bluuebunny/crossref_metadata_2025 huggingface dataset:
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome
Authors: Karla Aamuktha R. , Pinard Amélie , Boerio Maura L. , Hemelsoet Dimitri , Tavernier Simon J. , De Pauw Michel , Vereecke Elke , Fraser Stuart , Bamshad Michael J. , Guo Dongchuan , Callewaert Bert , Milewicz Dianna M.
Published: December 2023

Aicardi–Goutières syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early‐onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7‐1. Diagnosis is established by clinical findings (encephalopathy and acquired microcephaly, intellectual and physical impairments, dystonia, hepatosplenomegaly, sterile pyrexia, and/or chilblains), characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), or the identification of pathogenic/likely pathogenic variants in the known genes. One of the genes associated with AGS, SAMHD1, has also been associated with a spectrum of cerebrovascular diseases, including moyamoya disease (MMD). In this report, we describe a 31‐year‐old male referred to genetics for MMD since childhood who lacked the hallmark features of AGS patients but was found to have compound heterozygous SAMHD1 variants. He later developed mitral valve insufficiency due to recurrent chordal rupture and ultimately underwent a heart transplant at 37 years of age. Thus, these data suggest that SAMHD1 pathogenic variants can cause MMD without typical AGS symptoms and support that SAMHD1 should be assessed in MMD patients even in the absence of AGS features.
Refining the activities of genetic assistants: Development of task statements applicable across practice settings
Authors: Tohms Ashley , Krutish Angela , Hartley Jessica N.
Published: December 2023

Although genetic (counseling) assistants (GAs) have been implemented in many institutions, their roles vary widely. Therefore, this study aimed to refine our knowledge of GA tasks across work settings and specialties. Tasks performed by GAs were extracted from peer‐reviewed articles, publicly available theses, and job postings, then analyzed using directed content analysis. Briefly, task statements were coded using broad categories from previous studies, with new categories added as emergent. Coded tasks were combined and condensed to produce a final task list, which was reviewed by subject matter experts. Sixty‐one task statements were extracted from previous studies and 335 task statements were extracted from job descriptions. Directed content analysis produced a list of 40 unique tasks under 10 categories (8 from original research and 2 from the data). This study design resulted in a refined list of GA tasks that may be applicable across work settings and specialties, which is an essential step towards defining the scope of GA work. Beyond the human resource applications of the refined task list, this work may also benefit genetics services by reducing role overlap, improving efficiencies, improving employee satisfaction, and informing the development/improvement of training and other educational materials.
Dental findings in wild great apes from macerated skull analysis
Authors: Albrecht Anja , Behringer Verena , Zierau Oliver , Hannig Christian
Published: December 2023

Oral health is a crucial aspect of overall well‐being in both humans and nonhuman primates. Understanding the oral pathologies and dental conditions in apes can provide valuable insights into their evolutionary history, dietary habits, and overall health. The present study evaluates dental findings in wild great apes from museum specimens to gain insights into the influence of natural nutrition on dental health. Complete macerated skulls of wild, adult great apes from the collection of the Museum of Natural History, Berlin, Germany, were examined. We analyzed skulls of 53 gorillas (Gorilla gorilla), 63 chimpanzees (Pan troglodytes), and 41 orangutans (Pongo spp.). For each skull, we recorded wear of dental hard tissues (Lussi and Ganss index), carious lesions, and periodontal bone loss. Incisal and occlusal dental hard tissue defects were found in all skulls, as well as considerable external staining. In all species, incisors and canines showed the greatest loss of tissue, followed by molars. The wear of molars decreased from the first to the third molars, premolars showed the least pronounced defects. Some individuals had apical osteolytic defects along with severe dental hard tissue loss with pulp involvement or after dental trauma, respectively (n = 5). Our study did not observe any carious lesions among the examined great ape skulls. However, we did find evidence for localized or generalized periodontal bone loss in a subset of the specimens (n = 3 chimpanzees, n = 7 orangutans). The natural diet and foraging behavior of great apes induces abrasion and attrition of dental hard tissue but does not yield carious lesions. The occurrence of periodontitis in individual apes indicates that the natural circumstances can induce periodontal bone loss even in the wild, despite physiological nutrition.
Uncovering elevated tau TPP motif phosphorylation in the brain of Alzheimer's disease patients
Authors: Bellier Jean‐Pierre , Cai Yuqi , Alam Sarah M. , Wiederhold Thorsten , Aiello Arica , Vogelgsang Jonathan S. , Berretta Sabina , Chhatwal Jasmeer P. , Selkoe Dennis J. , Liu Lei
Published: December 2023

INTRODUCTION

A wide array of post‐translational modifications of the tau protein occurs in Alzheimer's disease (AD) and they are critical to pathogenesis and biomarker development. Several promising tau markers, pT181, pT217, and pT231, rely on increased phosphorylation within a common molecular motif threonine‐proline‐proline (TPP).

METHODS

We validated new and existing antibodies against pT217, pT231, pT175, and pT181, then combined immunohistochemistry (IHC) and immunoassays (ELISA) to broadly examine the phosphorylation of the tau TPP motif in AD brains.

RESULTS

The tau burden, as examined by IHC and ELISA, correlates to Braak stages across all TPP sites. Moreover, we observed regional variability across four TPP motif phosphorylation sites in multiple brains of sporadic AD patients.

DISCUSSION

We conclude that there is an elevation of TPP tau phosphorylation in AD brains as disease advances. The regional variability of pTPP tau suggests that examining different phosphorylation sites is essential for a comprehensive assessment of tau pathology.
Constraints via the Event Horizon Telescope for Black Hole Solutions with Dark Matter under the Generalized Uncertainty Principle Minimal Length Scale Effect
Authors: Övgün Ali , Sese Lemuel John F. , Pantig Reggie C.
Published: December 2023

Four spherically symmetric but non‐asymptotically flat black hole solutions surrounded with spherical dark matter distribution perceived under the minimal length scale effect is derived via the generalized uncertainty principle. Here, the effect of this quantum correction, described by the parameter , is considered on a toy model galaxy with dark matter and the three well‐known dark matter distributions: the cold dark matter, scalar field dark matter, and the universal rotation curve. The aim is to find constraints to by applying these solutions to the known supermassive black holes: Sagittarius A (Sgr. A*) and Messier 87* (M87*), in conjunction with the available Event Horizon telescope. The effect of is then examined on the event horizon, photonsphere, and shadow radii, where unique deviations from the Schwarzschild case are observed. As for the shadow radii, bounds are obtained for the values of on each black hole solution at confidence level. The results revealed that under minimal length scale effect, black holes can give positive (larger shadow) and negative values (smaller shadow) of , which are supported indirectly by laboratory experiments and astrophysical or cosmological observations, respectively.
The influence of polycaprolactone content on the surface properties of polyurethane networks
Authors: Stefanović Ivan S. , Džunuzović Jasna V. , Džunuzović Enis S. , Randjelović Danijela V.
Published: December 2023

The aim of this work was to examine the influence of polycaprolactone (PCL) as a soft segment (SS) on the surface properties of polyurethane networks (PUNs). Five PUNs with different SS content (from 10 to 50 wt%) were prepared using Boltorn® aliphatic hyperbranched polyester of the second pseudo generation and isophorone diisocyanate as components of hard segments. The structure, hydrophobicity, wettability, and swelling behavior of these PUNs were investigated. Primarily, the obtained results showed that properties of prepared PUNs strongly depend on the content of SS that is, PCL. It has been established that the increase of SS content reduced the degree of hydrogen bonding in PUNs. Also, the increase of the SS content in PUNs induced appearance of more pronounced microphase separated morphology, better hydrophobicity and non‐wetting with diiodomethane. Simultaneously, the increase of the SS content led to the decrease of contact angles with formamide, and surface free energy of the prepared PUNs. These PUNs show good surface properties that are required for their potential application such as coatings.
Extracorporeal shock wave lithotripsy: Prematurely falling out of favour? A 7 year retrospective study from an Australian high‐volume centre
Authors: Patel Nishal , Stephenson‐Smith Brittany , Roberts Jay , Kothari Akshay
Published: December 2023

Objectives

The aim of this study is to audit 7 years of data with a 3 year follow up from a high‐volume stone centre performing extracorporeal shock wave lithotripsy (ESWL) to evaluate efficacy in stone clearance compared to existing knowledge and understand reasons for this performance.

Methods

Patients who received ESWL treatment for renal or proximal ureteric stones at a single centre between January 2012 and January 2019 (to allow minimum 3 year follow up) were retrieved. A retrospective analysis was performed cross referencing for stone size, location, treatment and need for further procedures. Ethical approval was granted through Metro North HHS HREC, Queensland, Australia.

Results

A total of 1930 patients met inclusion criteria. Fifty‐seven percent (n = 1100) underwent left‐sided ESWL, compared to 43% (n = 830) on the right. Stone size and location were both statistically significant to treatment outcome. Small stones (<1 cm) had an overall clearance rate of 81.9%, medium stones (1–2 cm) had a clearance rate of 60.6% and stones (>2 cm) had a clearance rate of 31.3%. Small stones in an upper calyx had the highest clearance rate (87.5%, n = 120). Allowing for two procedures, 89% of stones were treated successfully.

Conclusion

ESWL remains a legitimate option for the treatment of small and medium sized renal calculi. ESWL stone clearance rates at our centre are higher than published elsewhere and serve as proof to its efficacy. X‐ray imaging on the day of the procedure, heavy consultant input and frequent intra‐operative imaging are cited as key reasons for success. Further research is warranted to elucidate factors affecting stone clearance rate and to enable more standardised outcomes. Further investment may be required into ESWL provisions in most Australian states and especially in Queensland to enable its continued use in contrast to developing endourological techniques.
Roles of rRNA N‐methyladenosine modification in the function of ribosomes
Authors: Yang Jingyi , Wang Yameng , Huang Zekai , Jiang Yashuang , Pan Xiaolei , Dong Xiaowei , Yang Geng
Published: December 2023

The N‐methyladenosine (m6A) modification of ribosomal RNA (rRNA) plays critical roles in regulating the function of ribosomes, the essential molecular machines that translate genetic information from mRNA into proteins. Specifically, m6A modification affects ribosome biogenesis, stability, and function by regulating the processing and maturation of rRNA, the assembly and composition of ribosomes, and the accuracy and efficiency of translation. Furthermore, m6A modification allows for dynamic regulation of translation in response to environmental and cellular signals. Therefore, a deeper understanding of the mechanisms and functions of m6A modification in rRNA will advance our knowledge of ribosome‐mediated gene expression and facilitate the development of new therapeutic strategies for ribosome‐related diseases.
The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans
Authors: Nourbakhsh Seyed Mohammad Kazem , Bahadoram Mohammad , Rashidi‐Nezhad Ali , Habibi Laleh , Mansouri Fatemeh , Akade Esma'il
Published: December 2023

Key Clinical Message

Purpura fulminans is a severe coagulation disorder that often leads to death in neonates. Mutations in the protein C (PROC) gene can cause protein C deficiency, leading to this disorder. This study aimed to investigate a family with a history of coagulopathies, particularly those related to protein C deficiency. The primary objective was to identify any genetic mutations in the PROC gene responsible for the coagulopathies. The study focused on a male neonate with purpura fulminans who ultimately died at 2 months of age. The patient had low protein C activity levels (6%). The entire PROC gene of the patient and his family was analyzed using next‐generation sequencing to identify any genetic mutations. Segregation analysis was conducted to determine if the mutation followed an autosomal dominant inheritance pattern. In silico analysis was also conducted to evaluate the pathogenicity of the identified mutation. Analysis revealed a novel homozygous c.1243T>G variant PROC gene. The mutation resulted in a Phe415Val substitution. The mutation was found in at least three generations of the family. Carrier family members had lower protein C activity levels than wild‐type homozygotes. Additionally, the mutation may account for the observed reduction in protein C enzyme activity.
Failure location effects on slow crack growth parameter estimates
Authors: Salem Jonathan , Murthy Pappu L. N.
Published: December 2023

As part of Roman Space Telescope component development, the slow crack growth (SCG) parameters of a glass were measured using constant stress rate testing of ASTM C1161 beams. Failures occurred on the faces, bevels and sides of the test specimens thereby providing an opportunity to examine the effects of failure location on SCG parameter estimates. Censoring of the data by location did not have a statistically significant effect on the slow crack growth parameter estimates. Linear and nonlinear fits were also made to various strength estimators. Nonlinear fits gave slightly lower estimates of the parameters. The main influence on parameter estimates was a low strength, infrequent flaw population. Exponential model parameters were estimated via swarm optimization.
Maintenance and consolidation strategies for patients with untreated advanced follicular lymphoma: A systematic review and network meta‐analysis of randomized trials
Authors: Chu Yurou , Liu Yingyue , Yu Zhuoya , Zhan Linquan , Lu Tiange , Jiang Yujie , Fang Xiaosheng , Zhou Xiangxiang , Wang Xin
Published: December 2023

Background

The emergence of novel and efficient antibody maintenance approaches has provided more options for post‐induction treatment of advanced follicular lymphoma (FL), and further comparisons are required to determine the most clinically beneficial regimen. The authors conducted a systematic review and meta‐analysis to evaluate the maintenance or consolidation strategy.

Methods

The authors performed two independent searches in PubMed, Web of Science, the Cochrane library databases, Scopus, and Embase for randomized controlled trials (RCTs) evaluating maintenance or consolidation therapy in untreated FL patients. Extracted data included the clinical characteristics, treatment regimen, progression‐free survival (PFS), overall survival (OS), and adverse effects. They then pooled the data and used a Bayesian random‐effects model to combine direct comparisons with indirect evidence.

Results

The authors screened 1515 records and identified 13 eligible RCTs that assessed nine different regimens in 5681 advanced FL patients. Reconstructed individual survival data presented that obinutuzumab had the highest effect sizes and certainty of the evidence for PFS (hazard ratio, 0.43; 95% confidence interval, 0.22–0.79) and tolerability compared with observation. However, no benefit was observed in patients according to the OS, regardless of which regimen was taken. Considering other regimens, although an extended course of rituximab maintenance and consolidation therapies presented PFS benefits compared with standard rituximab maintenance, they were also associated with higher toxicity.

Conclusions

Although obinutuzumab and rituximab maintenance treatment improved PFS significantly, its clinical benefit requires further validation in larger populations. Furthermore, because few trials informed each treatment comparison, research is needed to refine the understanding of this complex and rapidly evolving treatment landscape.
Changes in oral microflora following 0.3% cetylpyridinium chloride‐containing mouth spray intervention in adult volunteers after professional oral care: Randomized clinical study
Authors: Fujimoto Ai , Fujii Kana , Suido Hirohisa , Fukuike Hisae , Miyake Naoko , Suzuki Hidenori , Eguchi Toru , Tobata Haruko
Published: December 2023

Objectives

This study explored the changes in bacterial flora composition and total bacterial count in the saliva and tongue coating, along with the change in the tongue coating index (TCI) following an intervention with 0.3% cetylpyridinium chloride (CPC) mouth spray after professional oral care.

Materials and Methods

Fifty‐two adult volunteers aged 30–60 years were equally divided into CPC spray (n = 26) and control (n = 26) groups. All subjects underwent scaling and polishing. The CPC spray group was administered four puffs of CPC spray to the tongue dorsum four times a day for 3 weeks. The control group performed only routine daily oral care (brushing) and did not use any other spray. Bacteriological evaluation of saliva and tongue coating was performed using 16S ribosomal RNA gene sequencing and quantitative polymerase chain reaction. The tongue coating was evaluated to calculate the TCI. A per‐protocol analysis was conducted for 44 subjects (CPC spray group, n = 23; control group, n = 21).

Results

At 1 and 3 weeks after CPC spray use, the flora of the saliva and tongue coating changed; the genus Haemophilus was dominant in the CPC spray group, whereas the genus Saccharibacteria was dominant in the control group. The sampling time differed among individual participants, which may have affected the bacterial counts. There was no significant intragroup change in TCI in either group.

Conclusions

CPC spray affected the bacterial flora in the saliva and tongue coating, particularly with respect to an increase in the abundance of Haemophilus. However, CPC spray did not change the TCI. These results suggest that it may be optimal to combine CPC spray with a physical cleaning method such as using a tongue brush or scraper. Clinical Trial Registration: University Hospital Medical Information Network UMIN000041140.
Teachers' interpretation of curriculum as a window into ‘curriculum potential’
Authors: Ross Emily
Published: December 2023

Ben‐Peretz's (1975) concept of intended curriculum describes a version of curriculum that ‘official’ curriculum developers create to provide a detailed guide to what teachers are required to teach in schools. While some curricula are intended to guide learning, others give a more definitive regulation of what must be taught. Either way, they are a product of curriculum developers writing government policy that defines what is considered essential for students to know. The teacher then undertakes the technical task of interpreting these policy texts to discern how they will introduce the content to their students. Once the teacher receives the curriculum text, they begin a translation process. While the curriculum developer has a vision of how teachers will interpret the curriculum, the teacher's translation of the curriculum text is filtered through the teachers' understanding of the subject matter. This notion of ‘curriculum potential’ represents the culmination of the teacher's subject matter knowledge acquired throughout their education and career which serves as the reference point for curriculum interpretation. This article describes the process of curriculum interpretation used by primary teachers during the implementation of Australian curriculum reform. The study examined the interpretation process from the intended curriculum to the planned curriculum to the enacted curriculum used by the teachers and the influences impacting upon these processes. The analysis of the teachers' interpretations was demonstrated through a process for curriculum mapping developed for this study. This work will present the teachers' pathways to curriculum enactment as a hermeneutic interpretation of curriculum, revealing the teachers' curriculum potential. While frequently descriptions of curriculum potential focuss on subject matter knowledge, analysis of primary teacher curriculum interpretation necessitates a broader definition. The paper concludes that the primary teachers' interpretation process is drawn from a wider curriculum potential that intersects their knowledge of subject matter and knowledge of their students.
The quest for wellness: How to optimise self‐care strategies for diabetic foot management?
Authors: Pouwer Frans , Perrin Byron , Lavender Andy , Najafi Bijan , Ismail Khalida , Vileikyte Loretta
Published: December 2023

Diabetic foot ulceration (DFU) is common and highly recurrent, negatively impacting the individuals' quality of life. The 2023 guidelines of the International Working Group on the Diabetic Foot emphasise that adherence to foot self‐care recommendations is one of the most important factors in DFU prevention. These guidelines also briefly mention that depression and other psychosocial problems can hamper treatment and ulcer healing. Moreover, a new clinical question was added on psychological interventions for ulcer prevention, although the evidence regarding the role of psychological and social factors is still limited. To help the field progress, this narrative overview discusses how a stronger focus on psychological factors by both researchers and clinicians could improve the care for people at high DFU risk. The review starts with a testimony of a person living with DFU, explaining that for him, the absence of shared decision‐making has been a key barrier to successful foot self‐care implementation. Intervention studies that address patient‐reported barriers are still scarce, and are therefore urgently needed. Furthermore, the key elements of psychological interventions found to be successful in managing diabetes are yet to be implemented in DFU risk management. Importantly, research evidence indicates that commonly advocated foot self‐care recommendations may be insufficient in preventing DFU recurrence, whereas digital technology appears to effectively reduce recurrent DFU. More research is therefore needed to identify determinants of patient acceptance of digital technology.
What is environmental DNA?
Authors: Power Haylea , Takahashi Miwa , Jarman Simon , Berry Oliver
Published: December 2023

DNA collected from the environment (eDNA) can provide valuable understanding of ecological patterns and processes. eDNA is highly physically heterogeneous, but this has not been well‐characterized, so most eDNA sampling strategies do not target any particular physical fraction. Consequently, we have limited evidence to understand and interpret the physical behavior of eDNA, to improve the efficiency of sampling, nor to target components of the eDNA spectrum for taxonomic and molecular attributes. We perform the first detailed characterization of the components of a marine eDNA sample using serial filtering from an 80 to <0.22 μm particle size gradient, a tree of life metabarcoding approach using taxon‐specific and universal assays, coupled with scanning electron microscopy and fluorescent confocal microscopy. We confirm that eDNA is manifest in a broad spectrum of physical states, ranging from extracellular DNA fragments to whole cells, tissue fragments, and whole organisms. The largest of these fractions of eDNA were embedded in microbial biofilms, rather than particulate. We show that the choice of filter size and types can target components of this spectrum, can affect the detectable species richness, and notably, also enrich samples for specific taxonomic groups. Our results imply that there is considerable scope to improve the efficiency of eDNA collection from aquatic environments, and its informativeness.
Measuring magnetic force field distributions in microfluidic devices: Experimental and numerical approaches
Authors: Strayer Jacob , Choe Hyeon , Wu Xian , Weigand Mitchell , Gómez‐Pastora Jenifer , Zborowski Maciej , Chalmers Jeffrey J.
Published: December 2023

Precisely and accurately determining the magnetic force and its spatial distribution in microfluidic devices is challenging. Typically, magnetic microfluidic devices are designed in a way to both maximize the force within the separation region and to minimize the necessity for knowing such details—such as designing magnetic geometries that create regions of nearly constant magnetic force or that dictate the behavior of the magnetic force to be highly predictable in a specified region. In this work, we present a method to determine the spatial distribution of the magnetic force field in a magnetic microfluidic device by particle tracking magnetophoresis. Polystyrene microparticles were suspended in a paramagnetic fluid, gadolinium, and this suspension was exposed to various magnetic field geometries. Polystyrene particle motion was tracked using a microscope and images processed using Fiji (ImageJ). From a sample with a large spatial distribution of particle tracks, the magnetic force field distribution was calculated. The force field distribution was fitted to nonlinear spatial distribution models. These experimental models are compared to and supported by 3D simulations of the magnetic force field in COMSOL.
Role of the glymphatic system and perivascular spaces as a potential biomarker for post‐stroke epilepsy
Authors: Hlauschek Gernot , Nicolo John‐Paul , Sinclair Benjamin , Law Meng , Yasuda Clarissa L. , Cendes Fernando , Lossius Morten Ingvar , Kwan Patrick , Vivash Lucy
Published: December 2023

Stroke is one of the most common causes of acquired epilepsy, which can also result in disability and increased mortality rates particularly in elderly patients. No preventive treatment for post‐stroke epilepsy is currently available. Development of such treatments has been greatly limited by the lack of biomarkers to reliably identify high‐risk patients. The glymphatic system, including perivascular spaces (PVS), is the brain's waste clearance system, and enlargement or asymmetry of PVS (ePVS) is hypothesized to play a significant role in the pathogenesis of several neurological conditions. In this article, we discuss potential mechanisms for the role of perivascular spaces in the development of post‐stroke epilepsy. Using advanced MR‐imaging techniques, it has been shown that there is asymmetry and impairment of glymphatic function in the setting of ischemic stroke. Furthermore, studies have described a dysfunction of PVS in patients with different focal and generalized epilepsy syndromes. It is thought that inflammatory processes involving PVS and the blood–brain barrier, impairment of waste clearance, and sustained hypertension affecting the glymphatic system during a seizure may play a crucial role in epileptogenesis post‐stroke. We hypothesize that impairment of the glymphatic system and asymmetry and dynamics of ePVS in the course of a stroke contribute to the development of PSE. Automated ePVS detection in stroke patients might thus assist in the identification of high‐risk patients for post‐stroke epilepsy trials.

Plain Language Summary

Stroke often leads to epilepsy and is one of the main causes of epilepsy in elderly patients, with no preventative treatment available. The brain’s waste removal system, called the glymphatic system which consists of perivascular spaces, may be involved. Enlargement or asymmetry of perivascular spaces could play a role in this and can be visualised with advanced brain imaging after a stroke. Detecting enlarged perivascular spaces in stroke patients could help identify those at risk for post‐stroke epilepsy.
Experimental investigation and modeling of boundary influences on in‐plane seismic performance of partition walls
Authors: Huang Jiantao , Kurata Masahiro , Shen Shao‐Dong
Published: December 2023

The in‐plane seismic performance of cold‐formed steel‐framed gypsum partition walls (hereinafter referred to as partition walls) varies with boundaries provided by surrounding members, causing differences in repair time. The studies that explicitly consider the influence of boundary members are limited and remain at the preliminary stage of qualitative analysis. Most existing numerical models used for partition walls also lack the simulation of boundaries. Our study focuses on the influence of vertical boundaries on the seismic performance of partition walls. The damage locations of partition walls with different vertical boundaries were recorded during quasi‐static tests, and the repair time was evaluated. Data collected by potentiometers and an image‐based displacement measurement system quantifies the influence of boundaries on the rigid body motion and deformation in a mechanism. A numerical model incorporating boundaries based on the damage and mechanism was proposed and validated to predict the repair time. The presented results provide a potential solution for improved detailing with consideration on repair.
Convenient determination of serum HER‐2 status in breast cancer patients using Raman spectroscopy
Authors: Li Lintao , Li Junjie , Wang Xianliang , Lu Shun , Ji Juan , Yin Gang , Luo Huaichao , ting Wang , Xin Zhang , Wang Dongsheng
Published: December 2023

Given the significant therapeutic efficacy of anti‐HER‐2 treatment, the HER‐2 status is a crucial piece of information that must be obtained in breast cancer patients. Currently, as per guidelines, HER‐2 status is typically acquired from breast tissue of patients. However, there is growing interest in obtaining HER‐2 status from serum and other samples due to the convenience and potential for dynamic monitoring. In this study, we have developed a serum Raman spectroscopy technique that allows for the rapid acquisition of HER‐2 status in a convenient manner. The established HER‐2 negative and positive classification model achieved an area under the curve of 0.8334. To further validate the reliability of our method, we replicated the process using immunohistochemistry and in situ hybridization. The results demonstrate that serum Raman spectroscopy, coupled with artificial intelligence algorithms, is an effective technical approach for obtaining HER‐2 status.
The effects of low‐level laser therapy on severe acute respiratory syndrome coronavirus 2 infection in HEK293/ACE2 cells
Authors: Mngwengwe Luleka , Lugongolo Masixole Yvonne , Ombinda‐Lemboumba Saturnin , Ismail Yaseera , Mthunzi‐Kufa Patience
Published: December 2023

SARS‐CoV‐2 is a threat to public health due to its ability to undergo crucial mutations, increasing its infectivity and decreasing the vaccine's effectiveness. There is a need to find and introduce alternative and effective methods of controlling SARS‐CoV‐2. LLLT treats diseases by exposing cells or tissues to low levels of red and near‐infrared light. The study aims to investigate for the first time the impact of LLLT on SARS‐CoV‐2 infected HEK293/ACE2 cells and compare them to uninfected ones. Cells were irradiated at 640 nm, at different fluences. Subsequently, the effects of laser irradiation on the virus and cells were assessed using biological assays. Irradiated uninfected cells showed no changes in cell viability and cytotoxicity, while there were changes in irradiated infected cells. Furthermore, uninfected irradiated cells showed no luciferase activity while laser irradiation reduced luciferase activity in infected cells. Under SEM, there was a clear difference between the infected and uninfected cells.
The importance of preoperative T3 stage substaging by 3D endorectal ultrasonography for the prognosis of middle and low rectal cancer
Authors: Liu Qizhi , Zang Yunhua , Zhou Dehua , Chen Zhuo , Xin Cheng , Zang Wei , Tu Xiaohuang
Published: December 2023

Objective

The study aimed to validate the role of 3D‐endorectal ultrasonography in prognosis and recurrence for patients with T3‐stage rectal cancer by evaluating the preoperative extramural depth of tumor invasion.

Methods

In this study, we investigated the medical records of rectal cancer patients who were admitted to Changhai Hospital's Colorectal Surgery Division. The sample group was categorized into three subgroups (T3a, T3b, and T3c) based on the extent of tumor progression (<5 mm, 5–10 mm, and >10 mm) to assess the endorectal ultrasonography diagnostic performance. The 5‐year disease‐free survival and overall survival were assessed using the Kaplan‐Meier method and a log rank test. Cox regression analysis verified the tumor invasion depth's significance as a prognostic predictor, and it was also utilized to evaluate other independent risk variables for recurrence after surgery.

Results

The study included 72 individuals with low and middle rectal cancer from January 2014 to November 2019. Twenty‐two individuals had stage T3a, 22 had stage T3b, and 28 had stage T3c based on preoperative endorectal ultrasonography. Endorectal ultrasonography had 88.0%, 86.8%, and 76.2% overall accuracy for stratifying subgroups, respectively. According to the Kaplan‐Meier curve, 5‐year OS was 100%, 83.5%, and 92.9% for T3a, T3b, and T3c (p = 0.172), and 5‐year disease‐free survival was 100%, 80.8%, and 72.9% for T3a, T3b, and T3c, respectively (p = 0.014). A distinct risk factor for 5‐year disease‐free survival was the degree of tumor infiltration (p = 0.039).

Conclusion

Preoperative T3 stage subdivision allows for categorization of prognosis and survival. Endorectal ultrasonography reports should make explicit declarations of T3a, T3b, and T3c scales.
Novel molecular insights into pyroptosis in triple‐negative breast cancer prognosis and immunotherapy
Authors: Yu Bin , Luo Junjie , Yang Yifei , Zhen Ke , Shen Binjie
Published: December 2023

Background

Patients with triple‐negative breast cancer (TNBC) often have a poor prognostic outcome. Current treatment strategies cannot benefit all TNBC patients. Previous findings suggested pyroptosis as a novel target for suppressing cancer development, although the relationship between TNBC and pyroptosis‐related genes (PRGs) was still unclear.

Methods

Gene expression data and clinical follow‐up of TNBC patients were collected from the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) and Gene Expression Omnibus (GEO). PRGs were screened using weighted gene co‐expression network analysis. Cox regression analysis and the least absolute shrinkage and selection operator (i.e. LASSO) technique were applied to construct a pyroptosis‐related prognostic risk score (PPRS) model, which was further combined with the clinicopathological characteristics of TNBC patients to develop a survival decision tree and a nomogram. The model was used to calculate the PPRS, and then the overall survival, immune infiltration, immunotherapy response and drug sensitivity of TNBC patients were analyzed based on the PPRS.

Results

The PPRS model was closely related to clinicopathological features and can independently and accurately predict the prognosis of TNBC. According to normalized PPRS, patients in different cohorts were divided into two groups. Compared with the high‐PPRS group, the low‐PPRS group had significantly higher ESTIMATE (i.e. Estimation of STromal and Immune cells in MAlignantTumours using Expression data) score, immune score and stromal score, and it also had overexpressed immune checkpoints and significantly reduced Tumor Immune Dysfunction and Exclusion (TIDE) score, as well as higher sensitivity to paclitaxel, veliparib, olaparib and talazoparib. A decision tree and nomogram based on PPRS and clinical characteristics can improve the prognosis stratification and survival prediction for TNBC patients.

Conclusions

A PPRS model was developed to predict TNBC patients' immune characteristics and response to immunotherapy, chemotherapy and targeted therapy, as well as their survival outcomes.
Bio‐functional and prebiotics properties of products based on whole grain sorghum fermented with lactic acid bacteria
Authors: Garzón Antonela G , Veras Flávio Fonseca , Brandelli Adriano , Drago Silvina R
Published: December 2023

BACKGROUND

Products fermented with lactic acid bacteria based on whole grain flours of red or white sorghum (Sorghum bicolor (L.) Moench) added with malted sorghum flour, or with skim milk (SM) were developed. Composition, protein amino acid profile, total acidity, pH, prebiotic potential, and bio‐functional properties after simulation of gastrointestinal digestion were evaluated.

RESULTS

In all cases, a pH of 4.5 was obtained in approximately 4.5 h. The products added with SM presented higher acidity. Products made only with sorghum presented higher total dietary fiber, but lower protein content than products with added SM, the last ones having higher lysine content. All products exhibited prebiotic potential, white sorghum being a better ingredient to promote the growth of probiotic bacteria. The addition of malted sorghum or SM significantly increased the bio‐functional properties of the products: the sorghum fermented products added with SM presented the highest antioxidant (ABTS•+ inhibition, 4.7 ± 0.2 mM Trolox), antihypertensive (Angiotensin converting enzyme‐I inhibition, 57.3 ± 0.5%) and antidiabetogenic (dipeptidyl‐peptidase IV inhibition, 31.3 ± 2.1%) activities, while the products added with malted sorghum presented the highest antioxidant (reducing power, 1.6 ± 0.1 mg ascorbic acid equivalent/mL) and antidiabetogenic (α‐amylase inhibition, 38.1 ± 0.9%) activities.

CONCLUSION

The fermented whole grain sorghum‐based products could be commercially exploited by the food industry to expand the offer of the three high‐growth markets: gluten‐free products, plant‐based products (products without SM), and functional foods. © 2023 Society of Chemical Industry.
Incidence and prevalence of myasthenia gravis in the United States: A claims‐based analysis
Authors: Rodrigues Ema , Umeh Emeka , Aishwarya  , Navaratnarajah Nizanth , Cole Alexander , Moy Kristin
Published: December 2023

Introduction/Aims

Myasthenia gravis (MG) is a rare neuromuscular disorder with geographically variable prevalence and incidence rates. A global trend of increasing prevalence of MG has been observed in the last few decades, and this study aimed to assess the current prevalence and incidence rates of MG in the United States.

Methods

Data were extracted from the Clarivate Real‐World Data Repository (2016–2021), a US claims and electronic health records database. The prevalence and incidence of MG were calculated for the year 2021 for males and females who were <2, 2–5, 6–11, 12–17, 18–49, 50–64, and ≥65 years of age, using population estimates from the US Census.

Results

The diagnosed prevalence and incidence of MG in the United States in 2021 were calculated to be 37.0 per 100,000 persons and 3.1 per 100,000 persons, respectively. While the incidence and prevalence of MG increased with age in both men and women, higher prevalence and incidence of MG were observed in younger women (<50 years) compared with men of matching age, and in older men (≥65 years) compared with women of the same age group.

Discussion

The updated prevalence and incidence of MG in the United States in 2021 are higher than previous reports from the 1980s and early 2000s, following a global trend of increased prevalence and incidence for this disorder in the last few decades.
What's good for fish is good for fishes: Interspecific consistency of growth, condition, and abundance among glacial lakes
Authors: Euclide Peter T. , Perry Christian , Donabauer Steven B. , Grier Angie , Höök Tomas O.
Published: December 2023

Objective

Fish abundance and growth are regulated by a combination of bottom-up and top-down forces, but many management techniques depend more heavily on the latter. Here, we evaluated whether intersystem variation in nutrient loading and bottom-up forces play more dominant roles in the control of abundance and growth of species across similar lakes than intra- and interspecific compensatory effects. We aimed to assess whether patterns of abundance and growth are consistent among fish species across lakes.

Methods

We tested this by evaluating pairwise comparisons of catch-per-unit-effort, condition, and length-at-age data for 11 common warmwater fish species from 184 mesotrophic and eutrophic glacial lakes in Indiana, United States. We characterized the environmental conditions of each lake using limnological measurements (e.g., chlorophyll-a concentration and surface temperature), lake morphology descriptions (e.g., depth and size), catchment characteristics (e.g., percent agricultural land cover), and nutrient load modeling using the Long-Term Hydrologic Impact Analysis model. Taking a meta-analysis approach, we used effect size calculation from pairwise correlations among lakes to identify environmental and community impacts on species abundance, condition, and length at age.

Result

We demonstrated that there were positive associations among most species comparisons (i.e., multiple species experiencing relatively fast growth in the same lake). Evaluations of environmental conditions among systems suggested that differences in estimated phosphorus input and the limnological measurements of total phosphorus, Secchi depth, and chlorophyll-a concentration were good predictors of length at age and catch per unit effort for fish.

Conclusion

Our results indicated that there is a strong and consistent influence of environmental conditions and bottom-up processes in determining species abundance and growth. This suggests that bottom-up forces and environmental conditions linked to nutrient loading likely determine the upper boundary of fish abundance and growth in these lakes.
Power dynamics and resource dependence: NGO‐government collaboration in Yogyakarta, Indonesia
Authors: Hummel Daniel , Kusumasari Bevaola
Published: December 2023

This study examines the collaboration between non‐governmental organizations (NGOs) and the government in Yogyakarta, Indonesia, to shed light on their dynamics and fill the existing gaps in the literature. Focusing on financial dependence, legitimization, and other motivating factors, this study explores the motivations behind NGO–government collaboration and their practical implications. The utilization of a two‐stage purposive sampling method and conducting interviews with executive directors allowed for a rich and nuanced understanding of the motivations, challenges, and dynamics of NGO‐government collaboration in Yogyakarta, Indonesia. It also uncovers factors such as access to resources, networks, advocacy efforts, and grants and supports that shape collaborative relationships. These findings contribute to the understanding of the relationship between NGOs and the government and provide insights for policymakers and practitioners to foster effective and sustainable partnerships. This study contributes to the existing literature on NGO‐government collaboration and offers valuable implications for future research and policy considerations.
Effect of thermal cycling on open‐hole tensile strength of sustainable composites: An experimental investigation
Authors: Varikkadinmel Binaz , Kaushik Deepak , Singh Inderdeep
Published: December 2023

Sustainable composites are presently employed in applications where structural demands are minimal. Basalt fiber reinforced PLA (BFPLA) and polybutylene succinate (BFPBS) composites, incorporates bio‐based materials, offer the potential to reduce non‐renewable resource consumption and improve end‐of‐life disposal practices. Given the significance of thermal aging in semi‐structural applications and the necessity for open holes (notches) for installation and assembly, little is known about how thermal cycling (TC) affects the open‐hole strength of sustainable composites. This experimental work establishes a quantitative relationship between open‐hole strength and TC, taking into account varying abrasive waterjet pressures, and explores the impacts of thermal aging on the notch sensitivity, thermal, mechanical, and physical properties. BFPBS displayed better unnotched tensile strength and notched strength than pre‐thermal BFPLA specimens after they have been subjected to 100 TC ranging from −20 to 55°C. Thermal aging significantly influenced notch sensitivity, emphasizing its consideration in evaluating notch performance. This research provides a significant contribution to our current understanding of the effects of thermal aging on sustainable composites, enabling their informed application in a variety of industries and the results highlight their promising potential, in particular BFPBS, as strong alternative for medium load applications.

Highlights

Evaluated thermal aging effects on basalt fiber (BF) composites, revealing improved properties in BF/PBS composites after thermal cycles.

Established quantitative link between mechanical behavior and thermal cycling using varying waterjet pressure values.

Basalt fibers enhanced crystallinity and thermal stability of PLA and PBS polymers, showing promise for sustainable composites.

Notch sensitivity impacted by thermal aging, underlining the importance of considering these effects in notch performance evaluation.

BF/PBS composites demonstrated potential as robust alternatives for indoor products and sports equipment.