bluuebunny/crossref_metadata_2025_split huggingface dataset:
Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn’s Disease
Authors: Chang Iksoo , Park Seongjun , Lee Hye-Jin , Kim Inki , Park Sojung , Ahn Mi Kyoung , Lee Juhwan , Kang Mooseok , Baek In-Jeoung , Sung Young Hoon , Pack Chan-Gi , Kang Hyo-jeong , Lee Kunsong , Im Ho Joon , Seo Eul Ju , Kim Kyung Mo , Yang Suk-Kyun , Song Kyuyoung , Oh Seak Hee 
Published: January 2021

Abstract

Background and Aims
Mutations in XIAP can lead to the development of treatment-refractory severe paediatric Crohn’s disease [CD], for which haematopoietic stem cell transplantation is the primary therapeutic option. The interpretation of variants of uncertain significance [VUSs] in XIAP needs to be scrutinized.

Methods
Targeted next-generation sequencing was performed for 33 male paediatric patients with refractory CD admitted at a tertiary referral hospital. To obtain functional data, biomolecular cell assays and supercomputing molecular dynamics simulations were performed.

Results
Nine unrelated male patients harboured hemizygous XIAP variants. Four known pathogenic variants and one novel pathogenic variant [p.Lys168Serfs*12] were identified in five patients, and two novel VUSs [p.Gly205del and p.Pro260Ser] and one known VUS [p.Glu350del] were identified in the remaining four. Among children with VUSs, only the subject with p.Gly205del exhibited defective NOD2 signalling. Using molecular dynamics simulation, we determined that the altered backbone torsional energy of C203 in XIAP of p.G205del was ~2 kcal/mol, suggesting loss of zinc binding in the mutant XIAP protein and poor coordination between the mutant XIAP and RIP2 proteins. Elevated auto-ubiquitination of zinc-depleted p.G205del XIAP protein resulted in XIAP protein deficiency.

Conclusion
A high prevalence of XIAP deficiency was noted among children with refractory CD. Advanced functional studies decreased the subjectivity in the case-level interpretation of XIAP VUSs and directed consideration of haematopoietic stem cell transplantation.
An international e-Delphi study to identify core competencies for Italian cardiac nurses
Authors: Bagnasco Annamaria , Barisone Michela , Aleo Giuseppe , Watson Roger , Catania Gianluca , Zanini Milko , Thompson David R , Sasso Loredana 
Published: January 2021

AbstractAimsThe management of cardiovascular patients requires increasingly competent nursing professionals. In Italy, there are no specific postgraduate courses focused on specialist cardiac skills development for nurses. To develop such courses, content incorporating appropriate competencies is required and this study was designed to meet this. To delineate a set of core competencies to develop national educational interventions to ensure cardiac nurses in Italy achieve international standards.Methods and resultsA three-round e-Delphi study including a panel of 32 expert cardiac nurses from the UK, Canada, Australia, New Zealand, and Italy was conducted; 26 respondents completed all three rounds. The first round sought a list of five competencies from each participant which they were asked to prioritize in Round 2. In Round 3, they were asked to prioritize again with the knowledge of the priorities identified in Round 2. The final list of competencies was those achieving 70% agreement among participants. We identified 14 core competencies spanning a range of areas of competence including technical, interpersonal, health promotion, use of evidence, and management. Only minor differences were evident between the Italian and the international panel regarding the priority given to some core competences, such a leadership and taking patient history.ConclusionThis is the first study in Italy to delineate cardiac nurses’ core competencies. As such, it provides a foundation for the development of postgraduate educational programmes for cardiac nurses including competencies that are congruent with international standards.
Issues in cyanobacterial taxonomy: comprehensive case study of unbranched, false branched and true branched heterocytous cyanobacteria
Authors: Mishra Deeksha , Saraf Aniket , Kumar Naresh , Pal Sagarika , Singh Prashant 
Published: January 2021

ABSTRACTThe order Nostocales is represented by morphologically diverse forms with respect to the branching patterns and polarity of the filaments. With growing understanding of taxonomy and systematics, members of the order Nostocales have also undergone multiple taxonomic revisions. The last decade has seen a surge in the description of new genera and families within the order Nostocales. In this study, we discuss the taxonomic status of all the newly described and reclassified taxa of some of the prominent morphological forms within the order Nostocales by constructing comprehensive phylogenetic trees. Further, we propose certain strategies that would contribute to resolving the taxonomic complexities arising due to inadequate taxon sampling.
The population genetics of ploidy change in unicellular fungi
Authors: Gerstein Aleeza C , Sharp Nathaniel P 
Published: January 2021

ABSTRACTChanges in ploidy are a significant type of genetic variation, describing the number of chromosome sets per cell. Ploidy evolves in natural populations, clinical populations, and lab experiments, particularly in unicellular fungi. Predicting how ploidy will evolve has proven difficult, despite a long history of theoretical work on this topic, as it is often unclear why one ploidy state outperforms another. Here, we review what is known about contemporary ploidy evolution in diverse fungal species through the lens of population genetics. As with typical genetic variants, ploidy evolution depends on the rate that new ploidy states arise by mutation, natural selection on alternative ploidy states, and random genetic drift. However, ploidy variation also has unique impacts on evolution, with the potential to alter chromosomal stability, the rate and patterns of point mutation, and the nature of selection on all loci in the genome. We discuss how ploidy evolution depends on these general and unique factors and highlight areas where additional experimental evidence is required to comprehensively explain the ploidy transitions observed in the field, the clinic, and the lab.
Multimorbidity Patterns and Memory Trajectories in Older Adults: Evidence From the English Longitudinal Study of Aging
Authors: Bendayan Rebecca , Zhu Yajing , Federman Alex D , Dobson Richard J B 
Published: January 2021

Abstract

Background
We aimed to examine the multimorbidity patterns within a representative sample of UK older adults and their association with concurrent and subsequent memory.

Methods
Our sample consisted of 11 449 respondents (mean age at baseline was 65.02) from the English Longitudinal Study of Aging (ELSA). We used 14 health conditions and immediate and delayed recall scores (IMRC and DLRC) over 7 waves (14 years of follow-up). Latent class analyses were performed to identify the multimorbidity patterns and linear mixed models were estimated to explore their association with their memory trajectories. Models were adjusted by sociodemographics, body mass index (BMI), and health behaviors.

Results
Results showed 8 classes: Class 1: Heart Disease/Stroke (26%), Class 2: Asthma/Lung Disease (16%), Class 3: Arthritis/Hypertension (13%), Class 4: Depression/Arthritis (12%), Class 5: Hypertension/Cataracts/Diabetes (10%), Class 6: Psychiatric Problems/Depression (10%), Class 7: Cancer (7%), and Class 8: Arthritis/Cataracts (6%). At baseline, Class 4 was found to have lower IMRC and DLRC scores and Class 5 in DLRC, compared to the no multimorbidity group (n = 6380, 55.72% of total cohort). For both tasks, in unadjusted models, we found an accelerated decline in Classes 1, 3, and 8; and, for DLRC, also in Classes 2 and 5. However, it was fully attenuated after adjustments.

Conclusions
These findings suggest that individuals with certain combinations of health conditions are more likely to have lower levels of memory compared to those with no multimorbidity and their memory scores tend to differ between combinations. Sociodemographics and health behaviors have a key role to understand who is more likely to be at risk of an accelerated decline.
Public health crisis in the refugee community: little change in social determinants of health preserve health disparities
Authors: Feinberg I , O’Connor M H , Owen-Smith A , Dube S R 
Published: January 2021

Abstract
Structural inequities and lack of resources put vulnerable refugee communities at great risk. Refugees flee their country of origin to escape persecution and flee from war, famine and torture. Resettled refugee communities become particularly vulnerable during times of crisis due to limited English proficiency and poor social determinants of health (SDOH), which create barriers to attaining and sustaining health and wellbeing for themselves and their families. The purpose of this case study was to evaluate SDOH among a refugee community in the Southeastern United States. We surveyed the community twice during a 1-year period to assess various elements of SDOH. Among a primarily African and Southeast Asian refugee community, 76% reported difficulty paying for food, housing and healthcare during the first round of surveys. During the second round of surveys at the beginning of the Coronavirus pandemic, 70% reported lost income; 58% indicated concern about paying bills. There was little change during the 12-month study period, showing that SDOH are an enduring measure of poor health and wellbeing for this vulnerable refugee community.
Prognostic significance of histopathological factors in survival and recurrence of atypical carcinoid tumours
Authors: García-Fontán Eva-María , Cañizares-Carretero Miguel-Ángel , Blanco-Ramos Montserrat , Matilla-González Jose-María , Carrasco-Rodríguez Rommel , Barreiro-Morandeira Francisco , García-Yuste Mariano ,   EMETNE members, Spanish Society of Pneumology and Thoracic Surgery
Published: January 2021

Abstract

OBJECTIVES
Atypical carcinoids are neuroendocrine neoplasms of intermediate degree and low frequency. The aim of this study is to analyse their clinical characteristics and the importance of different histopathological factors in their prognosis.

METHODS
Multicentre cooperative group EMETNE prospectively reviewed 153 patients operated on between 1998 and 2016 with diagnosis of atypical carcinoids. Clinical variables and histopathological features were assessed.

RESULTS
Mean age was 54.36 years, similar for both genders. Concerning pathological study, mean tumour size was 31.7 mm. Rosettes were presented in 17% of the cases and tumoural necrosis in 23.3%. The cell proliferation factor Ki-67 index was 10.7%. The 2- and 5-year overall survival rates were 95.8% and 88.9%, respectively. In the univariate study, statistically significant differences in survival were found for each of the categories of T, N and M factors. Mitotic index and quantification of expression of Ki-67 showed influence in overall survival, although without statistical significance. In the multivariate analysis, factors N, M and mitotic index behaved as independent prognostic factors related to survival. Median disease-free interval in the series was 163.35 months. In cases with loco-regional recurrence, 53% had positive hiliar or mediastinal nodal involvement at the time of the surgery. In the univariate analysis, we observed statistically significant differences in disease-free interval in patients with nodal involvement (P = 0.024) and non-anatomical resections (P = 0.04). Histological characteristics showed no statistically significant differences in disease-free interval.

CONCLUSIONS
Lymph node involvement, the development of distant metastasis and mitotic index, more than Ki-67 determination, were shown as independent prognostic factors related to survival of these patients.
Institutional Reform in Myanmar: Preventing Corporate Land Rights Abuses
Authors: Aguirre Daniel , Pietropaoli Irene 
Published: January 2021

Abstract
In 2011, after five decades of authoritarian rule, Myanmar accelerated its military-guided transition, culminating in partially democratic elections in 2015. While land reform was a central part of protest that led to governmental changes, unlawful land confiscation and forced evictions remain central obstacles to transition in Myanmar. The current government has failed to reform the legal framework, institutions, policy and practice violating Housing, Land and Property (HLP) rights. While civil society has called for participatory and accountable institutions, a perceived need to appease the military, to harness the economic power of ‘crony’ businesspeople and to attract foreign investment has left violations of HLP rights inadequately addressed. This article argues that transitional justice’s guarantees of non-reoccurrence are essential to the protection of HLP rights in Myanmar, and that the best method of preventing reoccurrence is through upholding the state duty to protect human rights by reforming laws and institutions.
Spatial distribution of Escherichia coli ST131 C subclades in a centralized Canadian urban region
Authors: Nobrega Diego , Peirano Gisele , Lynch Tarah , Finn Thomas J , Devinney Rebekah , Pitout Johann D D 
Published: January 2021

Abstract

Introduction
Escherichia coli ST131 is the most common multidrug-resistant (MDR) E. coli clone causing bloodstream infections (BSIs) in Calgary. This study describes patient characteristics and spatial distribution of ST131 subclades C1 and C2 causing BSIs in Calgary.

Methods
E. coli from blood (n = 685) obtained in Calgary, Canada, (2016) were PCR screened for ST131 and positives (n = 141) underwent whole genome sequencing. Patient characteristics were analysed using Fisher’s Exact/t-tests and spatial analysis was used to identify clusters.

Results
Overall, 21% of E. coli was identified as ST131 and clade C dominated the population. ST131-C2 was associated with blaCTX-M-15 and significantly more MDR than ST131-C1. The spatial distribution in Calgary showed that ST131-C1 was mainly present in long-term care (LTC) residents whereas ST131-C2 clustered in a specific North East (NE) Calgary sector comprising of six neighbourhoods without LTC centres. This NE sector has high immigration and travel rates from the Indian subcontinent.

Conclusions
This study showed that ST131 C subclades have different geographical distribution patterns in Calgary. We believe that recent travel to and immigration from certain high-risk regions for antimicrobial resistance are responsible for the ST131-C2 NE Calgary clustering pattern.
Molecular and functional diversity of the oxytocinase subfamily of M1 aminopeptidases
Authors: Tsujimoto Masafumi , Aoki Kazuma , Goto Yoshikuni , Ohnishi Atsushi 
Published: January 2021

Abstract
The placental leucine aminopeptidase/insulin-regulated aminopeptidase, endoplasmic reticulum aminopeptidase 1 and endoplasmic reticulum aminopeptidase 2 are part of a distinct subfamily of M1 aminopeptidases termed the ‘oxytocinase subfamily’. The subfamily members show molecular diversity due to differential usage of translation initiation sites, alternative splicing and multiple single nucleotide polymorphisms. It is becoming evident that, depending on their intracellular or extracellular location, members of the oxytocinase subfamily play important roles in the maintenance of homeostasis, including the regulation of blood pressure, maintenance of normal pregnancy, retention of memory and trimming of antigenic peptides presented to major histocompatibility complex class I molecules, by acting as either aminopeptidases or binding partners of specific functional proteins in the cells. Based on their molecular diversity and moonlighting protein-like properties, it is conceivable that the subfamily members exert pleiotropic effects during evolution, to become important players in the regulation of homeostasis.
The effects of tool eccentricity on individual P and S head waves in monopole acoustic LWD
Authors: Ji Yunjia , He Xiao , Chen Hao , Wang Xiuming 
Published: January 2021

Abstract
Velocities of P and S waves are main goals of downhole acoustic logging. In this work, we study the effects of an off-center acoustic tool on formation P and S head waves in monopole logging while drilling (LWD), which will be helpful for accurate interpretation of recorded logs. We first develop an analytic method to solve the wavefields of this asymmetric LWD model. Then using a branch-cut integration technique, we evaluate the contributions of branch points associated with P and S waves, and further investigate the effects of tool eccentricity on their characteristics of excitation, attenuation and waveforms. The analyses reveal that the variation of the excitation and attenuation of both P and S head waves with eccentricity depends on frequencies and receiver azimuths strongly. Besides, new resonance peaks appear in excitation spectra due to influences of poles of multipole modes near branch points when the monopole tool is off-center. According to semblance results of individual compressional and shear waveforms, extracted velocities are not affected by tool eccentricity in both fast and slow formations. In fast formations, spectra analyses indicate that S-wave excitation is more sensitive to tool eccentricity than P-wave. Moreover, resonance peaks in P-wave excitation spectra increase with the increasing eccentricity in all directions. In slow formations, off-center tools almost have no influence on both P and S waves at low frequencies, which suggests that the effects of tool eccentricity can be reduced by adjusting the source's operating frequency.
Longitudinal Study of Music Therapy’s Effectiveness for Premature Infants and Their Caregivers (LongSTEP): Feasibility Study With a Norwegian Cohort
Authors: Ghetti Claire M , Vederhus Bente Johanne , Gaden Tora Söderström , Brenner Annette K , Bieleninik Łucja , Kvestad Ingrid , Assmus Jörg , Gold Christian 
Published: January 2021

AbstractPremature infants and their parents experience significant stress during the perinatal period. Music therapy (MT) may support maternal–infant bonding during this critical period, but studies measuring impact across the infant’s first year are lacking. This nonrandomized feasibility study used quantitative and qualitative methods within a critical realist perspective to evaluate the feasibility, acceptability, and suitability of the treatment arm of the Longitudinal Study of music Therapy’s Effectiveness for Premature infants and their caregivers (LongSTEP) (NCT03564184) trial with a Norwegian cohort (N = 3). Families were offered MT emphasizing parent-led infant-directed singing during neonatal intensive care unit (NICU) hospitalization and across 3 months post-discharge. We used inductive thematic analysis of semi-structured interviews with parents at discharge from NICU and at 3 months and analyzed quantitative variables descriptively. Findings indicate that: (1) parents of premature infants are willing to participate in MT research where parental voice is a main means of musical interaction; (2) parents are generally willing to engage in MT in NICU and post-discharge phases, finding it particularly interesting to note infant responsiveness and interaction over time; (3) parents seek information about the aims and specific processes involved in MT; (4) the selected self-reports are reasonable to complete; and (5) the Postpartum Bonding Questionnaire appears to be a suitable measure of impaired maternal–infant bonding. Parents reported that they were able to transfer resources honed during MT to parent–infant interactions outside MT and recognized parental voice as a central means of building relation with their infants. Results inform the implementation of a subsequent multinational trial that will address an important gap in knowledge.
Disparities in Cancer Survival Among Adolescents and Young Adults: A Population-Based Study of 88 000 Patients
Authors: Murphy Caitlin C , Lupo Philip J , Roth Michael E , Winick Naomi J , Pruitt Sandi L 
Published: January 2021

Abstract

Background
Adolescents and young adults (AYA, aged 15-39 years) diagnosed with cancer comprise a growing, yet understudied, population. Few studies have examined disparities in cancer survival in underserved and diverse populations of AYA.

Methods
Using population-based data from the Texas Cancer Registry, we estimated 5-year relative survival of common AYA cancers and examined disparities in survival by race and ethnicity, neighborhood poverty, urban or rural residence, and insurance type. We also used multivariable Cox proportional hazards regression models to examine associations of race or ethnicity, neighborhood poverty, urban or rural residence, and insurance type with all-cause mortality.

Results
We identified 55 316 women and 32 740 men diagnosed with invasive cancer at age 15-39 years between January 1, 1995, and December 31, 2016. There were disparities in relative survival by race and ethnicity, poverty, and insurance for many cancer types. Racial and ethnic disparities in survival for men with non-Hodgkin lymphoma (74.5% [95% confidence interval (CI) = 72.1% to 76.7%] White vs 57.0% [95% CI = 51.9% to 61.8%] Black) and acute lymphocytic leukemia (66.5% [95% CI = 61.4% to 71.0%] White vs 44.4% [95% CI = 39.9% to 48.8%] Hispanic) were striking, and disparities remained even for cancers with excellent prognosis, such as testicular cancer (96.6% [95% CI = 95.9% to 97.2%] White vs 88.7% [95% CI = 82.4% to 92.8%] Black). In adjusted analysis, being Black or Hispanic, living in high-poverty neighborhoods, and having Medicaid, other government insurance, or no insurance at diagnosis were associated with all-cause mortality in both women and men (all 2-sided P &lt; .01).

Conclusions
Our study adds urgency to well-documented disparities in cancer survival in older adults by demonstrating persistent differences in relative survival and all-cause mortality in AYAs. Findings point to several areas of future research to address disparities in this unique population of cancer patients.