bluuebunny/crossref_metadata_2025_split huggingface dataset:
A rare case of anti-LGI1 limbic encephalitis with concomitant positive NMDAR antibodies
Authors: Ji Tuo , Huang Zhi , Lian Yajun , Wang Chengze , Zhang Qiaoman , Li Jinghong 
Published: September 2020

Abstract
Background
N-methyl-D-aspartate receptor (NMDAR) and leucine-rich glioma-inactivated 1 (LGI1) antibodies define the most prevalently recognized autoimmune encephalitis syndromes, while the simultaneous occurrence of both conditions has hardly been published before.

Case presentation
We report the case of a 67-year-old patient who presented with generalized tonic–clonic seizures (GTCS) followed by behavioral changes, psychosis, sleep disorders, decreased consciousness, and faciobrachial dystonic seizures. Ancillary findings included serum hyponatremia and imaging evidence of high-intensity lesions within bilateral medial temporal lobes on T2-weighted fluid attenuation inversion recovery. Both LGI1 and NMDAR antibodies were positive in serum and cerebral spinal fluid using transfected cell based assays. Despite prominent clinical features of anti-LGI1 limbic encephalitis (LGI1-LE), the patient also exhibited overlapping symptoms of anti-NMDAR encephalitis, like early-onset GTCS, which might be related to the concomitant positive NMDAR antibodies.

Conclusions
We report a rare case of LGI1-LE with overlapping symptoms and simultaneous positive NMDAR antibodies. It is necessary to evaluate the presence of NMDAR antibodies in certain LGI1-LE patients with unusual symptoms. However, caution should be exercised in interpreting the observation, given the fact of a single-case study.
First trimester anomaly scan using virtual reality (VR FETUS study): study protocol for a randomized clinical trial
Authors: Pietersma C. S. , Mulders A. G. M. G. J. , Moolenaar L. M. , Hunink M. G. M. , Koning A. H. J. , Willemsen S. P. , Go A. T. J. I. , Steegers E. A. P. , Rousian M. 
Published: September 2020

Abstract
Background
In recent years it has become clear that fetal anomalies can already be detected at the end of the first trimester of pregnancy by two-dimensional (2D) ultrasound. This is why increasingly in developed countries the first trimester anomaly scan is being offered as part of standard care. We have developed a Virtual Reality (VR) approach to improve the diagnostic abilities of 2D ultrasound. Three-dimensional (3D) ultrasound datasets are used in VR assessment, enabling real depth perception and unique interaction. The aim of this study is to investigate whether first trimester 3D VR ultrasound is of additional value in terms of diagnostic accuracy for the detection of fetal anomalies. Health-related quality of life, cost-effectiveness and also the perspective of both patient and ultrasonographer on the 3D VR modality will be studied.

Methods
Women in the first trimester of a high risk pregnancy for a fetus with a congenital anomaly are eligible for inclusion. This is a randomized controlled trial with two intervention arms. The control group receives ‘care as usual’: a second trimester 2D advanced ultrasound examination. The intervention group will undergo an additional first trimester 2D and 3D VR ultrasound examination. Following each examination participants will fill in validated questionnaires evaluating their quality of life and healthcare related expenses. Participants’ and ultrasonographers’ perspectives on the 3D VR ultrasound will be surveyed. The primary outcome will be the detection of fetal anomalies. The additional first trimester 3D VR ultrasound examination will be compared to ‘care as usual’. Neonatal or histopathological examinations are considered the gold standard for the detection of congenital anomalies. To reach statistical significance and 80% power with a detection rate of 65% for second trimester ultrasound examination and 70% for the combined detection of first trimester 3D VR and second trimester ultrasound examination, a sample size of 2800 participants is needed.

Discussion
First trimester 3D VR detection of fetal anomalies may improve patients’ quality of life through reassurance or earlier identification of malformations. Results of this study will provide policymakers and healthcare professionals with the highest level of evidence for cost-effectiveness of first trimester ultrasound using a 3D VR approach.

Trial registration
Dutch Trial Registration number NTR6309, date of registration 26 January 2017.
Measurement of maternal functioning during pregnancy and postpartum: findings from the cross-sectional WHO pilot study in Jamaica, Kenya, and Malawi
Authors: Cresswell Jenny A. , Barbour Kelli D. , Chou Doris , McCaw-Binns Affette , Filippi Veronique , Cecatti Jose Guilherme , Barreix Maria , Petzold Max , Kostanjsek Nenad , Cottler-Casanova Sara , Say Lale 
Published: September 2020

Abstract
Background
The World Health Organization’s definition of maternal morbidity refers to “a negative impact on the woman’s wellbeing and/or functioning”. Many studies have documented the, mostly negative, effects of maternal ill-health on functioning. Although conceptually important, measurement of functioning remains underdeveloped, and the best way to measure functioning in pregnant and postpartum populations is unknown.

Methods
A cross-sectional study among women presenting for antenatal (N = 750) and postpartum (N = 740) care in Jamaica, Kenya and Malawi took place in 2015–2016. Functioning was measured through the World Health Organization Disability Assessment Schedule (WHODAS-12). Data on health conditions and socio-demographic characteristics were collected through structured interview, medical record review, and clinical examination. This paper presents descriptive data on the distribution of functioning status among pregnant and postpartum women and examines the relationship between functioning and health conditions.

Results
Women attending antenatal care had a lower level of functioning than those attending postpartum care. Women with a health condition or associated demographic risk factor were more likely to have a lower level of functioning than those with no health condition. However, the absolute difference in functioning scores typically remained modest.

Conclusions
Functioning is an important concept which integrates a woman-centered approach to examining how a health condition affects her life, and ultimately her return to functioning after delivery. However, the WHODAS-12 may not be the optimal tool for use in this population and additional components to capture pregnancy-specific issues may be needed. Challenges remain in how to integrate functioning outcomes into routine maternal healthcare at-scale and across diverse settings.
Bayesian copy number detection and association in large-scale studies
Authors: Cristiano Stephen , McKean David , Carey Jacob , Bracci Paige , Brennan Paul , Chou Michael , Du Mengmeng , Gallinger Steven , Goggins Michael G. , Hassan Manal M. , Hung Rayjean J. , Kurtz Robert C. , Li Donghui , Lu Lingeng , Neale Rachel , Olson Sara , Petersen Gloria , Rabe Kari G. , Fu Jack , Risch Harvey , Rosner Gary L. , Ruczinski Ingo , Klein Alison P. , Scharpf Robert B. 
Published: September 2020

Abstract
Background
Germline copy number variants (CNVs) increase risk for many diseases, yet detection of CNVs and quantifying their contribution to disease risk in large-scale studies is challenging due to biological and technical sources of heterogeneity that vary across the genome within and between samples.

Methods
We developed an approach called CNPBayes to identify latent batch effects in genome-wide association studies involving copy number, to provide probabilistic estimates of integer copy number across the estimated batches, and to fully integrate the copy number uncertainty in the association model for disease.

Results
Applying a hidden Markov model (HMM) to identify CNVs in a large multi-site Pancreatic Cancer Case Control study (PanC4) of 7598 participants, we found CNV inference was highly sensitive to technical noise that varied appreciably among participants. Applying CNPBayes to this dataset, we found that the major sources of technical variation were linked to sample processing by the centralized laboratory and not the individual study sites. Modeling the latent batch effects at each CNV region hierarchically, we developed probabilistic estimates of copy number that were directly incorporated in a Bayesian regression model for pancreatic cancer risk. Candidate associations aided by this approach include deletions of 8q24 near regulatory elements of the tumor oncogene MYC and of Tumor Suppressor Candidate 3 (TUSC3).

Conclusions
Laboratory effects may not account for the major sources of technical variation in genome-wide association studies. This study provides a robust Bayesian inferential framework for identifying latent batch effects, estimating copy number, and evaluating the role of copy number in heritable diseases.
Identification of a novel subgroup of endometrial cancer patients with loss of thyroid hormone receptor beta expression and improved survival
Authors: Piqué Daniel G. , Greally John M. , Mar Jessica C. 
Published: September 2020

AbstractBackgroundEndometrial cancer (EC) is the most common gynecologic cancer in women, and the incidence of EC has increased by about 1% per year in the U. S over the last 10 years. Although 5-year survival rates for early-stage EC are around 80%, certain subtypes of EC that lose nuclear hormone receptor (NHR) expression are associated with poor survival rates. For example, estrogen receptor (ER)-negative EC typically harbors a worse prognosis compared to ER-positive EC. The molecular basis for the loss of NHR expression in endometrial tumors and its contribution to poor survival is largely unknown. Furthermore, there are no tools to systematically identify tumors that lose NHR mRNA expression relative to normal tissue. The development of such an approach could identify sets of NHR-based biomarkers for classifying patients into subgroups with poor survival outcomes.MethodsHere, a new computational method, termedreceptLoss, was developed for identifying NHR expression loss in endometrial cancer relative to adjacent normal tissue. When applied to gene expression data from The Cancer Genome Atlas (TCGA),receptLossidentified 6 NHRs that were highly expressed in normal tissue and exhibited expression loss in a subset of endometrial tumors.ResultsThree of the six identified NHRs – estrogen, progesterone, and androgen receptors – that are known to lose expression in ECs were correctly identified byreceptLoss. Additionally, a novel association was found between thyroid hormone receptor beta (THRB) expression loss, increased expression of miRNA-146a, and increased rates of 5-year survival in the EC TCGA patient cohort.THRBexpression loss occurs independently of estrogen and progesterone expression loss, suggesting the discovery of a distinct, clinically-relevant molecular subgroup.ConclusionReceptLossis a novel, open-source software tool to systematically identify NHR expression loss in cancer. The application ofreceptLossto endometrial cancer gene expression data identifiedTHRB, a previously undescribed biomarker of survival in endometrial cancer. ApplyingreceptLossto expression data from additional cancer types could lead to the development of biomarkers of disease progression for patients with any other tumor type.ReceptLosscan be applied to expression data from additional cancer types with the goal of identifying biomarkers of differential survival.
Magnitude and associated factors of VIA positive test results for cervical cancer screening among refugee women aged 25–49 years in North Ethiopia
Authors: Hailemariam Gebretsadik , Gebreyesus Hailay , Wubayehu Tewolde , Gebregyorgis Tsgehana , Gebrecherkos Kidanemariam , Teweldemedhin Mebrahtu , Kifle Manaye 
Published: September 2020

Abstract
Background
Worldwide cervical cancer is the third most common malignancy in women. It usually arises from the cervical area which is susceptible to Human Papilloma virus induced malignancy changes. In low-resource setting visual inspection with acetic acid (VIA) is an alternative sensitive cervical screening method. Therefore the aim of this study was to assess the magnitude and associated factors of VIA positive test results for Cervical Cancer screening among Eritrean refugee women aged 25–49 years in northern Ethiopia refugee camps.

Methods
A community based cross-sectional study was conducted among 412 Eritrean refugee women aged 25–49 years from august 10 to September 25, 2018. Study subjects were selected by simple random sampling method. Data were collected using pretested structured questioner through Face-to-face interview and cervical examination. Data were coded and entered to Epi info software version 7 and then exported to Statistical package for Social Science (SPSS) version 21 for analysis. Bivariable and multivariable logistic regression analysis was made to test the association between the independent variables and the outcome variable. P-value of less than 0.05 with 95% CI was considered to declare statistical significance.

Result
In this study the magnitude of VIA positive precancerous cervical lesions was 9% (95% CI: 6.3–11.8%). Previous history of sexually transmitted infections (STI) [AOR (95%CI) = 2.84(1.07–7.53)] and presence of STI during cervical examination [AOR (95%CI) =3.97(1.75–9.00)] were found significantly associated with VIA positive precancerous cervical lesions.

Conclusions
In this study the magnitude of VIA positive precancerous cervical lesions was high. Previous history of sexually transmitted infections (STI) and presence of STI during cervical examination were found associated with VIA positive precancerous cervical lesions. Efforts such as early screening for sexually transmitted disease shall be done to prevent precancerous cervical lesions.
Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco
Authors: Bakkach Joaira , Mansouri Mohamed , Derkaoui Touria , Loudiyi Ali , El Fahime ElMostafa , Barakat Amina , Ghailani Nourouti Naima , Martinez De Villarreal Jaime , Cortijo Bringas Carlos , Bennani Mechita Mohcine 
Published: September 2020

Abstract
Background
To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco.

Methods
Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform.

Results
Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer.

Conclusion
Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.
Lgr5 and stem/progenitor gene expression in gastric/gastroesophageal junction carcinoma – significance of potentially retained stemness
Authors: Yoon Ju-Yoon , Brezden-Masley Christine , Streutker Catherine J. 
Published: September 2020

Abstract
Background
Gastric/gastroesophageal junction (GEJ) adenocarcinomas are heterogeneous, comprising four molecularly distinct subtypes, namely EBV-positive, microsatellite instability (MSI), chromosomal instability (CIN) and genomically stable (GS) subtypes, and a part of this heterogeneity may hypothesized to be different cells-of-origin. Stem/progenitor cell hierarchy in the stomach is complex, which include the Lgr5(+) gastric stem cells (GSCs).

Methods
While previous studies have focused on non-nuclear Lgr5 expression, nuclear Lgr5 expression has been reported in a subset of stem cells, and we examined nuclear Lgr5 expression in a local cohort of 95 cases of gastric/GEJ adenocarcinoma. mRNA levels for LGR5 and other stem cell marker genes were examined in the TCGA cohort.

Results
We observed nuclear Lgr5 expression in a 18/95 cases. Near mutual exclusivity was seen between nuclear Lgr5 and strong non-nuclear Lgr5. Both strong non-nuclear and nuclear Lgr5 expression tended to be seen more frequently with the intestinal histotype and approximated CIN molecular subtype. With respect to overall survival (OS), nuclear Lgr5 expression appears to be protective, with the worst survival being seen in the cases lacking nuclear Lgr5 and with low non-nuclear Lgr5 expression. When compared to other stem/progenitor cell markers, LGR5 mRNA expression clusters with other GSC marker genes, including VIL1. Higher expression of these GSC marker genes was associated with better OS.

Conclusions
Our results show that Lgr5 expression is dynamic in gastric/GEJ adenocarcinoma and heterogeneous across the several disease attributes. We postulate that this may reflect “retained stemness” in the form of Lgr5High-GSC signature that appears to be associated with better survival.
Patient and service-level factors affecting length of inpatient stay in an acute mental health service: a retrospective case cohort study
Authors: Crossley Neil , Sweeney Brian 
Published: September 2020

Abstract
Background
The NHS Mental Health Implementation Plan aims to reduce length of inpatient psychiatric stays to a maximum of 32 days, yet provides little guidance on how to achieve this.
Previous studies have attempted to analyse factors influencing length of stay in mental health units, focussing mostly on patient factors. These models fail to sufficiently explain the variation in duration of inpatient stay. We assess how the type of service delivered by a trust, in addition to patient factors, influences length of stay.

Methods
We conducted a retrospective case cohort study in a large inner-city NHS mental health trust for all admissions in a 1 month period. Data was gathered from electronic notes of 105 patients. Descriptive univariate and bivariate analyses were conducted on the data, with multiple regression analysis conducted on statistically significant data.

Results
Short-stay assessment ward admission significantly reduced length of stay. Patients under outpatients or under care co-ordination, admitted through Mental Health Act assessment and formally detained all had longer length of stay. Out of area admissions, locum Consultant care, changing Responsible Clinician and ward transfers all led to longer length of stay. Factors indicating more severe illness such as increased observation level and polypharmacy, as well as diagnoses of psychosis or bipolar disorder were associated with longer duration of stay. Discharges requiring referral to accommodation or rehabilitation led to longer stays. The most significant factors that influenced length of stay were higher observation levels, diagnosis of psychotic illness or bipolar, and discharge to rehabilitation placement.
The final model, taking into account all these factors, was able to account for 59.6% of the variability in length of stay.

Conclusions
The study backs up existing literature which shows patient-factors have an influence on length of stay. The study also demonstrates that service-level factors have an impact on the duration of stay. This data may be used to inform further studies which may aid provision of inpatient and community services in the future.
Piloting an acceptable and feasible menstrual hygiene products disposal system in urban and rural schools in Bangladesh
Authors: Jahan Farjana , Nuruzzaman Md. , Sultana Farhana , Mahfuz Mehjabin Tishan , Rahman Mahbubur , Akhand Farhana , Luby Stephen P. , Unicomb Leanne , Winch Peter J. 
Published: September 2020

AbstractBackgroundAccess to washroom facilities and a place to dispose of menstrual waste are prerequisites for optimal menstrual hygiene management in schools. Like other low- and middle-income countries, Bangladeshi schools lack facilities for girls to change and dispose of their menstrual absorbents. We explored existing systems for disposing of menstrual absorbent wastes in urban and rural schools of Bangladesh and assessed the feasibility and acceptability of alternative disposal options.MethodsWe explored how girls dispose of their menstrual products, identified girls’ preferences and choices for a disposal system and piloted four disposal options in four different schools. We then implemented one preferred option in four additional schools. We explored girls’, teachers’, and janitors’ perspectives and evaluated the acceptability, feasibility, and potential for sustainability of the piloted disposal system.ResultsBarriers to optimal menstrual hygiene management included lack of functional toilets and private locations for changing menstrual products, and limited options for disposal. Girls, teachers, and janitors preferred and ranked the chute disposal system as their first choice, because it has large capacity (765 L), is relatively durable, requires less maintenance, and will take longer time to fill. During implementation of the chute disposal system in four schools, girls, teachers, and janitors reported positive changes in toilet cleanliness and menstrual products disposal resulting from the intervention.ConclusionsThe chute disposal system for menstrual products is a durable option that does not require frequent emptying or regular maintenance, and is accepted by schoolgirls and janitors alike, and can improve conditions for menstrual hygiene management in schools. However, regular supervision, motivation of girls to correctly dispose of their products, and a long-term maintenance and management plan for the system are necessary.
Understanding public interest and needs in health policies through the application of social network analysis on a governmental Facebook fan page
Authors: Huang Hsiang-Min , Chiu Ching-Ju 
Published: September 2020

Abstract
Background
This study analyzed the interactions between agencies, policies, and the interest of the public using a social network analysis.

Methods
Open data on the 2017 Facebook fan page of the Ministry of Health and Welfare (MoHW) in Taiwan, including 18,193 messages, were analyzed by conducting a social network analysis, NodeXL (Network Overview, Discovery and Exploration for Excel), creating visualized explorations using size volumes to present the degree of strength between agencies and policies to further calculate the network centrality indicators of agencies and policies.

Results
Agencies of the “Social and Family Affairs Administration” and “Health Promotion Administration” contributed the most policy posts. The policy of “Physical and mental health promotion” entailed the most agencies to be involved. The “Department of Nursing and Health Care” received the largest public response, for which “Long-term care” received the most public interest.

Conclusions
A social network analysis of fan page of Taiwan’s top level health government agency can reveal the government’s most emphasized core policies, the strength of correlations between agencies and policies, and provide an understanding of public interest toward the policies.