bluuebunny/crossref_metadata_2025_split huggingface dataset:
Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity
Authors: Dalski Andreas , Pauly Martje G. , Hanssen Henrike , Hagenah Johann , Hellenbroich Yorck , Schmidt Christian , Strohschehn Jassemien , Spielmann Malte , Zühlke Christine , Brüggemann Norbert 
Published: August 2024

Abstract
Background
Recently, an exonic GGC repeat expansion (RE) was identified by long-read genome sequencing in the ZFHX3 gen, causing spinocerebellar ataxia type 4 (SCA4), a dominant form of ataxia with sensory neuropathy. However, the analysis of larger cohorts of patients remained demanding, resulting in a challenge to diagnose patients and leaving the question of anticipation in SCA4 unanswered.

Objectives
We aimed to develop a GGC repeat test for clinical SCA4 screening and to apply this test to screen two large German SCA pedigrees and samples of unrelated patients collected over the last 25 years.

Methods
We modulated a commercial GGC-RE kit (Bio-Techne AmplideX® Asuragen® PCR/CE FMR1 Reagents) with ZFHX3-specific primers and adapted PCR conditions. The test was applied to patients and 50 healthy controls to determine the exact repeat number. Clinical data were revised and correlated with the expanded allele sizes and an exploratory analysis of structural MRI was performed.

Results
Repeat size, determined by our protocol for (GGC)n RE analysis shows a strong inverse correlation between repeat length and age at onset and anticipation in subsequent generations. The phenotype also appears to be more strongly expressed in carriers of longer RE. Clinical red flags were slowed saccades, sensory neuropathy and autonomic dysfunction.

Conclusion
Our protocol enables cost-effective and robust screening for the causative SCA4 RE within ZFHX3. Furthermore, detailed clinical data of our patients gives a more precise view on SCA4, which seems to be more common among patients with ataxia than expected.
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected
Authors: Ichikawa Yuta , Sakakibara Nana , Nagano China , Inoki Yuta , Tanaka Yu , Ueda Chika , Kitakado Hideaki , Kondo Atsushi , Ishimori Shingo , Horinouchi Tomoko , Iijima Kazumoto , Nozu Kandai 
Published: August 2024

Abstract
Background
In patients with steroid-resistant nephrotic syndrome (SRNS), the presence of monogenic variants influences therapeutic strategies. Large cohort studies reported the detection of monogenic variants in approximately 30% of patients with SRNS. However, these cohorts included many patients, such as those with symptomatic proteinuria, who did not meet the strict diagnostic criteria for pediatric nephrotic syndrome (NS). Therefore, we investigated the proportion of causative monogenic variants detected in patients who strictly met the diagnostic criteria of SRNS and explored their clinical characteristics.

Methods
We examined pediatric SRNS cases with genetic analysis conducted in our hospital. Cases satisfying all of the following criteria were included: (1) age at onset 1–18 years, (2) serum albumin at onset ≤ 2.5 g/dl, (3) persistent heavy proteinuria, and (4) no complete remission after 4 weeks of steroid monotherapy.

Results
The proportion of detected monogenic variants was 12% (22/185) among all patients. The proportion was only 7% (9/129) in patients with edema at disease onset compared with 38% (9/24) in those without (p < 0.0001). Monogenic variants were rare in patients with acute kidney injury associated with NS (1% (1/11)) or a history of complete remission (4% (2/51)).

Conclusions
Our study revealed a monogenic cause in 12% of individuals with strictly defined SRNS, a much smaller proportion than previously reported. The presence or absence of edema at the onset was an important factor to distinguish SRNS with monogenic cause from SRNS without. Our results provide further evidence of the SRNS types attributable to monogenic causes.

Graphical abstract
Evidence for the clinical effectiveness of decongestive lymphoedema treatment for breast cancer–related arm lymphoedema, a systematic review
Authors: Jeffs Eunice , Ream Emma , Taylor Cath , Purushotham Arnie , Bick Debra 
Published: August 2024

Abstract
Purpose
Early treatment is advised for breast cancer–related arm lymphoedema (BCRL), a common sequelae of breast cancer treatment. Expert guidance recommends two-phase decongestive lymphoedema treatment (DLT), although evidence is lacking for current treatment protocols and UK women are routinely offered self-treatment with hosiery.
This systematic review considered evidence regarding treatment of early BCRL, that is, within 12 months of developing BCRL.

Methods
A systematic review of evidence for clinical effectiveness of DLT for women with less than 12-month BCRL duration (early BCRL) was undertaken using the Joanna Briggs Institute (JBI) method. Studies included women with < 12-month or mean < 9-month BCRL duration; some studies reported only one eligible group. The original search was conducted in 2016 and updated in 2018 and 2022. Methodological quality of identified studies was assessed using JBI critical appraisal instruments. Outcomes of interest were extracted with eligible results displayed in narrative and tabular format. Strength of evidence was rated using the GRADE system.

Results
Seven trials and three descriptive studies provided weak evidence (grade B) for effectiveness of DLT for early BCRL. Heterogeneous protocols limited comparison of findings. There was no evidence for the most effective treatment or treatment combination or optimal frequency or duration of treatment.

Conclusion
There is no evidence to justify change in current lymphoedema treatment, whether self-treatment with hosiery (UK) or two-phase DLT (other countries). Further research for the early BCRL population is required.

Implications for cancer survivors
Women with early BCRL require early and effective treatment although this updated review shows there is still no evidence for what that treatment should be.
Unveiling the hidden dangers: a review of non-apoptotic programmed cell death in anesthetic-induced developmental neurotoxicity
Authors: Sun Haiyan , Yisi Shan  , Cao Liyan , Wu Xiping , Chen Jiangdong , Yuan Rong , Qian Min 
Published: August 2024

AbstractAnesthetic-induced developmental neurotoxicity (AIDN) can arise due to various factors, among which aberrant nerve cell death is a prominent risk factor. Animal studies have reported that repeated or prolonged anesthetic exposure can cause significant neuroapoptosis in the developing brain. Lately, non-apoptotic programmed cell deaths (PCDs), characterized by inflammation and oxidative stress, have gained increasing attention. Substantial evidence suggests that non-apoptotic PCDs are essential for neuronal cell death in AIDN compared to apoptosis. This article examines relevant publications in the PubMed database until April 2024. Only original articles in English that investigated the potential manifestations of non-apoptotic PCD in AIDN were analysed. Specifically, it investigates necroptosis, pyroptosis, ferroptosis, and parthanatos, elucidating the signaling mechanisms associated with each form. Furthermore, this study explores the potential relevance of these non-apoptotic PCDs pathways to the pathological mechanisms underlying AIDN, drawing upon their distinctive characteristics. Despite the considerable challenges involved in translating fundamental scientific knowledge into clinical therapeutic interventions, this comprehensive review offers a theoretical foundation for developing innovative preventive and treatment strategies targeting non-apoptotic PCDs in the context of AIDN.
Drivers of Digital Realities for Ongoing Teacher Professional Learning
Authors: Trevisan O. , Christensen R. , Drossel K. , Friesen S. , Forkosh-Baruch A. , Phillips M. 
Published: August 2024

AbstractIn an era marked by the widespread use of digital technology, educators face the need to constantly learn and develop their own new literacies for the information era, as well as their competencies to teach and apply best practices using technologies. This paper underscores the vital role of ongoing teacher professional learning (OTPL) with a focus on reflective practices and pedagogical reasoning and action (PR&A) in shaping education quality and equity. Examining three key drivers of educational transformation—big data and learning analytics, Artificial Intelligence (AI), and shifting teacher identities—the paper explores their overall impact on teacher practices. This paper emphasizes technology as a crucial boundary object, a catalyst of educational transformation, when used to foster communication and professional growth. To this end, three boundary objects are identified, namely dashboards, AI-driven professional learning environments, and digital communities of practice. These tools illustrate technology’s capacity to mediate relationships between transformative educational drivers and teacher practices, offering a pathway to navigate shifting perspectives on OTPL. With a theoretical foundation in equitable education, the paper provides insights into the intricate relationship between boundary objects and evolving educational dynamics. It highlights technology's pivotal role in achieving both quality and equitable education in the contemporary educational landscape. It presents a nuanced understanding of how specific tools may contribute to effective OTPL amid rapid educational transformations.
Some properties of totients
Authors: Haukkanen Pentti 
Published: August 2024

AbstractA arithmetical function f is said to be a totient if there exist completely multiplicative functions $$f_t$$

f
t

and $$f_v$$

f
v

such that$$ f=f_t*f_v^{-1}, $$

f
=

f
t

∗

f
v

-
1

,

where $$*$$

∗

is the Dirichlet convolution. Euler’s $$\phi $$
ϕ
-function is an important example of a totient. In this paper we find the structure of the usual product of two totients, the usual integer power of totients, the usual product of a totient and a specially multiplicative function and the usual product of a totient and a completely multiplicative function. These results are derived with the aid of generating series. We also provide some distributive-like characterizations of totients involving the usual product and the Dirichlet convolution of arithmetical functions. They give as corollaries characterizations of completely multiplicative functions.
Faster steroid-free remission with tocilizumab compared to methotrexate in giant cell arteritis: a real-life experience in two reference centres
Authors: Quartuccio Luca , Treppo Elena , De Martino Maria , Pillon Maria , Perniola Simone , Bruno Dario , Isola Miriam , Gremese Elisa 
Published: August 2024

AbstractGlucocorticoids (GCs) are still the mainstay of treatment of giant cell arteritis (GCA). Although GCs are highly effective in GCA, the high burden of toxicity of GCs as well as the disease relapse during GC tapering is well documented. To compare the efficacy and rapidity of TCZ and MTX as steroid-sparing agents in a real-life cohort of GCA patients. A retrospective analysis was conducted including patients with newly diagnosed GCA from the Rheumatology Units of Udine and Rome. The inclusion criterion was the treatment with TCZ or MTX as first steroid-sparing drug. 112 GCA patients (81 females) with a median age of 70 (IQ 65–75) years were collected. Thirty-one out of 112 (27.7%) patients were treated with TCZ (162 mg/week), while 81/112 (72.3%) patients received MTX (up to 20 mg/week) as a GC-sparing agent. At month 6 after GCA onset, 5/31 (16.1%) patients in TCZ group and none in MTX group were in GC-free sustained remission (p value = 0.001). Similarly, at month 12, 64.5% (20/31) and 11.1% (9/81) of patients were in sustained GC-free remission in TCZ and MTX group, respectively (p value <0.001). At month 24 of follow-up, at least one relapse of the disease occurred in 7/31 (22.6%) in TCZ-treated and 28/81 (34.6%) in MTX-treated patients, respectively (p value = 0.22). TCZ allowed a faster discontinuation of steroid therapy than MTX in GCA patients, without increasing the risk of relapse.
Effect of physical activity on patients of NSCLC
Authors: Min Qi , Xianru Shao , Gengyun Sun 
Published: August 2024

Abstract
Objective
The purpose of this study is to assess the impact of physical activity on both therapeutic efficacy and immune-related adverse events (irAEs) during immunotherapy for non-small cell lung cancer (NSCLC).

Methods
Physical activity was divided into three groups: light physical activity (LPA), moderate physical activity (MPA), and vigorous physical activity (VPA) for laboratory indexes, efficacy, and irAEs. A multivariate logistic regression was employed to analyze the relationship between sedentary behavior with efficacy and irAEs.

Results
The study included 121 patients. The three levels of physical activity were not significantly associated with efficacy or irAEs. However, noteworthy disparities were observed in base-hemoglobin levels (F = 3.4, P = 0.037) and base-lymphocyte levels (χ2 = 6.13, P = 0.047) among the three groups. After treatment, we identified statistically significant variations in albumin levels (P = 0.012) and lymphocyte counts (P = 0.035). Furthermore, a negative correlation emerged between pre-treatment sedentary behavior duration and immune-efficacy (β: −0.005, P = 0.027).

Conclusions
In summary, within the cohort of NSCLC patients undergoing single immunotherapy or a combination of immunotherapy and chemotherapy, physical activity is closely related to immune and inflammatory indicators in patients, and prolonged sitting will reduce the therapeutic effect.
Influence of confining pressure on rock fracture propagation under particle impact
Authors: Li Dong , Li Xing , Liu Huaiqian , Liu Yong 
Published: August 2024

AbstractRevealing the influence of confining pressure on the propagation and formation mechanism of rock cracks under particle impact is significant to deep rock excavation. In this study, the three-dimensional fracture reconstruction of the rock after particle impact was carried out by CT scanning, and the stress and crack field evolution of the rock under particle impact were analyzed by PFC2D discrete element numerical simulation. The results demonstrate that after particles impact, a fracture zone and intergranular main crack propagation zone are formed in the rock. The shear stress and tensile stress caused by compressive stress are the main reasons for the formation of the fracture zone, while the formation of the intergranular main crack propagation zone is mainly due to tangential derived tensile stress. The confining pressure induces prestress between rock particles such that the derived tensile stress needs to overcome the initial compressive stress between the particles to form tensile fractures. And the increase in the confining pressure leads to increases in the proportion of shear cracks and friction effects between rock particles, resulting in an increase in energy consumption for the same number of cracks. From a macroscopic perspective, the confining pressure can effectively inhibit the generation of cracks.
Rising potentials of epigallocatechin gallate (EGCG) loaded lipid-based delivery platforms for breast cancer
Authors: Nag Sagnik , Bhunia Adrija , Mohanto Sourav , Ahmed Mohammed Gulzar , Subramaniyan Vetriselvan 
Published: August 2024

AbstractBreast cancer is a major global health concern that requires the development of innovative treatment strategies. Epigallocatechin gallate (EGCG), a polyphenolic phytocompound found abundantly in green tea, has exhibited potential anti-cancer properties, including anti-inflammatory, anti-oxidant, anti-angiogenic, and anti-proliferative effects. However, the clinical translation of EGCG is hindered by its poor bioavailability and stability. Lipid-based nanocarriers have materialized as an optimistic platform for encapsulating various therapeutics due to their high drug-loading capacity, stability, biocompatibility, and versatility. The rationale for encapsulating EGCG-loaded lipid nanoparticles is to enhance the therapeutic efficacy, bioavailability, and targeted delivery of EGCG for breast cancer treatment. This targeted delivery minimizes off-target effects and enhances the accumulation of EGCG within tumors or diseased tissues in a controlled or sustained manner, reducing systemic toxicity. In addition, co-delivery of EGCG with synergistic agents can enhance therapeutic efficacy through complementary mechanisms of action, overcome biological barriers, and can be combined with other treatment modalities, i.e., radiation therapy, immunotherapy, chemotherapy, etc., to achieve synergistic effectiveness and overcome resistance mechanisms. The advancement of EGCG-loaded lipid nanoparticles exhibits the potential effectiveness of EGCG-based treatments, can overcome the challenges of administering EGCG, and can transform cancer therapy and other biomedical applications.
Graphical abstract

Understanding the potential role of Epigallocatechin gallate (EGCG) in breast cancer treatment through various signaling pathways and further loaded into the lipid-based delivery system for the improvement of mechanical and biological characteristics of the EGCG.
Acceptability and feasibility of integrating psychosocial stimulation interventions in the inpatient care of children with severe acute malnutrition in resource-poor settings: a qualitative study
Authors: Tessema Tesfalem Teshome , Alamdo Andamlak Gizaw , Mekonnen Eyoel B. , Yirtaw Tewodros G. , Debele Fanna A. , Gemechu Teklu , Belachew Tefera 
Published: August 2024

Abstract
Children with Severe Acute Malnutrition (SAM) are at risk of developmental problems. Psychosocial stimulation can improve the developmental outcomes of hospitalised children with SAM. However, the intervention has remained underutilised in health facilities in resource-poor settings. Moreover, there is limited evidence on the acceptability and feasibility of the intervention. We conducted a qualitative study to explore the acceptability and feasibility of integrating psychosocial stimulation interventions in the inpatient care of children with SAM in selected areas in the Silti Zone, Central Ethiopia. Nine focus group discussions and 15 key informant interviews were conducted with parents, health workers, and other stakeholders. The data were transcribed, translated, and analysed using a thematic approach. Caregivers and health workers had positive attitudes toward the intervention and perceived it beneficial for the children’s development, recovery, and bonding with the mothers. Health workers reported barriers such as lack of materials, time, and space, capacity building training, and supervision for the effective implementation of the intervention. At the household level, gendered factors such as the housework burden of mothers and the inadequate engagement of fathers in childcare were the main challenges to the implementation of the intervention. Overall, psychosocial stimulation intervention was found to be acceptable and feasible for routine implementation with inpatient care provided for children with SAM. The study recommends supporting health facilities, health workers, and partners with the necessary resources and skills to promote the implementation of stimulation interventions along with the existing care provided in health facilities in resource-poor settings.
Racial Tropes in the Foreign Policy Bureaucracy: A Computational Text Analysis
Authors: Carson Austin , Min Eric , Van Nuys Maya 
Published: August 2024

AbstractHow do racial stereotypes affect perceptions in foreign policy? Race and racism as topics have long been marginalized in the study of international relations but are receiving renewed attention. In this article we assess the role of implicit racial bias in internal, originally classified assessments by the US foreign policy bureaucracy during the Cold War. We use a combination of dictionary-based and supervised machine learning techniques to identify the presence of four racial tropes in a unique corpus of intelligence documents: almost 5,000 President's Daily Briefs given to Kennedy, Johnson, Nixon, and Ford. We argue and find that entries about countries that the US deemed “racialized Others”—specifically, countries in the Global South, newly independent states, and some specific regional groupings—feature an especially large number of racial tropes. Entries about foreign developments in these places are more likely to feature interpretations that infantilize, invoke animal-based analogies, or imply irrationality or belligerence. This association holds even when accounting for the presence of conflict, the regime type of the country being analyzed, the invocation of leaders, and the topics being discussed. The article makes two primary contributions. First, it adds to the revival of attention to race but gives special emphasis to implicit racialized thinking and its appearance in bureaucratic settings. Second, we show the promise of new tools for identifying racial and other forms of implicit bias in foreign policy texts.
Recent Emerging Shifts in Precipitation Intensity and Frequency in the Global Tropics Observed by Satellite Precipitation Data Sets
Authors: Fu Yuxia , Wu Qiaoyan 
Published: August 2024

AbstractClimate models indicate that a warmer environment will increase low‐level moisture, potentially intensify extreme precipitation. However, its impact on different rainfall types remains unclear. Using satellite data, we examined changes in light (0‐95th percentile, ≤5.28 mm hr−1) and heavy (95‐100th percentile, >5.28 mm hr−1) precipitation in the tropics from 1998 to 2019. Our findings show a −9 ± 2% (23 ± 2%) change in heavy (light) rain intensity and a 13 ± 2% (−24 ± 1%) change in heavy (light) rain frequency. These changes link to warmer sea surface temperatures, increased atmospheric stability and water vapor, and weakened upward velocity. These insights shed light on how heavy and light precipitation patterns respond to changing climate, emphasizing the complexities within the hydrological cycle.