bluuebunny/crossref_metadata_2025_split huggingface dataset:
CLINICAL VARIANTS OF PRESUMED ACUTE FOVEALITIS
Authors: Moraes Remo Turchetti , Vianna Raul N. G. , Cunha de Souza Eduardo , Moraes Lucas Silveira 
Published: November 2020

Purpose:
To describe four eyes of three patients with presumed acute fovealitis to expand the clinical variants of this recently described disorder.

Method:
The patients underwent a comprehensive ophthalmic examination, including multimodal imaging and electrophysiological tests.

Results:
Three female patients aged from 18 to 24 years presented sudden central visual disturbances in one or both eyes. The visual acuity ranged from 20/25 to 20/70 in the affected eyes. All of them showed a subtle yellowish lesion in the foveola. Fundus autofluorescence and fluorescein angiography were unremarkable. Optical coherence tomography disclosed focal disarrangement of the outer retinal layers restricted to the fovea and hyperreflective lesions above the external limiting membrane. Multifocal electroretinography responses were attenuated. The electrooculogram response was normal. All patients recovered normal visual acuity and the outer retinal layers.

Conclusion:
Attenuated multifocal electroretinography foveal response and normal electrooculogram are newly described clinical findings in patients with acute fovealitis.
US Department of Defense Warfighter Brain Health Initiative: Maximizing performance on and off the battlefield
Authors: Lee Katherine M. , Khatri Trisha L. , Fudge Elizabeth R. 
Published: November 2020

ABSTRACT
The US Department of Defense (DoD) recognizes the importance of warfighter brain health with the establishment of the Warfighter Brain Health Initiative and Strategy. For a warfighter, also known as a service member, to perform at their highest level, cognitive and physical capabilities must be optimized. This initiative addresses brain health, brain exposures, to include blast overpressure exposures from weapons and munitions, traumatic brain injury (TBI), and long-term or late effects of TBI. The DoD's pursuit of maximal strength hinges on the speed of decisions (neurocognitive) and detection of brain injury when it occurs. The strategy creates a framework for deliberate, prioritized, and rapid development of end-to-end solutions for warfighter brain health. Through this strategy, DoD is addressing the needs of our service members, their families, line leaders/commanders, and their communities at large. The implications of this initiative and strategy are noteworthy for practitioners because the DoD Warfighter Brain Health construct lends itself to nurse practitioner engagement in clinical practice, patient education, policy development, and emerging research.
Nasoalveolar Molding: Assessing the Burden of Care
Authors: Wlodarczyk Jordan R. , Wolfswinkel Erik M. , Fahradyan Artur , Rhee Claire , Liu Alice , Gibreel Waleed , Magee William , Urata Mark M. , Hammoudeh Jeffrey A. 
Published: November 2020

Abstract
Over the last 3 years a shift at our institution has taken place in which patients who would have been offered nasoalveolar molding (NAM) as an adjunct to cleft lip repair (repair after 3 months) have instead undergone early cleft lip repair (ECLR) (2–5 weeks of life) without NAM. This study sought to examine the financial and social impact of the transition away from NAM to ECLR. The efficacy of NAM is limited by patient compliance to a rigorous treatment schedule requiring weekly visits for appliance adjustments. Nasoalveolar molding patients required an average of 11 dental visits, accounting for $2132 in indirect lost income per family. Average direct charges for NAM totaled $12,290 for the hospital, physician, and appliance costs. Over the entire study period, the cumulative direct cost of NAM separate from the surgical repair of the lip was $970,910. Following the introduction of ECLR as an alternative to NAM with standard lip repair, NAM usage decreased by 48% and unilateral cleft lip patients undergoing NAM decreased by 86%. Those diverted from NAM to ECLR resulted in a decreased healthcare cost burden of $368,700 ($111,727 per year). In addition to the time burden, the financial burden of NAM is significant. Early cleft lip repair without NAM is more cost effective. Nasoalveolar molding has significantly decreased utilization since the implementation of ECLR. We believe that ECLR, with increased experience, long-term data, and increased awareness, has the potential to decrease the burden of health care costs in the United States.
Home Language Environment of Children With Orofacial Clefts as a Target for Intervention
Authors: Gallagher Emily R. , Wallace Erin , Thach Jenny , Kinter Sara , Collett Brent R. 
Published: November 2020

Objective:
To evaluate the home language environment (HLE) in children with orofacial clefts as a potential modifiable target for language and literacy intervention.

Design:
Feasibility study examining longitudinal trends in HLE and responses to parent-focused literacy intervention.

Setting:
Tertiary care children's hospital.

Participants:
HLE data were collected for 38 children with orofacial clefts between ages 7 and 23 months. Twenty-seven participants received parent-focused literacy intervention.

Interventions:
Reach Out and Read, a literacy intervention, was introduced during a clinic visit. To assess response, participants were randomized to age at intervention (9, 18, or 24 months).

Main Outcome Measures:
Primary outcome measures included measurements from recordings in the home language environment of adult word count, child vocalizations, and conversational turns.

Results:
Baseline (preintervention) results showed lower adult word count and conversational turns for caregivers and children with cleft lip and palate, as well as for those from lower socioeconomic groups. After the literacy intervention was introduced, this cohort showed increasing measures of child and caregiver vocalizations, particularly when introduced at 18 months.

Conclusions:
Although these results are preliminary, findings suggest that HLE characteristics vary as a function of children's cleft type as well as family socioeconomic status. Further, our caregiver-focused literacy intervention was feasible and resulted in short-term improvements in HLE. This is the first study to document HLE as a target for intervention in children with oral clefts. These findings support further research on HLE and caregiver-focused intervention to improve language/literacy outcomes for children with oral clefts.
Malignant Melanoma Arising From a Giant Congenital Melanocytic Nevus in a 3-Year Old: Review of Diagnosis and Management
Authors: Kugar Meredith , Akhavan Arya , Ndem Idorenyin , Ollila David , Googe Paul , Blatt Julie , Wood Jeyhan 
Published: November 2020

Introduction:
Giant congenital nevi (GCN), defined as abnormal collections of melanocytes with a diameter greater than 20 cm, occur in 1 in 20,000 births. The lifetime risk of malignant transformation in GCN is reported between 5% and 20% and most commonly occurs in the first 3 to 5 years of life. This article reviews the risk factors of malignant transformation and highlights the diagnostic challenges of malignant melanoma in the pediatric population utilizing a clinical report of a patient with GCN.

Case Description:
A male patient with giant congenital nevus of the scalp with over 20 satellite nevi was evaluated at the authors’ institution at 1 week of life. Beginning at 9 months of age, he underwent serial excision of GCN and satellite lesions. Initial pathology showed compound congenital melanocytic nevus. Subsequent pathology on serial excisions demonstrated compound nevus with clonal expansion of pigmented epithelioid melanocytoma (PEM). He then underwent complete excision of GCN. Pathology demonstrated malignant melanoma that was confirmed by consensus review with outside institutions. The patient was diagnosed with stage III metastatic melanoma after further imaging. He was treated with cervical nodal dissection and interferon alpha-2b. At the time of last visit, the patient had no evidence of melanoma.

Discussion:
This case highlights the difficulties of clinical and pathologic diagnosis of malignant melanoma in the setting of GCN. Pathology can vary between biopsy sites and initial biopsies can suggest nonmalignant melanocytic lesions, as demonstrated in this patient's case. Correct histologic evaluation often requires input from a relatively few centers that treat a larger volume of childhood melanoma. Analysis of gene expression profiles aids in accurate diagnosis of PEM, proliferative nodule or melanoma. It is important to differentiate PEM, a low-grade, indolent melanoma, from malignant melanoma as the treatment differs significantly. Review of pathology by expert dermatopathologists from multiple institutions is vital for diagnostic accuracy, and patients with malignant transformation of GCN are best served by multidisciplinary teams.
Mandibular Fractures Epidemiology and Treatment Plans in the Center of Italy: A Retrospective Study
Authors: Gualtieri Matteo , Pisapia Francesco , Fadda Maria Teresa , Priore Paolo , Valentini Valentino 
Published: November 2020

Abstract
The epidemiology of maxillofacial fractures is variable in different geographic regions. Economic and social conditions, laws and types of behavior can be considered the most important factors influencing these differences.
Mandibular fractures were first cited in 1650 BC in an Egyptian papyrus. Today, these fractures are one of the most prevalent facial skeletal injuries.
A 4-year retrospective study was performed and the trauma – related data were collected from medical and radiological archives. The analysis comprised patients admitted for mandibular fracture at Sapienza University of Rome – Policlinico Umberto I between January 1, 2016 and December 31, 2019. The data include age, sex, etiology, anatomical sites of the fractures, eventual maxillofacial associated fractures and treatment.
We collected 172 patients, 138 males (80.2%) and 34 females (19.8%) with 270 mandibular fractures. The average age was 35.4 years. The youngest and oldest patients were aged 6 and 90 years, respectively. The age group 20 to 29 years was the most represented with 52 patients (30.2% of the total sample). Assaults were the most common etiology (n = 53, 30.8%), followed by falls (n = 45, 26.2%). The condyle was the most involved region (n = 86, 32%), followed by parasymphysis region (n = 72, 26.6%) and angle (n = 62, 23%).
154 patients (89.5%) reported only mandibular fractures. Eighteen patients (10.5%) had other associated maxillofacial fractures; the most frequently encountered maxillofacial fractures associated with mandibular fractures were the zygomatic complex fractures (n = 9, 5.2%). Open reduction and internal fixation was the most preferred surgical treatment (n = 115, 66.9%).
This study showed that mandibular fractures predominate in 20 to 29 years group and in the male sex. Assaults are the most frequent cause. The prevalent fracturing site is condylar process. Orbital – maxillary – zygomatic complex fractures were the most common associated maxillofacial fractures and open reduction and internal fixation was the preferred surgical strategy.
The results of this analysis agree to other studies and provide important clinical information that will help in study of these injuries.
Cerebrospinal fluid circulating tumour DNA as a liquid biopsy for central nervous system malignancies
Authors: Escudero Laura , Martínez-Ricarte Francisco , Seoane Joan 
Published: November 2020

Purpose of reviewThe molecular characterization of central nervous system (CNS) malignancies is crucial for obtaining the correct diagnosis and prognosis, and to guide the optimal therapeutic approach. However, obtaining surgical specimens can be challenging because of the anatomical location of the tumour and may limit the correct characterization of these malignancies. Recently, it has been shown that the cerebrospinal fluid (CSF) circulating tumour DNA (ctDNA) can be used as a liquid biopsy to characterize and monitor CNS malignancies and here we review its implications and advances.Recent findingsIn the last 5 years, several groups including ours have shown that ctDNA is highly present in the CSF, in larger amounts than in plasma, and that ctDNA can be sequenced to provide information about the diagnosis and prognosis of brain malignancies. Furthermore, the analysis of CSF ctDNA has allowed the selection of optimal therapeutic approaches monitoring response to treatment and tracking tumour evolution, providing crucial information about the molecular changes during tumour progression.SummaryHere, we review the recent discoveries and data relative to CSF ctDNA and discuss how CSF ctDNA can be used as a liquid biopsy to facilitate and complement the clinical management of patients with CNS malignancies.
Associations between polyfluoroalkyl substance and organophosphate flame retardant exposures and telomere length in a cohort of women firefighters and office workers in San Francisco
Authors: Clarity Cassidy , Trowbridge Jessica , Gerona Roy , Ona Katherine , McMaster Michael , Bessonneau Vincent , Rudel Ruthann , Buren Heather , Morello-Frosch Rachel 
Published: November 2020

AbstractBackgroundEnvironmental chemical exposures can affect telomere length, which in turn has been associated with adverse health outcomes including cancer. Firefighters are occupationally exposed to many hazardous chemicals and have higher rates of certain cancers. As a potential marker of effect, we assessed associations between chemical exposures and telomere length in women firefighters and office workers from San Francisco, CA.MethodsWe measured serum levels of polyfluoroalkyl substances (PFAS), urinary metabolites of flame retardants, including organophosphate flame retardants (OPFRs), and telomere length in peripheral blood leukocytes in women firefighters and office workers who participated in the 2014-15 Women Workers Biomonitoring Collaborative. Multiple linear regression models were used to assess associations between chemical exposures and telomere length.ResultsRegression results revealed significant positive associations between perfluorooctanoic acid (PFOA) and telomere length and perfluorooctanesulfonic acid (PFOS) and telomere length among the whole cohort. Models stratified by occupation showed stronger and more significant associations among firefighters as compared to office workers. Among firefighters in models adjusted for age, we found positive associations between telomere length and log-transformed PFOA (β(95%CI) = 0.57(0.12, 1.02)), PFOS (0.44 (0.05, 0.83)), and perfluorodecanoic acid (PFDA) (0.43 (0.02, 0.84)). Modeling PFAS as categories of exposure showed significant associations between perfluorononanoic acid (PFNA) and telomere length among firefighters. Significant associations between OPFR metabolites and telomere length were seen for bis(1,3-dichloro-2-propyl) phosphate (BDCPP) and telomere length among office workers (0.21(0.03, 0.40)) and bis(2-chloroethyl) phosphate (BCEP) and telomere length among firefighters (−0.14(−0.28, −0.01)). For OPFRs, the difference in the direction of effect by occupational group may be due to the disparate detection frequencies and levels of exposure between the two groups and/or potential unmeasured confounding.ConclusionOur findings suggest positive associations between PFAS and telomere length in women workers, with larger effects seen among firefighters as compared to office workers. The OPFR metabolites BDCPP and BCEP are also associated with telomere length in firefighters and office workers. Associations between chemical exposures and telomere length reported here and by others suggest mechanisms by which these chemicals may affect carcinogenesis and other adverse health outcomes.
Alzheimer’s and Parkinson’s diseases predict different COVID-19 outcomes, a UK Biobank study
Authors: Yu Yizhou , Travaglio Marco , Popovic Rebeka , Leal Nuno Santos , Martins L. Miguel 
Published: November 2020

ABSTRACTIn December 2019, a coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began infecting humans causing a novel disease, coronavirus disease 19 (COVID-19). This was first described in the Wuhan province of the People’s Republic of China. SARS-CoV-2 spread throughout the world causing a global pandemic. To date, thousands of cases of COVID-19 were reported in the United Kingdom, and over 45,000 patients have died. Some progress has been achieved in managing this disease, but the biological determinants of health, besides age, that affect COVID-19 infectivity and mortality are under scrutiny. Recent studies show that several medical conditions, including diabetes and hypertension, increase the risk of COVID-19 infection and death. The increased vulnerability of the elderly and those with comorbidities, together with the prevalence of neurodegenerative diseases with advanced age, led us to investigate the links between neurodegeneration and COVID-19. We analysed the primary health records of 13,338 UK individuals tested for COVID-19 between March and July 2020. We show that a pre-existing diagnosis of Alzheimer’s disease predicts the highest risk of COVID-19 infection and mortality among the elderly. In contrast, Parkinson’s disease patients were found to be at increased risk of infection but not mortality from COVID-19. We conclude that there are disease-specific differences in COVID-19 susceptibility among patients affected by neurodegenerative disorders.
COVID-19 Wastewater Epidemiology: A Model to Estimate Infected Populations
Authors: McMahan Christopher Steven , Self Stella , Rennert Lior , Kalbaugh Corey , Kriebel David , Graves Duane , Deaver Jessica A. , Popat Sudeep , Karanfil Tanju , Freedman David L. 
Published: November 2020

ABSTRACTBACKGROUNDWastewater-based epidemiology (WBE) provides an opportunity for near real-time, cost-effective monitoring of community level transmission of SARS-CoV-2, the virus that causes COVID-19. Detection of SARS-CoV-2 RNA in wastewater can identify the presence of COVID-19 in the community, but methods are lacking for estimating the numbers of infected individuals based on wastewater RNA concentrations.METHODSComposite wastewater samples were collected from three sewersheds and tested for SARS-CoV-2 RNA. A Susceptible-Exposed-Infectious-Removed (SEIR) model based on mass rate of SARS-CoV-2 RNA in the wastewater was developed to predict the number of infected individuals. Predictions were compared to confirmed cases identified by the South Carolina Department of Health and Environmental Control for the same time period and geographic area.RESULTSModel predictions for the relationship between mass rate of virus release to the sewersheds and numbers of infected individuals were validated based on estimated prevalence from individual testing. A simplified equation to estimate the number of infected individuals fell within the 95% confidence limits of the model. The unreported rate for COVID-19 estimated by the model was approximately 12 times that of confirmed cases. This aligned well with an independent estimate for the state of South Carolina.CONCLUSIONSThe SEIR model provides a robust method to estimate the total number of infected individuals in a sewershed based on the mass rate of RNA copies released per day. This overcomes some of the limitations associated with individual testing campaigns and thereby provides an additional tool that can be used to better inform policy decisions.
Xingnaojing injection can regulate dysbacteriosis and increase the concentration of short chain fatty acids in the feces after stroke in mice
Authors: Lin Jingfeng , Liu Ganlu , Han Zhenyun , Gao Qiang , Wang Zhenyi , Chang Ze , Gao Ying , Ma Dayong 
Published: November 2020

AbstractBackgroundXingnaojing injection (XNJ) is extracted from the Chinese ancient prescription “An-Gong-Niu-Huang Pill”, is widely used for stroke in China. We mainly observe the effect of XNJ (Xingnaojing) injection on the gut microbiota in stroke model mice.MethodsForty-two 7-to 8-week-old male C57 mice weighing 22-24 g were chosen for the experiment. There were 6 mice in each group; the 7 groups were the normal group (NG), the MCAO group (CG), the MCAO+XNJ group (EG), the sham surgery group (SG), the sham germ-free normal group (SGFNG), the sham germ-free+MCAO group (SGFCG), and the sham germ-free+MCAO+XNJ group (SGFEG). Two days before modeling, we abdominally administered Xingnaojing (6 mg/kg) the SGFEG and EG groups. The processing time of sustained XNJ was 5 days. Three days after modeling, 1 ~ 2 mouse feces were collected, and after a MiSeq PE library was constructed, an Illumina MiSeq PE 300 platform was used for high-throughput sequencing. After cleaning the sequencing data, the microbiome and microbiomeseq packages were used for analysis using R software (version 3.6.2).ResultsAlpha diversity analysis revealed that the diversity was not different between the CG and EG. The Simpson index was different between the SGFCG and SGFEG. XNJ increased the levels ofSutterellaceaeand decreased the level ofDeferribacteresandMorganella. LEfSe analysis showed that SGFCG mice were also enriched withMorganella. XNJ increased the concentrations of the SCFAs PA (propionate), VA (valerate), IBA (isobutyrate), and IVA (isovalerate) in the feces of the SGFEG group. BA (butyrate) had greater positive correlation with gut bacteria than other acids in the SGFCG, and XNJ changed this trend. KEGG analysis showed that peptidoglycan biosynthesis was most different between the CG and EG.ConclusionIschemic stroke (IS) causes dysbiosis of some specific bacteria in the gut microbiota in MCAO mice. Xingnaojing ameliorated this condition by increasing the levels ofSutterellaceaeand decreasing the level ofDeferribacteresandMorganella. These results are in accordance with other research on Chinese medicines for IS that affect the gut microbiota. Enrichment analysis of SCFAs revealed that XNJ improved the levels of SCFAs through an energy metabolism-related pathway.
Single-cell dissection of schizophrenia reveals neurodevelopmental-synaptic axis and transcriptional resilience
Authors: Ruzicka W. Brad , Mohammadi Shahin , Davila-Velderrain Jose , Subburaju Sivan , Tso Daniel Reed , Hourihan Makayla , Kellis Manolis 
Published: November 2020

AbstractSchizophrenia is a devastating mental disorder with a high societal burden, complex pathophysiology, and diverse genetic and environmental risk factors. Its complexity, polygenicity, and small-effect-size and cell-type-specific contributors have hindered mechanistic elucidation and the search for new therapeutics. Here, we present the first single-cell dissection of schizophrenia, across 500,000+ cells from 48 postmortem human prefrontal cortex samples, including 24 schizophrenia cases and 24 controls. We annotate 20 cell types/states, providing a high-resolution atlas of schizophrenia-altered genes and pathways in each. We find neurons are the most affected cell type, with deep-layer cortico-cortical projection neurons and parvalbumin-expressing inhibitory neurons showing significant transcriptional changes converging on genetically-implicated regions. We discover a novel excitatory-neuron cell-state indicative of transcriptional resilience and enriched in schizophrenia subjects with less-perturbed transcriptional signatures. We identify key trans-acting factors as candidate drivers of observed transcriptional perturbations, including MEF2C, TCF4, SOX5, and SATB2, and map their binding patterns in postmortem human neurons. These factors regulate distinct gene sets underlying fetal neurodevelopment and adult synaptic function, bridging two leading models of schizophrenia pathogenesis. Our results provide the most detailed map to date for mechanistic understanding and therapeutic development in neuropsychiatric disorders.