bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long-term clinical prognosis of 335 infant single-gene positive FEVR cases
Authors: Chen Chunli , Cheng Yizhe , Zhang Zhihan , Zhang Xiang , Li Jiakai , Zhao Peiquan , Peng Xiaoyan 
Published: August 2022

Abstract
Purpose
To describe and analyze the clinical prognosis of infants diagnosed of familial exudative vitreoretinopathy (FEVR) with single gene mutation in long-term follow-up.

Methods
A retrospective case study was conducted on 355 FEVR infants with single positive gene.

Result
Of the 335 single-gene positive infant FEVR cases (under 3 years old), 20% (n = 67) was diagnosed of strabismus at first visit. Staging of various genotypes was different (P < 0.001). Patients with NDP mutations presented the most severe clinical phenotypes and patients with ZNF408 mutations presented the mildest clinical phenotypes. Most infants underwent surgery under 1 year old (5th stage 75 of 108 [69.44%]). The axial length of different genotypes showed no significant difference (P = 0.2891). The 1st to 3rd stage cases were given intravitreal injection and/or retina photocoagulation with the last follow-up vision above 20/67. The 4th to 5th stage cases received the transcorneal vitrectomy with lensectomy or lens sparing vitrectomy (LSV), whose lens maintained transparent after LSV (11/14[78.58%]). After 2 to 10 years of follow-up, 37.96% (41/108) of post-surgery cases showed retinal funnel-like unfold and posterior pole unfold, 69.57% (16/ 23) of which received second surgery for closure of pupil with good prognosis. At the last follow-up, 20% (60/300) were with vision above 20/200.

Conclusion
LRP5 gene mutation was the most common mutation in FEVR patients. The severity of the clinical phenotype varied with different gene mutations. The main surgical methods for cases at Stage 4–5 were transcorneal vitrectomy with lensectomy or LSV. The earlier FEVR occurred, the worse prognosis would be. Active surgical intervention and lens sparing were necessary for cases at Stage 4–5.
Assessing the prevalence and severity of asthma, rhinitis, and eczema among schoolchildren (6–7 and 13–14 years old) in Khuzestan, Iran: a cross-sectional survey
Authors: Dastoorpoor Maryam , Khodadadi Narges , Madadizadeh Farzan , Raji Hanieh , Shahidizadeh Elham , Idani Esmaeil , Shoushtari Maryam Haddadzadeh 
Published: August 2022

Abstract
Background
Asthma and allergic complications are the most common chronic disorders in children and adolescents. This study aimed to determine the prevalence and severity of asthma, allergic rhinitis, eczema among schoolchildren, and some related risk factors.

Methods
The cross-sectional study was performed in 2019 and involved 4000 students aged 6–7 years and 4000 students aged 13–14 years (both girls and boys) from urban schools in Khuzestan Province, southwestern Iran. We used the multi-stage sampling method. Data were collected using the Persian version of the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire.

Results
The prevalence of current wheeze, wheeze ever and asthma ever in the age group of 6–7 years was 3.8, 4.5, and 1.8%, respectively; in the age group of 13–14 years, it was 4.4, 5.9, and 3.4, respectively. In terms of gender, males (4.9, 6.0, and 2.7 percent, respectively) had substantially higher rates of current wheeze, wheeze ever, and asthma ever compared to the girls (2.8, 3.6, and 2.0 percent, respectively) (p < 0.001). The prevalence of rhinitis, Hay fever, and eczema among young people was 5.3%, 3.5%, and 1.0%, respectively. Current wheeze was more common in children with allergic rhinitis in the last 12 months (30.3% vs. 2.7%, p < 0.001), Hay fever (32.8% vs. 0.3%, p < 0.001) and eczema (27.8% vs 3.8%, p < 0.001), compared to children who did not.

Conclusions
The prevalence and severity of asthma symptoms were significantly associated with allergic rhinitis, eczema, and gender.
Antepartum sleep quality, mental status, and postpartum depressive symptoms: a mediation analysis
Authors: Wang Yu , Liu Han , Zhang Chen , Li Cheng , Xu Jing-Jing , Duan Chen-Chi , Chen Lei , Liu Zhi-Wei , Jin Li , Lin Xian-Hua , Zhang Chen-Jie , Zhang Han-Qiu , Yu Jia-Le , Li Tao , Dennis Cindy-Lee , Li Hong , Wu Yan-Ting 
Published: August 2022

Abstract
Background
Poor sleep quality and maternal mood disturbances are common during pregnancy and may play pivotal roles in the development of postpartum depression. We aim to examine the trajectories of sleep quality and mental health in women from early pregnancy to delivery and explore the mediating effects of sleep quality and mental status on the link between antepartum depressive symptoms and postpartum depressive symptoms.

Methods
In an ongoing prospective birth cohort, 1301 women completed questionnaires in the first, second and third trimesters and at 6 weeks postpartum. In each trimester, sleep quality was measured utilizing the Pittsburgh Sleep Quality Index (PSQI), and mental health was assessed with the Center for Epidemiologic Studies Depression Scale (CES-D), the Self-Rating Anxiety Scale (SAS) and the Perceived Stress Scale (PSS). Postpartum depressive symptoms were evaluated by the Edinburgh Postnatal Depression Scale (EPDS). The bootstrap method was used to test the mediation effect.

Results
The PSQI, CES-D, and SAS scores presented U-shaped curves across the antenatal period while the PSS score followed a descending trend. Antenatal sleep quality, depressive symptoms, anxiety symptoms and perceived stress all predicted depressive symptoms at 6 weeks postpartum. The influence of antepartum depressive symptoms on postpartum depressive symptoms was mediated by antepartum sleep quality and anxiety symptoms, which accounted for 32.14%, 39.25% and 31.25% in the first, second and third trimesters (P = 0.002, P = 0.001, P = 0.001, respectively).

Conclusions
Poor sleep quality and anxiety symptoms in pregnancy mediated the relationship between antepartum depressive symptoms and postpartum depressive symptoms. Interventions aimed at detecting and managing sleep quality and elevated anxiety among depressed women in pregnancy warrant further investigation as preventative strategies for postpartum depression.
Associations between health literacy and information-evaluation and decision-making skills in Japanese adults
Authors: Nakayama Kazuhiro , Yonekura Yuki , Danya Hitomi , Hagiwara Kanako 
Published: August 2022

AbstractBackgroundHealth literacy among Japanese is often low, making it difficult for them to evaluate health information and make informed decisions. However, the health literacy scales applied measure the perceived difficulty of health-related tasks; they do not directly assess the specific skills needed to perform the tasks: the skills to judge the reliability of diverse information using evaluation criteria and implement rational decision-making. Therefore, the study objectives were to investigate the following issues using a nationwide survey in Japan. (1) When obtaining information, to what extent do people apply criteria for evaluating information to confirm its reliability; when making decisions, to what extent do they seek out available options and compare pros and cons based on their own values? (2) How strongly are such skills associated with health literacy and demographic characteristics? (3) What opportunities are available to learn these skills?MethodsWe conducted an online questionnaire survey using a Japanese Internet research company; 3,914 valid responses were received. The measures comprised health literacy (European Health Literacy Survey Questionnaire), five items on information evaluation, four items on decision-making, and items on the availability and location of learning opportunities. We calculated Pearson correlations to explore the association of health literacy with information-evaluation and decision-making skills. Multivariate analyses were also conducted using these factors as dependent variables.ResultsFewer than half (30%–50%) of respondents reported always or often evaluating information and engaging in decision-making. Health literacy was significantly and positively correlated with the specific skills of information evaluation and decision-making (r = .26 and .30, respectively) as were multivariate analyses (beta = .15 and .22, respectively).Over 40% of respondents had never learned those skills. The most common resources for learning the skills were the Internet and television; less-used resources were schools and workplaces.ConclusionsBoth information-evaluation and decision-making skills were associated with health literacy. However, these skills are not sufficiently widespread in Japan because there are few opportunities to acquire them. More research is needed to raise awareness of the importance of such skills for improving health literacy and providing learning opportunities.
Small airway dysfunction in Chinese patients with idiopathic pulmonary fibrosis
Authors: Zhang Xinran , Xie Bingbing , Ban Chenjun , Ren Yanhong , Ye Qiao , Zhu Min , Liu Yan , Zhang Shu , Geng Jing , Jiang Dingyuan , Dai Huaping 
Published: August 2022

Abstract
Background
Recent years, idiopathic pulmonary fibrosis (IPF) is thought to be a disease of alveoli as well as small airways. This study aimed to demonstrate the clinical feature, predictor, and prognosis of small airway dysfunction (SAD) in Chinese patients with IPF.

Methods
We enrolled 416 patients with IPF who hospitalized in Beijing Chao-Yang Hospital from 2000 to 2014 in this study, and the follow-up ended at December 2016. We collected demographic information, clinical examination results, spirometry results, HRCT results, and blood gas results during the study. Logistic regression analysis was used to identify the predictor for SAD. The COX proportional hazard model was used to analysis the prognosis effect of SAD.

Results
Among all the participants, 165 (39.66%) patients had SAD. FEV1 (% predicted) and FEV3/FVC were significantly associated with SAD in patients with IPF. IPF patients with lower FEV1 (% predicted, OR 30.04, 95% CI 9.61–93.90) and FEV3/FVC (OR 77.76, 95% CI 15.44–391.63) had increased risk for SAD. Patients with SAD were associated with significantly increased risk of mortality in patients with IPF (HR 1.73, 95% CI 1.02–2.92), as well as in IPF patients without other pulmonary comorbidities (COPD, emphysema, and asthma).

Conclusions
Spirometry-defined SAD was like 40% in patients with IPF. Lower FEV1 (% predicted) and FEV3/FVC were main predictors for SAD. IPF patients with SAD showed poorer prognosis.
Organisation, influence, and impact of patient advisory boards in rehabilitation institutions—an explorative cross-sectional study
Authors: Sagen Joachim , Børøsund Elin , Simonsen Ann Elisabeth , Habberstad Andreas , Kjeken Ingvild , Dagfinrud Hanne , Moe Rikke Helene 
Published: August 2022

Abstract
Background
Patient participation is highlighted as an important facilitator for patient-centered care. Patient participation organised as patient advisory boards (PABs) is an integral part of health care institutions in Norway. More knowledge is needed on how PAB representatives experience patient engagement (PE) with regard to organisation, influence, and impact. The objective was to describe how PAB representatives experience their tasks, roles, and impact on decision-making processes and service delivery in the setting of rehabilitation institutions.

Methods
PAB representatives recruited from rehabilitation institutions completed the Norwegian version of the generic Public and Patient Engagement evaluation tool (Norwegian abbreviation EBNOR). EBNOR is tested for reliability and validity with good results and comprises 35 items within four main domains, policies and practices, participatory culture, collaboration, and influence and impact that provide responses about PE-levels. The domain items are scored from “strongly disagree” to “strongly agree” on a five-point scale, in addition to a don’t know category. Items in the domain “influence and impact” are scored from “never” to “all of the time” on a four-point scale. Categorical data were summarized using frequencies and percentages, and response categories were collapsed into three PE-levels: barrier, intermediate, and facilitating level. Free-text responses were analysed according to principles of manifest content analysis, summed up, and used to elaborate the results of the scores.

Results
Of the 150 contacted PAB representatives, 47 (32%) consented to participate. The results showed that approximately 75% agreed that the organisation as a whole was strengthened as a result of patient participation. Four out of five domains were scored indicating a facilitating level; policies and practices (53%), participatory culture (53%), collaboration and common purpose (37%), and final thoughts (63%). The modal score in the domain influence and impact was in the intermediate PE-level (44%). Of a total of 34 codes from free text analyses, barriers to PE were coded 26 times, and PE facilitators were coded 8 times.

Conclusions
The findings indicate that most PAB representatives are satisfied with how rehabilitation institutions organise their PAB, but they still experience their impact as limited.
Mobile health platform based on user-centered design to promote exercise for patients with peripheral artery disease
Authors: Kim Mihui , Kim Yesol , Choi Mona 
Published: August 2022

Abstract
Background
Peripheral artery disease (PAD) is a cardiovascular disease that can be improved by risk factor modification. Mobile health (mHealth) intervention is an effective method of healthcare delivery to promote behavior changes. An mHealth platform can encourage consistent involvement of participants and healthcare providers for health promotion. This study aimed to develop an mHealth platform consisting of a smartphone application (app) synchronized with a wearable activity tracker and a web-based portal to support exercise intervention in patients with PAD.

Methods
This study was conducted based on an iterative development process, including analysis, design, and implementation. In the analysis phase, a literature review and needs assessment through semi-structured interviews (n = 15) and a questionnaire-based survey (n = 138) were performed. The initial prototype design and contents were developed based on the users’ requirements. In the implementation phase, multidisciplinary experts (n = 4) evaluated the heuristics, following which the mHealth platform was revised. User evaluation of the usability was performed by nurses (n = 4) and patients with PAD (n = 3).

Results
Through the development process, the functional requirements of the platform were represented through visual display, reminder, education, self-monitoring, goal setting, goal attainment, feedback, and recording. In-app videos of exercise and PAD management were produced to provide information and in-app automatic text messages were developed for user motivation. The final version of the platform was rated 67.86 out of 100, which indicated “good” usability.

Conclusions
The mHealth platform was designed and developed for patients with PAD and their healthcare providers. This platform can be used to educate and promote individualized exercise among patients with PAD.
Hmga2 protein loss alters nuclear envelope and 3D chromatin structure
Authors: Divisato Giuseppina , Chiariello Andrea M. , Esposito Andrea , Zoppoli Pietro , Zambelli Federico , Elia Maria Antonietta , Pesole Graziano , Incarnato Danny , Passaro Fabiana , Piscitelli Silvia , Oliviero Salvatore , Nicodemi Mario , Parisi Silvia , Russo Tommaso 
Published: August 2022

Abstract
Background
The high-mobility group Hmga family of proteins are non-histone chromatin-interacting proteins which have been associated with a number of nuclear functions, including heterochromatin formation, replication, recombination, DNA repair, transcription, and formation of enhanceosomes. Due to its role based on dynamic interaction with chromatin, Hmga2 has a pathogenic role in diverse tumors and has been mainly studied in a cancer context; however, whether Hmga2 has similar physiological functions in normal cells remains less explored. Hmga2 was additionally shown to be required during the exit of embryonic stem cells (ESCs) from the ground state of pluripotency, to allow their transition into epiblast-like cells (EpiLCs), and here, we use that system to gain further understanding of normal Hmga2 function.

Results
We demonstrated that Hmga2 KO pluripotent stem cells fail to develop into EpiLCs. By using this experimental system, we studied the chromatin changes that take place upon the induction of EpiLCs and we observed that the loss of Hmga2 affects the histone mark H3K27me3, whose levels are higher in Hmga2 KO cells. Accordingly, a sustained expression of polycomb repressive complex 2 (PRC2), responsible for H3K27me3 deposition, was observed in KO cells. However, gene expression differences between differentiating wt vs Hmga2 KO cells did not show any significant enrichments of PRC2 targets. Similarly, endogenous Hmga2 association to chromatin in epiblast stem cells did not show any clear relationships with gene expression modification observed in Hmga2 KO. Hmga2 ChIP-seq confirmed that this protein preferentially binds to the chromatin regions associated with nuclear lamina. Starting from this observation, we demonstrated that nuclear lamina underwent severe alterations when Hmga2 KO or KD cells were induced to exit from the naïve state and this phenomenon is accompanied by a mislocalization of the heterochromatin mark H3K9me3 within the nucleus. As nuclear lamina (NL) is involved in the organization of 3D chromatin structure, we explored the possible effects of Hmga2 loss on this phenomenon. The analysis of Hi-C data in wt and Hmga2 KO cells allowed us to observe that inter-TAD (topologically associated domains) interactions in Hmga2 KO cells are different from those observed in wt cells. These differences clearly show a peculiar compartmentalization of inter-TAD interactions in chromatin regions associated or not to nuclear lamina.

Conclusions
Overall, our results indicate that Hmga2 interacts with heterochromatic lamin-associated domains, and highlight a role for Hmga2 in the crosstalk between chromatin and nuclear lamina, affecting the establishment of inter-TAD interactions.
Targeted delivery of irinotecan to colon cancer cells using epidermal growth factor receptor-conjugated liposomes
Authors: Liu Yongwei , Li Xinghui , Pen Renqun , Zuo Wei , Chen Ya , Sun Xiuying , Gou Juhua , Guo Qianwen , Wen Maoling , Li Wuqi , Yu Shuangjiang , Liu Hao , Huang Min 
Published: August 2022

Abstract
Background
CPT-11 (irinotecan) is one of the most efficient agents used for colorectal cancer chemotherapy. However, as for many other chemotherapeutic drugs, how to minimize the side effects of CPT-11 still needs to be thoroughly described.

Objectives
This study aimed to develop the CPT-11-loaded DSPE-PEG 2000 targeting EGFR liposomal delivery system and characterize its targeting specificity and therapeutic effect on colorectal cancer (CRC) cells in vitro and in vivo.

Results
The synthesized liposome exhibited spherical shapes (84.6 ± 1.2 nm to 150.4 nm ± 0.8 nm of estimated average sizes), good stability, sustained release, and enough drug loading (55.19%). For in vitro experiments, SW620 cells treated with CPT-11-loaded DSPE-PEG2000 targeting EGFR liposome showed lower survival extended level of intracellular ROS production. In addition, it generated an enhanced apoptotic cell rate by upregulating the protein expression of both cleaved-caspase-3 and cleaved-caspase-9 compared with those of SW620 cells treated with free CPT-11. Importantly, the xenograft model showed that both the non-target and EGFR-targeted liposomes significantly inhibited tumor growth compared to free CPT-11.

Conclusions
Compared with the non-target CPT-11-loaded DSPE-PEG2000 liposome, CPT-11-loaded DSPE-PEG2000 targeting EGFR liposome treatment showed much better antitumor activity in vitro in vivo. Thus, our findings provide new assets and expectations for CRC targeting therapy.
BTApep-TAT peptide inhibits ADP-ribosylation of BORIS to induce DNA damage in cancer
Authors: Zhang Yanmei , Fang Mengdie , Li Shouye , Xu Hao , Ren Juan , Tu Linglan , Zuo Bowen , Yao Wanxin , Liang Guang 
Published: August 2022

AbstractBackgroundBrother of regulator of imprinted sites (BORIS) is expressed in most cancers and often associated with short survival and poor prognosis in patients. BORIS inhibits apoptosis and promotes proliferation of cancer cells. However, its mechanism of action has not been elucidated, and there is no known inhibitor of BORIS.MethodsA phage display library was used to find the BORIS inhibitory peptides and BTApep-TAT was identified. The RNA sequencing profile of BTApep-TAT-treated H1299 cells was compared with that of BORIS-knockdown cells. Antitumor activity of BTApep-TAT was evaluated in a non-small cell lung cancer (NSCLC) xenograft mouse model. BTApep-TAT was also used to investigate the post-translational modification (PTM) of BORIS and the role of BORIS in DNA damage repair. Site-directed mutants of BORIS were constructed and used for investigating PTM and the function of BORIS.ResultsBTApep-TAT induced DNA damage in cancer cells and suppressed NSCLC xenograft tumor progression. Investigation of the mechanism of action of BTApep-TAT demonstrated that BORIS underwent ADP ribosylation upon double- or single-strand DNA damage. Substitution of five conserved glutamic acid (E) residues with alanine residues (A) between amino acids (AAs) 198 and 228 of BORIS reduced its ADP ribosylation. Inhibition of ADP ribosylation of BORIS by a site-specific mutation or by BTApep-TAT treatment blocked its interaction with Ku70 and impaired the function of BORIS in DNA damage repair.ConclusionsThe present study identified an inhibitor of BORIS, highlighted the importance of ADP ribosylation of BORIS, and revealed a novel function of BORIS in DNA damage repair. The present work provides a practical method for the future screening or optimization of drugs targeting BORIS.