bluuebunny/crossref_metadata_2025_split huggingface dataset:
Withdrawn as duplicate: Comparison of RT-PCR Cycle Threshold Values from Respiratory Specimens in Symptomatic and Asymptomatic Children with SARS-CoV-2 Infection
Authors: Strutner John , Ramchandar Nanda , Dubey Shruti , Gamboa Mary , Vanderpool Michelle K , Mueller Teresa , Wang Wei , Cannavino Christopher , Tovar Padua Leidy , Malicki Denise , Pong Alice 
Published: May 2021

Abstract
This article was erroneously published under a new DOI, and is a duplicate of [Comparison of Reverse-Transcription Polymerase Chain Reaction Cycle Threshold Values From Respiratory Specimens in Symptomatic and Asymptomatic Children With Severe Acute Respiratory Syndrome Coronavirus 2 Infection; Strutner J, Ramchandar N, Dubey S et al.], originally published at https://doi.org/10.1093/cid/ciab120. The version of record for this article is available in full at the DOI link above and in Volume 73, Issue 10 of Clinical Infectious Diseases: https://academic.oup.com/cid/issue/73/10. The Publisher apologizes for any inconvenience.
Challenges of Assessing Community Mortality Due to Respiratory Viruses in Children Aged Less Than 5 Years
Authors: Caballero Mauricio T , Satav Ashish , Gill Christopher J , Omer Saad B , Pieciak Rachel C , Kazi Abdul Momin , Simões Eric Af , Polack Fernando P 
Published: May 2021

Abstract

Background
Estimating the real impact of respiratory syncytial virus (RSV) disease is key for the development of vaccines and treatments. Ascertaining the burden of community mortality due to RSV is challenging due to the lack of primary data. Therefore, conducting observational studies to determine the factors associated with community mortality due to the virus in developing countries is important.

Objective
Our aim in this study was to describe the obstacles, gaps, and challenges that investigators face in low-income, vulnerable regions in 4 developing countries on 3 continents.

Results
The main obstacles and challenges of ascertaining community mortality due to RSV were defining strategies to consent families for testing before burial, sampling individuals at the household level, supporting bereaved parents with different cultural and religious backgrounds, establishing tailored strategies for studies in challenging settings, and integrating RSV mortality data from nasopharyngeal samples.

Conclusion
Detailed logistical planning based on population sociodemographic information, grief counseling, staff training, and a multidisciplinary approach with adequate laboratory infrastructure is critical to successful observational community-based RSV studies.
Waste-derived volatile fatty acids as carbon source for added-value fermentation approaches
Authors: Chalima Angelina , de Castro Laura Fernandez , Burgstaller Lukas , Sampaio Paula , Carolas Ana Lúcia , Gildemyn Sylvia , Velghe Filip , Ferreira Bruno Sommer , Pais Celia , Neureiter Markus , Dietrich Thomas , Topakas Evangelos 
Published: May 2021

ABSTRACT
The establishment of a sustainable circular bioeconomy requires the effective material recycling from biomass and biowaste beyond composting/fertilizer or anaerobic digestion/bioenergy. Recently, volatile fatty acids attracted much attention due to their potential application as carbon source for the microbial production of high added-value products. Their low-cost production from different types of wastes through dark fermentation is a key aspect, which will potentially lead to the sustainable production of fuels, materials or chemicals, while diminishing the waste volume. This article reviews the utilization of a volatile fatty acid platform for the microbial production of polyhydroxyalkanoates, single cell oil and omega-3 fatty acids, giving emphasis on the fermentation challenges for the efficient implementation of the bioprocess and how they were addressed. These challenges were addressed through a research project funded by the European Commission under the Horizon 2020 programme entitled ‘VOLATILE—Biowaste derived volatile fatty acid platform for biopolymers, bioactive compounds and chemical building blocks’.
Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders
Authors: Reis Linda M , Sorokina Elena A , Dudakova Lubica , Moravikova Jana , Skalicka Pavlina , Malinka Frantisek , Seese Sarah E , Thompson Samuel , Bardakjian Tanya , Capasso Jenina , Allen William , Glaser Tom , Levin Alex V , Schneider Adele , Khan Ayesha , Liskova Petra , Semina Elena V 
Published: May 2021

AbstractThe forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We identified FOXE3 variants in individuals with congenital eye malformations and carried out in vitro functional analysis on selected alleles. Sixteen new recessive and dominant families, including six novel variants, were identified. Analysis of new and previously reported genetic and clinical data demonstrated a broad phenotypic range with an overlap between recessive and dominant disease. Most families with recessive alleles, composed of truncating and forkhead-domain missense variants, had severe corneal opacity (90%; sclerocornea in 47%), aphakia (83%) and microphthalmia (80%), but some had milder features including isolated cataract. The phenotype was most variable for recessive missense variants, suggesting that the functional consequences may be highly dependent on the type of amino acid substitution and its position. When assessed, aniridia or iris hypoplasia were noted in 89% and optic nerve anomalies in 60% of recessive cases, indicating that these defects are also common and may be underrecognized. In dominant pedigrees, caused by extension variants, normal eye size (96%), cataracts (99%) and variable anterior segment anomalies were seen in most, but some individuals had microphthalmia, aphakia or sclerocornea, more typical of recessive disease. Functional studies identified variable effects on the protein stability, DNA binding, nuclear localization and transcriptional activity for recessive FOXE3 variants, whereas dominant alleles showed severe impairment in all areas and dominant-negative characteristics.
Quinacrine Treatment of Nitroimidazole-Refractory Giardiasis
Authors: Ydsten Karin A , Hellgren Urban , Asgeirsson Hilmir 
Published: May 2021

Abstract

Background
Limited evidence exists on efficacy and tolerability of quinacrine for nitroimidazole-refractory giardiasis.

Methods
Nitroimidazole-refractory giardiasis cases, defined as microbiologically (microscopy and/or PCR) confirmed treatment failure after 2 courses, during 2008–2020, were retrospectively identified.

Results
Of 87 patients, 54 (62%) had visited India. Quinacrine was used in 54 (62%); 51 received monotherapy and 3 combined with metronidazole. Only 3 had positive stool samples with persisting symptoms after quinacrine treatment (94% parasitological efficacy) and all were cured after a second treatment. One (1.9%) had mild adverse effects recorded.

Conclusions
Quinacrine is an effective treatment for nitroimidazole-refractory giardiasis with good tolerability.
Type I, II, and III Interferon Signatures Correspond to Coronavirus Disease 2019 Severity
Authors: Kim Myung-Ho , Salloum Shadi , Wang Jeffrey Y , Wong Lai Ping , Regan James , Lefteri Kristina , Manickas-Hill Zachary , Gao Ce , Li Jonathan Z , Sadreyev Ruslan I , Yu Xu G , Chung Raymond T ,   MGH COVID-19 Collection & Processing Team
Published: May 2021

Abstract
We analyzed plasma levels of interferons (IFNs) and cytokines, and expression of IFN-stimulated genes in peripheral blood mononuclear cells in patients with coronavirus disease 2019 of varying disease severity. Patients hospitalized with mild disease exhibited transient type I IFN responses, while intensive care unit patients had prolonged type I IFN responses. Type II IFN responses were compromised in intensive care unit patients. Type III IFN responses were induced in the early phase of infection, even in convalescent patients. These results highlight the importance of early type I and III IFN responses in controlling coronavirus disease 2019 progression.
Postpartum Disseminated Herpes Simplex Virus Type 1 Infection With Hemophagocytic Lymphohistiocytosis and Fulminant Neonatal Herpes Infection
Authors: Freytag Mette Ratzer , Jørgensen Sofie Eg , Thomsen Michelle Mølgaard , Al-Mousawi Ali , Hait Alon Schneider , Olagnier David , Bay Jakob T , Helleberg Marie , Mogensen Trine H 
Published: May 2021

Abstract
The present study describes a 19-year-old woman with systemic herpes simplex virus (HSV)-1 infection and hemophagocytic lymphohistiocytosis (HLH) postpartum, and a fatal course of neonatal herpesvirus infection. Functional investigation of cells from the mother demonstrated significantly impaired induction of antiviral interferons and cytokines in the context of normal activation of the transcription factors NF-κB and IRF3. Whole-exome sequencing did not reveal any functionally validated genetic variants. We suggest that the functionally impaired antiviral responses, potentially caused by a variant in CASP8 or other variants in noncoding regions of the genome, contributed to the unusually severe disease course observed in two generations.
The Digestive Diverticula in the Carnivorous Nudibranch, Melibe leonina, Do Not Contain Photosynthetic Symbionts
Authors: Watson W H , Bourque K M F , Sullivan J R , Miller M , Buell A , Kallins M G , Curtis N E , Pierce S K , Blackman E , Urato S , Newcomb J M 
Published: May 2021

Synopsis
A number of nudibranchs, including Melibe engeli and Melibe pilosa, harbor symbiotic photosynthetic zooxanthellae. Melibe leonina spends most of its adult life on seagrass or kelp, capturing planktonic organisms in the water column with a large, tentacle-lined oral hood that brings food to its mouth. M. leonina also has an extensive network of digestive diverticula, located just beneath its translucent integument, that are typically filled with pigmented material likely derived from ingested food. Therefore, the focus of this project was to test the hypothesis that M. leonina accumulates symbiotic photosynthetic dinoflagellates in these diverticula. First, we conducted experiments to determine if M. leonina exhibits a preference for light, which would allow chloroplasts that it might be harboring to carry out photosynthesis. We found that most M. leonina preferred shaded areas and spent less time in direct sunlight. Second, we examined the small green circular structures in cells lining the digestive diverticula. Like chlorophyll, they exhibited autofluorescence when illuminated at 480 nm, and they were also about the same size as chloroplasts and symbiotic zooxanthellae. However, subsequent electron microscopy found no evidence of chloroplasts in the digestive diverticula of M. leonina; the structures exhibiting autofluorescence at 480 nm were most likely heterolysosomes, consistent with normal molluscan digestion. Third, we did not find evidence of altered oxygen consumption or production in M. leonina housed in different light conditions, suggesting the lack of any significant photosynthetic activity in sunlight. Fourth, we examined the contents of the diverticula, using HPLC, thin layer chromatography, and spectroscopy. The results of these studies indicate that the diverticula did not contain any chlorophyll, but rather harbored other pigments, such as astaxanthin, which likely came from crustaceans in their diet. Together, all of these data suggest that M. leonina does sequester pigments from its diet, but not for the purpose of symbiosis with photosynthetic zooxanthellae. Considering the translucent skin of M. leonina, the pigmented diverticula may instead provide camouflage.
Ganciclovir therapeutic drug monitoring in transplant recipients
Authors: Märtson Anne-Grete , Edwina Angela E. , Burgerhof Johannes G. M. , Berger Stefan P. , de Joode Anoek , Damman Kevin , Verschuuren Erik A. M. , Blokzijl Hans , Bakker Martijn , Span Lambert F. , van der Werf Tjip S. , Touw Daan J. , Sturkenboom Marieke G. G. , Knoester Marjolein , Alffenaar Jan W. C. 
Published: May 2021

AbstractBackgroundThe use of (val)ganciclovir is complicated by toxicity, slow response to treatment and acquired resistance.ObjectivesTo evaluate a routine therapeutic drug monitoring (TDM) programme for ganciclovir in a transplant patient population.MethodsAn observational study was performed in transplant recipients from June 2018 to February 2020. Dose adjustments were advised by the TDM pharmacist as part of clinical care. For prophylaxis, a trough concentration (Cmin) of 1–2 mg/L and an AUC24h of &gt;50 mg·h/L were aimed for. For treatment, a Cmin of 2–4 mg/L and an AUC24h of 80–120 mg·h/L were aimed for.ResultsNinety-five solid organ and stem cell transplant patients were enrolled. Overall, 450 serum concentrations were measured; with a median of 3 (IQR = 2–6) per patient. The median Cmin and AUC24h in the treatment and prophylaxis groups were 2.0 mg/L and 90 mg·h/L and 0.9 mg/L and 67 mg·h/L, respectively. Significant intra- and inter-patient patient variability was observed. The majority of patients with an estimated glomerular filtration rate of more than 120 mL/min/1.73 m2 and patients on continuous veno-venous haemofiltration showed underexposure. The highest Cmin and AUC24h values were associated with the increase in liver function markers and decline in WBC count as compared with baseline.ConclusionsThis study revealed that a standard weight and kidney function-based dosing regimen resulted in highly variable ganciclovir Cmin and under- and over-exposure were observed in patients on dialysis and in patients with increased renal function. Clearly there is a need to explore the impact of concentration-guided dose adjustments in a prospective study.
Chromosome-Level Reference Genome Assembly for the American Pika (Ochotona princeps)
Authors: Sjodin Bryson M F , Galbreath Kurt E , Lanier Hayley C , Russello Michael A 
Published: May 2021

AbstractThe American pika (Ochotona princeps) is an alpine lagomorph found throughout western North America. Primarily inhabiting talus slopes at higher elevations (&gt;2000 m), American pikas are well adapted to cold, montane environments. Warming climates on both historical and contemporary scales have contributed to population declines in American pikas, positioning them as a focal mammalian species for investigating the ecological effects of climate change. To support and expand ongoing research efforts, here, we present a highly contiguous and annotated reference genome assembly for the American pika (OchPri4.0). This assembly was produced using Dovetail de novo proximity ligation methods and annotated through the NCBI Eukaryotic Genome Annotation pipeline. The resulting assembly was chromosome- scale, with a total length of 2.23 Gb across 9350 scaffolds and a scaffold N50 of 75.8 Mb. The vast majority (&gt;97%) of the total assembly length was found within 36 large scaffolds; 33 of these scaffolds correlated to whole autosomes, while the X chromosome was covered by 3 large scaffolds. Additionally, we identified 17 enriched gene ontology terms among American pika-specific genes putatively related to adaptation to high-elevation environments. This high-quality genome assembly will serve as a springboard for exploring the evolutionary underpinnings of behavioral, ecological, and taxonomic diversification in pikas as well as broader-scale eco-evolutionary questions pertaining to cold-adapted species in general.
Submucosal gastric heterotopia presenting as an upper esophageal nodule
Authors: Dawley Jillian C , Gavini Hemanth K , Sun Belinda L 
Published: May 2021

Abstract
Esophageal gastric heterotopia (GH), the presence of differentiated gastric tissue in the esophagus, is estimated in up to 14% of populations worldwide and has always been reported on the surface of the esophagus, where it is also known as inlet patch. However, submucosal GH, in any tissue, is a rare finding. We report the case of a 50 year-old male presenting with chronic cough, heartburn and raspy vocalizations. Endoscopic examination showed a single 7 mm esophageal nodule, 20 cm from the incisors, interpreted as a submucosal mass. Pathologic examination of the endoscopically excised nodule showed well-differentiated gastric mucosa within the submucosa underneath the overlying squamous mucosa, consistent with submucosal GH. This case raises the awareness of an atypical presentation and location of GH seen as a submucosal mass on endoscopy.
Integrated Environmental and Genomic Analysis Reveals the Drivers of Local Adaptation in African Indigenous Chickens
Authors: Gheyas Almas A , Vallejo-Trujillo Adriana , Kebede Adebabay , Lozano-Jaramillo Maria , Dessie Tadelle , Smith Jacqueline , Hanotte Olivier 
Published: May 2021

Abstract
Breeding for climate resilience is currently an important goal for sustainable livestock production. Local adaptations exhibited by indigenous livestock allow investigating the genetic control of this resilience. Ecological niche modeling (ENM) provides a powerful avenue to identify the main environmental drivers of selection. Here, we applied an integrative approach combining ENM with genome-wide selection signature analyses (XPEHH and Fst) and genotype−environment association (redundancy analysis), with the aim of identifying the genomic signatures of adaptation in African village chickens. By dissecting 34 agro-climatic variables from the ecosystems of 25 Ethiopian village chicken populations, ENM identified six key drivers of environmental challenges: One temperature variable—strongly correlated with elevation, three precipitation variables as proxies for water availability, and two soil/land cover variables as proxies of food availability for foraging chickens. Genome analyses based on whole-genome sequencing (n = 245), identified a few strongly supported genomic regions under selection for environmental challenges related to altitude, temperature, water scarcity, and food availability. These regions harbor several gene clusters including regulatory genes, suggesting a predominantly oligogenic control of environmental adaptation. Few candidate genes detected in relation to heat-stress, indicates likely epigenetic regulation of thermo-tolerance for a domestic species originating from a tropical Asian wild ancestor. These results provide possible explanations for the rapid past adaptation of chickens to diverse African agro-ecologies, while also representing new landmarks for sustainable breeding improvement for climate resilience. We show that the pre-identification of key environmental drivers, followed by genomic investigation, provides a powerful new approach for elucidating adaptation in domestic animals.
Robotics in Spine Surgery and Spine Surgery Training
Authors: Liounakos Jason I , Chenin Louis , Theodore Nicholas , Wang Michael Y 
Published: May 2021

Abstract
The increasing interest and advancements in robotic spine surgery parallels a growing emphasis on maximizing patient safety and outcomes. In addition, an increasing interest in minimally invasive spine surgery has further fueled robotic development, as robotic guidance systems are aptly suited for these procedures. This review aims to address 3 of the most critical aspects of robotics in spine surgery today: salient details regarding the current and future development of robotic systems and functionalities, the reported accuracy of implant placement over the years, and how the implementation of robotic systems will impact the training of future generations of spine surgeons. As current systems establish themselves as highly accurate tools for implant placement, the development of novel features, including even robotic-assisted decompression, will likely occur. As spine surgery robots evolve and become increasingly adopted, it is likely that resident and fellow education will follow suit, leading to unique opportunities for both established surgeons and trainees.
Posteromedial Hypothalamic Deep Brain Stimulation for Refractory Aggressiveness in a Patient With Weaver Syndrome: Clinical, Technical Report and Operative Video
Authors: Blasco García de Andoain Guillermo , Navas García Marta , González Aduna Óscar , Bocos Portillo Alvaro , Ezquiaga Terrazas Elena , Ayuso-Mateos José Luis , Pastor Jesús , Vega-Zelaya Lorena , Torres Cristina V 
Published: May 2021

Abstract

BACKGROUND AND IMPORTANCE
Deep brain stimulation of the posteromedial hypothalamus (PMH DBS) appears to be an effective treatment for drug-resistant aggressiveness. Weaver syndrome (WS) is a rare genetic disorder in which patients develop some degree of intellectual disability and rarely severe behavioral alterations that may benefit from this procedure.

CLINICAL PRESENTATION
We present the case of a 26-yr-old man diagnosed with WS presenting with uncontrollable self and heteroaggressiveness and disruptive behavior refractory to pharmacological treatment and under severe physical and mechanical restraining measures. The patient was successfully treated with bilateral PMH DBS resulting in affective improvement, greater tolerance for signs of affection, regularization in his sleep pattern and appetite disturbances at 12-mo follow-up. A detailed description and video of the procedure are presented, and a review of the clinical characteristics of WS and the utility and benefits of PMH DBS for refractory aggressiveness are reviewed.

CONCLUSION
To our knowledge, this is the first case of refractory aggressiveness described in WS as well as the first patient with WS successfully treated with PMH DBS.
A Novel Negative Pressure, Face-Mounted Antechamber to Minimize Aerosolization of Particles During Endoscopic Skull Base Surgery
Authors: Kim Matthew , Lee Mark , Schwarz Justin , Kacker Ashutosh , Schwartz Theodore H 
Published: May 2021

Abstract

BACKGROUND
The COVID-19 pandemic has revealed deficiencies in the adequacy of personal protective equipment (PPE) for healthcare workers. Endoscopic endonasal skull base surgery is thought to be among the highest-risk aerosol-generating procedures for surgeons and operating room personnel.

OBJECTIVE
To validate the efficacy and clinical feasibility of a novel surgical device.

METHODS
A low-cost, modifiable, and easily producible negative pressure, face-mounted antechamber was developed utilizing 3D printing and silicone molding. Efficacy was evaluated using an optical particle sizer to quantify aerosols generated during both cadaver and intraoperative human use with high-speed drilling.

RESULTS
Particle counts in the cadaver showed that drilling led to a 2.49-fold increase in particles 0.3 to 5 μm (P = .001) and that the chamber was effective at reducing particles to levels not significantly different than baseline. In humans, drilling led to a 37-fold increase in particles 0.3 to 5 μm (P < .001), and the chamber was effective at reducing particles to a level not significantly different than baseline. Use of the antechamber in 6 complex cases did not interfere with the ability to perform surgery. Patients did not report any facial discomfort after surgery related to antechamber use.

CONCLUSION
The use of a negative pressure facial antechamber can effectively reduce aerosolization from endoscopic drilling without disturbing the flow of the operation. The antechamber, in conjunction with appropriate PPE, will be useful during the COVID-19 pandemic, as well as during flu season and any future viral outbreaks.