-intervention, and 2.5 3 months post-intervention]. Six studies investigated chronic low back pain, for which 5 studies, representing 99% of the subgroup, used psychobehavioral modulation. Each demonstrated significant reduction in pain (weighted average NRS: 5.1 baseline and 3.2 post-intervention).

Conclusion:

This large-scale within-group analysis review proposes 2 broad mechanisms of action underlying the efficacy of VR interventions for chronic pain indications. VR interventions addressing kinesiophobia seem to be significantly effective in nontraumatic chronic neck pain patients. Psychobehavioral VR interventions demonstrate significant efficacy in the chronic low back pain population. Studies with interventions targeting nonspecific chronic pain populations did not show significant results.
How Does the Novice Become the Expert? An Instrumental Case Study of Procedural Educators
Authors: Krumm Ilana Roberts , Strait Adrienne , Santhosh Lekshmi
Published: November 2024

Purpose

The classic paradigm of procedural education in medical training has involved trainees learning and performing invasive bedside procedures and subsequently teaching these procedures to more junior trainees. Many existing resident-as-teacher curricula focus on cognitive domains; there has been a lack of literature examining the transition from learner to teacher in procedural education. This hypothesis-generating instrumental case study explored how expert procedural educators transitioned from novice procedural educators to experts.

Method

A constructivist approach with semistructured interviews was used to explore the individual narratives and experiences of faculty of the Hospitalist Procedure Service at the University of California San Francisco as they reflected on their journey from learners to teachers, focusing on the faculty of the hospitalist procedure team at the University of California San Francisco. All 12 Hospitalist Procedure Service faculty members received invitations to be interviewed, and 9 agreed to participate. Interviews were conducted between July and October 2023.

Results

The 9 interviews created a rich and complex picture of the individual experiences and perceptions of procedural teaching. The faculty members varied in experience, ranging from 2 years on the procedure service faculty to more than 15 years of experience. Four main themes emerged from the interviews: methods for building teaching skills, tools that facilitate further educator growth, essential behaviors of effective educators, and common challenges. Inductive thematic analysis revealed trial and error as a major means of building procedural pedagogy and the use of precise communication as a crucial skill to manage learner cognitive load and the emotional challenges associated with learning and teaching procedures.

Conclusions

The use of precise communication as a tool for both educator and learner to navigate the complexities of procedural teaching highlights the essential role of clear instruction and feedback in the learning process.
Unveiling Potential: Achieving Mission by Integrating Enrollment Management With Identity-Masked Holistic Admissions Practices
Authors: Bryce Crystal I. , Abron Gisele Armond , Lynn Amanda M. , Willis Brigham C. , Nakae Sunny
Published: November 2024

Purpose

Holistic review for admissions is designed to mitigate the common systemic barriers applicants may face in their medical school application journey and the common mistakes committed by admissions committees, but limited literature outlines how this can be modeled. This study examined a blinded holistic admissions approach that emphasized mission and value alignment and the resulting characteristics of applicants by admission status.

Method

Application data from 2,027 applicants to The University of Texas at Tyler School of Medicine with complete secondary applications for the 2022 to 2023 cycle were analyzed. Applicants were categorized by the most advanced stage they reached in the admissions process: not selected for interview (n = 1,742), interviewed (n = 239), or accepted (n = 46). Data included information on students' geographic ties to East Texas, institutional mission alignment, academic preparation information, and Computer-Based Assessment for Sampling Personal Characteristics (CASPer) test results.

Results

In the not selected for interview and interviewed groups, mission commitment was significantly negatively associated with geographic ties (r = –0.189 and –0.209., respectively) and academic preparation (r = –0.195 and –0.241, respectively). In the not selected for interview group, higher mission commitment scores were significantly associated with lower CASPer scores (r = –0.110). In the interviewed group, higher geographic ties were significantly associated with lower academic preparation (r = –0.143) and lower CASPer scores (r = –0.280). Demographically, the accepted group had higher than expected counts of individuals who reported free or reduced lunch eligibility (14 vs 8), Pell Grant eligibility (22 vs 12), and family incomes of less than $50,000 per year (14 vs 6).

Conclusions

This study demonstrates successful and effective implementation of a mission-aligned holistic admissions process, with accepted students exemplifying the mission of the institution and representing traditionally underrepresented groups.
The Expanding Role of Designated Institutional Officials in Graduate Medical Education
Authors: Berns Jeffrey S. , Goldstein Joshua L. , Hartmann Diane M. , Simons Kenneth , Opas Lawrence
Published: November 2024

The Accreditation Council for Graduate Medical Education (ACGME) plays a pivotal role in ensuring the quality of graduate medical education (GME) training across the United States. Central to the success of this mission are designated institutional officials (DIOs), who usually serve as chief GME officers within the ACGME-accredited sponsoring institutions (SIs). Despite the critical role of DIOs, the qualifications, level of administrative support, and responsibilities of DIOs are not defined and vary significantly among SIs. Although responsibilities mandated by ACGME Institutional Requirements provide a framework, the actual scope of work of DIOs often extends far beyond what is outlined in the ACGME Institutional Requirements, involving collaboration with a wide variety of institutional stakeholders and harnessing the GME enterprise to achieve institutional goals. Nearly all DIOs face a multitude of challenges, including adapting to new ACGME requirements and initiatives, addressing resident and fellow wellness concerns, promoting health equity, nurturing scholarly endeavors, and advocating for their residents and fellows. Additionally, emerging technologies and innovations as well as the changing financial climate for SIs and the health care facilities that host GME learners can present both educational opportunities and new challenges for DIOs in ensuring trainees are prepared for their roles as the next generation of physicians. As the health care landscape evolves, DIOs will continue to play a vital role in shaping the educational experiences of physicians in training while balancing institutional priorities and ensuring high-quality patient care.
Using the PROMOTE Screener to Identify Psychosocial Risk Factors for Prenatal Substance Use
Authors: Azeem Ayesha , Lobel Marci , Heiselman Cassandra , Preis Heidi
Published: November 2024

Introduction

There is an urgent need to improve the identification of psychosocial vulnerabilities in clinical practice (eg, stress, unstable living conditions) and examine their contribution to prenatal substance use, especially for legal substances such as alcohol, tobacco, and recently, cannabis.

Methods

We conducted a retrospective chart review of 1842 patients who completed the PROMOTE screening instrument during their first prenatal visit to outpatient clinics of a New York State health system in 6/2019–11/2020. The PROMOTE includes 18 core items to assess psychosocial vulnerabilities including the NIDA Quick Screen assessing past year substance use. Outcomes were tobacco, cannabis, and alcohol use during pregnancy based on electronic medical record abstraction including clinical notes, self-report, or urine toxicology.

Results

A total of 188 (10.2%) patients used at least 1 substance prenatally, including 132 (7.2%) tobacco, 50 (2.7%) cannabis, and 45 (2.4%) alcohol. Two of the NIDA Quick Screen items (past year tobacco use and past year illegal drug use) were associated in the bivariate analysis with greater use risk of all 3 substances. Additional risk factors uniquely associated with specific prenatal substance use variables include low education predicting tobacco use (adjusted odds ratio [AOR] = 2.74, 95% confidence interval [CI] = 1.43–5.23), being unpartnered predicting cannabis use (AOR = 3.37, 95% CI = 1.21–9.39), and major life events predicting alcohol use (AOR = 3.25, 95% CI = 1.439–7.38).

Conclusions

Utilizing brief psychosocial self-screening instruments such as the PROMOTE can help identify and refer at-risk patients to appropriate care. Particular attention should be paid to life context including partner support, emotional health, stress, and past year substance use.
Anatomy of the Ribs, Sternum, and Costal Margin
Authors: Haase Douglas R. , Shaikh Humza S.
Published: November 2024

The ribs, sternum, and costal margin provide a rigid, but flexible chest wall that functions to provide protection to the vital cardiothoracic organs, while also allowing for varying levels of respiration based on physiologic need. The latter function is accomplished through various muscular attachments and rib articulations with both the axial spine posteriorly and the sternum anteriorly. The accessory muscles of inspiration rely on the downward slope and outward curve of each rib, which when contracted move the ribs upward and outward, in turn forcing the sternum anterior and increasing the thoracic volume. Ribs are also classified as true, false, or floating based on their attachment anteriorly to the costal cartilage and sternum. Ribs 1–7 are considered true ribs as their costal cartilage directly articulates with the manubrium and sternum. Ribs 8–10 are considered false ribs because their costal cartilage connects to the cartilage of the immediately superior rib instead of the sternum itself. This complex cartilaginous structure is referred to as the costal margin, which provides attachments for the diaphragm and various abdominal muscles. Although historically thought to be a consistent structure, its variable nature has recently been defined in cadaveric studies. Ribs 11 and 12 are considered floating ribs because they have rudimentary cartilage caps and are not attached to the sternum at all. The sternum comprises the manubrium, body, and xiphoid process. Each component has differing mobility, muscle attachment, and function.
Pediatric Scaphoid Nonunions: Does Insurance Status Play a Role?
Authors: Lin James S. , MacDonald James , Balch Samora Julie
Published: November 2024

Objective:

There are no studies that evaluate the effects that insurance or socioeconomic status may have on treatment and outcomes of scaphoid nonunions in children. We evaluated whether there is an association between insurance status and (1) time from injury to hand surgeon evaluation, (2) time from specialist evaluation to surgery, and (3) postoperative outcomes of scaphoid fracture nonunions in children.

Methods:

A chart review was performed for patients who underwent surgical treatment of scaphoid fracture nonunion from January 2015 and April 2021 at a large tertiary care pediatric hospital. Underinsured patients were defined as those with no medical insurance or Medicaid/state-funded insurance.

Results:

There were 21 privately insured patients and 17 patients who were underinsured. There was no difference in age, race, or fracture characteristics between the two groups. The mean time between injury and hand surgeon evaluation was 192 SD 195 days for the privately insured group compared with 155 SD 205 days for the underinsured group (P = 0.57). The mean time between specialist evaluation and surgical treatment was 35 SD 54 days for the privately insured group and 31 SD 31 days for the underinsured group (P = 0.82). Union was achieved in 80% of patients with private insurance compared with 88% of underinsured patients after primary surgery (P = 0.67). There was no difference detected in the proportion of patients who had residual pain (15% vs 19%), range of motion deficits (38% vs 40%), strength deficit (6% vs 7%), and return to activity (94% vs 93%) between privately insured and underinsured patients, respectively (P = 1.00).

Conclusions:

There was no difference in time from injury to specialist evaluation, time from evaluation to surgery, or postoperative outcomes based on insurance status for pediatric patients with scaphoid fracture nonunions. Although insurance status was not associated with access to care for pediatric scaphoid fracture nonunions at our institution, this information may not be generalizable to other populations, including patients who sustain primary scaphoid fractures and who have not yet developed nonunions.

Level of Evidence:

Level III—retrospective cohort study.
Precision and Sensitivity
Authors: Kumar Vishal , Barik Sitanshu , Raj Vikash , Varikasuvu Sheshadri Reddy
Published: November 2024

The adequacy of the literature search is one of the critical domains that affect the quality of the systematic review. The aim of a literature search in the systematic review should be to obtain thorough, comprehensive, transparent, and reproducible results. Precision (also called “positive predictive value”) and sensitivity (also called “recall”) have been postulated as 2 markers for rating the quality of literature search in systematic reviews. The reporting of such measures shall help in improving the relevance, transparency, reproducibility, and comprehensibility of the search. A search strategy that maximizes sensitivity with reasonable precision shall improve the quality of the review.
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature
Authors: Mensch Alexander , Jordan Berit , Weis Joachim , Nikolin Stefan , Schneider Ilka , Abicht Angela , Gehling Stefanie , Kendzierski Thomas , Stoltenburg-Didinger Gisela , Stoevesandt Dietrich , Kraya Torsten , Zierz Stephan , Naegel Steffen
Published: November 2024

Background:

Pathogenic variants in the nonmuscle myosin, MYH14, have been associated with several pathologic conditions including a complex phenotype with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Since its first description in a large Korean kindred, this rare neuromuscular disorder has further been characterized in 1 American and 1 Canadian pedigree.

Case presentation:

Here, we describe a German patient with atypical MYH14-related neuromuscular disorder. The clinical phenotype included signs of a distal myopathy with early respiratory involvement and a prominent hoarseness and peripheral neuropathy. In contrast to previous reports, no relevant deafness was identified. Muscle biopsy indicated a vacuolated myopathy with excessive autophagy, whereas histology of the sural nerve showed signs of a mixed axonal-demyelinating neuropathy. Next-generation sequencing revealed a loss-of-function variant not identified so far in the MYH14 gene (c.4510del, p.[Arg1504Glyfs*10]). Because of rapid disease progression with respiratory failure, the patient died at the age of 52.

Conclusions:

We present a novel MYH14 variant resulting in a severe and rapidly progressive MYH14-associated phenotype with predominantly distal myopathy, early respiratory failure, dysphagia, hoarseness, and peripheral neuropathy, without hearing loss. This case expands the clinical spectrum of MYH14-related neuromuscular disorders by providing a new clinical phenotype and disease course and histopathologic features.
Autoantibody-Based Clinicoradiopathologic Phenotyping of Idiopathic Inflammatory Myopathies: An Indian Cohort
Authors: Santhappan Girija Manu , Vengalil Seena , Kulanthaivelu Karthik , Menon Deepak , Nashi Saraswati , Sreerangappa Sridhar , Tiwari Ravindu , Samim MM , Baskar Dipti , Nandeesh Beevinahalli , Rao Shilpa , Mahadevan Anita , Nalini Atchayaram
Published: November 2024

Objectives:

We aim to characterize the clinical, pathological, laboratory and imaging features of various antibody defined IIM subgroups in Indian population.

Methodology:

103 patients who satisfied 2017 ACR/ EULAR Classification criteria for IIM, and tested seropositive for myositis antibodies using Immunoblot technique were retrospectively identified. Patients were classified into following subgroups – Mi2B group, SRP group, Anti RNA Synthetase antibody group (Jo 1, PL 7, PL 12, OJ), multiple MSA, only MAA group (U1RNP, Ro 52, SS-A, SS-B, PM Scl 75, PM Scl 100). Clinical, laboratory, histopathology and imaging parameters were compared among different groups.

Results:

Ro52 (n = 31; 22.46%) was the most common autoantibody seen in our cohort followed by Mi2B (n = 26; 18.84%) and SRP (n = 20; 14.49%). Skin manifestations (p = 0.053) and joint involvement (p = 0.023) were seen more frequently among Mi2B and MAA sub groups. Three out of 4 patients with persisting antibody positivity on serial measurements developed clinical relapse between 2 and 3 years after the initial episode. Remaining 2 patients showed declining titres of antibodies and developed no clinical relapses during follow up period of 5 and 6 years. Among histopathology features, perifascicular atrophy was found to be more prevalent among Mi2B (55.6%) and MAA subgroups (31.3%) (p value = 0.037). In thigh muscle MRI, Mi2B group showed a pattern of diffuse involvement of affected muscles without regional preference, with sparing of hamstring group. SRP group showed characteristic pattern of edema involving peripheral regions of Quadriceps femoris and central regions of Adductor group along with severe atrophy involving hamstring and adductor compartment muscles. ILD was seen in 27.5% of patients who underwent CT Chest. 3 patients were found to have underlying malignancy at the time of diagnosis of myositis (Mi2B = 2 and PM Scl = 1).

Conclusion:

Classification of IIM patients based on myositis antibodies yields subgroups with certain differences in clinical, laboratory, histopathological and imaging features.
PRAME Immunostaining in BAP-1-Inactivated Melanocytic Tumors: Unraveling Diagnostic Complexity and Exploring Germline Mutation Associations
Authors: Machuca-Aguado Jesús , López-Prieto Ana , Mora-Díaz Rodrigo , Gutiérrez-Domingo Álvaro , Garrido-Ruiz María , Rodríguez-Peralto José Luis , Ríos-Martín Juan José
Published: November 2024

Background:

Cutaneous melanocytic tumors with BAP-1 inactivation (BIMTs), linked to mutations in the BAP-1 gene, present diagnostic challenges due to their morphological similarities with other melanocytic lesions. The search for reliable diagnostic markers, including PRAME, holds potential to significantly improve the accuracy of differential diagnoses.

Methods:

A retrospective analysis of 32 BIMTs from 25 patients, collected between 2018 and 2022, involved histologic examination and immunostaining for BAP-1 and PRAME.

Results:

Positive PRAME expression, defined as diffuse staining in at least 75% of nevic cells, was observed in 19% of cases. Variations in PRAME expression patterns were noted, particularly in biphasic lesions and those associated with germline BAP-1 mutations.

Conclusions:

The diagnostic complexities of BIMTs necessitate a comprehensive diagnostic strategy. While BAP-1 immunostaining remains pivotal, this study explored PRAME as a potential adjunctive diagnostic tool. PRAME antibody shows highly variable expression in BIMTs, limiting its utility as a supportive tool for the differential diagnosis with melanomas, especially in patients with biphasic lesions and germline mutations in BAP-1.
Conceptual Contextualization of Neutrophilic Dermatoses
Authors: Fernandez-Flores Angel
Published: November 2024

Neutrophilic dermatoses are defined as inflammatory skin diseases characterized by sterile infiltration of polymorphonuclear neutrophils into various cutaneous layers. Although, in many cases, neutrophilic dermatoses represent the cutaneous counterpart of autoinflammatory diseases, this is not always the case, and there are other causes associated with this group of diseases, such as the administration of certain drugs or an underlying tumor. However, understanding the autoinflammatory context in which most of these entities develop, as well as their close relationship with autoimmunity, is key to comprehending their pathogenesis. In addition, understanding the mechanisms by which neutrophils migrate to the dermis and become activated is fundamental for interpreting the morphological findings of these biopsies. Finally, the description of a new group of neutrophilic dermatoses in recent years, in relation to keratinization disorders, has been crucial for understanding the best therapeutic approach for these difficult-to-manage entities.
The Initial Exploration of Polidocanol Sclerotherapy for the Treatment of Axillary Osmidrosis: A Retrospective Study
Authors: Yao Sunyuan , Cai Yantao , Zhu Chenfang
Published: November 2024

BACKGROUND

Axillary osmidrosis (AO) is a strong, unpleasant odor that originates from the apocrine axillary glands. Treatments of AO include surgical treatment and nonsurgical treatment. The surgical procedure yields effective results with a low recurrence rate but requires a longer recovery time and has more postoperative complications. Nonsurgical treatments are minimally invasive and safe, but short-term recurrence may occur in some cases.

OBJECTIVE

Polidocanol sclerotherapy was first described for management of AO. This retrospective study explored the clinical efficacy in relieving symptom of AO assessed by AO severity using the axillary osmidrosis grading system and safety of polidocanol sclerotherapy in treating AO.

PATIENTS AND METHODS

This retrospective study included 25 patients with AO single-site study, with 12 patients receiving polidocanol (1%) sclerotherapy (the polidocanol group) and 13 receiving botulinum toxin A (BTX-A) injection (the BTX-A group). The short-term efficacy (7 days after injection), the long-term efficacy (6 months after injection), the recurrence rate, and complications were compared between the 2 groups. A p-value of <0.05 was considered statistically significant.

RESULTS

The short-term efficacies of polidocanol sclerotherapy and BTX-A injection were 100% and 69.2%, which was not clinically significant (p > .05), whereas their long-term efficacies were 100% and 46.2%, respectively (p < .05). The recurrence rates in the polidocanol and BTX-A groups were 25.0% and 84.6%, respectively (p < .05). The complications did not differ significantly between the 2 groups (p > .05). Although the short-term efficacy and complications were comparable between the 2 groups, the long-term efficacy of polidocanol sclerotherapy was superior to BTX-A injection. The polidocanol group has a lower recurrence rate than the BTX-A group.

CONCLUSION

Polidocanol sclerotherapy may provide an effective and safe treatment with longer efficacy compared to toxin, which is an effective and safe option for AO treatment.
Multicenter, randomized controlled trial of EUS-guided fine-needle biopsy using a fork-tip needle with macroscopic or rapid on-site evaluation for pancreatic lesions (H2O trial)
Authors: Ogura Takeshi , Hijioka Susumu , Hara Kazuo , Nishioka Nobu , Okuda Atsushi , Ueno Saori , Nishikawa Hiroki , Yamada Masanori , Nagashio Yoshikuni , Hisada Yuya , Murashima Yumi , Takeshita Kotaro , Haba Shin , Kuwahara Takamichi , Okuno Nozomi
Published: November 2024

Background and Objectives

According to previous reports, EUS–fine-needle biopsy (FNB) with or without rapid on-site evaluation (ROSE) showed the nonsuperiority of EUS-FNB + ROSE over EUS-FNB. However, previous studies included various kinds of FNB needle. This might be a critical limitation due to heterogeneity. Therefore, the aim of the present multicenter, randomized controlled trial was to compare the diagnostic accuracy of the fork-tip needle with or without ROSE for pancreatic lesions.

Methods

In the ROSE group, if an adequate sample was obtained to diagnose by on-site evaluation, EUS-FNB was stopped. If cytological results were insufficient or indeterminate, EUS-FNB was repeated. In the macroscopic on-site evaluation (MOSE) group, if a 4-mm length of visible core tissue was obtained, EUS-FNB was finished. If visible core tissue was not obtained or was less than 4 mm in length, a second puncture was attempted.

Results

One hundred seventy-one patients were randomized, 85 to the ROSE group and 86 to the MOSE group. In the MOSE group, diagnostic sensitivity and accuracy were 94.4% and 91.8%, respectively, for visible core tissue and 80.6% and 70.0%, respectively, for red tissue. Finally, overall diagnostic sensitivity and accuracy were 97.1% and 95.3%, respectively, in the ROSE group and 95.8% and 95.3%, respectively, in the MOSE group. Although there were no significant differences regarding adverse events between groups, the mean number of punctures was significantly lower in the MOSE group than in the ROSE group (1.47 vs. 1.20, P = 0.0171).

Conclusions

EUS-FNB using a fork-tip needle for pancreatic lesions has high diagnostic yield even without ROSE.
Pectoralis Major and Abdominis Rectus Musculocutaneous Flap Reconstruction for Sternal Wound Closure in Ectopia Cordis
Authors: Bautista Catherine H. , Chen Joanna , Ormiston Laurel , Moore Zachary J. , Husain Adil , Gociman Barbu
Published: November 2024

Ectopia cordis is a rare congenital condition resulting in extrathoracic positioning of the heart. The severity of presentation may vary with partial or complete displacement through sternal or diaphragmatic defects. Operative management is typically required, but due to the rarity of the condition, no standard exists for optimal closure. Reconstruction techniques can include compound local flap placement including pectoralis major, rectus abdominis, or latissimus dorsi flaps as well as synthetic material placement, autologous bone, and cartilage grafts to correct sternal deformity. This case report outlines the successful utilization of bilateral composite pectoralis major and rectus abdominal musculocutaneous flaps for complex staged closure of a sternal wound after creation of a cavopulmonary anastomosis in a 5-year-old patient with concomitant single-ventricle congenital heart disease. This single-staged closure after cardiac repair was performed without intra- or postoperative complications, and the patient demonstrated satisfactory healing with stable cardiac coverage at follow-up visit. This technique may present as an effective approach in complex sternal wound closure in patients with ectopia cordis.
Core Components of Cardiac Rehabilitation Programs: 2024 Update: A Scientific Statement From the American Heart Association and the American Association of Cardiovascular and Pulmonary Rehabilitation
Authors: Brown Todd M. , Pack Quinn R. , Beregg Ellen A. , Brewer LaPrincess C. , Ford Yvonne R. , Forman Daniel E. , Gathright Emily C. , Khadanga Sherrie , Ozemek Cemal , Thomas Randal J.
Published: November 2024

The science of cardiac rehabilitation and the secondary prevention of cardiovascular disease has progressed substantially since the most recent American Heart Association and American Association of Cardiovascular and Pulmonary Rehabilitation update on the core components of cardiac rehabilitation and secondary prevention programs was published in 2007. In addition, the advent of new care models, including virtual and remote delivery of cardiac rehabilitation services, has expanded the ways that cardiac rehabilitation programs can reach patients. In this scientific statement, we update the scientific basis of the core components of patient assessment, nutritional counseling, weight management and body composition, cardiovascular disease and risk factor management, psychosocial management, aerobic exercise training, strength training, and physical activity counseling. In addition, in recognition that high-quality cardiac rehabilitation programs regularly monitor their processes and outcomes and engage in an ongoing process of quality improvement, we introduce a new core component of program quality. High-quality program performance will be essential to improve widely documented low enrollment and adherence rates and reduce health disparities in cardiac rehabilitation access.