bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report
Authors: Liu Qing , Liu Mengling , Liu Tianshu , Yu Yiyi 
Published: October 2020

Abstract
Background
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS.

Case presentation
Here, we report a germline heterozygous missense variant (c.299G > A) in exon 3 BMPR1A gene in a family with juvenile polyposis. This variant was absent from the population database, and concluded as de novo compared with the parental sequencing. Further sequencing of the proband’s children confirmed the segregation of this variant with the disease, while the variant was also predicted to have damaging effect based on online prediction tools. Therefore, this variant was classified as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines.

Conclusions
Germline genetic testing revealed a de novo germline missense variant in BMPR1A gene in a family with juvenile polyposis. Identification of the pathogenic variant facilitates the cancer risk management of at-risk family members, and endoscopic surveillance is recommended for mutation carriers.
The prevalence and immunological features of anti-glomerular basement membrane antibody in patients with HIV
Authors: Wang Wen-jing , Jia Xiao-yu , Cui Zhao , Chen Yan , Wang Wei , Lou Jin-li , Zhao Ming-hui , Ying Sun 
Published: October 2020

Abstract
Background
Anti-glomerular basement membrane disease (GBM) is an autoimmune disease caused by the deposition of circulating anti-GBM antibodies. Non-collagen region of α3 chain of type IV collagen (α3(IV)NC1) is one of the main target antigens, in which EA and EB are the most classical antigen epitopes. It has been reported that anti-GBM antibodies can be detected in HIV patients; however, its immunological characteristics are still unclear.

Objectives
In this study, the positive rate of the anti-GBM antibodies in HIV and the immunological characteristics of the target antigens were clarified.

Methods
A total of 93 HIV patients diagnosed in Beijing Youan Hospital from November 2017 to January 2018 were included. Enzyme-linked immunosorbent assay was used to measure the serum IgG autoantibodies specifically against GBM in these patients, as well as their subtypes and antigen spectra.

Results
It was found that five out of the 93 patients with HIV had low to moderate levels of anti-GBM antibodies. However, these patients presented with no clinical manifestation of any kidney injury or pulmonary hemorrhages. Compared with HIV patients with negative antibodies, there were no significant differences in gender, age, CD4+T cell count and HIV viral load. All sera of five patients recognized non-collagenous domain1 (NC1) of alpha 3 chain of type IV collagen [(α3(IV)NC1] as classic anti-GBM patients, followed by α5(IV)NC1. The antibodies against α3(IV)NC1 were IgG3 predominant, while these antibodies did not react with either of the classic epitopes on α3 (EA and EB).

Conclusion
These data suggest a distinct immunological profile of anti-GBM antibodies in patients with HIV, and might explain the non-pathogenic features of HIV associated anti-GBM antibodies.
Room tilt illusion and subclavian steal – a case report
Authors: Arntzen Kathrine , Alstadhaug Karl B. 
Published: October 2020

Abstract
Background
Room tilt illusion (RTI) is a rare symptom of higher vestibular dysfunction, consisting of a transient vertical rotation of the visual scene in the sagittal or coronal plane, most often 90o or 180o, without any alteration in shape, size and color of objects.

Case presentation
A 63-year-old woman with a history of hypertension and chronic obstructive pulmonary disease went through an uncomplicated aortobifemoral graft surgery due to aortoiliac occlusive disease. Post-operatively she experienced five episodes, lasting from 10 to 30 min, with RTI; 90o forward rotation of the visual scene in the sagittal plane. Work-up revealed subclavian steal grade 3, and transient ischemia of the central vestibular system of the brainstem was the presumed mechanism.

Conclusion
The course of episodic RTIs is often benign, but RTI may represent ischemia in the posterior cerebral circulation. Both stroke and otoneurologic workup are recommended. To our knowledge, this is the first case of RTI associated with subclavian steal reported.
Artery of Percheron infarction with persistent amnesia: a case report of bilateral paramedian thalamic syndrome
Authors: Snyder Hannah E. , Ali Sheliza , Sue Joanna , Unsal Ayse , Fong Crystal , Deng Zhihui 
Published: October 2020

Abstract
Background
The artery of Percheron is an uncommon anatomic variant which supplies the bilateral paramedian thalami and rostral midbrain. While infarction of its vascular territory can result in a wide range of symptoms, paramedian thalamic syndrome is classically described as a triad of symptoms including vertical gaze disturbances, fluctuating level of consciousness, and amnesia. There is minimal evidence to date to characterize the long-term cognitive consequences of infarction of the artery of Percheron utilizing neuropsychological assessment.

Case presentation
We describe a 40-year-old female patient initially presenting with dizziness, confusion and falls with unremarkable head CT scans. Subsequent MRI, more than 24 h after symptom onset, identified evidence of bilateral thalamic and rostral midbrain infarction. Neuropsychological testing was administered at 4 months post-stroke, with follow up testing at 1 year. The patient was found to have profound anterograde and retrograde amnesia, which did not change significantly over the first year of rehabilitation, and which was not easily identifiable in everyday encounters due to her relatively intact working memory and social skills.

Conclusions
As early diagnosis of infarction of the artery of Percheron is challenging, patients have frequently missed the time window for acute management of ischemic stroke. Moreover, this case study highlights the need for further research in deciphering the role of the paramedian thalamus in memory and cognition, as well as the importance of standardized neuropsychological testing for the artery of Percheron stroke patients to identify safety and rehabilitation concerns that may be overlooked.
Eliciting women’s preference for prenatal testing in China: a discrete choice experiment
Authors: Wu Liangzhi , Wu Yanxin , Zou Shiqian , Sun Cong , Chen Junyu , Li Xueyan , Lin Zihang , Guan Lizhi , Zeng Qing , Zhao Sihan , Liang Jingtong , Chen Rui , Hu Zhiwen , Au Kingyan , Xie Daipeng , Xiao Xiaomin , Ming Wai-kit 
Published: October 2020

Abstract
Background
Pregnancy tests can be used for the early diagnosis of fetal problems and can prevent abnormal birth in pregnancies. Yet, testing preferences among Chinese women are poorly investigated.

Methods
We developed a Discrete Choice Experiment with 5 attributes: test procedure, detection rate, miscarriage rate, time to wait for result, and test cost. By studying the choices that the women make in the hypothetical scenarios and comparing the attributes and levels, we can analyze the women’s preference of prenatal testing in China.

Results
Ninety-two women completed the study. Respondents considered the test procedure as the most important attribute, followed by detection rate, miscarriage rate, wait time for result, and test cost, respectively. The estimated preference weight for the non-invasive procedure was 0.928 (P < 0.0001). All other attributes being equal, the odds of choosing a non-invasive testing procedure over an invasive one was 2.53 (95% confidence interval, 2.42–2.64; P < 0.001). Participants were willing to pay up to RMB$28,810 (approximately US$4610) for a non-invasive test, RMB$6061(US$970) to reduce the miscarriage rate by 1% and up to RMB$3356 (US$537) to increase the detection rate by 1%. Compared to other DCE (Discrete Choice Experiment) studies regarding Down’s syndrome screening, women in our study place relatively less emphasis on test safety.

Conclusions
The present study has shown that Chinese women place more emphasis on detection rate than test safety. Chinese women place great preference on noninvasive prenatal testing, which indicate a popular need of incorporating noninvasive prenatal testing into the health insurance coverage in China. This study provided valuable evidence for the decision makers in the Chinese government.
Low birthweight of children is positively associated with mother’s prenatal tobacco smoke exposure in Shanghai: a cross-sectional study
Authors: Wang Ruiping , Sun Ting , Yang Qiong , Yang Qing , Wang Jian , Li Huan , Tang Yue , Yang Liang , Sun Jie 
Published: October 2020

Abstract
Introduction
Low birthweight (LBW) is a significant public health issue, and maternal smoking is the most prevalent preventable cause of LBW. But there is limited evidence on association of LBW among children and cigarette smoke exposure in mothers in China. In this cross-sectional study, we try to explore if the LBW in children is positively associated with mothers’ prenatal cigarette smoke exposure.

Methods
We selected 8, 586 mothers and their singleton children in 2018 in Songjiang district, Shanghai. Birthweight of children and gestational weeks of mother was identified by birth records in the hospital, we classified mothers’ prenatal cigarette smoke status into the first-hand smoke (FHS) exposure and the second-hand smoke (SHS) exposure. We use SAS 9.1.3 software to calculate the prevalence of children’s LBW and the prevalence of mothers’ prenatal cigarette smoke exposure including FHS and SHS. Chi-square test and logistic regression were used to analyze the difference.

Results
In 8, 586 women, The prenatal FHS and SHS exposure prevalence was 0.9 and 20.8%, respectively. The mean birthweight of children was 3315.5 g with a standard deviation of 497.2 g, the mean birthweight was 167.7 g and 66.1 g lower in children born to mothers with prenatally FHS and SHS exposure compared with those children whose mother were not exposed, respectively. The children’s LBW prevalence was 4.7% in this study. By comparing with children whose mother were not exposed, the LBW prevalence was higher among children whose mother were prenatally exposed to FHS [OR (Odds Ratios) = 2.91, 95% confidence interval (CI) (1.49, 5.68)], and SHS [OR = 2.35, 95% CI (1.90, 2.89)].

Conclusions
Children’s LBW is positively associated with mothers’ prenatal tobacco smoke exposure both for FHS and SHS. So implementing tobacco control measures is crucial to lower smoking prevalence among women, and decrease smoking prevalence of their family members as well as work fellows.
Role of a multidisciplinary team in administering radiotherapy for esophageal cancer
Authors: Zhao Shengguang , Qi Weixiang , Chen Jiayi 
Published: October 2020

Abstract
Background
Radiotherapy (RT) is the major part of the treatment strategy set by a multidisciplinary team (MDT) for patients diagnosed with esophageal cancer (EC). The effect of an MDT collaboration on patients with EC who underwent RT is unclear.

Methods
We retrospectively collected all patients diagnosed with EC in the radiation oncology department at our institution from January 2015 to May 2017. The patients were divided into groups based on if they had their cases presented or not presented at the MDT meeting (with MDT and non-MDT, respectively). Propensity score matching (PSM) was applied at a ratio of 1:1 and the nearest neighbor matching method to compare the two groups.

Results
A total of 212 consecutive patients were analyzed, including 157 with MDT and 55 non-MDT. In the unmatched population, the patients with MDT were more likely to received chemotherapy than the non-MDT patients (84.7% vs. 69.1%; × 2 = 6.373; P = 0.012).MDT-patients had significantly improved overall survival compared with non-MDT patients (p = 0.025). In the multivariate analysis, MDT was an independent prognostic factor for OS in patients with EC who underwent RT (P = 0.019, HR 0.59, 95% CI 0.38–0.92). After PSM for baseline characteristics, the benefit of MDT for OS became more obvious. Additionally, we also found that MDT was an independent predictor of receiving chemotherapy by using logistic regression analysis.

Conclusion
In patients who underwent radiotherapy for esophageal cancer, MDT was an independent factor for overall survival, which probably due to the selection of multimodality treatment when compared to non-MDT setting.
Retinal laser services in Bhutan: a 3-year national survey
Authors: Rai Bhim B. , Morley Michael G. , Zangmo Pema , Tshering Thukten , Khatiwara Abi N. , Bernstein Paul S. , Maddess Ted 
Published: October 2020

Abstract
Background
We conducted this study to report on the indications and types of retinal laser therapy (RLT) performed in Bhutan, knowing which is critical for proper planning and successful delivery of the services.

Methods
We reviewed the laser registers maintained in the laser rooms and vitreoretinal (VR) operating theatres (including paediatric cases managed under anaesthesia) over three years at the national and the two regional referral hospitals (RRHs). Intraoperative laser treatments (endolaser) were excluded. Patient demography, indications and types of RLT were recorded and quantified. Comparisons of the expected and observed frequencies used Chi-squared tests.

Results
A total of 685 patients, including 8 cases of bilateral retinopathy of prematurity (ROP) received RLT. The majority of patients (411 cases, 60.0%, p < 0.0001) were males. The mean age was 54.1 ± 14.1 years, median 56 years. The most common indications for RLT were diabetic retinopathy (DR) and diabetic macular oedema (DMO) (542 cases, 66.0%), followed by retinal vein occlusion (RVO) (91 cases, 13.3%). Pan-retinal photocoagulation was the most common type of RLT performed (337 cases, 49.2%), followed by modified grid laser (207 cases, 30.2%), sectoral laser (41 cases, 6.0%), and prophylactic laser photocoagulation (33 cases, 4.8%).

Conclusions
The majority of patients were within working-age. Common indications for RLT were preventable such as DR, DMO and RVO, indicating need to control systemic diseases such as diabetes, hypertension, and dyslipidaemia. Currently, regular RLT is provided only at the national referral hospital in Thimphu, and periodically in the eastern and central RRHs when the retinal specialist visits. There is need to extend the retinal services to the eastern and central RRHs to improve accessibility and patient coverage in these regions challenged with difficult terrain and poor public transport system.
Treating suicidal ideation in the context of depression
Authors: Schneider Renee A. , Chen Shih Yin , Lungu Anita , Grasso Joseph R. 
Published: October 2020

Abstract
Background
Treatment recommendations suggest that suicidal ideation will decrease following successful psychotherapy for depression. However, findings from the empirical research are equivocal in this regard. It is possible suicidal ideation does not respond to empirically supported treatment (EST) for depression or that suicidal ideation limits the efficacy of ESTs for depression.

Methods
Data from 793 patients who sought EST for depression was analyzed using t-tests and multiple linear regression.

Results
Both patients with (n = 233) or without suicidal ideation (n = 560) were significantly less depressed following treatment. A significant reduction in suicidal ideation was also observed. At baseline, 233 (29.4%) patients reported suicidal ideation, whereas only 90 (11.3%) patients reported suicidal ideation at follow-up. The relationship between suicidal ideation at baseline and depression scores at follow-up was not significant.

Conclusions
Patients with suicidal ideation who receive short-term EST can experience significant reductions in both depressive symptoms and suicidal ideation. Findings suggest that suicidal ideation at baseline does not impact treatment efficacy, but additional research that directly tests moderation is needed.
Screening for depressive symptoms in cardiovascular patients at a tertiary centre in Trinidad and Tobago: investigation of correlates in the SAD CAT study
Authors: Seecheran Naveen , Jagdeo Cathy-Lee , Seecheran Rajeev , Seecheran Valmiki , Persad Sangeeta , Peram Lakshmipatty , Evans Matthew , Edwards Justine , Thackoorcharan Sheri , Davis Britney , Davis Shari , Dawkins Barbrianna , Dayaram Anisha , De Freitas Michelle , Deonarinesingh Tsarina , Dhanai Jiovanna , Didier Cherelle , Motilal Shastri , Baboolal Nelleen 
Published: October 2020

Abstract
Background
This study aimed to screen cardiovascular patients for depressive symptoms at a tertiary centre in Trinidad and Tobago; and to determine any significant associations amongst patients’ demographics, comorbidities, and cardiovascular medications with depressive symptoms.

Methods
In this observational, cross-sectional study, patients (n = 1203) were randomly selected from the cardiology outpatient clinics at the Eric Williams Medical Sciences Complex. After meeting selection criteria, informed consent was obtained, and patients were administered a case report form, which included the Patient Health Questionnaire-9 (PHQ-9). Descriptive analyses included frequency, percentage and summary statistics. Inferential analyses included 95% confidence intervals (CIs), independent sample t-test, Fisher’s exact test, Chi-square test, and multivariate logistic regression.

Results
The study had a 96% respondent rate, whereby the average age was 62 years old. Slightly less than half were male, and 52.5% were female. Over 90 % of the sample had cardiovascular disease (CVD). One-quarter of the sample had a PHQ-9 score of ≥10, with almost one-fifth having no depressive symptoms. Females, lower levels of education and income were all found to be statistically significant at risk for depressive symptoms (all p-values < 0.001). Comorbidities associated with depressive symptoms included hypertension, prior cerebrovascular events, chronic kidney disease, and chronic obstructive pulmonary disease with odds ratios (ORs) and 95% confidence intervals (CIs) of OR 1.988 (CI 1.414–2.797), OR 1.847 (CI 1.251–2.728), OR 1.872 (CI 1.207–2.902) and OR 1.703 (CI 1.009–2.876) respectively. Only the cardiovascular medication of ticagrelor was found to be significantly associated with depressive symptoms (p-value < 0.001).

Conclusions
Twenty-five percent of screened cardiovascular patients displayed significant depressive symptoms with a PHQ-9 ≥ 10. This study also highlights the importance of implementing a multidisciplinary approach to managing cardiovascular disease and screening for depressive symptoms in this subpopulation. Further studies are required to validate these findings.

Trial Registration
ClinicalTrials.gov number, NCT03863262. This trial was retrospectively registered on 20th February 2019.
E-cigarettes use in the United States: reasons for use, perceptions, and effects on health
Authors: Sapru Sakshi , Vardhan Mridula , Li Qianhao , Guo Yuqi , Li Xin , Saxena Deepak 
Published: October 2020

Abstract
Background
Many researchers claim electronic cigarettes (e-cigarettes) to be a breakthrough invention for tobacco users that aspires to curb their addiction to conventional cigarettes. Claimed to be safer by their promoters, these smokeless devices have become increasingly popular since their arrival on the market among users of all ages, especially adolescents. This paper investigated the trends in e-cigarette usage since the time it arrived in the United States, highlighting the highest surge that has occurred in adolescent e-cigarette use. It also aimed to understand the reasons and perceptions behind the ever-increasing use of e-cigarettes by adolescents.

Main body
With the advent of e-cigarettes and common positive perceptions regarding their use, we are at risk of reversing the years of efforts regarding tobacco control and instead advance towards a new addiction with currently unknown long-term health hazards. There is substantial data showing a significant increase of e-cigarette users in the United States, especially among adolescents. The aim of this review was to explore the reasons behind this widespread increase in the use of e-cigarettes among the teenage population in the US and also to uncover the common perceptions about these new electronic delivery systems. In addition, this review attempted to summarize health benefits and hazards associated with e-cigarette use as it crucial to have the right information among its users regarding the health effects of e-cigarette use.

Conclusion
E-cigarettes are more appealing than c-cigarettes for a variety of reasons, including cost, choice of different flavors, ease of accessibility, and use and impact of social media. There are also different perceptions among e-cigarette users, including both adolescents and adults. The former group may use them because of the sense of fashion associated with this novel device, and the latter might intend to quit conventional/combustible cigarettes (c-cigarettes) by switching to e-cigarettes. However, it is important to note that e-cigarettes are a recent phenomenon; therefore, there is a lack of many long-term studies that can identify future health risks associated with e-cigarette use. We need more detailed studies that focus on the long-term health effects of e-cigarette use. Moreover, with the ever-increasing usage of e-cigarettes by adolescents (10 and 19 years), it is very important that e-cigarettes be incorporated into the current tobacco-free laws and ordinances. We conclude by stating that e-cigarettes need stronger regulations to prevent youth access and use.