bluuebunny/crossref_metadata_2025_split huggingface dataset:
Paediatric focal nodular hyperplasia: A case study of typical contrast-enhanced ultrasound findings with quantitative analysis and correlated with magnetic resonance imaging
Authors: Panayiotou Andreas , Rafailidis Vasileios , Deganello Annamaria , Sellars Maria , Sidhu Paul S 
Published: August 2020

Introduction Focal nodular hyperplasia, a benign liver tumour, is the second most common focal benign liver lesion, after a cavernous haemangioma. Contrast-enhanced ultrasound is used increasingly for the diagnostic work up and follow-up of focal liver lesions in adults, but is particularly valuable in the paediatric population, with the ability to reduce radiation and the nephrotoxic contrast agents used in computed tomography or magnetic resonance imaging. Confident recognition of focal nodular hyperplasia is important; it is benign, usually asymptomatic, of no clinical significance, of no clinical consequence or malignant potential. We present a case of focal nodular hyperplasia of the liver with its characteristic findings on conventional ultrasound, contrast-enhanced ultrasound with quantitative analysis and correlated with magnetic resonance imaging. Case presentation: A 15-year-old female with right upper quadrant abdominal pain was referred for liver ultrasound. A focal liver lesion was detected on B-mode ultrasound examination, and colour Doppler demonstrated no specific features. Contrast-enhanced ultrasound examination demonstrated early arterial enhancement, with a characteristic spoke-wheel pattern, centrifugal uniform filling of the lesion on the late arterial phase and sustained enhancement on the portal venous phase. Quantitative contrast-enhanced ultrasound has been performed, showing a typical curve of enhancement, as well as characteristic parametric images, supporting the interpretation of contrast-enhanced ultrasound and assisting the diagnosis. Magnetic resonance imaging demonstrated a central T2 hyperintense scar and similar enhancement characteristics as contrast-enhanced ultrasound on T1 gadolinium-enhanced sequences. Conclusion Contrast-enhanced ultrasound is a useful technique for the differentiation of benign from malignant liver lesions and has the potential to establish the diagnosis of focal nodular hyperplasia, based on the enhancement pattern, which is similar to that observed on magnetic resonance imaging but can be better appreciated with superior temporal, contrast and spatial resolution of contrast-enhanced ultrasound.
Cognitive behavioral therapy in 22q11.2 deletion syndrome: A case study of two young adults with an anxiety disorder
Authors: Buijs Petra CM , Bassett Anne S , Gold David A , Boot Erik 
Published: August 2020

Background: The prevalence of anxiety disorders is high in 22q11.2 deletion syndrome (22q11.2DS), an under-recognized multisystem condition. Prominent features include an array of somatic, cognitive, and neuropsychiatric disorders. This case study reports for the first time on the application of individual cognitive behavioral therapy in 22q11.2DS. Method: Two young adults with 22q11.2DS and an anxiety disorder received cognitive behavioral therapy based on standard protocols. Feasibility and efficacy were assessed through clinical interviews, clinical observations by the therapist, and questionnaires. Results: Both participants were engaged in the therapy and showed understanding of basic cognitive behavioral therapy principles. However, they did not show a clear clinical improvement. Adjustments to the protocol were required, including increased flexibility and a proactive approach by the therapist, additional time per session, written information, and significant involvement of the family and multidisciplinary team. Conclusions: Our findings may help identify required adaptations to cognitive behavioral therapy protocols for this and similar genetic conditions.
C3, C5a and anti-acetylcholine receptor antibody as severity biomarkers in myasthenia gravis
Authors: Aguirre Florencia , Manin Analisa , Fernandez Victoria C. , Justo Mariano E. , Leoni Juliana , Paz Mariela L. , Villa Andres M. 
Published: August 2020

Background: Although the pathogenesis of myasthenia gravis (MG) is well known, prognostic markers are not yet available. We assessed the utility of anti-acetylcholine receptor (AChR) antibody (AChR-ab) titer and concentration of C3, C4, and C5a as potential severity biomarkers in MG. Methods: Levels of C3, C4, C5a, and AChR-ab were measured in 60 AChR-ab-positive patients with MG. Their relationship with clinical severity was analyzed using the activities of daily living (ADL) and MG composite (MGC) scales. Results: AChR-ab titer correlated with severity of MG according to ADL ( p = 0.002) and MGC scales ( p = 0.001). When patients were classified according to disease duration, a statistically significant correlation between AChR-ab titer and clinical severity was only found in the subgroup of patients with fewer than 5 years from symptoms onset. C5a levels showed a positive correlation with MG severity according to the ADL scale ( p = 0.041; τb = 0.18), although C5a levels were not different from the control group. Discussion: AChR-ab titers and C5a levels could potentially be considered markers of severity in patients with MG.
Healthcare Professional Perceptions of Blood Glucose Meter Features That Support Achievement of Self-Management Goals Recommended by Clinical Practice Guidelines
Authors: Greenwood Deborah A. , Grady Mike 
Published: August 2020

Background: Blood glucose meters remain an effective tool for blood glucose monitoring (BGM) but not all meters provide the same level of insight beyond the numerical glucose result. Objective: To investigate healthcare professional (HCP) perceptions of four meters and how these meters support the achievement of self-management goals recommended by diabetes clinical practice guidelines. Methods: Three hundred and fifty-three HCPs from five countries reviewed the features and benefits of four meters using interactive webpages and then responded to statements about the utility of each meter and ranked each meter in terms of clinical value. Results: Meter D ranked significantly higher in terms of clinical utility for all 13 guideline questions (70%-84%, P < .05) compared to other meters. Endocrinologists (69%-85%), primary care physicians (PCP; 63%-80%), and diabetes nurses (DN; 80%-89%) consistently ranked meter D highest for all guideline questions. DNs ranked selected questions significantly higher compared to PCPs (8 of 13) or endocrinologists (3 of 13; P < .05). Meter D achieved strong endorsement from HCPs in France and Germany, followed by the United States and Canada, with comparatively lower responses from Italian HCPs ( P < 0.05). With respect to self-management, 80% of HCPs selected meter D as their first choice for patients with type 1 diabetes to help patients improve diabetes management or understand their numbers to help them stay in range. Conclusions: HCPs had strong preference for a meter providing additional insights, messages, and guidance direct to the patient to support achievement of self-management goals recommended by diabetes clinical practice guidelines.
Smoking duration and intensity associated with tumour aggressiveness in patients with urothelial carcinoma of the bladder: A correlation study
Authors: Pramod Sawkar Vijay , Safriadi Ferry , Hernowo Bethy S. , Dwiyana Reiva Farah , Bonar Ananta 
Published: August 2020

Introduction: Smoking is well recognized as the most important risk factor for the malignancy of bladder. Cigarette smoking is associated with a higher risk of bladder cancer. The influence of various parameters of smoking history was still unclear. The purpose of this study was to examine the relationship between smoking intensity and clinico-pathological features of bladder cancer. Methods: This was a retrospective study with non-probability consecutive sampling. All patients with urothelial cell carcinoma of the bladder in our hospital during 2009–2018 were included in the present study. The data were collected from medical records and then divided into three groups according to the intensity of smoking. The data were analysed, with statistical significance determined using Spearman’s rank correlation coefficient. Result: The data from a total of 260 urothelial bladder cancer patients were collected between 2009 and 2018. Based on statistical testing, it was found that there was a strong correlation between smoking intensity and local staging (T; rs=0.827), with a greater tendency to develop a larger tumour growth as the smoking intensity increased. There was also a weak correlation between smoke intensity and grading ( rs=0.139). Meanwhile, no correlation was found between smoking intensity and the incidence of regional (N; rs=0.119) and distant lymph node metastasis (M; rs=0.239). Smoke status and intensity had a weak correlation with lesion ( rs=0.163 and 0.206, respectively). The type of cigarette and local staging had a small correlation ( rs=0.166). Conclusion: This study demonstrated that smoking intensity was significantly correlated only with primary tumour progression and grading, but not with the progression of regional and distant metastasis. There was a weak correlation between smoking status and intensity with the type of lesion, whether a solitary nodule or multiple nodules. This study also demonstrated a small correlation between the type of cigarette and local staging. Level of evidence: 3
Postoperative Pulmonary Complications in Complex Pediatric and Adult Spine Deformity: A Retrospective Review of Consecutive Patients Treated at a Single Site in West Africa
Authors: Wulff Irene , Duah Henry Ofori , Osei Tutu Henry , Ofori-Amankwah Gerhard , Yankey Kwadwo Poku , Owiredu Mabel Adobea , Bidemi Yahaya Halima , Akoto Harry , Oteng-Yeboah Audrey , Boachie-Adjei Oheneba ,   FOCOS Spine Research Group
Published: August 2020

Study Design: Retrospective review of consecutive series. Objectives: This study sought to assess the incidence, risk factors, and outcomes of pulmonary complication following complex spine deformity surgery in a low-resourced setting in West Africa. Methods: Data of 276 complex spine deformity patients aged 3 to 25 years who were treated consecutively was retrospectively reviewed. Patients were categorized into 2 groups during data analysis based on pulmonary complication status: group 1: yes versus group 2: no. Comparative descriptive and inferential analysis were performed to compare the 2 groups. Results: The incidence of pulmonary complication was 17/276 (6.1%) in group 1. A total of 259 patients had no events (group 2). There were 8 males and 9 females in group 1 versus 100 males and 159 females in group 2. Body mass index was similar in both groups (17.2 vs 18.4 kg/m2, P = .15). Average values (group 1 vs group 2, respectively) were as follows: preoperative sagittal Cobb angle (90.6° vs 88.7°, P = .87.), coronal Cobb angle (95° vs 88.5°, P = .43), preoperative forced vital capacity (45.3% vs 62.0%, P = .02), preoperative FEV1 (forced expiratory volume in 1 second) (41.9% vs 63.1%, P < .001). Estimated blood loss, operating room time, and surgery levels were similar in both groups. Thoracoplasty and spinal osteotomies were performed at similar rates in both groups, except for Smith-Peterson osteotomy. Multivariate logistic regression showed that every unit increase in preoperative FEV1 (%) decreases the odds of pulmonary complication by 9% (OR = 0.91, 95% CI 0.84-0.98, P = .013). Conclusion: The observed 6.1% incidence of pulmonary complications is comparable to reported series. Preoperative FEV1 was an independent predictor of pulmonary complications. The observed case fatality rate following pulmonary complications (17%) highlights the complexity of cases in underserved regions and the need for thorough preoperative evaluation to identify high-risk patients.
Kindlin-3 recruitment to the plasma membrane precedes high-affinity β2-integrin and neutrophil arrest from rolling
Authors: Wen Lai , Marki Alex , Roy Payel , McArdle Sara , Sun Hao , Fan Zhichao , Gingras Alexandre R. , Ginsberg Mark H. , Ley Klaus 
Published: August 2020

AbstractIntegrin-mediated neutrophil adhesion starts by arrest from rolling. Activation of integrins involves conformational changes from an inactive, bent conformation to an extended conformation (E+) with high affinity for ligand binding (H+). The cytoplasmic protein kindlin-3 is necessary for leukocyte adhesion; mutations of kindlin-3 cause leukocyte adhesion deficiency type 3. Kindlin-3 binds the β2-integrin cytoplasmic tail at a site distinct from talin-1, but the molecular mechanism by which kindlin-3 activates β2-integrins is unknown. In this study, we measured the spatiotemporal dynamics of kindlin-3 and β2-integrin conformation changes during neutrophil and HL-60 cell rolling and arrest under flow. Using high-resolution quantitative dynamic footprinting microscopy and kindlin-3–fluorescent protein (FP) fusion proteins, we found that kindlin-3 was recruited to the plasma membrane in response to interleukin-8 (IL-8) before induction of the H+ β2-integrin conformation. Intravital imaging revealed that EGFP-kindlin-3–reconstituted, kindlin-3–knockout neutrophils arrest in vivo in response to CXCL1. EGFP-kindlin-3 in primary mouse neutrophils was also recruited to the plasma membrane before arrest. Upon arrest, we found small clusters of high-affinity β2-integrin molecules within large areas of membrane-proximal kindlin-3 FP. Deletion of kindlin-3 or its pleckstrin homology (PH) domain in neutrophil-like HL-60 cells completely abolished H+ β2-integrin induction. IL-8 also triggered recruitment of the isolated kindlin-3 PH domain to the plasma membrane before arrest. In summary, we showed that the kindlin-3 PH domain is necessary for recruitment to the plasma membrane, where full-length kindlin-3 is indispensable for the induction of high-affinity β2-integrin.
Prospective phase 2 trial of ixazomib after nonmyeloablative haploidentical peripheral blood stem cell transplant
Authors: Solomon Scott R. , Solh Melhem , Zhang Xu , Brown Stacey , Jackson Katelin C. , Holland H. Kent , Morris Lawrence E. , Bashey Asad 
Published: August 2020

Abstract
Proteasome inhibition results in extensive immunomodulatory effects that augment natural killer cell cytotoxicity and inhibit aspects of T-cell, B-cell, and dendritic cell function. We performed a phase 2 study that examined the effects of ixazomib for graft-versus-host disease (GVHD) prophylaxis (up to 12 cycles) with posttransplant cyclophosphamide and tacrolimus after standard nonmyeloablative haploidentical donor transplantation (HIDT). Ixazomib was started on day +5 (4 mg on days 1, 8, and 15 of a 28-day cycle), with dose reductions allowed in future cycles for toxicity. All patients received peripheral blood stem cells. Twenty-five patients were enrolled with a median age of 62 years (range, 35-77 years) who had acute leukemia (4), myelodysplastic syndrome (7), non-Hodgkin lymphoma/Hodgkin lymphoma/chronic lymphocytic leukemia (8), and myeloma (6). The hematopoietic cell transplant comorbidity index was ≥3 in 68% of the patients. After a median follow-up of 33.5 months, the cumulative incidence of relapse/progression at 1 year was 24% and 44% at 3 years, which failed to meet the statistically predefined goal of decreasing 1-year risk of relapse. Engraftment occurred in all patients with no secondary graft failure, and 3-year nonrelapse mortality (NRM) was 12%. Cumulative incidence of grade 3 to 4 acute GVHD was 8%, whereas moderate-to-severe chronic GVHD occurred in 19%. Nineteen patients survive with an estimated 1-year overall survival (OS) of 84% and 3-year OS of 74%. Hematologic and cutaneous toxicities were common but manageable. The substitution of ixazomib for mycophenolate mofetil (MMF) post-HIDT results in reliable engraftment, comparable rates of clinically significant GVHD, relapse and NRM, and favorable OS. This trial was registered at www.clinicaltrials.gov as # NCT02169791.
Seascape genomics reveals population isolation in the reef-building honeycomb worm, Sabellaria alveolata (L.)
Authors: Muir Anna P. , Dubois Stanislas F. , Ross Rebecca E. , Firth Louise B. , Knights Antony M. , Lima Fernando P. , Seabra Rui , Corre Erwan , Le Corguillé Gildas , Nunes Flavia L. D. 
Published: August 2020

AbstractBackgroundUnder the threat of climate change populations can disperse, acclimatise or evolve in order to avoid fitness loss. In light of this, it is important to understand neutral gene flow patterns as a measure of dispersal potential, but also adaptive genetic variation as a measure of evolutionary potential. In order to assess genetic variation and how this relates to environment in the honeycomb worm (Sabellaria alveolata(L.)), a reef-building polychaete that supports high biodiversity, we carried out RAD sequencing using individuals from along its complete latitudinal range. Patterns of neutral population genetic structure were compared to larval dispersal as predicted by ocean circulation modelling, and outlier analyses and genotype-environment association tests were used to attempt to identify loci under selection in relation to local temperature data.ResultsWe genotyped 482 filtered SNPs, from 68 individuals across nine sites, 27 of which were identified as outliers using BAYESCAN and ARLEQUIN. All outlier loci were potentially under balancing selection, despite previous evidence of local adaptation in the system. Limited gene flow was observed among reef-sites (FST = 0.28 ± 0.10), in line with the low dispersal potential identified by the larval dispersal models. The North Atlantic reef emerged as a distinct population and this was linked to high local larval retention and the effect of the North Atlantic Current on dispersal.ConclusionsAs an isolated population, with limited potential for natural genetic or demographic augmentation from other reefs, the North Atlantic site warrants conservation attention in order to preserve not only this species, but above all the crucial functional ecological roles that are associated with their bioconstructions. Our study highlights the utility of using seascape genomics to identify populations of conservation concern.
Subcutaneous immunoglobulin in primary immunodeficiency – impact of training and infusion characteristics on patient-reported outcomes
Authors: Mallick R. , Henderson T. , Lahue B. J. , Kafal A. , Bassett P. , Scalchunes C. 
Published: August 2020

Abstract
Background
Subcutaneous immunoglobulin (SCIG) is increasingly utilized in primary immunodeficiency (PI). Understanding factors associated with treatment experience and satisfaction can optimize patient outcomes. We analyzed Immune Deficiency Foundation (IDF) survey data to evaluate patient-reported outcomes (PROs) in relation to SCIG training and infusion characteristics. Respondents’ PRO scores were rank ordered into ‘best’, ‘intermediate’, and ‘worst’ tertiles. Predicted probabilities of being in the best tertile with any combination of characteristics were generated for each PRO.

Results
In 366 SCIG respondents, higher odds of being in the best PRO tertile were driven by favorable training characteristics (particularly, higher confidence post-training and no training barriers) and efficient infusions (infusion preparation ≤20 min and actual infusion < 2 h). Age (≤17 years old) and treatment experience (> 2 years) increased the odds of being in the best tertiles. Compared with the least favorable training/infusion characteristics, those with the most favorable training/infusion characteristics had higher predicted probabilities of being in the best tertiles: TSQM side effects, 59% vs 4%; convenience, 52% vs 4%; effectiveness, 27% vs 13%; global, 26% vs 3%; PROMIS Fatigue, 44% vs 18%.

Conclusions
Increased experience with SCIG consistently improved PROs, but our findings predicted that enhanced training and infusion characteristics improve patient treatment satisfaction beyond that achieved by experience alone.
Metagenomics revealing molecular profiling of community structure and metabolic pathways in natural hot springs of the Sikkim Himalaya
Authors: Sharma Nitish , Kumar Jitesh , Abedin Md. Minhajul , Sahoo Dinabandhu , Pandey Ashok , Rai Amit K. , Singh Sudhir P. 
Published: August 2020

Abstract
Background
Himalaya is an ecologically pristine environment. The geo-tectonic activities have shaped various environmental niches with diverse microbial populations throughout the Himalayan biosphere region. Albeit, limited information is available in terms of molecular insights into the microbiome, including the uncultured microbes, of the Himalayan habitat. Hence, a vast majority of genomic resources are still under-explored from this region. Metagenome analysis has simplified the extensive in-depth exploration of diverse habitats. In the present study, the culture-independent whole metagenome sequencing methodology was employed for microbial diversity exploration and identification of genes involved in various metabolic pathways in two geothermal springs located at different altitudes in the Sikkim Himalaya.

Results
The two hot springs, Polok and Reshi, have distinct abiotic conditions. The average temperature of Polok and Reshi was recorded to be 62 °C and 43 °C, respectively. Both the aquatic habitats have alkaline geochemistry with pH in the range of 7–8. Community profile analysis revealed genomic evidence of plentiful bacteria, with a minute fraction of the archaeal population in hot water reservoirs of Polok and Reshi hot spring. Mesophilic microbes belonging to Proteobacteria and Firmicutes phyla were predominant at both the sites. Polok exhibited an extravagant representation of Chloroflexi, Deinococcus-Thermus, Aquificae, and Thermotogae. Metabolic potential analysis depicted orthologous genes associated with sulfur, nitrogen, and methane metabolism, contributed by the microflora in the hydrothermal system. The genomic information of many novel carbohydrate-transforming enzymes was deciphered in the metagenomic description. Further, the genomic capacity of antimicrobial biomolecules and antibiotic resistance were discerned.

Conclusion
The study provided comprehensive molecular information about the microbial treasury as well as the metabolic features of the two geothermal sites. The thermal aquatic niches were found a potential bioresource of biocatalyst systems for biomass-processing. Overall, this study provides the whole metagenome based insights into the taxonomic and functional profiles of Polok and Reshi hot springs of the Sikkim Himalaya. The study generated a wealth of genomic data that can be explored for the discovery and characterization of novel genes encoding proteins of industrial importance.