bluuebunny/crossref_metadata_2025_split huggingface dataset:
COPD profiles and treatable traits using minimal resources: identification, decision tree and stability over time
Authors: Marques Alda , Souto-Miranda Sara , Machado Ana , Oliveira Ana , Jácome Cristina , Cruz Joana , Enes Vera , Afreixo Vera , Martins Vitória , Andrade Lília , Valente Carla , Ferreira Diva , Simão Paula , Brooks Dina , Tavares Ana Helena 
Published: February 2022

Abstract
Background and objective
Profiles of people with chronic obstructive pulmonary disease (COPD) often do not describe treatable traits, lack validation and/or their stability over time is unknown. We aimed to identify COPD profiles and their treatable traits based on simple and meaningful measures; to develop and validate a decision tree and to explore profile stability over time.

Methods
An observational, prospective study was conducted. Clinical characteristics, lung function, symptoms, impact of the disease (COPD Assessment Test—CAT), health-related quality of life, physical activity, lower-limb muscle strength and functional status were collected cross-sectionally and a subsample was followed-up monthly over six months. A principal component analysis and a clustering procedure with k-medoids were applied to identify profiles. A decision tree was developed and validated cross-sectionally. Stability was explored over time with the ratio between the number of timepoints that a participant was classified in the same profile and the total number of timepoints (i.e., 6).

Results
352 people with COPD (67.4 ± 9.9 years; 78.1% male; FEV1 = 56.2 ± 20.6% predicted) participated and 90 (67.6 ± 8.9 years; 85.6% male; FEV1 = 52.1 ± 19.9% predicted) were followed-up. Four profiles were identified with distinct treatable traits. The decision tree included CAT (< 18 or ≥ 18 points); age (< 65 or ≥ 65 years) and FEV1 (< 48 or ≥ 48% predicted) and had an agreement of 71.7% (Cohen’s Kappa = 0.62, p < 0.001) with the actual profiles. 48.9% of participants remained in the same profile whilst 51.1% moved between two (47.8%) or three (3.3%) profiles over time. Overall stability was 86.8 ± 15%.

Conclusion
Four profiles and treatable traits were identified with simple and meaningful measures possibly available in low-resource settings. A decision tree with three commonly used variables in the routine assessment of people with COPD is now available for quick allocation to the identified profiles in clinical practice. Profiles and treatable traits may change over time in people with COPD hence, regular assessments to deliver goal-targeted personalised treatments are needed.
The evolution of clot strength in critically ill COVID-19 patients: a prospective observational thromboelastography study
Authors: Muzaffar Syed Nabeel , Siddiqui Suhail Sarwar , Chakraborty Nilanchal , Azim Afzal 
Published: February 2022

AbstractThe authors have done commendable work in exploring the utility of a comprehensive viscoelastic test for assessment of the coagulation cascade in Coronavirus disease 2019 (COVID-19) patients. This article published in your esteemed journal in November 2021 “The evolution of clot strength in critically-ill COVID-19 patients: a prospective observational thromboelastography study” found hypercoagulability in most of the patients at Intensive Care Unit (ICU) admission and also noted a persistently increased fibrin contribution to clot strength. However, we would like to comment upon a few points which may be of importance to the readers.
A web-based prediction model for overall survival of elderly patients with early renal cell carcinoma: a population-based study
Authors: Wang Jinkui , Tang Jie , Chen Tiaoyao , Yue Song , Fu Wanting , Xie Zulong , Liu Xiaozhu 
Published: February 2022

Abstract
Background
The number of elderly patients with early renal cell carcinoma (RCC) is on the rise. However, there is still a lack of accurate prediction models for the prognosis of early RCC in elderly patients. It is necessary to establish a new nomogram to predict the prognosis of elderly patients with early RCC.

Methods
The data of patients aged above 65 years old with TNM stage I and II RCC were downloaded from the SEER database between 2010 and 2018. The patients from 2010 to 2017 were randomly assigned to the training cohort (n = 7233) and validation cohort (n = 3024). Patient data in 2018(n = 1360) was used for external validation. We used univariable and multivariable Cox regression model to evaluate independent prognostic factors and constructed a nomogram to predict the 1-, 3-, and 5-year overall survival (OS) rates of patients with early-stage RCC. Multiple parameters were used to validate the nomogram, including the consistency index (C-index), the calibration plots, the area under the receiver operator characteristics (ROC) curve, and the decision curve analysis (DCA).

Results
The study included a total of 11,617 elderly patients with early RCC. univariable and multivariable Cox regression analysis based on predictive variables such as age, sex, histologic type, Fuhrman grade, T stage, surgery type, tumors number, tumor size, and marriage were included to establish a nomogram. The C-index of the training cohort and validation cohort were 0.748 (95% CI: 0.760–0.736) and 0.744 (95% CI: 0.762–0.726), respectively. In the external validation cohort, C-index was 0.893 (95% CI: 0.928–0.858). The calibration plots basically coincides with the diagonal, indicating that the observed OS was almost equal to the predicted OS. It was shown in DCA that the nomogram has more important clinical significance than the traditional TNM stage.

Conclusion
A novel nomogram was developed to assess the prognosis of an elderly patient with early RCC and to predict prognosis and formulate treatment and follow-up strategies.
Breastfeeding practices among Syrian refugees in Turkey
Authors: Yalçin Siddika Songul , Erat Nergiz Meryem , Elci Ömur Cinar , Zikusooka Monica , Yalçin Suzan , Sucakli Mustafa Bahadir , Keklik Kanuni 
Published: February 2022

Abstract
Background
We evaluated (a) opinion of Syrian and Turkish healthcare workers (HCWs), and perceptions and attitudes of Syrian refugee mothers, pregnant women, fathers and grandmothers on age-appropriate breastfeeding, (b) the effect of cultural characteristics, migration and pandemics on Syrian’s infant nutrition, and (c) the suggestions of HCWs and Syrian family members to improve breastfeeding practices in the Syrian refugee society in a qualitative study.

Methods
The qualitative study consisting of structured focus group discussions (FGDs) was held in four provinces in Turkey where Syrian refugees live intensely in September and October 2020. Seven different types of online FGDs were held with Turkish HCWs working in maternity hospitals, Syrian HCWs working in Refugee Health Centers (RHCs), Syrian pregnant women, mothers, fathers, and grandmothers. In total, we carried out 46 FGDs with 335 individuals. Thematic analysis of the transcripts in a deductive-inductive fashion was carried out with MAXQDA 11.

Results
Most Syrian HCWs did not get any training on breastfeeding counseling. The short duration of breastfeeding in Syrian refugees was seen to be related to the cultural characteristics, and migration. Some cultural characteristics can be summarized as “believing that breastfeeding harms mother’s health”, “adolescent marriages”, “wanting to have as many children as possible”, “giving anise to infants and not breastfeeding at night”, “prelacteal feeding”, “believing that milk is not enough”, “over controlling mother–child interaction by grandmothers, which limits the interaction”, “short pregnancy intervals”, and “not using modern family planning techniques”. We found out that migration increased the tendency for adolescent pregnancies, deepened the poverty, and decreased family social support. We did not observe any change in breastfeeding practices during pandemics.

Conclusions
Breastfeeding counseling programs should be designed in consideration of cultural characteristics of Syrian HCWs and family members. Continuing health education programs for family members with socially appropriate interventions to prevent adolescent marriages are important.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Authors: Bolton Shaun C. , Soran Vina , Marfa Mercedes Pineda , Imrie Jackie , Gissen Paul , Jahnova Helena , Sharma Reena , Jones Simon , Santra Saikat , Crushell Ellen , Stampfer Miriam , Coll Maria Jose , Dawson Charlotte , Mathieson Toni , Green James , Dardis Andrea , Bembi Bruno , Patterson Marc C. , Vanier Marie T. , Geberhiwot Tarekegn 
Published: February 2022

Abstract
Background
Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural history of the disease. Here we report NPC patient data from the International Niemann-Pick Disease Registry (INPDR).

Method
The INPDR is a web-based, patient-led independent registry for the collection of prospective and retrospective clinical data from Niemann-Pick Disease patients. Baseline data from NPC patients enrolled into the INPDR from September 2014 to December 2019 was extracted to analyse the demographic, genetic and clinical features of the disease.

Results
A total of 203 NPC patients from six European countries were included in this study. The mean age (SD) at diagnosis was 11.2 years (14.2). Among enrolled patients, 168 had known neurological manifestations: 43 (24.2%) had early-infantile onset, 47 (26.4%) had late-infantile onset, 41 (23.0%) had juvenile onset, and 37 (20.8%) had adult onset. 10 (5.6%) patients had the neonatal rapidly fatal systemic form. Among the 97 patients with identified NPC1 variants, the most common variant was the c. 3182T > C variant responsible for the p.lle1061Thr protein change, reported in 35.1% (N = 34) of patients. The frequencies of hepatomegaly and neonatal jaundice were greatest in patients with early-infantile and late-infantile neurological onset. Splenomegaly was the most commonly reported observation, including 80% of adult-onset patients. The most commonly reported neurological manifestations were cognitive impairment (78.5%), dysarthria (75.9%), ataxia (75.9%), vertical supranuclear gaze palsy (70.9%) and dysphagia (69.6%). A 6-domain composite disability scale was used to calculate the overall disability score for each neurological form. Across all with neurological onset, the majority of patients showed moderate to severe impairments in all domains, except for ‘swallowing’ and ‘seizure’. The age at diagnosis and death increased with increased age of neurological symptom onset. Miglustat use was recorded in 62.4% of patients and the most common symptomatic therapies used by patients were antiepileptics (32.9%), antidepressants (11.8%) and antacids (9.4%).

Conclusion
The proportion of participants at each age of neurological onset was relatively equal across the cohort. Neurological manifestations, such as ataxia, dysphagia, and dysarthria, were frequently observed across all age categories.
Assessing gender responsiveness of COVID-19 response plans for populations in conflict-affected humanitarian emergencies
Authors: Asi Yara M. , Bebasari Priliantina , Hardy Emily , Lokot Michelle , Meagher Kristen , Ogbe Emilomo , Parray Ateeb Ahmad , Sharma Vandana , Standley Claire J. , Vahedi Luissa 
Published: February 2022

Abstract
Background
The COVID-19 pandemic has necessitated rapid development of preparedness and response plans to quell transmission and prevent illness across the world. Increasingly, there is an appreciation of the need to consider equity issues in the development and implementation of these plans, not least with respect to gender, given the demonstrated differences in the impacts both of the disease and of control measures on men, women, and non-binary individuals. Humanitarian crises, and particularly those resulting from conflict or violence, exacerbate pre-existing gender inequality and discrimination. To this end, there is a particularly urgent need to assess the extent to which COVID-19 response plans, as developed for conflict-affected states and forcibly displaced populations, are gender responsive.

Methods
Using a multi-step selection process, we identified and analyzed 30 plans from states affected by conflict and those hosting forcibly displaced refugees and utilized an adapted version of the World Health Organization’s Gender Responsive Assessment Scale (WHO-GRAS) to determine whether existing COVID-19 response plans were gender-negative, gender-blind, gender-sensitive, or gender-transformative.

Results
We find that although few plans were gender-blind and none were gender-negative, no plans were gender-transformative. Most gender-sensitive plans only discuss issues specifically related to women (such as gender-based violence and reproductive health) rather than mainstream gender considerations throughout all sectors of policy planning.

Conclusions
Despite overwhelming evidence about the importance of intentionally embedding gender considerations into the COVID-19 planning and response, none of the plans reviewed in this study were classified as ‘gender transformative.’ We use these results to make specific recommendations for how infectious disease control efforts, for COVID-19 and beyond, can better integrate gender considerations in humanitarian settings, and particularly those affected by violence or conflict.
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
Authors: Qin Shengfang , Wang Xueyan , Wang Jin 
Published: February 2022

AbstractBackgroundA male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX andSRYnegative.MethodsThe peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, azoospermia factor (AZF) deletion, short tandem repeat (STR) analysis forAMELX, AMELYandSRY, fluorescence in situ hybridization (FISH) with specific probes for CSP 18/CSP X/CSP Y/SRY, chromosomal microarray analysis (CMA) for genomic copy number variations(CNVs), whole-genome analysis(WGA) for genomic SNV&InDel mutation, and X chromosome inactivation (XCI) analysis.ResultsThe patient had a karyotype of 46,XX.AZFanalysis showed that he missed theAZFregion (including a, b and c) andSRYgene. STR assay revealed he possessed theAMELXin the X chromosome, but he had no theAMELYandSRYin the Y chromosome. FISH analysis with CSP X/CSP Y/SRYshowed only two X centromeric signals, but none Y chromosome andSRY. The above results of the karyotype, FISH and STR analysis did not suggest a Y chromosome chimerism existed in the patient's peripheral blood. The result of the CMA indicated a heterozygous deletion with an approximate size of 867 kb in Xq27.1 (hg19: chrX: 138,612,879–139,480,163 bp), located at 104 kb downstream ofSOX3gene, includingF9,CXorf66,MCF2andATP11C. WGA also displayed the above deletion fragment but did not present known pathogenic or likely pathogenic SNV&InDel mutation responsible for sex determination and development. XCI assay showed that he had about 75% of the X chromosome inactivated.ConclusionsAlthough the pathogenicity of 46,XX male patients withSRYnegative remains unclear,SOX3expression of the acquired function may be associated with partial testis differentiation of these patients. Therefore, the CNVs analysis of theSOX3gene and its regulatory region should be performed routinely for these patients.
Sunset Without AIDS: protocol for a randomized controlled trial of a brief video-based intervention to improve the ability of AIDS prevention in elderly men
Authors: Ren Jianlan , Li Mei , Luo Yue , Zheng Yu , Tang Jian , Wang Ying , Chen Yanhua 
Published: February 2022

Abstract
Background
Although progress has been made in the prevention and treatment of HIV in China, there are still a considerable number of new infections annually, especially in older men. HIV health education for older men is urgently needed. Evidence-based, acceptable, and scalable interventions are urgently needed to increase their capacity to prevent HIV. We describe a trial protocol to evaluate the effectiveness of a brief video-based intervention targeting older men's knowledge of HIV prevention.

Design
This study is a randomized controlled trial. The trial will be held in the residents’ activity centers of three communities.

Methods
A total of 450 older men will be randomly divided into three groups (Sunset Without AIDS intervention group and two control groups) for 2 weeks. We will assess the feasibility and acceptability of intervention through interviews. The primary outcome includes changes in participants’ knowledge related to AIDS after 2 weeks intervention and 1, 3, and 6 months of follow-up. The secondary outcomes, e.g., changes in participants’ stigma attitude, risk behaviors attitude, and risk behaviors related to AIDS, will be respectively assessed 2 weeks, 1 month, 3 months, and 6 months after the second intervention.

Discussion
Sunset Without AIDS may be an innovative way to help older men improve HIV prevention knowledge, fill the gap in video-based HIV prevention education for the older men in China, and gain experience of HIV education. This project will innovate the HIV education ideas of older men and enrich the theoretical research content of AIDS-related education of older men. The findings may also provide the basis for the research and formulation of more reasonable AIDS education strategies, prevention, and control policies for the elderly.

Trial registration
Chinese Clinical Trial Registry ChiCTR2100045708. Registered on 23 April 2021
CPR63 promotes pyrethroid resistance by increasing cuticle thickness in Culex pipiens pallens
Authors: Xu Yang , Xu Jingwei , Zhou Yang , Li Xixi , Meng Yufen , Ma Lei , Zhou Dan , Shen Bo , Sun Yan , Zhu Changliang 
Published: February 2022

AbstractThe cuticle protein (CP) encoded by CPR63 plays a role in deltamethrin resistance in Culex pipiens pallens. Herein, we investigated the distribution of CPR63 transcripts in this organism and observed high expression levels in legs and wings. Furthermore, expression of CPR63 in the legs of deltamethrin-resistant (DR) strains was 2.17-fold higher than in deltamethrin-susceptible (DS) strains. Cuticle analysis of small interfering RNA (siRNA) groups by scanning electron microscopy (SEM) revealed a significantly thinner cuticle of the tarsi in the siCPR63 group than in the siNC (negative control siRNA) group. Transmission electron microscopy (TEM) revealed that the exocuticle and endocuticle thickness of the tarsi were significantly thinner, which contributes the thinner procuticle of tarsi in the siCPR63 group than in the siNC group. Our results suggested that CPR63 might contribute to the resistance phenotype by thickening the cuticle and thereby possibly increasing the tolerance of mosquitoes to deltamethrin.
Determining the optimal strategies to achieve elimination of transmission for Schistosoma mansoni
Authors: Kura Klodeta , Ayabina Diepreye , Hollingsworth T. Deirdre , Anderson Roy M. 
Published: February 2022

AbstractBackgroundIn January 2021, the World Health Organization published the 2021–2030 roadmap for the control of neglected tropical diseases (NTDs). The goal for schistosomiasis is to achieve elimination as a public health problem (EPHP) and elimination of transmission (EOT) in 78 and 25 countries (by 2030), respectively. Mass drug administration (MDA) of praziquantel continues to be the main strategy for control and elimination. However, as there is limited availability of praziquantel, it is important to determine what volume of treatments are required, who should be targeted and how frequently treatment must be administered to eliminate either transmission or morbidity caused by infection in different endemic settings with varied transmission intensities.Methods and ResultsIn this paper, we employ two individual-based stochastic models of schistosomiasis transmission developed independently by the Imperial College London (ICL) and University of Oxford (SCHISTOX) to determine the optimal treatment strategies to achieve EOT. We find that treating school-age children (SAC) only is not sufficient to achieve EOT within a feasible time frame, regardless of the transmission setting and observed age–intensity of infection profile. Both models show that community-wide treatment is necessary to interrupt transmission in all endemic settings with low, medium and high pristine transmission intensities.ConclusionsThe required MDA coverage level to achieve either transmission or morbidity elimination depends on the prevalence prior to the start of treatment and the burden of infection in adults. The higher the worm burden in adults, the higher the coverage levels required for this age category through community-wide treatment programmes. Therefore, it is important that intensity and prevalence data are collected in each age category, particularly from SAC and adults, so that the correct coverage level can be calculated and administered.Graphical Abstract
Chondrocyte-derived exosomes promote cartilage calcification in temporomandibular joint osteoarthritis
Authors: Liu Qian , Wang Ruoxin , Hou Shujie , He Feng , Ma Yuanjun , Ye Tao , Yu Shibin , Chen Hongwei , Wang Helin , Zhang Mian 
Published: February 2022

AbstractBackgroundsAbnormal cartilage calcification is one of the pathological changes of temporomandibular joint (TMJ) osteoarthritis (OA). Recent studies have reported that exosomes can regulate the formation of abnormal calcified nodules in diseases including atherosclerosis and chronic kidney disease. However, the influences of chondrocyte-derived exosomes on abnormal cartilage calcification in TMJ OA are still unclear.MethodsTMJ OA was induced by unilateral anterior crossbite (UAC) for 4, 8, or 12 weeks in rats to observe abnormal calcification in TMJ condylar cartilage and exosome formation. Concomitantly, GW4869, the inhibitor of exosome formation, was locally injected to the TMJ of rats under stimulation of UAC, while the exosomes extracted from primary condylar chondrocytes stimulated with fluid flow shear stress (FFSS) were locally injected to rats TMJ.ResultsAbnormal calcification was enhanced in the degenerative cartilage of TMJ OA in UAC rats, and a large number of exosome-like structures with diameters of 50-150 nm were found in the calcified cartilage together with decreased expression of matrix Gla protein (MGP) and increased expression of CD63, tissue-nonspecific alkaline phosphatase (TNAP) and nucleotide pyrophosphatase/phosphodiesterase-1 (NPP1). After FFSS stimulation, the number of exosomes secreted by chondrocytes and the numbers of calcified nodules were increased in cultured cells, and the protein levels of MGP, TNAP, and NPP1 in exosomes were changed. Inhibition of exosome formation, TNAP, and NPP1 or supplementation with exogenous MGP effectively alleviated FFSS-induced chondrocyte calcification. Local injection of GW4869, the exosome inhibitor, alleviated TMJ OA-related cartilage degeneration and calcification in UAC rats. Local injection of exosomes obtained from chondrocytes stimulated by FFSS to the TMJs of normal rats induced cartilage degeneration and calcification similar to that in TMJ OA.ConclusionsAbnormal biomechanical loading leads to enhanced formation of chondrocyte-derived exosomes, in which promoters of calcification increased and inhibitors decreased, resulting in accelerating abnormal cartilage calcification in TMJ OA. The inhibition of degenerative chondrocyte-derived exosomes is expected to be a new way to prevent and treat TMJ OA.