bluuebunny/crossref_metadata_2025_split huggingface dataset:
Leukoencephalopathy and cerebral edema as the presenting manifestations of SLE in an ANA-negative adolescent female: a case report and review of literature
Authors: Theisen Alexandra , Bose Paroma , Knight Christina , Oliver Melissa 
Published: July 2020

Abstract
Background
Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations involving multiple organ systems. Neuropsychiatric manifestations of SLE have been associated with increased morbidity and mortality, thus it is important to recognize and diagnose the disease entity and treat early. When neuropsychiatric symptoms are involved, typically there are many other systemic features to aid in the diagnosis of SLE. Many autoantibodies have been discovered and are used to help diagnose SLE. The antibody present in most cases of pediatric SLE, as well as in many other rheumatic diseases, is the nonspecific antinuclear antibody (ANA). The ANA is a commonly used screening tool by primary care physicians when evaluating a patient with a possible rheumatic disorder. However, a small subset of SLE patients, 1–5%, present with a negative ANA, and it is important to keep SLE on the differential diagnosis in specific instances when a thorough infectious, metabolic and neurological workup has been completed and proven to be inconclusive.

Case presentation
This case involves a Hispanic adolescent female with a negative ANA who presented with diffuse cerebral edema secondary to leukoencephalopathy due to SLE with central nervous system involvement. She was normotensive on presentation and relatively symptom free aside from headache. She had an extensive workup while inpatient involving metabolic, infectious disease, rheumatology, and neurology prior to obtaining the diagnosis of SLE. She was treated with cyclophosphamide and rituximab with appropriate disease response.

Conclusions
A review of the literature revealed 12 cases with SLE presenting with or developing diffuse cerebral edema and/or leukoencephalopathy. Our patient’s case differs in that she was also ANA negative despite other autoantibody positivity. While she did have low complements and transient leukopenia, she did not present with other signs of organ involvement, which made the diagnosis of SLE with neuropsychiatric involvement quite challenging. We discuss the importance of keeping SLE on the differential diagnosis despite a negative ANA in complex cases after thorough workup has been unrevealing, and to consider initial screening with not only the ANA but also dsDNA and complements to avoid missed diagnoses.
An observational study of initial HIV RNA decay following initiation of combination antiretroviral treatment during pregnancy
Authors: Alagaratnam Jasmini , Peters Helen , Francis Kate , Kay Natasha , Gilleece Yvonne , Finnerty Fionnuala P. , Grimes Rosanna E. , Parry Sarah , Portman Mags , Wait Brenton C. , Shah Rimi , Roedling Sherie , Hawkins David A. , Chitty Sarah , Sarner Liat , Marcus Rebecca , Hartley Anna , Nori Achyuta V. , Rosenvinge Melanie , Taylor Graham P. ,   the London HIV Perinatal Research Group
Published: July 2020

Abstract
Background
In pregnancy, reduction of HIV plasma viral load (pVL) for the prevention of vertical transmission is time-constrained. The study primary objective is to investigate factors associated with faster initial HIV RNA half-life decay when combination antiretroviral treatment (cART) is initiated in pregnancy.

Methods
This was a multicentre, retrospective, observational study, conducted in south England, United Kingdom, between August 2001 and February 2018. Data were extracted from case notes of eligible women initiating cART during the index pregnancy. Anonymised data were collated and analysed centrally. Regression analyses were conducted to determine factors associated with faster HIV RNA half-life decay in the first 14 days after commencing cART (first-phase), and with achieving an undetectable maternal pVL by 36 weeks’ gestation. We then assessed whether HIV- and obstetric- related parameters differed by antiretroviral third agent class and whether the proportions of women with undetectable pVL at 36 weeks’ gestation and at delivery differed by antiretroviral third agent class.

Results
Baseline pVL was the only independent factor associated with faster first-phase HIV RNA half-life decay on commencing cART. Lower pVL on day 14 after starting cART was associated with an increased likelihood of achieving an undetectable pVL by 36 weeks’ gestation. Integrase inhibitor-based cART was associated with a faster first-phase HIV RNA half-life decay on commencing cART. Overall, 73% and 85% of women had an undetectable pVL at 36 weeks’ gestation and at delivery respectively, with no significant difference by antiretroviral third agent class.

Conclusions
Only high baseline pVL independently contributed to a faster rate of first-phase viral half-life decay. pVL at 14 days after initiating cART allows early identification of treatment failure. In the first 14 days after initiating cART in pregnancy, integrase inhibitor-based cART reduced maternal pVL faster than protease inhibitor- and non-nucleoside reverse transcriptase-based cART. While our study findings support INSTI use when initiated in pregnancy especially when initiated at later gestations and in those with higher baseline pVL, other non-INSTI based cART with more data on safety in pregnancy also performed well.
Quantitative clinical assessment of motor function during and following LSVT-BIG® therapy
Authors: Flood Matthew W. , O’Callaghan Ben P. F. , Diamond Paul , Liegey Jérémy , Hughes Graham , Lowery Madeleine M. 
Published: July 2020

Abstract
Background
LSVT-BIG® is an intensively delivered, amplitude-oriented exercise therapy reported to improve mobility in individuals with Parkinson’s disease (PD). However, questions remain surrounding the efficacy of LSVT-BIG® when compared with similar exercise therapies. Instrumented clinical tests using body-worn sensors can provide a means to objectively monitor patient progression with therapy by quantifying features of motor function, yet research exploring the feasibility of this approach has been limited to date. The aim of this study was to use accelerometer-instrumented clinical tests to quantify features of gait, balance and fine motor control in individuals with PD, in order to examine motor function during and following LSVT-BIG® therapy.

Methods
Twelve individuals with PD undergoing LSVT-BIG® therapy, eight non-exercising PD controls and 14 healthy controls were recruited to participate in the study. Functional mobility was examined using features derived from accelerometry recorded during five instrumented clinical tests: 10 m walk, Timed-Up-and-Go, Sit-to-Stand, quiet stance, and finger tapping. PD subjects undergoing therapy were assessed before, each week during, and up to 13 weeks following LSVT-BIG®.

Results
Accelerometry data captured significant improvements in 10 m walk and Timed-Up-and-Go times with LSVT-BIG® (p <  0.001), accompanied by increased stride length. Temporal features of the gait cycle were significantly lower following therapy, though no change was observed with measures of asymmetry or stride variance. The total number of Sit-to-Stand transitions significantly increased with LSVT-BIG® (p <  0.001), corresponding to a significant reduction of time spent in each phase of the Sit-to-Stand cycle. No change in measures related to postural or fine motor control was observed with LSVT-BIG®. PD subjects undergoing LSVT-BIG® showed significant improvements in 10 m walk (p <  0.001) and Timed-Up-and-Go times (p = 0.004) over a four-week period when compared to non-exercising PD controls, who showed no week-to-week improvement in any task examined.

Conclusions
This study demonstrates the potential for wearable sensors to objectively quantify changes in motor function in response to therapeutic exercise interventions in PD. The observed improvements in accelerometer-derived features provide support for instrumenting gait and sit-to-stand tasks, and demonstrate a rescaling of the speed-amplitude relationship during gait in PD following LSVT-BIG®.
Detection of low-level HCV variants in DAA treated patients: comparison amongst three different NGS data analysis protocols
Authors: Caputo Valeria , Diotti Roberta Antonia , Boeri Enzo , Hasson Hamid , Sampaolo Michela , Criscuolo Elena , Bagaglio Sabrina , Messina Emanuela , Uberti-Foppa Caterina , Castelli Matteo , Burioni Roberto , Mancini Nicasio , Clementi Massimo , Clementi Nicola 
Published: July 2020

AbstractBackgroundNotwithstanding the efforts of direct-acting antivirals (DAAs) for the treatment of chronically infected hepatitis C virus (HCV) patients, concerns exist regarding the emergence of resistance-associated substitutions (RAS) related to therapy failure. Sanger sequencing is still the reference technique used for the detection of RAS and it detects viral variants present up to 15%, meaning that minority variants are undetectable, using this technique. To date, many studies are focused on the analysis of the impact of HCV low variants using next-generation sequencing (NGS) techniques, but the importance of these minority variants is still debated, and importantly, a common data analysis method is still not defined.MethodsSerum samples from four patients failing DAAs therapy were collected at baseline and failure, and amplification of NS3, NS5A and NS5B genes was performed on each sample. The genes amplified were sequenced using Sanger and NGS Illumina sequencing and the data generated were analyzed with different approaches. Three different NGS data analysis methods, two homemade in silico pipeline and one commercially available certified user-friendly software, were used to detect low-level variants.ResultsThe NGS approach allowed to infer also very-low level virus variants. Moreover, data processing allowed to generate high accuracy data which results in reduction in the error rates for each single sequence polymorphism. The results improved the detection of low-level viral variants in the HCVquasispeciesof the analyzed patients, and in one patient a low-level RAS related to treatment failure was identified. Importantly, the results obtained from only two out of the three data analysis strategies were in complete agreement in terms of both detection and frequency of RAS.ConclusionsThese results highlight the need to find a robust NGS data analysis method to standardize NGS results for a better comprehension of the clinical role of low-level HCV variants. Based on the extreme importance of data analysis approaches for wet-data interpretation, a detailed description of the used pipelines and further standardization of the in silico analysis could allow increasing diagnostic laboratory networking to unleash true potentials of NGS.
The impact on functioning of second-generation antipsychotic medication side effects for patients with schizophrenia: a worldwide, cross-sectional, web-based survey
Authors: Tandon Rajiv , Lenderking William R. , Weiss Catherine , Shalhoub Huda , Barbosa Carla Dias , Chen Jun , Greene Mallik , Meehan Stine R. , Duvold Laëtitia Bouérat , Arango Celso , Agid Ofer , Castle David 
Published: July 2020

Abstract
Background
It is well established that the different antipsychotics used for schizophrenia symptoms differ substantially in their side effects. However, relatively little is known about the impact of these side effects on functioning from the patient’s perspective. We aimed to understand how key side effects of second-generation antipsychotics impact the functioning and quality of life (QoL) of patients with schizophrenia.

Methods
This is a cross-sectional, web-based survey of patient-reported side effect burden of antipsychotic drugs in adults with schizophrenia. The survey was deployed in the United States, Canada, Australia, Spain, Italy, Norway, and Denmark. It included sociodemographic and clinical questions, the Quality of Life Enjoyment and Satisfaction Questionnaire Short Form (Q-LES-Q-SF), and the Glasgow Antipsychotic Side-Effect Scale (GASS). Eight pre-defined key side effects classified as activating (“Shaky hands or arms,” “Restlessness,” and “Difficulty sleeping”), sedating (“Sleepy during the day”, “Feeling drugged or like a zombie,” and “Feeling dizzy/Fainted”) or other side effects (“Problems enjoying sex” and “Gaining weight”), and additional questions related to impacts on function and quality of life were asked.

Results
In total, 435 participants (mean age: 38 years, 53.8% female) were included. The total Q-LES-Q-SF score indicated overall medium satisfaction with their quality of life (score of 44.3; possible range 14–70). The most prevalent side effects were “Sleepy during the day” (83.2%), “Difficulty sleeping” (74.7%), “Dry mouth” (63.9%), “Problems enjoying sex” (53.4%) and “Gaining weight” (52.4%). Women reported the side effects of “Sleepy during the day”, “Problems enjoying sex” and “Gaining weight” more frequently than men. Key side effects impacted physical, social, occupational and psychological aspects of functioning. Patients with key side effects often felt frustrated by their experiences. Total Q-LES-Q-SF score showed a significant inverse correlation with the score of pre-defined groups of side effects indicating worse QoL in association with more severe key side effects in these patients.

Conclusion
Stable patients with schizophrenia taking second-generation antipsychotics live with many side effects, including activating and sedating side effects, sexual side effects, and weight gain. Presence of these side effects is associated with substantial impacts across all aspects of daily functioning and lower quality of life and satisfaction.
Misinformation and de-contextualization: international media reporting on Sweden and COVID-19
Authors: Irwin Rachel Elisabeth 
Published: July 2020

AbstractIn the first month of the 2020 COVID-19 pandemic, Sweden took the same strategy as most other countries, working to “flatten the curve,” by slowing transmission so that the healthcare system could cope with the disease. However, unlike most other countries, much of Sweden’s implementation focused on voluntary and stepwise action, rather than legislation and compulsory measures, leading to considerable attention in the international media.Six main narratives emerged in the international media reporting on Sweden during the first month of the COVID-19 pandemic: (1) Life is normal in Sweden, (2) Sweden has a herd immunity strategy, (3) Sweden is not following expert advice, (4) Sweden is not following WHO recommendations (5) the Swedish approach is failing and (6) Swedes trust the government. While these narratives are partially grounded in reality, in some media outlets, the language and examples used to frame the story distorted the accuracy of the reporting.This debate examines the ways in which international media both constructs and represents a pandemic, and the implications for how researchers engage with news and social media. Cross-country comparison and the sharing of best practice are reliant on accurate information. The Swedish example underlines the importance of fact checking and source critique and the need for precision when presenting data and statistics. It also highlights limitations of using culture as an explanation for behavior, and the pitfalls of evaluating policy during a pandemic.
Three-dimensional-printed customized prosthesis for pubic defect: prosthesis design and surgical techniques
Authors: Zhang Yuqi , Min Li , Lu Minxun , Wang Jie , Wang Yitian , Luo Yi , Zhou Yong , Duan Hong , Tu Chongqi 
Published: July 2020

AbstractBackgroundThis study is to describe the detailed design and surgical techniques of three-dimensional (3D)-printed customized prosthesis for pubic bone defect.Patients and methodsFive patients under type III resections were included in this study. Based on radiography data, 3D pelvic model was established and virtual surgery was simulated. Detailed anatomy data were measured including the size and arc of normal pubis, the size of residual bone in acetabular side. Different fixation ways were considered according to shape of defect. After features modification and porous structure design, prostheses were fabricated. The osteotomy guides and plastic models were used during surgery.ResultOf 5 cases, the prostheses consist of the type with stem (3, 60%) and the type without stem (2, 40%). Mean follow-up period was 13.6 months (range, 8-24 months). For partial pubis removed cases, the mean length and width of narrowest part of normal superior pubis were 13.19 mm (range, 12.51-14.12 mm) and 7.80 mm (range, 7.18-8.26 mm) respectively. Mean arc of normal pubis was 2.71 rad (range, 2.66-2.73 rad). For the entire pubis resection cases, the mean diameter of narrowest parts and length of normal superior pubis were 11.52 mm (range, 11.13-11.91 mm) and 64.78 mm (range, 63.46-66.09 mm), while the diameter of narrowest part and length of normal inferior pubis were 7.37 mm (range, 7.20-7.54 mm) and 86.43 mm (range, 84.28-88.57 mm). Mean length and arc of intramedullary stem was 20 mm (range, 18-21 mm) and 2.7 rad. Mean screw holes number was 6.3 (range, 6-7) while ultimate screws number in surgeries was 4.3 (range, 4-5). Porous structure with 600-μm-pore size and 70% porosity was applied in parts of contact with residual bone.Conclusion3D-printed customized prostheses could be a feasible option to reconstruct bone defect after type III resection. The design of 3D-printed customized prostheses is a multi-step process which is based on strict anatomic measurement.
Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding
Authors: Beckman Joan D. , Li Quefeng , Hester Samuel T. , Leitner Ofri , Smith Karen L. , Kasthuri Raj S. 
Published: July 2020

Abstract
Background
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent, spontaneous bleeding and development of iron deficiency anemia. The primary objective of this study was to ascertain the relationship between epistaxis severity scores (ESS), laboratory values, genotype, and phenotype in HHT. Our secondary objective was to assess efficacy of systemic antifibrinolytic therapy in reducing ESS in HHT.

Methodology
We conducted a retrospective review of patients seen at the UNC HHT Center from January 1, 2009 to February 28, 2015. ESS, demographics, and results of genetic testing were abstracted from the medical record. Response to antifibrinolytic therapy was evaluated by comparing pre-post ESS.

Results
One hundred and forty nine patients were eligible with 116 having genetic testing and 33 without. Age, hemoglobin and ferritin levels were predictive of ESS. Of the 116 patients that underwent genetic testing: 63 had an ACVRL1 mutation, 40 had an ENG mutation, 2 had a SMAD4 mutation, and 11 patients had no pathologic HHT genetic variation detected. Compared to patients without a detectable HHT-associated genetic variation, patients with a HHT-associated genetic variation had higher ESS scores (p < 0.05). Neither ESS nor genotype was predictive of pulmonary or brain AVMs. Twenty-four HHT patients with ESS > 4 were started on antifibrinolytic therapy (tranexamic acid or aminocaproic acid) and had a post-treatment ESS recorded. All patients had a decrease in ESS of > 0.71 (minimal meaningful difference), but patients taking antifibrinolytics displayed larger decreases. No patients on antifibrinolytics experienced a VTE with median follow up of 13 months.

Conclusions
We demonstrate that the ESS correlates with age, hemoglobin and ferritin. Additionally, we demonstrate that HHT patients with genetic mutations have higher ESS scores. Our data demonstrate that antifibrinolytics are effective in decreasing epistaxis severity and safe with long-term use in HHT patients.
Deciphering cellular transcriptional alterations in Alzheimer’s disease brains
Authors: Wang Xue , Allen Mariet , Li Shaoyu , Quicksall Zachary S. , Patel Tulsi A. , Carnwath Troy P. , Reddy Joseph S. , Carrasquillo Minerva M. , Lincoln Sarah J. , Nguyen Thuy T. , Malphrus Kimberly G. , Dickson Dennis W. , Crook Julia E. , Asmann Yan W. , Ertekin-Taner Nilüfer 
Published: July 2020

AbstractLarge-scale brain bulk-RNAseq studies identified molecular pathways implicated in Alzheimer’s disease (AD), however these findings can be confounded by cellular composition changes in bulk-tissue. To identify cell intrinsic gene expression alterations of individual cell types, we designed a bioinformatics pipeline and analyzed three AD and control bulk-RNAseq datasets of temporal and dorsolateral prefrontal cortex from 685 brain samples. We detected cell-proportion changes in AD brains that are robustly replicable across the three independently assessed cohorts. We applied three different algorithms including our in-house algorithm to identify cell intrinsic differentially expressed genes in individual cell types (CI-DEGs). We assessed the performance of all algorithms by comparison to single nucleus RNAseq data. We identified consensus CI-DEGs that are common to multiple brain regions. Despite significant overlap between consensus CI-DEGs and bulk-DEGs, many CI-DEGs were absent from bulk-DEGs. Consensus CI-DEGs and their enriched GO terms include genes and pathways previously implicated in AD or neurodegeneration, as well as novel ones. We demonstrated that the detection of CI-DEGs through computational deconvolution methods is promising and highlight remaining challenges. These findings provide novel insights into cell-intrinsic transcriptional changes of individual cell types in AD and may refine discovery and modeling of molecular targets that drive this complex disease.
Evidence for a causal role by human papillomaviruses in prostate cancer – a systematic review
Authors: Lawson James S. , Glenn Wendy K. 
Published: July 2020

AbstractIt is hypothesised that high risk for cancer human papillomaviruses (HPVs) have a causal role in prostate cancer.In 26 case control studies, high risk HPVs have been identified in benign and prostate cancers. High risk HPVs were identified in 325 (22.6%) of 1284 prostate cancers and in 113 (8.6%) of 1313 normal or benign prostate controls (p = 0.001).High risk HPVs of the same type have been identified in both normal and benign prostate tissues prior to the development of HPV positive prostate cancer. High risk HPVs can be associated with inflammatory prostatitis leading to benign prostate hyperplasia and later prostate cancer. Normal human prostate epithelial cells can be immortalised by experimental exposure to HPVs. HPVs are probably sexually transmitted.The role of HPVs in prostate cancer is complex and differs from HPVs associated cervical cancer. HPV infections may initiate prostate oncogenesis directly and influence oncogenesis indirectly via APOBEC enzymes. HPVs may collaborate with other pathogens in prostate oncogenesis.Although HPVs are only one of many pathogens that have been identified in prostate cancer, they are the only infectious pathogen which can be prevented by vaccination.A causal role for HPVs in prostate cancer is highly likely.