bluuebunny/crossref_metadata_2025_split huggingface dataset:
Advancing artificial intelligence-assisted pre-screening for fragile X syndrome
Authors: Movaghar Arezoo , Page David , Brilliant Murray , Mailick Marsha 
Published: June 2022

Abstract
Background
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, is significantly underdiagnosed in the general population. Diagnosing FXS is challenging due to the heterogeneity of the condition, subtle physical characteristics at the time of birth and similarity of phenotypes to other conditions. The medical complexity of FXS underscores an urgent need to develop more efficient and effective screening methods to identify individuals with FXS. In this study, we evaluate the effectiveness of using artificial intelligence (AI) and electronic health records (EHRs) to accelerate FXS diagnosis.

Methods
The EHRs of 2.1 million patients served by the University of Wisconsin Health System (UW Health) were the main data source for this retrospective study. UW Health includes patients from south central Wisconsin, with approximately 33 years (1988–2021) of digitized health data. We identified all participants who received a code for FXS in the form of International Classification of Diseases (ICD), Ninth or Tenth Revision (ICD9 = 759.83, ICD10 = Q99.2). Only individuals who received the FXS code on at least two occasions (“Rule of 2”) were classified as clinically diagnosed cases. To ensure the availability of sufficient data prior to clinical diagnosis to test the model, only individuals who were diagnosed after age 10 were included in the analysis. A supervised random forest classifier was used to create an AI-assisted pre-screening tool to identify cases with FXS, 5 years earlier than the time of clinical diagnosis based on their medical records. The area under receiver operating characteristic curve (AUROC) was reported. The AUROC shows the level of success in identification of cases and controls (AUROC = 1 represents perfect classification).

Results
52 individuals were identified as target cases and matched with 5200 controls. AI-assisted pre-screening tool successfully identified cases with FXS, 5 years earlier than the time of clinical diagnosis with an AUROC of 0.717. A separate model trained and tested on UW Health cases achieved the AUROC of 0.798.

Conclusions
This result shows the potential utility of our tool in accelerating FXS diagnosis in real clinical settings. Earlier diagnosis can lead to more timely intervention and access to services with the goal of improving patients’ health outcomes.
Racism and antiracism in nursing education: confronting the problem of whiteness
Authors: Hantke Sharissa , St. Denis Verna , Graham Holly 
Published: June 2022

Abstract
Background
Systemic racism in Canadian healthcare may be observed through racially inequitable outcomes, particularly for Indigenous people. Nursing approaches intending to respond to racism often focus on culture without critically addressing the roots of racist inequity directly. In contrast, the critical race theory approach used in this study identifies whiteness as the underlying problem; a system of racial hierarchy that accords value to white people while it devalues everyone else.

Methods
This qualitative study seeks to add depth to the understanding of how whiteness gets performed by nursing faculty and poses antiracism education as a necessary tool in addressing the systemic racism within Canadian healthcare. The methodology of poststructural discourse analysis is used to explore the research question: how do white nursing faculty draw on common discourses to produce themselves following introductory antiracism education?

Results
Analysis of data reveals common patterns of innocent and superior white identity constructions including benevolence, neutrality, Knowing, and exceptionalism. While these patterns are established in other academic fields, the approaches and results of this study are not yet common in nursing literature.

Conclusions
The findings highlight the need for antiracism education at personal and policy levels beginning in nursing programs.
Evaluating eye health care services progress towards VISION 2020 goals in Gurage Zone, Ethiopia
Authors: Soboka Jibat Gemida , Teshome Tiliksew T. , Salamanca Omar , Calise Alana 
Published: June 2022

Abstract
Background
Ethiopia signed the VISION 2020 Global Declaration and launched its eye health program in 2002. Since then, there has been limited systematic and comprehensive evaluation of the progress towards VISION 2020 goals in Ethiopia.

Objective
To evaluate Gurage Zone progress towards VISION 2020 targets and process indicators.

Method
An institutional-based cross-sectional study was conducted among all public and private eye health care facilities in the Gurage Zone within the Southern Nations, Nationalities, and People Region of Ethiopia. The evaluation protocol was adopted from the VISION 2020 situational analysis data collection tool. We used this structure to evaluate progress in terms of human resources for eye health, infrastructure, and service delivery at the zonal health office and health facilities. At the time of the study, Gurage Zone had a 1.7 million catchment area population. There were a total of five eye care centers, one of which was established by a non-governmental organization. Three of these facilities were secondary eye care centers with an operating theatre and two facilities were primary eye care centers. At the zonal level, there was no survey data available on the prevalence of blindness.

Result
There was no systemic evaluation of VISION 2020 process indicators. The budget allocation specific to eye health care was less than 0.7% of the total budget of the zonal health office. The human resources for eye health (HReH) in the catchment area were: one ophthalmologist, two cataract surgeons, five optometrists, and 12 ophthalmic nurses, which is below the VISION 2020 targets for HReH. In terms of equipment, neither primary eye care center had a slit lamp biomicroscope, and two of the three secondary eye care centers did not have intraocular pressure measuring equipment. Only one secondary eye care center was providing glaucoma surgical services, and no center provided emergency and elective pediatric surgery. The cataract surgical rate determined by the study was 1967.

Conclusion
Gurage Zone showed significant improvement in terms of cataract surgical rate. But it had not achieved VISION 2020 goals in terms of critical HReH and service delivery. We recommend that the zonal health office carries out a focused and baseline evaluation of eye health care service achievements.
Creating ‘Partnership in iSupport program’ to optimise family carers’ impact on dementia care: a randomised controlled trial protocol
Authors: Xiao Lily , Yu Ying , Ratcliffe Julie , Milte Rachel , Meyer Claudia , Chapman Michael , Chen Langduo , Ullah Shahid , Kitson Alison , De Andrade Andre Queiroz , Beattie Elizabeth , Brodaty Henry , McKechnie Sue , Low Lee-Fay , Nguyen Tuan Anh , Whitehead Craig , Brijnath Bianca , Sinclair Ronald , Voss Diana 
Published: June 2022

Abstract
Background
The majority of people with dementia are cared for by their family members. However, family carers are often unprepared for their caring roles, receiving less education and support compared with professional carers. The consequences are their reduced mental and physical health and wellbeing, and that of care recipients. This study protocol introduces the ‘Partnership in iSupport program’ that includes five interventional components: managing transitions, managing dementia progression, psychoeducation, carer support group and feedback on services. This health services research is built on family carer and dementia care service provider partnerships. The aims of the study are to evaluate the effectiveness, cost-effectiveness and family carers’ experiences in the program.

Methods
A multicentre randomised controlled trial will be conducted with family carers of people living with dementia from two tertiary hospitals and two community aged care providers across three Australian states. The estimated sample size is 185 family carers. They will be randomly assigned to either the intervention group or the usual care group. Outcomes are measurable improvements in quality of life for carers and people with dementia, caregiving self-efficacy, social support, dementia related symptoms, and health service use for carers and their care recipients. Data will be collected at three time points: baseline, 6 months and 12 months post-initiation of the intervention.

Discussion
This is the first large randomised controlled trial of a complex intervention on health and social care services with carers of people living with dementia in real-world practice across hospital and community aged care settings in three Australian states to ascertain the effectiveness, cost-effectiveness and carers’ experiences of the innovative program. We expect that this study will address gaps in supporting dementia carers in health and social care systems while generating new knowledge of the mechanisms of change in the systems. Findings will strengthen proactive health management for both people living with dementia and their carers by embedding, scaling up and sustaining the ‘Partnership in iSupport program’ in the health and social care systems.

Trial registration
The Australian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12622000199718. Registered February 4th, 2022.
Are prevention of mother-to-child HIV transmission service providers acquainted with national guideline recommendations? A cross-sectional study of primary health care centers in Lagos, Nigeria
Authors: Okusanya B. , Nweke C. , Gerald L. B. , Pettygrove S. , Taren D. , Ehiri J. 
Published: June 2022

Abstract
Background
Implementation of interventions for the prevention of mother-to-child transmission (PMTCT) of HIV in low- and middle-income countries, faces several barriers including health systems challenges such as health providers’ knowledge and use of recommended guidelines. This study assessed PMTCT providers’ knowledge of national PMTCT guideline recommendations in Lagos, Nigeria.

Methods
This was a cross-sectional survey of a purposive sample of twenty-three primary health care (PHC) centers in the five districts of Lagos, Nigeria. Participants completed a self-administered 16-item knowledge assessment tool created from the 2016 Nigeria PMTCT guidelines. Research Electronic Data Capture (REDCap) was used for data entry and R statistical software used for data analysis. The Chi square test with a threshold of P < 0.05 considered as significant was used to test the hypothesis that at least 20% of service providers will have good knowledge of the PMTCT guidelines.

Results
One hundred and thirteen (113) respondents participated in the survey. Most respondents knew that HIV screening at the first prenatal clinic was an entry point to PMTCT services (97%) and that posttest counselling of HIV-negative women was necessary (82%). Similarly, most respondents (89%) knew that early infant diagnosis (EID) of HIV should occur at 6–8 weeks of life (89%). However, only four (3.5%) respondents knew the group counselling and opt-out screening recommendation of the guidelines; 63% did not know that haematocrit check should be at every antenatal clinic visit. Forty-eight (42.5%) service providers had good knowledge scores, making the hypothesis accepted. Knowledge score was not influenced by health worker cadre (p = 0.436), training(P = 0.537) and professional qualification of ≤5 years (P = 0.43).

Conclusion
Service providers’ knowledge of the PMTCT guidelines recommendations varied. The knowledge of group counselling and opt-out screening recommendations was poor despite the good knowledge of infant nevirapine prophylaxis. The findings highlight the need for training of service providers.
Relationship between clinician documented blast exposure and pulmonary function: a retrospective chart review from a national specialty clinic
Authors: Therkorn Jennifer H. , Hu Sean , Sotolongo Anays M. , Christie Israel C. , Wu Tianshi David , Van Doren William W. , Sajja Venkata Siva Sai Sujith , Jani Nisha , Klein-Adams Jacquelyn C. , Helmer Drew A. , Falvo Michael J. 
Published: June 2022

Abstract
Background
Service member exposure to explosive blast overpressure waves is common with considerable attention to traumatic brain injury (TBI) and neuropsychological sequalae. Less is known about the impacts on the respiratory system, particularly long-term effects, despite vulnerability to overpressure. Using a national registry, we previously observed an independent relationship between self-reported blast exposure and respiratory symptoms; however, the impact on objective measures of pulmonary function is poorly understood.

Methods
307 Veterans referred to our national specialty center for post-deployment health concerns underwent a comprehensive multi-day evaluation that included complete pulmonary function testing (PFT), occupational and environmental medicine history, neuropsychological or psychological evaluation. We developed an a priori chart abstraction process and template to classify Veterans into blast exposure groups: (1) none, (2) single-mild, or (3) multiple-mild. This template focused primarily on clinician documented notes of blast related TBI that were used as proxy for blast overpressure injury to thorax. PFT variables characterizing flow (FEV1%; %∆FEV1), volume (TLC%), diffusion (DLCO%) and respiratory mechanics (forced oscillometry) were selected for analysis.

Results
Veterans (40.5 ± 9.7 years; 16.3% female) were referred 8.6 ± 3.6 years after their last deployment and presented with considerable comorbid conditions and health problems (e.g., 62% post-traumatic stress, 55% dyspnea). After chart abstraction, Veterans were assigned to none (n = 208), single mild (n = 52) and multiple mild (n = 47) blast exposure groups. Among the blast exposed, clinicians documented 73.7% were < 50 m from the blast and 40.4% were physically moved by blast. PFT outcome measures were similar across all groups (p value range: 0.10–0.99).

Conclusions
In this referred sample of deployed Veterans, PFT measures of flow, volume, diffusion, and respiratory mechanics were not associated with clinician documented blast exposure per the retrospective chart abstraction methodology applied. Yet, these clinical findings suggest future research should determine and assess distinction between Veteran recollections of perceived blast experiences versus overpressure wave exposure to the respiratory system.
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
Authors: Lopez-Campos José Luis , Osaba Lourdes , Czischke Karen , Jardim José R. , Fernandez Acquier Mariano , Ali Abraham , Günen Hakan , Rapun Noelia , Drobnic Estrella , Miravitlles Marc 
Published: June 2022

Abstract
Introduction
Currently, strategies for improving alpha1 antitrypsin deficiency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal swabs sent by post or courier and with web registration for subjects with suspected AATD in Argentina, Brazil, Chile, Colombia, Spain, and Turkey.

Methods
This was an observational, cross-sectional analysis of samples from patients with suspected AATD from March 2018 to January 2022. Samples were coded on a web platform and sent by post or courier to the central laboratory in Northern Spain. Allele-specific genotyping for the 14 most common mutations was carried out with the A1AT Genotyping Test (Progenika-Grifols, Spain). SERPINA1 gene sequencing was performed if none of the mutations were found or one variant was detected in heterozygous status and the AAT serum level was < 60 mg/dl, or if requested by the clinician in charge.

Results
The study included 30,827 samples: 30,458 (94.7%) with final results after direct genotyping and 369 (1.1%) with additional gene sequencing. Only 0.3% of the samples were not processed due to their poor quality. The prevalence of the most frequent allele combinations was MS 14.7%, MZ 8.6%, SS 1.9%, SZ 1.9%, and ZZ 0.9%. Additionally, 70 cases with new mutations were identified. Family screening was conducted in 2.5% of the samples. Samples from patients with respiratory diseases other than COPD, including poorly controlled asthma or bronchiectasis, also presented AATD mutations.

Conclusions
Our results confirm the viability of this diagnostic system for genotyping AATD conducted simultaneously in different countries. The system has proved satisfactory and can improve the timely diagnosis of AATD.
Epidemiology of the diabetes-cardio-renal spectrum: a cross-sectional report of 1.4 million adults
Authors: Schechter Meir , Melzer Cohen Cheli , Yanuv Ilan , Rozenberg Aliza , Chodick Gabriel , Bodegård Johan , Leiter Lawrence A. , Verma Subodh , Lambers Heerspink Hiddo J. , Karasik Avraham , Mosenzon Ofri 
Published: June 2022

Abstract
Background
Type-2 diabetes (T2D), chronic kidney disease, and heart failure (HF) share epidemiological and pathophysiological features. Although their prevalence was described, there is limited contemporary, high-resolution, epidemiological data regarding the overlap among them. We aimed to describe the epidemiological intersections between T2D, HF, and kidney dysfunction in an entire database, overall and by age and sex.

Methods
This is a cross-sectional analysis of adults ≥ 25 years, registered in 2019 at Maccabi Healthcare Services, a large healthcare maintenance organization in Israel. Collected data included sex, age, presence of T2D or HF, and last estimated glomerular filtration rate (eGFR) in the past two years. Subjects with T2D, HF, or eGFR < 60 mL/min/1.73 m2 were defined as within the diabetes-cardio-renal (DCR) spectrum.

Results
Overall, 1,389,604 subjects (52.2% females) were included; 445,477 (32.1%) were 25– < 40 years, 468,273 (33.7%) were 40– < 55 years, and 475,854 (34.2%) were ≥ 55 years old. eGFR measurements were available in 74.7% of the participants and in over 97% of those with T2D or HF. eGFR availability increased in older age groups. There were 140,636 (10.1%) patients with T2D, 54,187 (3.9%) with eGFR < 60 mL/min/1.73m2, and 11,605 (0.84%) with HF. Overall, 12.6% had at least one condition within the DCR spectrum, 2.0% had at least two, and 0.23% had all three. Cardiorenal syndrome (both HF and eGFR < 60 mL/min/1.73m2) was prevalent in 0.40% of the entire population and in 2.3% of those with T2D. In patients with both HF and T2D, 55.2% had eGFR < 60 mL/min/1.73m2 and 15.8% had eGFR < 30 mL/min/1.73m2. Amongst those within the DCR spectrum, T2D was prominent in younger participants, but was gradually replaced by HF and eGFR < 60 mL/min/1.73m2 with increasing age. The congruence between all three conditions increased with age.

Conclusions
This large, broad-based study provides a contemporary, high-resolution prevalence of the DCR spectrum and its components. The results highlight differences in dominance and degree of congruence between T2D, HF, and kidney dysfunction across ages.
An enhanced antioxidant strategy of astaxanthin encapsulated in ROS-responsive nanoparticles for combating cisplatin-induced ototoxicity
Authors: Gu Jiayi , Wang Xueling , Chen Yuming , Xu Ke , Yu Dehong , Wu Hao 
Published: June 2022

AbstractBackgroundExcessive accumulation of reactive oxygen species (ROS) has been documented as the crucial cellular mechanism of cisplatin-induced ototoxicity. However, numerous antioxidants have failed in clinical studies partly due to inefficient drug delivery to the cochlea. A drug delivery system is an attractive strategy to overcome this drawback.Methods and resultsIn the present study, we proposed the combination of antioxidant astaxanthin (ATX) and ROS-responsive/consuming nanoparticles (PPS-NP) to combat cisplatin-induced ototoxicity. ATX-PPS-NP were constructed by the self-assembly of an amphiphilic hyperbranched polyphosphoester containing thioketal units, which scavenged ROS and disintegrate to release the encapsulated ATX. The ROS-sensitivity was confirmed by1H nuclear magnetic resonance spectroscopy, transmission electron microscopy and an H2O2ON/OFF stimulated model. Enhanced release profiles stimulated by H2O2were verified in artificial perilymph, the HEI-OC1 cell line and guinea pigs. In addition, ATX-PPS-NP efficiently inhibited cisplatin-induced HEI-OC1 cell cytotoxicity and apoptosis compared with ATX or PPS-NP alone, suggesting an enhanced effect of the combination of the natural active compound ATX and ROS-consuming PPS-NP. Moreover, ATX-PPS-NP attenuated outer hair cell losses in cultured organ of Corti. In guinea pigs, NiRe-PPS-NP verified a quick penetration across the round window membrane and ATX-PPS-NP showed protective effect on spiral ganglion neurons, which further attenuated cisplatin-induced moderate hearing loss. Further studies revealed that the protective mechanisms involved decreasing excessive ROS generation, reducing inflammatory chemokine (interleukin-6) release, increasing antioxidant glutathione expression and inhibiting the mitochondrial apoptotic pathway.ConclusionsThus, this ROS-responsive nanoparticle encapsulating ATX has favorable potential in the prevention of cisplatin-induced hearing loss.Graphical Abstract
Association of maternal pre-pregnancy body mass index with birth weight and preterm birth among singletons conceived after frozen-thawed embryo transfer
Authors: Lin Jiaying , Guo Haiyan , Wang Bian , Zhu Qianqian 
Published: June 2022

Abstract
Background
To explore the effect of pre-pregnancy body mass index (BMI) on neonatal outcomes among singletons born after frozen embryo transfer (FET).

Methods
This large retrospective cohort study included 18,683 singleton infants born after FET during the period from Jan 1, 2007 to Dec 31, 2019. The main outcomes were large for gestational age (LGA) and preterm birth. Logistic regression models with generalized estimating equations for clustering by patients to estimate odds ratios of LGA and preterm birth.

Results
Overweight was positively associated with LGA overall (adjusted OR 1.78 [95%CI 1.60-1.98]), and this association was consistent across age categories. The underweight was inversely associated with LGA among mothers younger than 35 years (adjusted OR 0.49 [95%CI 0.39-0.62] among mothers younger than 30 years; adjusted OR 0.47 [95%CI 0.37-0.60] among mothers aged 30-34 years), but this association was no significant among mothers 35 years or older. Overweight was positively and significantly associated with preterm birth overall (adjusted OR 1.52 [95%CI 1.30-1.77]) and consistently across age categories. The underweight mothers younger than 30 years had a decreased risk of preterm birth (adjusted OR 0.70 [95%CI 0.51-0.97]), but the underweight was no significantly associated with preterm birth among women aged 30 years of older.

Conclusions
The risks of LGA and preterm birth were increased in singletons born to overweight mothers, regardless of the maternal age. Underweight decreased the risk of LGA and preterm birth for younger mothers. These findings are important for providing preconceptional counseling to specifically targeted women at high risk of LGA and preterm birth.