bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
Authors: Widyastuti Halida P. , Norden-Krichmar Trina M. , Grosberg Anna , Zaragoza Michael V. 
Published: July 2020

Abstract
Background
Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expression, and signal transduction. LMNA mutations predominantly affect mesoderm-derived cell lineages in diseases collectively termed as laminopathies that include dilated cardiomyopathy with conduction defects, different forms of muscular dystrophies, and premature aging syndromes as Hutchinson-Gilford Progeria Syndrome. At present, our understanding of the molecular mechanisms regulating tissue-specific manifestations of laminopathies are still limited.

Methods
To gain deeper insight into the molecular mechanism of a novel LMNA splice-site mutation (c.357-2A > G) in an affected family with cardiac disease, we conducted deep RNA sequencing and pathway analysis for nine fibroblast samples obtained from three patients with cardiomyopathy, three unaffected family members, and three unrelated, unaffected individuals. We validated our findings by quantitative PCR and protein studies.

Results
We identified eight significantly differentially expressed genes between the mutant and non-mutant fibroblasts, that included downregulated insulin growth factor binding factor protein 5 (IGFBP5) in patient samples. Pathway analysis showed involvement of the ERK/MAPK signaling pathway consistent with previous studies. We found no significant differences in gene expression for Lamin A/C and B-type lamins between the groups. In mutant fibroblasts, RNA-seq confirmed that only the LMNA wild type allele predominately was expressed, and Western Blot showed normal Lamin A/C protein levels.

Conclusions
IGFBP5 may contribute in maintaining signaling pathway homeostasis, which may lead to the absence of notable molecular and structural abnormalities in unaffected tissues such as fibroblasts. Compensatory mechanisms from other nuclear membrane proteins were not found. Our results also demonstrate that only one copy of the wild type allele is sufficient for normal levels of Lamin A/C protein to maintain physiological function in an unaffected cell type. This suggests that affected cell types such as cardiac tissues may be more sensitive to haploinsufficiency of Lamin A/C. These results provide insight into the molecular mechanism of disease with a possible explanation for the tissue specificity of LMNA-related dilated cardiomyopathy.
American Indian chronic Renal insufficiency cohort study (AI-CRIC study)
Authors: Unruh Mark L. , Arzhan Soraya , Feldman Harold I. , Looker Helen C. , Nelson Robert G. , Faber Thomas , Johnson David , Son-Stone Linda , Pankratz Vernon S. , Myaskovsky Larissa , Shah Vallabh O. ,   the CRIC study investigators, Appel Lawrence J. , Go Alan S. , He Jiang , Lash James P. , Rahman Mahboob , Rao Panduranga S. , Townsend Raymond R. 
Published: July 2020

Abstract
Background
Chronic kidney disease (CKD) is an increasing epidemic globally that is associated with adverse health outcomes including end stage kidney disease (ESKD), cardiovascular disease (CVD), and death. American Indians (AIs) have a higher prevalence of CKD than most other racial/ethnic groups, due in part to a high prevalence of type 2 diabetes. Other genetic and environmental factors not yet identified may also contribute to the disproportionate burden of CKD in AIs.

Method
We will establish 3 clinical centers to recruit AIs from the Southwest United States (US) to expand the Chronic Renal Insufficiency Cohort (CRIC) study. We will follow the current CRIC protocol for kidney and cardiovascular measures and outcomes, which include ambulatory monitoring of kidney function and the use of mobile health technologies for CVD sub-phenotyping, and compare the outcomes in AIs with those in other racial/ethnic groups in CRIC.

Discussion
AI-CRIC will identify the role of various risk factors for rapid loss of kidney function among AIs of the Southwest US. In addition, to better understand the natural history of CKD and CVD in this high-risk population, we will identify unique risk factors for CKD and CVD progression in AIs. We will also compare event rates and risk factors for kidney and cardiovascular events in AIs with the other populations represented in CRIC.
Postnatal depression and its association with adverse infant health outcomes in low- and middle-income countries: a systematic review and meta-analysis
Authors: Dadi Abel Fekadu , Miller Emma R. , Mwanri Lillian 
Published: July 2020

AbstractBackgroundPostnatal Depression (PND) is a mood disorder that steals motherhood and affects the health and development of a newborn. While the impact of PND on motherhood and newborn in developed countries are well described, its epidemiology and health consequences in infant is not well known in middle-and low-income countries. The objective of this review was to determine the burden and association of PND with adverse infant health outcomes in low-and middle- income countries.MethodsWe searched observational studies written in the English language and conducted in middle-and low-income countries between December 1st, 2007, and December 31st, 2017. The CINHAL, MEDLINE, Emcare, PubMed, Psych Info, and Scopus databases were searched for the following search terms: PND, acute respiratory infection, pneumonia, diarrhea, exclusive breastfeeding, common infant illnesses, and malnutrition. We excluded studies in which the primary outcomes were not measured following a standardized approach. We have meta-analyzed the estimates from primary studies by adjusting for possible publication bias and heterogeneity. The analysis was conducted in Stata 14. The study was registered in PROSPERO protocol number CRD42017082624.ResultFifty-eight studies on PND prevalence (among 63,293 women) and 17 studies (among 32,454 infants) on infant health outcomes were included. PND prevalence was higher in the low-income countries (Pooled prevalence (PP) = 25.8%; 95%CI: 17.9–33.8%) than in the middle-income countries (PP = 20.8%; 95%CI: 18.4–23.1%) and reached its peak in five to ten weeks after birth. Poor obstetric history and social support, low economic and educational status, and history of exposure to violence were associated with an increased risk of PND. The risk of having adverse infant health outcomes was 31% higher among depressed compared to non-depressed postnatal mothers (Pooled relative risk (PRR) = 1.31; 95%CI: 1.17–1.48). Malnutrition (1.39; 1.21–1.61), non-exclusive breastfeeding (1.55; 1.39–1.74), and common infant illnesses (2.55; 1.41–4.61) were the main adverse health outcomes identified.ConclusionsOne in four and one in five postnatal mothers were depressed in low and middle-income countries, respectively. Causes of depression could be explained by social, maternal, and psychological constructs. High risk of adverse infant health outcomes was associated with PND. Timely screening of PND and evidence-based interventions were a pressing need in low and middle-income countries.
LINC00511 as a prognostic biomarker for human cancers: a systematic review and meta-analysis
Authors: Agbana Yannick Luther , Abi Manzama-Esso , Ni Yueli , Xiong Guohang , Chen Jing , Yun Fang , Yi Zihan , Zhang Qiao , Yang Zhe , Kuang Yingmin , Zhu Yuechun 
Published: July 2020

Abstract
Background
Long intergenic non-coding RNA 00511 (LINC00511) is highly expressed in diverse cancers and has a correlation with poor clinical outcomes for cancer patients. In view of contradictory data among published data, we aim to evaluate the prognostic role of LINC00511 for cancer patients.

Methods
In the present study, a meta-analysis of related studies has been performed to investigate the prognostic significance of LINC00511 in cancer patients. Relevant studies published before December 22, 2019 were systematically searched online in PubMed, EMBASE, Web of Science, and the Cochrane Library databases. The relationship between LINC00511 expression and cancer patients’ survival, including overall survival (OS), disease-free survival (DFS)/relapse-free survival (RFS) and progression-free survival (PFS), was evaluated using pooled hazard ratios (HRs) with their corresponding 95% confidence intervals (CIs). The association between LINC00511 expression and clinicopathological features was assessed using odd ratios (ORs) and their corresponding 95% CIs.

Results
A total of 14 eligible studies with 1883 patients were enrolled in the present meta-analysis. The results demonstrated that elevated expression of LINC00511 was significantly associated with poor OS (HR = 2.62; 95% CI: 2.00–3.45; p <  0.001), PFS (HR = 1.80; 95% CI: 1.29–2.51; p = 0.001) and DFS/RFS (HR = 2.90; 95% CI: 1.04–8.12; p = 0.04). Additionally, High LINC00511 expression was associated with large tumor size (OR = 3.10; 95% CI: 1.97–4.86; p <  0.00001), lymph node metastasis (OR = 3.11; 95% CI: 2.30–4.21; p <  0.00001), advanced clinical stage (OR = 3.95; 95% CI: 2.68–5.81; p <  0.00001), distant metastasis (OR = 2.39; 95% CI: 1.16–4.93; p = 0.02), and disease recurrence (OR = 4.62; 95% CI: 2.47–8.65; p <  0.00001). Meanwhile, no correlation was found between LINC00511 expression and age, gender, and histological grade. These findings were consolidated by the results of bioinformatics analysis.

Conclusions
Based on our findings, LINC00511 may serve as a novel prognostic biomarker for cancer patients.
Validity and item response theory properties of the Patient Health Questionnaire-9 for primary care depression screening in Mozambique (PHQ-9-MZ)
Authors: Cumbe Vasco F. J. , Muanido Alberto , Manaca Maria Nélia , Fumo Hélder , Chiruca Pedro , Hicks Leecreesha , de Jesus Mari Jair , Wagenaar Bradley H. 
Published: July 2020

Abstract
Background
Depression is one of the leading causes of disability in Mozambique; however, few patients with depression are identified in primary care. To our knowledge, there are no validated tools for depression screening in Mozambique. The aim of this study was to validate the Patient Health Questionnaire-9 (PHQ-9) for use in primary care settings in Mozambique.

Methods
The PHQ-9 was adapted using a structured multi-phase process led by a team of bilingual experts followed by a review by lay individuals and pilot-testing including cognitive interviews. The final Mozambican PHQ-9 (PHQ-9-MZ) was applied among 502 individuals randomly selected from antenatal, postpartum, and general outpatient consultations in three Ministry of Health primary healthcare clinics in Sofala Province, Mozambique. The PHQ-9-MZ was evaluated against the MINI 5.0-MZ as a gold standard diagnostic tool.

Results
The majority of participants were female (74%), with a mean age of 28. Using the MINI 5.0-MZ, 43 (9%) of the sample tested positive for major depressive disorder. Items of the PHQ-9-MZ showed good discrimination and factor loadings. One latent factor of depression explained 54% of the variance in scores. Questions 3 (sleep) and 5 (appetite) had the lowest item discrimination and factor loadings. The PHQ-9-MZ showed good internal consistency, with a Cronbach’s alpha of 0.84, and an area under the receiver operating characteristic curve (AUROC) of 0.81 (95% CI: 0.73, 0.89). The PHQ-2-MZ had an AUROC of 0.78 (95% CI: 0.70, 0.85). Using a cut-point of ≥9, the PHQ-9-MZ had a sensitivity of 46.5% and a specificity of 93.5%. Using a cut-point of ≥2, the PHQ-2-MZ had a sensitivity of 74.4% and a specificity of 71.7%. Increasing the cut-point to ≥3, the PHQ-2-MZ has a sensitivity of 32.6% and a specificity of 94.6%.

Conclusions
The PHQ-9-MZ and PHQ-2-MZ emerge as two valid alternatives for screening for depression in primary health care settings in Mozambique. Depending on program needs and weighing the value of minimizing false positives and false negatives, the PHQ-9-MZ can be employed with cut-points ranging from ≥8 to ≥11, and the PHQ-2-MZ with cut-points ranging from ≥2 to ≥3.
Distant mood monitoring for depressive and bipolar disorders: a systematic review
Authors: van der Watt A. S. J. , Odendaal W. , Louw K. , Seedat S. 
Published: July 2020

Abstract
Background
Broadening our knowledge of the longitudinal course of mood symptoms is cardinal to providing effective long-term treatments. Research indicates that patients with mental illness are willing to engage in the use of telemonitoring and mobile technology to assess and monitor their mood states. However, without the provision of distant support, adverse outcomes and events may be difficult to prevent and manage through self-monitoring. Understanding patient perspectives is important to achieving the best balance of self-monitoring, patient empowerment, and distant supporter involvement.

Methods
This systematic review synthesises quantitative and qualitative evidence of the effectiveness and feasibility of daily/weekly/monthly remote mood monitoring that includes distant support in participants with mood disorders. Inclusion criteria comprised mood monitoring of mood disorder patients as main intervention, study design, method of monitoring, and presence of psychotherapy and psychoeducation. Effectiveness was defined by the change in depression and/or mania scores. Feasibility was determined on participant feedback and completion/attrition rates. Studies were assessed for quality using the Mixed Methods Appraisal Tool version 2018.

Results
Nine studies of acceptable quality met the inclusion criteria. Distant mood monitoring was effective in improving depression scores but not mania scores. Feasibility, as measured through compliance and completion rates and participant feedback, varied.

Conclusion
Distant mood monitoring with support may be a useful, acceptable, and feasible intervention for diverse groups of patients in terms of age and ethnicity. Further, it may be effective in improving symptoms of depression, increasing treatment adherence, and facilitating the prevention and management of adverse outcomes. As a task-shifting intervention, distant mood monitoring may help to alleviate the burden on mental health providers in developing countries.
Vaccine uptake and associated factors in an irregular urban settlement in northeastern Brazil: a cross-sectional study
Authors: de Araújo Veras Ana Amélia Corrêa , da Fonseca Lima Eduardo Jorge , Caminha Maria de Fátima Costa , da Silva Suzana Lins , de Castro Amanda Alves Moreira , Bernardo Andressa Lílian Bezerra , Ventura Maria Lídia Amaral Barbosa , de Lira Pedro Israel Cabral , Batista Filho Malaquias 
Published: July 2020

Abstract
Background
Globally, childhood immunization saves the lives of 2–3 million children annually by protecting them against vaccine-preventable diseases. In 2017, 116.2 million children were vaccinated worldwide according to the World Health Organization. Nevertheless, figures suggest that 19.5 million children around the world fail to receive the benefits of complete immunization.

Methods
This cross-sectional study analyzed vaccine uptake and the factors associated with incomplete vaccination schedule in children of up to 36 months of age assisted by the family health strategy in an irregular settlement located in a state capital city in northeastern Brazil. This study was nested within a larger study entitled “Health, nutrition and healthcare services in an urban slum population in Recife, Pernambuco”, conducted in 2015. A census included 309 children, with vaccination data obtained, exclusively, from their vaccination cards records. An ad hoc database was constructed with variables of interest. Absolute and relative values were calculated for the socioeconomic, demographic, obstetric and biological data. To identify possible factors associated with incomplete vaccination schedule, crude and multivariable Poisson regression analyses were performed, and conducted in accordance with the forward selection method with robust variance and the adjusted prevalence ratio was calculated with the 95% CI. Variables with p-values < 0.20 in the unadjusted stage were included in the multivariable analysis. The statistical significance of each variable was evaluated using the Wald test, with p-values < 0.05.

Results
Just half of the children (52,1%) was classified as complete vaccination schedule. In the final model, the factors associated with incomplete vaccination schedule were age 12–36 months and the mother who did not complete high school.

Conclusion
The percentage of vaccine uptake found was far below the recommendation of the National Childhood Immunization Schedule and was associated with child’s age and mother’s education level. Based on these findings, the family healthcare teams may elaborate vaccination strategies aimed at reaching the coverage rates established by the national immunization program. Optimizing coverage will ultimately prevent the resurgence, at epidemic level, of infectious diseases that are already under control in this country.
Epidemiologic assessment of benzodiazepine exposure among suicide deaths in Colorado, 2015–2017
Authors: Ghosh Tista , Bol Kirk , Butler Maria , Gabella Barbara , Kingcade Andrea , Kaplan Gabriel , Myers Lindsey 
Published: July 2020

Abstract
Background
Suicide rates have been climbing in the U.S., particularly in Rocky Mountain states such as Colorado. Benzodiazepines have been linked with suicidal ideation, but there have been few population level assessments of this link. We conducted a public health assessment to determine the epidemiology and prevalence of recent benzodiazepine exposure, among suicide deaths in Colorado from 2015 to 17.

Methods
This epidemiologic assessment linked Colorado’s Prescription Drug Monitoring Program, death certificate data, and Violent Death Reporting System to determine patterns of benzodiazepine exposure among suicide deaths in Colorado between 2015 and 2017. Recent benzodiazepine exposure was defined as receiving a prescription within 30 days of death or having a positive toxicology screen post-mortem.

Results
Among the 3465 suicide deaths in Colorado between 2015 and 2017, 20% had recent benzodiazepine exposure, and nearly 50% of those also had recent opioid exposure. Recent benzodiazepine exposure was more common among females than males (34% versus 16%). Among suicide deaths, those who died via drug overdose were more likely to have had recent benzodiazepine exposure (48%), compared to suicides by firearm (17%), hanging/asphyxiation (13%) and all other methods (approximately 20%).

Conclusions
Benzodiazepines have been linked to suicidal ideation, but population level assessments of benzodiazepine exposure among suicide deaths are rare. Our epidemiologic assessment indicates a relatively high prevalence of recent benzodiazepine exposure that warrants further investigation from both clinical and public health perspectives.
Cardiovascular disease prevention knowledge and associated factors among adults in Mukono and Buikwe districts in Uganda
Authors: Ndejjo Rawlance , Nuwaha Fred , Bastiaens Hilde , Wanyenze Rhoda K. , Musinguzi Geofrey 
Published: July 2020

Abstract
Background
With the growing epidemic of Cardiovascular Disease (CVD) in sub-Saharan Africa, behavioural change interventions are critical in supporting populations to achieve better cardiovascular health. Population knowledge regarding CVD is an important first step for any such interventions. This study examined CVD prevention knowledge and associated factors among adults in Mukono and Buikwe districts in Uganda.

Methods
The study was cross-sectional in design conducted among adults aged 25 to 70 years as part of the baseline assessment by the Scaling-up Packages of Interventions for Cardiovascular disease prevention in selected sites in Europe and Sub-Saharan Africa (SPICES) – project. Data were collected using pretested semi-structured questionnaires, and respondents categorized as knowledgeable if they scored at least five out of six in the knowledge questions. Data were exported into STATA version 15.0 statistical software for analysis conducted using mixed-effects Poisson regression with fixed and random effects and robust standard errors.

Results
Among the 4372 study respondents, only 776 (17.7%) were knowledgeable on CVD prevention. Most respondents were knowledgeable about foods high in calories 2981 (68.2%), 2892 (66.1%) low fruit and vegetable intake and high salt consumption 2752 (62.9%) as CVD risk factors. However, majority 3325 (76.1%) thought the recommended weekly moderate physical activity was 30 min and half 2262 (51.7%) disagreed or did not know that it was possible to have hypertension without any symptoms. Factors associated with high CVD knowledge were: post-primary education [APR = 1.55 (95% CI: 1.18–2.02), p = 0.002], formal employment [APR = 1.69 (95% CI: 1.40–2.06), p < 0.001] and high socio-economic index [APR = 1.35 (95% CI: 1.09–1.67), p = 0.004]. Other factors were: household ownership of a mobile phone [APR = 1.35 (95% CI: 1.07–1.70), p = 0.012] and ever receiving advice on healthy lifestyles [APR = 1.38 (95% CI: 1.15–1.67), p = 0.001].

Conclusions
This study found very low CVD knowledge with major gaps around recommended physical activity duration, diet and whether hypertension is asymptomatic. Observed knowledge gaps should inform suitable interventions and strategies to equip and empower communities with sufficient information for CVD prevention.

Trial registration
ISRCTN Registry ISRCTN15848572, January 2019, retrospectively registered.
Systemic steroid application for treatment of edematous anastomotic stenosis following delta-shaped anastomosis in laparoscopic distal gastrectomy: a case report
Authors: Arima Jun , Taniguchi Kohei , Kobayashi Toshihiro , Tsunematsu Ichiro , Kagota Shuji , Sakane Junna , Suzuki Yusuke , Uchiyama Kazuhisa , Hiramatsu Masako 
Published: July 2020

Abstract
Background
Delta-shaped anastomosis is a common method of intracorporeal gastroduodenostomy in totally laparoscopic distal gastrectomy. One common postoperative complication of this procedure is anastomotic stenosis, and endoscopic balloon dilatation is a major remedy for such complications. Other treatment strategies are necessary to manage unsuccessful endoscopic balloon dilatation.

Case presentation
We present a case where systemic steroid treatment was applied in sustained anastomotic stenosis after endoscopic balloon dilatation. We performed delta-shaped anastomosis in laparoscopic distal gastrectomy to treat early-stage gastric cancer in a patient. The patient experienced abdominal pain post-surgery; subsequent investigation revealed edematous anastomotic stenosis. The stenosis sustained even after endoscopic balloon dilatation and local steroid injection. Consequently, we applied systemic steroid treatment.

Conclusion
Systemic steroid treatment improved the stenosis and no recurrence was observed. These results suggest that systemic steroid application could be useful to treat anastomotic stenosis.