bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of PNPLA3 rs738409 G/C gene polymorphism with nonalcoholic fatty liver disease in children: a meta-analysis
Authors: Tang Shan , Zhang Jing , Mei Ting Ting , Guo Hai Qing , Wei Xin Huan , Zhang Wen Yan , Liu Ya Li , Liang Shan , Fan Zuo Peng , Ma Li Xia , Lin Wei , Liu Yi Rong , Qiu Li Xia , Yu Hai Bin 
Published: August 2020

Abstract
Background
Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. Current studies have shown that PNPLA3 (Patatin-like phospholipase domain containing 3) rs738409 G/C gene polymorphism is associated with adult nonalcoholic fatty liver disease [1, 2].But there is no consensus on the relationship between PNPLA3 rs738409 G/C gene polymorphism and children NAFLD due to differences in population samples. To this end, a meta-analysis of published research is conducted to comprehensively assess the relationship between PNPLA3 gene polymorphism and NAFLD in children.

Methods
We searched MEDLINE, PubMed, EMBASE, and CENTRAL databases from inception to May 2019. Case-control studies assessing the relationship between PNPLA3 rs738409 G/C gene polymorphism with non-alcoholic fatty liver disease in children were selected according to inclusion and exclusion criteria. Random effects model was used to quantify the association between the PNPLA3 rs738409 G/C gene polymorphism and the susceptibility of children’s NAFLD. Fixed effects model was used to quantify the relationship between the PNPLA3 rs738409 G/C gene polymorphism and the severity of NAFLD in children. The Stata 12.0 software was employed for data analysis.

Results
A total of nine case-control studies were included in this meta-analysis containing data of 1173 children with NAFLD and 1792 healthy controls. Five studies compared NAFLD children and non-NAFLD healthy populations. Statistical analysis showed that PNPLA3 gene polymorphism was significantly associated with children’s NAFLD in the allele contrast, dominant, recessive and over dominant models (G vs C,OR = 3.343, 95% CI = 1.524–7.334; GG + GC vs CC,OR = 3.157, 95% CI = 1.446–6.892;GG vs GC + CC,OR = 5.692, 95% CI = 1.941–16.689; GG + CC vs GC,OR = 2.756, 95% CI = 1.729–4.392). Four case-control studies compared Children with nonalcoholic fatty liver (NAFL) and children with nonalcoholic steatohepatitis (NASH). The results showed that the PNPLA3 gene polymorphism was also significantly associated with the severity of NAFLD in children in recessive gene model (GG vs GC + CC,OR = 14.43, 95% CI = 5.985–34.997); The Egger’s test revealed no significant publication bias.

Conclusions
Meta-analysis showed that PNPLA3 gene polymorphism was significantly associated with susceptibility and severity of NAFLD in children.
Is combined peritoneal dialysis and hemodialysis redundant? A nationwide study from Taiwan
Authors: Chung Mu-Chi , Yu Tung-Min , Wu Ming-Ju , Chuang Ya-Wen , Muo Chih-Hsin , Chen Cheng-Hsu , Chang Chao-Hsiang , Shieh Jeng-Jer , Hung Peir-Haur , Chen Jein-Wen , Chung Chi-Jung 
Published: August 2020

Abstract
Background
Combined peritoneal dialysis (PD) and hemodialysis (HD) therapy (combined therapy) has numerous clinical benefits and should be emphasized for PD patients encountering technique failure.

Methods
This 12-year nationwide retrospective study was conducted to compare long-term outcomes (including admission and mortality risks) between combined therapy patients (combined group) and patients directly transferred from PD to HD (transfer group).

Results
All 12,407 incidental PD patients from 2000 to 2010 were enrolled and followed up until the end of 2011. A total of 688 patients in the combined group and 688 patients in the transfer group were selected after 1:1 frequency matching based on age, sex, and PD duration. The overall admission and mortality risks of the two groups were comparable in a Cox proportional hazards model (adjusted hazard ratio [HR] = 1.06 [95% confidence interval (CI) = 0.95–1.19] and 1.02 [95% CI = 0.80–1.30]), respectively). Compared with the transfer group, combined group patients with recent peritonitis or frequent hemodialysis (four HD sessions per month) had significantly higher risk of admission while combined group patients without peritonitis had significantly lower risk. The number of incidents in the combined group increased over time. On average, patients stayed on combined therapy for 2 years.

Conclusions
Combined therapy (two HD sessions per month) is not redundant but a rational and cost-effective treatment, particularly for patients without recent peritonitis. Dialysis staff should be familiar with the advantages and disadvantages of combined therapy and consider it an essential part of integrated dialysis care.
Multimodal imaging features and genetic findings in Bietti crystalline dystrophy
Authors: Wang Wei , Chen Wei , Bai Xinyue , Chen Ling 
Published: August 2020

Abstract
Background
Bietti crystalline dystrophy (BCD) is a distinct entity of retinitis pigmentosa with a wide range of genotypic and phenotypic variabilities. The goal of the present study was to investigate the morphological, functional and genetic features of BCD.

Methods
A full series of multimodal imaging was performed in four Chinese patients with BCD, including fundus photography, fundus autofluorescence, fundus fluorescein angiography (FFA), indocyanine green (ICG) angiography, optical coherence tomography (OCT) and microperimetry. Electrophysiological tests including full-field electroretinography (ERG) and multifocal ERG were employed. CYP4V2 gene sequencing was performed.

Results
Intraretinal crystalline deposits were observed in fundus photographs in all patients. The crystals were better appreciated in infrared images. Autofluorescence imaging demonstrated multifocal patchy hypofluorescence, suggesting massive RPE atrophy. FFA and ICG angiography further confirmed atrophy of the RPE and the underlying choroidal vessels. OCT revealed disruption of the photoreceptors, RPE and the choroid. Outer retinal tubulations (ORTs) confining to the outer nuclear layer were detected in three out of four patients. Full-field ERG showed markedly diminished responses. Multifocal ERG displayed reduced central and peripheral responses in a patient with normal vision. Gene sequencing identified two deletion mutations in CYP4V2, c.802_807del and c.810delT. BCD complicated by choroidal neovascularization (CNV) was diagnosed in one patient, and intravitreal anti-vascular endothelial growth factor (VEGF) injection was given with favorable response.

Conclusions
Multimodal imaging features and electrophysiological findings of BCD patients were comprehensively discussed. A novel deletion mutation, c.802_807del, in the CYP4V2 gene was reported. ORTs are important changes in the outer retina of BCD patients, further investigation of this structure may provide insights into pathology of BCD. Intravitreal anti-VEGF therapy was effective for treatment of BCD complicated by CNV.
Substance P induces sympathetic immune response in the contralateral eye after the first eye cataract surgery in type 2 diabetic patients
Authors: Gong Xianhui , Ren Yueping , Fang Xiuxiu , Cai Junyong , Song E. 
Published: August 2020

Abstract
Background
Substance P (SP) is a nociceptive tachykinin which regulates the immune inflammatory reactions including monocyte chemoattractant protein 1 (MCP-1) production. Sequential second-eye cataract surgery patients often suffer more pain than the first one partly because of the MCP-1 increase in aqueous humor (AH). This study aims to illustrate whether SP is involved in sympathetic inflammatory responses in the contralateral eye in patients with or without type 2 diabetes.

Methods
This prospective randomized clinical study included 51 cataract patients (22 with diabetes and 29 without). Bilateral sequential cataract surgeries were conducted with 1-day or 1-week interval randomly. More than 100 μl of AH were obtained before surgery and stored for later analysis using magnetic Luminex assays to detect interleukin (IL)-1β, IL-1ra,IL-6, IL-8, IL-10, MCP-1, vascular endothelial growth factor, spinal macrophage inflammatory protein (MIP-1a), interferon-inducible protein 10 (IP-10), regulated on activation, normal T expressed and secreted (RANTES), as well as the enzyme-linked immunosorbent assay for SP.

Results
Among the 4 groups, no significant differences were found in age, sex distribution, the R/L ration of the first surgery eye, or the lens nucleus hardness (P ≥ 0.802). Over 100 μl of AH samples were collected safely in all cases without intraoperative complications. SP and MCP-1 levels were both increased significantly in the second eye of the diabetic patients with 1-day and 1-week interval (P ≤ 0.040). The SP increase in the second eye of the diabetic patients were significantly higher than that of the patients without diabetes (P ≤ 0.030) both in the groups with 1-day and 1-week interval. Similarly, the MCP-1 increase was significantly higher in the diabetic patients in the group with 1-week interval (P = 0.042).

Conclusions
Substance P and MCP-1 productions elevated in the AH of the contralateral eye after the first-eye cataract surgery in diabetic patients, indicating that SP and MCP-1 were involved in the sympathetic inflammatory responses. Diabetic patients are susceptible to noninfectious inflammation after cataract surgery, and perceive more pain in the second-eye phacoemulsification.

Trial registration
Chinese Clinical Trial Registry, ChiCTR1900028374, retrospectively registered on 20th December, 2019.
The economic burden of medical treatment of children with asthma in China
Authors: Wu Ping , Xu Baoping , Shen Adong , He Zonglin , Zhang Casper J. P. , Ming Wai-kit , Shen Kunling 
Published: August 2020

Abstract
Background
At present, there are few studies on the economic burden and medical treatment of children with asthma in China. Thus this study aimed to investigate the economic burden of medical treatment of children with asthma in China.

Method
The 2015 China Medical Insurance Research Association (CHIRA) database was searched for patients with asthma from 0 to 14 years old. A cross-sectional study with cost analysis was conducted.

Results
The annual per capita direct medical cost was RMB 525 (US$75) related to asthma. Totaling 58% of the medical expenditure for asthma was covered by insurance in China, the majority of which were direct medical costs. Those that have the highest rates of using antibiotics were central China (100.0%), children aged 3 years and under (63.6%), as well as fourth-tier and fifth-tier cities (77.1%). Outpatient clinics (98.58% vs 1.42%, P < 0.01), tertiary hospitals (62.08% vs 37.92%, P < 0.01), and general hospitals (72.27% vs 27.73%, P < 0.01) were more often visited than the inpatient clinics, secondary and primary as well as the specialized clinics, respectively.

Conclusion
The economic burden of childhood asthma in China is relatively low, and the national medical insurance reduces their economic burden to a large extent. Abuse of antibiotics in treating asthma was found in China. There remain opportunities to strengthen the hierarchical medical system, reducing hospitalization and emergency visits, and ultimately reducing the economic burden of children with asthma.
Device-assessed physical activity and sedentary behavior in a community-based cohort of older adults
Authors: Rosenberg Dori , Walker Rod , Greenwood-Hickman Mikael Anne , Bellettiere John , Xiang Yunhua , Richmire KatieRose , Higgins Michael , Wing David , Larson Eric B. , Crane Paul K. , LaCroix Andrea Z. 
Published: August 2020

Abstract
Background
Few studies characterize older adult physical activity and sitting patterns using accurate accelerometer and concurrent posture measures. In this descriptive paper, we report accelerometer data collection protocols, consent rates, and physical behavior measures from a population-based cohort study (Adult Changes in Thought, ACT).

Methods
The ACT study holds enrollment steady at approximately 2000 members of Kaiser Permanente Washington aged 65+ without dementia undergoing detailed biennial assessments. In 2016 the ACT-Activity Monitor (ACT-AM) sub-study was initiated to obtain data from wearing activPAL and ActiGraph devices for 7 days following regular biennial visits. We describe the methods protocol of ACT-AM and present characteristics of people who did and did not consent to wear devices. We compute inverse probability of response weights and incorporate these weights in linear regression models to estimate means and 95% confidence intervals (CI) of device-based pattern metrics, adjusted for wear time and demographic factors, and weighted to account for potential selection bias due to device-wear consent.

Results
Among 1885 eligible ACT participants, 56% agreed to wear both devices (mean age 77 years, 56% female, 89% non-Hispanic white, 91% with post-secondary education). On average, those who agreed to wear devices were younger and healthier. Estimated mean (95% CI) activPAL-derived sitting, standing, and stepping times were 10.2 h/day (603–618 min/day), 3.9 h/day (226–239 min/day), and 1.4 h/day (79–84 min/day), respectively. Estimated mean ActiGraph derived sedentary (Vector Magnitude [VM] < =18 counts/15 s), light intensity (VM 19–518 counts/15 s), and moderate-to-vigorous intensity (VM > 518 counts/15 s) physical activity durations were 9.5 h/day (565–577 min/day), 4.5 h/day (267–276 min/day), and 1.0 h/day (59–64 min/day). Participants who were older, had chronic conditions, and were unable to walk a half-mile had higher sedentary time and less physical activity.

Conclusions
Our recruitment rate demonstrates the feasibility of cohort participants to wear two devices that measure sedentary time and physical activity. Data indicate high levels of sitting time in older adults but also high levels of physical activity using cut-points developed for older adults. These data will help researchers test hypotheses related to physical behavior and health in older adults in the future.
Double anti-PL-7 and anti-MDA-5 positive Amyopathic Dermatomyositis with rapidly progressive interstitial lung disease in a Hispanic patient
Authors: Li Zi Ying , Gill Evanpaul , Mo Fan , Reyes Candice 
Published: August 2020

Abstract
Background
Each myositis-specific autoantibody (MSA) tends to have a distinct clinical presentation. Coexistence of MSAs do not commonly occur. If they do, it is unknown if there is an overlap of clinical features or prognostic implications. There are a few reported cases of overlap between these antibodies, mostly reported in patients with Japanese descent. Our aim for this case report is to turn more attention and interest for future MSA profile studies in the Hispanic population, which may hopefully spur better therapies if we realize the prognostic implications of certain myositis subsets including double-positive autoantibody syndromes.

Case presentation
A 27-year-old Hispanic female was admitted to the medical intensive care unit due to acute hypoxemic respiratory failure secondary to acute respiratory distress syndrome (ARDS). She had failed conventional mechanical ventilation and was cannulated for venovenous extracorporeal membrane oxygenation (VV-ECMO) to manage her respiratory failure. She had erythematous scaly plaques on bilateral 3rd metacarpophalangeal joints on examination. Her autoimmune workup revealed positivity for both anti-PL-7(threonyl) and anti-melanoma differentiation-associated gene 5 (MDA5) autoantibodies. After extensive evaluation, it was concluded that she had rapidly progressive interstitial lung disease (RPILD) due to amyopathic dermatomyositis. Despite maximal medical management, she was ultimately transitioned to comfort care measures and expired.

Conclusion
We would like to highlight the rarity of double antibody positive amyopathic dermatomyositis. This unique clinical presentation has only been reported in persons of Japanese descent. Our case is likely to be the first reported to occur in a person of Hispanic descent in the United States.
The rarity of our case could stimulate further study of overlapping MSA to understand its varied presentations and prognoses including possible tendency toward a rapidly progressive ILD phenotype. Earlier detection of these clinical syndromes can lead to better outcomes for patients with RPILD. This case report could also herald an increased recognition and understanding of MSA profile in the Hispanic population in the USA.
Combined anterior and posterior ankle impingement syndrome with nonunion of Cedell fracture in a 58-year-old female: a case report
Authors: Qin De-an , Jin Zhi-zhen , Song Jie-fu 
Published: August 2020

AbstractBackgroundCombined anterior and posterior ankle impingement has seldom been reported. Cedell fracture, fracture of posteromedial tubercle of talus, is an uncommon and easily missed injury which may elicit posteromedial ankle impingement. The injury mechanisms and management strategies of these two lesions have been reported individually. But the concurrent lesion of both of them has not been reported.Case presentationWe reported a 58-year-old female with combined anterior and posterior ankle impingement syndrome with nonunion of Cedell fracture in whom open osteophytes debridement, fracture internal fixation and posterior talotibial ligament reconstruction were performed. The AOFAS hindfoot score was 90 at 1 year follow-up. To our knowledge, this was the first reported case with anterior, posterior and posteromedial impingement which was treated operatively with an excellent short-term outcome.ConclusionsTo fully recognize this occult lesion and avoid missing is imperative for reducing the morbidities. We suggest CT and MRI as excellent imaging modalities that can help the timely diagnosis and appropriate treatment for this combined impingement with circumferential lesions.
Combined therapy of somatostatin analogues with pegvisomant for the treatment of acromegaly: a meta-analysis of prospective studies
Authors: Ma Lingyun , Luo Daohuang , Yang Ting , Wu Songtao , Li Min , Chen Chaoyang , Zhou Shuang , Ma Lingyue , Wu Ye , Zhou Ying , Cui Yimin 
Published: August 2020

AbstractBackgroundAcromegaly is a rare, chronic and severe disease. Drug therapy including somatostatin analogues (SAs), dopamine receptor agonists and growth hormone receptor antagonists (pegvisomant, PEG) are commonly used to treat patients who do not respond to surgery. The use of combination therapy with PEG and SAs has become more common over the last decade. We performed this study to accurately evaluate the effect of combination therapy of SAs with PEG on acromegalic patients.MethodsPubMed, EMBASE, The Cochrane Library, ClinicalTrials.gov, Scopus, Web of Science, Chinese Biomedical Literature Database and Trip databasewere searched for relevant studies. Prospective clinical trials treating acromegaly with the co-administration of SAs and PEG were included. We performed a meta-analysis by usingStata 12.1. Sensitivity analysis was conducted to explore heterogeneity.ResultsNine studies were included in this meta-analysis. The overall rate of serum insulin-like growth factor 1 (IGF-1) normalization was 66% (95% CI: 52–78%; I2 = 62.59%). The combination therapy did not significantly change patients’ fasting plasma glucose (ES: 0.011 mmol*L− 1; 95% CI: − 0.374 to 0.397 mmol*L− 1;P = 0.954) or glycosylated haemoglobin (ES: − 0.074%; 95% CI: − 0.166 to 0.315%;P = 0.544) while decreasing the fasting plasma insulin (ES: − 21.487 pmol*L-1; 95% CI: − 35.713 to − 7.260 pmol*L-1;P = 0.003). Elevation of liver enzyme levels was found in 14% (95% CI: 8 to 21%) of the patients. There was no significant difference for serious adverse events and treatment discontinuation due to adverse event between SAs monotherapy group and combination therapy group.ConclusionsCombined therapy of SAs and PEG effectively normalized IGF-1 levels in most of the patients whose IGF-1 level was greater than the upper limit of normal after high dose SAs monotherapy. The therapy also decreased significantly FPI levels with a neutral effect on glucose parameters in acromegaly patients. Moreover, elevated liver enzyme levels were observed in a small number of patients, which suggests a need for liver function monitoring.Trial registrationWe have our protocol registered in PROSPERO. (Registration number:CRD42019115549).
Home blood pressure data visualization for the management of hypertension: designing for patient and physician information needs
Authors: Koopman Richelle J. , Canfield Shannon M. , Belden Jeffery L. , Wegier Pete , Shaffer Victoria A. , Valentine K. D. , Jain Akshay , Steege Linsey M. , Patil Sonal J. , Popescu Mihail , LeFevre Michael L. 
Published: August 2020

Abstract
Background
Nearly half of US adults with diagnosed hypertension have uncontrolled blood pressure. Clinical inertia may contribute, including patient-physician uncertainty about how variability in blood pressures impacts overall control. Better information display may support clinician-patient hypertension decision making through reduced cognitive load and improved situational awareness.

Methods
A multidisciplinary team employed iterative user-centered design to create a blood pressure visualization EHR prototype that included patient-generated blood pressure data. An attitude and behavior survey and 10 focus groups with patients (N = 16) and physicians (N = 24) guided iterative design and confirmation phases. Thematic analysis of qualitative data yielded insights into patient and physician needs for hypertension management.

Results
Most patients indicated measuring home blood pressure, only half share data with physicians. When receiving home blood pressure data, 88% of physicians indicated entering gestalt averages as text into clinical notes. Qualitative findings suggest that including a data visualization that included home blood pressures brought this valued data into physician workflow and decision-making processes. Data visualization helps both patients and physicians to have a fuller understanding of the blood pressure ‘story’ and ultimately promotes the activated engaged patient and prepared proactive physician central to the Chronic Care Model. Both patients and physicians expressed concerns about workflow for entering and using home blood pressure data for clinical care.

Conclusions
Our user-centered design process with physicians and patients produced a well-received blood pressure visualization prototype that includes home blood pressures and addresses patient-physician information needs. Next steps include evaluating a recent EHR visualization implementation, designing annotation functions aligned with users’ needs, and addressing additional stakeholders’ needs (nurses, care managers, caregivers). This significant innovation has potential to improve quality of care for hypertension through better patient-physician understanding of control and goals. It also has the potential to enable remote monitoring of patient blood pressure, a newly reimbursed activity, and is a strong addition to telehealth efforts.