bluuebunny/crossref_metadata_2025_split huggingface dataset:
Calcified extra-axial cavernous malformation arising from lower cranial nerves
Authors: Ke Daibo , Deng Xueyun , Li Xiang , Li Jiuhong , Hui Xuhui 
Published: February 2021

Abstract

Rationale:
Extra-axial cavernous malformations (ECMs) arising from cranial nerves (CNs) are rare. Complete “en bloc” lesion resection and hemosiderin-stained tissue preservation remain the standard treatment, while a different strategy may be needed when the lesion is highly calcified . We report the 3rd calcified ECM-CN and review the clinical features and surgical strategy for this rare condition considering previous literature.

Patient concerns:
We present a 52-year-old woman with a calcified lesion located in the right lower 1/3 of the cerebellopontine angle.

Diagnosis:
The diagnosis was calcified ECM-CNs according to the pathological and radiological features.

Interventions:
A posterior midline craniotomy was performed, and piecemeal resection of the lesion was carried out. Subtotal resection of the lesion was achieved with a small piece left in situ.

Outcomes:
No symptom or lesion-related recurrence was found during 28 months of follow-up.

Lessons:
Calcified ECM-CNs are unique cavernous malformations arising from CNs. Piecemeal resection and subtotal or near-total excision are 2 major aspects that differ from the surgical strategy for general ECM-CNs.
Magnetic resonance imaging and contrast-enhanced ultrasound findings of a recurrent primary breast angiosarcoma
Authors: Yang Ou Ou , Lan Tian , He Jun Ling , Xu Hai Bin , Hao Liang , Shu Chang , Hu Zu Jian , Luo Hua 
Published: February 2021

Abstract

Rationale:
Primary breast angiosarcoma (PBA) is a rare and overly aggressive entity and account for less than 1% of all breast cancer cases. PBA had a high rate of delayed preoperative diagnosis due to absent distinctive radiographic characteristics.

Patient concerns:
We report a case of a 47-year-old female patient who had a previous history of luminal cancer in the right breast with mastectomy; the patient complained of asymmetrically diffuse enlarged, accompanying with a painless mass in the left breast 12 years after the mastectomy of her right breast.

Diagnoses:
The tumor mimicked idiopathic granulomatous mastitis on magnetic resonance imaging (MRI) at the first presentation. Contrast-enhanced ultrasound (CEUS) was performed for further lesion characterization and showed heterogeneous rapid hyper enhanced. An ultrasound-guided core needle biopsy was performed, and the pathology report indicated a breast angiosarcoma.

Interventions:
The patient underwent a nipple-sparing simple mastectomy with immediate reconstruction of the left breast.

Outcomes:
After 8 months later, the tumor recurred, CEUS and MRI examination suggested PBA recurrence, then re-excision with implant removal was performed, the patient had a lung metastasis 4 months later eventually died 22 months after diagnosis.

Lessons:
It is not easy to diagnose PBA with the radiographic examination. This case's importance is by combining CEUS and MRI to reflect enhanced morphology and hemodynamic characteristics of PBA and help diagnose breast angiosarcomas.
Efferocytosis of SARS-CoV-2-infected dying cells impairs macrophage anti-inflammatory functions and clearance of apoptotic cells
Authors: Salina Ana C. G. , dos-Santos Douglas , Rodrigues Tamara S. , Fortes-Rocha Marlon , Freitas-Filho Edismauro G. , Alzamora-Terrel Daniel L. , Castro Ícaro M. S. , Fraga da Silva Thais F. C. , de Lima Mikhael H. F. , Nascimento Daniele C. , Silva Camila M. , Toller-Kawahisa Juliana E. , Becerra Amanda , Oliveira Samuel , Caetité Diego B. , Almeida Leticia , Ishimoto Adriene Y. , Lima Thais M. , Martins Ronaldo B. , Veras Flavio , do Amaral Natália B. , Giannini Marcela C. , Bonjorno Letícia P. , Lopes Maria I. F. , Benatti Maira N. , Batah Sabrina S. , Santana Rodrigo C. , Vilar Fernando C. , Martins Maria A. , Assad Rodrigo L. , de Almeida Sergio C. L. , de Oliveira Fabiola R. , Neto Eurico Arruda , Cunha Thiago M. , Alves-Filho José C. , Bonato Vânia L. D. , Cunha Fernando Q. , Fabro Alexandre T. , Nakaya Helder I. , Zamboni Dario S. , Louzada-Junior Paulo , Oliveira Rene D. R. , Cunha Larissa D. 
Published: February 2021

AbstractCOVID-19 is a disease of dysfunctional immune responses, but the mechanisms triggering immunopathogenesis are not established. The functional plasticity of macrophages allows this cell type to promote pathogen elimination and inflammation or suppress inflammation and promote tissue remodeling and injury repair. During an infection, the clearance of dead and dying cells, a process named efferocytosis, can modulate the interplay between these contrasting functions. Here, we show that engulfment of SARS-CoV2-infected apoptotic cells exacerbates inflammatory cytokine production, inhibits the expression of efferocytic receptors, and impairs continual efferocytosis by macrophages. We also provide evidence supporting that lung monocytes and macrophages from severe COVID-19 patients have compromised efferocytic capacity. Our findings reveal that dysfunctional efferocytosis of SARS-CoV-2-infected cell corpses suppress macrophage anti-inflammation and efficient tissue repair programs and provide mechanistic insights for the excessive production of pro-inflammatory cytokines and accumulation of tissue damage associated with COVID-19 immunopathogenesis.
Single-Particle Counting Based on Digital Plasmonic Nanobubble Detection for Rapid and Ultrasensitive Diagnostics
Authors: Liu Yaning , Ye Haihang , Huynh HoangDinh , Kang Peiyuan , Xie Chen , Kahn Jeffrey S. , Qin Zhenpeng 
Published: February 2021

AbstractRapid and sensitive diagnostics of infectious diseases is an urgent and unmet need as evidenced by the COVID-19 pandemic. Here we report a novel strategy, based on DIgitAl plasMONic nanobubble Detection (DIAMOND), to address these gaps. Plasmonic nanobubbles are transient vapor bubbles generated by laser heating of plasmonic nanoparticles and allow single-particle detection. Using gold nanoparticles labels and an optofluidic setup, we demonstrate that DIAMOND achieves a compartment-free digital counting and works on homogeneous assays without separation and amplification steps. When applied to the respiratory syncytial virus diagnostics, DIAMOND is 150 times more sensitive than commercial lateral flow assays and completes measurements within 2 minutes. Our method opens new possibilities to develop single-particle digital detection methods and facilitate rapid and ultrasensitive diagnostics.One Sentence SummarySingle-particle digital plasmonic nanobubble detection allows rapid and ultrasensitive detection of viruses in a one-step homogeneous assay.
Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis
Authors: Ajaz Sadia , Zaidi Sani-e-Zehra , Ali Saleema Mehboob , Siddiqa Aisha , Memon Muhammad Ali , Firasat Sadaf , Abid Aiysha , Khaliq Shagufta 
Published: February 2021

AbstractPurposeDeletion of Glutathione S-Transferase Theta 1 (GSTT1) encoding gene is implicated in breast cancer susceptibility, clinical outcomes, and survival. Contradictory results have been reported in different studies. The present investigation evaluated GSTT1-absent genotype for its’ contribution to breast cancer risk in Pakistani population and specific clinical outcomes in breast tumours.MethodsA prospective study comprising case-control analysis and case series analysis components was designed. Peripheral blood samples were collected from enrolled participants. After DNA extraction, GSTT1 genotyping was carried out by a multiplex PCR with β-globin as an amplification control. Association evaluation of GSTT1 genotypes with breast cancer risk, specific tumour characteristics, and survival was the primary endpoint.ResultsA total of 264 participants were enrolled in the molecular investigation (3 institutions). The study included 121 primary breast cancer patients as cases and 143 age-matched female subject, with no history of any cancer, as controls. A significant genetic association between GSTT1-absent genotype and breast cancer susceptibility (p-value: 0.003; OR: 2.13; 95% CI: 1.08-4.29) is reported. The case-series analysis showed lack of association of GSTT1 genotypes with tumour stage (p-value: 0.12), grade (p-value: 0.32), and size (p-value: 0.07). The survival analysis revealed that GSTT1-absent genotype cases had a statistically significant shorter overall survival (OS) than those with GSTT1-present genotype cases (mean OS: 23 months vs 33 months). The HR (95% CI) for OS in patients carrying GSTT1-absent genotype was 8.13 (2.91-22.96) when compared with GSTT1-present genotype.ConclusionsThe present study is the first report of an independent, population-oriented significant genetic association between GSTT1-absent genotype and breast cancer susceptibility as well as OS in breast cancer cases. Upon further validation, GSTT1 variation may serve as a marker for devising better and population-specific strategies for screening and treatment in breast cancer management.
Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses
Authors: Sahajpal Nikhil Shri , Barseghyan Hayk , Kolhe Ravindra , Hastie Alex , Chaubey Alka 
Published: February 2021

AbstractGlobal medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing for the detection and prevention of genetic disorders. Historically, cytogenetic methods such as karyotype analysis, fluorescent in situ hybridization (FISH), and chromosomal microarray (CMA) are utilized worldwide to diagnose common syndromes. However, the limitations of each of these methods, either performed in tandem or simultaneously, demonstrates the need of a revolutionary technology that can alleviate the need of multiple technologies. Optical genome mapping (OGM) is a novel technology that fills this void by being able to detect all classes of structural variations (SVs), including copy number variations (CNVs). OGM is being adopted by laboratories as a next-generation cytogenomic tool for both postnatal constitutional genetic disorders and hematological malignancies. This commentary highlights the potential of OGM to become a standard of care in prenatal genetic testing by its ability to identify large balanced and unbalanced SVs (currently the strength of karyotyping and metaphase FISH), CNVs (by CMA), repeat contraction disorders (by Southern blotting) and multiple repeat expansion disorders (by PCR based methods or Southern blotting). Also, next-generation sequencing (NGS) methods are excellent at detecting sequence variants but are unable to accurately detect the repeat regions of the genome which limits the ability to detect all classes of SVs. Notably, multiple molecular methods are used to identify repeat expansion and contraction disorders in routine clinical laboratories around the world. With non-invasive prenatal screening test (NIPT) as the standard of care screening assay for all global pregnancies, we anticipate OGM as a high-resolution cytogenomic diagnostic tool employed following a positive NIPT screen or for high-risk pregnancies with an abnormal ultrasound. Accurate detection of all types of genetic disorders by OGM, such as liveborn aneuploidies, sex chromosome anomalies, microdeletion/microduplication syndromes, repeat expansion/contraction disorders is key to reducing the global burden of genetic disorders.
Machine learning algorithm to predict delirium from emergency department data
Authors: Lee Sangil , Mueller Brianna , Street W. Nick , Carnahan Ryan M. 
Published: February 2021

AbstractIntroductionDelirium is a cerebral dysfunction seen commonly in the acute care setting. Delirium is associated with increased mortality and morbidity and is frequently missed in the emergency department (ED) by clinical gestalt alone. Identifying those at risk of delirium may help prioritize screening and interventions.ObjectiveOur objective was to identify clinically valuable predictive models for prevalent delirium within the first 24 hours of hospitalization based on the available data by assessing the performance of logistic regression and a variety of machine learning models.MethodsThis was a retrospective cohort study to develop and validate a predictive risk model to detect delirium using patient data obtained around an ED encounter. Data from electronic health records for patients hospitalized from the ED between January 1, 2014, and December 31, 2019, were extracted. Eligible patients were aged 65 or older, admitted to an inpatient unit from the emergency department, and had at least one DOSS assessment or CAM-ICU recorded while hospitalized. The outcome measure of this study was delirium within one day of hospitalization determined by a positive DOSS or CAM assessment. We developed the model with and without the Barthel index for activity of daily living, since this was measured after hospital admission.ResultsThe area under the ROC curves for delirium ranged from .69 to .77 without the Barthel index. Random forest and gradient-boosted machine showed the highest AUC of .77. At the 90% sensitivity threshold, gradient-boosted machine, random forest, and logistic regression achieved a specificity of 35%. After the Barthel index was included, random forest, gradient-boosted machine, and logistic regression models demonstrated the best predictive ability with respective AUCs of .85 to .86.ConclusionThis study demonstrated the use of machine learning algorithms to identify the combination of variables that are predictive of delirium within 24 hours of hospitalization from the ED.
Microbiota long-term dynamics and prediction of acute graft-versus-host-disease in pediatric allogeneic stem cell transplantation
Authors: Ingham Anna Cäcilia , Kielsen Katrine , Mordhorst Hanne , Ifversen Marianne , Aarestrup Frank M. , Müller Klaus Gottlob , Pamp Sünje Johanna 
Published: February 2021

AbstractBackgroundPatients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) exhibit changes in their gut microbiota and are experiencing a range of complications, including acute graft-versus-host disease (aGvHD). It is unknown if, when, and under which conditions a re-establishment of microbial and immunological homeostasis occurs. It is also unclear whether microbiota long-term dynamics occur at other body sites than the gut such as the mouth or nose. Moreover, it is not known whether the patients’ microbiota prior to HSCT holds clues to whether the patient would suffer from severe complications subsequent to HSCT. Here, we performed integrated host-microbiota analyses of the gut, oral, and nasal microbiotas in 29 children undergoing allo-HSCT.ResultsThe bacterial diversity decreased in the gut, nose, and mouth during the first month and reconstituted again 1-3 months after allo-HSCT. The microbial community composition traversed three phases over one year. Distinct taxa discriminated the microbiota temporally at all three body sides, includingEnterococcusspp.,Lactobacillusspp., andBlautiaspp. in the gut. Of note, certain microbial taxa appeared already changed in the patients prior to allo-HSCT as compared to healthy children. Acute GvHD occurring after allo-HSCT could be predicted from the microbiota composition at all three body sites prior to HSCT, in particular fromParabacteroides distasonis,LachnospiraceaeNK4A136 sp. andLactobacillussp. abundances in the gut. The reconstitution of CD4+ T cells, TH17 and B cells was associated with distinct taxa of the gut, oral, and nasal microbiota.ConclusionsThis study reveals for the first time bacteria in the mouth and nose that may predict aGvHD. Surveillance of the microbiota at different body sites in HSCT may be of prognostic value and could assist in guiding personalized treatment strategies. The identification of distinct bacteria that have a potential to predict post-transplant aGvHD might provide opportunities for an improved preventive clinical management, including a modulation of microbiomes. The host-microbiota associations shared between several body sites might also support an implementation of more feasible oral and nasal swab sampling-based analyses. Altogether, the findings suggest that both, host factors and the microbiota, could provide actionable information to guiding precision medicine.
A Scoping Review of Community-Based Geriatric Health Assessment and Screening Tools used in South Asia
Authors: Panigrahi Sucharita , Bhoi Trilochan , Pati Sanghamitra , Kshatri Jaya Singh 
Published: February 2021

AbstractBackgroundHome-based comprehensive assessment and integrated care of the older people could be a key to relieve the pressure on the already overburdened health system. This review summarises evidence on validated community-based geriatric health assessment tools in South Asia.MethodsGuided by Arksey and O’Malley’s five-stage scoping review framework, a total of 46 studies were included in the scoping review after searching from electronic databases and reference lists using predefined eligibility criteria. Data were extracted on main characteristics of included studies, identified instruments and their psychometric properties of the tools. This review was reported in accordance with PRISMA-ScR guidelines.ResultsAmong the 46 included studies, 10 reported on instruments for medical assessment, 12 on tools for psychological conditions, 13 on tools for functional issues, 2 on social wellbeing, and 9 on tools with multiple domains of health. Most studies included participants from both gender and different social classes. Majority used measurements that were both self-reported or measured by the investigator. whereas only two instruments were designed to be used by clinicians. In the existing geriatric health assessment tools, environmental domain was neglected completely, and not a single tool considered in this review covered all 5 domains which influence regular life of elderly.ConclusionThere are no validated tools available that can be used for comprehensive geriatric assessment in South Asia. There is a need to develop and validate culturally sensitive tools that can be used for assessing all the geriatric health domains.
Learning Decision Thresholds for Risk-Stratification Models from Aggregate Clinician Behavior
Authors: Patel Birju S. , Steinberg Ethan , Pfohl Stephen R. , Shah Nigam H. 
Published: February 2021

ABSTRACTUsing a risk-stratification model to guide clinical practice often requires the choice of a cutoff - called the decision threshold - on the model’s output to trigger a subsequent action such as an electronic alert. Choosing this cutoff is not always straightforward. We propose a flexible approach that leverages the collective information in treatment decisions made in real life to learn reference decision thresholds from physician practice. Using the example of prescribing a statin for primary prevention of cardiovascular disease based on 10-year risk calculated by the 2013 Pooled Cohort Equations, we demonstrate the feasibility of using real world data to learn the implicit decision threshold that reflects existing physician behavior. Learning a decision threshold in this manner allows for evaluation of a proposed operating point against the threshold reflective of the community standard of care. Furthermore, this approach can be used to monitor and audit model-guided clinical decision-making following model deployment.
Aetiologies of chronic cough diagnosed using a pathophysiologic diagnostic procedure and their treatment outcomes
Authors: Hara Johsuke , Fujimura Masaki , Yasui Masahide , Takeda Reiko , Ohkura Noriyuki 
Published: February 2021

AbstractBackgroundWe previously elucidated the fundamental pathophysiological features of various aetiologies of chronic cough, such as cough variant asthma, atopic cough, and sinobronchial syndrome. We also established a pathophysiological diagnostic procedure for aetiology identification. In this study, we aimed to disclose the aetiologies of chronic cough using the pathophysiological diagnostic procedure and to determine the outcomes of treatment administered on the basis of aetiology.Patients and MethodsWe retrospectively reviewed the medical records of patients with chronic cough who visited our cough specialty clinic from September 2013 to August 2018 and analyzed the pathophysiological diagnostic procedure-based aetiologies and corresponding treatments. The pathophysiological diagnostic procedure included the capsaicin cough test, methacholine cough test, bronchial reversibility test, bronchial responsiveness test, chest and sinus CT, and sputum examinations.ResultsInitially, 303 patients were selected, and 300 patients underwent the diagnostic procedure. Aetiologies of chronic cough were diagnosed in 297 patients (99.0%). In the other three patients (1.0%), all results of the diagnostic procedure were within normal limits; their aetiologies were evaluated using the therapeutic diagnostic procedure. Tweleve patients discontinued follow-up before completing treatment. Of the 291 remaining patients, cough resolved completely in 283 patients. The median time required for the complete resolution of cough was 5.0 weeks (95% CI 4.3∼5.7 weeks).ConclusionsThe pathophysiological diagnostic procedure can lead to rapid and objective diagnosis of causes of chronic cough, which leads to superior treatment results compared to therapeutic diagnostic procedure.Trial registration numberUMIN ID: UMIN000018679Key MessagesOur pathophysiological diagnostic procedure can lead to rapid and objective diagnosis of the aetiology of chronic cough, leading to superior treatment results compared to those of therapeutic diagnostic procedures.