bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
Authors: Ye Panpan , Xu Jia , Luo Yueqiu , Su Zhitao , yao ke 
Published: December 2019

Abstract
BackgroundAutosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB.MethodsOphthalmic examinations were performed on the affected patients with ARB. The proband was screened for potential causative mutations in a panel with 256 known retinal disease genes by using target capture sequencing. The related mutation was further validated and segregated in the family members by Sanger sequencing. In silico prediction tools were used for pathogenicity assessment. A UHPLC-MS/MS metabolomic analysis was performed to explore the disease-associated metabolic feature.ResultsThe affected patients from this family were characterized by low vision, the presence of subretinal fluid, macular edema, and hyperopia with coincidental angle closure. DNA sequencing identified a novel missense mutation in the BEST1 gene c.646G>A (p.Val216Ile) of the proband. Sanger sequencing further confirmed the mutation. The missense mutation was co-segregation across the pedigree and predicted to be deleterious by SIFT (0.017). The blood metabolic profiles were highly similar among all family members probably because of the same lifestyle, habitat and genomic background. However, ARB patients presented a significant deregulation of metabolites, such as citric acid, L-Threonic acid, and eicosapentaenoic acid.ConclusionsWe identified a novel disease-associated variant in the BEST1 gene as well as a disease-specific metabolic feature in familial ARB. Our findings helped improve the understanding of ARB mechanisms.
The Oxidoreductase DsbA1 negatively influences 2,4-diacetylphloroglucinol biosynthesis by interfering the function of Gcd in Pseudomonas fluorescens 2P24
Authors: Zhang Bo , Zhao Hui , Wu Xiaogang , Zhang Li-Qun 
Published: December 2019

Abstract
The polyketide antibiotic 2,4-diacetylphloroglucinol (2,4-DAPG), produced by Pseudomonas fluorescens 2P24, is positively regulated by the GacS-GacA two-component system. Here we reported on the characterization of DsbA1 (disulfide oxidoreductase) as novel regulator of biocontrol activity in P. fluorescens . Our data showed that mutation of dsbA1 caused the accumulation of 2,4-DAPG in a GacA-independent manner. Further analysis indicated that DsbA1 interacts with membrane-bound glucose dehydrogenase Gcd, which positively regulates the production of 2,4-DAPG. Mutation of cysteine (C)-235, C275, and C578 of Gcd, significantly reduced the interaction with DsbA1, enhanced the activity of Gcd and increased 2,4-DAPG production. Taken together, our results suggest that DsbA1 regulates the 2,4-DAPG concentration via fine-tuning the function of Gcd in P. fluorescens 2P24.
Association Between Dietary Consumption, Anthropometric Measures And Body Composition Of Rural And Urban Ghanaian Adults; A Comparative Cross Sectional Study.
Authors: Agyapong Nana Ama Frimpomaa , Annan Reginald Adjetey , Apprey Charles , Aduku Linda Nana Esi , Swart Catherina Elizabeth 
Published: December 2019

Abstract
Background: Overweight and obesity have become threats to public health in all regions across the globe. Policies to regulate the food environment and promote healthy food consumption can reduce the prevalence obesity but in Ghana there is not enough data to elicit a policy response. This study assessed the association between dietary consumption, anthropometric measures, body composition and physical activity among rural and urban Ghanaian adults. Methods: This was a cross-sectional study involving 565 Ghanaian adults. Structured questionnaires were used to collect socio-demographic information. Dietary consumption was assessed using household food frequency questionnaire and 24-hour recall. Height, weight, BMI, waist circumference and body composition of all participants were also measured. The World Health Organization’s Global Physical Activity Questionnaire (GPAQ) was used to assess physical activity levels. Mann Whitney U test was used to analyze differences in anthropometric measurements, body composition and dietary consumption among rural and urban participants. Principal component analysis was used to analyze household food frequency data and nutrient analysis template was used to analyze 24-hour recall. Chi-square was used to measure differences in obesity prevalence by community and gender. Multinomial logistic regression was used to model the risk factors associated with obesity. Results: The prevalence of overweight and obesity using BMI were 29.9 and 22.9 respectively. The use of waist circumference measurement resulted in the highest overall obesity prevalence of 41.5%. Prevalence of obesity was higher among females compared to males across all measures with the exception of visceral fat that showed no significant difference. Four different patterns were derived from principal component analysis. Among urban participants, component 3 (staple pattern) showed a significant negative correlation with visceral fat (r -0.186, p-value 0.013) and BMI (r -0.163, p-value 0.029). Multinomial logistic regression showed that males (AOR 19.715, CI 9.723-39.978, p-value < 0.001) had higher odds of being of normal weight compared to females. Conclusion: Prevalence of overweight and obesity continue to rise in Ghana, especially among females. Public education and screening as well as interventions that regulate the food environment and make affordable and available healthy food options are needed to control the rise in obesity prevalence.
Cytological evidence of BSD2 functioning in both chloroplast division and dimorphic chloroplast formation in maize leave
Authors: Li Heying , Bai Mei , Jiang Xingshan , Shen Rongxin , Wang Huina , Wang Haiyang , Wu Hong 
Published: December 2019

Abstract
Background: Maize bsd2 (bundle sheath defective2) is a classical C4 mutant with defective C4 photosynthesis, accompanied with reduced accumulation of Rubisco (ribulose bisphosphate carboxylase oxygenase) and aberrant mature chloroplast morphology in the bundle sheath (BS) cells. However, as a hypothetical chloroplast chaperone, the effects of BSD2 on C4 chloroplast development have not been fully examined yet, which precludes a full appreciation of BSD2 function in C4 photosynthesis. The aims of our study are to find out the role of BSD2 in regulating chloroplasts development in maize leaves, and to add new insights into our understanding of C4 biology.
Results: We found that at the chloroplast maturation stage, the thylakoid membranes of chloroplasts in the BS and mesophyll (M) cells became significantly looser, and the grana of chloroplasts in the M cells became thinner stacking in the bsd2 mutant when compared with the wild type plant. Moreover, at the early chloroplast development stage, the number of dividing chloroplasts and the chloroplast division rate are both reduced in the bsd2 mutant, compared with wild type. Quantitative reverse transcriptase-PCR analysis revealed that the expression of both thylakoid formation-related genes and chloroplast division-related genes is significantly reduced in the bsd2 mutants. Further, we showed that BSD2 interacts physically with the large submit of Rubisco (LS) in Bimolecular Fluorescence Complementation assay.

Conclusions: Our combined results suggest that BSD2 plays an essential role in regulating the division and differentiation of the dimorphic BS and M chloroplasts, and that it acts at a post-transcriptional level to regulate LS stability or assembly of Rubisco.
Trabecular bone scores in young HIV-infected men: a matched case-control study
Authors: Kim Youn Jeong , Kang Kwi Young , Shin Juyoung , Jun Yoonhee , Kim Sang Il , Ree Kim Yang 
Published: December 2019

Abstract
Background Screening for osteoporosis with dual-energy X-ray absorptiometry (DXA) is recommended for male HIV-infected patients only above the age of 50. Recently, trabecular bone score (TBS) has been introduced as a novel tool to assess bone microarchitecture using DXA of the lumbar spine. Few studies have reported TBS values in HIV-infected individuals younger than 50 years of age. This study compared TBS values in young males infected with HIV and matched controls, and investigated the associations between TBS and demographic parameters, clinical parameters, and bone mineral density (BMD) scores. Methods A cross-sectional study of BMD and TBS in HIV-infected men (n = 80) aged between 18 and 50 years and age- and sex-matched controls (n = 80) was conducted. Results The proportion of patients with low BMD (Z-score ≤−2) was significantly greater among HIV-infected patients than among matched controls (21.3% [17/80] vs. 8.8% [7/80], p = 0.027). Mean TBS values were significantly lower in HIV-infected patients than in controls (1.41 ± 0.07 vs. 1.45 ± 0.07, p = 0.008). In both groups, TBS values were positively correlated with BMD at the lumbar spine, femoral neck, and total hip (p < 0.001); however, TBS was not correlated with body mass index. In the HIV group, TBS was negatively correlated with the duration of tenofovir disoproxil fumarate(TDF) exposure (p = 0.04). Conclusion Young men infected with HIV had abnormal bone trabecular microarchitecture, as assessed by both TBS and BMD. TBS values were correlated with both BMD and the duration of TDF exposure.
Semi-constrained posterior stabilized total knee arthroplasty reproduces natural deep knee bending kinematics
Authors: Sumino Takanobu , Tomita Tetsuya , Sugamoto Kazuomi , Yamazaki Takaharu , Okazaki Ken 
Published: December 2019

Abstract
Background: The Flexible Nichidai Knee Posterior Stabilized (FNK-PS) system was designed to provide relatively high varus-valgus stabilities without the stem extensions to patients with severe knee joint disorders. This is a combination of a large tibial post and high femoral cam adapted to a PS system. The aim of our study was to analyze the in vivo two-dimensional/three-dimensional registration kinematics of the FNK PS-total knee arthroplasty (TKA) system during deep knee bending.
Methods: Nineteen knees from 15 total knee arthroplasty (TKA) patients who were able to squat with enough knee flexion were selected. During deep knee bending under weight bearing (WB) and non-weight bearing (NWB) conditions, we quantified range of motion, axial rotation, femoral anteroposterior translation, and post-cam engagement angle.
Results: The maximum-flexion was significantly different between the two conditions. The mean axial femoral external rotation was 4.8° and 6.2° under WB and NWB conditions, respectively, at 120° flexion. Anteroposterior translation based on bicondylar posterior roll-back patterns was noted with increasing knee flexion. Both the medial and lateral femoral aspects were significantly more posterior during early to mid-flexion. Initial post-cam engagement occurred significantly earlier during flexion under NWB than under WB conditions. Under WB, the timing of the post-cam engagement correlated with the maximum flexion .
Conclusions: The kinematics of the semi-constrained PS system reproducibly exhibited a mild external rotation with smooth posterior roll-back. This was assisted by the engagement of the large tibial post and high femoral cam during the early phase of flexion.
Potential consequences of expanded MUAC-only programs on targeting of acutely malnourished children and ready-to-use-therapeutic-food allocation: lessons from cross-sectional surveys
Authors: Guesdon Benjamin , Couture Alexia , Pantchova Danka , Bilukha Oleg 
Published: December 2019

Abstract
Background: Some of the recently piloted innovative approaches for the management of acute malnutrition in children use the “expanded MUAC-only” approach, with Mid Upper Arm Circumference (MUAC) <125mm as the sole anthropometric criterion for screening and admission, classification of cases as severe using the 115mm cut-off, and use Ready-to-Use-Therapeutic-Food (RUTF) for the management of both moderate (MAM) and severe (SAM) cases of acute malnutrition. Our study aimed at exploring the potential consequences of this “expanded MUAC-only” program scenario on the eligibility for treatment and RUTF allocation, as compared with the existing WHO normative guidance.

Methods: We analyzed data from 550 population representative cross-sectional cluster surveys conducted since 2007. We retrieved all children classified as SAM and MAM according to currently used case definitions, and calculated the proportions of SAM children who would be excluded from treatment, misclassified as MAM, or whose specific risks (because of having both MUAC and weight-for height deficits) would be ignored. We also analyzed the expected changes in the number and demographics (sex, age) of children meant to receive RUTF according to the new approach.

Results: We found that approximately one quarter of SAM children would not be detected and eligible for treatment under the “expanded MUAC-only” scenario, and another 20% would be classified as MAM. A further 17% of the total SAM children would be admitted and followed only according to their MUAC or oedema status, while they also present with a severe weight-for height deficit on admission. Considering MAM targeting, about half of the MAM children would be left undetected. This scenario also shows a 2.5 time increase in the number of children targeted with RUTF, with approximately 70% of MAM and 30% of SAM cases among this new RUTF target.

Conclusions: This empirical evidence suggests that adoption of “expanded MUAC-only” programs would likely lead to a priori exclusion from treatment or misclassifying as MAM a large proportion of SAM cases, while redirecting programmatic costs in favor of those less in need. It underscores the need to explore other options for improving the impact of programs addressing the needs of acutely malnourished children.
Hospitalizations for viral respiratory infections in children under 2 years of age: epidemiology and in-hospital complications
Authors: Zurita-Cruz Jessie , Gutierrez-Gonzalez Alejandro , Manuel-Apolinar Leticia , Fernández-Gárate José Esteban , Arellano-Flores María Luisa , Eng Roberto Alejandro Correa Gonzalez , Vazquez-Rosales Guillermo , Sanchez-Armas Rocio , Cisneros Nelly 
Published: December 2019

Abstract
Background Viral respiratory infection (VRI) is a frequent cause of hospitalization in children under 24 months of age. Prematurity or heart disease histories may be risk factors for complications in patients hospitalized for VRI.Objective To describe the epidemiological data of pediatric patients 1 to 24 months of age who were hospitalized for VRI and identify risk factors for the presence of in-hospital complications over a period of 5 years.Methods This was a cross-sectional study. The database was compiled by doctors, electronically validated by engineers and analyzed by statisticians. Patients with VRI (based on International Classification of Diseases [ICD-10] codes B974, J12, J120-J129X, J168, J17, J171, J178, J20, J203-J209, J21, J210, J211, J218, J219, J22X, and J189) from 2013 to 2017 were registered. The patients were classified into 2 groups according to the absence or presence of a history of prematurity (P070, P072, P073), bronchopulmonary dysplasia (BPD) (P271) and congenital heart disease (CHD) (Q20-Q26). Length of hospital stay, in-hospital complications, surgical procedures and mortality were analyzed.Statistical analysis The prevalence of hospitalization for VRI was described. For comparisons between the groups, Student's t-tests and chi 2 tests were applied. To identify the factors related to in-hospital complications and mortality, a logistic regression model was constructed.Results A total of 69,093 hospitalizations were reported. The average age of patients was 14.17 weeks. The number of hospitalization events in winter was the highest (38.9%), followed by autumn (27.3%). A total of 408 (0.59%) patients died. A total of 7,496 hospitalized patients with comorbidities were identified. Surgical procedures (OR = 16.66 & 16.64) and comorbidities (OR = 4.29 & 4.58) were risk factors for in-hospital complications and mortality.Conclusions The risk factors for morbidity and mortality in patients hospitalized for VRI were a history of prematurity, BPD and CHD, as well as some type of surgical procedure during hospitalization.
CircRNA_0058063 functions as a ceRNA in bladder cancer progression via targeting miR-486-3p/FOXP4 axis
Authors: Liang Haote , Huang Hang , Li Yeping , Lu Yongyong , Ye Tingyu 
Published: December 2019

Abstract
Emerging evidences have uncovered critical regulatory roles of circular RNAs (circRNAs) function as dynamic scaffolding molecules in tumorigenesis and progression. However, the aberrant expression and clinical significance of hsa_circ_0058063 (circRNA_0058063) in bladder cancer (BC) remain poorly understood. circRNA expression was analyzed via a microarray in cancerous tissue and non-carcinoma tissues. Luciferase reporter assays and RNA immunoprecipitation (RIP) were both conducted to uncover the function of circRNA_0058063 in BC. circRNA_0058063 was overexpressed in BC tissues compared to adjacent normal tissues. Knockdown of circRNA_0058063 dramatically decreased cell proliferation and invasion, and promoted apoptosis in 5637 and BIU-87 cell lines. Furthermore, mechanistic investigations showed that circRNA_0058063 and FOXP4 could directly bind to miR-486-3p, demonstrating that circRNA_0058063 regulated FOXP4 expression by competitively binding to miR-486-3p. Taken together, circRNA_0058063 functions by sponging miR-486-3p in BC progression, which could be act as a new biomarker and further developed to be a therapeutic target in BC.
Value of digital mammography in predicting lymphovascular invasion of breast cancer
Authors: Liu Zhuangsheng , Li Ruqiong , Liang Keming , Chen Junhao , Chen Xiangmeng , Li Xiaoping , Li Ronggang , Zhang Xin , Yi Lilei , Long Wansheng 
Published: December 2019

Abstract
Background: To use digital mammography, a more popular imaging tool, for predicting lymphovascular invasion(LVI) in breast cancer patients preoperatively.
Methods: 122 cases of invasive ductal carcinoma diagnosed between May 2017 and September 2018 were collected, which were divided into positive group (n=42) and negative group (n=80) according to the presence or absence of LVI.
Results: The differences of these variables(childbearing history, miscarriage history, other breast diseases history, nipple discharge, breast cancer marker CA153, age, ER, PR, HER-2, E-CAD, P53, Ki-67) between LVI positive group and the LVI negative group were not statistically significant, except that of Ki-67 (P=0.012). For the image features of digital mammography, the differences of interstitial edema (P=0.013) and skin thickening (P=0.000) between LVI positive group and negative groups were statistically significant. The differences of other imaging patterns, that is, fibroglandular tissue density, size , solitary/multiple, mass shape, mass margin , subcutaneous fat, axillary adenopathy and so on, between the two groups were not statistically significant. Multiple factor analysis shows that, there are three independent risk factors for predicting LVI occurrence: interstitial edema (OR = 12.610, 95% confidence interval CI: 1.061, 149.922, P=0.045), subcutaneous fat (OR=0.081, 95% confidence interval CI: 0.012, 0.645, P =0.017) and skin thickening (OR=9.041, 95% confidence interval CI: 2.553, 32.022, P=0.001).
Conclusion: Interstitial edema, blurring of subcutaneous fat layer, and skin thickening were independent risk factors for predicting LVI occurrence. When applying these three imaging patterns together, the specificity of LVI prediction was as high as 98.8%.
Epidemiology and clinico-pathological characteristics of current goat pox outbreak in North Vietnam
Authors: Hong Trang Pham , Lila Mohd Azmi Mohd , Rahaman Nor Yasmin Abd. , Lan Huong Lai Thi , Thi Lan Nguyen , Van Khien Do , Noordin Mohamed Mustapha 
Published: December 2019

Abstract
Background In view of the current swine fever outbreak and the government aspiration to increase the goat population, a need arises to control and prevent industry decimating outbreaks goat pox. Despite North Vietnam facing sporadic cases of goat pox, this most recent outbreak had the highest recorded morbidity, mortality and case fatality rate. Thus, owing to the fear that such outbreak may recur and become widespread, an analysis of that outbreak was done based on selected signalment, management and disease pattern (signs and pathology) parameters.Results It was found that the susceptible age group were between 3-6 months old kids while higher infection rate occurred in those under the free-range rearing system. The clinical signs and lesions were not restricted to the skin but have extended into the lung and intestine. The pathogen had been confirmed in positive cases via PCR as goat pox with prevalence of almost 80%.Conclusions The current outbreak of goat pox in North Vietnam denotes its significance to the industry and signals the importance of a prompt identification which will lead to an effective control of the disease.
Suicide among people treated for drug use disorders: a Danish national record-linkage study
Authors: Hesse Morten , Thylstrup Birgitte , Seid Abdu Kedir , Skogen Jens Christoffer 
Published: December 2019

Abstract
Background: Substance use disorders are a major risk factor for suicide. However, less is known about specific risk factors for suicide in people with substance use disorders.
Methods: This population cohort study assessed suicide among people treated for drug use disorders in Denmark 2000-2010, and described risk factors for completed suicide. Data from 27,942 individuals enrolled in treatment were linked to national registers and matched with controls without drug use disorder and with (n=138,136) or without psychiatric history (n=1,574). Competing risk regression was used to identify risk factors of completed suicide.
Results: There were 163 suicides among patients with a history of drug treatment (0.6% of patients). Increased risk was associated with younger age at enrolment (hazard ratio [HR] = 0.97, 95% confidence interval (CI): 0.95, 0.98), history of psychiatric care (HR=1.96, CI 95%: 1.39, 2.77), opioid use (HR=1.81, 95% CI: 1.23, 2.68), and alcohol use (HR=1.56, 95% CI: 1.09, 2.23). Lower risk was associated with cannabis use (HR=0.69, 95% CI: 0.50, 0.96). Compared with age- and gender-matched controls without a history of treatment for substance use disorders or recent psychiatric care, the standardized mortality ratio due to suicide was 7.13 for people with drug use disorder without a history of psychiatric care (95% CI: 5.81, 8.44), 13.48 for people with drug use disorder and psychiatric history (95% CI: 9.75, 17.22), and 13.61 for people with psychiatric history only (95% CI: 6.72, 20.50).
Conclusions: Risk of suicide is increased among people with drug use disorders. Access to treatment for co-morbid mental health problems for people with drug use disorders could potentially reduce risk of suicide.