bluuebunny/crossref_metadata_2025_split huggingface dataset:
VNTR2/VNTR3 genotype in the FCGRT gene is associated with reduced effectiveness of intravenous immunoglobulin in patients with myasthenia gravis
Authors: Su Shengyao , Liu Qing , Zhang Xueping , Wen Xinmei , Lei Lin , Shen Faxiu , Fan Zhirong , Duo Jianying , Lu Yan , Di Li , Wang Min , Chen Hai , Zhu Wenjia , Xu Min , Wang Suobin , Da Yuwei 
Published: January 2021

Background: Intravenous immunoglobulin (IVIG) has been commonly used to treat myasthenia gravis exacerbation, but is still ineffective in nearly 30% of patients. A variable number of tandem repeat (VNTR) polymorphism in the FCGRT gene has been found to reduce the efficiency of IgG biologics. However, whether the polymorphism influences the efficacy of IVIG in generalized myasthenia gravis (MG) patients with exacerbations remains unknown. Methods: The distribution of VNTR genotypes was analyzed in 334 patients with MG. Varied VNTR alleles were determined by capillary electrophoresis and confirmed by Sanger sequencing. Information of endogenous IgG levels were collected in patients without previous immunotherapy ( n = 26). Medical records of patients who received IVIG therapy were retrospectively analyzed for therapeutic outcomes of IVIG treatment ( n = 61). Patients whose Activities of Daily Living scores decreased by 2 or more points on day 14 were considered responders to the treatment. Results: The VNTR3/3 and VNTR2/3 genotypes were detected in 96.7% (323/334) and 3.4% (11/334) patients, respectively. Patients with VNTR2/3 heterozygosity had lower endogenous IgG levels than those with VNTR3/3 homozygosity (9.81 ± 2.61 g/L versus 12.41 ± 2.45g/L, p = 0.016). The response rate of IVIG therapy was 78.7% (48/61). All responders and nine non-responders were VNTR3/3 homozygotes, whereas all the patients with VNTR2/3 genotypes were non-responders ( n = 4). In patients who took IVIG treatments, endogenous IgG levels were significantly lower in non-responders compared with responders (12.93 ± 2.24 g/L versus 8.85 ± 2.69 g/L, p = 0.006), especially in VNTR2/3 heterozygotes (7.86 ± 1.78 g/L, p = 0.001). Conclusion: The VNTR2/3 genotype could influence endogenous IgG levels and serve as a predictive marker for poor responses to IVIG in MG patients.
The frequency of occult solid malignancy in patients with polymyalgia rheumatica-like symptoms
Authors: Ramon André , Guillibert-Karras Caroline , Milas-Julien Laurence , Garrot Jean-François , Maillefert Jean-Francis , Ornetti Paul 
Published: January 2021

Aims: We aim to evaluate the clinical usefulness of systematic screening for occult cancer in patients with polymyalgia rheumatic (PMR)-like symptoms in real-life practice. Methods: All patients seen by rheumatologists in Burgundy, France, between March 2016 and December 2018 for new-onset PMR that met the 2012 ACR/EULAR classification criteria were prospectively included. Patients underwent systematic screening including determination of the erythrocyte sedimentation rate, serum C-reactive protein levels, thoracic, abdominal and pelvic computed tomography (CT-TAP) and, in men, serum prostate-specific antigen. The standardized incidence ratio (SIR) for cancers was calculated using 2012 national estimates of cancer incidence. Potential predictive factors for the diagnosis of cancer were then evaluated using univariate and multivariate analyses. Results: Among the 118 patients included, nine cases of cancer were confirmed and diagnosed with CT-TAP: kidney carcinoma ( n = 4), lung cancer ( n = 2), pancreatic, colon, and ampullary carcinoma ( n = 1 each). Among these cancers, five were localized (four kidney, and one ampullary carcinoma) and were treated with complete surgical resection. The expected incidence of cancer in the general population was 1.95, leading to an overall SIR of 4.6 (95% CI 2.4–8.9, p < 0.0001). An additional analysis was performed for the kidney carcinoma, and it showed a highly significant increase in SIR: 80.8 (95% CI 30.3–215.4). In 80% of patients, the PMR-like syndrome regressed during cancer treatment. No other predictive factors for cancer were found. Conclusion: Systematic screening for cancer including CT-TAP in real-life practice revealed occult solid malignancy, mostly early-stage cancer, in a relevant proportion of patients presenting PMR-like symptoms. The high proportion of kidney cancer (40%) is worth highlighting, especially considering that it is not one of the most frequent cancers after 50 years of age.
Reduced expression of annexin A2 is associated with impaired cell surface fibrinolysis and venous thromboembolism
Authors: Fassel Hannah , Chen Huigen , Ruisi Mary , Kumar Neha , DeSancho Maria , Hajjar Katherine A. 
Published: January 2021

Abstract
Reduced plasma fibrinolysis has been identified as a potential risk factor for venous thromboembolism (VTE), but the role of cell surface fibrinolysis in VTE is unknown. The annexin A2/S100A10 complex serves as a coreceptor for plasminogen and tissue plasminogen activator (tPA), augmenting plasmin generation by 60-fold on the endothelial cell surface. Several studies in both mice and humans support the concept that A2 regulates fibrin homeostasis and intravascular thrombosis in vivo. Here, we examined A2 protein expression and function in 115 adult subjects with VTE and 87 healthy controls. Using peripheral blood mononuclear cells as a surrogate for endothelial cells, we found a 41% mean decrease in cell surface tPA-dependent fibrinolytic activity in subjects who had a positive personal and family history of VTE but tested negative for known inherited thrombophilias (ITs). A2 protein was reduced on average by 70% and messenger RNA levels by 30%, but neither decrease correlated with anticoagulant therapy. Neither cell A2 protein nor cell surface plasmin generation correlated with plasma-based clot lysis times, suggesting that the plasma and cell surface fibrinolytic systems operate independently of one another. These data suggest that reduced expression of annexin A2 protein is associated with cell surface hypofibrinolysis and may represent a novel risk factor for IT.
Cerebral trauma-induced dyschromatopsia in the left hemifield: case presentation
Authors: Mase Yoko , Matsui Yoshitsugu , Uchiyama Eriko , Matsubara Hisashi , Sugimoto Masahiko , Kubo Akiko , Kondo Mineo 
Published: January 2021

Abstract
Background
Acquired color anomalies caused by cerebral trauma are classified as either achromatopsias or dyschromatopsias (Zeki, Brain 113:1721–1777, 1990). The three main brain regions stimulated by color are V1, the lingual gyrus, which was designated as human V4 (hV4), and the fusiform gyrus, designated as V4α. (Zeki, Brain 113:1721–1777, 1990). An acquired cerebral color anomaly is often accompanied by visual field loss (hemi- and quadrantanopia), facial agnosia, prosopagnosia, visual agnosia, and anosognosia depending on the underlying pathology (Bartels and Zeki, Eur J Neurosci 12:172–193, 2000), (Meadows, Brain 97:615–632, 1974), (Pearman et al., Ann Neurol 5:253–261, 1979). The purpose of this study was to determine the characteristics of a patient who developed dyschromatopsia following a traumatic injury to her brain.

Case presentation
The patient was a 24-year-old woman who had a contusion to her right anterior temporal lobe. After the injury, she noticed color distortion and that blue objects appeared green in the left half of the visual field. Although conventional color vision tests did not detect any color vision abnormalities, short wavelength automated perimetry (SWAP) showed a decrease in sensitivity consistent with a left hemi-dyschromatopsia. Magnetic resonance imaging (MRI) detected abnormalities in the right fusiform gyrus, a part of the anterior temporal lobe. At follow-up 14 months later, subjective symptoms had disappeared, but the SWAP abnormalities persisted and a thinning of the sectorial ganglion cell complex (GCC) was detected.

Conclusion
The results indicate that although the subjective symptoms resolved early, a reduced sensitivity of SWAP remained and the optical coherence tomography (OCT) showed GCC thinning. We conclude that local abnormalities in the anterior section of fusiform gyrus can cause mild cerebral dyschromatopsia without other symptoms. These findings indicate that it is important to listen to the symptoms of the patient and perform appropriate tests including the SWAP and OCT at the early stage to objectively prove the presence of acquired cerebral color anomaly.
Introduction and feeding practices of solid food in preterm infants born in Salzburg!
Authors: Hofstätter Edda , Köttstorfer Verena , Stroicz Patricia , Schütz Sebastian , Auer-Hackenberg Lorenz , Brandner Johannes , Wald Martin 
Published: January 2021

Abstract
Background
It is shown that meeting the increased nutritional demand of preterm infants from birth is not only important for survival but essentially contributes to the infants` overall development and long-term health.
While there are established guidelines for weaning term infants, evidence regarding preterm infants is scarce and less precise.
The aim of this study was to identify the current practices on introducing solids to preterm infants amongst caregivers in Salzburg and determine potential reasons for early weaning.

Methods
Altogether 68 infants born between 24 0/7 and 36 6/7 weeks were recruited and detailed structured interviews with the caregivers were conducted at 17 weeks corrected age. Weight, height and head circumference were collected.

Results
52% of the study group received solids before the recommended 17 weeks corrected age. For this group the mean age being 13.77 ± 1.11 weeks corrected age. Premature introduction of solids significantly correlates with exclusively and early formula-feeding. 34% were weaned due to recommendation by their paediatrician. 23% of the preterm infants even received solids before 12 weeks corrected age, putting them at risks for developing obesity, celiac disease and diabetes.

Conclusions
This study shows the necessity for clear guidelines regarding the introduction of complementary feeding in preterm infants as well as the importance of their implementation. Caregivers should receive information on this topic early enough and they should fully understand the difference between chronological and corrected age.
Dietary patterns and their associations with overweight/obesity among preschool children in Dongcheng District of Beijing: a cross-sectional study
Authors: MIN Kaiyuan , WANG Jing , LIAO Wei , Astell-Burt Thomas , FENG Xiaoqi , CAI Shuya , LIU Yang , ZHANG Peiwen , SU Fenghua , YANG Kexin , SUN Liang , ZHANG Juan , WANG Lianjun , LIU Zechen , JIANG Yu 
Published: January 2021

Abstract
Background
Few studies investigated the associations between dietary patterns and overweight/obesity among Chinese preschool children. Thus, the study aims to explore dietary patterns and their associations with overweight/obesity among preschool children in the Dongcheng District of Beijing.

Methods
With a stratified proportionate cluster sampling, the study included 3373 pairs of preschool children and their guardians. Children’s weight and height were measured by school nurses, and their food and beverage consumption frequencies were reported by guardians via a food frequency questionnaire. Children’s age, gender, physical activity time, and sedentary time, as well as their parents’ highest level of educational attainment, occupation, weight, and height were also collected. Dietary patterns were identified through exploratory factor analysis. Among these identified dietary patterns, the one with the largest factor score was defined as the predominant dietary pattern for each child. The associations between predominant dietary patterns and overweight/obesity were tested by two-level random-intercept logistic models with cluster-robust standard errors.

Results
Four dietary patterns, i.e., a “Sugar-sweetened beverage (SSB) and snack” pattern, a “Chinese traditional” pattern, a “Health conscious” pattern, and a “Snack” pattern, were identified. Among the children, 21.02% (95% CI: 19.68 to 22.43%) were predominated by the “SSB and snack” pattern, 27.78% (95% CI: 26.29 to 29.32%) by the “Chinese traditional” pattern, 24.90% (95% CI: 23.47 to 26.39%) by the “Health conscious” pattern, and 26.30% (95% CI: 24.84 to 27.81%) by the “Snack” pattern. After controlling for potential confounders, the “SSB and snack” pattern characterized by fresh fruit/vegetable juice, flavored milk drinks, carbonated drinks, flavored fruit/vegetable drinks, tea drinks, plant-protein drinks, puffed foods, fried foods, and Western fast foods was associated with a higher risk of overweight/obesity (OR: 1.61, 95% CI:1.09 to 2.38), compared with the “Chinese traditional” pattern.

Conclusions
The preference for dietary patterns with high energy density but low nutritional value was prevalent among preschool children in the Dongcheng District of Beijing. Comprehensive measures to simultaneously reduce consumption of SSBs and unhealthy snacks among preschool children should be taken urgently to address the childhood obesity problem in China, particularly in metropolises.
Control of COVID-19 in Australia through quarantine: the role of special health accommodation (SHA) in New South Wales, Australia
Authors: Fotheringham Penelope , Anderson Teresa , Shaw Miranda , Jewitt Joseph , Storey Hannah , Hutchings Owen , Cartwright Jason , Gupta Leena 
Published: January 2021

Abstract
Background
The first COVID-19 cases were diagnosed in Australia on 25 January 2020. Initial epidiemiology showed that the majority of cases were in returned travellers from overseas. One aspect of Public Health response was to introduce compulsory 14 day quarantine for all travellers returning to New South Wales (NSW) by air or sea in Special Health Accommodation (SHA). We aim to outline the establishment of a specialised health quarantine accommodation service in the context of the COVID-19 pandemic, and describe the first month of COVID-19 screening.

Methods
The SHA was established with a comprehensive governance structure, remote clinical management through Royal Prince Alfred Virtual Hospital (rpavirtual) and site management with health care workers, NSW Police and accommodation staff.

Results
From 29 March to 29 April 2020, 373 returning travellers were admitted to the SHA from Sydney Airport. 88 (26.1%) of those swabbed were positive for SARS-CoV 2. The day of diagnosis of COVID-19 varied from Day 1 to Day 13, with 63.6% (n = 56) of these in the first week of quarantine. 50% of the people in the SHA were referred to rpavirtual for ongoing clinical management. Seven people required admission to hospital for ongoing clinical care.

Conclusion
The Public Health response to COVID-19 in Australia included early and increased case detection through testing, tracing of contacts of confirmed cases, social distancing and prohibition of gatherings. In addition to these measures, the introduction of mandated quarantine for travellers to Australia was integral to the successful containment of COVID-19 in NSW and Australia through the prevention of transmission locally and interstate from returning travellers.
Aborted sudden cardiac death due to ventricular fibrillation in a female patient with mitral valve prolapse
Authors: Ayed Sofien , Hoffmann Rainer 
Published: January 2021

AbstractBackgroundMitral valve prolapse is the most frequent valvular defect associated with a wide range of electro-hemodynamic abnormalities, leading to heart failure, arrhythmias and sudden cardiac death. Mitral valve prolapse, first described from Barlow in the 1960s, is defined as displacement of mitral leaflet tissue into the left atrium past the mitral annular plane during systole. The correlation between mitral valve prolapse and sudden cardiac death has been investigated and clarified by various studies in recent years. However, identifying patients at risk and applying measures to prevent those from sudden cardiac death is challenging.Case presentationWe report on a 61-year-old female patient who had undergone an aborted sudden cardiac death. An arrythmogenic mitral valve prolapse was diagnosed. In addition, electrocardiographically and morphologically risk markers for sudden cardiac death were found in this case. We performed an ICD implantation as secondary prophylaxis and intended to reconstruct the mitral valve.ConclusionThis article examines the association of mitral valve prolapse with sudden cardiac death, the underlying pathophysiological mechanisms and the strategies leading to identify the risk group.
iTRAQ-based proteomic profiling reveals protein alterations after traumatic brain injury and supports thyroxine as a potential treatment
Authors: Zhang Zhongxiang , Yu Jiangtao , Wang Pengcheng , Lin Lian , Liu Ruining , Zeng Rong , Ma Haoli , Zhao Yan 
Published: January 2021

AbstractTraumatic brain injury (TBI) is a primary cause of disability and death across the world. Previously, RNA analysis was widely used to study the pathophysiological mechanisms underlying TBI; however, the relatively low correlation between the transcriptome and proteome revealed that RNA transcription abundance does not reliably predict protein abundance, which led to the emergence of proteomic research. In this study, an iTRAQ proteomics approach was applied to detect protein alterations after TBI on a large scale. A total of 3937 proteins were identified, and 146 proteins were significantly changed after TBI. Moreover, 23 upregulated proteins were verified by parallel reaction monitoring (PRM), and fold changes in 16 proteins were consistent with iTRAQ outcomes. Transthyretin (Ttr) upregulation has been demonstrated at the transcriptional level, and this study further confirmed this at the protein level. After treatment with thyroxine (T4), which is transported by Ttr, the effects of T4 on neuronal histopathology and behavioral performance were determined in vivo (TBI + T4 group). Brain edema was alleviated, and the integrity of the blood brain barrier (BBB) improved. Escape latency in the Morris water maze (MWM) declined significantly compared with the group without T4 treatment. Modified neurological severity scores (mNSS) of the TBI + T4 group decreased from day 1 to day 7 post-TBI compared with the TBI + saline group. These results indicate that T4 treatment has potential to alleviate pathologic and behavioral abnormalities post-TBI. Protein alterations after T4 treatment were also detected by iTRAQ proteomics. Upregulation of proteins like Lgals3, Gfap and Apoe after TBI were reversed by T4 treatment. GO enrichment showed T4 mainly affected intermediate filament organization, cholesterol transportation and axonal regeneration. In summary, iTRAQ proteomics provides information about the impact of TBI on protein alterations and yields insight into underlying mechanisms and pathways involved in TBI and T4 treatment. Finally, Ttr and other proteins identified by iTRAQ may become potential novel treatment targets post-TBI.
Profile of copper-associated DNA methylation and its association with incident acute coronary syndrome
Authors: Long Pinpin , Wang Qiuhong , Zhang Yizhi , Zhu Xiaoyan , Yu Kuai , Jiang Haijing , Liu Xuezhen , Zhou Min , Yuan Yu , Liu Kang , Jiang Jing , Zhang Xiaomin , He Meian , Guo Huan , Chen Weihong , Yuan Jing , Cheng Longxian , Liang Liming , Wu Tangchun 
Published: January 2021

Abstract
Background
Acute coronary syndrome (ACS) is a cardiac emergency with high mortality. Exposure to high copper (Cu) concentration has been linked to ACS. However, whether DNA methylation contributes to the association between Cu and ACS is unclear.

Methods
We measured methylation level at > 485,000 cytosine-phosphoguanine sites (CpGs) of blood leukocytes using Human Methylation 450 Bead Chip and conducted a genome-wide meta-analysis of plasma Cu in a total of 1243 Chinese individuals. For plasma Cu-related CpGs, we evaluated their associations with the expression of nearby genes as well as major cardiovascular risk factors. Furthermore, we examined their longitudinal associations with incident ACS in the nested case-control study.

Results
We identified four novel Cu-associated CpGs (cg20995564, cg18608055, cg26470501 and cg05825244) within a 5% false discovery rate (FDR). DNA methylation level of cg18608055, cg26470501, and cg05825244 also showed significant correlations with expressions of SBNO2, BCL3, and EBF4 gene, respectively. Higher DNA methylation level at cg05825244 locus was associated with lower high-density lipoprotein cholesterol level and higher C-reactive protein level. Furthermore, we demonstrated that higher cg05825244 methylation level was associated with increased risk of ACS (odds ratio [OR], 1.23; 95% CI 1.02–1.48; P = 0.03).

Conclusions
We identified novel DNA methylation alterations associated with plasma Cu in Chinese populations and linked these loci to risk of ACS, providing new insights into the regulation of gene expression by Cu-related DNA methylation and suggesting a role for DNA methylation in the association between copper and ACS.
The association between hallway boarding in internal wards, readmission and mortality rates: a comparative, retrospective analysis, following a policy change
Authors: Ben Shoham Assaf , Munter Gabriel 
Published: January 2021

Abstract
Background
Emergency department overcrowding is associated with adverse clinical outcomes and poor patients and staff experience. Full capacity protocols enabling hallway boarding in internal wards are instituted to relieve emergency room overcrowding. The effect of hallway boarding on the clinical outcomes of all inpatients in the internal wards has not been studied. Early in 2016, a decision to enable hallway boarding in the internal wing in our medical center came into effect, comprising an abrupt change to the medical center’s policy. The objective of this study is to examine the effect of hallway boarding on patients who were hospitalized in the internal wards.

Methods
General linear regression analysis, based on administrative data about admissions of patients, from January 2013 through September 2019, is used to compare in-hospital mortality, 30-day readmission and 30-day mortality rates, of inpatients hospitalized in two internal departments in our medical center, before and after the policy change.

Results
Eight thousand five hundred eighty-three patients and 11,962 patients were admitted to internal departments A and B, before and after the policy change, respectively. Adjusted in-hospital mortality was lower after the policy change (OR 0.76, [CI, 0.65 to 0.90]), 30-day readmission was mildly higher (OR, 1.18 [CI, 1.00 to 1.40]) and no change in 30-day mortality was observed (OR 1.16 [CI, 0.88 to 1.53]). The results emanate from corresponding changes in department A. No apparent change was observed in the length of hospital stay in department A, while a shorter length of stay was observed in department B.

Conclusion
Enabling inpatient boarding in our medical center, effectively, had increased bed capacity and generated an increase in the volume of patients. It was associated with lower in-hospital mortality and an increased 30-day readmission, without increasing 30-day mortality. Since this is an observational study, conducted in a single center, further research is necessary to confirm and qualify these observations.