bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distal Radial Artery Access for Superficial Femoral Artery Interventions
Authors: Ruzsa Zoltán , Csavajda Ádám , Nemes Balázs , Deák Mónika , Sótonyi Péter , Bertrand Olivier F. , Merkely Béla 
Published: October 2020

Purpose: To compare the acute success and complication rates of distal radial (DR) vs proximal radial (PR) artery access for superficial femoral artery (SFA) interventions. Materials and Methods: Between 2016 and 2019, 195 consecutive patients with symptomatic SFA stenosis were treated via DR (n=38) or PR (n=157) access using a sheathless guide. Secondary access was achieved through the pedal artery when necessary. The main outcomes were technical success, major adverse events (MAEs), and access site complications. Secondary outcomes were treatment success, fluoroscopy time, radiation dose, procedure time, and crossover rate to another puncture site. Results: Overall technical success was achieved in 188 patients (96.4%): 37 of 38 patients (97.3%) in the DR group and 151 of 157 patients (96.2%) in the PR group (p=0.9). Dual (transradial and transpedal) access was used in 14 patients (36.8%) in the DR group and 28 patients (18.9%) in the PR group (p<0.01). Chronic total occlusions were recanalized in 25 of 26 DR patients (96.1%) and in 79 of 81 PR patients (92.6%) (p=0.57). The crossover rate to femoral access was 0% in the DR group vs 3.2% in the PR group (p=0.59). Stents were implanted in the SFA in 15 DR patients (39.4%) and in 39 patients (24.8%) in the PR group (p=0.1). The contrast volume, fluoroscopy time, radiation dose, and procedure time were not statistically different between the DR and PR groups, nor were the rates of access site complications (2.6% and 7.0%, respectively). The cumulative incidences of MAE at 6 months in the DR and PR groups were 15.7% vs 14.6%, respectively (p=0.8). Conclusion: SFA interventions can be safely and effectively performed using PR or DR access with acceptable morbidity and a high technical success rate. DR access is associated with few access site complications.
Measuring the occupational balance of people with insomnia in a Chinese population: Preliminary psychometric evidence on the Chinese version of the Occupational Balance Questionnaire
Authors: Ho Eris CM , Dür Mona , Stamm Tanja , Siu Andrew MH 
Published: October 2020

Background Occupational balance, a fundamental concept in occupational therapy, is the arrangement of right amount and variety of occupations contributes to a person’s health and well-being. This study was aimed to investigate the reliability and validity of the Chinese version of the Occupational Balance Questionnaire (OB-Quest) for people with insomnia. Methods The OB-Quest was translated into traditional Chinese and reviewed by an expert panel for content validity, cultural relevance and translation accuracy. Internal consistency, factor analysis and convergent validity, as well as test–retest reliability, were explored. Results The participants (n = 205), 115 adults with insomnia and 90 adults without insomnia, completed a survey of demographic background, the Chinese version of OB-Quest and the Chinese Insomnia Severity Index (C-ISI). The Chinese version of OB-Quest demonstrated excellent test–retest reliability (ICC= 0.98) and good internal consistency (Cronbach’s α  =  0.80). Factor analysis indicated that a single-factor solution explained 42% of the variance, and 9 out of 10 items had a factor loading of 0.4 or above. The Chinese version of OB-Quest had significant correlations with C-ISI (r = –0.88; p < 0.001). A significant difference was found in occupational balance between groups with different levels of insomnia severity and without insomnia (F = 169.72; p < 0.001). As in a previous study, age, living environment and life role had no significant relationship with occupational balance. Conclusion The Chinese version of OB-Quest is a short, easy to understand and culturally relevant assessment for Chinese. It demonstrates satisfactory psychometric properties and had significant correlations with insomnia.
Familial aggregation of multiple sclerosis: Results from the national registry of the disease in Saudi Arabia
Authors: AlJumah Mohammed , Otaibi Hessa Al , Al Towaijri Ghada , Hassan Ahmed , Kareem Abid , Kalakatawi Mamdouh , Alrajeh Saad , Al Mejally Mousa , Algahtani Hussein , Almubarak Ali , Alawi Sadaga , Qureshi Shireen , Al Malik Yaser , El-Metwally Ashraf , Shami Sahar , Ishak Samah , Bunyan Reem 
Published: October 2020

Background Multiple Sclerosis (MS) is a chronic CNS inflammatory disease commonly affecting young adults. Both genetics and environmental factors have been reported to have a role in pathophysiology of the disease. Objective This article aims to report familial nature and aspects of MS in Saudi Arabia. Method The study utilized data collected by the National Saudi MS Registry between 2015 and 2018; especially data relevant to the familial history of MS. SPSS 22 was used for all analysis and reporting. Statistical significance was set at p-value < 0.05. Results The registry included 20 hospitals and a total of 2516 patients from the different regions of Saudi Arabia with median age 32.00 (Range: 11–63) and 66.5% being female. About 12.8% of all registered patients reported a family history of MS (95%CI: 11.2-13.9). Reported parental consanguinity was significantly higher among patients with family history (FMS) (56.3%) compared to non-FMS patients (27.9%). 42.53% of FMS patients reported having siblings affected with MS (95%CI: 37.01–48.21), with more female siblings affected than males (63.4% vs 36.6% respectively). Conclusion Our Findings suggested that FMS was less prevalent than what was reported previously; however, parental consanguinity was significantly more prevalent among FMS patients than non-FMS. Our findings were in line with those reported in recent studies in the region, but lower than those reported by western countries indicating that increasing prevalence of MS in Saudi Arabia could be multifactorial and other environmental factors should be considered for understanding this recent rise in the prevalence of MS in Saudi Arabia.
Mind the Heart: Electrocardiography-gated cardiac computed tomography-angiography in acute ischaemic stroke—rationale and study design
Authors: Guglielmi Valeria , Rinkel Leon A , Groeneveld Nina-Suzanne , Lobé Nick HJ , Boekholdt S Matthijs , Bouma Berto J , Beenen Ludo FM , Marquering Henk A , Majoie Charles BLM , Roos Yvo BWEM , Randen Adrienne van , Planken R Nils , Coutinho Jonathan M 
Published: October 2020

Rationale About one-third of ischaemic strokes are caused by cardioembolism, and a substantial proportion of cryptogenic strokes likely also originate from the heart or aortic arch. Early determination of aetiology is important to optimise management. Computed Tomography-angiography of the heart is emerging as an alternative to echocardiography to detect cardio-aortic sources of embolism in stroke patients, but its diagnostic yield in acute ischaemic stroke has not been thoroughly assessed. Hypothesis: We hypothesise that electrocardiography-gated computed tomography-angiography of the heart and aortic arch, acquired in the acute phase in patients with ischaemic stroke, has a higher diagnostic yield than transthoracic echocardiography as a first-line screening method for detection of cardio-aortic sources of embolism. Methods and design Mind the Heart is a single-centre prospective observational cohort study. We will include consecutive adult patients with acute ischaemic stroke who are potentially eligible for reperfusion therapy. Patients undergo non-electrocardiography-gated computed tomography-angiography of the aortic arch, cervical and intracranial arteries, directly followed by prospective sequential electrocardiography-gated cardiac computed tomography-angiography. Routine work-up for cardioembolism including 12-leads electrocardiography, Holter electrocardiography and transthoracic echocardiography is performed as soon as possible. The primary endpoint is the proportion of patients with a predefined high-risk cardio-aortic source of embolism on computed tomography-angiography versus transthoracic echocardiography in patients who underwent both investigations. Based on an expected 5% additional yield of computed tomography-angiography, a sample size of 450 patients is required. Conclusions The Mind the Heart study will generate a reliable estimate of the diagnostic yield of echocardiography-gated cardio-aortic computed tomography-angiography performed in the acute phase of ischaemic stroke.
Application of OU processes to modelling temporal dynamics of the human microbiome, and calculating optimal sampling schemes
Authors: Kenney Toby , Gao Junqiu , Gu Hong 
Published: October 2020

AbstractBackgroundThe vast majority of microbiome research so far has focused on the structure of the microbiome at a single time-point. There have been several studies that measure the microbiome from a particular environment over time. A few models have been developed by extending time series models to accomodate specific features in microbiome data to address questions of stability and interactions of the microbime time series. Most research has observed the stability and mean reversion for some microbiomes. However, little has been done to study the mean reversion rates of these stable microbes and how sampling frequencies are related to such conclusions. In this paper, we begin to rectify this situation. We analyse two widely studied microbial time series data sets on four healthy individuals. We choose to study healthy individuals because we are interested in the baseline temporal dynamics of the microbiome.ResultsFor this analysis, we focus on the temporal dynamics of individual genera, absorbing all interactions in a stochastic term. We use a simple stochastic differential equation model to assess the following three questions. (1) Does the microbiome exhibit temporal continuity? (2) Does the microbiome have a stable state? (3) To better understand the temporal dynamics, how frequently should data be sampled in future studies? We find that a simple Ornstein–Uhlenbeck model which incorporates both temporal continuity and reversion to a stable state fits the data for almost every genus better than a Brownian motion model that contains only temporal continuity. The Ornstein–Uhlenbeck model also fits the data better than modelling separate time points as independent. Under the Ornstein–Uhlenbeck model, we calculate the variance of the estimated mean reversion rate (the speed with which each genus returns to its stable state). Based on this calculation, we are able to determine the optimal sample schemes for studying temporal dynamics.ConclusionsThere is evidence of temporal continuity for most genera; there is clear evidence of a stable state; and the optimal sampling frequency for studying temporal dynamics is in the range of one sample every 0.8–3.2 days.
MethHaplo: combining allele-specific DNA methylation and SNPs for haplotype region identification
Authors: Zhou Qiangwei , Wang Ze , Li Jing , Sung Wing-Kin , Li Guoliang 
Published: October 2020

AbstractBackgroundDNA methylation is an important epigenetic modification that plays a critical role in most eukaryotic organisms. Parental alleles in haploid genomes may exhibit different methylation patterns, which can lead to different phenotypes and even different therapeutic and drug responses to diseases. However, to our knowledge, no software is available for the identification of DNA methylation haplotype regions with combined allele-specific DNA methylation, single nucleotide polymorphisms (SNPs) and high-throughput chromosome conformation capture (Hi-C) data.ResultsIn this paper, we developed a new method, MethHaplo, that identify DNA methylation haplotype regions with allele-specific DNA methylation and SNPs from whole-genome bisulfite sequencing (WGBS) data. Our results showed that methylation haplotype regions were ten times longer than haplotypes with SNPs only. When we integrate WGBS and Hi-C data, MethHaplo could call even longer haplotypes.ConclusionsThis study illustrates the usefulness of methylation haplotypes. By constructing methylation haplotypes for various cell lines, we provide a clearer picture of the effect of DNA methylation on gene expression, histone modification and three-dimensional chromosome structure at the haplotype level. Our method could benefit the study of parental inheritance-related disease and hybrid vigor in agriculture.
Comparative transcriptome analysis suggests convergent evolution of desiccation tolerance in Selaginella species
Authors: Alejo-Jacuinde Gerardo , González-Morales Sandra Isabel , Oropeza-Aburto Araceli , Simpson June , Herrera-Estrella Luis 
Published: October 2020

Abstract
Background
Desiccation tolerant Selaginella species evolved to survive extreme environmental conditions. Studies to determine the mechanisms involved in the acquisition of desiccation tolerance (DT) have focused on only a few Selaginella species. Due to the large diversity in morphology and the wide range of responses to desiccation within the genus, the understanding of the molecular basis of DT in Selaginella species is still limited.

Results
Here we present a reference transcriptome for the desiccation tolerant species S. sellowii and the desiccation sensitive species S. denticulata. The analysis also included transcriptome data for the well-studied S. lepidophylla (desiccation tolerant), in order to identify DT mechanisms that are independent of morphological adaptations. We used a comparative approach to discriminate between DT responses and the common water loss response in Selaginella species. Predicted proteomes show strong homology, but most of the desiccation responsive genes differ between species. Despite such differences, functional analysis revealed that tolerant species with different morphologies employ similar mechanisms to survive desiccation. Significant functions involved in DT and shared by both tolerant species included induction of antioxidant systems, amino acid and secondary metabolism, whereas species-specific responses included cell wall modification and carbohydrate metabolism.

Conclusions
Reference transcriptomes generated in this work represent a valuable resource to study Selaginella biology and plant evolution in relation to DT. Our results provide evidence of convergent evolution of S. sellowii and S. lepidophylla due to the different gene sets that underwent selection to acquire DT
Massive iron overload and acute-on-chronic liver failure in a patient with Diamond–Blackfan anaemia: a case report
Authors: Assis-Mendonça Guilherme Rossi , Cunha-Silva Marlone , Fernandes Mariana Franson , Torres Luiza Dias , de Almeida Verissimo Monica Pinheiro , Okano Marcelo Trevisan Neves , Mazo Daniel Ferraz , Lalli Cristina Alba , Sevá-Pereira Tiago , Stelini Rafael Fantelli , da Costa Larissa Bastos Eloy 
Published: October 2020

Abstract
Background
Genetic anaemias lead us to reflect on the classic ‘trolley dilemma’, when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we do treat it through blood transfusions, leading to iron overload, which is a quite harmful consequence.

Case presentation
We present the case of a 34-year-old woman with Diamond–Blackfan anaemia (DBA). Bone marrow stem cell transplantation had not been accessible during her childhood, so she had been submitted to monthly blood transfusions throughout her life, leading to a hepatitis C virus infection (which was treated, achieving a sustained virological response when she was 18 years old), and secondary haemochromatosis. Despite chelation therapy, diffuse iron deposition was occurring in multiple organs, markedly in the heart and liver. Her serum ferritin was higher than 21,000 ng/mL and transferrin saturation reached 102%. When she faced heart decompensation, this congestive condition led to an acute liver injury overlapping pre-existing hepatic fibrosis. She progressed to haemodynamic and hepatic failure, with clinical features of acute-on-chronic liver failure (ACLF). Despite therapeutic optimisation, she died of respiratory insufficiency. An autopsy was performed and revealed the macroscopic and microscopic findings of a massive iron deposition in the liver, heart, lungs, spleen, bone marrow, thyroid and adrenal glands. We found marked advance of liver fibrosis (chronic damage), as well as necrosis of hepatocytes in zone 3 of the Rappaport acinus (acute damage), supporting the hypothesis of ACLF. The main feature responsible for acute liver decompensation seemed to be heart insufficiency.

Conclusion
This is the first case reporting the sequence: DBA, multiple blood transfusions, secondary haemochromatosis, advanced liver fibrosis, heart failure, ACLF and death. A multidisciplinary team is essential to care for DBA patients, since there is a significant emotional burden related to the disease, which might impair an effective chelation therapy and lead to severe consequences due to iron deposition.
KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas
Authors: Catic Aida , Kurtovic-Kozaric Amina , Sophian Ardis , Mazur Lech , Skenderi Faruk , Hes Ondrej , Rohan Stephen , Rakheja Dinesh , Kogan Jillene , Pins Michael R. 
Published: October 2020

Abstract
Background
Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children. Despite recent advancements in tumor genomics, there is limited data available regarding the genetic alterations characteristic of MA. The purpose of this study is to determine the frequency of metanephric adenoma cases exhibiting cytogenetic aberration t (9;15)(p24;q24), and to investigate the association between t (9,15) and BRAF mutation in metanephric adenoma.

Methods
This study was conducted on 28 archival formalin fixed paraffin-embedded (FFPE) specimens from patients with pathologically confirmed MA. Tissue blocks were selected for BRAF sequencing and fluorescent in situ hybridization (FISH) analysis for chromosomal rearrangement between KANK1 on chromosome 9 (9p24.3) and NTRK3 on chromosome 15 (15q25.3), which was previously characterized and described in two MA cases.

Results
BRAFV600E mutation was identified in 62% of our cases, 9 (38%) cases were BRAFWT, and 4 cases were uninformative. Of the 20 tumors with FISH results, two (10%) were positive for KANK1-NTRK3 fusion. Both cases were BRAFWT suggesting mutual exclusivity of BRAFV600E and KANK1-NTRK3 fusion, the first such observation in the literature.

Conclusions
Our data shows that BRAF mutation in MA may not be as frequent as suggested in the literature and KANK-NTRK3 fusions may account for a subset of BRAFWT cases in younger patients. FISH analysis for KANK1-NTRK3 fusion or conventional cytogenetic analysis may be warranted to establish the diagnosis of MA in morphologically and immunohistochemically ambiguous MA cases lacking BRAF mutations.
Recognition of stroke-related knowledge among community residents and the improvement after intensive health education: a cross-sectional study
Authors: Zhong Xuemin , Wang Jian , He Lanying , Xu Ronghua 
Published: October 2020

Abstract
Background
The high morbidity, mortality, and disability rates of stroke constitute a heavy burden to the society. The level of understanding about stroke warning symptoms and first aid systems among community residents was generally low. The aim of our work is to investigate stroke-related knowledge in community residents of Jinjiang district of Chengdu and to raise public awareness about stroke through an intensive educational program.

Methods
Nine communities in Jinjiang district were sampled and a questionnaire about stroke-related knowledge was applied before and after stroke educational activities. We analyzed the impact of such activities in stroke recognition and management.

Results
We collected 1685 valid questionnaires. The awareness about stroke risk before educational activities was 11.4%. The recognition of stroke warning signs among community residents was 29.8–59.5%. Among them, the recognition of major signs, such as limb weakness, language disorder, and imbalance was more than 50%. When faced with five stroke warning signs, the proportion of participants who chose to make an emergency call was 41.5%. Less than 10% of the participants chose to consult a doctor, take medicine, or wait. After strengthening publicity and educational activities regarding stroke, there was a significant improvement in the identification of stroke risk factors, warning signs, and stroke management. The percentage of participants who chose to make an emergency call increased from 53.2 to 82.7%.

Conclusions
The knowledge about stroke among community residents in Jinjiang District of Chengdu was low. Strengthening publicity and educational activities may raise awareness about stroke prioritizing call emergency after the onset of stroke signs.
Burden, associated risk factors and adverse outcomes of gestational diabetes mellitus in twin pregnancies in Al Ain, UAE
Authors: Alkaabi Juma , Almazrouei Raya , Zoubeidi Taoufik , Alkaabi Fatema M. , Alkendi Fatima Rashid , Almiri Amel Eisa , Sharma Charu , Souid Abdul-Kader , Ali Nasloon , Ahmed Luai A. 
Published: October 2020

Abstract
Background
Gestational diabetes mellitus (GDM) in singleton pregnancies represent a high-risk scenario. The incidence, associated factors and outcomes of GDM in twin pregnancies is not known in the UAE.

Methods
This was five years retrospective analysis of hospital records of twin pregnancies in the city of Al Ain, Abu Dhabi, UAE. Relevant data with regards to the pregnancy, maternal and birth outcomes and incidence of GDM was extracted from two major hospitals in the city. Regression models assessed the relationship between socio-demographic and pregnancy-related variables and GDM, and the associations between GDM and maternal and fetal outcomes at birth.

Results
A total of 404 women and their neonates were part of this study. The study population had a mean age of 30.1 (SD: 5.3), overweight or obese (66.5%) and were majority multiparous (66.6%). High incidence of GDM in twin pregnancies (27.0%). While there were no statistical differences in outcomes of the neonates, GDM mothers were older (OR: 1.09, 95% CI: 1.06–1.4) and heavier (aOR: 1.02, 95% CI: 1.00 -1.04). They were also likely to have had GDM in their previous pregnancies (aOR: 7.37, 95% CI: 2.76–19.73). The prognosis of mothers with twin pregnancies and GDM lead to an independent and increased odds of cesarean section (aOR: 2.34, 95% CI: 1.03–5.30) and hospitalization during pregnancy (aOR: 1.60, 95% CI: 1.16–2.20).

Conclusion
More than a quarter of women with twin pregnancies were diagnosed with GDM. GDM was associated with some adverse pregnancy outcomes but not fetal outcomes in this population. More studies are needed to further investigate these associations and the management of GDM in twin pregnancies.