bluuebunny/crossref_metadata_2025_split huggingface dataset:
Screening relatives in arrhythmogenic right ventricular cardiomyopathy: yield of imaging and electrical investigations
Authors: Jurlander Rebecca , Mills Helen L , Espersen Kiri I , Raja Anna Axelsson , Svendsen Jesper Hastrup , Theilade Juliane , Iversen Kasper , Vejlstrup Niels , Bundgaard Henning , Christensen Alex Hørby 
Published: July 2019

AbstractAimsArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease and presymptomatic screening of relatives is recommended. In 2010, the Task Force Criteria (TFC2010) introduced specific diagnostic imaging parameters. The aim of the study was to evaluate the diagnostic yield of family screening and the value of different diagnostic modalities.Methods and resultsFamily evaluation, including cardiac magnetic resonance (CMR), is routinely offered to ARVC relatives at our institution. We retrospectively registered baseline characteristics, symptomatology, and results of non-invasive examinations from 2010 to 2016 and assessed the findings according to TFC2010. A total of 286 relatives (150 females; age 12–76 years; 251 first-degree) were included. A total of 103 (36%) individuals reported cardiovascular symptoms. The non-invasive workup showed that 101 (35%) relatives had ≥1 positive parameter on signal-averaged electrocardiogram (ECG), 40 (14%) had abnormal findings on Holter monitoring, 36 (13%) fulfilled an ECG criterion, six (2%) fulfilled CMR criteria, and echocardiographic abnormalities was seen in one (0.3%) relative. In total, 21 (7% overall; 13% among gene-positive subgroup) relatives were diagnosed with ARVC and 78 (27% overall; 49% among gene-positive subgroup) with borderline ARVC based on the combined non-invasive evaluations. Family history and electrical investigations alone diagnosed 20 out of 21 (95%) ARVC cases and 73 out of 78 (94%) borderline cases.ConclusionConsecutive evaluation of ARVC relatives diagnosed 7% with definite and 27% with borderline ARVC according to the TFC2010. Screening relatives for electrical abnormalities with 12 lead ECG, signal-averaged ECG, and Holter monitoring was more sensitive than imaging modalities.
Healthcare disparities for women hospitalized with myocardial infarction and angina
Authors: Jackson Alice M , Zhang Ruiqi , Findlay Iain , Robertson Keith , Lindsay Mitchell , Morris Tamsin , Forbes Brian , Papworth Richard , McConnachie Alex , Mangion Kenneth , Jhund Pardeep S , McCowan Colin , Berry Colin 
Published: July 2019

Abstract

Aims
Ischaemic heart disease persists as the leading cause of death in both men and women in most countries and sex disparities, defined as differences in health outcomes and their determinants, may be relevant. We examined sex disparities in presenting characteristics, treatment and all-cause mortality in patients hospitalized with myocardial infarction (MI) or angina.

Methods and results
We conducted a cohort study of all patients admitted with MI or angina (01 October 2013 to 30 June 2016) from a secondary care acute coronary syndrome e-Registry in NHS Scotland linked with national registers of community drug dispensation and mortality data. A total of 7878 patients hospitalized for MI or angina were prospectively included; 3161 (40%) were women. Women were older, more deprived, had a greater burden of comorbidity, were more often treated with guideline-recommended therapy preadmission and less frequently received immediate invasive management. Men were more likely to receive coronary angiography [adjusted odds ratio (OR) 1.52, confidence interval (CI) 1.37–1.68] and percutaneous coronary intervention (adjusted OR 1.68, CI 1.52–1.86). Women were less comprehensively treated with evidence-based therapies post-MI. Women had worse crude survival, primarily those with ST-elevation myocardial infarction (14.3% vs. 8.0% at 1 year, P &lt; 0.001), but this finding was explained by differences in baseline factors. Men with non-ST-elevation myocardial infarction had a higher risk of all-cause death at 30 days [adjusted hazard ratio (HR) 1.72, CI 1.16–2.56] and 1 year (adjusted HR 1.38, CI 1.12–1.69).

Conclusion
After taking account of baseline risk factors, sex differences in treatment pathway, use of invasive management, and secondary prevention therapies indicate disparities in guideline-directed management of women hospitalized with MI or angina.
Does medication administration affect the rate of orthodontic tooth movement and root resorption development in humans? A systematic review
Authors: Kaklamanos Eleftherios G , Makrygiannakis Miltiadis A , Athanasiou Athanasios E 
Published: July 2019

SummaryBackgroundRecently, the potential impact of different medications on the rate of orthodontic tooth movement and the associated root resorption has been systematically reviewed in animal studies and various effects have been shown. However, animal data cannot be extrapolated to human clinical situations directly.ObjectivesTo systematically investigate the most up to date available evidence from controlled human studies regarding the effect of medication administration on the rate of orthodontic tooth movement and associated root resorption development.Search methodsWe searched eight databases (covering also grey literature) without restrictions and we performed hand searching up until October 2018.Selection criteriaControlled studies in humans assessing the effect of various medications on the rate of orthodontic tooth movement and root resorption development.Data collection and analysisStudy selection was followed by data extraction and risk of bias assessment using the ROBINS-I tool for non-randomized and the Cochrane Risk of Bias Tool for randomized studies.ResultsEight studies, at various risk of bias, were finally identified. With regard to the rate of orthodontic tooth movement, local injections of prostaglandin E1 were found to exert an increasing effect, whereas systemic intake of nabumetone decreased it. Following tenoxicam administration, drinking water with fluoride or local injections of calcitriol (vitamin D metabolite), no significant effects were demonstrated. Concerning root resorption development, nabumetone administration was shown to reduce it, whereas fluoride, overall, was not observed to exert any effect. Only in individuals subjected to heavy orthodontic forces, did fluoride show a protective effect for the period of force application, but not in the longer term during retention.ConclusionsThe aforementioned substances may show varying effects on the rate of orthodontic tooth movement and root resorption development in human subjects. Despite the observed limitations, the orthodontist should be able to identify patients taking pharmaceuticals and consider any implications related to orthodontic treatment.RegistrationPROSPERO (CRD42017078208).
One Order Fits All? Birth Order and Education in Immigrant Families
Authors: Isungset Martin Arstad , Lillehagen Mats , Ugreninov Elisabeth 
Published: July 2019

AbstractBirth order causes social inequality between siblings. In Western countries, earlier-born perform better than later-born. In non-Western countries, however, earlier-born generally perform worse than later-born. We use administrative data to compare birth order effects between the native population and Norwegian-born children of immigrants (450,864 individuals nested within 202,191 families). The outcome is based on lower secondary school points—a combined measurement of all marks at the end of compulsory education. We found negative effects of birth order on school points for Norwegian natives. This finding is in line with previous studies from Western countries using measures of educational achievement. Birth order effects amongst Norwegian-born children of immigrant parents vary according to maternal country of origin, with some displaying similar effects as natives and others displaying no birth order effects. These findings are surprising in light of the main theories on birth order, which are universalistic and do not predict group-differences. We argue that the universalistic theories need to be supplemented to account for our findings, and discuss the potential importance of cultural variation in family-related behaviours such as strategic parenting, kindergarten attendance, and peer-influence in high-achieving immigrant groups.
Short-term diuretic withdrawal in stable outpatients with mild heart failure and no fluid retention receiving optimal therapy: a double-blind, multicentre, randomized trial
Authors: Rohde Luis E , Rover Marciane M , Figueiredo Neto Jose A , Danzmann Luiz C , Bertoldi Eduardo G , Simões Marcus V , Silvestre Odilson M , Ribeiro Antonio L P , Moura Lidia Zytynski , Beck-da-Silva Luis , Prado Debora , Sant'Anna Roberto T , Bridi Leonardo H , Zimerman André , Raupp da Rosa Priscila , Biolo Andréia 
Published: July 2019

Abstract

Aims
Although loop diuretics are widely used to treat heart failure (HF), there is scarce contemporary data to guide diuretic adjustments in the outpatient setting.

Methods and results
In a prospective, randomized and double-blind protocol, we tested the safety and tolerability of withdrawing low-dose furosemide in stable HF outpatients at 11 HF clinics in Brazil. The trial had two blindly adjudicated co-primary outcomes: (i) symptoms assessment quantified as the area under the curve (AUC) of a dyspnoea score on a visual-analogue scale evaluated at 4 time-points (baseline, Day 15, Day 45, and Day 90) and (ii) the proportion of patients maintained without diuretic reuse during follow-up. We enrolled 188 patients (25% females; 59 ± 13 years old; left ventricular ejection fraction = 32 ± 8%) that were randomized to furosemide withdrawal (n = 95) or maintenance (n = 93). For the first co-primary endpoint, no significant difference in patients’ assessment of dyspnoea was observed in the comparison of furosemide withdrawal with continuous administration [median AUC 1875 (interquartile range, IQR 383–3360) and 1541 (IQR 474–3124), respectively; P = 0.94]. For the second co-primary endpoint, 70 patients (75.3%) in the withdrawal group and 77 patients (83.7%) in the maintenance group were free of furosemide reuse during follow-up (odds ratio for additional furosemide use with withdrawal 1.69, 95% confidence interval 0.82–3.49; P = 0.16). Heart failure-related events (hospitalizations, emergency room visits, and deaths) were infrequent and similar between groups (P = 1.0).

Conclusions
Diuretic withdrawal did not result in neither increased self-perception of dyspnoea nor increased need of furosemide reuse. Diuretic discontinuation may deserve consideration in stable outpatients with no signs of fluid retention receiving optimal medical therapy.

ClinicalTrials.gov Identifier
NCT02689180.
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site
Authors: Mellor Greg J , Panwar Pankaj , Lee Andrea K , Steinberg Christian , Hathaway Julie A , Bartels Kirsten , Christian Susan , Balaji Seshadri , Roberts Jason D , Simpson Chris S , Boczek Nicole J , Tester David J , Radbill Andrew E , Mok Ngai-Shing , Hamilton Robert M , Kaufman Elizabeth S , Eugenio Paul L , Weiss Raul , January Craig , McDaniel George M , Leather Richard A , Erickson Christopher , Falik Shelley , Behr Elijah R , Wilde Arthur A M , Sanatani Shubhayan , Ackerman Michael J , Van Petegem Filip , Krahn Andrew D , Laksman Zachary 
Published: July 2019

Abstract

Aims
Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits.

Methods and results
Rare variants in CACNA1C were identified from genetic testing laboratories. Treating physicians provided clinical information. Variant pathogenicity was independently assessed according to recent guidelines. Pathogenic (P) and likely pathogenic (LP) variants were mapped onto a 3D modelled structure of the Cav1.2 protein. Nine P/LP variants, identified in 23 patients from 19 families with non-syndromic LQTS were identified. Six variants, found in 79% of families, clustered to a 4-residue section in the cytosolic II–III loop region which forms a region capable of binding STAC SH3 domains. Therefore, variants may affect binding of SH3-domain containing proteins. Arrhythmic events occurred in similar proportions of patients with II–III loop variants and with other P/LP variants (53% vs. 48%, P = 0.41) despite shorter QTc intervals (477 ± 31 ms vs. 515 ± 37 ms, P = 0.03). A history of sudden death was reported only in families with II–III loop variants (60% vs. 0%, P = 0.03). The predominant T-wave morphology was a late peaking T wave with a steep descending limb. Exercise testing demonstrated QTc prolongation on standing and at 4 min recovery after exercise.

Conclusion
The majority of P/LP variants in patients with CACNA1C-mediated LQT8 cluster in an SH3-binding domain of the cytosolic II–III loop. This represents a ‘mutation hotspot’ in LQT8. A late-peaking T wave with a steep descending limb and QT prolongation on exercise are commonly seen.
Understanding rapid infant weight gain prevention: a systematic review of quantitative and qualitative evidence
Authors: Rotevatn Torill A , Melendez-Torres G J , Overgaard Charlotte , Peven Kimberly , Hyldgaard Nilsen Jane , Bøggild Henrik , Høstgaard Anna Marie Balling 
Published: July 2019

Abstract

Background
Rapid infant weight gain (RIWG) is strongly related to childhood overweight and obesity, and prevention of RIWG is an approach to early years obesity prevention. This systematic review aimed to explore effectiveness, deliverers’ and recipients’ experiences of involvement, and key intervention components and processes of such prevention activities.

Methods
Key databases and websites were searched systematically for quantitative and qualitative studies covering intervention effectiveness, experiences with intervention involvement or process outcomes. After duplicate screening and quality assessment, papers were analyzed through narrative synthesis, thematic synthesis and intervention component analysis.

Results
Seven quantitative and seven qualitative studies were eligible for inclusion. Most intervention studies reported small, but significant results on infant weight gain. More significant results were measured on weight gain during the first compared with the second year of life. A weak evidence base made elaboration of the relationship between intervention effectiveness and content challenging. Home-delivered interventions may be more relevant for parents. Contextual factors, such as social norms, beliefs and professional identity should be considered during intervention development. Stakeholder involvement can be key to increase intervention acceptability and feasibility.

Conclusions
The field of RIWG prevention is new and evolving, but more research is needed before further conclusions about intervention effectiveness and intervention content can be drawn. Future interventions should take parents, health professionals and other contextual needs into account to improve chances of success. More research on long-term effects on overweight and obesity is needed.
Doses of hepatitis B revaccination needed for the seronegative youths to be seropositive to antibody against hepatitis B surface antigen
Authors: Jan Chyi-Feng , Liu Tzu-Hung , Ho Chien-Han , Chien Yin-Chu , Chang Che-Jui , Guo Fei-Ran , Huang Kuo-Chin 
Published: July 2019

Abstract

Objectives
To determine the required hepatitis B vaccine doses for subjects who were seronegative for three hepatitis B seromarkers during their youth who wish to have seroprotective antibodies against the hepatitis B surface antigen (anti-HBs).

Methods
We conducted a retrospective cohort study. From 2012 to 2015, graduate school students born after 1986 who were seronegative for three hepatitis B virus seromarkers at college entrance (n = 1037) were recruited. Four groups of subjects received zero to three doses of a hepatitis B vaccine booster at their free willingness, and their anti-HBs titre were measured at their graduate school entrance. Very low and extremely low antibody titres against the hepatitis B surface antigen were elucidated by graphic inference to determine the required booster dose cut-off value for seropositivity after revaccination.

Results
The anti-HBs seropositive rates in the four groups of subjects receiving the hepatitis B booster vaccine(s) were 17.7%, 52.1%, 78.6% and 90.9% for those receiving zero, one, two and three doses, respectively. In subjects with very low antibody titres against the hepatitis B surface antigen after one dose of the vaccine booster and subjects with an extremely low titre after two doses of the booster, the seropositive rates reached 95% at the cut-off value of 3 mIU/ml.

Conclusion
A seropositive rate of at least 95% can be reached by the administration of two hepatitis B booster doses to youths with extremely low antibody titres against the hepatitis B surface antigen (<3 mIU/ml) and administering one dose to those with very low titres (3–10 mIU/ml) at college.
Use of perioperative chemotherapy in colorectal cancer metastatic to the liver
Authors: Symonds Lynn K , Cohen Stacey A 
Published: July 2019

AbstractA curative-intent approach may improve survival in carefully selected patients with oligometastatic colorectal cancer. Aggressive treatments are most frequently administered to patients with isolated liver metastasis, though they may be judiciously considered for other sites of metastasis. To be considered for curative intent with surgery, patients must have disease that can be definitively treated while leaving a sufficient functional liver remnant. Neoadjuvant chemotherapy may be used for upfront resectable disease as a test of tumor biology and/or for upfront unresectable disease to increase the likelihood of resectability (so-called ‘conversion’ chemotherapy). While conversion chemotherapy in this setting aims to improve survival, the choice of a regimen remains a complex and highly individualized decision. In this review, we discuss the role of RAS status, primary site, sidedness, and other clinical features that affect chemotherapy treatment selection as well as key factors of patients that guide individualized patient-treatment recommendations for colorectal-cancer patients being considered for definitive treatment with metastasectomy.
Shared Pathogenomic Patterns Characterize a New Phylotype, Revealing Transition toward Host-Adaptation Long before Speciation of Mycobacterium tuberculosis
Authors: Sapriel Guillaume , Brosch Roland 
Published: July 2019

AbstractTuberculosis remains one of the deadliest infectious diseases of humanity. To better understand the evolutionary history of host-adaptation of tubercle bacilli (MTB), we sought for mycobacterial species that were more closely related to MTB than the previously used comparator species Mycobacterium marinum and Mycobacterium kansasii. Our phylogenomic approach revealed some recently sequenced opportunistic mycobacterial pathogens, Mycobacterium decipiens, Mycobacterium lacus, Mycobacterium riyadhense, and Mycobacterium shinjukuense, to constitute a common clade with MTB, hereafter called MTB-associated phylotype (MTBAP), from which MTB have emerged. Multivariate and clustering analyses of genomic functional content revealed that the MTBAP lineage forms a clearly distinct cluster of species that share common genomic characteristics, such as loss of core genes, shift in dN/dS ratios, and massive expansion of toxin–antitoxin systems. Consistently, analysis of predicted horizontal gene transfer regions suggests that putative functions acquired by MTBAP members were markedly associated with changes in microbial ecology, for example adaption to intracellular stress resistance. Our study thus considerably deepens our view on MTB evolutionary history, unveiling a decisive shift that promoted conversion to host-adaptation among ancestral founders of the MTBAP lineage long before Mycobacterium tuberculosis has adapted to the human host.
Multilocus Analysis Resolves the European Finch Epidemic Strain of Trichomonas gallinae and Suggests Introgression from Divergent Trichomonads
Authors: Alrefaei Abdulwahed Fahad , Low Ross , Hall Neil , Jardim Rodrigo , Dávila Alberto , Gerhold Rick , John Shinto , Steinbiss Sascha , Cunningham Andrew A , Lawson Becki , Bell Diana , Tyler Kevin 
Published: July 2019

AbstractIn Europe, Trichomonas gallinae recently emerged as a cause of epidemic disease in songbirds. A clonal strain of the parasite, first found in the United Kingdom, has become the predominant strain there and spread to continental Europe. Discriminating this epidemic strain of T. gallinae from other strains necessitated development of multilocus sequence typing (MLST). Development of the MLST was facilitated by the assembly and annotation of a 54.7 Mb draft genome of a cloned stabilate of the A1 European finch epidemic strain (isolated from Greenfinch, Chloris chloris, XT-1081/07 in 2007) containing 21,924 protein coding genes. This enabled construction of a robust 19 locus MLST based on existing typing loci for Trichomonas vaginalis and T. gallinae. Our MLST has the sensitivity to discriminate strains within existing genotypes confidently, and resolves the American finch A1 genotype from the European finch epidemic A1 genotype. Interestingly, one isolate we obtained from a captive black-naped fruit dove Ptilinopsus melanospilus, was not truly T. gallinae but a hybrid of T. gallinae with a distant trichomonad lineage. Phylogenetic analysis of the individual loci in this fruit dove provides evidence of gene flow between distant trichomonad lineages at 2 of the 19 loci examined and may provide precedence for the emergence of other hybrid trichomonad genomes including T. vaginalis.
Intraspecific Diversity of Fission Yeast Mitochondrial Genomes
Authors: Tao Yu-Tian , Suo Fang , Tusso Sergio , Wang Yan-Kai , Huang Song , Wolf Jochen B W , Du Li-Lin 
Published: July 2019

AbstractThe fission yeast Schizosaccharomyces pombe is an important model organism, but its natural diversity and evolutionary history remain under-studied. In particular, the population genomics of the S. pombe mitochondrial genome (mitogenome) has not been thoroughly investigated. Here, we assembled the complete circular-mapping mitogenomes of 192 S. pombe isolates de novo, and found that these mitogenomes belong to 69 nonidentical sequence types ranging from 17,618 to 26,910 bp in length. Using the assembled mitogenomes, we identified 20 errors in the reference mitogenome and discovered two previously unknown mitochondrial introns. Analyzing sequence diversity of these 69 types of mitogenomes revealed two highly distinct clades, with only three mitogenomes exhibiting signs of inter-clade recombination. This diversity pattern suggests that currently available S. pombe isolates descend from two long-separated ancestral lineages. This conclusion is corroborated by the diversity pattern of the recombination-repressed K-region located between donor mating-type loci mat2 and mat3 in the nuclear genome. We estimated that the two ancestral S. pombe lineages diverged about 31 million generations ago. These findings shed new light on the evolution of S. pombe and the data sets generated in this study will facilitate future research on genome evolution.