bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clearing the Congestion
Authors: Berman Jesse , Lee Lynden , Monga Rahul , Ye Kenny , Sprayregen Seymour , Haramati Linda B. 
Published: November 2021

Purpose:
Ruling out congestive heart failure (CHF) is clinically important in Emergency Department (ED) patients. Normal serum brain natriuretic peptide (BNP) represents an important reference standard for excluding CHF. Results of chest radiographs (CXR) are also considered and, when discordant with BNP levels, may result in a clinical dilemma. The present study was designed to elucidate factors associated with CHF on CXR in an ED cohort with normal BNP.

Materials and Methods:
All adults at our urban health system’s EDs who underwent CXR within 24 hours and had a normal BNP (<300 pg/mL) within 24 hours of CXR were retrospectively identified. Of these, 0.9% (8/862) had equivocal CXRs and was excluded. Demographics, comorbidities, CXR report results for CHF, and portable technique were noted. Logistic regression was used to assess factors that are associated with the presence of CHF on CXR.

Results:
The study cohort comprised 854 patients (433 men, mean age 60.99±15.30) with normal BNP; 91.5% (781/854) had no CHF on CXR and 8.5% (73/854) had CHF. Patients with CHF on CXR had a higher body mass index (32.9 vs. 29.8 kg/m2, P=0.0205) were more likely to have a history of CHF or diabetes with complications (OR: 2.72 and 2.53, respectively), had higher serum BNP levels (median 164 vs. 98 pg/mL, P=4.91×10−5), and underwent portable examination more frequently (86.3% vs. 57.5%, OR: 4.65).

Conclusions:
Normal serum BNP was concordant with CXR results, adding diagnostic confidence in ruling out CHF in a large majority of ED patients. A higher body mass index, history of CHF, and diabetes with complications and portable CXR technique were associated with CHF on CXR among the minority with normal BNP.
Treatment of Dentofacial Deformity Associated with Temporomandibular Joint Ankylosis Through Vertical and Sagittal Osteotomies of the Mandibular Ramus
Authors: Filho Antônio Mont’Alverne Lopes , Junior George Matos Ferreira Gomes , Santos Eliardo Silveira , JUnior Moises Joao Bortoluzzi , Neto Jose Valdir Pessoa , Santos Juliana Mara Oliveira 
Published: November 2021

Abstract
Ankylosis of the temporomandibular joint is a disorder resulting from fibrous, osseous, or fibro-osseous adhesion that directly affects the quality of life of the individual. The authors present a case of unilateral temporomandibular joint ankylosis treated by condilectomy and ipsilateral sliding vertical ramus osteotomy associated with contralateral sagittal osteotomy aiming to restore function and to correct dentofacial deformity class II. A 31-year-old female patient presented with a history of facial trauma and major complaint of oral opening limitation. Physical examination revealed hypoplasia of the lower third of the face, facial pattern type II, anterior open bite, and maximum mouth opening of 22.5 mm. Computed tomography showed an ankylotic mass in the right mandibular condyle with deformity of the condylar structure and fusion to the right zygomatic arch and a contralateral condylar fracture sequel. It was proposed to perform a condilectomy of the right mandibular condyle for the removal of the bone mass concomitant to the sliding vertical ramus osteotomy of the mandibular ramus for condylar reconstruction by rhytidectomy approach and the sagittal osteotomy of the left mandibular aiming the reestablishment of occlusion and the correction of dentofacial deformity. The condylar fracture was not operated because the condyle was remodeled. The patient is in her fourth year postoperative presenting satisfactory esthetic-functional re-stabilization, without clinical signs of recurrence. In conclusion, the authors believe that combined sliding vertical ramus osteotomy and sagittal osteotomy can bring satisfactory results in complex cases.
Using the Helical Free Flap Based on the Retrograde Flow From Frontal Branch of Superficial Temporal Vessels in Lower Third Nasal Reconstruction
Authors: Pham Thi Viet Dung , Tran Thiet Son , Thai Duy Quang , Ta Thi Hong Thuy 
Published: November 2021

Abstract
Although the helical free flap is 1 of the most effective option for the lower third nasal reconstruction, the main limitation is still related to having a short pedicle length. In this report, the authors presented our experience in using the long pedicle helical free flap based on the frontal branch of the superficial temporal vessels in nasal reconstruction. Five patients, 3 alar full-thickness defects, 1 columellar defect, and 1 multiple subunit defect, underwent reconstruction using this technique. The pedicle length ranged from 4 to 6 cm. All the flaps were survived completely. However, vein congestion was seen post-operation in 1 case. This flap was saved by using medical leech. No vascular graft was needed. The helical free flap based on the retrograde flow of the frontal branch of the superficial temporal artery offers an option to overcome the limitation of short pedicle length. This composite flap is valuable for nasal alar and columellar reconstruction or even the larger defects, which involve multiple subunits.
Assessment of Protection Offered By the NRF2 Pathway Against Hyperoxia-Induced Acute Lung Injury in NRF2 Knockout Rats
Authors: Audi Said H. , Jacobs Elizabeth R. , Taheri Pardis , Ganesh Swetha , Clough Anne V. 
Published: November 2021

ABSTRACT
Nuclear factor erythroid 2-related factor (Nrf2) is a redox-sensitive transcription factor that responds to oxidative stress by activating expressions of key antioxidant and cytoprotective enzymes via the Nrf2-antioxidant response element (ARE) signaling pathway. Our objective was to characterize hyperoxia-induced acute lung injury (HALI) in Nrf2 knock-out (KO) rats to elucidate the role of this pathway in HALI. Adult Nrf2 wildtype (WT), and KO rats were exposed to room air (normoxia) or >95% O2 (hyperoxia) for 48 h, after which selected injury and functional endpoints were measured in vivo and ex vivo. Results demonstrate that the Nrf2-ARE signaling pathway provides some protection against HALI, as reflected by greater hyperoxia-induced histological injury and higher pulmonary endothelial filtration coefficient in KO versus WT rats. We observed larger hyperoxia-induced increases in lung expression of glutathione (GSH) synthetase, 3-nitrotyrosine (index of oxidative stress), and interleukin-1β, and in vivo lung uptake of the GSH-sensitive SPECT biomarker 99mTc-HMPAO in WT compared to KO rats. Hyperoxia also induced increases in lung expression of myeloperoxidase in both WT and KO rats, but with no difference between WT and KO. Hyperoxia had no effect on expression of Bcl-2 (anti-apoptotic protein) or peroxiredoxin-1. These results suggest that the protection offered by the Nrf2-ARE pathway against HALI is in part via its regulation of the GSH redox pathway. To the best of our knowledge, this is the first study to assess the role of the Nrf2-ARE signaling pathway in protection against HALI using a rat Nrf2 knockout model.
Factors Associated With Postictal Agitation After Electroconvulsive Therapy
Authors: Allen Nicholas D. , Allison Clayton L. , Golebiowski Raphael , Janowski John Patrick B. , LeMahieu Allison M. , Geske Jennifer R. , Rasmussen Keith G. 
Published: November 2021

Objective
This study investigated the occurrence of postictal agitation (PA) in patients undergoing an acute series of electroconvulsive therapy (ECT) and further explored patient and treatment variables associated with PA.

Methods
Charts were retrospectively searched for patients undergoing an acute series of ECT. Postictal agitation was identified by the administration of a sedative after ECT. Demographic, diagnostic, medication, and ECT variables that could also be associated with PA were collected and accounted for in statistical analysis.

Results
In this population, 22 of 156 patients experienced PA. Associations that reached statistical significance included sex, weight, active substance use disorder, seizure duration (as observed by motor movements), and waking time. Only seizure duration and waking time maintained significance after multivariable analysis.

Conclusions
These data identify clinical factors that could help predict PA. Patients with greater weight, male sex, or an active substance use disorder ought to be carefully monitored for PA, and staff in the recovery suite should be especially vigilant about such patients with longer seizures and waking times.
Ultrabrief Right Unilateral Electroconvulsive Therapy for the Treatment of the Neuropsychiatric Symptoms of Dementia with Lewy Bodies
Authors: Hermida Adriana P. , Sterina Evelina , Schwab P. Parker , Browning Cody Michael , Chapman Hannah M. , Marques Pinheiro Ana P. , Mori Neil 
Published: November 2021

Objectives
Dementia with Lewy bodies (DLB) is a debilitating disorder associated with a number of distressing neuropsychiatric symptoms. There is currently limited guidance regarding the most effective strategies of managing these symptoms, and both pharmacologic and nonpharmacologic strategies are often used. Electroconvulsive therapy (ECT) has been reported as a potential nonpharmacologic method to alleviate some of these debilitating neuropsychiatric symptoms. However, there remains a paucity of evidence in current literature. This report aims to add to existing literature regarding ECT in DLB by highlighting successful treatment in seven cases.

Methods
Our study is a retrospective case series of 7 patients with DLB who received treatment with ultrabrief (UB) right unilateral (RUL) ECT for the treatment of agitation and depressive symptoms. Participants included patients with a diagnosis of DLB who were admitted to Emory University Hospital at Wesley Woods from 2011 to 2020 presenting with agitation and/or depressive symptoms after failing pharmacologic intervention. Patients underwent UB RUL ECT administered by a board-certified psychiatrist. After treatment, Pittsburg Agitation Scale and Clinical Global Impression—Improvement scales were recorded as measures of agitation and clinical improvement, respectively.

Results
All 7 patients responded to UB RUL ECT with marked improvement in their presenting symptoms of agitation and/or depression without significant adverse effects from treatment.

Conclusions
Ultrabrief RUL ECT seems to be a safe and effective treatment of the agitative and depressive features of DLB.
Flagellatimonas centrodinii gen. nov., sp. nov., a novel member of the family Nevskiaceae isolated from toxin-producing dinoflagellate Centrodinium punctatum
Authors: Jiang Yue , Jiang Lingmin , Peng Yuxin , Kim Ki-Hyun , Shin Hyeon Ho , Kim Young-Min , Lee Jiyoung , Li Zhun 
Published: November 2021

A Gram-stain-negative, aerobic, rod-shaped strain (R2A-3T) was isolated from the toxin-producing dinoflagellate Centrodinium punctatum and identified as a novel genus and new species based on a polyphasic taxonomic approach. The optimum conditions for growth of the strain were at 25 °C, pH 8.0 and in the presence of 3 % (w/v) NaCl. Phylogenetic analyses based on 16S rRNA genes and 92 core genes sets revealed that strain R2A-3T belongs to the family

Nevskiaceae

in the class

Gammaproteobacteria

and represented an independent taxon separated from other genera. The 16S rRNA gene of strain R2A-3T showed the highest sequence similarity to

Polycyclovorans algicola

TG408T (95.2%),

Fontimonas thermophila

HA-01T (94.1%) and

Sinimarinibacterium flocculans

NH6-24T (93.2%), and less than 92.8 % similarity to other genera in the family

Nevskiaceae

. The genome length of strain R2A-3T was 3608892 bp with 65.2 mol% G+C content. Summed feature 8 (comprising C18 : 1
ω7c and/or C18 : 1
ω6c) was the major fatty acid (>10 %). Diphosphatidylglycerol, phosphatidylglycerol and phosphatidylethanolamine were detected as the major polar lipids. The major respiratory quinone was ubiquinone-8. According to its phylogenetic, phenotypic, chemotaxonomic and genomic features, strain R2A-3T represents a new species in the new genus of the family

Nevskiaceae

. It is recommended to name it Flagellatimonas centrodinii gen. nov., sp. nov. The type strain is R2A-3T (=KCTC 82469T=GDMCC 1.2523T).
DEVELOPMENT AND TEST OF A CHATBOT TO IDENTIFY DEPRESSION
Authors: Hyun Choi Stefano Neto Jai , Lopes Moreira Rita Simone , de Azevedo Costa Ana Luiza Fontes , Saito Regatieri Caio Vinicius , dos Santos Vagner Rogério 
Published: November 2021

ABSTRACTPurposeto develop and test a prototype of Chatbot with the purpose of applying a questionnaire to assess depression in visually impaired individuals.MethodsThis project was carried out in the Federal University of São Paulo. The Chatbot was developed using the platform BLiP®. The social-demography questionnaire and the Center for Epidemiological Scale – Depression (CES-D) were selected to collect the essential data and to identify the presence of depression, respectively. After the development, validation tests were applied to verify the functionality and structure of the chatbot.ResultsThe Chatbot prototype presented an excellent flow of conversation in the tests conducted. The questionnaires were applied in a satisfactory manner during the tests. Software validation tests approved the prototype’s function.ConclusionsThe Chatbot prototype is an affordable and easy way to apply questionnaires that can be used to identify health conditions, such as the likelihood of being depressed.
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Authors: Blok Lot Snijders , Verseput Jolijn , Rots Dmitrijs , Venselaar Hanka , Innes A. Micheil , Stumpel Connie , Ounap Katrin , Reinson Karit , Seaby Eleanor G. , McKee Shane , Burton Barbara , Kim Katherine , van Hagen Johanna M. , Waisfisz Quinten , Joset Pascal , Steindl Katharina , Rauch Anita , Li Dong , Zackai Elaine , Sheppard Sarah , Keena Beth , Hakonarson Hakon , Roos Andreas , Kohlschmidt Nicolai , Cereda Anna , Iascone Maria , Rebessi Erika , Kernohan Kristin D. , Campeau Philippe M. , Millan Francisca , Taylor Jesse A. , Lochmüller Hanns , Higgs Martin R. , Goula Amalia , Bernhard Birgitta , Fisher Simon E. , Brunner Han G. , Kleefstra Tjitske 
Published: November 2021

AbstractWDR5 is a broadly studied, highly conserved protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. Here, we present data from ten unrelated individuals with six different rare de novo missense variants in WDR5; one identical variant was found in four individuals, and another variant in two individuals. All ten individuals had neurodevelopmental disorders including speech/language delays (N=10), intellectual disability (N=8), epilepsy (N=6) and autism spectrum disorder (N=4). Additional phenotypic features included abnormal growth parameters (N=6), heart anomalies (N=2) and hearing loss (N=2). All six missense variants occurred in regions of the WDR5 locus that are known to be extremely intolerant for variation. Three-dimensional structures indicate that all the residues affected by these variants are located at the surface of one side of the WDR5 protein. It is predicted that five out of the six amino-acid substitutions disrupt interactions of WDR5 with RbBP5 and/or KMT2A/C, as part of the COMPASS family complexes. Thus, we define a new neurodevelopmental disorder associated with missense variants in WDR5 and a broad range of associated features including intellectual disability, speech/language impairments, epilepsy and autism spectrum disorders. This finding highlights the important role of COMPASS family proteins in neurodevelopmental disorders.
Dysfunction of exocytosis causes catecholamine hypersecretion in patient with pheochromocytoma
Authors: Houy Sébastien , Streit Laura , Drissa Ines , Rame Marion , Decraene Charles , Moog Sophie , Brunaud Laurent , Lanoix Joël , Chelbi Rabie , Bihain Florence , Lacomme Stéphanie , Lomazzi Sandra , Vix Michel , Mutter Didier , Paramithiotis Eustache , Dubessy Christophe , Vitale Nicolas , Ory Stéphane , Gasman Stéphane 
Published: November 2021

AbstractPheochromocytoma (Pheo) is a neuroendocrine tumor that develops from chromaffin cells of the adrenal medulla, and is responsible of an excess of catecholamines secretion leading to severe clinical symptoms such as hypertension, elevated stroke risk and various cardiovascular complications. Surprisingly, hypersecretory activity of Pheo has never been explored at the cellular and molecular levels from individual tumor cells. In the present study, we have combined catecholamine secretion measurement by carbon fiber amperometry on human tumor cells directly cultured from freshly resected Pheo, with the analysis by mass spectrometry of the exocytotic proteins differentially expressed between the tumor and the matched adjacent non-tumor tissue. Catecholamine secretion recordings from individual Pheo cells obtained from most patients reveal a higher number of exocytic events per cell associated with faster kinetic parameters. Accordingly, we unravel significant tumor-associated modifications in the expression of key proteins involved in different steps of the calcium-regulated exocytic pathway. Altogether, our findings indicate that dysfunction of the calcium-regulated exocytosis at the level of individual Pheo cell is a cause of the tumor-associated hypersecretion of catecholamines.
Somatic activating BRAF variants cause isolated lymphatic malformations
Authors: Zenner Kaitlyn , Jensen Dana M. , Dmyterko Victoria , Shivaram Giridhar M. , Myers Candace T. , Paschal Cate R. , Rudzinski Erin R. , Pham Minh-Hang M. , Cheng V. Chi , Manning Scott C. , Bly Randall A. , Ganti Sheila , Perkins Jonathan A. , Bennett James T. 
Published: November 2021

AbstractSomatic activating variants in PIK3CA, the gene that encodes the p110α catalytic subunit of PI3K, have been previously detected in ∼80% of lymphatic malformations (LM).1; 2 We report the presence of somatic activating variants in BRAF in individuals with PIK3CA-negative LM. The BRAF substitution p.Val600Glu (c.1799T>A), one of the most common driver mutations in cancer, was detected in multiple individuals with LM. Histology revealed abnormal lymphatic channels with immunopositivity for BRAFV600E in endothelial cells that was otherwise indistinguishable from PIK3CA positive LM. The finding that BRAF variants contribute to low-flow LMs increases the complexity of prior models associating low flow vascular malformations (LM and venous malformations) with mutations in the PI3K-AKT-MTOR and high flow vascular malformations (arteriovenous malformations) with mutations in the RAS-MAPK pathway.3 Additionally, this work highlights the importance of genetic diagnosis prior to initiating medical therapy as more studies examine therapeutics for individuals with vascular malformations.
Longitudinal intronic RNA-Seq analysis of Parkinson’s Disease patients reveals disease-specific nascent transcription
Authors: Kõks Sulev , Pfaff Abigail L. , Bubb Vivien J. , Quinn John P. 
Published: November 2021

AbstractTranscriptomic studies usually focus on either gene or exon-based annotations, and only limited experiments have reported changes in reads mapping to introns. The analysis of intronic reads allows the detection of nascent transcription that is not influenced by steady - state RNA levels and provides information on actively transcribed genes. Here we describe substantial intronic transcriptional changes in Parkinson’s Disease (PD) patients compared to healthy controls (CO) at two different timepoints; at the time of diagnosis (BL) and three years later (V08). We used blood RNA-Seq data from the Parkinson’s Progression Markers Initiative (PPMI) cohort and identified significantly changed transcription of intronic reads only in PD patients during this follow up period. In CO subjects, only nine transcripts demonstrated differentially expressed introns between visits. However, in PD patients 4,873 transcripts had differentially expressed introns at visit V08 compared to BL, many of them in genes previously associated with neurodegenerative diseases, such as LRRK2, C9orf72, LGALS3, KANSL1AS1 and ALS2. In addition, at the time of diagnosis (BL visit) we identified 836 transcripts (e.g. SNCA, DNAJC19, PRRG4) and at visit V08 2,184 transcripts (e.g. PINK1, GBA, ALS2, PLEKHM1) with differential intronic expression specific to PD patients. In contrast, reads mapping to exonic regions demonstrated little variation indicating highly specific changes only in intronic transcription. Our study demonstrated that Parkinson’s disease is characterized by substantial changes in the nascent transcription and description of these changes could help to understand the molecular pathology underpinning this disease.Impact statementTranscriptomic studies in most cases describe the steady state changes of the cellular RNA combined with signals from newly synthesised RNA or nascent RNA. Nascent RNA reflects dynamic alterations in the cellular transcriptome and improves the resolution of RNA-Seq analysis. In the present study, we describe the changes in nascent RNA transcription in Parkinson’s disease by using intronic RNA-Seq analysis. We compared transcriptome changes at the time of diagnosis and 3 years after the initial diagnosis. As a result, we were able to describe disease-specific time-dependent alterations in the nascent transcription in the blood of Parkinson’s patients illustrating another layer of the blood-based biomarkers that could be diagnostic of both risk and progression of Parkinson’s disease.
Reappraising Treatment Effect Heterogeneity in Schizophrenia: A Meta-analysis
Authors: McCutcheon Robert A , Pillinger Toby , Efthimiou Orestis , Maslej Marta , Mulsant Benoit H , Young Allan H , Cipriani Andrea , Howes Oliver D 
Published: November 2021

ObjectiveDetermining whether individual patients differ in response to treatment (‘treatment effect heterogeneity’) is important as it is a prerequisite to developing personalised treatment approaches. Previous variability meta-analyses of response to antipsychotics in schizophrenia found no evidence for treatment effect heterogeneity. Conversely, individual patient data meta-analyses suggest treatment effect heterogeneity does exist. In the current paper we combine individual patient data with study level data to resolve this apparent contradiction and quantitively characterise antipsychotic treatment effect heterogeneity in schizophrenia.MethodIndividual patient data (IPD) was obtained from the Yale University Open Data Access (YODA) project. Clinical trials were identified in EMBASE, PsycInfo, and PubMed. Treatment effect heterogeneity was estimated from variability ratios derived from study-level data from 66 RCTs of antipsychotics in schizophrenia (N=17,202). This estimation required a correlation coefficient (ρ) between placebo response and treatment effects to be estimated. We estimated this from both study level estimates of the 66 trials, and individual patient data (N=560).ResultsBoth individual patient (ρ=-0.32, p=0.002) and study level (ρ=-0.38, p<0.001) analyses yielded a negative correlation between placebo response and treatment effect. Using these estimates we found evidence of clinically significant treatment effect heterogeneity for total symptoms (our most conservative estimate was SD = 13.5 Positive and Negative Syndrome Scale (PANSS) points). Mean treatment effects were 8.6 points which, given the estimated SD, suggests the top quartile of patients experienced beneficial treatment effects of at least 17.7 PANSS points, while the bottom quartile received no benefit as compared to placebo.ConclusionsWe found evidence of clinically meaningful treatment effect heterogeneity for antipsychotic treatment of schizophrenia. This suggests efforts to personalise treatment have potential for success, and demonstrates that variability meta-analyses of RCTs need to account for relationships between placebo response and treatment effects.