bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants
Authors: Domingo-Gallego Andrea , Pybus Marc , Madariaga Leire , Piñero-Fernández Juan Alberto , González-Pastor Sara , López-González Mercedes , Simarro-Rueda Esther , Quintanilla-Mata María Luisa , Matoses-Ruipérez María Luisa , Ejarque-Vila Laia , Cornec-Le Gall Emilie , Guirado Lluís , Torra Roser , Ariceta Gema , Ars Elisabet 
Published: September 2021

ABSTRACT

Background
Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease.

Methods
Genetic testing of 347 families with proteinuria of suspected monogenic cause was performed by next-generation sequencing of a custom-designed kidney disease gene panel. Families with CUBN biallelic proteinuria-causing variants were studied at the clinical, genetic, laboratory and pathologic levels.

Results
Twelve families (15 patients) bearing homozygous or compound heterozygous proteinuria-causing variants in the C-terminal CUBN gene were identified, representing 3.5% of the total cohort. We identified 14 different sequence variants, five of which were novel. The median age at diagnosis of proteinuria was 4 years (range 9 months to 44 years), and in most cases proteinuria was detected incidentally. Thirteen patients had moderate to severe proteinuria at diagnosis without nephrotic syndrome. These patients showed lack of response to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, normal kidney biopsy and preservation of normal kidney function over time. The two remaining patients presented a more severe phenotype, likely caused by associated comorbidities.

Conclusions
Identification of C-terminal pathogenic CUBN variants is diagnostic of an entity characterized by glomerular proteinuria, normal kidney histology and lack of response to ACEi/ARB treatment. This study adds evidence and increases awareness about albuminuria caused by C-terminal variants in the CUBN gene, which is a benign condition usually diagnosed in childhood with preserved renal function until adulthood.
Detecting subtle yet fast skeletal muscle contractions with ultrasoft and durable graphene-based cellular materials
Authors: He Zijun , Qi Zheng , Liu Huichao , Wang Kangyan , Roberts Leslie , Liu Jefferson Z , Liu Yilun , Wang Stephen J , Cook Mark J , Simon George P , Qiu Ling , Li Dan 
Published: September 2021

Abstract
Human bodily movements are primarily controlled by the contractions of skeletal muscles. Unlike joint or skeletal movements that are generally performed in the large displacement range, the contractions of the skeletal muscles that underpin these movements are subtle in intensity yet high in frequency. This subtlety of movement makes it a formidable challenge to develop wearable and durable soft materials to electrically monitor such motions with high fidelity for the purpose of, for example, muscle/neuromuscular disease diagnosis. Here we report that an intrinsically fragile ultralow-density graphene-based cellular monolith sandwiched between silicone rubbers can exhibit a highly effective stress and strain transfer mechanism at its interface with the rubber, with a remarkable improvement in stretchability (&gt;100%). In particular, this hybrid also exhibits a highly sensitive, broadband-frequency electrical response (up to 180 Hz) for a wide range of strains. By correlating the mechanical signal of muscle movements obtained from this hybrid material with electromyography, we demonstrate that the strain sensor based on this hybrid material may provide a new, soft and wearable mechanomyography approach for real-time monitoring of complex neuromuscular–skeletal interactions in a broad range of healthcare and human–machine interface applications. This work also provides a new architecture-enabled functional soft material platform for wearable electronics.
Trends in Tobacco Production and Prices in Malawi
Authors: Wineman Ayala , Chilora Lemekezani , Jayne Thomas S 
Published: September 2021

Abstract

Introduction
Diversification away from tobacco production has been identified as a priority for Malawi, historically one of the world’s most tobacco-reliant countries.

Methods
This paper refers to a nationally representative data set to characterize broad trends in production since 2000 to understand whether Malawi is shifting away from tobacco and how production has changed over time.

Results
From 2004 to 2019, the share of Malawian crop farmers producing tobacco fell from 16% to 5%, and tobacco’s share of the total value of crop production also declined sharply. Tobacco farms are generally growing larger (in size and scale of production) over time. However, land productivity remains low, with net returns of 93 000 MWK (128 USD) per hectare at the median. Farm-gate prices for tobacco have declined relative to the prices of maize or fertilizer, rendering tobacco a less lucrative avenue to generate the cash income needed to purchase these key items. In addition, the share of the export price received by farmers has also declined over time, with the median farm-gate price representing 32% of the export price in 2004 and 18% in 2019.

Conclusions
In some respects, a transition away from tobacco has already occurred. Additional research is needed to understand why the farm-gate share of tobacco export prices has declined over this period and how the livelihoods of smallholder farm-households that exited tobacco production have been affected.

Implications
To the extent that tobacco prices appear to be declining, there is a need to rigorously assess whether farmers have suitable crop alternatives (with established markets) and other livelihood options. Likely, investments are yet needed to foster strong alternatives to tobacco; such investments include research and development in on-farm technologies to raise the productivity of non-tobacco crops, as well as improvements in non-tobacco value chains to reduce transportation costs and promote private investment.
Burden of Silicosis among stone crushing workers in India
Authors: Govindagoudar M B , Singh P K , Chaudhry D , Chaudhary R , Sachdeva A , Dhankhar S , Tyagi D 
Published: September 2021

Abstract

Background
In North India, the mining industry is disorganized and profit-driven. It predisposes its workers towards the development of silicosis. Haryana, a major North Indian state, has developed a compensation–rehabilitation policy for mining workers.

Aims
This study is the review of the policy’s functioning and limitation from the first 4 years of implementation.

Methods
The labour department does surveillance of workers in the mining industry. All suspected cases of silicosis are evaluated by a multidisciplinary team. Based on the final diagnosis, the compensation is decided.

Results
Nearly 5000 workers were screened, and 729 appeared before the medical board. Of these 729, 465 were having silicosis, and their data are presented here (data of 7 patients were missing). All workers were males. The mean age was 44.54 ± 9.6 years, and the mean exposure (work experience) was 17.25 ± 6.7 years. Most of the workers were between the age of 40 and 50 years and had exposure for 10–20 years. Chest radiography examination showed that progressive massive fibrosis (large size type C opacities) was the most common type of presentation (23%). Smaller opacities (p, q, r and s, t, u) were combined for further analysis, given their similar prognostic significance. It was found that age and experience both had a linear and significant correlation with the severity of lung involvement.

Conclusions
Nearly a quarter of subjects were suffering from the worst type of lung involvement at screening itself. The policy has laid a foundation for the welfare of workers, but there is still a long way to go.
Impact of a Multiplex Polymerase Chain Reaction Panel on Duration of Empiric Antibiotic Therapy in Suspected Bacterial Meningitis
Authors: Choi Justin J , Westblade Lars F , Gottesdiener Lee S , Liang Kyle , Li Han A , Wehmeyer Graham T , Glesby Marshall J , Simon Matthew S 
Published: September 2021

Abstract

Background
Multiplex polymerase chain reaction (PCR) panels allow for rapid detection or exclusion of pathogens causing meningitis and encephalitis (ME). The clinical impact of rapid multiplex PCR ME panel results on the duration of empiric antibiotic therapy is not well characterized.

Methods
We performed a retrospective prepost study at our institution that evaluated the clinical impact of a multiplex PCR ME panel among adults with suspected bacterial meningitis who received empiric antibiotic therapy and underwent lumbar puncture in the emergency department. The primary outcome was the duration of empiric antibiotic therapy.

Results
The positive pathogen detection rates were similar between pre- and post-multiplex PCR ME panel periods (17.5%, 24 of 137 vs 20.3%, 14 of 69, respectively). The median duration of empiric antibiotic therapy was significantly reduced in the post-multiplex PCR ME panel period compared with the pre-multiplex PCR ME panel period (34.7 vs 12.3 hours, P = .01). At any point in time, 46% more patients in the post-multiplex PCR ME panel period had empiric antibiotic therapy discontinued or de-escalated compared with the pre-multiplex PCR ME panel period (sex- and immunosuppressant use-adjusted hazard ratio 1.46, P = .01). The median hospital length of stay was shorter in the post-multiplex PCR ME panel period (3 vs 4 days, P = .03).

Conclusions
The implementation of the multiplex PCR ME panel for bacterial meningitis reduced the duration of empiric antibiotic therapy and possibly hospital length of stay compared with traditional microbiological testing methods.
Against the Void: Constituency Work and Connection Building Evidence from Australia
Authors: Petter Pandanus H 
Published: September 2021

AbstractPeter Mair argued that political parties and society are withdrawing from each other, thus creating a ‘void’ in the heart of representation in many established democracies. However, Members of Parliament (MPs) are increasing the time and resources devoted to constituency work. This article explores how MPs, as parties’ representatives, engage with constituents, and whether this work takes the disconnected form expected in a political void. Interviews with 20 Australian state legislators show MPs building policy, service, symbolic and partisan connections with citizens. Though parties no longer definitively structure representation, these findings highlight the importance of understanding party–society relationships in the constituency.
Of Maiming and Privilege: Rethinking War Disability through the Case of Francoist Spain, 1936–1989
Authors: Wright Stephanie 
Published: September 2021

Abstract
This article attempts to reconfigure current historiographical debates on war disability, which have hitherto tended to rely on ‘masculinity’ as an analytical framework. Instead, the case of the Francoist war disabled of the Spanish Civil War underscores the need to consider war disability in relation to broader social hierarchies, and the socio-political topographies in which these operate. In doing so, it is possible to understand how the Francoist war disabled occupied a relatively privileged space in twentieth-century Spain, despite and even because of the impairments they sustained in the Civil War. At the same time, Francoist war disability benefits left much to be desired, and clear differences emerged between the experiences of ‘military’ and ‘civilian’ veterans. In this sense, the Francoist war disabled were both favoured and under-served by the regime’s war disability policies. This research has broader relevance to scholars working on contexts beyond modern Spain, as it disrupts the traditional association of physical impairment with marginality, while highlighting the fluidity of perceptions and experiences of war disability according to socio-political context.
The emerging role of biomolecular condensates in plant immunity
Authors: Wang Wei , Gu Yangnan 
Published: September 2021

AbstractBiomolecular condensates are dynamic nonmembranous structures that seclude and concentrate molecules involved in related biochemical and molecular processes. Recent studies have revealed that a surprisingly large number of fundamentally important cellular processes are driven and regulated by this potentially ancient biophysical principle. Here, we summarize critical findings and new insights from condensate studies that are related to plant immunity. We discuss the role of stress granules and newly identified biomolecular condensates in coordinating plant immune responses and plant–microbe interactions.
Holistic insights from pollen omics: co-opting stress-responsive genes and ER-mediated proteostasis for male fertility
Authors: Sze Heven , Palanivelu Ravishankar , Harper Jeffrey F , Johnson Mark A 
Published: September 2021

Abstract
Sexual reproduction in flowering plants takes place without an aqueous environment. Sperm are carried by pollen through air to reach the female gametophyte, though the molecular basis underlying the protective strategy of the male gametophyte is poorly understood. Here we compared the published transcriptomes of Arabidopsis thaliana pollen, and of heat-responsive genes, and uncovered insights into how mature pollen (MP) tolerates desiccation, while developing and germinating pollen are vulnerable to heat stress. Germinating pollen expresses molecular chaperones or “heat shock proteins” in the absence of heat stress. Furthermore, pollen tubes that grew through pistils at basal temperature showed induction of the endoplasmic reticulum (ER) stress response, which is a characteristic of stressed vegetative tissues. Recent studies show MP contains mRNA–protein (mRNP) aggregates that resemble “stress” granules triggered by heat or other stresses to protect cells. Based on these observations, we postulate that mRNP particles are formed in maturing pollen in response to developmentally programmed dehydration. Dry pollen can withstand harsh conditions as it is dispersed in air. We propose that, when pollen lands on a compatible pistil and hydrates, mRNAs stored in particles are released, aided by molecular chaperones, to become translationally active. Pollen responds to osmotic, mechanical, oxidative, and peptide cues that promote ER-mediated proteostasis and membrane trafficking for tube growth and sperm discharge. Unlike vegetative tissues, pollen depends on stress-protection strategies for its normal development and function. Thus, heat stress during reproduction likely triggers changes that interfere with the normal pollen responses, thereby compromising male fertility. This holistic perspective provides a framework to understand the basis of heat-tolerant strains in the reproduction of crops.
Deep brain stimulation for psychiatric disorders: role of imaging in identifying/confirming DBS targets, predicting, and optimizing outcome and unravelling mechanisms of action
Authors: Georgiev Dejan , Akram Harith , Jahanshahi Marjan 
Published: September 2021

AbstractFollowing the established application of deep brain stimulation (DBS) in the treatment of movement disorders, new non-neurological indications have emerged, such as for obsessive–compulsive disorders, major depressive disorder, dementia, Gilles de la Tourette Syndrome, anorexia nervosa, and addictions. As DBS is a network modulation surgical treatment, the development of DBS for both neurological and psychiatric disorders has been partly driven by advances in neuroimaging, which has helped explain the brain networks implicated. Advances in magnetic resonance imaging connectivity and electrophysiology have led to the development of the concept of modulating widely distributed, complex brain networks. Moreover, the increasing number of targets for treating psychiatric disorders have indicated that there may be a convergence of the effect of stimulating different targets for the same disorder, and the effect of stimulating the same target for different disorders. The aim of this paper is to review the imaging studies of DBS for psychiatric disorders. Imaging, and particularly connectivity analysis, offers exceptional opportunities to better understand and even predict the clinical outcomes of DBS, especially where there is a lack of objective biomarkers that are essential to properly guide DBS pre- and post-operatively. In future, imaging might also prove useful to individualize DBS treatment. Finally, one of the most important aspects of imaging in DBS is that it allows us to better understand the brain through observing the changes of the functional connectome under neuromodulation, which may in turn help explain the mechanisms of action of DBS that remain elusive.
Floquet engineering of electric polarization with two-frequency drive
Authors: Ikeda Yuya , Kitamura Sota , Morimoto Takahiro 
Published: September 2021

Abstract
Electric polarization is a geometric phenomenon in solids and has a close relationship to the symmetry of the system. Here we propose a mechanism to dynamically induce and manipulate electric polarization by using an external light field. Specifically, we show that application of bicircular lights controls the rotational symmetry of the system and can generate electric polarization. To this end, we use Floquet theory to study a system subjected to a two-frequency drive. We derive an effective Hamiltonian with high-frequency expansions, for which the electric polarization is computed with the Berry phase formula. We demonstrate the dynamical control of polarization for a one-dimensional Su–Shrieffer–Heeger chain, a square lattice model, and a honeycomb lattice model.
The Impact of Total Joint Arthroplasty on Long-Term Physical Activity: A Secondary Analysis of the Health and Retirement Study
Authors: LeDoux Cherie V , Lindrooth Richard C , Stevens-Lapsley Jennifer E 
Published: September 2021

Abstract

Objective
Physical inactivity is the fourth-leading cause of global mortality and is prevalent among people with lower extremity osteoarthritis. Lower extremity osteoarthritis is the most common arthritis type afflicting older adults, and total joint arthroplasty (TJA) performed to address the condition is Medicare’s largest annual expense. Despite TJA intervention to address the disabling effects of osteoarthritis, physical activity (PA) level remains stable 6 months after TJA; however, the effect of TJA on long-term PA $(\ge$2 y) in a representative sample of older adults is unknown. The purpose of this study was to test the hypothesis that PA would remain stable in the long term.

Methods
In this longitudinal observational study, a probability-weighted difference-in-differences analysis was conducted to observe the predictive margins of nontraumatic hip or knee TJA on levels of vigorous and moderate PA after 2 years. A combined Health and Retirement Study data set of community-dwelling adults who were &gt;55 years old, had symptomatic osteoarthritis, and were in need of TJA between 2008 and 2018 (N = 4652) was used.

Results
TJA was not associated with vigorous PA ($\delta$ = 2.37; SE = 5.23) or moderate PA ($\delta$ = −2.84; SE = 7.76) after 2 years.

Conclusion
TJA was not associated with increased long-term PA in older adults with osteoarthritis.

Impact
Physical therapists should not assume that there will be a natural increase in PA after functional recovery from TJA procedures. Older adults with lower extremity osteoarthritis may benefit from PA screening and promotion practices in physical therapy services.

Lay Summary
Receiving a total joint replacement does not lead to increased physical activity levels 2 years after surgery.
The association of hemoglobin drop with in-hospital outcomes in COVID-19 patients
Authors: Kuno T , Miyamoto Y , Iwagami M , Ishimaru M , So M , Takahashi M , Egorova N N 
Published: September 2021

Abstract

Background
Bleeding events can be critical in hospitalized patients with COVID-19, especially those with aggressive anticoagulation therapy.

Aim
We aimed to investigate whether hemoglobin drop was associated with increased risk of acute kidney injury (AKI) and in-hospital mortality among patients with COVID-19.

Design
Retrospective cohort study.

Methods
This retrospective study was conducted by review of the medical records of 6683 patients with laboratory-confirmed COVID-19 hospitalized in the Mount Sinai Health system between 1st March 2020 and 30th March 2021. We compared patients with and without hemoglobin drop &gt;3 g/dl during hospitalization within a week after admissions, using inverse probability treatment weighted analysis (IPTW). Outcomes of interest were in-hospital mortality and AKI which was defined as serum creatine change of 0.3 mg/dl increase or 1.5 times baseline.

Results
Of the 6683 patients admitted due to COVID-19, 750 (11.2%) patients presented with a marked hemoglobin drop. Patients with hemoglobin drop were more likely to receive therapeutic anticoagulation within 2 days after admissions. Patients with hemoglobin drop had higher crude in-hospital mortality (40.8% vs. 20.0%, P &lt; 0.001) as well as AKI (51.4% vs. 23.9%, P &lt; 0.001) compared to those without. IPTW analysis showed that hemoglobin drop was associated with higher in-hospital mortality compared to those without (odds ratio (OR) [95% confidential interval (CI)]: 2.21 [1.54–2.88], P &lt; 0.001) as well as AKI (OR [95% CI]: 2.79 [2.08–3.73], P &lt; 0.001).

Conclusions
Hemoglobin drop during COVID-19 related hospitalizations was associated with a higher risk of AKI and in-hospital mortality.
Clinical assessment of cardiac impairment favored by two-dimensional speckle tracking echocardiology in patients with systemic sclerosis
Authors: Jiang Xintong , Zhang Feng , Li Yuhui , Ren Jingyi , Xu Dan , Cai Ruyi , Yi Zixi , Li Chun , Liu Tian , Zhang Xia , Yao Haihong , Zhu Tiangang , Mu Rong 
Published: September 2021

Abstract

Background
Cardiac involvement is a major cause of death in SSc, while early detection remains a challenge.

Objectives
The purpose of this study was to investigate the prevalence and clinical implications of cardiac impairment in SSc.

Methods
Ninety-five consecutive SSc patients [55.6  (13.8) years old, 5.3  (8.1) years from diagnosis] were included in the study. Patients with heart diseases onset prior to SSc were excluded. All patients underwent two-dimensional speckle-tracking echocardiology (2D-STE) with measuring left and right ventricular global longitudinal strain (GLS/RGLS). Clinical manifestation, laboratory evaluation (CRP, cTnI, antibodies, etc.) and ECG were collected at the same time. Comparisons between the SSc subgroups (lcSSc and dcSSc) were performed using Student’s t-test, Mann–Whitney U or Fisher’s exact test. Binary logistic regression was applied to determine the independent effects of variables in cardiac impairment.

Results
Early left and right ventricular impairment measured by GLS and RGLS were detected in 22.1% and 24.2% of the SSc patients, respectively. In comparison, only 2.1% showed reduced left ventricular ejection fraction (LVEF). Impaired GLS was mainly observed in the basal and medial segments of anterior, lateral and posterior left ventricle walls, and more profound in dcSSc. Elevated CRP (OR 3.561 95% CI: 1.071, 11.839, P &lt;0.05) was associated with reduced GLS/RGLS. The adoption of GLS/RGLS enhanced the efficacy of routine screening for cardiac impairment that 52.6% of patients showed potential cardiac impairment.

Conclusions
Cardiac impairment is a common manifestation in SSc. Increasing awareness of early cardiac impairment is warranted with elevated CRP and dcSSc.