bluuebunny/crossref_metadata_2025_split huggingface dataset:
Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis
Authors: Benvenuto Simone , Gortani Giulia , Bussani Rossana , Poropat Federico , Murru Flora Maria , Carrozzi Marco , Tommasini Alberto , Taddio Andrea 
Published: July 2021

Abstract
Background
Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child.

Case presentation
An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed.
Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after.

Conclusions
Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
Authors: Serra Gregorio , Memo Luigi , Antona Vincenzo , Corsello Giovanni , Favero Valentina , Lago Paola , Giuffrè Mario 
Published: July 2021

Abstract
Introduction
In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified.

Patients’ presentation
We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations.

Conclusions
Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.
Cauchy type means for some generalized convex functions
Authors: Mehreen Naila , Anwar Matloob 
Published: July 2021

AbstractIn this paper, we establish Jensen’s inequality for s-convex functions in the first sense. By using Jensen’s inequalities, we obtain some Cauchy type means for p-convex and s-convex functions in the first sense. Also, by using Hermite–Hadamard inequalities for the respective generalized convex functions, we find new generalized Cauchy type means.
Optimization of an analytical HPLC-DAD method for detecting hydroxycinnamic acid derivatives from mixtures of Saussurea grandifolia and Taraxacum coreanum
Authors: Lee Hak-Dong , Paje Leo Adrianne , Lee Sullim , Kang Ki Sung , Hong Kyungki , Kwon Hyukjin , Lee Sanghyun 
Published: July 2021

AbstractAn analytical method was established to identify and quantify hydroxycinnamic acids, such as 1,5-dicaffeoylquinic acid (DCQA) and chicoric acid (CA), in mixtures of Saussurea grandifolia and Taraxacum coreanum (MST) by using reverse-phase high-performance liquid chromatography coupled with diode array detector (HPLC-DAD). Analyses were carried out by using an INNO C18 column with a gradient elution system, and different parameters were used to validate our optimized method. Results demonstrated limits of detection and quantification of 5.46 × 10–3 and 16.54 × 10–3 mg/mL for DCQA and 0.37 × 10–3 and 1.14 × 10–3 mg/mL for CA, respectively. The calibration curves for DCQA and CA showed good linearity over the concentration ranges of 0.025–0.4 and 0.00625–0.1 mg/mL, respectively, and both exhibited r2 = 1.0000. In the accuracy test, high recovery rates were obtained ranging from 101.16–104.18% for DCQA and 97.55–108.49% for CA, while the precision values were ≤ 1.00% for DCQA and ≤ 1.21% for CA. The values obtained from our analyses support the use of this analytical method for the accurate identification and quantification of DCQA and CA from MST. Our methodology could be used further to determine the content of hydroxycinnamic acid derivatives in routine analyses and large-scale extraction processes.
Psychological therapy for mood instability within bipolar spectrum disorder: a randomised, controlled feasibility trial of a dialectical behaviour therapy-informed approach (the ThrIVe-B programme)
Authors: Wright Kim , Dodd Alyson L. , Warren Fiona C. , Medina-Lara Antonieta , Dunn Barnaby , Harvey Julie , Javaid Mahmood , Jones Steven H. , Owens Christabel , Taylor Rod S. , Duncan Deborah , Newbold Alexandra , Norman Shelley , Warner Faith , Lynch Thomas R. 
Published: July 2021

AbstractBackgroundA subgroup of those with bipolar spectrum disorders experience ongoing mood fluctuations outside of full episodes. We conducted a randomised, controlled feasibility study of a Dialectical Behavioural Therapy-informed approach for bipolar mood fluctuations (Therapy for Inter-episode mood Variability in Bipolar [ThrIVe-B]). Our study aimed to examine the feasibility and acceptability of a future definitive trial evaluating the clinical and cost effectiveness of the ThrIVe-B programme. Participants were required to meet diagnostic criteria for a bipolar spectrum disorder and report frequent mood swings outside of acute episodes. They were randomised to treatment as usual (control arm) or the ThrIVe-B intervention plus treatment as usual (intervention arm). Follow-up points were at 3, 6, 9 and 15 months after baseline, with 9 months as the primary end point. To evaluate feasibility and acceptability we examined recruitment and retention rates, completion rates for study measures, adverse events and feedback from participants on their experience of study participation and therapy.ResultsOf the target 48 participants, 43 were recruited (22 in the intervention arm; 21 in the control arm), with a recruitment rate of 3.9 participants per month. At 9 months 74% of participants engaged in research follow-up assessment, exceeding the pre-specified criterion of 60%. There were no serious concerns about the safety of the research procedures or the intervention. On one of the four candidate primary outcome measures, the 95% CI for the between-group mean difference score excluded the null effect and included the minimal clinically important difference, favouring the intervention arm, whilst on no measure was there evidence of deterioration in the intervention arm relative to the control arm. Attendance of the intervention (50% attending at least half of the mandatory sessions) was below the pre-specified continuation criterion of 60%, and qualitative feedback from participants indicated areas that may have hampered or facilitated engagement.ConclusionsIt is broadly feasible to conduct a trial of this design within the population of people with frequent bipolar mood swings. Changes should be made to the therapy to increase uptake, such as simplifying content and considering individual rather than group delivery.Trial registrationISRCTN: ISRCTN54234300. Registered 14th July 2017,http://www.isrctn.com/ISRCTN54234300
The relevance of science-policy-practice dialogue. Exploring the urban climate resilience governance in Italy
Authors: Caldarice Ombretta , Tollin Nicola , Pizzorni Maria 
Published: July 2021

AbstractThe concept of resilience has been developed for over 40 years in different disciplines. The academic discussion on defining resilience is thriving to create interdisciplinary understandings and meanings. Simultaneously, resilience has firmly entered into planning practice to address vulnerabilities and cities' exposure facing to present and future hazards particularly related to climate change effects. In the last twenty years, a growing number of cities are adopting local climate actions, and urban resilience is also gradually a crucial part of international and national policies worldwide. Despite the increasing attention to urban resilience, its implementation at the local scale and the required increasing ambition are still lagging, also due to a lack of dialogue among researchers (the scientific level), policy-makers (the normative level) and practitioners (the operational level). Following the 2018 CitiesIPCC Research and Action Agenda recommendations, this paper contributes to improving understanding barriers, opportunities, and needs for science-policy-practice dialogue for urban climate resilience. The paper analyses the urban climate resilient strategiesstrategies of the Italian metropolitan cities, concluding that a science-policy-practice dialogue is lacking in implementing evidence-based climate change resilience policies and actions actions at the local scale. Starting from the Italian case study, the paper suggests an iterative process to unlock the science-policy-practice dialogue for contributing to operationalise urban climate resilience fostering thanks to a multiscalar governance approach.
Designing and validating an evaluation inventory for assessing teachers’ professional accountability
Authors: Rahmatollahi Maryam , Mohamadi Zenouzagh Zohre 
Published: July 2021

AbstractResearch has already established the boundless potential of teachers in assisting effective learning processes, and there is still a need to expand research to illustrate interrelation and connection between the construct of teachers’ professional accountability which moderates and directs student learning. To this end, a comprehensive review of the literature was conducted by the researchers to explore and extract relevant theoretical constructs to teacher accountability. A literature review was followed by structured interviews with 20 administrators, teachers, students, and parents to record perceived concepts related to teacher accountability. Content analysis of recorded interviews and thematic network analysis of literature resulted in a 30-item Likert scale. The researcher-made questionnaire was subject to reliability and validity issues. Thus, in the second phase, the questionnaire was piloted with 142 male and female EFL in-service teachers selected on the basis of the convenient sampling method. Factor analysis on data collected through this reduced the items to 29 and indicated that data on teacher accountability loaded on five components including accountability towards students (N: 7 items), parents (N: 5 items), school leadership (N: 5 items), society (N: 7 items), and the profession (N: 5 items). The results also indicated that the questionnaire enjoys sound psychometric properties of reliability (α: 0.88 ˂0.5). The upshots of this study could provide a better understanding of the concept and lead teachers to be more coherent and accountable.
Effects of polymorphic cytochrome P450 2A6 genotypes on chemoprevention against colorectal tumors in single Japanese cohort using daily low-dose aspirin: insights into future personalized treatments
Authors: Yamazaki Hiroshi , Shimizu Makiko , Otani Takahiro , Mizugaki Ami , Mure Kanae , Suzuki Sadao , Ishikawa Hideki 
Published: July 2021

Abstract
Background
A chemopreventive effect of low-dose aspirin against colorectal tumors was previously found in participants of two Japanese multicenter, double-blind, randomized, placebo-controlled clinical trials investigating the effects of daily aspirin (100 mg/day) for 0.7–2 years on tumor recurrence in colorectal cancer patients whose tumors were excised endoscopically.

Methods
In the current study, chemopreventive data from single-center subsets having daily aspirin (100 mg/day) were reanalyzed with respect to variations in polymorphic cytochrome P450 2A6 (CYP2A6). From the J-CAPP study, 56 of 311 participants (47 men, 9 women; excluding patients with familial adenomatous polyposis) were genotyped for CYP2A6*1, *4 (whole-gene deletion), *7 (amino acid substitution), and *9 (upstream mutation), and from the J-FAPP IV study, 81 of 102 participants (43 men, 38 women; including patients with familial adenomatous polyposis) were also genotyped.

Results
The chemopreventive effects of daily aspirin were found to be inversely dependent on the predicted enzyme activity of the CYP2A6 phenotype [based on normal genotypes (CYP2A6*1/*1,*7,*9) and impaired genotypes (CYP2A6*4,*7,*9/*4,*7,*9 and CYP2A6*1/*4)] among a nonsmoker Japanese cohort without familial adenomatous polyposis.

Conclusions
The CYP2A6 wild-type allele could be a candidate biomarker for reduced chemopreventive effects of daily aspirin in a population with wide-ranging CYP2A6 phenotypes with a high frequency of impaired activities resulting from variations and whole-gene deletions. The CYP2A6 genotypes could be applicable to future personalized treatments for colorectal tumor chemoprevention with daily aspirin.
Utility of 24-hour ambulatory blood pressure monitoring in potential living kidney donors
Authors: Aslam Nabeel , Memon Sobia H. , Wadei Hani , Lesser Elizabeth R. , Niazi Shehzad K. 
Published: July 2021

Abstract
Introduction
Hypertension (HTN) is a risk factor for cardiovascular disease; therefore, it is imperative to risk stratify potential kidney donors during evaluation. Clinic blood pressure (CBP) measurement is inaccurate in assessing presence or absence of HTN. There is paucity of data about utility of 24-h ambulatory blood pressure monitoring (ABPM) during kidney donor evaluation.

Methods
24-h ABPM is performed on all kidney donors at Mayo Clinic Florida. We conducted retrospective review of 264 consecutive potential kidney donors from 1/1/2012 to 12/31/2017. Demographic, comorbid conditions, laboratory results and 24-h ABPM data were collected. Subjects were divided into two groups: Group1: Subjects with no prior history of HTN and new diagnosis of HTN using 24-h ABPM; Group 2: Subjects with no prior history of hypertension and normal BP on 24-h ABPM.

Results
Baseline demographic included mean age 46.40 years, 39% males, 78.4% Caucasians, and mean BMI was 26.94. Twenty one subjects (8.0%) had prior diagnosis of HTN. Among 243 subjects without prior HTN, 62 (25.5%) were newly diagnosed with HTN using 24-h ABPM. CBP was high only in 27 out of 62 (43.6%) of newly diagnosed HTN subjects. Thirty-five subjects (14.4%) had masked HTN and 14 subjects (5.8%) had white-coat HTN. Newly diagnosed hypertensive subjects were more likely to be males as compared to Group 2 (53.2% vs 34.3% P = 0.008). There was a trend of more non-Caucasians subjects (30.6% vs 19.9% P = 0.08) and more active smokers (17.7% vs 11.6%, P = 0.054) in Group1 as compared to Group 2. Only 17 (27.4%) out of 62 newly diagnosed hypertensive subjects were deemed suitable for kidney donation as compared to 105 (58.0%) out of 181 normotensive subjects (P < 0.001).

Conclusion
In our cohort, use of ABPM resulted in new diagnosis of HTN in 1 out of 4 potential kidney donors. Newly diagnosed HTN was more common in men, those with non-Caucasian race, and in active smokers. There was a significantly reduced acceptance rate for kidney donation among newly diagnosed HTN subjects. Further studies are needed to determine the value of 24-h ABPM among these high risk groups.
Multiomic technologies for analyses of inborn errors of immunity: from snapshot of the average cell to dynamic temporal picture at single-cell resolution
Authors: Kawashima Yusuke , Nishikomori Ryuta , Ohara Osamu 
Published: July 2021

AbstractAdvances in DNA sequencing technology have significantly impacted human genetics; they have enabled the analysis of genetic causes of rare diseases, which are usually pathogenic variants in a single gene at the nucleotide sequence level. However, since the quantity of data regarding the relationship between genotype and phenotype is insufficient to diagnose some rare immune diseases definitively, genetic information alone cannot help obtain a mechanistic understanding of the disease etiology. For such cases, exploring the molecular phenotype using multiomic analyses could be the approach of choice. In this review, we first overview current technologies for multiomic analysis, particularly focusing on RNA and protein profiling of bulk cell ensembles. We then discuss the measurement modality and granularity issue because it is critical to design multiomic experiments properly. Next, we illustrate the importance of bioimaging by describing our experience with the analysis of an autoinflammatory disease, cryopyrin-associated periodic fever syndrome, which could be caused by low-frequency somatic mosaicism and cannot be well characterized only by multiomic snapshot analyses of an ensemble of many immune cells. We found it powerful to complement the multiomic data with bioimaging data that can provide us with indispensable time-specific dynamic information of every single cell in the “immune cell society.” Because we now have many measurement tools in different modalities and granularity to tackle the etiology of rare hereditary immune diseases, we might gain a deeper understanding of the pathogenic mechanisms of these diseases by taking full advantage of these tools in an integrated manner.
Metagenomics analysis revealed the distinctive ruminal microbiome and resistive profiles in dairy buffaloes
Authors: Sun Hui-Zeng , Peng Ke-Lan , Xue Ming-Yuan , Liu Jian-Xin 
Published: July 2021

Abstract
Background
Antimicrobial resistance poses super challenges in both human health and livestock production. Rumen microbiota is a large reservoir of antibiotic resistance genes (ARGs), which show significant varations in different host species and lifestyles. To compare the microbiome and resistome between dairy cows and dairy buffaloes, the microbial composition, functions and harbored ARGs of rumen microbiota were explored between 16 dairy cows (3.93 ± 1.34 years old) and 15 dairy buffaloes (4.80 ± 3.49 years old) using metagenomics.

Results
Dairy buffaloes showed significantly different bacterial species (LDA > 3.5 & P < 0.01), enriched KEGG pathways and CAZymes encoded genes (FDR < 0.01 & Fold Change > 2) in the rumen compared with dairy cows. Distinct resistive profiles were identified between dairy cows and dairy buffaloes. Among the total 505 ARGs discovered in the resistome of dairy cows and dairy buffaloes, 18 ARGs conferring resistance to 16 antibiotic classes were uniquely detected in dairy buffaloes. Gene tcmA (resistance to tetracenomycin C) presented high prevalence and age effect in dairy buffaloes, and was also highly positively correlated with 93 co-expressed ARGs in the rumen (R = 0.98 & P = 5E-11). In addition, 44 bacterial species under Lactobacillus genus were found to be associated with tcmA (R > 0.95 & P < 0.001). L. amylovorus and L. acidophilus showed greatest potential of harboring tcmA based on co-occurrence analysis and tcmA-containing contigs taxonomic alignment.

Conclusions
The current study revealed distinctive microbiome and unique ARGs in dairy buffaloes compared to dairy cattle. Our results provide novel understanding on the microbiome and resistome of dairy buffaloes, the unique ARGs and associated bacteria will help develop strategies to prevent the transmission of ARGs.
Tocilizumab in management of refractory juvenile idiopathic arthritis, 10 years of experience at tertiary university hospital
Authors: Muzaffer Mohammed A. , Abdelgalil Abobakr A. 
Published: July 2021

Abstract
Background
Juvenile idiopathic arthritis (JIA) is the most prevalent pediatric rheumatic disorder. Progress in modalities of therapy improves the disease outcome. We aimed to determine the efficacy and safety of tocilizumab (TCZ) in the management of systemic (sJIA) and polyarticular (pJIA) in children who are resistant to conventional as well as other biological therapies. In this retrospective study, we selected JIA patients according to the International League of Association for Rheumatology (ILAR) criteria and were treated with TCZ. Response to TCZ was assessed using Juvenile Arthritis Disease Activity Score-10 (JADAS-10) and also outcomes were assessed according to the American College of Rheumatology (ACR) remission criteria. Safety of the drug was assessed by documenting possibly related adverse effects (AE). Statistical analysis using SPSS version 25 with statistical significance is considered if p ≤ 0.05. We included 16 JIA patients aged ≤ 18 years but 2 of them were excluded as they developed severe reaction during the TCZ 1st dose, so finally, 14 patients were included.

Results
The median age of our patients was 12 years. Of these 14 patients, 9 (64.3%) had sJIA and 5 (35.7%) had pJIA. TCZ use led to significant improvement in the JADAS-10 from mean 22.4 (± 7.9) when it was initially assessed and then 3, 6, 12, and 24 months after TCZ initiation with means 5.7 (± 3.9), 4.4 (± 3.7), 3.5 (± 3.1), and 2.7 (± 2.2), (P = 0.001, 0.001, 0.005, 0.012), respectively. Five patients exhibited TCZ possibly expected side effects. Neutropenia and infusion-related reactions were the most frequent AE.

Conclusions
Tocilizumab seems to be generally effective and safe drug in the management of sJIA and pJIA especially in cases refractory to conventional as well as other biologic agents.