bluuebunny/crossref_metadata_2025 huggingface dataset:
Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review
Authors: Falsaperla Raffaele , Giacchi Valentina , Aguglia Maria Giovanna , Mailo Janette , Longo Maria Grazia , Natacci Federica , Ruggieri Martino
Published: July 2021

Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.
Postactivation performance enhancement (PAPE) of sprint acceleration performance
Authors: Brink Nicholas J. , Constantinou Demitri , Torres Georgia
Published: July 2021

Postactivation performance enhancement (PAPE) is a principle that an acute bout of high‐intensity voluntary exercise is followed by an enhancement in strength, speed or power production. This study intended to show a direct correlation between intensity, specificity and the outcome of a maximal task of sprint accelerations compared to a previously defined weighted plyometric intervention. In a randomised controlled, double‐blind trial, professional footballers undertook 20 m maximal sprint accelerations at a baseline and at 2 and 6 min post‐intervention after 1 of 3 interventions; 2 repetitions of 20 m sprint accelerations (S), 3 × 10 alternative leg weighted bounding (P) and control (C). Relative to the baseline there was a significant improvement for S over 10 and 20 m at 2 min of 0.12m.s−1 and 0.11m.s−1 and 6 min of 0.11m.s−1 and 0.12m.s−1. Relative to the baseline P also had a significant improvement over 10 and 20 m at 2 min 0.09m.s−1 and 0.09m.s−1 and 6 min of 0.11m.s−1 and 0.09m.s−1. There was a significant improvement in C between 2 and 6 min post‐intervention at 10 and 20 m of 0.06m.s−1 and 0.08m.s−1. This finding suggests a maximal sprint acceleration may enhance the outcome of a subsequent maximal sprint acceleration at 2 min, but the latter results could not be directly attributed to the interventions as previous testing is likely to have influenced these outcomes.
Impact of Relationship and Communication Variables on Ambulatory Blood Pressure in Advanced Cancer Caregivers
Authors: Otto Amy K , Soriano Emily C , Birmingham Wendy C , Vadaparampil Susan T , Heyman Richard E , Ellington Lee , Reblin Maija
Published: July 2021

Background

Cancer impacts both patients and their family caregivers. Evidence suggests that caregiving stress, including the strain of taking on a new role, can elevate the risk of numerous health conditions, including high blood pressure (BP). However, the caregiver’s psychosocial experiences, including their interpersonal relationship with the patient, may buffer some of the negative physiological consequences of caregiving.

Purpose

To examine the influence of psychosocial contextual variables on caregiver ambulatory BP.

Methods

Participants were 81 spouse–caregivers of patients with advanced gastrointestinal or thoracic cancer. For an entire day at home with the patient, caregivers wore an ambulatory BP monitor that took readings at random intervals. Immediately after each BP reading, caregivers reported on physical circumstances (e.g., posture, activity) and psychosocial experiences since the last BP measurement, including affect, caregiver and patient disclosure, and role perceptions (i.e., feeling more like a spouse vs. caregiver). Multilevel modeling was used to examine concurrent and lagged effects of psychosocial variables on systolic and diastolic BP, controlling for momentary posture, activity, negative affect, and time.

Results

Feeling more like a caregiver (vs. spouse) was associated with lower systolic BP at the same time point. Patient disclosure to the caregiver since the previous BP reading was associated with higher diastolic BP. No lagged effects were statistically significant.

Conclusions

Caregivers’ psychosocial experiences can have immediate physiological effects. Future research should examine possible cognitive and behavioral mechanisms of these effects, as well as longer-term effects of caregiver role perceptions and patient disclosure on caregiver psychological and physical health.
Rooting for a Better World: American Literary History Today
Authors: Nelson Dana D
Published: July 2021

After the canon and culture wars of the 1980s and 1990s, some critics hazarded the possibility that American literature might fragment and disappear as a discipline. But 20 years later, as these book proposals suggest, we've abandoned totalizing national theories in favor of a more hemispheric study of how literatures variously treat sociological, political, ideological, historical, and environmental problems. We've entirely abandoned the nearly allwhite canon that characterized the study of American literature through the early 1980s; our literary archives are far more heterogeneous. While we've abandoned grand theories, there is much greater emphasis on the role of our own critical agency, and an impressive optimism about literature as an actual agent of power and its ability to participate in both indexing and making better worlds.
Optimal linkage disequilibrium splitting
Authors: Privé Florian
Published: July 2021

Motivation

A few algorithms have been developed for splitting the genome in nearly independent blocks of linkage disequilibrium. Due to the complexity of this problem, these algorithms rely on heuristics, which makes them suboptimal.

Results

Here, we develop an optimal solution for this problem using dynamic programming.

Availability

This is now implemented as function snp_ldsplit as part of R package bigsnpr.

Supplementary information

Supplementary data are available at Bioinformatics online.
Proteomic analysis of F1 hybrids and intermediate variants in aLittorina saxatilishybrid zone
Authors: Diz Angel P , Romero Mónica R , Galindo Juan , Saura María , Skibinski David O F , Rolán-Alvarez Emilio
Published: July 2021

Proteomic analysis was carried out on the Crab (upper-shore) and Wave (lower-shore) ecotypes of Littorina saxatilis from a hybrid zone at Silleiro Cape, Spain. Proteome profiles of individual snails were obtained. Protein expression in F1 hybrid snails bred in the laboratory and snails with intermediate shell phenotypes collected from the mid-shore were compared with Crab and Wave ecotypes using analytical approaches used to study dominance. Multivariate analysis over many protein spots showed that the F1 snails are distinct from both ecotypes but closer to the Wave ecotype. The intermediate snails are highly variable, some closer to the Crab and others to the Wave ecotype. Considered on a protein by protein basis, some proteins are significantly closer in expression to the Crab and others to the Wave ecotype for both F1 and intermediate snails. Furthermore, a significant majority of proteins were closer in expression to the Wave ecotype for the F1, consistent with the multivariate analysis. No such significant majority toward either the Crab or Wave ecotype was observed for the intermediate snails. The closer similarity of F1 and Wave ecotype expression patterns could be the result of similar selective pressures in the similar mid-shore and low-shore environments. For a significantly larger number of proteins, intermediate snails were closer in expression to the ecotype having the lower expression, for both Crab and Wave ecotypes. This is somewhat unexpected as lower expression might be expected to be an indication of impairment of function and lower fitness. Proteomic analysis could be important for the identification of candidate proteins useful for gaining improved understanding of adaptation and barriers to gene flow in hybrid zones.
Keeping an ear out: size relationship of the tympanic bullae and pinnae in bandicoots and bilbies (Marsupialia: Peramelemorphia)
Authors: Taylor Melissa C , Travouillon Kenny J , Andrew Margaret E , Fleming Patricia A , Warburton Natalie M
Published: July 2021

Bandicoots and bilbies (Order Peramelemorphia) occupy a broad range of habitats across Australia and New Guinea, from open, arid deserts to dense forests. This once diverse group has been particularly vulnerable to habitat loss and introduced eutherian predators, and numerous species extinctions and range retractions have occurred. Understanding reasons for this loss requires greater understanding of their biology. Morphology of the pinnae and tympanic bullae varies markedly among species. As hearing is important for both predator avoidance and prey location, the variability in ear morphology could reflect specialization and adaptation to specific environments, and therefore be of conservation relevance. We measured 798 museum specimens representing 29 species of Peramelemorphia. Controlling for phylogenetic relatedness and head length, pinna surface area was weakly negatively correlated with average precipitation (rainfall being our surrogate measure of vegetation productivity/complexity), and there were no environmental correlates with effective diameter (pinna width). Controlling for phylogenetic relatedness and skull length, tympanic bulla volume was negatively correlated with precipitation. Species that inhabited drier habitats, which would be open and allow sound to carry further with less obstruction, had relatively larger pinnae and tympanic bullae. In contrast, species from higher rainfall habitats, where sounds would be attenuated and diffused by dense vegetation, had the smallest pinnae and bullae, suggesting that low-frequency hearing is not as important in these habitats. Associations with temperature did not reach statistical significance. These findings highlight linkages between hearing traits and habitat that can inform conservation and management strategies for threatened species.
Large-scale sport events and COVID-19 infection effects: evidence from the German professional football ‘experiment’
Authors: Breidenbach Philipp , Mitze Timo
Published: July 2021

This paper studies the effects of large-scale sport events with live spectators on COVID-19 infection trends at the local population level. Specifically, we compare the development of incidence rates in 41 German Nomenclature of Territorial Units for Statistics level 3 (NUTS-3) districts hosting a professional football match with at least 1,000 spectators vis-à-vis similar districts without hosting a match. Our empirical analysis builds on difference-in-difference and dynamic event study estimation for panel data. Synthetic control method is applied as a robustness check. While our findings generally do not point to significant treatment effects for the full sample of match locations, we find some noteworthy exceptions. Districts hosting first league matches with spectator attendance above the median (> 6,300 persons) and, particularly, matches without strict face mask requirements experienced a significant relative rise in incidence rates 14 days after the match. We also find that intra-district mobility increases on match days in treated districts, highlighting the significance of professional football matches as mobility-based infection transmission channel.
New Tardigrade Opsins and Differential Expression Analyses Show Ontogenic Variation in Light Perception
Authors: Fleming James F , Pisani Davide , Arakawa Kazuharu
Published: July 2021

Opsins are light-sensitive proteins involved in many photoreceptive processes, including, but not limited to, vision and regulation of circadian rhythms. Arthropod (e.g., insects, spiders, centipedes, and crabs) opsins have been extensively researched, but the relationships and function of opsins found in lineages that are evolutionarily closely related to the arthropods remains unclear. Multiple, independent, opsin duplications are known in Tardigrada (the water bears), evidencing that protostome opsin duplications are not limited to the Arthropoda. However, the relationships, function, and expression of these new opsins are still unknown. Here, we use two tardigrade transcriptomes with deep coverage to greatly expand our knowledge of the diversity of tardigrade opsins. We reconstruct the phylogenetic relationships of the tardigrade opsins and investigate their ontogenetic expression. We found that while tardigrades have multiple opsins that evolved from lineage-specific duplications of well-understood arthropod opsins, their expression levels change during ontogeny such that most of these opsins are not co-temporally expressed. Co-temporal expression of multiple opsins underpins color vision in Arthropoda and Vertebrata. Our results clearly show duplications of both rhabdomeric and ciliary opsins within Tardigrada, forming clades specific to both the Heterotardigrada and Eutardigrada in addition to multiple independent duplications within genera. However, lack of co-temporal, ontogenetic, expression suggests that while tardigrades possess multiple opsins, they are unlikely to be able to distinguish color.
Getting a Grip on Secular Changes: Age–Period–Cohort Modeling of Grip Strength in the English Longitudinal Study of Ageing
Authors: O’Keefe Patrick , Mann Frank D , Clouston Sean , Voll Stacey , Muniz-Terrera Graciela , Lewis Nathan , Wanström Linda , Hofer Scott M , Rodgers Joseph L
Published: July 2021

Background

Grip strength is a popular and valuable measure in studies of physical functional capabilities in old age. The influence of historical trends and differential period-specific exposures can complicate the interpretation of biomarkers of aging and health and requires careful analysis and interpretation of aging, birth cohort, and period effects. This study evaluates the effects of aging, period, and cohort on grip strength in a population of adults and older adults.

Methods

We use more than 27 000 observations for individuals at least 50 years of age, born in approximately 1910–1960, from the English Longitudinal Study of Ageing to examine a variety of multilevel and cross-classified modeling approaches to evaluate age, period, and cohort effects. Our results extended Hierarchical Age–Period–Cohort modeling and compared our results with a set of 9 submodels with explicit assumptions to determine the most reliable modeling approach.

Results

Findings suggest grip strength is primarily related to age, with minimal evidence of either period and/or cohort effects. Each year’s increase in a person’s age was associated with a 0.40-kg decrease in grip strength, though this decline differs by gender.

Conclusions

We conclude that as the population ages, grip strength declines at a systematic and predictable rate equal to −0.40 kg per year (approximately −0.50 kg for men and −0.30 kg for women) in residents of England aged 50 and older. Age effects were predominant and most consistent across methodologies. While there was some evidence for cohort effects, such effects were minimal and therefore indicative that grip strength is a consistent physiological biomarker of aging.
Dissemination and Implementation of Evidence-Based Falls Prevention Programs: Reach and Effectiveness
Authors: Brach Jennifer S , Juarez Gardenia , Perera Subashan , Cameron Kathleen , Vincenzo Jennifer L , Tripken Jennifer
Published: July 2021

Background

Using the Reach, Effectiveness, Adoption, Implementation, and Maintenance framework, we describe the implementation of evidence-based fall prevention programs (EBFPPs) by Administration for Community Living grantees during 2014–2019.

Method

Forty-four grantees contributed to the national data repository. Data components include workshop information, participant information, attendance records, and organizational data. Data were collected before and after implementation of the EBFPPs.

Results

Ten different programs were offered in 35 states with the most common settings being senior centers (25.3%), residential facilities (16.8%), health care organizations (12.5%), and faith-based organizations (11.1%). Individuals who participated in the programs (N = 85 848) had an age of 75.5 ± 9.7 years and were primarily female (79.7%), and the majority (86.2%) reported at least some fear of falling. At the postprogram assessment, 31.8% reported less fear of falling, 21.6% reported fewer falls, and 10.1% reported fewer injurious falls (all p < .0001).

Conclusions

EBFPPs implemented by Administration for Community Living grantees reached over 85 000 older adults. Participation in the EBFPPs resulted in improved confidence, decreased fear of falling, and fewer falls and injurious falls. Future efforts should focus on reaching specific underserved minorities and examining the effectiveness of individual programs.
Gait Variability Is Associated With the Strength of Functional Connectivity Between the Default and Dorsal Attention Brain Networks: Evidence From Multiple Cohorts
Authors: Lo On-Yee , Halko Mark A , Devaney Kathryn J , Wayne Peter M , Lipsitz Lewis A , Manor Brad
Published: July 2021

Background

In older adults, elevated gait variability when walking has been associated with both cognitive impairment and future falls. This study leveraged 3 existing data sets to determine relationships between gait variability and the strength of functional connectivity within and between large-scale brain networks in healthy older adults, those with mild-to-moderate functional impairment, and those with Parkinson’s disease (PD).

Method

Gait and resting-state functional magnetic resonance imaging data were extracted from existing data sets on: (i) 12 older adults without overt disease yet with slow gait and mild executive dysfunction; (ii) 12 older adults with intact cognitive-motor function and age- and sex-matched to the first cohort; and (iii) 15 individuals with PD. Gait variability (%, coefficient of variation of stride time) during preferred walking speed was measured and correlated with the degree of functional connectivity within and between 7 established large-scale functional brain networks.

Results

Regression models adjusted for age and sex revealed that in each cohort, those with less gait variability exhibited greater negative correlation between fluctuations in resting-state brain activity between the default network and the dorsal attention network (functionally limited older: β = 4.38, p = .027; healthy older: β = 1.66, p = .032; PD: β = 1.65, p = .005). No other within- or between-network connectivity outcomes were consistently related to gait variability across all 3 cohorts.

Conclusion

These results provide strong evidence that gait variability is uniquely related to functional connectivity between the default network and the dorsal attention network, and that this relationship may be independent of both functional status and underlying brain disease.
Development and internal validation of a clinical prediction model for 90-day mortality after lung resection: the RESECT-90 score
Authors: Taylor Marcus , Martin Glen P , Abah Udo , Sperrin Matthew , Smith Matthew , Bhullar Dilraj , Shackcloth Michael , Woolley Steve , West Doug , Shah Rajesh , Grant Stuart W ,   the North West Thoracic Surgery Collaborative (NWTSC)
Published: July 2021

OBJECTIVES

The ability to accurately estimate the risk of peri-operative mortality after lung resection is important. There are concerns about the performance and validity of existing models developed for this purpose, especially when predicting mortality within 90 days of surgery. The aim of this study was therefore to develop a clinical prediction model for mortality within 90 days of undergoing lung resection.

METHODS

A retrospective database of patients undergoing lung resection in two UK centres between 2012 and 2018 was used to develop a multivariable logistic risk prediction model, with bootstrap sampling used for internal validation. Apparent and adjusted measures of discrimination (area under receiving operator characteristic curve) and calibration (calibration-in-the-large and calibration slope) were assessed as measures of model performance.

RESULTS

Data were available for 6600 lung resections for model development. Predictors included in the final model were age, sex, performance status, percentage predicted diffusion capacity of the lung for carbon monoxide, anaemia, serum creatinine, pre-operative arrhythmia, right-sided resection, number of resected bronchopulmonary segments, open approach and malignant diagnosis. Good model performance was demonstrated, with adjusted area under receiving operator characteristic curve, calibration-in-the-large and calibration slope values (95% confidence intervals) of 0.741 (0.700, 0.782), 0.006 (−0.143, 0.156) and 0.870 (0.679, 1.060), respectively.

CONCLUSIONS

The RESECT-90 model demonstrates good statistical performance for the prediction of 90-day mortality after lung resection. A project to facilitate large-scale external validation of the model to ensure that the model retains accuracy and is transferable to other centres in different geographical locations is currently underway.
The Influence of Snow Properties on Speed and Gait Choice in the Svalbard Rock Ptarmigan (Lagopus muta hyperborea)
Authors: Mármol-Guijarro A , Nudds R , Folkow L , Sellers W , Falkingham P , Codd J
Published: July 2021

Synopsis

Substrate supportiveness is linked to the metabolic cost of locomotion, as it influences the depth to which the foot of a moving animal will sink. As track depth increases, animals typically reduce their speed to minimize any potential energetic imbalance. Here, we examine how self-selected speed in the Svalbard rock ptarmigan is affected by snow supportiveness and subsequent footprint depth measured using thin-blade penetrometry and 3D photogrammetry, respectively. Our findings indicate that snow supportiveness and footprint depth are poor predictors of speed (r2 = 0.149) and stride length (r2 = 0.106). The ptarmigan in our study rarely sunk to depths beyond the intertarsal joint, regardless of the speed, suggesting that at this relatively shallow depth any increased cost is manageable. 3D reconstructions also indicate that the ptarmigan may exploit the compressive nature of snow to generate thrust during stance, as a trend toward greater foot rotations in deeper footprints was found. It remains unclear whether the Svalbard ptarmigan are deliberately avoiding unsupportive snowy substrates. However, if they do, these results would be consistent with the idea that animals should choose routes that minimize energy costs of locomotion.
Exceptional Changes in Skeletal Anatomy under Domestication: The Case of Brachycephaly
Authors: Geiger M , Schoenebeck J J , Schneider R A , Schmidt M J , Fischer M S , Sánchez-Villagra M R
Published: July 2021

Synopsis

“Brachycephaly” is generally considered a phenotype in which the facial part of the head is pronouncedly shortened. While brachycephaly is characteristic for some domestic varieties and breeds (e.g., Bulldog, Persian cat, Niata cattle, Anglo-Nubian goat, Middle White pig), this phenotype can also be considered pathological. Despite the superficially similar appearance of “brachycephaly” in such varieties and breeds, closer examination reveals that “brachycephaly” includes a variety of different cranial modifications with likely different genetic and developmental underpinnings and related with specific breed histories. We review the various definitions and characteristics associated with brachycephaly in different domesticated species. We discern different types of brachycephaly (“bulldog-type,” “katantognathic,” and “allometric” brachycephaly) and discuss morphological conditions related to brachycephaly, including diseases (e.g., brachycephalic airway obstructive syndrome). Further, we examine the complex underlying genetic and developmental processes and the culturally and developmentally related reasons why brachycephalic varieties may or may not be prevalent in certain domesticated species. Knowledge on patterns and mechanisms associated with brachycephaly is relevant for domestication research, veterinary and human medicine, as well as evolutionary biology, and highlights the profound influence of artificial selection by humans on animal morphology, evolution, and welfare.
Is Global Capitalism Compatible with Democracy? Inequality, Insecurity, and Interdependence
Authors: Milner Helen V
Published: July 2021

Global capitalism seems to be placing democracy, especially liberal democracy, under considerable stress. Support for populism has surged, especially for extreme right parties with populist and authoritarian programs. Inequality, insecurity, and interdependence—all associated with globalization—have grown globally and appear to be key sources of stress. New technologies spread readily by globalization are also a force for destabilization. Do these international forces pose existential challenges to democracy? Liberal democracy rests on a foundation of political equality among citizens; it requires free and fair elections, competition among programmatic parties, political legitimacy from public support, and institutional constraints on executive power and majority rule. Is the rise global capitalism eroding all of these key elements? If so, what can be done about it?
Regime Uncertainty and Interstate Conflict
Authors: Bas Muhammet A , Orsun Omer F
Published: July 2021

Regime type is an important variable in international relations. Numerous scholars have theorized its effects on actors’ crisis behavior and outcomes. Despite regime type's importance, the literature has not focused on the role its uncertainty might play in interstate politics. This is in stark contrast to the scholarly attention given to uncertainty about other similarly important variables like actor capabilities, intentions, or fighting costs. In this paper, we aim to address this gap in the literature by providing a theory of regime uncertainty's effects on conflict and developing a novel measure of uncertainty about regime type in interstate relations to test our hypotheses. We find that regime uncertainty breeds caution rather than conflict: higher uncertainty about the opponent's regime type makes conflict initiation and escalation less likely in disputes, and dyads with more uncertainty are less likely to experience conflict onset.
Feasibility study of a field survey to measure antimicrobial usage in humans and animals in the Mekong Delta region of Vietnam
Authors: Cuong Nguyen Van , Ly Nguyen Phuong Cam , Van Nguyen Thi Bich , Phu Doan Hoang , Kiet Bach Tuan , Hien Vo Be , Padungtod Pawin , Thwaites Guy , Choisy Marc , Carrique-Mas Juan
Published: July 2021

Background

Development of antimicrobial use (AMU) surveillance systems in humans and animals is a priority for many low- and middle-income countries; however accurate estimations are hampered by a diversity of animal production systems and metrics. The Mekong Delta region of Vietnam is a ‘hotspot’ of antimicrobial resistance and is home to a high density of humans and animal populations.

Objectives

To measure and compare AMU using different metrics (standing population, biomass and population correction unit) in the Mekong Delta, and to explore the potential of field-based data collection methods in the design of AMU surveillance systems.

Methods

We collected AMU data from humans and animals (chickens, ducks, Muscovy ducks, pigs) from 101 small-scale farms in the Mekong Delta over a fixed period (90 days in humans, 7 days in animals).

Results

Humans used 7.1 DDDkg, or 175.9 mg of antimicrobial active ingredients (AAIs) per kg of standing body mass annually; animals consumed 60.9 ADDkg or 1324 mg. In the Mekong Delta humans represented 79.3% of the total body mass but consumed 29.6% of AAIs by weight. AAIs regarded of critical importance by WHO represented 56.9% and 50.2% of doses consumed by animals and humans, respectively.

Conclusions

Using a One Health approach, we show that AMU can potentially be estimated from cross-sectional surveys, although results are hypothetical due to small sample size and are sensitive to the chosen population denominator. The methodology proposed here can potentially be scaled up be applied to design AMU surveillance in low-resource settings, allowing AMU reduction efforts to be focused on particular animal species.
Two carbapenem-resistant ST1:ST231:KL1:OCL1Acinetobacter baumanniistrains recovered in Tehran, Iran, carry AbaR31 in the chromosome and AbaR4 and TnaphA6in a RepAci6 plasmid
Authors: Douraghi Masoumeh , Aris Parisa , To Joyce , Myers Garry S A , Hamidian Mohammad
Published: July 2021

Objectives

To analyse the context of genes conferring antibiotic resistance in two carbapenem-resistant Acinetobacter baumannii isolates recovered in Tehran, Iran.

Methods

The antibiotic resistance phenotype for 28 antibiotics was determined using disc diffusion. The whole genome sequences of ABH008 and ABS200 were determined using the Illumina HiSeq X Ten platform. Resistance genes were identified using ResFinder and multilocus sequence types were determined using the Oxford and Institut Pasteur schemes.

Results

Isolates ABH008 and ABS200, recovered in 2012 and 2013, respectively, in two different Tehran hospitals, belong to the common global clone 1 lineage, ST1IP and ST231OX. They are resistant to sulfamethoxazole, tetracycline, gentamicin, amikacin, third-generation cephalosporins and carbapenems. Despite being isolated in different hospitals, phylogenetic analysis indicated they are closely related. Consistent with this, both isolates carry catA1, sul1, aacC1 and aadA1 in a novel variant of the AbaR3-type resistance island, named AbaR31. Both isolates are resistant to amikacin and carbapenems owing to aphA6 and oxa23, respectively. The oxa23 gene is located in the AbaR4 resistance island, and aphA6 in TnaphA6, and both mobile elements are in an ∼90 kbp plasmid encoding the putative RepAci6 replication initiation protein. Resistance to third-generation cephalosporins is due to the acquisition by homologous recombination of a 5 kb DNA segment that contains ISAba1-ampC from a ST623 strain.

Conclusions

The resistance gene complements of ABH008 and ABS200 were found in AbaR31 and a plasmid that encodes RepAci6. The close genetic relationship of ABH008 and ABS200, despite each being recovered from different hospitals, indicates transmission between the two hospitals.
Projecting the Prevalence and Costs of Metastatic Breast Cancer From 2015 through 2030
Authors: Gogate Anagha , Wheeler Stephanie B , Reeder-Hayes Katherine E , Ekwueme Donatus U , Fairley Temeika L , Drier Sarah , Trogdon Justin G
Published: July 2021

Background

This study projected the number of metastatic breast cancer (mBC) cases and costs (medical and productivity) attributable to mBC through 2030 among 3 age groups: younger (aged 18-44 years), midlife (aged 45-64 years), and older women (aged 65 years and older).

Methods

We developed a stock/flow model in which women enter the mBC population at initial diagnosis (de novo stage IV) or through progression of an earlier-stage cancer. Women exit the mBC population through death. Input parameters by age and phase of treatment came from the US Census, Surveillance, Epidemiology, and End Results and peer-reviewed literature.

Results

In 2030, we estimated there would be 246 194 prevalent cases of mBC, an increase of 54.8% from the 2015 estimate of 158 997. We estimated total costs (medical and productivity) of mBC across all age groups and phases of care were $63.4 billion (95% sensitivity range = $59.4-$67.4 billion) in 2015 and would increase to $152.4 billion (95% sensitivity range = $111.6-$220.4 billion) in 2030, an increase of 140%. Trends in estimated costs were higher for younger and midlife women than for older women.

Conclusions

The cost of mBC could increase substantially in the coming decade, especially among younger and midlife women. Although accounting for trends in incidence, progression, and survival, our model did not attempt to forecast structural changes such as technological innovations in breast cancer treatment and health-care delivery reforms. These findings can motivate early detection activities, direct value-driven mBC treatment, and provide a useful baseline against which to measure the effect of prevention and treatment efforts.
Chilling rather than photoperiod controls budburst for gymnosperm species in subtropical China
Authors: Pan Yuan-Qi , Zeng Xiu , Chen Wen-De , Tang Xin-Ran , Dai Kui , Du Yan-Jun , Song Xi-Qiang
Published: July 2021

The mechanisms regulating spring phenology have been extensively studied in angiosperm species. However, given that gymnosperms and angiosperms diverged 300 million years ago, phenology may be triggered by different cues in gymnosperm species. The regulatory mechanisms of phenology in subtropical regions remain largely unknown. In combination, it remains untested whether subtropical gymnosperm species have chilling requirements and are photosensitive. We conducted a climate chamber experiment with three chilling and three photoperiod treatments to investigate budburst during an 8-week forcing period. We tested whether budburst of eight gymnosperms species (Cryptomeria japonica, Cunninghamia lanceolata, Cupressus funebris, Ginkgo biloba, Metasequoia glyptostroboides, Pinus massoniana, Pseudolarix amabilis and Podocarpus macrophyllus) was photoperiod sensitive or has strong chilling requirements and whether photoperiod or chilling was more important for advancing budburst. Chilling advanced budburst and increased the percentage of budburst for gymnosperm species. Gymnosperm species required moderate chilling days to advance budburst. Interestingly, the forcing requirement for gymnosperm species was higher than that for angiosperms in the same forest, suggesting that gymnosperms may need more cumulative forcing to initiate budburst than do angiosperms. Compared with temperate gymnosperm species in Germany (194–600 °C days), the subtropical species studied here had a much higher forcing requirement (814–1150 °C days). The effects of photoperiod were minor, suggesting that chilling outweighs photoperiod in advancing budburst of gymnosperm species in this subtropical region. These results reveal that increased winter temperatures with continued global warming may impact not only angiosperms but also gymnosperms, leading to their delayed spring budburst.
Symptomatic spontaneous superior mesenteric artery dissection treated with endovascular stent repair
Authors: Kim Yonjae J , Beeman Brian R
Published: July 2021

Spontaneous isolated superior mesenteric artery dissection (SISMAD) is a rare condition in which patients develop an isolated dissection of the superior mesenteric artery without traumatic or iatrogenic causes. We present the case of a 52-year-old woman who presented with SISMAD and underwent endovascular stenting as her symptoms failed to respond to medical management. We also spend the bulk of the report discussing the current literature on management of SISMAD.
The cysteine-rich receptor-like kinase TaCRK3 contributes to defense against Rhizoctonia cerealis in wheat
Authors: Guo Feilong , Wu Tianci , Shen Fangdi , Xu Gangbiao , Qi Haijun , Zhang Zengyan
Published: July 2021

Sharp eyespot, caused by the necrotrophic fungal pathogen Rhizoctonia cerealis, is a devastating disease of bread wheat (Triticum aestivum). However, the molecular mechanisms underlying wheat defense against R. cerealis are still largely unknown. In this study, by comparative transcriptomic analysis we identified a novel cysteine-rich receptor-like kinase (CRK)-encoding gene, designated as TaCRK3, and investigated its role in defense against R. cerealis. TaCRK3 transcript abundance was significantly elevated by R. cerealis and exogenous ethylene treatments. Silencing of TaCRK3 significantly compromised resistance to R. cerealis and repressed expression of an ethylene biosynthesis enzyme-encoding gene, ACO2, and a subset of defense-associated genes in wheat, whose transcript levels are up-regulated by ethylene stimulus. TaCRK3 protein was localized at the plasma membrane in wheat. Noticeably, both the heterologously expressed TaCRK3 protein and its partial peptide harboring two DUF26 (DOMAIN OF UNKNOWN FUNCTION 26) domains could inhibit growth of R. cerealis mycelia. These results suggest that TaCRK3 mediates wheat resistance to R. cerealis through direct antifungal activity and heightening the expression of defense-associated genes in the ethylene signaling pathway. Moreover, its DUF26 domains are required for the antifungal activity of TaCRK3. Our results reveal that TaCRK3 is a promising gene for breeding wheat varieties with resistance to R. cerealis.
Free the Bun: Prevalence of Alopecia Among Active Duty Service Women, Fiscal Years 2010-2019
Authors: Korona-Bailey Jessica , Banaag Amanda , Nguyen Dana R , Pasieka Helena , Koehlmoos Tracey Pérez
Published: July 2021

Introduction

Active duty service women (ADSW) constitute 16% of the force. The prevalence of alopecia, a dermatologic condition characterized by hair loss, is understudied in regard to hairstyle regulations across the U.S. military services. Alopecia has several causes; one of which is due to tension on the scalp secondary to tight hairstyles. In the U.S., alopecia has a lifetime prevalence of 1.7-2.1%; no previous studies which evaluated this condition in service women were found.

Materials and Methods

We used the Military Health System Data Repository to perform a retrospective study to assess the prevalence of alopecia in ADSW from fiscal years (FYs) 2010 to 2019. Statistical analyses included descriptive statistics on patient demographics and trend analysis on the prevalence of alopecia over the 10-year study period.

Results

A total of 498,219 ADSW were identified over the 10-year study period, of which 2.40% had a diagnosis of alopecia. Overall, the prevalence of alopecia decreases over the 10-year period, with two observed periods of slight increase (FY 2013 to 2014 and FY 2018 to 2019) when comparing prevalence year-to-year. Of those diagnosed, the majority were young, Black, with a senior enlisted rank, and in the U.S. Army.

Conclusion

The prevalence of alopecia in ADSW is slightly higher than that in civilian populations and is most likely underreported. It is more commonly diagnosed in Black women than would be expected based on ratios of this population in military service. Policy changes to ensure that traction alopecia is a qualifying medical condition for Veterans Affairs disability compensation, mechanisms are in place for more specific coding in the electronic medical record, and treatment options to be covered by TRICARE are recommended. All U.S. military services should consider updating and evaluating regulations to improve the health and quality of life of ADSW.
The Effect of Wet Conditions and Surface Combat Swimming on Shooting
Authors: Kostoulas Ioannis D , Kounalakis Stylianos N , Toubekis Argyris G , Karagiannis Anastasios , Kaniadakis Antonios , Mavraganis Dimitrios , Karatrantou Konstantina , Gerodimos Vassilis
Published: July 2021

Introduction

Shooting ability is an important aspect of performance in some sports and is vital during a military operation. Load carriage, clothing, and equipment normally associated with fatigue and reduced field of vision or lack of stability at a specific point are important factors that affect the ability to aim when shooting. Additionally, gun support and equipment appear to differentially affect shooting ability with varying shooting positions. All of the studies examining these factors have taken place on dry land and not in water. However, up to date, no study has examined the effect of wet conditions, especially after surface combat swimming (sCS), on shooting ability in different shooting positions. The purpose of this study was to determine the effect of fatigue, produced by prolonged sCS, on a fighter’s shooting ability. In addition, we investigated whether the effect of fatigue and wet conditions differed between the shooting positions.

Materials and Methods

Forty-five participants performed 10 shots in a shooting simulator while standing (ST) and 10 shots while kneeling (KN). This was performed twice and in three conditions: dry, wet, and after 1,000 m of sCS.

Results

Wet conditions did not significantly affect shooting abilities. Surface combat swimming negatively affected shooting ability when both ST and KN. The reduction in the center of gravity (COG) of the shots after sCS was 3.7 ± 2.5% for ST and 3.5 ± 0.8% for KN (P < .01). This was accompanied by the increase in horizontal and vertical movement of the gun after the sCS (P < .01). Kneeling was more stable, as shown by a higher percentage of COG of the shots by 3.3 ± 0.1% (P < .01) and by fewer gun movements in both axes (P < .01).

Conclusions

In conclusion, combat swimming affects shooting ability, both in ST and in KN positions. The KN position provides better stability and improved shooting ability.
The small Cajal body-specific RNA 15 (SCARNA15) directs p53 and redox homeostasis via selective splicing in cancer cells
Authors: Beneventi Giulia , Munita Roberto , Cao Thi Ngoc Phuong , Madej Magdalena , Cieśla Maciej , Muthukumar Sowndarya , Krogh Nicolai , Nielsen Henrik , Swaminathan Vinay , Bellodi Cristian
Published: July 2021

Small Cajal body-specific RNAs (scaRNAs) guide post-transcriptional modification of spliceosomal RNA and, while commonly altered in cancer, have poorly defined roles in tumorigenesis. Here, we uncover that SCARNA15 directs alternative splicing (AS) and stress adaptation in cancer cells. Specifically, we find that SCARNA15 guides critical pseudouridylation (Ψ) of U2 spliceosomal RNA to fine-tune AS of distinct transcripts enriched for chromatin and transcriptional regulators in malignant cells. This critically impacts the expression and function of the key tumor suppressors ATRX and p53. Significantly, SCARNA15 loss impairs p53-mediated redox homeostasis and hampers cancer cell survival, motility and anchorage-independent growth. In sum, these findings highlight an unanticipated role for SCARNA15 and Ψ in directing cancer-associated splicing programs.
A mechanistic model captures the emergence and implications of non-genetic heterogeneity and reversible drug resistance in ER+ breast cancer cells
Authors: Sahoo Sarthak , Mishra Ashutosh , Kaur Harsimran , Hari Kishore , Muralidharan Srinath , Mandal Susmita , Jolly Mohit Kumar
Published: July 2021

Resistance to anti-estrogen therapy is an unsolved clinical challenge in successfully treating ER+ breast cancer patients. Recent studies have demonstrated the role of non-genetic (i.e. phenotypic) adaptations in tolerating drug treatments; however, the mechanisms and dynamics of such non-genetic adaptation remain elusive. Here, we investigate coupled dynamics of epithelial–mesenchymal transition (EMT) in breast cancer cells and emergence of reversible drug resistance. Our mechanism-based model for underlying regulatory network reveals that these two axes can drive one another, thus enabling non-genetic heterogeneity in a cell population by allowing for six co-existing phenotypes: epithelial-sensitive, mesenchymal-resistant, hybrid E/M-sensitive, hybrid E/M-resistant, mesenchymal-sensitive and epithelial-resistant, with the first two ones being most dominant. Next, in a population dynamics framework, we exemplify the implications of phenotypic plasticity (both drug-induced and intrinsic stochastic switching) and/or non-genetic heterogeneity in promoting population survival in a mixture of sensitive and resistant cells, even in the absence of any cell–cell cooperation. Finally, we propose the potential therapeutic use of mesenchymal–epithelial transition inducers besides canonical anti-estrogen therapy to limit the emergence of reversible drug resistance. Our results offer mechanistic insights into empirical observations on EMT and drug resistance and illustrate how such dynamical insights can be exploited for better therapeutic designs.
Characterization of a RAD51C-silenced high-grade serous ovarian cancer model during development of PARP inhibitor resistance
Authors: Hurley Rachel M , McGehee Cordelia D , Nesic Ksenija , Correia Cristina , Weiskittel Taylor M , Kelly Rebecca L , Venkatachalam Annapoorna , Hou Xiaonan , Pathoulas Nicholas M , Meng X Wei , Kondrashova Olga , Radke Marc R , Schneider Paula A , Flatten Karen S , Peterson Kevin L , Becker Marc A , Wong Ee Ming , Southey Melissa S , Dobrovic Alexander , Lin Kevin K , Harding Thomas C , McNeish Iain , Ross Christian A , Wagner Jill M , Wakefield Matthew J , Scott Clare L , Haluska Paul , Wahner Hendrickson Andrea E , Karnitz Larry M , Swisher Elizabeth M , Li Hu , Weroha S John , Kaufmann Scott H
Published: July 2021

Acquired PARP inhibitor (PARPi) resistance in BRCA1- or BRCA2-mutant ovarian cancer often results from secondary mutations that restore expression of functional protein. RAD51C is a less commonly studied ovarian cancer susceptibility gene whose promoter is sometimes methylated, leading to homologous recombination (HR) deficiency and PARPi sensitivity. For this study, the PARPi-sensitive patient-derived ovarian cancer xenograft PH039, which lacks HR gene mutations but harbors RAD51C promoter methylation, was selected for PARPi resistance by cyclical niraparib treatment in vivo. PH039 acquired PARPi resistance by the third treatment cycle and grew through subsequent treatment with either niraparib or rucaparib. Transcriptional profiling throughout the course of resistance development showed widespread pathway level changes along with a marked increase in RAD51C mRNA, which reflected loss of RAD51C promoter methylation. Analysis of ovarian cancer samples from the ARIEL2 Part 1 clinical trial of rucaparib monotherapy likewise indicated an association between loss of RAD51C methylation prior to on-study biopsy and limited response. Interestingly, the PARPi resistant PH039 model remained platinum sensitive. Collectively, these results not only indicate that PARPi treatment pressure can reverse RAD51C methylation and restore RAD51C expression, but also provide a model for studying the clinical observation that PARPi and platinum sensitivity are sometimes dissociated.