bluuebunny/crossref_metadata_2025_split huggingface dataset:
Documentation Disputes in the Medical Record
Authors: Kirsch Rachel , Stadler Michael E. 
Published: August 2024

Abstract
The passing of the Health Insurance Portability and Accountability Act (HIPAA) of 1996 created national standards for the protection of an individual’s sensitive health information to provide patients with increased control over their personal health information (PHI). A parallel movement in medicine to digitize health records led to the universal adoption of various health information technology platforms, including electronic health records (EHR). The EHR has streamlined care and enhanced transparency, allowing patients to engage more actively with their own health information. However, much of the information in the EHR is entered by healthcare workers and therefore potentially liable to human error. Requesting an amendment to a medical record is a HIPAA-mandated patient right that all covered entities must respect. A patient’s PHI remains confidential and is only legally accessible to the patient, their designated representatives, and those directly involved in their care. In addition, proper documentation is important for patient safety because other providers caring for the patient depend on the accuracy of this information. Similarly, other institutions, such as health or life insurers, rely on this information to appropriately assess an individual’s overall health risks. Patients may therefore desire and request a change to their PHI within the EHR. Clinicians, hospitals, and health systems must know how to appropriately address these requests.
Goal-Directed and Habitual Behaviors
Authors: Hernandez Ledia F. , Obeso Ignacio 
Published: August 2024

Abstract
Driving a car, handwriting, and riding a bicycle are examples of the many human actions that have been established as instrumental through two fundamental behavioral selection mechanisms: the goal-directed system and the habitual system. There are segregated loops connecting brain region coding and involved in each of these behavioral domains. The brain regions involved in both kinds of behavior have been highly conserved from an evolutionary point of view. Habitual behavior has been retained across evolution and, in the case of certain adaptive responses, almost without alteration among species. This chapter reviews classical and recent studies that highlight the main mechanisms and brain networks supporting goal-directed and habitual behaviors across species, with a focus on evolutionary perspectives on important biological hierarchies. Finally, it raises the possibility that dopaminergic dysfunction in certain brain diseases (such as addiction and Parkinson’s disease) is associated with a pathological involvement of these critical behavioral control systems.
The Properties of Cortico-motoneuronal Connections and Their Evolutionary Significance for Amyotrophic Lateral Sclerosis
Authors: Lemon Roger N. 
Published: August 2024

Abstract
The evolutionary significance of amyotrophic lateral sclerosis (ALS) is apparent from the fact that it is a uniquely human disease. It is a disorder affecting both descending corticospinal projections and the motoneurons which they influence. Direct, cortico-motoneuronal projections from the motor cortex to the cranial and spinal motoneurons are a subdivision of the primate corticofugal and corticospinal systems and have been strongly implicated in ALS. This chapter will review the key structural and functional properties of the cortico-motoneuronal system, emphasizing the late evolutionary development of this system and its unique importance for human motor skills such as gesture and tool manufacture and tool usage. Studying the vulnerability of the cortico-motoneuronal system to ALS might help in understanding and even treating this devastating disease.
Williams Syndrome and Autism
Authors: August Isabel , Semendeferi Katerina 
Published: August 2024

Abstract
Certain human disorders, such as Williams syndrome (WS) and autism spectrum disorders (ASD), are known to affect social behaviors. WS is a rare neurodevelopmental disorder caused by deletion of approximately 25 genes on chromosome band 7q11.23, and WS individuals are typically described as hypersocial. ASD is a much more common group of heterogeneous disorders generally characterized by hyposociality. In WS total brain volume is decreased, while in ASD total brain volume is increased, in early development. Both disorders are characterized by microstructural changes throughout the brain, and this chapter focuses on changes in the prefrontal cortex and amygdala, regions which have been subject to recent evolutionary change in humans. This chapter reviews the neuroanatomical profiles of these two disorders in an evolutionary context before concluding with a brief discussion of how animal and stem cell models can be used to explore the cellular and molecular mechanisms underlying their neuroanatomical profiles.
Prenatal Diagnosis
Authors: Phillips Amber Mathiesen , Roy Kali Bogaard 
Published: August 2024

Abstract
Prenatal diagnosis is the term used to describe a set of tests that are designed to determine whether a specific genetic condition is present in a fetus. This chapter provides a detailed description of the procedures as well as the types of testing options available for prenatal diagnosis. The two techniques for prenatal diagnosis, amniocentesis and chorionic villus sampling, are described in detail, including their procedures, risks, limitations, and their use in twin/multiple gestations. The prenatal diagnosis testing options are also described in detail, including karyotype, fluorescence in situ hybridization (FISH), microarray, targeted testing, single-gene testing, panel testing, whole exome, and genome sequencing as well as alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) level testing. The chapter also includes images of karyotype, FISH, and microarray test results and reviews the indications for prenatal diagnostic testing.
Epilepsy and systemic disease
Authors: Dugan Patricia 
Published: August 2024

Abstract
This chapter examines the association of epilepsy with a diverse array of multiorgan diseases, particularly neurocutaneous disorders, connective tissue diseases, and systemic vasculitides. It reviews epilepsy in the setting of tuberous sclerosis complex, neurofibromatosis type 1, Sturge–Weber syndrome, systemic lupus erythematosus, Sjögren syndrome, scleroderma, Ehlers–Danlos syndrome, Wegener’s granulomatosis, Behçet’s disease, type 1 diabetes mellitus, and cardiovascular disease. The chapter also describes the possible shared underlying mechanisms responsible for both epilepsy and the varied systemic manifestations of these diseases, such as direct immunological effects on the brain, aberrant vasculature, and abnormal cell proliferation. Specific treatment strategies are also outlined, which may involve optimizing management of the underlying disorder.
Attention
Authors: Harris James C. , Coyle Joseph T. 
Published: August 2024

Abstract
Attention is the active or passive focusing of consciousness on the external world and the inner life. Attention is active when externally focused, and it is passive when focusing on the flow of internal events. Attention may be voluntary or involuntary. It is voluntary when effort is focused on an internal or external event by choice or intention, and it is involuntary when an event or object attracts attention without deliberate conscious choice or intentional effort. This chapter discusses the definition of attention and its characteristics; describes genes and attentional networks; reviews anatomic substrates for attention, summarizing development neuroimaging studies; considers attention and self-regulation in infancy and child development; discusses attention training in childhood; and reviews neurodevelopmental disorders characterized by attention deficits.
Temperament
Authors: Harris James C. , Coyle Joseph T. 
Published: August 2024

Abstract
Temperament is defined as constitutionally based individual differences in reactivity and self-regulation. Temperament describes the initial state from which personality develops and is essential to understanding the origins of personality development. The infant’s brain is not a blank slate at birth to be shaped by parenting; children differ from infancy and afterwards in their temperament. Neurobiologically, temperament links individual differences in behavior to underlying neural networks. This chapter reviews the role of temperament and personality in socioemotional development from a developmental perspective. The chapter includes a historical introduction to temperament and a review of various definitions of temperament. It addresses the effects of temperament on others, the neurobiology of temperament, temperament and cognition, and the assessment of temperament in children with developmental disabilities.
Autism Spectrum Disorder
Authors: Harris James C. , Coyle Joseph T. 
Published: August 2024

Abstract
From its beginnings, “autism” has been a term that focused on a neurodevelopmental disorder with deficits in social communication and restricted and repetitive patterns of behavior, interests, and activities. Recent developmental research has focused on deficits in social understanding, repetitive behaviors, affective development, social cognition, and interpersonal reciprocity. This chapter reviews the history, definition and classification, epidemiology, clinical features, etiologies (genetic and environmental), natural history, neurobiology, and treatment of autism spectrum disorders. It focuses on the spectrum of social communicative and social interaction deficits in autism spectrum disorder and examines the underlying neurobiology. The major emphasis is on social understanding and the development of social awareness and repetitive behavior from a neurobiological and a social interactional perspective.
Diverse Origins of Near-Identical Antifreeze Proteins in Unrelated Fish Lineages Provide Insights Into Evolutionary Mechanisms of New Gene Birth and Protein Sequence Convergence
Authors: Rives Nathan , Lamba Vinita , Cheng C H Christina , Zhuang Xuan 
Published: August 2024

Abstract
Determining the origins of novel genes and the mechanisms driving the emergence of new functions is challenging yet crucial for understanding evolutionary innovations. Recently evolved fish antifreeze proteins (AFPs) offer a unique opportunity to explore these processes, particularly the near-identical type I AFP (AFPI) found in four phylogenetically divergent fish taxa. This study tested the hypothesis of protein sequence convergence beyond functional convergence in three unrelated AFPI-bearing fish lineages. Through comprehensive comparative analyses of newly sequenced genomes of winter flounder and grubby sculpin, along with available high-quality genomes of cunner and 14 other related species, the study revealed that near-identical AFPI proteins originated from distinct genetic precursors in each lineage. Each lineage independently evolved a de novo coding region for the novel ice-binding protein while repurposing fragments from their respective ancestors into potential regulatory regions, representing partial de novo origination—a process that bridges de novo gene formation and the neofunctionalization of duplicated genes. The study supports existing models of new gene origination and introduces new ones: the innovation–amplification–divergence model, where novel changes precede gene duplication; the newly proposed duplication–degeneration–divergence model, which describes new functions arising from degenerated pseudogenes; and the duplication–degeneration–divergence gene fission model, where each new sibling gene differentially degenerates and renovates distinct functional domains from their parental gene. These findings highlight the diverse evolutionary pathways through which a novel functional gene with convergent sequences at the protein level can evolve across divergent species, advancing our understanding of the mechanistic intricacies in new gene formation.
Long-term effects on fertility after central nervous system cancer: A systematic review and meta-analysis
Authors: Pape Janna , Gudzheva Tanya , Beeler Danijela , Weidlinger Susanna , Vidal Angela , Furtwängler Rhoikos , Karrer Tanya , von Wolff Michael 
Published: August 2024

Abstract

Background
Central nervous system (CNS) cancer represents a common group of solid tumors in childhood and young adults, and less frequently in adults aged 30–40. Due to treatment advancements with increasing survival rates, disorders of the hypothalamus-pituitary axis have become increasingly relevant for patients’ future fertility plans. Most guidelines recommend that physicians should counsel their patients about fertility prognosis before initiating gonadotoxic therapy. However, for fertility preservation measures, gonadal toxicity as the only relevant risk factor has not yet been systematically reviewed.

Methods
A systematic literature search was performed in MEDLINE, Embase, and Cochrane in January 2024. The systematic review included studies of patients who had undergone treatment for all types of malignant CNS cancer. The outcomes were defined as clinically relevant gonadal toxicity as well as preserved fertility. The study adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines.

Results
The qualitative analysis included 31 studies with a total of 4590 patients after CNS cancer. The overall pooled prevalence of gonadal toxicity was found to be 20% (95% confidence intervals [CI]: 10%–34%). Preserved fertility was present in 75% (95% CI: 64%–83%) of the patients and was maintained after at least 5 years following treatment (75%, 95% CI: 46%–91%).

Conclusions
This initial meta-analysis provides a basis for fertility counseling after diverse CNS cancer treatments. Due to the high heterogeneity of the study population and lack of individual patient data on fertility outcomes, it is not possible to provide an exact estimation of the fertility prognosis following a specific treatment. Thus, fertility preservation measures should still be recommended.
Utility of Cerebrospinal Fluid Unstimulated Interferon-Gamma (IRISA-TB) as a Same-Day Test for Tuberculous Meningitis in a Tuberculosis-Endemic, Resource-Poor Setting
Authors: Randall Philippa , Mutsvangwa Junior , Nliwasa Marriott , Wilson Lindsay , Makamure Beauty , Makambwa Edson , Meldau Richard , Dheda Keertan , Munyati Shungu , Siddiqi Omar , Corbett Elizabeth , Esmail Ali 
Published: August 2024

Abstract

Background
Tuberculous meningitis (TBM) mortality is high and current diagnostics perform suboptimally. We evaluated the diagnostic performance of a DNA-based assay (GeneXpert Ultra) against a new same-day immunodiagnostic assay that detects unstimulated interferon-gamma (IRISA-TB).

Methods
In a stage 1 evaluation, IRISA-TB was evaluated in biobanked samples from Zambia (n = 82; tuberculosis [TB] and non-TBM), and specificity in a South African biobank (n = 291; non-TBM only). Given encouraging results, a stage 2 evaluation was performed in suspected TBM patients from Zimbabwe and Malawi (n = 668). Patients were classified as having definite, probable or possible TBM, or non-TBM based on their microbiological results, cerebrospinal fluid (CSF) chemistry, and whether they received treatment.

Results
In the stage 1 evaluation, sensitivity and specificity of IRISA-TB were 75% and 87% in the Zambian samples, and specificity was 100% in the South African samples. In the stage 2 validation, IRISA-TB sensitivity (95% confidence interval [CI]) was significantly higher than Xpert Ultra (76.2% [55.0%–89.4%] vs 25% [8.9%–53.3%]; P = .0048) when trace readouts were considered negative. Specificity (95% CI) was similar for both assays (91.4% [88.8%–93.4%] vs 86.9% [83.4%–89.8%]). When the Xpert Ultra polymerase chain reaction product was verified by sequencing, the positive predictive value of trace readouts in CSF was 27.8%. Sensitivity of IRISA-TB was higher in human immunodeficiency virus (HIV)–infected versus uninfected participants (85.8% vs 66.7%).

Conclusions
As a same-day rule-in test, IRISA-TB had significantly better sensitivity than Xpert Ultra in a TB/HIV-endemic setting. An immunodiagnostic approach to TBM is promising, and further studies are warranted.
Parametrized Post-Newtonian Test of Black Hole Spacetime for Galactic Center Massive Black Hole Sgr A*: Formulation and χ2 Fitting
Authors: Saida Hiromi , Matsui Sena A , Takeuchi Tsutomu T , Nishiyama Shogo , Saitou Rio , Takamori Yohsuke , Takahashi Masaaki 
Published: August 2024

Abstract
We have performed a parametrized post-Newtonian (PPN) test of a black hole spacetime using observational data of the star S0-2/S2 orbiting the massive black hole at our galactic center Sgr A$^{\ast \, }$. After introducing our PPN model of black hole spacetime, we report the result of $\chi ^2$ fitting of the PPN model with the observational data. A new finding through our PPN model is the detectability of the gravitational lens effect on the null geodesics connecting S0-2 and the observer under the present observational uncertainties, if a PPN parameter is about one order larger than the value for the general relativity case. On the other hand, the effect of black hole spin on S0-2’s motion is not detectable. Thus, our present PPN test is performed with spherically symmetric vacuum black hole spacetime. The resultant value of the PPN parameter, which corresponds to the minimum $\chi ^2$, implies that the gravitational field of Sgr A$^{\ast \, }$ is not of the Schwarzschild metric or that there exists a sufficient amount of dark matters around Sgr A$^{\ast \, }$ to be detected by present telescopes. However, the difference between the minimum $\chi ^2$ and the $\chi ^2$ of the Schwarzschild case is not large enough to ensure the statistical significance of the non-Schwarzschild result. A more precise statistical analysis than $\chi ^2$ statistics is necessary to extract statistically significant information on the gravitational field of Sgr A$^{\ast \, }$ from the present observational data. We will report a result by a Bayesian analysis in our next paper.
Enhancing the immunomodulatory osteogenic properties of Ti-Mg alloy by Mg2+-containing nanostructures
Authors: Liang Luxin , Lin Zhengjun , Duan Ziqing , Agbedor Solomon-Oshioke , Li Ning , Baker Ian , Wang Bing , Liu Tang , Wu Hong 
Published: August 2024

Abstract
Facilitating an appropriate immune response is crucial for promoting bone tissue regeneration upon biomaterial implantation. In this study, the Mg2+-containing nanostructures on the surface of Ti-1.25Mg alloy were prepared by a one-step hydrothermal reaction method via regulating pH value to enhance the immunomodulatory osteogenic properties of Ti-Mg alloys. In neutral (HT7) or alkaline (HT9) hydrothermal treatment (HT) solution, the size of MgTiO3 nanostructures formed on the surface of Ti-1.25Mg alloy is smaller than that in acidic HT solution (HT5), and lamellar Mg(OH)2 nanostructures are found in HT7 and HT9. In addition, the sample surface has a lower roughness and higher wettability with increasing pH value. The Mg2+-containing nanostructures on the Ti-1.25Mg alloy inhibited inflammatory response by promoting the polarization of M2 macrophages, thereby promoting osteogenesis in vitro. The micro-CT and histological assessment proved that the regeneration of bone defect was faster in HT7 than the Ti-1.25Mg in vivo. Mechanically, Mg2+-containing nanostructures can mediate the immune response of macrophages via upregulating integrins α5β1 and inhibiting Toll-like receptors (TLR-4), subsequently inhibiting the NF-κB signaling pathway. Overall, osteoimmunity-regulating Mg2+-containing nanostructures on Ti-1.25Mg present a promising biomaterial for bone repair.
Disease characteristics and medications use in idiopathic inflammatory myopathy: a multi-centre prospective observational study of decentralized remote vs. traditional clinic enrolment
Authors: Keret Shiri , Silva Raisa Lomanto , Chandra Tanya , Gkiaouraki Eugenia , Pongtarakulpanit Nantakarn , Sriram Shreya , Moghadam-Kia Siamak , Oddis Chester V , Aggarwal Rohit 
Published: August 2024

Abstract

Objectives
Idiopathic inflammatory myopathies (IIM) are rare and characterized by heterogeneous manifestations and clinical trajectories. Utilizing tele-research methods has the potential to improve participant recruitment and advance the understanding of the disease. We aimed to evaluate disease characteristics in IIM patients throughout the USA and compare these parameters between patients recruited remotely through mobile application or website vs those recruited locally in myositis clinics.

Methods
‘Myositis Patient Centered Tele-Research’ (My PACER) is a multicentre prospective observational study of US IIM subjects, competitively recruited through traditional in-person clinic visits [centre-based cohort (CBC)] and remotely using mobile application or website and social media [tele-research cohort (TRC)]. Data collection comprised baseline demographic and clinical variables, encompassing symptoms, organ involvement, diagnostic tests results and medication use.

Results
The study included 120 IIM patients, 82 in the TRC and 38 in the CBC. The average age was 55 ± 13.4, 75% females and 81% Caucasians. Both cohorts exhibited similar demographic characteristics. Overall, 41% dermatomyositis, 27% polymyositis, 23% anti-synthetase syndrome, and 9% necrotizing myositis patients were enrolled, with comparable subtypes prevalence among cohorts (P = 0.85). The groups demonstrated similarities in multiple clinical factors, including muscle enzymes, diagnostic delay, employment status, various patient and physician-reported outcomes, functional tests, and the frequency of abnormal findings in chest CT, pulmonary function tests and electromyography. TRC patients received biologics and csDMARDs more frequently (P &lt; 0.001 and P = 0.013, respectively).

Conclusion
Tele-research recruitment yielded a patient cohort resembling traditionally recruited patients demographically and clinically, indicating its effectiveness for robust and diverse patient recruitment in clinical studies.