bluuebunny/crossref_metadata_2025 huggingface dataset:
Isolation and characterization of tannin‐degrading bacteria from the rumen of wild Hokkaido sika deer (Cervus nippon yezoensis)
Authors: Sawabe Yoshihiko , Yamano Hidehisa , Koike Satoshi , Kobayashi Yasuo
Published: January 2024

We isolated tannin‐degrading bacteria from the rumen of wild Hokkaido sika deer and characterized their phylogeny and tannase activity in relation to sample sources. The condensed tannin level was higher in all deer rumen samples (n = 20) than in forage‐fed cattle rumen samples (n = 6), whereas no hydrolyzable tannins were detected in any of the rumen samples. Rumen bacteria were enumerated on nonselective brain heart infusion (BHI) agar medium and then transferred onto tannic acid‐containing BHI agar plates to screen for bacteria only showing growth (tannin‐resistant bacteria) and those showing both growth and a clear zone (tannin‐degrading bacteria). Summer samples provided only tannin‐resistant bacteria, none of which showed tannin‐degrading activity. Although winter samples also provided tannin‐resistant bacteria, most isolates exhibited tannin‐degrading activity. A total of 70 isolates exhibiting tannin‐degrading activity were classified as Streptococcus bovis group based on 16S rRNA gene sequencing and further classified into two groups, either group A or group B. Group A consisted of isolates showing weak tannase activity, whereas group B included a majority of the isolates exhibiting high tannase activity. These results suggest that wild Hokkaido sika deer develop tannin‐degrading Streptococcus in the rumen during winter, which allows access to woody food materials rich in tannins.
A phase II study of ibrutinib in combination with ixazomib in patients with Waldenström macroglobulinaemia
Authors: Parrondo Ricardo D. , Dutta Navnita , LaPlant Betsy R. , Elliott Jamie , Fernandez Andre , Zimmerman Ashley , Cicco Gina , Han Bing , Heslop Keisha , Chapin Dustin , Sher Taimur , Roy Vivek , Rasheed Ahsan , Das Saurav , Chanan‐Khan Asher A. , Paulus Aneel , Ailawadhi Sikander
Published: January 2024

This phase II study evaluated time‐limited (24 cycles) treatment with ibrutinib and ixazomib in newly diagnosed (NDWM; n = 9) and relapsed/refractory (RRWM; n = 12) Waldenström macroglobulinaemia (WM). The overall response rate (ORR) was 76.2% (n = 16) in 21 evaluable patients with no patient achieving a complete response (CR). The median duration of treatment was 15.6 months, and after a median follow‐up time of 25.7 months, the median progression‐free survival (PFS) was 22.9 months. While the primary end‐point was not met (CR rate at any time) and 28.5% discontinued treatment due to toxicity, ibrutinib plus ixazomib led to a clinically meaningful ORR and PFS. Combined Bruton's tyrosine kinase (BTK) and proteasome inhibition merits further evaluation in WM.
Circular RNA circWNK1 inhibits the progression of gastric cancer via regulating the miR‐21‐3p/SMAD7 axis
Authors: Dai Ting , Qiu Shengkui , Gao Xuesong , Zhao Chengjin , Ge Zhenming , Yang Yanmei , Tang Chong , Feng Shichun
Published: January 2024

Gastric cancer (GC) is a highly aggressive malignancy with limited treatment options for advanced‐stage patients. Recent studies have highlighted the role of circular RNA (circRNA) as a novel regulator of cancer progression in various malignancies. However, the underlying mechanisms by which circRNA contributes to the development and progression of GC remain poorly understood. In this study, we utilized microarrays and real‐time quantitative polymerase chain reaction (qRT‐PCR) to identify and validate a downregulated circRNA, hsa_circ_0003251 (referred to as circWNK1), in paired GC and normal tissues. Through a series of in vitro and in vivo gain‐of‐function and loss‐of‐function assays, we demonstrated that circWNK1 exerts inhibitory effects on the proliferation, migration, invasion, and epithelial–mesenchymal transition (EMT) of GC cells. Additionally, we discovered that circWNK1 acts as a competitive endogenous RNA (ceRNA) for SMAD7 by sequestering miR‐21‐3p. Our findings were supported by comprehensive biological information analysis, as well as RNA pull‐down, luciferase reporter gene, and western blot assays. Notably, the downregulation of circWNK1 in GC cells resulted in reduced SMAD7 expression, subsequently activating the TGF‐β signaling pathway. Collectively, our study reveals that circWNK1 functions as a tumor suppressor in GC by regulating the miR‐21‐3p/SMAD7‐mediated TGF‐β signaling pathway. Furthermore, circWNK1 holds promise as a potential biomarker for the diagnosis and treatment of GC.
Inhibition of O6‐methylguanine‐DNA‐methyltransferase (MGMT) by lomeguatrib reduces multiple myeloma cell viability and impairs DNA repair in MGMT‐proficient cells
Authors: Akcora‐Yildiz Dilara , Ozkan Tulin , Cetintav Bekir , Yukselten Yunus , Calis Seyma , Sevim‐Nalkiran Hatice , Turkel Nezaket , Gunduz Mehmet , Ozen Mehmet , Beksac Meral , Sunguroglu Asuman
Published: January 2024

The function of direct DNA damage repair protein, namely MGMT in MM, and the impact of MGMT on melphalan treatment remains unclear. We showed a significantly higher MGMT mRNA expression in CD138+ myeloma cells than in matched CD138‐nontumorigenic cells derived from newly diagnosed and relapsed/refractory MM patients using qPCR. However, using gene expression databases, a similar expression of MGMT was observed during disease progression. MGMT depletion by its specific inhibitor lomeguatrib reduced myeloma cell viability, impaired S phase entry and DNA repair, and increased DNA damage and apoptosis. Apoptosis and DNA damage were further elevated by combined treatment with lomeguatrib and melphalan in RPMI 8226 cells. This is the first study demonstrating MGMT inhibition enhances DNA damage‐induced apoptosis and melphalan cytotoxicity in MGMT‐proficient MM cells and suggesting using lomeguatrib might have clinical importance in treating MM and overcoming melphalan resistance in MGMT‐proficient patients.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Authors: Malbos Marlène , Wakeling Emma , Gautier Thierry , Boespflug‐Tanguy Odile , Busby Louise , Taylor‐Miller Tashunka , Dudoignon Benjamin , Bokov Plamen , Govin Jérôme , Grisval Margot , Rega Adélaïde , Mourot De Rougemont Marie‐Gabrielle , Aubriot‐Lorton Marie‐Hélène , Darmency Véronique , Bensignor Candace , Houzel Anne , Huet Frédéric , Denommé‐Pichon Anne‐Sophie , Delanne Julian , Tran Mau‐Them Frédéric , Bruel Ange‐Line , Safraou Hana , Nambot Sophie , Garde Aurore , Philippe Christophe , Duffourd Yannis , Vitobello Antonio , Faivre Laurence , Thauvin‐Robinet Christel
Published: January 2024

Achaete‐Scute Family basic‐helix–loop–helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the central and peripheral nervous system. While initially suspected to contribute to congenital central hypoventilation syndrome‐1 (CCHS) with or without Hirschsprung disease (HSCR) in three individuals, its implication was ruled out by the presence, in one of the individuals, of a Paired‐like homeobox 2B (PHOX2B) heterozygous polyalanine expansion variant, known to cause CCHS. We report two additional unrelated individuals sharing the same sporadic ASCL1 p.(Glu127Lys) missense variant in the bHLH domain and a common phenotype with short‐segment HSCR, signs of dysautonomia, and developmental delay. One has also mild CCHS without polyalanine expansion in PHOX2B, compatible with the diagnosis of Haddad syndrome. Furthermore, missense variants with homologous position in the same bHLH domain in other genes are known to cause human diseases. The description of additional individuals carrying the same variant and similar phenotype, as well as targeted functional studies, would be interesting to further evaluate the role of ASCL1 in neurocristopathies.
Textile printing: An integrated view of processes, properties, and future prospects
Authors: Rainert Karine Thaise , de Oliveira Carlos Rafael Silva , Felipe Brenno Henrique Siva , Herpich Heiderose , Valle Rita de Cássia Siqueira Curto , Valle José Alexandre Borges
Published: January 2024

Textile printing processes consist of the localised application of colour on textile substrates to obtain well‐defined designs and patterns. Currently, there are many textile printing techniques; however, the limitations and selectivity of these techniques still keep the printing method of rotary screen printing the most important and used among them. One of the advantages of rotary printing is its excellent application versatility, which can be used for any fabric and non‐wovens, fibre, or mixtures, with high production speed, quality, colour fastness, and definition. However, due to its high complexity, rotary printing requires great technical knowledge. Rotary printing requires specific application care depending on the fabric structure, fibrous composition, grammage, and type of intended effect. Regardless of the technique used, printed articles need to ensure that the colour remains attached to the substrate, either by direct dye–fibre or indirect pigment–binder–fibre bonding, to resist the conditions of use, that is, light, abrasion, stretching, and washing. The rise in recent publications reflects the search for economic and sustainable textile printing alternatives, focusing on screen printing variables. Based on this, this review aimed to present a comprehensive guide containing all the care and essential technical information for processes based on rotary printing.
Neurological assessment tool for screening infants during the first year after birth: The Brief‐Hammersmith Infant Neurological Examination
Authors: Romeo Domenico M. , Velli Chiara , Sini Francesca , Pede Elisa , Cicala Graziamaria , Cowan Frances M. , Ricci Daniela , Brogna Claudia , Mercuri Eugenio
Published: January 2024

Aim

To develop a short version of the original Hammersmith Infant Neurological Examination (HINE) to be used as a screening tool (Brief‐HINE) and to establish if the short examination maintains good accuracy and predictive power for detecting infants with cerebral palsy (CP).

Method

Eleven items were selected from the original HINE (‘visual response’; ‘trunk posture’; ‘movement quantity’; ‘movement quality’; ‘scarf sign’; ‘hip adductor angles’; ‘popliteal angle’; ‘pull to sit’; ‘lateral tilting’; ‘forward parachute reaction’; ‘tendon reflexes’) identifying those items previously found to be more predictive of CP in both low‐ and high‐risk infants. In order to establish the sensitivity of the new module, the selected items were applied to existing data, previously obtained using the full HINE at 3, 6, 9, and 12 months, in 228 infants with typical development at 2 years and in 82 infants who developed CP.

Results

Brief‐HINE scores showed good sensitivity and specificity, at each age of assessment, for detecting infants with CP. At 3 months, a score of less than 22 was associated with CP with a sensitivity of 0.88 and a specificity of 0.92; at 6, 9, and 12 months, the cut‐off scores were less than 25 (sensitivity 0.93; specificity 0.87), less than 27 (sensitivity 0.95; specificity 0.81), and less than 27 (sensitivity 1; specificity 0.86) respectively. The presence of more than one warning sign, or items that are not optimal for the age of assessment, imply the need for a full examination reassessment.

Interpretation

These findings support the validity of the Brief‐HINE as a routine screening method and the possibility of its use in clinical practice.
Neo‐Confucianism and the rise of science and technology in Medieval China
Authors: Dong Baomin , Cheng Bowen
Published: January 2024

The Song dynasty (960–1279 A.D.) witnessed a surge of scientific and technological development, notably in mechanical engineering, metallurgy, shipbuilding and nautics, civil engineering, manufacturing, etc. At the same time, Neo‐Confucianism, which advocated ‘upholding heavenly principle and annihilating human desire’, flourished in Song time. The rise of Neo‐Confucianism as a conservative movement appeared fundamentally at odds with the splendid technological achievements in Medieval China. To address the question, we dismantle the notion of Neo‐Confucianism in the Song dynasty context by constructing the indices of the Neo‐Confucian spirit characterized by the pursuit of principle (li), broad learning, and scepticism on the basis of Song Confucian works recorded in the Records of Song and Yuan scholarship (Song Yuan xue an). Our results show that the popularity of Neo‐Confucianism facilitated the development of science and technology during the Song period. Using historical Confucian academy data compiled from several extensive surveys, we show that the vigorous development of the Confucian academies served as a channel to propagate the Neo‐Confucian spirit in a locality, thereby influencing the scientific and technological output of the Song era.
Sphingosine 1‐phosphate signaling axis mediates neuropeptide S‐induced invasive phenotype of endometriotic cells
Authors: Prisinzano Matteo , Bernacchioni Caterina , Seidita Isabelle , Rossi Margherita , Raeispour Maryam , Cencetti Francesca , Vannuccini Silvia , Fambrini Massimiliano , Petraglia Felice , Bruni Paola , Donati Chiara
Published: January 2024

Endometriosis is a chronic gynecological syndrome characterized by endometrial cell invasion of the extra‐uterine milieu, pelvic pain and infertility. Treatment relies on either symptomatic drugs or hormonal therapies, even though the mechanism involved in the onset of endometriosis is yet to be elucidated. The signaling of sphingolipid sphingosine 1‐phosphate (S1P) is profoundly dysregulated in endometriosis. Indeed, sphingosine kinase (SK)1, one of the two isoenzymes responsible for S1P biosynthesis, and S1P1, S1P3 and S1P5, three of its five specific receptors, are more highly expressed in endometriotic lesions compared to healthy endometrium. Recently, missense coding variants of the gene encoding the receptor 1 for neuropeptide S (NPS) have been robustly associated with endometriosis in humans. This study aimed to characterize the biological effect of NPS in endometriotic epithelial cells and the possible involvement of the S1P signaling axis in its action. NPS was found to potently induce cell invasion and actin cytoskeletal remodeling. Of note, the NPS‐induced invasive phenotype was dependent on SK1 and SK2 as well as on S1P1 and S1P3, given that the biological action of the neuropeptide was fully prevented when one of the two biosynthetic enzymes or one of the two selective receptors was inhibited or silenced. Furthermore, the RhoA/Rho kinase pathway, downstream to S1P receptor signaling, was found to be critically implicated in invasion and cytoskeletal remodeling elicited by NPS. These findings provide new information to the understanding of the molecular mechanisms implicated in endometriosis pathogenesis, establishing the rationale for non‐hormonal therapeutic targets for its treatment.
Sensitivity and specificity of Yubi‐wakka (finger‐ring) screening method for sarcopenia among older Thai adults
Authors: Lawongsa Kasidid , Srisuwan Patsri , Tejavanija Sirakarn , Gesakomol Kulachade
Published: January 2024

Aim

The aim of this study was to validate a Yubi‐wakka (finger‐ring) test to identify older adults at risk for sarcopenia. Generally, measurements of muscle mass are considered to be a gold standard for testing for sarcopenia; such measurements are typically attained using bioelectrical impedance analysis (BIA) or dual‐energy X‐ray absorptiometry (DXA). However, the Yubi‐wakka test is a simple assessment that can also be used to screen for sarcopenia.

Methods

An analytic cross‐sectional study was conducted to determine the sensitivity and specificity of the Yubi‐wakka test. The study cohort included 230 adults older than 60 years who had no disabilities or handicaps and who visited the outpatient department of Phramongkutklao Hospital. Each participant underwent the Yubi‐wakka test, a handgrip strength test, the 5‐chair stand test, and BIA. We analyzed the associations between the Yubi‐wakka test results and sarcopenia. The findings were compared with diagnoses that followed from the Asian Working Group for Sarcopenia 2019.

Results

The test results were statistically associated with sarcopenia (“just fits” odds ratio [OR]: 8.55, 95% confidence interval [CI]: 3.29–22.18, and “smaller” OR: 10.73, 95% CI: 4.31–26.73, relative to “bigger”). The sensitivity and specificity of the Yubi‐wakka test in men were 85.7% and 71.2% (area under the curve [AUC]: 0.785, 95% CI: 0.618–0.952), respectively. For women, the sensitivity and specificity of the test were 87.5% and 80.8% (AUC: 0.842, 95% CI: 0.764–0.919), respectively.

Conclusions

The Yubi‐wakka test is a practical way of identifying the risk of sarcopenia among the elderly; it exhibits promising sensitivity and specificity. Geriatr Gerontol Int 2024; 24: 263–268.
MotherHack: Creative coding as an artist‐mother
Authors: Putnam EL
Published: January 2024

Enmeshed in the materiality of caregiving, becoming a mother changes how one relates to the world and others. These changes involve how a mother as subject is defined by others through cultural and societal idealizations of motherhood and parenting norms, but also through the leaking boundaries between the mother and other subjects as she is attuned to the needs of caregiving. In this analysis, I consider maternal subjectivity in terms of working as an artist‐mother, defined as an artist who is also a mother and whose practice does not distinguish between these roles. In particular, I focus on the process of my development of a creative coding project, Emergent, during the COVID‐19 pandemic. Through this analysis of the process of developing Emergent, I attend to the questions of maternal subjectivity that arose through its production, drawing from the embodied experiences of working as an artist‐mother, in order to understand maternal subjectivity through the practice of computation. Here the work of producing art becomes the means of considering maternal subjectivity differently through embodied experience, as the labor affiliated with care‐giving is entangled with the process of art making.
Creating safer cancer care with ethnic minority patients: A qualitative analysis of the experiences of cancer service staff
Authors: Chauhan Ashfaq , Newman Bronwyn , Manias Elizabeth , Joseph Kathryn , Leone Desiree , Walpola Ramesh L. , Seale Holly , Smith Allen Ben , Harrison Reema
Published: January 2024

Introduction

Effective consumer engagement practices can enhance patient safety. This is important for consumers from ethnic minority backgrounds who are exposed to increased risk of patient safety events. Using the Systems Engineering Initiative for Patient Safety model, this study explored staff experiences of creating opportunities for engagement with consumers from ethnic minority backgrounds to contribute to their cancer care safety.

Method

A qualitative study was conducted using semistructured interviews with cancer service staff from four cancer services across two states in Australia. Purposive sampling was used to recruit healthcare staff from a diverse range of professions. Data were analysed using the Framework Analysis method.

Results

Fifty‐four interviews were conducted with healthcare staff. Analysis of the qualitative interview data identified enablers and associated challenges that contributed to creating a shared understanding between consumers and staff of the information, processes, expectations and problems arising in care. Enablers and challenges are reported in relation to four themes: (1) co‐creating safety through shared understanding of care processes; (2) tools and technologies support planned communication; (3) organisational policy levers exist but lack implementation in direct care and (4) formal tasks incorporate consumer engagement more readily than informal interactions.

Conclusion

The availability of infrastructure and resources to support communication with consumers from ethnic minority backgrounds was limited to specific tasks across the cancer care continuum. Strategies implemented by health services to foster effective communication during formal interactions now require expansion to support and create conditions for effective consumer engagement during informal and everyday care tasks. The use of innovative language support tools and cultural considerations are required at the service and system level to support consumer engagement in all types of care interactions.

Public and Patient Involvement

The study was embedded within a larger project that included a consumer investigator and was guided by a consumer advisory group (CAG). These consumer team members have lived experience of cancer and are from diverse ethnic backgrounds. CAG members provided feedback on the draft interview guide and participant information for this study.
PD‐L1 expression in resected lung adenocarcinoma: prevalence and prognostic significance in relation to the IASLC grading system
Authors: Hwang Soohyun , Hong Tae Hee , Kim Hong Kwan , Cho Juhee , Lee Genehee , Choi Sangjoon , Park Sehhoon , Lee Se‐Hoon , Lee Yoonseo , Jeon Yeong Jeong , Lee Junghee , Park Seong Yong , Cho Jong Ho , Choi Yong Soo , Kim Jhingook , Zo Jae Il , Shim Young Mog , Choi Yoon‐La
Published: January 2024

Aims

Programmed death‐ligand 1 (PD‐L1) expression is a predictive biomarker for adjuvant immunotherapy and has been linked to poor differentiation in lung adenocarcinoma. However, its prevalence and prognostic role in the context of the novel histologic grade has not been evaluated.

Methods

We analysed a cohort of 1233 patients with resected lung adenocarcinoma where PD‐L1 immunohistochemistry (22C3 assay) was reflexively tested. Tumour PD‐L1 expression was correlated with the new standardized International Association for the Study of Lung Cancer (IASLC) histologic grading system (G1, G2, and G3). Clinicopathologic features including patient outcome were analysed.

Results

PD‐L1 was positive (≥1%) in 7.0%, 23.5%, and 63.0% of G1, G2, and G3 tumours, respectively. PD‐L1 positivity was significantly associated with male sex, smoking, and less sublobar resection among patients with G2 tumours, but this association was less pronounced in those with G3 tumours. PD‐L1 was an independent risk factor for recurrence (adjusted hazard ratio [HR] = 3.25, 95% confidence intervals [CI] = 1.93–5.48, P < 0.001) and death (adjusted HR = 2.69, 95% CI = 1.13–6.40, P = 0.026) in the G2 group, but not in the G3 group (adjusted HR for recurrence = 0.94, 95% CI = 0.64–1.40, P = 0.778).

Conclusion

PD‐L1 expression differs substantially across IASLC grades and identifies aggressive tumours within the G2 subgroup. This knowledge may be used for both prognostication and designing future studies on adjuvant immunotherapy.
The assessment of bacterial diversity in CO2 treated and untreated raw milk during cold storage using high‐throughput sequencing technology
Authors: Huang Juan , Yao Qing‐bo , Feng Li‐ke , Peng Xiao‐xia , Fei Yong‐tao , Huang Yan‐yan
Published: January 2024

Carbon dioxide (CO2) has the potential to extend the storage time of raw milk, but its industrial application in this regard has not been thoroughly explored. This study aimed to investigate the microflora of CO2‐treated and untreated raw milk from South China using Illumina sequencing. The sequencing results confirmed the presence of Delftia, Pseudomonas and Serratia as the main spoilage species in raw cow milk from South China. However, CO2 treatment was found to selectively inhibit the growth of these spoilage bacteria. Principal coordinate analysis revealed differences in the microbiota structures of samples collected from the Fuyi and Guanyuan sites. Additionally, a total of 119 and 120 bacterial species were identified in the Fuyi and Guanyuan samples, respectively. The spoilage of raw milk from the Fuyi and Guanyuan was delayed by 7 and 19 days, respectively, with the application of CO2 treatment. Conversely, the samples without CO2 treatment were found to be contaminated with Pseudomonas fluorescens and Serratia. Moreover, the CO2‐treated samples from the Fuyi and Guanyuan ranches exhibited a different composition of spoilage bacteria, with a significant increase in the number of lactic acid bacteria (LAB) compared to the control samples. This study suggests that LAB have a remarkable tolerance to CO2, which is consistent with their selection in fruit, vegetable and meat products stored in CO2‐enriched modified atmosphere packaging. The findings of this study provide a foundation for further exploration of the potential application of CO2 treatment in raw milk processing.
Small molecular sugars effect on the pasting and retrogradation of Mesona chinensis polysaccharide/starch complexes
Authors: Su Yu‐Bin , Zhang Jiawei , Huang Kaijiao , Xie Nengzhong
Published: January 2024

Small molecular sugars have gained substantial attention as common food additives for anti‐retrogradation of starch. However, the effect of small molecular sugars on the pasting and retrogradation behaviours of starchy foods with complex components is different from that of native starch owing to the interaction between different components. In this study, the pasting and retrogradation behaviours of Mesona chinensis polysaccharide/starch complexes combined with different sugars (trehalose, glucose, sucrose and lactose) were investigated by Fourier transform infrared spectroscopy (FT‐IR), X‐ray diffraction (XRD), scanning electron microscopy (SEM), texture profile analysis (TPA), rapid viscometer analysis (RVA) and differential scanning calorimetry (DSC). SEM showed that the complex gel systems with various sugars exhibited smoother lamellar surfaces and profiles than those of the control group after refrigeration. RVA and DSC demonstrated that the addition of sugars significantly affected the pasting of the composite gel system. TPA, FT‐IR, XRD and SEM revealed that glucose, sucrose and lactose effectively inhibited the retrogradation of the composite gel system and that glucose was a candidate for inhibition of the retrogradation of the complex gel system. Additionally, the water separation of the composite gel system with sugars was lower than that of the control group after five cycles of alternating freezing and thawing, indicating that the sugars improved the freeze‐thaw stability of the composite gel system. These results provide a theoretical direction for the use of additives in the retrogradation of starchy foods containing multiple components.
Severe combined immunodeficiency diagnosis and genetic defects
Authors: Aranda Carolina Sanchez , Gouveia‐Pereira Mariana Pimentel , da Silva Celso Jose Mendanha , Rizzo Maria Candida Faria Varanda , Ishizuka Edson , de Oliveira Edgar Borges , Condino‐Neto Antonio
Published: January 2024

Severe combined immunodeficiency (SCID) is a rare and life‐threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the “bubble boy” disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells. These immune cells are essential for identifying and fighting off infections caused by viruses, bacteria, and fungi. In SCID patients, the immune system is virtually non‐existent, leaving them highly susceptible to recurrent, severe infections. There are several forms of SCID, with varying degrees of severity, but all share common features. Newborns with SCID often exhibit symptoms such as chronic diarrhea, thrush, skin rashes, and persistent infections that do not respond to standard treatments. Without prompt diagnosis and intervention, SCID can lead to life‐threatening complications and a high risk of mortality. There are over 20 possible affected genes. Treatment options for SCID primarily involve immune reconstitution, with the most well‐known approach being hematopoietic stem cell transplantation (HSCT). Alternatively, gene therapy is also available for some forms of SCID. Once treated successfully, SCID patients can lead relatively normal lives, but they may still require vigilant infection control measures and lifelong medical follow‐up to manage potential complications. In conclusion, severe combined immunodeficiency is a rare but life‐threatening genetic disorder that severely compromises the immune system's function, rendering affected individuals highly vulnerable to infections. Early diagnosis and appropriate treatment are fundamental. With this respect, newborn screening is progressively and dramatically improving the prognosis of SCID.
Acknowledging Identity and Intersectionality—A Transformative Framework for Design Education Futures
Authors: St John Nicola , Suhendra Fanny
Published: January 2024

Design education in Australia is still largely dominated by Westphalian perspectives, values, histories and ways of learning. The focus on Euro‐western aesthetics, technologies, timelines and processes marginalises other identities, cultures and places. This signals to students that they should internalise, value and master dominant narratives, knowledges and ways of designing. Responding to this legacy, this article details the development of an intersectional and transformative framework to guide pedagogy for design education futures. Drawing from intersectional, student‐centred and transformative learning theories, we argue that students can develop self‐awareness and critical evaluation skills through understanding and designing within their own histories and cultures. In applying our framework, we reflect on how we developed a communication design history curriculum that centres on previously marginalised designers and prioritises pluralistic work that comes out of diverse cosmologies, perspectives and points of view. Early results demonstrate that offering spaces for students to connect design to their own intersectional identities increases self‐reflection and belonging, while engaging students to contribute new knowledges and perspectives to design history than we have had in the past. We hope this framework contributes to design education moving towards and respecting expanded ways of thinking, seeing and teaching design.
What if Walter Gropius were a Woman: Alternative Design History Teaching Experiment
Authors: Zhang Li , Liu Yujia , Wu Youtian
Published: January 2024

As one of the most literary and transdisciplinary cultural practices, speculative design has become one of the best mediums for discussing emerging technologies, the Anthropocene and the ecological crisis. When design history is merely perceived as established knowledge about the past and fails to engage in dialogue with reality or individual interaction, it often struggles to inspire students' agency in learning and willingness to deep involvement in research. Alternative design history, however, serves as a type and method of historiography that actively constructs history and alternatively imagines the past. It aims to situate historical knowledge as the context for design problem exploration rather than an end goal of education. This approach guides educators and learners to co‐speculate on historical design knowledge. By ‘reversing’ specific elements of historical experience, such as gender mentioned in this article, and employing alternative imagination to form what‐if scenarios and pose inquiries about existing historical facts, a distinct form of ‘counterfactual history’ emerges that diverges notably from traditional design history. Throughout speculation within ‘counterfactual history’, students can distinguish between historical facts and realities, which enables students to comprehend the construction of historical knowledge, the individuality of historical narratives, and the standpoint of historical discourse. In this way, it helps students cultivate a historical interest that ‘starts from the self’, guiding them to foster resilient historical thinking and a critical awareness of reality.
Palaearctic origin and repeated dispersal over the world shaped the biogeographic history of the saprophytic genus Coprinopsis (Psathyrellaceae, Basidiomycota)
Authors: Schünemann Bárbara Letícia Botura , Reginato Marcelo , da Silveira Rosa Mara Borges
Published: January 2024

Aim

The biogeographic history of most fungi is still poorly known, as well as the patterns and processes responsible for their diversification. Recent studies uncovered that most fungi have originated and present higher diversification rates in the temperate zone. The distributional pattern known for fungi is also different from many plants, animals and microbes. Using the most comprehensive phylogeny of the saprotrophic genus Coprinopsis, we aim to infer the biogeographic history and test evolutionary hypotheses in the genus.

Location

Worldwide.

Taxon

Fungi, Basidiomycota, Psathyrellaceae, Coprinopsis.

Methods

We used a four‐gene alignment with 100 species to estimate divergence times using two fossil calibrations within Agaricales. The chronograms were used to estimate diversification rates and geographic state‐dependent models were applied. We further reconstructed the ancestral range history of the genus.

Results

Molecular dating estimated that the genus has diverged ca. 41 Ma (Eocene) and was originated in the Palaearctic region. Diversification rates showed a decreasing pattern towards the present across Coprinopsis, especially after the Miocene (ca. 14 Ma). The diversification models dependent on distribution showed cosmopolitan lineages with a higher net‐diversification rates. When we compared temperate and tropical regions, we found that temperate lineages have higher net‐diversification rates. The biogeographic history of Coprinopsis estimated different routes of dispersal. The most common dispersal route was from Palaearctic to the Nearctic (15 times), followed by Palaearctic to the Neotropics (14 times).

Main Conclusions

The study is the first to estimate the diversification rates and the historical biogeography of the coprinoid genus Coprinopsis. The diversification dynamics estimates in Coprinopsis are in agreement with the ‘generalized diversification rates model’, where we found higher diversification rates in temperate regions compared with tropical regions. In general, the ancestral area and major dispersals routes recovered in the genus are similar to findings in other groups of fungi.
Assessing the impact of atrial fibrillation on symptoms and quality of life in hypertrophic cardiomyopathy
Authors: Rowin Ethan J. , Wadid Mark , Maron Martin S. , White Maggie , Hook Bruce G. , Harnish Paul , Silver Jonathan S. , Reynolds Matthew R. , Maron Barry J.
Published: January 2024

Introduction

In hypertrophic cardiomyopathy (HCM), atrial fibrillation (AF) has historically been regarded to have a deleterious impact on clinical course, strongly associated with progressive heart failure (HF) symptoms. However, there is a paucity of information regarding the impact of AF on HCM employing validated quality of life (QoL) surveys. Therefore, we evaluated the impact of AF on QoL utilizing patient reported outcome measures (PROMs).

Methods

218 consecutive HCM patients with or without AF at the Lahey HCM center in 2022 completed PROMs at their most recent visit evaluating HF (Kansas City Cardiomyopathy Questionnaire [KCCQ]) and AF symptoms (AF Effect on QoL [AFEQT]).

Results

Among the 218 patients, 50 (23%) had a history of AF and comprise the primary study cohort. AF was diagnosed at 55 ± 10 years of age, median of 5.5 years before PROM, with 66% of patients treated with a rhythm control strategy with antiarrhythmic drug and/or AF ablation. AFEQT indicated that 52% of patients experienced no or minimal AF‐related disability, mild to moderate in 22%, and severe in 26%. There was no substantial difference in HCM phenotype in patients with no or minimal AF disability compared to those with severe disability.

HF symptoms for most HCM patients with prior AF history was consistent with no or minimal (59%) or only mild (27%) disability as measured by KCCQ overall summary scores. In addition, with multivariate analysis, AF history was associated with less HF symptoms and improved QoL (OR 0.4, p = 0.02).

Conclusion

In contrast to prior perceptions, HCM patients with prior AF history were less likely to incur HF symptoms impairing QoL compared to HCM patients without AF. After treatment, prior history of AF did not substantially impact current QoL. These data provide a realistic appraisal for the impact that AF has on HCM patients and also offers a measure of reassurance for this patient subgroup.
Diagnostic accuracy of ultraviolet‐induced fluorescence dermoscopy in non‐neoplastic dermatoses (general dermatology): A multicentric retrospective comparative study
Authors: Errichetti Enzo , Pietkiewicz Paweł , Bhat Yasmeen J. , Salwowska Natalia , Szlązak Piotr , Stinco Giuseppe
Published: January 2024

Background

Preliminary data support the possible use of ultraviolet‐induced fluorescence (UVF) dermoscopy in general dermatology, yet no accuracy analysis has been performed so far.

Objective

To evaluate diagnostic accuracy of UVF dermoscopy in clinically similar non‐neoplastic conditions as compared to polarized light‐based dermoscopy.

Methods

Patients with dermatoses potentially showing UV‐induced findings were considered; cases were grouped according to clinical patterns and controls were also included. Standardized evaluation of dermoscopic pictures of the target lesion along with comparative and accuracy analysis were performed for polarized and UVF dermoscopic findings.

Results

A total of 208 patients were included [31 foot intertrigo (7 due to Pseudomonas, 13 due to Corynebacterium and 11 due to dermatophytes); 57 intertrigo of major creases (18 inverse psoriasis, 13 erythrasma, 15 tinea infections and 11 candidiasis); 16 acne (papulopustular) and 13 Malassezia folliculitis; 46 papulosquamous dermatoses (14 guttate psoriasis, 11 lichen planus, 12 pityriasis rosea and 9 pityriasis lichenoide chronica); and 45 hypopigmented macular dermatoses of the trunk (9 progressive macular hypomelanosis, 9 idiopatic guttate hypomelanosis, 13 vitiligo and 14 achromic pityriasis versicolor)]. Significant (p < 0.01) UVF was seen in several conditions: green in Pseudomonas foot intertrigo; red in Corynebacterium foot intertrigo, inverse and guttate psoriasis (arranged around dermal papillae in the former), progressive macular hypomelanosis (folliculocentric distribution) and erythrasma (showing polygonal or structureless appearance); blue fluorescent concretions along hair shaft in erythrasma; light green in achromic pityriasis versicolor and tinea of major creases; and blue follicular in Malassezia folliculitis. Additionally, both acne and achromic pityriasis versicolor were also associated with interruption of uniform follicular red fluorescence. Notably, polarized and UVF dermoscopy were related to the most accurate feature in nine and eight analysed dermatoses, respectively.

Conclusions

UVF dermoscopy improves recognition of non‐neoplastic dermatoses, yet it should be considered complimentary to polarized light‐based dermoscopy to increase diagnostic performance.
RETRACTED: Sustainable stakeholder participation planning on the basis of analysis of competing project interest
Authors: Sivalingam Chandhini , Ramaswamy Raju
Published: January 2024

Sustainability has become more than just an aspiration in business. It has become an integral part of business strategy and decision‐making. Organizations have realized that adhering to sustainability with its impact on multi‐facets can drive business success. Long‐term growth requires an understanding of the relationships between people and their surroundings. Engagement of stakeholders is essential for planning, designing, implementing, and ensuring the efficacy of programmes. Due to the requirement for sustainability and the engagement of a greater stakeholder range in project planning, the project plan complexity is growing. The lack of or insufficient engagement of stakeholders throughout the project life cycle, particularly in the early phases of implementation and planning, frequently has a detrimental effect on the intended project performance. Effective stakeholder engagement is essential to counterbalance the combined effects of a lack of contextual knowledge by stakeholders and a lack of support in the field. However, this integration encounters difficulties such as resource restrictions and competing stakeholder interests. To encourage stakeholder engagement with the initiatives, project resources may be allocated based on the relative importance of competing areas. This study intends to establish a Stakeholder Engagement Framework (SEF) to increase the effectiveness of stakeholder engagement in projects by systematically evaluating potential conflicts and integrating the perspectives of stakeholders and the project management team. To do this, we use fuzzy logic inputs to account for ambiguities throughout the project life cycle, as well as stakeholder theory, value‐based management, matrix‐based dependency modeling, and total quality management to provide a framework for stakeholder participation. Then we implement the suggested SEF methodology to organize stakeholder participation for a green building project. The suggested framework will promote stakeholder participation under long‐term goals for project managers by identifying potential conflicts of interest.
Geographical distribution of emerging cacao mosaic disease caused by cacao mild mosaic virus (Badnavirus tesellotheobromae) in Indonesia
Authors: Kandito Argawi , Hartono Sedyo , Trisyono Y. Andi , Somowiyarjo Susamto
Published: January 2024

Indonesia is the third largest cocoa producer in the world with annual export value of more than 1.2 million USD. However, cacao production in Indonesia has decreased by approximately 50% in the last decade due to socioeconomic issues and the high prevalence of pests and diseases. Cacao mosaic disease caused by cacao mild mosaic virus (Badnavirus teselotheobromae, CMMV) is currently emerging in Indonesia. This study aims to map the distribution of CMMV in cacao‐growing areas in Indonesia. Samples were collected in 2021–2023 in Java, Sumatera, Bali, and Sulawesi, which represent major cacao‐growing areas in Indonesia. We successfully detected CMMV from all samples, indicating CMMV is already distributed widely in Indonesia. Sequencing data suggests the Indonesian isolates have a common ancestor with American isolates. These findings provide new information for the quarantine board, government, and industry to arrange the policy to control the emerging CMMV.
Neighbourhood deprivation and access to early intervention and support for families of children with intellectual and developmental disabilities
Authors: Laxton Sophie , Moriarty Caitlin , Sapiets Suzi J. , Hastings Richard P. , Totsika Vasiliki
Published: January 2024

Ensuring families of children with intellectual and/or developmental disabilities (e.g., developmental delay, intellectual disability, autism) can access early intervention and support is important. Current research indicates there are family‐level socioeconomic disparities of access to early intervention and support, however, there is limited evidence on the relationship between neighbourhood‐level socioeconomic deprivation and access to support. Therefore, the aim of this study was to examine the relationship between neighbourhood deprivation and families' access to and unmet need for early intervention and support. We collected cross‐sectional data using a survey of 673 parental caregivers of young children with suspected or diagnosed intellectual and/or developmental disabilities in the UK. Multiple regression models were fitted for three early intervention and support outcome variables: access to early intervention; access to services across education, health, social care, and other sectors; and unmet need for services. Each regression model included a neighbourhood deprivation variable based on the index of multiple deprivation and five control variables: family‐level economic deprivation, country, caregivers' educational level, developmental disability diagnosis, and informal support sources. Neighbourhood deprivation was a significant independent predictor of access to services, but neighbourhood deprivation was not a significant predictor of access to early intervention or unmet need for services. Families living in the most deprived neighbourhoods accessed fewer services than other families. Socioeconomic disparities of access to early intervention and support, at both a neighbourhood and family level, exist for families of young children with suspected or diagnosed intellectual and/or developmental disabilities in the UK. Future research should focus on policy and other interventions aimed at addressing socioeconomic disparities at the neighbourhood and family level, to ensure equitable access to early intervention and support.
Healthcare access and delivery for people with intellectual and developmental disability in the United States: Policy, payment, and practice considerations
Authors: Bonardi Alexandra (Alixe) , Abend Susan L. , Ne'eman Ari
Published: January 2024

Over 7.5 million people (approximately 2% of the US population) with intellectual and developmental disability live in the United States with the vast majority living in the community and accessing healthcare from the general healthcare system. For over two decades, there has been a national recognition that people with IDD experience poorer health outcomes and experience barriers in access to healthcare. We describe the important legal and financial frameworks that influence access to health care for people with IDD in the US, including a summary of major federal laws and insurance programs that have shaped the landscape of health and social care in the community, evolving trends in payment models, and the risks and benefits of these models. Further, we provide a description of health care delivery models which have been developed to support healthcare for people with disabilities including coordinated care delivery models. Clinical training and support for non‐clinicians to attend to the particular health care needs of the population with IDD is critical yet is not widely available. Additionally, there remain significant access and quality gaps in healthcare for people with IDD. We conclude with a call for advances in health care quality, access and efforts to advance research and data collection to promote health equity for this population.