bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lessons from the Margin
Authors: Gomes Alberto 
Published: February 2019

As crises pelas quais a humanidade passa, sejam elas em âmbito ecológico, social ou humanitário, e relacionadas ao aumento da violência, tanto direta quanto estrutural, se inter-relacionam. Evidências indicam que as soluções formuladas para resolver as crises indicadas, desde o desenvolvimento e a modernização até o neoliberalismo e o desenvolvimento sustentável, não só fracassaram, mas, paradoxalmente, as exacerbaram. Inspirado nos modos de vida e práticas dos povos indígenas, especialmente dos Orang Asli (aborígines) na Malásia, este artigo ressalta uma paz ecológica que mescla o peacebuilding com estratégias ecológicas regenerativas. Nesse contexto, parte-se da ideia de que, ao levar em consideração a paz ecológica indígena, serão fomentadas soluções efetivas para a tríplice crise (ecológica, social e humanitária), implicando uma mudança paradigmática – de uma percepção antropocêntrica da natureza a uma percepção ecocêntrica; do hiperindividualismo à responsabilidade focada na comunidade; de uma perspectiva competitiva àquela focada em empatia, cooperação, compartilhamento e altruísmo; e do fetiche relacionado ao crescimento a um estilo de vida regenerativo, baseado nas necessidades.
PALAVRAS-CHAVE: PAZ ECOLÓGICA INDÍGENA • PEACEBUILDING • ESTRATÉGIAS ECOLÓGICAS REGENERATIVAS.
International Triadin Knockout Syndrome Registry
Authors: Clemens Daniel J. , Tester David J. , Giudicessi John R. , Bos J. Martijn , Rohatgi Ram K. , Abrams Dominic J. , Balaji Seshadri , Crotti Lia , Faure Julien , Napolitano Carlo , Priori Silvia G. , Probst Vincent , Rooryck-Thambo Caroline , Roux-Buisson Nathalie , Sacher Frederic , Schwartz Peter J. , Silka Michael J. , Walsh Mark A. , Ackerman Michael J. 
Published: February 2019

Background:

Triadin knockout syndrome (TKOS) is a rare, inherited arrhythmia syndrome caused by recessive null mutations in
TRDN
-encoded cardiac triadin. Based previously on 5 triadin null patients, TKOS has been characterized by extensive T-wave inversions, transient QT prolongation, and severe disease expression of exercise-induced cardiac arrest in early childhood refractory to conventional therapy.

Methods:

We have established the International Triadin Knockout Syndrome Registry to include patients who have genetically proven homozygous/compound heterozygous
TRDN
null mutations. Clinical/genetic data were collected using an online survey generated through REDCap.

Results:
Currently, the International Triadin Knockout Syndrome Registry includes 21 patients (11 males, average age of 18 years) from 16 families. Twenty patients (95%) presented with either cardiac arrest (15, 71%) or syncope (5, 24%) at an average age of 3 years. Mild skeletal myopathy/proximal muscle weakness was noted in 6 (29%) patients. Of the 19 surviving patients, 16 (84%) exhibit T-wave inversions, and 10 (53%) have transient QT prolongation > 480 ms. Eight of 9 patients had ventricular ectopy on exercise stress testing. Thirteen (68%) patients have received implantable defibrillators. Despite various treatment strategies, 14 (74%) patients have had recurrent breakthrough cardiac events.

Conclusion:

TKOS is a potentially lethal disease characterized by T-wave inversions in the precordial leads, transient QT prolongation in some, and recurrent ventricular arrhythmias at a young age despite aggressive treatment. Patients displaying this phenotype should undergo
TRDN
genetic testing as TKOS may be a cause for otherwise unexplained cardiac arrest in young children. As gene therapy advances, enrollment into the International Triadin Knockout Syndrome Registry is encouraged to better understand TKOS and to ready a well-characterized cohort for future
TRDN
gene therapy trials.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Authors: Ingles Jodie , Goldstein Jennifer , Thaxton Courtney , Caleshu Colleen , Corty Edward W. , Crowley Stephanie B. , Dougherty Kristen , Harrison Steven M. , McGlaughon Jennifer , Milko Laura V. , Morales Ana , Seifert Bryce A. , Strande Natasha , Thomson Kate , Peter van Tintelen J. , Wallace Kathleen , Walsh Roddy , Wells Quinn , Whiffin Nicola , Witkowski Leora , Semsarian Christopher , Ware James S. , Hershberger Ray E. , Funke Birgit 
Published: February 2019

Background:
Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. Recent trends to increase gene panel sizes often mean variants in genes with questionable association are reported to patients. Classification of HCM genes and variants is critical, as misclassification can lead to genetic misdiagnosis. We show the validity of previously reported HCM genes using an established method for evaluating gene-disease associations.

Methods:
A systematic approach was used to assess the validity of reported gene-disease associations, including associations with isolated HCM and syndromes including left ventricular hypertrophy. Genes were categorized as having definitive, strong, moderate, limited, or no evidence of disease causation. We also reviewed current variant classifications for HCM in ClinVar, a publicly available variant resource.

Results:

Fifty-seven genes were selected for curation based on their frequent inclusion in HCM testing and prior association reports. Of 33 HCM genes, only 8 (24%) were categorized as definitive (
MYBPC3
,
MYH7
,
TNNT2
,
TNNI3
,
TPM1
,
ACTC1
,
MYL2
, and
MYL3
); 3 had moderate evidence (
CSRP3, TNNC1
, and
JPH2
; 33%); and 22 (66%) had limited (n=16) or no evidence (n=6). There were 12 of 24 syndromic genes definitively associated with isolated left ventricular hypertrophy. Of 4191 HCM variants in ClinVar, 31% were in genes with limited or no evidence of disease association.

Conclusions:
The majority of genes previously reported as causative of HCM and commonly included in diagnostic tests have limited or no evidence of disease association. Systematically curated HCM genes are essential to guide appropriate reporting of variants and ensure the best possible outcomes for HCM families.
Sudden Cardiac Death in Women
Authors: Haukilahti M. Anette E. , Holmström Lauri , Vähätalo Juha , Kenttä Tuomas , Tikkanen Jani , Pakanen Lasse , Kortelainen Marja-Leena , Perkiömäki Juha , Huikuri Heikki , Myerburg Robert J. , Junttila M. Juhani 
Published: February 2019

Background:
Despite recent progress in profiling of risk for sudden cardiac death (SCD) and prevention and intervention of cardiac diseases, SCD remains a major cause of death. Among women, the incidence of SCD is significant, but lower than in men, particularly in the premenopausal and early postmenopausal years. Possibly, as a consequence of the difference in population burden, the mechanisms and risk markers of SCD are not as well defined for women. The aim of this study was to determine the autopsy findings and causes of death among women in a large SCD population. Additionally, we sought to classify prior ECG characteristics in male and female subjects with SCD.

Methods:
The Fingesture study has systematically collected clinical and autopsy data from subjects with SCD in Northern Finland between 1998 and 2017. The cohort consists of 5869 subjects with SCD. Previously recorded ECGs were available and analyzed in 1101 subjects (18.8% of total population; and in 25.3% of women).

Results:

Female subjects with SCD were significantly older than men: 70.1±13.1 years versus 63.5±11.8 years (mean ± standard deviation,
P
<0.001). The most frequently identified cause of death was ischemic heart disease in both sexes: 71.7% among women versus 75.7% among men,
P
=0.005. In contrast, women were more likely to have nonischemic cause of SCD than men (28.3% versus 24.3%,
P
=0.005). The prevalence of primary myocardial fibrosis was higher among women (5.2%, n=64) than in men (2.6%, n=120;
P
<0.001). Female subjects with SCD were more likely to have normal prior ECG tracings (22.2% versus 15.3% in men,
P
<0.001). A normal ECG was even more common among nonischemic female subjects with SCD (27.8% versus 16.2% in men,
P
=0.009). However, ECG markers of left ventricular hypertrophy, with or without repolarization abnormalities, were more common among women (8.2%; 17.9%) than in men (4.9%; 10.6%,
P
=0.036;
P
<0.001, respectively).

Conclusions:
Women were considerably older at the time of SCD and more commonly had nonischemic causes. Women were also more likely to have a prior normal ECG than men, but an increased marker for SCD risk based on ECG criteria for left ventricular hypertrophy with repolarization abnormalities was more commonly observed in women.
Circulating Microparticles Are Elevated in Treated HIV‐1 Infection and Are Deleterious to Endothelial Cell Function
Authors: Hijmans Jamie G. , Stockelman Kelly A. , Garcia Vinicius , Levy Ma'ayan V. , Brewster L. Madden , Bammert Tyler D. , Greiner Jared J. , Stauffer Brian L. , Connick Elizabeth , DeSouza Christopher A. 
Published: February 2019

Background

Circulating microparticles have emerged as biomarkers and effectors of vascular disease. Elevated rates of cardiovascular disease are seen in
HIV
‐1–seropositive individuals. The aims of this study were to determine: (1) if circulating microparticles are elevated in antiretroviral therapy–treated
HIV
‐1–seropositive adults; and (2) the effects of microparticles isolated from
antiretroviral therapy
–treated
HIV
‐1–seropositive adults on endothelial cell function, in vitro.

Methods and Results

Circulating levels of endothelial‐, platelet‐, monocyte‐, and leukocyte‐derived microparticles were determined by flow cytometry in plasma from 15 healthy and 15 antiretroviral therapy–treated, virologically suppressed
HIV
‐1–seropositive men. Human umbilical vein endothelial cells were treated with microparticles from individual subjects for 24 hours; thereafter, endothelial cell inflammation, oxidative stress, senescence, and apoptosis were assessed. Circulating concentrations of endothelial‐, platelet‐, monocyte‐, and leukocyte‐derived microparticles were significantly higher (≈35%–225%) in the
HIV
‐1–seropositive compared with healthy men. Microparticles from
HIV
‐1–seropositive men induced significantly greater endothelial cell release of interleukin‐6 and interleukin‐8 (≈20% and ≈35%, respectively) and nuclear factor‐κB expression while suppressing anti‐inflammatory microRNAs (miR‐146a and miR‐181b). Intracellular reactive oxygen species production and expression of
reactive oxygen species
–related heat shock protein 70 were both higher in cells treated with microparticles from the
HIV
‐1–seropositive men. In addition, the percentage of senescent cells was significantly higher and sirtuin 1 expression lower in cells treated with
HIV
‐1–related microparticles. Finally, caspase‐3 was significantly elevated by microparticles from
HIV
‐1–seropositive men.

Conclusions

Circulating concentrations of endothelial‐, platelet‐, monocyte‐, and leukocyte‐derived microparticles were higher in antiretroviral therapy–treated
HIV
‐1–seropositive men and adversely affect endothelial cells promoting cellular inflammation, oxidative stress, senescence, and apoptosis. Circulating microparticles may contribute to the vascular risk associated with
HIV
‐1 infection.
Diabetes Mellitus–Related All‐Cause and Cardiovascular Mortality in a National Cohort of Adults
Authors: Raghavan Sridharan , Vassy Jason L. , Ho Yuk‐Lam , Song Rebecca J. , Gagnon David R. , Cho Kelly , Wilson Peter W. F. , Phillips Lawrence S. 
Published: February 2019

Background

Diabetes mellitus is a risk factor for cardiovascular disease (
CVD
) and has been associated with 2‐ to 4‐fold higher mortality. Diabetes mellitus–related mortality has not been reassessed in individuals receiving routine care in the United States in the contemporary era of
CVD
risk reduction.

Methods and Results

We retrospectively studied 963 648 adults receiving care in the
US
Veterans Affairs Healthcare System from 2002 to 2014; mean follow‐up was 8 years. We estimated associations of diabetes mellitus status and hemoglobin A1c (HbA1c) with all‐cause and
CVD
mortality using covariate‐adjusted incidence rates and multivariable Cox proportional hazards regression. Of participants, 34% had diabetes mellitus. Compared with nondiabetic individuals, patients with diabetes mellitus had 7.0 (95%
CI
, 6.7–7.4) and 3.5 (95% CI, 3.3–3.7) deaths/1000‐person‐years higher all‐cause and
CVD
mortality, respectively. The age‐, sex‐, race‐, and ethnicity‐adjusted hazard ratio for diabetes mellitus–related mortality was 1.29 (95% CI, 1.28–1.31), and declined with adjustment for
CVD
risk factors (hazard ratio, 1.18 [95% CI, 1.16–1.19]) and glycemia (hazard ratio, 1.03 [95% CI, 1.02–1.05]). Among individuals with diabetes mellitus,
CVD
mortality increased as HbA1c exceeded 7% (hazard ratios, 1.11 [95% CI, 1.08–1.14], 1.25 [95% CI, 1.22–1.29], and 1.52 [95% CI, 1.48–1.56] for HbA1c 7%–7.9%, 8%–8.9%, and ≥9%, respectively, relative to HbA1c 6%–6.9%). HbA1c 6% to 6.9% was associated with the lowest mortality risk irrespective of
CVD
history or age.

Conclusions

Diabetes mellitus remains significantly associated with all‐cause and
CVD
mortality, although diabetes mellitus–related excess mortality is lower in the contemporary era than previously. We observed a gradient of mortality risk with increasing HbA1c >6% to 6.9%, suggesting HbA1c remains an informative predictor of outcomes even if causality cannot be inferred.
Predicting Modafinil-Treatment Response in Poststroke Fatigue Using Brain Morphometry and Functional Connectivity
Authors: Visser Milanka M. , Maréchal Bénédicte , Goodin Peter , Lillicrap Thomas P. , Garcia-Esperon Carlos , Spratt Neil J. , Parsons Mark W. , Levi Christopher R. , Bivard Andrew 
Published: February 2019

Background and Purpose—
Poststroke fatigue affects a large proportion of stroke survivors and is associated with a poor quality of life. In a recent trial, modafinil was shown to be an effective agent in reducing poststroke fatigue; however, not all patients reported a significant decrease in fatigue with therapy. We sought to investigate clinical and radiological predictors of fatigue reduction with modafinil therapy in a stroke survivor cohort.

Methods—
Twenty-six participants with severe fatigue (multidimensional fatigue inventory–20 ≥60) underwent magnetic resonance imaging at baseline and during the last week of a 6-week treatment period of 200 mg modafinil taken daily. Resting-state functional magnetic resonance imaging and high-resolution structural imaging data were obtained, and functional connectivity and regional brain volumes within the fronto-striato-thalamic network were obtained. Linear regression analysis was used to identify predictors of modafinil-induced fatigue reduction.

Results—

Multiple regression analysis showed that baseline multidimensional fatigue inventory–20 score (β=0.576,
P
=0.006) and functional connectivity between the dorsolateral prefrontal cortex and the caudate nucleus (β=−0.424,
P
=0.008) were significant predictors of modafinil-associated decreases in poststroke fatigue (adjusted
r
2
=0.52, area under the receiver operator characteristic curve=0.939).

Conclusions—
Fronto-striato-thalamic functional connectivity predicted modafinil response for poststroke fatigue. Fatigue in other neurological disease has been attributed to altered function of the fronto-striato-thalamic network and may indicate that poststroke fatigue has a similar mechanism to other neurological injury related fatigue. Self-reported fatigue in patients with normal fronto-striato-thalamic functional connectivity may have a different mechanism and require alternate therapeutic approaches.

Clinical Trial Registration—

URL:
https://www.clinicaltrials.gov
. Unique identifier: ACTRN12615000350527.
Neotypification of Pleurocapsa fuliginosa and epitypification of P. minor (Pleurocapsales): resolving a polyphyletic cyanobacterial genus
Authors: SHALYGIN SERGEI , KAVULIC KATHERINE J. , PIETRASIAK NICOLE , BOHUNICKÁ MARKÉTA , VACCARINO MELISSA A. , CHESARINO NICHOLAS M. , JOHANSEN JEFFREY R. 
Published: February 2019

Strains with complete morphological match to Pleurocapsa fuliginosa and P. minor were isolated from Oahu, with another strain matching P. minor isolated from a wet rock face in Utah. Phylogenetically these baeocyte and pseudofilament producing strains fell in a single well-supported clade among a number of pleurocapsalean strains. They were sister to a clade of baeocyte-producing strains that lack the ability to form psuedofilaments and likely belong in an as-yet-to-be-described genus. Strains putatively named Pleurocapsa are scattered throughout the Pleurocapsales and Chroococcales, indicating a need for clear definition of the genus so that revisionary work and alpha-level taxonomy can move forward. To satisfy this need, P. fuliginosa HA4302-MV1 and P. minor HA4230-MV1 were chosen as neotype and epitype, respectively, establishing the genus based on molecular sequence data. In addition to the distinctive morphology of the genus, all Pleurocapsa species for which 16S-23S ITS regions are available have an unusually long, branched D5 helix at the termination of the ITS region. The sister clade of strains that lack the ability to form pseudofilaments also possess an unusually long and branched D5 helix as well, suggesting that this feature of the ITS region may be a family-level synapomorphy.
First Report and New Freshwater Species of Germainiella (Bacillariophyta) from the Maolan Nature Reserve, Guizhou Province, China
Authors: KOCIOLEK J. P. , YOU Q. M. , LOU F. , YU P. , LOWE R. L. , WANG Q. X. 
Published: February 2019

We present light and scanning electron microscopic observations on the valve ultrastructure of 4 species of the genus Germainiella from the Maolan Nature Reserve from Guizhou Province, China. This is the first report of the genus from China. The new species differ in the shape and size of the valves, but they all have the large conopeum covering the entire face of the valve. One species, G. sinica, lacks small tubules running perpendicular to the raphe opening, one of the defining features of the genus, and in having the large conopeum but lacking the tubules resembles another diatom, Fallacia emmae, described from the subantarctic region. We conclude that Germainiella and Fallacia, as typified by F. pygmaea, are not closely related, but species assigned to Fallacia may be closely related to Germainiella. A new combination, G. emmae, is proposed. We discuss the nature of conopea, and other small, finely-structured naviculoid diatoms that might be better placed in Germainiella. The genus is now recognized to have a total of 7 species, 4 of which are from the Maolan Nature Reserve.
Attempting to disentangle the relationship between impulsivity and longitudinal self-harm: Epidemiological analysis of UK household survey data
Authors: de Cates Angharad N , Catone Gennaro , Bebbington Paul , Broome Matthew R 
Published: February 2019

Background: Impulsivity may be an important risk factor in terms of future self-harm. However, the extent of this, whether it may relate to self-harm that is new in onset and/or repetition of self-harm, and the detail of any interaction with mood instability (MI) and childhood sexual abuse (CSA) requires detailed examination. Aims: We used the 2000 Adult Psychiatry Morbidity Survey and an 18-month follow-up data to test hypotheses relating to the role of impulsivity, CSA and MI in the inception and persistence of self-harm. Methods: We assessed associations of impulsivity with (1) suicidal self-harm (SSH) and (2) non-SSH (NSSH) at baseline and follow-up, controlling for confounders including MI. Finally, we tested whether impulsivity mediated the relationship between CSA and self-harm. Results: A total of 8,580 respondents were assessed at baseline and 2,406 at follow-up as planned. Impulsivity significantly predicted emergence of new NSSH at 18-month follow-up even after adjustment for MI and other confounders. Impulsivity did not significantly predict repetition of NSSH, or repetition or new inception of SSH, even before inclusion of MI in the model. However, the absolute numbers involved were small. Cross-sectionally, impulsivity was a stronger mediator of the link between CSA and SSH (13.1%) than that between CSA and NSSH (4.8%). Conclusion: Impulsivity may increase the risk of future development of NSSH independently of MI, which is clinically important for risk assessment. The involvement of impulsivity in the repetition of self-harm generally appears less certain. However, impulsivity may have a role in SSH in the context of previous CSA.
Surgery for Obstructive Sleep Apnea in Obese Children: Literature Review and Meta‐analysis
Authors: Scheffler Patrick , Wolter Nikolaus E. , Narang Indra , Amin Reshma , Holler Theresa , Ishman Stacey L. , Propst Evan J. 
Published: February 2019

ObjectivesSurgical intervention for obstructive sleep apnea (OSA) in overweight and obese children may not be as effective as it is in normal‐weight children. The purpose of this study was to systematically review the effects of various surgical interventions for OSA in obese children and to meta‐analyze the current data.Data SourcesPubMed, OVID, and Cochrane databases.Review MethodsDatabases were searched for studies examining adenotonsillectomy, uvulopalatopharyngoplasty, supraglottoplasty, or tongue base surgeries and combinations in obese children with OSA. Adenotonsillectomy was the only procedure with enough data for meta‐analysis; polysomnographic data were extracted and analyzed using a random‐effects model.ResultsFor adenotonsillectomy, 11 studies were included in the meta‐analysis. Despite significant improvement in the apnea‐hypopnea index (22.9 to 8.1 events/h, P <. 001), respiratory disturbance index (24.8 to 10.4 events/h, P <. 001), and oxygen saturation nadir (78.4% to 87.0%, P <. 001), rates of persistent OSA ranged from 51% to 66%, depending on the outcome criterion used. There was evidence of limited effectiveness for surgical interventions to treat OSA in obese children using uvulopalatoplasty (12.5%) and tongue base surgery (74%‐88%).ConclusionsSurgical interventions for OSA in overweight and obese children are effective at reducing OSA but with higher rates of persistent OSA than reported for normal‐weight children. However, the amount of reduction appears to vary by surgical procedure. More attention should be paid toward preoperative weight loss and patient selection, and parents should be provided with realistic postoperative expectations in this difficult‐to‐treat population.