bluuebunny/crossref_metadata_2025 huggingface dataset:
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology
Authors: Owens Joshua w. , Hopkin Robert J. , Martin Lisa J. , Kodani Andrew , Simpson Brittany N.
Published: November 2023

Introduction: Joubert syndrome (JS) arises from defects of primary cilia resulting in potential malformations of the brain, kidneys, eyes, liver, and limbs. Several of the 35+ genes associated with JS have recognized genotype/phenotype correlations, but most genes have not had enough reported individuals to draw meaningful conclusions.

Methods: A PubMed literature review identified 688 individuals with JS across 32 genes and 112 publications to bolster known genotype/phenotype relationships and identify new correlations.

All included patients had the “molar tooth sign” and a confirmed genetic diagnosis. Individuals were categorized by age, ethnicity, sex and the presence of developmental disability/intellectual disability, hypotonia, abnormal eye movements, ataxia, visual impairment, renal impairment, polydactyly, and liver abnormalities.

Results: Most genes demonstrated unique phenotypic profiles. Grouping proteins based on physiologic interactions established stronger phenotypic relationships that reflect known ciliary pathophysiology. Age‐stratified data demonstrated that end‐organ disease is progressive in JS. Most genes demonstrated a significant skew towards having variants with either residual protein function or no residual protein function.

Conclusion: This cohort demonstrates that clinically meaningful genotype/phenotype relationships exist within most JS‐related genes and can be referenced to allow for more personalized clinical care.
Energy Storage and Environmental Justice: A Critical Examination of a Proposed Pumped Hydropower Facility in Goldendale, Washington
Authors: Cantor Alida , Turley Bethani , Maxfield Katie
Published: November 2023

Renewable energy sources such as solar and wind produce electricity intermittently, creating challenges in balancing electricity supply and demand for increasingly renewable‐dominated grids. This is driving efforts to increase energy storage infrastructure, such as pumped hydroelectric power storage (pumped storage). In this research, we examine environmental justice issues in a case study of a proposed pumped storage facility in Goldendale, Washington, which has been highly controversial and actively contested by a coalition of Indigenous and environmental communities. Drawing from frameworks of political ecology, just transitions, and Indigenous environmental justice, we focus on processes of consultation and engagement around permitting as a key arena for environmental justice contestation, and critically examine the driving assumptions behind the project. Despite popular framings of renewable energy infrastructures as new and green, we argue that the environmental justice impacts of this and similar projects represent continuity with past patterns of settler colonialism and extractive development.
Druggable site near the upper vestibule determines the high affinity and P2X3 homotrimer selectivity of sivopixant/S‐600918 and its analogue DDTPA
Authors: Wang Dong‐Ping , Zhang Meng , Li Ming , Yang Xiao‐Na , Li Changzhu , Cao Peng , Zhu Michael X. , Tian Yun , Yu Ye , Lei Yun‐Tao
Published: November 2023

Background and Purpose

The P2X3 receptor, a trimeric ionotropic purinergic receptor, has emerged as a potential therapeutic target for refractory chronic cough (RCC). Nevertheless, gefapixant/AF‐219, the only marketed P2X3 receptor antagonist, might lead taste disorders by modulating the human P2X2/3 (hP2X2/3) heterotrimer. Hence, in RCC drug development, compounds exhibiting strong affinity for the hP2X3 homotrimer and a weak affinity for the hP2X2/3 heterotrimer hold promise. An example of such a molecule is sivopixant/S‐600918, a clinical Phase II RCC candidate with a reduced incidence of taste disturbance compared to gefapixant. Sivopixant and its analogue, (3‐(4‐([3‐chloro‐4‐isopropoxyphenyl]amino)‐3‐(4‐methylbenzyl)‐2,6‐dioxo‐3,6‐dihydro‐1,3,5‐triazin‐1(2H)‐yl)propanoic acid (DDTPA), exhibit both high affinity and high selectivity for hP2X3 homotrimers, compared with hP2X2/3 heterotrimers. The mechanism underlying the druggable site and its high selectivity remains unclear.

Experimental Approach

To analyse mechanisms that distinguish this drug candidate from other inhibitors of the P2X3 receptors we used a combination of chimera construction, site covalent occupation, metadynamics, mutagenesis and whole‐cell recording.

Key Results

The high affinity and selectivity of sivopixant/DDTPA for hP2X3 receptors was determined by the tri‐symmetric site located close to the upper vestibule. Substitution of only four amino acids inside the upper body domain of hP2X2 with those of hP2X3, enabled the hP2X2/3 heterotrimer to exhibit a similar level of apparent affinity for sivopixant/DDTPA as the hP2X3 homotrimer.

Conclusion and Implications

From the receptor‐ligand recognition perspective, we have elucidated the molecular basis of novel RCC clinical candidates' cough‐suppressing properties and reduced side effects, offering a promising approach to the discovery of novel drugs that specifically target P2X3 receptors.
Sex‐specific causality of MRI‐derived body compositions on glycaemic traits: Mendelian randomization and observational study
Authors: Zhu Yijie , Wang Qi , Dai Huajie , Hou Tianzhichao , Wang Tiange , Zhao Zhiyun , Li Mian , Miao Wei , Yang Jian , Lu Jieli , Xu Yu , Chen Yuhong , Ning Guang , Zheng Jie , Bi Yufang , Xu Min , Wang Weiqing
Published: November 2023

Aim

To investigate the sex‐specific causality of body compositions in type 2 diabetes and related glycaemic traits using Mendelian randomization (MR).

Materials and Methods

We leveraged sex‐specific summary‐level statistics from genome‐wide association studies for three adipose deposits adjusted for body mass index and height, including abdominal subcutaneous adipose tissue, visceral adipose tissue (VATadj) and gluteofemoral adipose tissue (GFATadj), measured by MRI (20 038 women; 19 038 men), and fat mass‐adjusted appendicular lean mass (ALMadj) (244 730 women; 205 513 men) in the UK Biobank. Sex‐specific statistics of type 2 diabetes were from the Diabetes Genetics Replication and Meta‐analysis Consortium and those for fasting glucose and insulin were from the Meta‐analyses of Glucose and Insulin‐related Traits Consortium. Univariable and multivariable MR (MVMR) were performed. We also performed MR analyses of anthropometric traits and genetic association analyses using individual‐level data of body composition as validation.

Results

Univariable MR analysis showed that, in women, higher GFATadj and ALMadj exerted a causally protective effect on type 2 diabetes (GFATadj: odds ratio [OR] 0.59, 95% confidence interval [CI; 0.50, 0.69]; ALMadj: OR 0.84, 95% CI [0.77, 0.91]) and VATadj to be riskier in glycaemic traits. MVMR showed that GFATadj retained a robust effect on type 2 diabetes (OR 0.57, 95% CI [0.42, 0.77]; P = 2.6 × 10−4) in women, while it was nominally significant in men (OR 0.58, 95% CI [0.35, 0.96]; P = 3.3 × 10−2), after adjustment for ASATadj and VATadj. MR analyses of anthropometric measures and genetic association analyses of glycaemic traits confirmed the results.

Conclusions

Body composition has a sex‐specific effect on type 2 diabetes, and higher GFATadj has an independent protective effect on type 2 diabetes in both sexes.
Effects of maternal pulmonary arterial hypertension on fetal hemodynamics and maternal‐fetal outcome in late pregnancy
Authors: Xing Yuan Yuan , Ruan Yanping , Qin Huai , Zhao Lei , Zhao Qing , Wei Yun , Chen Jie , Ma Xiaohai
Published: November 2023

Purpose

The aim of this study was to investigate the effects of maternal pulmonary arterial hypertension (PAH) on fetal hemodynamics in the third trimester and to identify hemodynamic indicators associated with adverse maternal and fetal outcomes.

Methods

We recruited 48 pregnant women with PAH in the third trimester and 32 women with normal pregnancies as controls matched for age and gestational week. Fetal growth and hemodynamic parameters were assessed by two‐dimensional and color Doppler. All cases were followed up until delivery and maternal and fetal outcomes were collected. High throughput sequencing method was used to determine differential miRNA patterns in plasma exposed to pulmonary arterial hypertension (PAH) in pregnant women. We then performed the validated of key differentially expressed miRNAs by real‐time PCR.

Results

Compared with the normal and mild PAH groups, resistance index (RI), pulsatility index (PI) of the fetal umbilical artery (UA) and quantitative ductus venosus (QDV) blood flow were increased in subjects with moderate to severe PAH, while PI and the ratio of peak systolic velocity (PSV) to end‐diastolic velocity (EDV) (S/D) of the middle cerebral artery (MCA) were decreased. Compared with the normal group, subjects in the mild and moderate PAH groups had lower neonatal weight, shorter neonatal height, and higher preterm birth rates. In addition, miRNA sequencing data showed that PAH affected the levels of 23 miRNAs in plasma. At the same time, we showed that PAH significantly decreased the level of miR‐1255a and increased the level of miR‐548ar‐3p by real‐time PCR.

Conclusion

In the group of pregnant women with moderate to severe pulmonary hypertension, there was a higher proportion of preterm births and low birth weight babies. Hemodynamic changes in the fetal UA, MCA, and ductus venosus (DV) during late pregnancy were associated with adverse fetal outcomes. At the same time, miRNA sequencing results showed that miR‐1255a and miR‐548ar‐3p may play an important role in the development of PAH.
Role of echocardiography in the management of ventricular septal rupture after acute myocardial infarction
Authors: Baltodano‐Arellano Roberto , Cupe‐Chacalcaje Kelly , Cachicatari‐Beltran Angela , Benites‐Yshpilco Lindsay , Urdanivia‐Ruiz Dante , Moscoso Josh , Rojas Paol , Ortiz‐Leon Xochitl , Levano‐Pachas Gerald
Published: November 2023

Ventricular septal rupture (VSR) is a rare and devastating complication of acute myocardial infarction. Early detection, assessment of the hemodynamic impact, and illustration of the pathophysiological context are crucial functions of echocardiography in decision‐making for intensive management and reparative intervention. To evaluate this entity, echocardiography exhibits two strengths: its bedside nature and its multiple modalities. This document reviews the comprehensive use of echocardiography in the study of post‐infarction VSR.
Biodiversity connections—‘ties that bind’
Authors: Freeman Mary C. , Elkins Duncan , Albanese Brett
Published: November 2023

Connectivity is a foundational concept in ecology and conservation and was the organising theme for the 2022 Annual Meeting of the Southeastern Fishes Council, a professional organisation dedicated to the study and conservation of freshwater fishes native to the southeast region of the United States (US). We introduce a Special Contribution of five papers selected from presentations at that meeting that illustrate perspectives on connections created by fish migration and dispersal, evolved life histories and habitat affinities and interspecific facilitation. Although focused on streams of the southeast US, each of these topics is broadly relevant to freshwater fish conservation, particularly with respect to causes and consequences of migratory fish depletion, population fragmentation and species declines. Many other connections relevant to the ecology and conservation of freshwater fishes remain relatively unexplored but could substantively advance conservation. We highlight the potential that species evolutionary histories, that is connections through time, reconstructed using species distributions and phylogenies may improve predictions of species responses to environmental change. Identifying species interdependencies, including undiscovered interactions that support survival or reproduction, could provide insights into how species losses may cascade as aquatic communities unravel. Finally, efforts to elucidate diverse connections between people and freshwater biodiversity, particularly where fisheries are historic and streams mostly go unnoticed, may prove essential to building public support for conservation measures. A research agenda anchored on ‘biodiversity connections’ has the potential to advance ecological understanding and public engagement, elements essential to conserving freshwater fishes.
Hypersomnia in anti‐glutamic acid decarboxylase 65 (GAD65) associated neurological syndromes: A pilot study
Authors: Jeantin Lina , Gales Ana , Berzero Giulia , Leu Smaranda , Proust Jérémy , Giry Marine , Valyraki Nefeli Eirini , Birzu Cristina , Alentorn Agusti , Vidailhet Marie , Psimaras Dimitri , Arnulf Isabelle
Published: November 2023

Background and purpose

Despite their detrimental impact on the quality of life in autoimmune encephalitis, sleep disorders have not been investigated in anti‐glutamic acid decarboxylase (GAD65) associated neurological syndromes.

Methods

Six consecutive adult patients diagnosed with anti‐GAD65‐associated neurological syndromes (four with limbic encephalitis and two with stiff‐person syndrome) and 12 healthy controls were enrolled. Participants underwent sleep interviews and sleep studies including night‐time video‐polysomnography, followed by five daytime multiple sleep latency tests (MSLTs, to assess propensity to fall asleep) and an 18 h bed rest polysomnography (to assess excessive sleep need).

Results

Patients reported the need for daily naps and that their cognition and quality of life were altered by sleepiness, but they had normal scores on the Epworth sleepiness scale. Compared with controls, sleep latencies during the MSLT were shorter in the patient group (median 5.8 min, interquartile range [IQR] 4.5, 6.0 vs. 17.7 min, IQR 16.3, 19.7, p = 0.001), and the arousal index was reduced (2.5/h, IQR 2.3, 3.0 vs. 22.3/h, IQR 13.8, 30.0, p = 0.002), although total sleep time was similar between groups (621 min, IQR 464, 651 vs. 542.5 min, IQR 499, 582, p = 0.51). Remarkably, all six patients had MSLT latencies ≤8 min, indicating severe sleepiness. No parasomnia or sleep‐disordered breathing was detected.

Conclusion

Central hypersomnia is a relevant characteristic of anti‐GAD65‐associated neurological syndromes.
Commentary: Holy grails, personalized medicine, and the public health burden of psychopathology – a reflection on Ahuvia et al. (2023)
Authors: Lorenzo‐Luaces Lorenzo
Published: November 2023

Clinical psychology and psychiatry have many ‘holy grails’ or research findings that are widely sought after but remain elusive. The use of machine learning (ML) models for treatment selection is one of these holy grails. Ahuvia et al. (Journal of Child Psychology and Psychiatry, 2023) recently analyzed a large trial (n = 996) of two distinct single‐session interventions (SSIs) for internalizing distress and found little evidence that an ML model could predict differential treatment response. I discuss potential avenues for advancing SSI research. One avenue is the dissemination and implementation of SSIs, including how they interact with other treatments in routine care. Quantifying and critically questioning the promises of holy grails like ML models is sorely needed. Using simulation modeling to evaluate the relative merits of using ML models for treatment selection or using SSIs versus other treatment strategies may be another path forward.
Attention challenges in Kabuki syndrome
Authors: Kalinousky A. J. , Rapp T. , Harris J. R.
Published: November 2023

Background

Understanding the specific neurobehavioural profile of rare genetic diseases enables clinicians to provide the best possible care for patients and families, including prognostic and treatment advisement. Previous studies suggested that a subset of individuals with Kabuki syndrome (KS), a genetic disorder causing intellectual disability and other neurodevelopmental phenotypes, have attentional deficits. However, these studies looked at relatively small numbers of molecularly confirmed cases and often used retrospective clinical data instead of standardised assessments.

Methods

Fifty‐five individuals or caregivers of individuals with molecularly confirmed KS completed assessments to investigate behaviour and adaptive function. Additionally, information was collected on 23 unaffected biological siblings as controls.

Results

Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. Children with KS scored significantly higher than their unaffected sibling on nearly all behavioural categories. A significant correlation was found between Attention Problems scores and adaptive function scores (P = 0.032), which was not explained by lower general cognitive ability.

Conclusions

We found that the rates of children with attentional deficits are much more elevated than would be expected in the general population, and that attention challenges are negatively correlated with adaptive function. When averaged across KS participants, none of the behavioural categories were in the clinically significant range except Attention Problems for children, which underscores the importance of clinicians screening for attention deficit hyperactivity disorder (ADHD) in children with KS.
Protocolo para Julgamento com Perspectiva de Gênero
Authors: Cirino Samia Moda , Feliciano Julia
Published: November 2023

O artigo objetiva verificar o efeito do Protocolo para julgamento com perspectiva de gênero do CNJ para enfrentamento da violência de gênero relativamente às teses levadas ao Judiciário pelos profissionais do Direito. O problema de pesquisa consiste em verificar se o Protocolo permitirá que os sujeitos do processo observem as questões de gênero e a forma que devem ser enfrentadas no trâmite e julgamento das demandas nos diversos ramos do Judiciário. Para responder essa questão, é analisada a primeira parte do Protocolo para verificar se os conceitos, teorias e metodologias adotadas para inserção da perspectiva feminista no âmbito da atividade jurisdicional são adequadas. Essa análise qualitativa, pautada pela metodologia feminista, permite uma primeira conclusão, de que o Protocolo deve passar por revisão de um grupo de trabalho plural, de modo a abranger todos os atores da atividade jurisdicional e em razão de apresentar equívocos teóricos e metodológicos. Em seguida, tendo como referencial os feminismos decoloniais, desenvolve a hipótese de necessidade de uma ruptura epistemológica do próprio Direito e da reconstrução do conhecimento e prática jurídica para efetivo enfrentamento da violência de gênero. Diante dessas análises, conclui que, mesmo se necessária uma revisão plural, o Protocolo é aplicável, tem caráter cogente e deve ser articulado com estratégias de ensino-aprendizagem que insiram a perspectiva dos feminismos nas grades curriculares de formação dos profissionais do Direito no Brasil. Os resultados obtidos permitem a formulação de propostas concretas para o enfrentamento da violência de gênero na atividade jurisdicional, caracterizando a pesquisa como tecnologia social.
 
PALAVRAS-CHAVE: Feminismos; Epistemologia; Decolonial; Relações de gênero; Práxis Jurídica.
Experiences of family members of cancer patients in palliative care: a qualitative systematic review protocol
Authors: Maia Flávia de Oliveira Motta , Guimarães Lívia Carneiro , Misko Maira Deguer , de Souza Thainara Rocha , Fonseca Marileise Roberta Antoneli
Published: November 2023

Objective:

The objective of this review is to synthesize the experiences of family members of cancer patients in palliative care.

Introduction:

Increasingly, palliative care is the approach advocated when a life-threatening illness has been diagnosed. Cancer patients and their families, when receiving early identification, correct assessment, and treatment of pain and other problems through palliative care, report feeling supported in their illness experience. The patients and their families also describe immediate and personalized symptom management, holistic support, decision-making guidance, and preparation for the future, including the dying process and grief stages. A growing number of studies address palliative care patients and, in particular, the central role of family in this approach. This review will synthesize qualitative research on this subject, providing recommendations to health professionals to help them better understand the experiences and needs of family members of cancer patients receiving palliative care.

Inclusion criteria:

The review will consider studies examining experiences of families of cancer patients in palliative care, in all types of settings and contexts. The studies will focus on qualitative data, including, but not limited to, designs such as phenomenology, grounded theory, ethnography, action research, qualitative descriptive, and mixed methods studies.

Methods:

The review will follow the JBI methodology for systematic reviews of qualitative evidence. The search strategy will aim to locate both published and unpublished studies, in any language, with no date restrictions. Methodological quality will be evaluated using the standard JBI critical appraisal checklist for qualitative research. The findings will be pooled using the meta-aggregation approach or will be presented in narrative format. The final synthesized findings will be graded according to the ConQual approach.

Systematic review registration number:

PROSPERO CRD42022333937
Evolution of 1500-m Olympic Running Performance
Authors: Foster Carl , Hanley Brian , Barroso Renato , Boullosa Daniel , Casado Arturo , Haugen Thomas , Hettinga Florentina J. , Jones Andrew M. , Renfree Andrew , Skiba Philip , St Clair Gibson Alan , Thiel Christian , de Koning Jos J.
Published: November 2023

Purpose: This study determined the evolution of performance and pacing for each winner of the men’s Olympic 1500-m running track final from 1924 to 2020. Methods: Data were obtained from publicly available sources. When official splits were unavailable, times from sources such as YouTube were included and interpolated from video records. Final times, lap splits, and position in the peloton were included. The data are presented relative to 0 to 400 m, 400 to 800 m, 800 to 1200 m, and 1200 to 1500 m. Critical speed and D′ were calculated using athletes’ season’s best times. Results: Performance improved ∼25 seconds from 1924 to 2020, with most improvement (∼19 s) occurring in the first 10 finals. However, only 2 performances were world records, and only one runner won the event twice. Pacing evolved from a fast start–slow middle–fast finish pattern (reverse J-shaped) to a slower start with steady acceleration in the second half (J-shaped). The coefficient of variation for lap speeds ranged from 1.4% to 15.3%, consistent with a highly tactical pacing pattern. With few exceptions, the eventual winners were near the front throughout, although rarely in the leading position. There is evidence of a general increase in both critical speed and D′ that parallels performance. Conclusions: An evolution in the pacing pattern occurred across several “eras” in the history of Olympic 1500-m racing, consistent with better trained athletes and improved technology. There has been a consistent tactical approach of following opponents until the latter stages, and athletes should develop tactical flexibility, related to their critical speed and D′, in planning prerace strategy.
Twice Invisible, Twice Clandestine. Football and Lesbianism in Spain During the Years of Democratic Transition (1970–1982)
Authors: Ribalta Alcalde Dolors , Pujadas Xavier
Published: November 2023

The main objective of this paper is to analyze the relationship between women’s football and lesbianism during the 1970s in Spain as well as the invisibility characteristics of this group of women in the context of the invisibility of women’s football in this period and in the context of the political transition until 1982. In the repressive context of late Francoism and given the validity until 1978 of laws that expressly persecuted homosexuality, social, cultural, legal, and political pressure had a very important impact on lesbian women who participated in the incipient practice of football in Spain in the 1970s. Some of these players built gay social networks through sports clubs and later started clandestine meetings in bars and private celebrations. The period studied—between 1970 and 1982—coincided with the rebirth of women’s football in Spain and the international emergence of this sport. The research has been based on the use of in-depth interview as a method and historiographical technique that has allowed us to obtain the life stories of nine lesbian or heterosexual women football players in different Spanish cities (who in general have lived and live in a private sexual identity) and two coaches linked to women’s teams. These sources have been expanded and contrasted from others of a documentary nature (specialized press and bibliography) to reconstruct the context studied and contrast the reliability of the information collected. In conclusion, it has been established that, despite the low visibility of women’s football and homosexuality, the legal pressure of the period and the opposition of the public authorities and institutions of the dictatorship, the field of football allowed these women to overcome some of the difficulties in the process of building their identity and discrimination based on sexual orientation. In turn, support networks—especially of teammates—private parties and atmosphere bars, were fundamental to the life experience of young lesbian athletes in the still repressive context of the end of the Franco dictatorship and the first years of the young democratic regime in Spain.
Longitudinal trends in domperidone dispensing to mothers of very preterm infants and its association with breast milk feeding at infant discharge: a retrospective study
Authors: McBride Grace McKenzie , Rumbold Alice R , Keir Amy K , Kunnel Aline , Buxton Michael , Jones Susanne , Summers Laura , Stark Michael , Grzeskowiak Luke E
Published: November 2023

Objective

This study aims: (a) to evaluate patterns of domperidone dispensing to mothers of very preterm (<32 weeks gestation) infants born before and after 2014 when international recommendations were made to limit its use and (b) to examine characteristics associated with domperidone dispensing and impacts on breast milk feeding rates at infant hospital discharge.

Design

Retrospective audit using linked electronic medical records and hospital pharmacy records.

Setting

Tertiary-referral neonatal intensive care unit at the Women’s and Children’s Hospital in South Australia.

Patients

Mothers of preterm infants admitted to neonatal intensive care from January 2004 to December 2018.

Main outcome measures

Rate of domperidone dispensing compared pre-2014 and post-2014 recommendations using interrupted time series analyses, and breast milk feeding rates at infant discharge based on domperidone treatment status, adjusted for other factors known to influence breast milk production.

Results

Overall, domperidone was dispensed to 691 (41%) of 1688 mothers. Prior to 2014 recommendations, the proportion of women dispensed domperidone was stable. Following the recommendations, there was a significant reduction in trend (−2.55% per half year, 95% CI −4.57% to –0.53%;), reflecting less domperidone dispensing.

Breast milk feeding rates at discharge remained consistently lower in infants of women dispensed domperidone than those who were not (adjusted OR 0.58, 95% CI 0.45 to 0.75).

Conclusion

Domperidone dispensing in mothers of hospitalised very preterm infants has declined over time following international regulatory warnings. Breast milk feeding rates remain lower in mothers prescribed domperidone, suggesting further research is needed to optimise lactation support for mothers of very preterm infants.
Tubular aggregate myopathy causing progressive fatiguable weakness
Authors: Fan Qihua , Gwathmey Kelly , Du Xinli , Seth Arjun , Corse Andrea
Published: November 2023

Tubular aggregate myopathies comprise a rare group of disorders with characteristic pathological findings and heterogeneous phenotypes, including myasthenic syndrome. We describe a patient with tubular aggregate myopathy who presented with fatiguable weakness improving with pyridostigmine, respiratory involvement and possible cardiac manifestations. We highlight the utility of muscle biopsy in atypical myasthenic syndrome.
Interplay Between Computational Neuroscience and Humanoid Robotics: Past and Future
Authors: Kawato Mitsuo
Published: November 2023

The interplay between computational neuroscience and humanoid robotics, both historically and looking forward, is presented, with a particular focus on two significant projects: the ERATO Kawato Dynamic Brain and the ICORP Computational Brain. Discussion revolves around pivotal brain regions, namely the cerebellum, basal ganglia, and cerebrum, and the associated computational models.
Preeclampsia exposed children's heart rate variability 8-12 years after index pregnancy (FINNCARE-study)
Authors: Renlund Michelle , Tulppo Mikko P. , Kivelä Anni , Laivuori Hannele , Heinonen Seppo , Jääskeläinen Tiina , Sarkola Taisto
Published: November 2023

Background and Aim: Preeclampsia is related with elevated systolic blood pressure (SBP) in children. Our aim was to study if preeclampsia exposed (PE) children develop alterations in heart rate variability (HRV) and if this is reflected in their blood pressure (BP), as well as overall associations with body size and composition, gestational and perinatal factors. Methods: We examined 182 PE (46 early-onset PE) and 85 unexposed (non-PE) children 8-12 years after in-utero exposure to preeclampsia. HRV monitoring was performed 5 min in supine followed by 5 min in standing position and compared with office, 24-hour ambulatory and central BPs in relation to body anthropometrics and composition, gestational and perinatal data. Results: There were no major differences in HRV between PE and non-PE children. HRV in supine position was strongly associated with office and ambulatory heart rates (HRs), and HR was independently associated with office BPs. However, HRV was not related with office or 24-hour SBP and PP, nor with elevated SBP in PE children. Vagally mediated HF, rMSSD (inverse association) and LF/HF ratio (positive association), as a marker of sympathovagal balance, in supine position were independently associated with child adiposity. LF, HF and rMSSD displayed independent inverse associations with child age at follow-up. There were no significant associations between child HRV at follow-up and gestational and perinatal factors. Conclusion: HRV in PE children is like non-PE children during prepuberty, and elevated SBP following preeclampsia exposure is not related with HRV. Child adiposity could be related with decreased cardiac vagal tone.
FIGURE 1 from Concordance and Clinical Significance of Genomic Alterations in Progressive Tumor Tissue and Matched Circulating Tumor DNA in Aggressive-variant Prostate Cancer
Authors: Wang Ruiliang , Xu Qiufan , Guo Hanxu , Yang Guanjie , Zhang Jun , Wang Hong , Xu Tianyuan , Guo Changcheng , Yuan Jing , He Yanyan , Zhang Xiaoying , Fu Hongliang , Xu Guang , Zhao Binghui , Xie Jun , Zhao Tingting , Huang Longfei , Zhang Jiansheng , Peng Bo , Yao Xudong , Yang Bin
Published: November 2023

Study design and integrative landscape of SMs, CNVs, and deleterious GMs in patients with AVPC. A, Flow diagram of patients according to treatment history. Tumor tissue and matched ctDNA from 63 patients with clinically defined AVPC. All of them underwent systemic treatment. Among them, 14 patients received local treatment, while 59 patients did not. The systemic treatment methods included NHT (enzalutamide, abiraterone, and apalutamine), Chemotherapy (additional platinum-based chemotherapy or docetaxel only), and other therapies (inhibitors of tyrosine kinases, PD-1 or PARP inhibitor). B, Landscape of alterations involving 30 selected genes in progressive tumor tissues and matched ctDNA from patients with AVPC. C, Landscape of alterations involving signaling pathways in progressive tumor tissues and matched ctDNA from patients with AVPC. Significance was determined using χ2 and Fisher exact tests. ***, P < 0.001.
Household Cohabitation Patterns in Multiethnic Seventeenth-Century Lviv
Authors: Wysmułek Jakub
Published: November 2023

Lviv, a mid-sized city in the eastern borderlands of the Polish-Lithuanian Commonwealth, numbered approximately 10,000 inhabitants in the second half of the seventeenth century. Its wealth, strategic location, and role as a trade center with the East contributed to significant ethno-religious diversity, with influential communities of Ruthenians (Ukrainians), Armenians, and Jews, alongside the Catholic majority. Detailed analysis of the 1662 Lviv poll tax register and other sources reveals the social composition and size of individual households, as well as their location in the city, houses’ construction material, and plot sizes. The results reveal diverse domestic arrangements influenced not only by individual socio-economic factors but also by the structural and cultural characteristics of the urban space.
Added in Translation: Keywords for the Study of Javanese Islamic Texts
Authors: Ricci Ronit
Published: November 2023

The idea of keywords was introduced in Raymond Williams’ seminal Keywords. A Vocabulary of Culture and Society (1976), and has since had a profound influence on research in multiple fields. This article explores what the idea of keywords might contribute to the study of interlinear translations from Arabic into Javanese. The interlinear translation, which presents an Arabic text with a word-for-word Javanese translation appearing between its lines, is a space where languages, beliefs, and entire histories encounter one another on the page. Taking as my example the 1864 interlinear Babad Maulud (a Javanese translation of the Arabic Maulid Syaraf al-Anām, recited on the Prophet Muhammad’s birthday), I suggest that despite the Javanese translator’s overall literal translation strategy which attempted to duplicate the original, he or she decided to add “Javanese keywords” at particular points in the translation, with such exceptions revealing contemporary Javanese understandings of social etiquette, identity and genealogy.
Notes on the typification of Angiopteris tamdaoensis and A. tonkinensis (Marattiaceae)
Authors: DONG SHI-YONG , VASQUES DIEGO TAVARES
Published: November 2023

In the fern family Marattiaceae, both Angiopteris tamdaoensis (Hayata 1919: 91) Xiang & Wang (2020: 7) and A. tonkinensis (Hayata 1919: 88) Camus (1989: 34) were originally published by Hayata (1919) based on materials from northern Vietnam (Mt. Tamdao) collected in 1917. Stressing the distinctness of fused-sporangia (synangia) in A. tonkinensis, Hayata (1919: 88) even proposed a new genus, Protomarattia, to accommodate this species. Almost since the publication, the controversy has arisen on the identity of A. tamdaoensis and A. tonkinensis among pteridologists. Christensen and Tardieu-Blot (1935) and Ching (1958a, 1958b) synonymized A. tonkinensis and A. tamdaoensis, while Pichi Sermolli (1968) argued A. tonkinensis is a distinct species representing a good genus. Camus (1989) accepted A. tonkinensis as a good species while treated A. tamdaoensis as a synonym of A. somae (Hayata 1915: 256) Makino & Nemoto (1925: 1563), which was based on the observation that the fusion of sporangia exhibits a series of graded intermediates in Archangiopteris Christ & Giesenhagen (1899: 72) and Protomarattia, and also occurs to some extent in Angiopteris sensu Hoffmann (1796: 29) (Hill & Camus 1986). Recently, Wang et al. (2020) proposed both A. tamdaoensis and A. tonkinensis are good species, insisting the latter being distinguishable from the former by the marginal synangia. We noticed that the A. tonkinensis reported by various authors (e.g., Ching 1958a; Ching et al. 1964; Dong 2004; He et al. 2013) from Hainan was corrected to be A. tamdaoensis by Wang et al. (2020).
Social welfare maximization in deregulated power market incorporating wind power plants using metaheuristic algorithm
Authors: Raturi Ajay Swaroop , Jarial Raj Kumar , Sood Yog Raj , Maheshwari Ankur , Jaiswal Supriya
Published: November 2023

The increasing integration of renewable energy sources (RESs), particularly wind power plants (WPP), into deregulated power markets introduces complexities in optimizing social welfare (SW). This article proposes a recent metaheuristic algorithm to address this challenge and maximize SW while accounting for the presence of WPP and the inherent uncertainty associated with wind power forecasting. The proposed algorithm optimizes generation scheduling and demand-side bidding strategies in the deregulated power market to maximize SW while ensuring economic efficiency. To validate the effectiveness and robustness of the proposed algorithm, MATLAB simulations are conducted on IEEE 30 and IEEE 118-bus systems. The results demonstrate that the proposed algorithm provides promising solutions for maximizing SW, especially in the context of incorporating WPP. This research contributes to the advancement of power market optimization methods and promotes the seamless integration of RESs, fostering a more sustainable energy future.
Estimating microhaplotype allele frequencies from low-coverage or pooled sequencing data
Authors: Delomas Thomas A. , Willis Stuart C.
Published: November 2023

Background

Microhaplotypes have the potential to be more cost-effective than SNPs for applications that require genetic panels of highly variable loci. However, development of microhaplotype panels is hindered by a lack of methods for estimating microhaplotype allele frequency from low-coverage whole genome sequencing or pooled sequencing (pool-seq) data.

Results

We developed new methods for estimating microhaplotype allele frequency from low-coverage whole genome sequence and pool-seq data. We validated these methods using datasets from three non-model organisms. These methods allowed estimation of allele frequency and expected heterozygosity at depths routinely achieved from pooled sequencing.

Conclusions

These new methods will allow microhaplotype panels to be designed using low-coverage WGS and pool-seq data to discover and evaluate candidate loci. The python script implementing the two methods and documentation are available at https://www.github.com/delomast/mhFromLowDepSeq.
Multi-genome comprehensive identification of SSR/SV and development of molecular markers database to serve Sorghum bicolor (L.) breeding
Authors: An Yanlin , Xia Xiaobo , Zheng Huayan , Yu Shirui , Jing Tingting , Zhang Feng
Published: November 2023

Background

As an important food and cash crop, identification of DNA molecular markers is of great significance for molecular marker-assisted breeding of Sorghum (Sorghum bicolor (L.) moench). Although some sorghum-related mutation databases have been published, the special SSR and SV databases still need to be constructed and updated.

Results

In this study, the quality of 18 different sorghum genomes was evaluated, and two genomes were assembled at chromosome level. Through the identification and comparative analysis of SSR loci in these genomes, the distribution characteristics of SSR in the above sorghum genomes were initially revealed. At the same time, five representative reference genomes were selected to identify the structural variation of sorghum. Finally, a convenient SSR/SV database of sorghum was constructed by integrating the above results (http://www.sorghum.top:8079/;http://43.154.129.150:8079/;http://47.106.184.91:8079/). Users can query the information of related sites and primer pairs.

Conclusions

Anyway, our research provides convenience for sorghum researchers and will play an active role in sorghum molecular marker-assisted breeding.
Phytohormones and candidate genes synergistically regulate fruitlet abscission in Areca catechu L.
Authors: Li Jia , Chen Yunche , Zhou Guangzhen , Li Meng
Published: November 2023

Background

The fruit population of most plants is under the control of a process named “physiological drop” to selectively abort some developing fruitlets. However, frequent fruitlet abscission severely restricts the yield of Areca catechu. To reveal the physiological and molecular variations in this process, we detected the variation of phytohormone levels in abscised and non-abscised fruitlets in A. catechu.

Results

The levels of gibberellin acid, jasmonic acid, salicylic acid, abscisic acid and zeatin were elevated, while the indole-3-acetic acid and indole-3-carboxaldehyde levels were declined in the “about-to-abscise” part (AB) of abscission zone (AZ) compared to the “non-abscised” part (CK). Then the differentially expressed genes (DEGs) between AB and CK were screened based on transcriptome data. DEGs involved in phytohormone synthesis, response and transportation were identified as key genes. Genes related to cell wall biosynthesis, degradation, loosening and modification, and critical processes during fruit abscission were identified as role players. In addition, genes encoding transcription factors, such as NAC, ERF, WRKY, MADS and Zinc Finger proteins, showed differentially expressed patterns between AB and CK, were also identified as candidates.

Conclusions

These results unraveled a phytohormone signaling cross talk and key genes involved in the fruitlet abscission process in A. catechu. This study not only provides a theoretical basis for fruitlet abscission in A. catechu, but also identified many candidate genes or potential molecular markers for further breeding of fruit trees.
Association of body mass index with perioperative blood transfusion and short-term clinical outcomes in patients undergoing isolated coronary artery bypass grafting
Authors: Gao Jie , Ji Hongwen
Published: November 2023

Background

Few studies have considered outcomes among low body mass index (BMI) cohorts undergoing coronary artery bypass grafting (CABG). This study aims to investigate the effects of low body weight on blood transfusion and perioperative outcomes in patients undergoing isolated CABG.

Methods

This retrospective study enrolled consecutive cases from a single-center between January 2008 and December 2018. Low body weight/underweight was defined as a BMI < 18.5 kg/m², while normal BMI was defined as 18.5 ≤ BMI < 24.0 kg/m². The primary endpoint was the perioperative red blood cell (RBC) transfusion rate. Secondary endpoints include platelet and plasma transfusion rates, transfusion volume for all blood components, hospital length of stay, and the occurrence of adverse events including prolonged mechanical ventilation, re-intubation, re-operation, acute kidney injury, and 30-day all-cause mortality.

Results

A total of 7,620 patients were included in this study. After 1:1 propensity score matching, 130 pairs were formed, with 61 pairs in the on-pump group and 69 pairs in the off-pump group. Baseline characteristics were comparable between the matched groups. Low body weight independently increased the risk of RBC transfusion (on-pump: OR = 3.837, 95% CI = 1.213–12.144, p = 0.022; off-pump: OR = 3.630, 95% CI = 1.875–5.313, p < 0.001). Moreover, within the on-pump group of the original cohort, BMI of < 18.5 kg/m² was independently correlated with increased risk of re-intubation (OR = 5.365, 95% CI = 1.159 to 24.833, p = 0.032), re-operation (OR = 4.650, 95% CI = 1.019 to 21.210, p = 0.047), and 30-day all-cause mortality (OR = 10.325, 95% CI = 2.011 to 53.020, p = 0.005).

Conclusion

BMI < 18.5 kg/m² was identified as an independent risk factor for increased perioperative RBC transfusion rate in patient underwent isolated CABG with or without CPB. Only on-pump underweight patients in the original cohort exhibited an increased risk for re-intubation, re-operation, and 30-day all-cause mortality. Physicians and healthcare systems should consider these findings to improve management for this population.
Current situation and needs analysis of medical staff first aid ability in China: a cross-sectional study
Authors: Wang Juntao , Lv Chuanzhu , Song Xingyue , Hu Yanlan , Hao Wenjie , He Lanfen , Chen Yu , Gan Yong , Han Xiaotong , Yan Shijiao
Published: November 2023

Objectives

We aim to understand the current situation of the first aid ability and training needs of Chinese medical personnel to provide a scientific basis for formulating the contents and methods of emergency medical rescue training and thereby improve the first aid level of Chinese medical personnel.

Methods

A cross-sectional survey was conducted between June 2022 and February 2023 using a two-stage cluster sampling method with a structured questionnaire sent to medical workers in 12 provinces in China. 14,527 questionnaires were included in this study. Data were collected on demographic characteristics, first aid knowledge and skills, and training needs. Variance analysis was used to compare the difference between the first aid ability and training needs of medical staff in different hospitals, and multiple linear regression analysis was carried out to evaluate first aid ability and training needs.

Result

The study included 6041 patients (41.6%) in tertiary hospitals, 5838 patients (40.2%) in secondary hospitals, and 2648 patients (18.2%) in primary hospitals. There were significant differences in the first aid ability and training needs of medical staff in hospitals of different levels (p < 0.001). The score of first aid knowledge and skills in tertiary hospitals was the highest (209.7 ± 45.0), and the score of training needs in primary hospitals was the highest (240.6 ± 44.0). There was a significant correlation between first aid ability and training needs score (p < 0.001). Multiple linear regression analysis shows that geographic region, age, work tenure, gender, job title, department, professional title, monthly income, and hospital level are the influencing factors of training demand.

Conclusion

Medical staff in primary hospitals generally have low first aid knowledge and skills and a strong willingness to train. Therefore, it is imperative to strengthen the training of first aid ability and research training strategies. The level of the hospital is closely related to the level of first aid, so it is necessary to recognize the commonalities and differences in medical staff’s demand for first aid knowledge and skills and carry out targeted education and training.