bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evidence-based Plastic Surgery: Assessing Progress over Two 5-year Periods from 2009 to 2019
Authors: Mihailidis Toni Huw , Al-Benna Sammy 
Published: January 2021

Background:
Publications on evidence-based medicine have increased. Previous articles have examined evidence-based plastic surgery, but the latest was published in 2013. The aim of this study was to examine the trend in the number of high-evidence publications over two 5-year periods across 3 main plastic surgery journals. Further, this study aimed to quality-assess randomized controlled trials (RCTs) published in the latter period.

Methods:
All articles were identified using PubMed Search Tools and Single Citation Matcher. Three journals were manually screened from May 15, 2009, to May 15, 2014, and from May 16, 2014, to May 16, 2019. The reporting of RCTs was assessed using a modified Consolidated Standards of Reporting Trials (CONSORT) checklist.

Results:
Of a total of 17,334 publications, 6 were meta-analyses of RCTs, 120 were other meta-analyses, and 247 were initially identified as RCTs. Although a significant increase in the number of higher-evidence publications is observed, these represent 2.09% (n = 363) of the total. An estimated 86 RCTs were eligible for quality-assessment, with the most popular sub-specialty being breast surgery (n = 30). The most highly reported criteria were inclusion/exclusion criteria and blinding (both n = 67; 77.91%), and the least reported criterion was allocation concealment (n = 21; 24.42%).

Conclusions:
This study observes a positive trend in high-evidence publications. The number of RCTs published has increased significantly over a breadth of sub-specialties. The reporting of several CONSORT criteria in RCTs remains poor. Observation to standard reporting guidelines is advocated to improve the quality of reporting.
LATE PRESENTATION OF RETINAL DETACHMENT
Authors: Anguita Rodrigo , Roth Janice , Makuloluwa Achini , Shahid Syed , Katta Mohamed , Khalid Hagar , Charteris David G. 
Published: January 2021

Purpose:
To describe and evaluate demographic, clinical features, prognostic factors, and rate of success of surgery and visual outcomes in patients with late presentation of retinal detachment.

Methods:
A retrospective, comparative, observational case series of patients with late presentation retinal detachment, defined as retinal detachment with the loss of central vision for 4 weeks or more, over a period of 12 months.

Results:
The mean of onset of central visual loss was 12.7 weeks (SD, 21.3). Proliferative vitreoretinopathy at the first operation was identified in 69% of eyes. The overall primary success rate was 69.2%, significantly less than that was found in outcomes for nonselected retinal detachment (primary success rate, 86%; P = 0.006). The initial best-corrected visual acuity was 20/500, and the final was 20/160 (P = 0.0027). There were no identifiable statistically significant socioeconomic factors related to late presentation.

Conclusion:
A high rate of established proliferative vitreoretinopathy on presentation was identified, and although cases can be treated with good anatomical results, visual outcomes are often less favorable. Primary surgical success is lower, and more reoperations are required compared with standard retinal detachments.
TEMPORAL CHANGES OF PARAFOVEAL MICROVASCULATURE AFTER EPIRETINAL MEMBRANE SURGERY
Authors: Kim Jongshin , Park Kyu Hyung 
Published: January 2021

Purpose:
To investigate whether the parafoveal capillary architecture predicts clinical course and visual outcomes after epiretinal membrane (ERM) surgery.

Methods:
A total of 71 eyes of 71 patients treated with vitrectomy for idiopathic ERM were enrolled. The parafoveal capillary displacement and fractal geometries were compared according to the stage of ERM. Correlations between the parafoveal capillary displacement in the superficial capillary plexus, the fractal dimension and lacunarity in the deep capillary plexus (DCP), foveal thickness, and visual outcomes were evaluated.

Results:
Compared with eyes with mild ERM, eyes with severe ERM exhibited higher parafoveal capillary displacement in the superficial capillary plexus, lower fractal dimension and higher lacunarity in the DCP, and greater foveal thickness (P < 0.05). The parafoveal capillary displacement in the superficial capillary plexus and fractal dimension and lacunarity in the DCP improved significantly, particularly at 1 month postoperatively (P < 0.05) and reached a plateau thereafter. The preoperative fractal dimension in the DCP showed a significant correlation with the best-corrected visual acuity at all follow-up time points (P < 0.05).

Conclusion:
The parafoveal fractal dimension in the DCP was significantly correlated with the visual acuity before and after ERM surgery. The parafoveal fractal dimension may serve as a predictive marker for visual outcomes after ERM surgery.
Clinical efficacy and safety of modified Sijunzi decoction for the treatment of ulcerative colitis
Authors: Tian Shu Wei , Zhang Yan Ling , Wang Bin , Liu Ji Ping , Wang Chuan , Zhang Juan 
Published: January 2021

Abstract

Background:
Ulcerative colitis (UC) is a chronic non-specific intestinal inflammatory disease with unknown etiology. In recent years, the global incidence has been increasing. Sijunzi decoction (SJZD) is a traditional Chinese medicine that has been used for treatment of other diseases in previous studies as it has no side effects and it has a pharmacological effect in gastrointestinal function, immune system, ulcers, and tissue repair.

Methods:
PubMed, Embase, Cochrane Library, GeenMedical, China National Knowledge Infrastructure, Chinese Sci-tech Journals full-text Database, Chinese Biomedical Database, and Chinese Science Citation Database were searched to screen the related literatures of “ulcerative colitis” and “Jiawei Sijunzi decoction”. The research data extracted from above studies was analyzed by Review Manager 5.3 and Stata14.2 software.

Results:
This systematic review and meta-analysis will evaluate the efficacy and safety of Jiawei SJZD in the treatment of UC and provide effective evidence for clinical use.

Conclusion:
In this study, the published evidence of modified SJZD in the treatment of UC was systematically summarized and evaluated, so that it can be better applied in clinic.

INPLASY registration number:
INPLASY2020100102
Lactic dehydrogenase-lymphocyte ratio for predicting prognosis of severe COVID-19
Authors: Li Guojun , Xu Fumin , Yin Xinru , Wu Na , Li Yuanjie , Zhang Tinghong , Chen Dongfeng , Liu Kaijun , Qiu Qiu 
Published: January 2021

Abstract
To develop a useful score for predicting the prognosis of severe corona virus disease 2019 (COVID-19) patients.
We retrospectively analyzed patients with severe COVID-19 who were admitted from February 10, 2020 to April 5, 2020. First, all patients were randomly assigned to a training cohort or a validation cohort. By univariate analysis of the training cohort, we developed combination scores and screened the superior score for predicting the prognosis. Subsequently, we identified the independent factors influencing prognosis. Finally, we demonstrated the predictive efficiency of the score in validation cohort.
A total of 145 patients were enrolled. In the training cohort, nonsurvivors had higher levels of lactic dehydrogenase than survivors. Among the 7 combination scores that were developed, lactic dehydrogenase-lymphocyte ratio (LLR) had the highest area under the curve (AUC) value for predicting prognosis, and it was associated with the incidence of liver injury, renal injury, and higher disseminated intravascular coagulation (DIC) score on admission. Univariate logistic regression analysis revealed that C-reactive protein, DIC score ≥2 and LLR >345 were the factors associated with prognosis. Multivariate analysis showed that only LLR >345 was an independent risk factor for prognosis (odds ratio [OR] = 9.176, 95% confidence interval [CI]: 2.674–31.487, P < .001). Lastly, we confirmed that LLR was also an independent risk factor for prognosis in severe COVID-19 patients in the validation cohort where the AUC was 0.857 (95% CI: 0.718–0.997).
LLR is an accurate predictive score for poor prognosis of severe COVID-19 patients.
Diabetes mellitus risk after hysterectomy
Authors: Chiang Ching-Hsiang , Chen Weishan , Tsai I-Ju , Hsu Chung Y. , Wang Jen-Hung , Lin Shinn-Zong , Ding Dah-Ching 
Published: January 2021

Abstract
We explored whether hysterectomy with or without bilateral oophorectomy was associated with the increasing incidence of diabetes mellitus (DM) in an East Asian population. This was a retrospective population-based cohort study that analyzed DM risk in Taiwanese women, using a health insurance research database of 1998 to 2013 containing nearly 1 million people. We identified 7088 women aged 30 to 49 years who had undergone hysterectomy with or without oophorectomy. The comparison group included 27,845 women without a hysterectomy who were randomly selected from the population and matched to women in the hysterectomy group by age (exact year) and year of the surgery. DM comorbidities were identified. The incidence and hazard ratios for DM were calculated with Cox proportional hazard regression models. The median ages of patients in the hysterectomy and comparison groups were both approximately 44 years. After a median 7.1 years of follow-up, the incidence of DM was 40% higher in the hysterectomized women as compared with the comparisons (9.12 vs 6.78/1000 person-years, P < .001), with an adjusted hazard ratio (aHR) of 1.37 (95% confidence interval [CI] = 1.23 –1.52). However, the DM risk was not increased in the women with hysterectomy plus oophorectomy (aHR=1.28, 95% CI = 0.93–1.76). Furthermore, among women aged 30 to 39 years, 40 to 49 years, the risk in hysterectomized women was higher than the comparisons (aHR = 1.75, 95% CI = 1.27–2.41; aHR = 1.33, 95% CI = 1.19–1.49, respectively). Our study provides essential and novel evidence for the association between hysterectomy and DM risk in women aged 30 to 49 years, which is relevant to these women and their physicians. Physicians should be aware of the increased DM risk associated with hysterectomy and take this into consideration when evaluating a patient for a hysterectomy. The current results might help gynecologists prevent DM and encourage diagnostic and preventive interventions in appropriate patients.
Moderate Gastrointestinal Complications Due to “Superglue” Ingestion in a Pediatric Patient
Authors: Sabag Liat , Slae Mordechai , Millman Peri Nicole , Wexler Isaiah D. , Rekthman David 
Published: January 2021

Abstract
Childhood cases of cyanoacrylates generally do not cause moderate or severe gastrointestinal complications. We report the case of a 3-year-old boy referred to our pediatric emergency room and admitted to the pediatric department with signs of upper gastrointestinal obstruction that required invasive intervention. Although it is rare, cyanoacrylate ingestion may injure esophageal and gastric mucosa in the pediatric population.
Primary Central Nervous System Lymphoma Revealed by 68Ga-FAPI and 18F-FDG PET/CT
Authors: Zhang Ying , Cai Jiawei , Lin Zefang , Yao Shaobo , Miao Weibing 
Published: January 2021

Abstract
A 67-year-old woman presented with left limb weakness, facial paralysis, and unsteady gait for 1 month. Brain MRI detected a mass in the right frontal lobe with prominent peritumoral edema, suggesting a malignant brain tumor. In 18F-FDG PET/CT, the mass was very FDG avid, and 68Ga-FAPI PET/CT showed the mass had heterogeneously mild to moderate increased uptake of the tracer. Histopathological examination after surgical resection of the mass confirmed the diagnosis of diffuse large B-cell lymphoma. The current case indicated the existence of fibrosis in the lymphoma lesion to some extent.
Prospective and detailed behavioral phenotyping in DDX3X syndrome
Authors: Tang Lara , Levy Tess , Guillory Sylvia , Halpern Danielle , Zweifach Jessica , Kiss Ivy Giserman , Foss-Feig Jennifer H , Frank Yitzchak , Lozano Reymundo , Belani Puneet , Layton Christina , Frowner Emanuel , Breen Michael S. , De Rubeis Silvia , Kostic Ana , Kolevzon Alexander , Buxbaum Joseph D , Siper Paige M , Grice Dorothy E 
Published: January 2021

ABSTRACTBackgroundDDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay (DD) and/or intellectual disability (ID) in females and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored.MethodsWe carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures; three participants in this cohort have been previously reported. We compared results against population norms and contrasted phenotypes between individuals harboring either (i) protein-truncating variants or (ii) missense variants and in-frame deletions.ResultsEighty percent of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants.LimitationsSample size is modest, however, DDX3X is a rare and underdiagnosed disorder.ConclusionThis study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions yielding a more severe phenotype.
Epigenetic impairment and blunted transcriptional response to Mycobacterium tuberculosis of alveolar macrophages from persons living with HIV
Authors: Correa-Macedo Wilian , Fava Vinicius M. , Orlova Marianna , Cassart Pauline , Olivenstein Ron , Sanz Joaquín , Dumaine Anne , Sindeaux Renata H.M. , Yotova Vania , Pacis Alain , Girouard Josée , Kalsdorf Barbara , Lange Christoph , Routy Jean-Pierre , Barreiro Luis B. , Schurr Erwin 
Published: January 2021

AbstractPersons living with HIV (PLWH) are at increased risk of tuberculosis (TB). HIV-associated TB is often the result of recent infection with Mycobacterium tuberculosis (Mtb) followed by rapid progression to disease. Alveolar macrophages (AM) are the first cells of the innate immune system that engage Mtb, but how HIV and antiretroviral therapy (ART) impact on the anti-mycobacterial response of AM is not known. To investigate the impact of HIV and ART on the transcriptomic and epigenetic response of AM to Mtb, we obtained AM by bronchoalveolar lavage from 20 PLWH receiving ART, 16 control subjects who were HIV-free (HC), and 14 subjects who received ART as pre-exposure prophylaxis (PrEP) to prevent HIV infection.Following in-vitro challenge with Mtb, AM from each group displayed overlapping but distinct profiles of significantly up- and down-regulated genes in response to Mtb. Compared to HC subjects, AM isolated from PLWH and PrEP subjects presented a substantially weaker transcriptional response. Further investigation of chromatin structure revealed that AM from control subjects challenged with Mtb responded with pronounced accessibility changes in over ten thousand regions. In stark contrast, AM obtained from PLWH and PrEP subjects displayed no significant changes in their chromatin state in response to Mtb. Collectively, these results revealed a previously unknown adverse effect of ART on the epigenetic landscape and transcriptional responsiveness of AM.
Emergence and evolution of Plasmodium falciparum histidine-rich protein 2 and 3 deletion mutant parasites in Ethiopia
Authors: Feleke Sindew M. , Reichert Emily N. , Mohammed Hussein , Brhane Bokretsion G. , Mekete Kalkidan , Mamo Hassen , Petros Beyene , Solomon Hiwot , Abate Ebba , Hennelly Chris , Denton Madeline , Keeler Corinna , Hathaway Nicholas J. , Juliano Jonathan J. , Bailey Jeffrey A. , Rogier Eric , Cunningham Jane , Aydemir Ozkan , Parr Jonathan B. 
Published: January 2021

AbstractMalaria diagnostic testing in Africa is threatened by Plasmodium falciparum parasites lacking histidine-rich protein 2 (pfhrp2) and 3 (pfhrp3) genes. Among 12,572 subjects enrolled along Ethiopia’s borders with Eritrea, Sudan, and South Sudan and using multiple assays, we estimate HRP2-based rapid diagnostic tests would miss 9.7% (95% CI 8.5-11.1) of falciparum malaria cases due to pfhrp2 deletion. Established and novel genomic tools reveal distinct subtelomeric deletion patterns, well-established pfhrp3 deletions, and recent expansion of pfhrp2 deletion. Current diagnostic strategies need to be urgently reconsidered in Ethiopia, and expanded surveillance is needed throughout the Horn of Africa.
Noninvasive Detection of Fetal Genetic Variations through Polymorphic Sites Sequencing of Maternal Plasma DNA
Authors: Gao Song 
Published: January 2021

AbstractNon-invasive prenatal testing (NIPT) for common fetal aneuploidies using circulating cell free DNA in maternal plasma has been widely adopted in clinical practice for its sensitivity and accuracy. However, the detection of subchromosomal abnormalities or monogenetic variations showed no cost-effectiveness or satisfactory accuracy. Here we developed an assay, the goodness-of-fit and graphical analysis of polymorphic sites based non-invasive prenatal testing (GGAP-NIPT), to simultaneously detect fetal chromosomal/subchromosomal and nucleotide level abnormalities. In each sample, fetal fraction was estimated using allelic counts of reference polymorphic sites and a robust linear regression model. Then the genotype of each polymorphic site was estimated using allelic goodness of fit test. Finally, monogenic mutations were detected using allelic wildtype and mutant counts of each target site, and chromosomal/subchromosomal abnormalities were identified by collective analysis of all target polymorphic sites. Such an analytic approach was highly accurate for detecting aneuploidies, microdeletions or microduplications and monogenic mutations for simulated samples with different fetal fractions and sequencing depths. Moreover, more than 93% of fetal monogenic mutations were correctly identified for target hotspot sites amplified using circulating or barcode-enabled single-molecule assays. With the aid of sample replicates, higher detection accuracy was observed. Through target polymorphic sites sequencing, all chromosomal/subchromosomal and monogenic abnormalities could be detected simultaneously, facilitating the extension of NIPT to an expanded panel of genetic disorders in a cost-effective manner.
Disentangling the association of hydroxychloroquine treatment with mortality in Covid-19 hospitalized patients through Hierarchical Clustering
Authors: Iacoviello Licia ,   The COVID-19 RISK and Treatments (CORIST) Collaboration
Published: January 2021

AbstractThe efficacy of hydroxychloroquine (HCQ) in treating SARS-CoV-2 infection is harshly debated, with observational and intervention studies reporting contrasting results.To clarify the role of HCQ in Covid-19 patients, we carried out a retrospective observational study of 4,396 unselected patients hospitalized for Covid-19 in Italy (February-May 2020). Patients’ characteristics were collected at entry, including age, sex, obesity, smoking status, blood parameters, history of diabetes, cancer, cardiovascular and chronic pulmonary diseases and medications in use. These were used to identify subtypes of patients with similar characteristics through hierarchical clustering based on Gower distance. Using multivariable Cox regressions, these clusters were then tested for association with mortality and modification of effect by treatment with HCQ.We identified two clusters, one of 3,913 younger patients with lower circulating inflammation levels and better renal function, and one of 483 generally older and more comorbid subjects, more prevalently men and smokers. The latter group was at increased death risk adjusted by HCQ (HR[CI95%] = 3.80[3.08-4.67]), while HCQ showed an independent inverse association (0.51[0.43-0.61]), as well as a significant influence of cluster*HCQ interaction (p<0.001). This was driven by a differential association of HCQ with mortality between the high (0.89[0.65-1.22]) and the low risk cluster (0.46[0.39-0.54]). These effects survived adjustments for additional medications in use and were concordant with associations with disease severity and outcome.These findings suggest a particularly beneficial effect of HCQ within low risk Covid-19 patients and may contribute clarifying the current controversy on HCQ efficacy in Covid-19 treatment.
Post-Mendelian genetic model in COVID-19
Authors: Picchiotti Nicola , Benetti Elisa , Fallerini Chiara , Daga Sergio , Baldassarri Margherita , Fava Francesca , Zguro Kristina , Valentino Floriana , Doddato Gabriella , Giliberti Annarita , Tita Rossella , Amitrano Sara , Bruttini Mirella , Sarno Laura Di , Iuso Nicola , Alaverdian Diana , Beligni Giada , Croci Susanna , Meloni Ilaria , Pinto Anna Maria , Gabbi Chiara , Ceri Stefano , Esposito Antonio , Pinoli Pietro , Crawley Francis P. , Frullanti Elisa , Mari Francesca ,   GEN-COVID Multicenter Study, Gori Marco , Renieri Alessandra , Furini Simone 
Published: January 2021

AbstractHost genetics is an emerging theme in COVID-19 and few common polymorphisms and some rare variants have been identified, either by GWAS or candidate gene approach, respectively. However, an organic model is still missing. Here, we propose a new model that takes into account common and rare germline variants applied in a cohort of 1,300 Italian SARS-CoV-2 positive individuals. Ordered logistic regression of clinical WHO grading on sex and age was used to obtain a binary phenotypic classification. Genetic variability from WES was synthesized in several boolean representations differentiated according to allele frequencies and genotype effect. LASSO logistic regression was used for extracting relevant genes. We defined about 100 common driver polymorphisms corresponding to classical “threshold model”. Extracted genes were demonstrated to be gender specific. Stochastic rare more penetrant events on about additional 100 extracted genes, when occurred in a medium or severe background (common within the family), simulate Mendelian inheritance in 14% of subjects (having only 1 mutation) or oligogenic inheritance (in 10% having 2 mutations, in 11% having 3 mutations, etc).The combined effect of common and rare results can be described as an integrated polygenic score computed as: (nseverity − nmildness) + F (mseverity − mmildness)where n is the number of common driver genes, m is the number of driver rare variants and F is a factor for appropriately weighing the more powerful rare variants. We called the model “post-Mendelian”. The model well describes the cohort, and patients are clustered in severe or mild by the integrated polygenic scores, the F factor being calibrated around 2, with a prediction capacity of 65% in males and 70% in females. In conclusion, this is the first comprehensive model interpreting host genetics in a holistic post-Mendelian manner. Further validations are needed in order to consolidate and refine the model which however holds true in thousands of SARS-CoV-2 Italian subjects.