bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unleashing implementation research to accelerate national noncommunicable disease responses
Authors: Collins Tea , Akselrod Svetlana , Berlina Daria , Allen Luke N 
Published: January 2022

AbstractNoncommunicable diseases (NCDs) are the leading cause of death and disability worldwide. They exact a disproportionate toll in low and middle-income countries, and the world is not on-track to meet international targets for reductions in premature NCD mortality. Largely, we know which policies work for tackling NCDs, and the World Health Organization (WHO) has developed a package of ‘best buy’ policies that are highly cost effective. However, we don’t necessarily know how to adapt and implement these policies in new populations and cultures. Implementation Research (IR) is emerging as a potent tool for gearing the international response, providing a scientific approach to study the processes used to implement policies and interventions and the contextual factors that affect these processes. Amidst growing interest from policymakers, we identify four main areas for action: high-level engagement with IR among international NCD leaders; domestic investment in technical capacity-building; the creation of new financing streams for IR research; and the development of multi-stakeholder engagement mechanisms that can convene and leverage the perspectives and resources of multiple actors with overlapping aims.
Different internal fixation methods for unstable distal clavicle fractures in adults: a systematic review and network meta-analysis
Authors: Xu Yinglong , Guo Xiaobo , Peng Hui , Dai Hai , Huang Zonggui , Zhao Jinmin 
Published: January 2022

AbstractBackgroundSurgical treatment is advised for unstable distal clavicle fractures (UDCFs). Various kinds of internal fixation methods have been used, but the best fixation is still controversial.MethodsWe systematically searched all studies comparing postoperative outcomes of coracoclavicular (CC) reconstruction (TightRope, EndoButton, Mersilene tape, suture anchor or suture), fracture osteosynthesis (clavicular hook plate (HP), locking compression plate (LCP), Kirschner wire and tension band (KWTB), Kirschner wire (KW)), and a combination of the two methods (LCP + CC or KWTB + CC) for UDCF in PubMed, Web of Science Core Collection via Ovid, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and China Biology Medicine (CBM) databases up to September 16, 2021, with no language restrictions. A network meta-analysis (NMA) was conducted to integrate direct and indirect evidence and assess the relative effects of the internal fixation methods. The probability of being the best treatment was assessed by the surface under the cumulative ranking curve (SUCRA).ResultsA total of 41 studies were included, involving 1969 patients and seven internal fixation methods. The NMA showed that LCP + CC fixation was associated with better efficacy (odds ratio (OR) 0.60, 95% CI 0.19–1.02, probability rank = 0.93) and fewer complications (odds ratio (OR) 0.22, 95% CI 0.09–0.51, probability rank = 0.69) than any other internal fixation method for UDCFs. The SUCRA probabilities of LCP + CC fixation were 98.6% for the Constant–Murley score and 93.9% for total complications.ConclusionsThe results of this study indicate that LCP + CC appears to be the best internal fixation method for UDCF. Limited to the quality and quantity of the included studies, much larger and higher-quality RCTs are required to confirm these conclusions.
Chinese herbal medicine treatment based on subgroup differentiation as adjunct therapy for Parkinson’s disease: study protocol of a pilot add-on, randomised, controlled, pragmatic clinical trial
Authors: Yuen Sam Chun Sum , Chua Ka Kit , Zhong Linda L. D. , Chan Kam Wa , Chan Conrad Kwan Ho , Chan Kam Leung , Lin Zhixiu , Mok Vincent , Lau Alexander Y. , Li Min 
Published: January 2022

Abstract
Background
Parkinson’s disease (PD) is a prevalent and debilitating condition. Conventional medications cannot control all symptoms and may inflict adverse effects. A survey reported that Chinese herbal medicine (CHM) is frequently sought. Existing CHM trials were contradictory and often of poor quality due to lack of methodological rigor. A national clinical guideline was drafted in China with diagnostic criteria and treatment strategy of Chinese medicine (CM) patterns subgroups of PD. The suggested CHM were found to exhibit neuroprotective effect in in vitro and in vivo studies. This trial aims to preliminarily assess the effect of CHM prescribed based on pattern differentiation on PD symptoms and patients’ quality of life, and evaluate the feasibility of the trial design for a future large-scale trial.

Methods
This trial will be a pilot assessor- and data analyst blind, add-on, randomised, controlled, pragmatic clinical trial. 160 PD patients will be recruited and randomised into treatment or control groups in a 1:1 ratio. The trial will be conducted over 32 weeks. PD patients in the treatment group will be stratified into subgroups based on CM pattern and receive CHM accordingly in addition to conventional medication (ConM). The control group will receive ConM only. The primary outcome will be part II of the Movement Disorder Society Sponsored Revision of Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Secondary outcomes will include part and total scores of MDS-UPDRS, domain and total scores of Non-motor symptom scale (NMSS). Adverse events will be monitored by monthly follow-ups and questionnaires. Mixed models will be used to analyse data by Jamovi and R.

Expected outcomes
The success of our trial will show that the pragmatic design with subgroup differentiation is feasible and can produce reliable results. It will also provide preliminary data of the effect of CHM on improving clinical outcomes and quality of PD patients. Data collected will be used to optimize study design of the future large-scale clinical study.

Ethical clearance
Ethical clearance of this study was given by the Research Ethics Committee of Hong Kong Baptist University (REC/20-21/0206).
Trial registration This trial is registered on ClinicalTrials.gov (NCT05001217, Date: 8/10/2021, https://clinicaltrials.gov/ct2/show/NCT05001217). Type of manuscript: clinical trial protocol (date: 3rd November, 2021, version 1)
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate
Authors: Mendiola Christina , Ortega Veronica , Britt Allison , Fonseca Rafael , Velagaleti Gopalrao 
Published: January 2022

Abstract
Background
Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases reported. Double aneuploidy mosaicism involving two different cell lines is rarer with only three cases reported.

Case presentation
We report a fourth case of double aneuploidy mosaicism on a baby. Results of a 24-h preliminary chromosome analysis at birth showed a mosaic karyotype, 47,XX,+18[15]/47,XX,+21[8]/48,XX,+21,+mar[7]. Reflex testing to SNP microarray with the same sample collected at birth showed gain of a 77.9 Mb region on chromosome 18 and gain of a 32.5 Mb region on chromosome 21. Microarray did not show any other copy number variants indicating that the marker chromosome may not contain any euchromatic material. A repeat chromosome analysis at 1-year of age showed a mosaic karyotype, 47,XX,+18[76]/47,XX,+21[4] with loss of the marker cell line.

Conclusion
Based on our results, we propose that the mosaic double autosomal trisomy in our case was due to two independent non-disjunction events in a normal zygote very early during embryogenesis.
SMARCA5 interacts with NUP98-NSD1 oncofusion protein and sustains hematopoietic cells transformation
Authors: Jevtic Zivojin , Matafora Vittoria , Casagrande Francesca , Santoro Fabio , Minucci Saverio , Garre’ Massimilliano , Rasouli Milad , Heidenreich Olaf , Musco Giovanna , Schwaller Jürg , Bachi Angela 
Published: January 2022

Abstract
Background
Acute myeloid leukemia (AML) is characterized by accumulation of aberrantly differentiated hematopoietic myeloid progenitor cells. The karyotyping-silent NUP98-NSD1 fusion is a molecular hallmark of pediatric AML and is associated with the activating FLT3-ITD mutation in > 70% of the cases. NUP98-NSD1 fusion protein promotes myeloid progenitor self-renewal in mice via unknown molecular mechanism requiring both the NUP98 and the NSD1 moieties.

Methods
We used affinity purification coupled to label-free mass spectrometry (AP-MS) to examine the effect of NUP98-NSD1 structural domain deletions on nuclear interactome binding. We determined their functional relevance in NUP98-NSD1 immortalized primary murine hematopoietic stem and progenitor cells (HSPC) by inducible knockdown, pharmacological targeting, methylcellulose assay, RT-qPCR analysis and/or proximity ligation assays (PLA). Fluorescence recovery after photobleaching and b-isoxazole assay were performed to examine the phase transition capacity of NUP98-NSD1 in vitro and in vivo.

Results
We show that NUP98-NSD1 core interactome binding is largely dependent on the NUP98 phenylalanine-glycine (FG) repeat domains which mediate formation of liquid-like phase-separated NUP98-NSD1 nuclear condensates. We identified condensate constituents including imitation switch (ISWI) family member SMARCA5 and BPTF (bromodomain PHD finger transcription factor), both members of the nucleosome remodeling factor complex (NURF). We validated the interaction with SMARCA5 in NUP98-NSD1+ patient cells and demonstrated its functional role in NUP98-NSD1/FLT3-ITD immortalized primary murine hematopoietic cells by genetic and pharmacological targeting. Notably, SMARCA5 inhibition did not affect NUP98-NSD1 condensates suggesting that functional activity rather than condensate formation per se is crucial to maintain the transformed phenotype.

Conclusions
NUP98-NSD1 interacts and colocalizes on the genome with SMARCA5 which is an essential mediator of the NUP98-NSD1 transformation in hematopoietic cells. Formation of NUP98-NSD1 phase-separated nuclear condensates is not sufficient for the maintenance of transformed phenotype, which suggests that selective targeting of condensate constituents might represent a new therapeutic strategy for NUP98-NSD1 driven AML.
Impact of psychological distress and psychophysical wellbeing on posttraumatic symptoms in parents of preterm infants after NICU discharge
Authors: Salomè Serena , Mansi Giuseppina , Lambiase Carmine V. , Barone Marta , Piro Valeria , Pesce Marcella , Sarnelli Giovanni , Raimondi Francesco , Capasso Letizia 
Published: January 2022

Abstract
Backgorund
Parents after Neonatal Intensive Care Unit (NICU) hospitalization of preterm infant may develop psychopathological symptoms.
The aim of the study was to determine how parental stress and psychophysical wellbeing affect posttraumatic symptoms (PTTS) in parents during the first year after NICU discharge. Moreover, this study aimed to explore any gender-specific difference in psychological distress among mothers and fathers.

Methods
Prospective study design from September 2018 to September 2019. 20 pairs of parents of preterm infants admitted to a tertiary-level NICU were enrolled. Primary outcome was evaluation of PTTS in parents of preterm infants at one year after NICU discharge through Impact of Event Scale- Revised. Secondary outcomes were: impact of parental stress, psychophysical wellbeing, anxiety and depression respectively through Parental Stressor Scale: NICU, Short Form Health Survey-36(SF-36), Self-rating Anxiety Scale and Self-rating Depression Scale.

Results
Mothers experienced higher rates of PTTS than fathers across the first year after NICU discharge (55% vs 20%). Maternal avoidance symptoms were associated with perception of their own infant look. Emotional aspects linked to maternal role predicted 36,8% of their hyperarousal symptoms. Maternal PTTS severity was predicted by their social functioning. Paternal mental health was associated both with maternal and paternal intrusive symptoms.. Maternal stress was associated with paternal avoidance symptoms. Paternal mental health predicted their hyperarousal symptoms (40%) and PTSD severity (52%).

Conclusions
Parents who experienced NICU hospitalization of their own infant are at heightened risk to develop psychopathological symptoms. According to our initial hypothesis, investigating parental psychophysical wellbeing, through SF-36, originally provides a valuable support to detect parents at higher risk to develop posttraumatic outcomes across the first year after NICU discharge. In addition, paternal depression deserves to be taken into account since hospitalization as it could impact paternal PTSD development. Finally, these findings provide an initial evidence of gender-related patterns in PTSD development and psychological distress among mothers and fathers across the first year of their infant.
Over-dispersed Trypanosoma cruzi parasite load in sylvatic and domestic mammals and humans from northeastern Argentina
Authors: Enriquez Gustavo Fabián , Bua Jacqueline , Orozco María Marcela , Macchiaverna Natalia Paula , Otegui Julián Antonio Alvarado , Argibay Hernán Darío , Fernández María del Pilar , Gürtler Ricardo Esteban , Cardinal Marta Victoria 
Published: January 2022

Abstract
Background
The distribution of parasite load across hosts may modify the transmission dynamics of infectious diseases. Chagas disease is caused by a multi-host protozoan, Trypanosoma cruzi, but the association between host parasitemia and infectiousness to the vector has not been studied in sylvatic mammalian hosts. We quantified T. cruzi parasite load in sylvatic mammals, modeled the association of the parasite load with infectiousness to the vector and compared these results with previous ones for local domestic hosts.

Methods
The bloodstream parasite load in each of 28 naturally infected sylvatic mammals from six species captured in northern Argentina was assessed by quantitative PCR, and its association with infectiousness to the triatomine Triatoma infestans was evaluated, as determined by natural or artificial xenodiagnosis. These results were compared with our previous results for 88 humans, 70 dogs and 13 cats, and the degree of parasite over-dispersion was quantified and non-linear models fitted to data on host infectiousness and bloodstream parasite load.

Results
The parasite loads of Didelphis albiventris (white-eared opossum) and Dasypus novemcinctus (nine-banded armadillo) were directly and significantly associated with infectiousness of the host and were up to 190-fold higher than those in domestic hosts. Parasite load was aggregated across host species, as measured by the negative binomial parameter, k, and found to be substantially higher in white-eared opossums, cats, dogs and nine-banded armadillos (range: k = 0.3–0.5) than in humans (k = 5.1). The distribution of bloodstream parasite load closely followed the “80–20 rule” in every host species examined. However, the 20% of human hosts, domestic mammals or sylvatic mammals exhibiting the highest parasite load accounted for 49, 25 and 33% of the infected triatomines, respectively.

Conclusions
Our results support the use of bloodstream parasite load as a proxy of reservoir host competence and individual transmissibility. The over-dispersed distribution of T. cruzi bloodstream load implies the existence of a fraction of highly infectious hosts that could be targeted to improve vector-borne transmission control efforts toward interruption transmission. Combined strategies that decrease the parasitemia and/or host–vector contact with these hosts would disproportionally contribute to T. cruzi transmission control.

Graphical Abstract
An early prediction model for gestational diabetes mellitus based on genetic variants and clinical characteristics in China
Authors: Wu Qi , Chen Yanmin , Zhou Menglin , Liu Mengting , Zhang Lixia , Liang Zhaoxia , Chen Danqing 
Published: January 2022

Abstract
Objectives
To evaluate the influence of genetic variants and clinical characteristics on the risk of gestational diabetes mellitus (GDM) and to construct and verify a prediction model of GDM in early pregnancy.

Methods
Four hundred seventy five women with GDM and 487 women without, as a control, were included to construct the prediction model of GDM in early pregnancy. Both groups had complete genotyping results and clinical data. They were randomly divided into a trial cohort (70%) and a test cohort (30%). Then, the model validation cohort, including 985 pregnant women, was used for the external validation of the GDM early pregnancy prediction model.

Results
We found maternal age, gravidity, parity, BMI and family history of diabetes were significantly associated with GDM (OR > 1; P < 0.001), and assisted reproduction was a critical risk factor for GDM (OR = 1.553, P = 0.055). MTNR1B rs10830963, C2CD4A/B rs1436953 and rs7172432, CMIP rs16955379 were significantly correlated with the incidence of GDM (AOR > 1, P < 0.05). Therefore, these four genetic susceptible single nucleotide polymorphisms (SNPs) and six clinical characteristics were included in the construction of the GDM early pregnancy prediction model. In the trial cohort, a predictive model of GDM in early pregnancy was constructed, in which genetic risk score was independently associated with GDM (AOR = 2.061, P < 0.001) and was the most effective predictor with the exception of family history of diabetes. The ROC-AUC of the prediction model was 0.727 (95% CI 0.690–0.765), and the sensitivity and specificity were 69.9% and 64.0%, respectively. The predictive power was also verified in the test cohort and the validation cohort.

Conclusions
Based on the genetic variants and clinical characteristics, this study developed and verified the early pregnancy prediction model of GDM. This model can help screen out the population at high-risk for GDM in early pregnancy, and lifestyle interventions can be performed for them in a timely manner in early pregnancy.
Model-based stratification of progression along the Alzheimer disease continuum highlights the centrality of biomarker synergies
Authors: Sadiq Muhammad Usman , Kwak Kichang , Dayan Eran ,   for the Alzheimer’s Disease Neuroimaging Initiative
Published: January 2022

AbstractBackgroundThe progression rates of Alzheimer’s disease (AD) are variable and dynamic, yet the mechanisms that contribute to heterogeneity in progression rates remain ill-understood. Particularly, the role of synergies in pathological processes reflected by biomarkers for amyloid-beta (‘A’), tau (‘T’), and neurodegeneration (‘N’) in progression along the AD continuum is not fully understood.MethodsHere, we used a combination of model and data-driven approaches to address this question. Working with a large dataset (N= 321 across the training and testing cohorts), we first applied unsupervised clustering on longitudinal cognitive assessments to divide individuals on the AD continuum into those showing fast vs. moderate decline. Next, we developed a deep learning model that differentiated fast vs. moderate decline using baseline AT(N) biomarkers.ResultsTraining the model with AT(N) biomarker combination revealed more prognostic utility than any individual biomarkers alone. We additionally found little overlap between the model-driven progression phenotypes and established atrophy-based AD subtypes. Our model showed that the combination of all AT(N) biomarkers had the most prognostic utility in predicting progression along the AD continuum. A comprehensive AT(N) model showed better predictive performance than biomarker pairs (A(N) and T(N)) and individual biomarkers (A, T, or N).ConclusionsThis study combined data and model-driven methods to uncover the role of AT(N) biomarker synergies in the progression of cognitive decline along the AD continuum. The results suggest a synergistic relationship between AT(N) biomarkers in determining this progression, extending previous evidence of A-T synergistic mechanisms.
Utilisation of virtual non-contrast images and virtual mono-energetic images acquired from dual-layer spectral CT for renal cell carcinoma: image quality and radiation dose
Authors: Zhang Xiaoxiao , Zhang Gumuyang , Xu Lili , Bai Xin , Lu Xiaomei , Yu Shenghui , Sun Hao , Jin Zhengyu 
Published: January 2022

Abstract
Background
Renal cell carcinoma (RCC) is the most common renal malignant tumour. We evaluated the potential value and dose reduction of virtual non-contrast (VNC) images and virtual monoenergetic images (VMIs) from dual-layer spectral CT (DL-CT) in the diagnosis of RCC.

Results
Sixty-two patients with pathologically confirmed RCC who underwent contrast-enhanced DL-CT were retrospectively analysed. For the comparison between true non-contrast (TNC) and VNC images of the excretory phase, the attenuation, image noise, signal-to-noise ratio (SNR) and subjective image quality of tumours and different abdominal organs and tissues were evaluated. To compare corticomedullary phase images and low keV VMIs (40 to 100 keV) from the nephrographic phase, the attenuation, image noise, SNR and subjective lesion visibility of the tumours and renal arteries were evaluated. For the tumours, significant differences were not observed in attenuation, noise or SNR between TNC and VNC images (p > 0.05). For the abdominal organs and tissues, except for fat, the difference in attenuation was 100% within 15 HU and 96.78% within 10 HU. The subjective image quality of TNC and VNC images was equivalent (p > 0.05). The attenuation of lesions in 40 keV VMIs and renal arteries in 60 keV VMIs were similar to those in the corticomedullary images (p > 0.05). The subjective lesion visibility in low keV VMIs is slightly lower than that in the corticomedullary images (p < 0.05). Using VNC and VMIs instead of TNC and corticomedullary phase images could decrease the radiation dose by 50.5%.

Conclusion
VNC images and VMIs acquired from DL-CT can maintain good image quality and decrease the radiation dose for diagnosis of RCC.
Antineutrophil cytoplasmic antibody-associated vasculitis in presence of positive antiphospholipid antibody: a case report
Authors: Akhlaghi Kalahroodi Maassoumeh , Loghman Maryam , Ramezanpoor Mahsa , Shahriarirad Reza , Rahmanian Ehsan 
Published: January 2022

Abstract
Background
Antineutrophil cytoplasmic antibody-associated vasculitis is dominated by inflammatory occlusion of small vessels, causing tissue ischemia in various organs. This disorder has rarely been associated with vasculopathy, such as antiphospholipid syndrome.

Case presentation
We report a case of a 48-year-old Persian male presenting with distal digital gangrene along with inflammatory arthralgia. High titers of anti-proteinase 3 and antiphospholipid antibodies (anticardiolipin antibody) were detected in laboratory evaluation. Therefore, a diagnosis of antineutrophil cytoplasmic antibody-associated vasculitis and antiphospholipid syndrome was made and treated with anticoagulant along with monthly pulses of cyclophosphamide and a daily dose of 1 mg/kg prednisolone.

Conclusion
Our case, along with other reports, illustrates that these two entities can coexist. Therefore, monitoring antiphospholipid antibodies in patients with antineutrophil cytoplasmic antibody-associated vasculitis with or without clinical evidence of any thrombosis and ruling out thrombosis in cases that do not respond to proper treatment of vasculitis may be relevant to prevent irreversible or fatal organ damage.