bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient
Authors: Zhao Bo , Chen Lian , Zhang Peng , He Ke , Lei Min , Zhang Juan 
Published: April 2023

Abstract
Background
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bestrophin 1 (BEST1) gene. So far, we have not retrieved any case report of the same patient with both NF1 and BEST1 gene mutations.

Case presentation
An 8-year-old female patient with café-au-lait spots, freckling on skin presented to our ophthalmology clinic for routine ophthalmological examination. Her best corrected visual acuity (BCVA) was 20/20 in both eyes. Slit-lamp examination of both eyes revealed few yellowish-brown dome-shaped Lisch nodules over the iris surface. Fundus examination was notable for bilateral confluent yellowish subretinal deposits at macula, few yellow flecks at temporal retina, and cup-to-disc ratio of 0.2. Optical coherence tomography (OCT) revealed subretinal fluid (SRF) involving the fovea, elongated photoreceptor outer segments and mild intraretinal fluid (IRF) at bilateral macula. Fundus autofluorescence demonstrated hyperautofluorescence in the area corresponding to the subretinal deposits. Whole-exome sequencing and Sanger sequencing were used to investigate genetic mutation in the patient and her parents. A BEST1 gene heterozygous missense c.604 C > T (p.Arg202Trp) was identified in the patient and her mother. Also, the patient carries an NF1 nonsense mutation c.6637 C > T (p.Gln2213*) with the mosaic generalized phenotype. There were no visual impairments or obvious neurological, musculoskeletal, behavioral or other symptoms in this patient, so she was managed conservatively and advised to follow up regularly for a long time.

Conclusions
ARB and NF1, which are caused by two different pathogenic gene mutations, have rarely coexisted in the same patient. The discovery of pathogenic gene mutations may play a crucial role in more accurate diagnostics and genetic consultations for individuals and their families.
The effectiveness of additional screening examinations for children and adolescents in Germany: a longitudinal retrospective cohort study
Authors: Krüger Kathrin , Lapstich Anne-Marie , Reber Katrin Christiane , Sehlen Stephanie , Liersch Sebastian , Krauth Christian 
Published: April 2023

Abstract
Background
Continuous medical care is particularly important in childhood and adolescence. Since there are gaps in regular care in Germany, various health insurance providers offer to cover additional examinations (e.g., U10, U11, J2) to ensure ongoing paediatrician visits. However, the question arises as to whether these examinations are effective. Thus, the main objective of this study is to determine whether participation in the U10, U11 or J2 examinations leads to more frequent and earlier diagnosis and treatment of age-specific diseases.

Methods
The analyses are based on administrative claims data from a statutory health insurance fund. For each examination, an intervention group (IG) is formed and matched with a corresponding control group (CG). Descriptive analyses include proportion with diagnosis and treatment, average age of diagnosis and treatment initiation. Hypothesis testing is performed using methods appropriate to each. In addition, subgroup analyses and binominal logistic regression models are conducted.

Results
More diagnoses are detected in IG, irrespective of subgroups. Additionally, diagnoses are made slightly earlier on average in IG. In the total samples, more therapies are initiated in IG, and slightly earlier. Considering only diagnosed cases, more therapies are initiated in CG but continue to be started earlier in IG. Regression models show that participation in the examinations has the highest predictive power for detecting a diagnosis. The presence of a chronic disease and sex - male at the U10 and U11 and female at the J2 - are also significantly associated. The models further show that nationality, unemployment of parents and region also have a significant influence in some cases, whereas school-leaving qualification, vocational qualification and income of parents do not. Considering the initiation of treatment in overall samples, the models show similar results, but here the presence of a chronic illness has the highest predictive power.

Conclusion
The results indicate that participation in the examinations leads to significantly more diagnoses and, in the overall samples, significantly more treatments. In addition, diagnoses were made somewhat earlier and therapies were initiated somewhat earlier. In the future, it would be useful to investigate the U10, U11 and J2 examinations over a longer time horizon to determine whether the statistically significant difference found is also clinically relevant, i.e., earlier diagnosis and initiation of therapy lead to prevention of manifestation or progression of the diagnosed diseases and to avoidance of secondary diseases.

Trial registration
German Clinical Trials Register (DRKS), DRKS-ID: DRKS00015280. Prospectively registered on 18 March 2019.
Cross-cultural adaptation, reliability and validation of the Gillette Functional Assessment Questionnaire (FAQ) into Brazilian Portuguese in patients with cerebral palsy
Authors: da Silva Acácia Pinheiro Alvares Fernandes , Bassi-Dibai Daniela , Moreira Brunno Lima , Gava Aline Dalfito , Takahasi Henrique Yuji , Salomão Larissa Gustinelli Pereira Belo , Cacere Marcela , de Freitas Thomaz Fernanda , Dibai-Filho Almir Vieira 
Published: April 2023

Abstract
Background
The purpose of this study was to translate, cross-culturally adapt and validate the Gillette Functional Assessment Questionnaire (FAQ) into Brazilian Portuguese.

Methods
The translation and cross-cultural adaptation was carried out in accordance with international recommendations. The FAQ was applied to a sample of 102 patients diagnosed with cerebral palsy (CP). Construct validity was assessed using Spearman’s correlation coefficient (rho), and the FAQ score was correlated with the Functional Mobility Scale (FMS) and Gross Motor Function Classification Scale (GMFCS). A subsample of 50 patients was used to assess reliability using intraclass correlation coefficient (ICC), standard error of measurement (SEM) and minimum detectable difference (MDD). Ceiling and floor effects were also evaluated.

Results
The Brazilian version of the FAQ showed excellent test-retest reliability by the assessment of the physiotherapist (ICC = 0.99) and respondent (ICC = 0.97), as well as excellent inter-examiner reliability (ICC = 0.94). The SEM was 0.23 (physiotherapist), 0.47 (respondent) and 0.64 (inter-examiner), while the MDD was 0.64 (physiotherapist), 1.29 (respondent) and 1.76 (inter-examiner). The classification of gross motor function showed a high correlation with the FAQ applied by the physiotherapist (rho = -0.89) and by the respondent (rho = -0.87). The FMS-5 m was highly correlated with the FAQ applied by the physiotherapist and the respondent (rho = 0.88 and rho = 0.87, respectively). The FMS-50 and FMS-500 presented very high correlation with the FAQ applied by the physiotherapist (rho = 0.91 for both) and high correlation with the FAQ applied by the respondent (rho = 0.89 and rho = 0.88, respectively). The Brazilian version of the FAQ did not present the ceiling and floor effects.

Conclusion
The FAQ presented adequate psychometric properties in patients with CP, indicating that it is possible to use it as a measure of functional gait mobility in Brazil.
A systematic review and meta-analysis of studies exploring prevalence of non-specific anxiety in undergraduate university students
Authors: Ahmed Irtiqa , Hazell Cassie M. , Edwards Bethany , Glazebrook Cris , Davies E. Bethan 
Published: April 2023

Abstract
Background
Anxiety is a common mental health problem in the general population, and is associated with functional impairment and negative impacts upon quality of life. There has been increased concern about university students’ mental health in recent years, with a wide range of non-specific anxiety rates reported worldwide in undergraduate university students. We aimed to explore prevalence of non-specific anxiety in undergraduate university student populations.

Methods
Four databases were searched to identify studies published between 1980 and 2020 which investigated prevalence of non-specific anxiety in undergraduate university students. Each study’s quality was appraised using a checklist. Sub-analyses were undertaken reflecting outcome measure utilized, course of study, location of study, and whether study was before or during the COVID-19 pandemic.

Results
A total of 89 studies – representing approx. 130,090 students—met inclusion criteria. Eighty-three were included in meta-analysis, calculating a weighted mean prevalence of 39.65% (95% CI: 35.72%—43.58%) for non-specific anxiety. Prevalence from diagnostic interview studies ranged from 0.3%-20.8% 12-month prevalence. Prevalence varied by outcome measure used to assess non-specific anxiety, the type of course studied by sample, and by study location. In half the studies, being female was associated with being more likely to have higher non-specific anxiety scores and/or screening above thresholds. Few of the included studies met all quality appraisal criteria.

Conclusion
The results suggest that approximately a third of undergraduate students are experiencing elevated levels of non-specific anxiety. Results from sub-analyses have identified some methodological issues that need consideration in appraising prevalence in this population.
“If your mother does not teach you, the world will…”: a qualitative study of parent-adolescent communication on sexual and reproductive health issues in Border districts of eastern Uganda
Authors: Ndugga Patricia , Kwagala Betty , Wandera Stephen Ojiambo , Kisaakye Peter , Mbonye Martin K. , Ngabirano Fred 
Published: April 2023

Abstract
Background
Adolescents experience a host of sexual and reproductive health (SRH) challenges, with detrimental SRH and socio-economic consequences. These include early sexual debut, sexually transmitted infections including HIV/AIDS, teenage pregnancy, and early childbearing. Parent-adolescent communication about SRH has significant potential to reduce adolescents’ risky sexual behaviors. However, communication between parents and adolescents is limited. This study explored the facilitators and barriers to parent-adolescent communication about sexual and reproductive health.

Methods
We conducted a qualitative study in the border districts of Busia and Tororo in Eastern Uganda. Data collection entailed 8 Focus Group Discussions comprising of parents, adolescents (10–17 years), and 25 key informants. Interviews were audio-recorded, transcribed, and translated into English. Thematic analysis was conducted with the aid of NVIVO 12 software.

Results
Participants acknowledged the key role parents play in communicating SRH matters; however, only a few parents engage in such discussions. Facilitators of parent-adolescent communication were: having a good parent-child relationship which makes parents approachable and motivates children to discuss issues openly, a closer bond between mothers and children which is partly attributed to gender roles and expectations eases communication, and having parents with high education making them more knowledgeable and confident when discussing SRH issues with children. However, the discussions are limited by cultural norms that treat parent-child conversations on SRH as a taboo, parents’ lack of knowledge, and parents busy work schedules made them unavailable to address pertinent SRH issues.

Conclusion
Parents’ ability to communicate with their children is hindered by cultural barriers, busy work schedules, and a lack of knowledge. Engaging all stakeholders including parents to deconstruct sociocultural norms around adolescent SRH, developing the capacity of parents to confidently initiate and convey accurate SRH information, initiation of SRH discussions at early ages, and integrating parent-adolescent communication into parenting interventions, are potential strategies to improve SRH communication between parents and adolescents in high-risk settings such as borders.
Prevalence and associated factors of smoking among chinese adolescents: a school-based cross-sectional study
Authors: Lin Bingliang , Liu Xin , Lu Wenlong , Wu Xiaobing , Li Yanyan , Zhang Ziyang , Fu Rongyin , Zhang Luge , Xiong Jingfan 
Published: April 2023

Abstract
Background
Shenzhen has made great efforts to address the tobacco epidemic in the past decade. This study aims to evaluate the current status of the tobacco epidemic among adolescent in Shenzhen, China.

Methods
The multi-stage random cluster sampling method was used in the school-based cross-sectional study in 2019 and a total of 7,423 junior and high school (both senior and vocational) students were recruited. Information on cigarette use was collected by the electronic questionnaire. Logistic regression analysis was used to examine the associations between current cigarette use and associated factors. ORs with their 95% CIs were reported.

Results
The prevalence of current cigarette use among adolescents was 2.3%, with boys (3.4%) significantly higher than girls (1.0%). Smoking rates in junior high schools, senior high schools, and vocational senior high schools were 1.0%, 2.7%, and 4.1%, respectively. The results of multivariate logistic regression analysis indicated that gender, age, parental smoking, teachers smoking in schools, friends smoking, exposure to tobacco marketing, and misconceptions about cigarette use were associated factors for adolescent smoking behaviour.

Conclusions
The prevalence of current smoking was relatively low among adolescent in Shenzhen, China. Personal characteristics, family, and school were associated with current adolescent smokers.
Assessing exposure to outdoor advertisement for products high in fat, salt and sugar (HFSS); is self-reported exposure a useful exposure metric?
Authors: Scott Lauren J. , Toumpakari Zoi , Nobles James , Sillero-Rejon Carlos , Jago Russell , Cummins Steven , Blake Sarah , Horwood Jeremy , Vocht Frank de 
Published: April 2023

Abstract
Background
Exposure to advertising of unhealthy commodities such as fast-food and gambling is recognised as a risk factor for developing non-communicable diseases. Assessment of the impact of such advertisement and the evaluation of the impact of any policies to restrict such advertisements on public health are reliant on the quality of the exposure assessment. A straightforward method for assessing exposure is to ask people whether they noticed any such advertisements in their neighbourhoods. However, the validity of this method is unclear. We assessed the associations between measured exposure to outdoor advertising, self-reported exposure, and self-reported consumption.

Methods
We collected exposure information in January-March 2022 using two methods: (i) through a resident survey investigating advertising and consumption of unhealthy products, distributed across Bristol and neighbouring South Gloucestershire, and (ii) through in-person auditing. Self-reported exposure was obtained from the resident survey (N = 2,560) and measured exposure from photos obtained for all Council owned advertisement sites (N = 973 bus stops). Both data sources were geographically linked at lower-super-output-area level. Reporting ratios (RRs), 95% confidence intervals (CIs), and Cohen’s kappas, are presented.

Results
24% of advertisements displayed food and/or drink advertising. Bristol respondents in neighbourhoods displaying food/drink adverts were more likely to also report seeing these adverts compared to those in neighbourhoods without food/drink adverts (59% vs. 51%, RR = 1.15, 95%CI 1.01–1.31). There was no such association in South Gloucestershire (26% vs. 32%, RR = 0.82, 95%CI 0.58–1.14). Respondents in both Bristol and South Gloucestershire who recalled seeing advertising for unhealthy food and drink products were more likely to consume them (e.g. for fast-food: 22% vs. 11%, RR = 2.01, 95%CI 1.68–2.42). There was no such association between measured food and drink adverts in respondents’ local areas and self-reported consumption of HFSS product (90.1% vs. 90.7%, RR = 0.99, 95%CI 0.96–1.03).

Conclusions
Self-reported outdoor advertisement exposure is correlated with measured exposure, making this a useful methodology for population studies. It has the added advantage that it correlates with consumption. However, given that measurement error can be significant and self-reported exposure is known to be susceptible to various biases, inferences from studies using this exposure metric should be made with caution.
Subjective valuation of Iranian women for screening for gene-related diseases: a case of breast cancer
Authors: Meshkani Zahra , Moradi Najmeh , Aboutorabi Ali , Jafari Abdosaleh , Shams Roshanak 
Published: April 2023

Abstract
Background
About 5–10% of breast cancer cases are attributed to a gene mutation. To perform preventive interventions for women with a gene mutation, genetic screening BRCA tests have recently been implemented in Iran. The present study aimed to determine Iranian women’s subjective valuation for screening BRCA tests for early detection of breast cancer to help policymakers to make decisions about genetic screening tests for breast cancer and to know the applicants.

Methods
An online survey was completed by women older than 30 years old in Tehran, the capital of Iran in 2021. A hypothetical scenario about genetic screening tests for breast cancer was defined. The subjective valuation for the tests was assessed by a willingness to pay (WTP) using the contingent valuation method (CVM) by payment card. Demographics, history of breast cancers, knowledge, and physiological variables were considered as independent variables, and a logistic regression model assessed the relationship between WTP and the variables.

Results
660 women were included. 88% of participants intended to participate in BRCA genetic screening for breast cancer if it were free. The mean WTP for the tests was about $ 20. Based on the logistic regression, income, family history of breast or ovarian cancer, and positive attitude were associated with WTP.

Conclusions
Iranian women were willing to intend for genetic screening BRCA tests and pay for them as well. The result of the present study is of great importance for policy makers when it comes to funding and determining co-payments for BRCA genetic screening tests. To achieve a high participation rate of women in breast cancer screening plans, a positive attitude should be promoted as a psychological factor. Educational and informative programs can help.
The association of conspiracy beliefs and the uptake of COVID-19 vaccination: a cross-sectional study
Authors: Kowalska-Duplaga Kinga , Duplaga Mariusz 
Published: April 2023

AbstractThe COVID-19 pandemic revealed that health denialism might be an important determinant of adherence to preventive measures during epidemic challenges. Conspiracy beliefs seem to be one of the most visible manifestations of denialism in society. Despite intensive efforts to promote COVID-19 vaccinations, the number of citizens reluctant to get vaccinated was very large in many countries. The main aim of this study was the analysis of the association between the acceptance of the COVID-19 vaccination and conspiracy beliefs among adult Internet users in Poland. The analysis was based on data from a survey performed on a sample of 2008 respondents in October 2021. Uni- and multivariable logistic regression models were applied to evaluate the association between attitudes towards COVID-19 vaccination and generic conspiracist, vaccine-conspiracy, and COVID-19-related conspiracy beliefs. In the multivariable model, the effect of conspiracy beliefs was adjusted for the level of vaccine hesitancy, future anxiety, political sympathies, and socio-demographic variables. Univariate regression models showed that COVID-19 vaccination acceptance is significantly lower among respondents with higher levels of all three types of conspiracy beliefs. In the multivariable model, the effect of COVID-19-related and vaccine conspiracy beliefs, but not generic conspiracist beliefs, was maintained after adjusting for vaccine hesitancy. We conclude that conspiracy beliefs should be treated as a potential indicator of lower adherence to preventive measures during epidemic challenges. The respondents revealing a high level of conspirational thinking are a potential group for intensified actions which employ health educational and motivational interventions.
Identifying chronic obstructive pulmonary disease from integrative omics and clustering in lung tissue
Authors: Hobbs Brian D , Morrow Jarrett D , Wang Xu-Wen , Liu Yang-Yu , DeMeo Dawn L , Hersh Craig P , Celli Bartolome R , Bueno Raphael , Criner Gerard J , Silverman Edwin K , Cho Michael H 
Published: April 2023

AbstractBackgroundChronic obstructive pulmonary disease (COPD) is a highly morbid and heterogenous disease. While COPD is defined by spirometry, many COPD characteristics are seen in cigarette smokers with normal spirometry. The extent to which COPD and COPD heterogeneity is captured in omics of lung tissue is not known.MethodsWe clustered gene expression and methylation data in 78 lung tissue samples from former smokers with normal lung function or severe COPD. We applied two integrative omics clustering methods: (1) Similarity Network Fusion (SNF) and (2) Entropy-Based Consensus Clustering (ECC).ResultsSNF clusters were not significantly different by the percentage of COPD cases (48.8% vs. 68.6%, p = 0.13), though were different according to median forced expiratory volume in one second (FEV1) % predicted (82 vs. 31, p = 0.017). In contrast, the ECC clusters showed stronger evidence of separation by COPD case status (48.2% vs. 81.8%, p = 0.013) and similar stratification by median FEV1% predicted (82 vs. 30.5, p = 0.0059). ECC clusters using both gene expression and methylation were identical to the ECC clustering solution generated using methylation data alone. Both methods selected clusters with differentially expressed transcripts enriched for interleukin signaling and immunoregulatory interactions between lymphoid and non-lymphoid cells.ConclusionsUnsupervised clustering analysis from integrated gene expression and methylation data in lung tissue resulted in clusters with modest concordance with COPD, though were enriched in pathways potentially contributing to COPD-related pathology and heterogeneity.