bluuebunny/crossref_metadata_2025_split huggingface dataset:
Type 1 interferon activation in systemic sclerosis: a biomarker, a target or the culprit
Authors: Kakkar Vishal , Assassi Shervin , Allanore Yannick , Kuwana Masataka , Denton Christopher P. , Khanna Dinesh , Del Galdo Francesco 
Published: September 2022

Purpose of review
Activation of the type 1 interferon (T1 IFN) pathway has been implicated in the pathogenesis of systemic sclerosis (SSc) by an increasing number of studies, most of which share key findings with similar studies in systemic lupus erythematosus (SLE). Here we will focus on the evidence for T1 IFN activation and dysregulation in SSc, and the rationale behind targeting the pathway going forward.

Recent findings
An increased expression and activation of T1 IFN-regulated genes has been shown to be present in a significant proportion of SSc patients. TI IFN activation markers have been found to predict and correlate with response to immunosuppressive treatment as well as severity of organ involvement. As inhibition of the IFN-α receptor has been proven to be effective in active SLE, benefit may be seen in targeting the IFN pathway in SSc.

Summary
The role played by T1 IFN and its regulatory genes in SSc is becoming increasingly evident and strikingly similar to the role observed in SLE. This observation, together with the benefit of type 1 IFN targeting in SLE, supports the notion of a potential therapeutic benefit in targeting T1 IFN in SSc.
Dufourmentel Flap for Scalp Reconstruction
Authors: Viciana Enrique J. , Lessard Anne-Sophie 
Published: September 2022

Summary:
Transposition flaps are useful for reconstruction of many skin defects. Limberg described a rhomboid rotation flap in 1946. Dufourmentel described an improved version of the Limberg flap in 1962. The Dufourmentel flap is also a quadrangular rhomboid flap which can be used in any area of the body except for the central face, the fingers, and the volar hand. The design of the Dufourmentel flap creates a wider base for this random flap, thus making it more reliable. Where tissue loss is significant, or where skin and soft tissue elasticity is limited, double opposing Dufourmentel flaps are useful. A variation of the Dufourmentel flap is described where a circular defect is converted to a square. The line of greatest extensibility is marked through the circular defect or lesion. A square is marked around the circle with one corner of the square tilted 10–20 degrees counterclockwise from the line of greatest extensibility. After marking corners A, B, C, and D, lines are marked extending BD and CD. The first incision, DE, will bisect the angle created by extending BD and CD. The second incision, EF, is roughly perpendicular to CD extended, but the angle at E is opened up a bit to create a wider base for the flap. Point D will rotate to point B, E rotates to C, and F translates to D. The invisible line DF should be approximately parallel to the line of greatest extensibility. When the defect is relatively large or where the surrounding tissues have limited elasticity, the above-described ideal variation of the Dufourmentel flap may not be possible because the flap may not rotate and advance all the way around without tension. In this case, double opposing Dufourmentel type flaps have been found to be useful by meeting each other at the halfway point.
Pediatric Patient and Caregiver Satisfaction With the Use of Transabdominal Bowel Ultrasound in the Assessment of Inflammatory Bowel Diseases
Authors: Hudson Alexandra S. , Huynh Hien Q. , Novak Kerri L. , Ma Henry , Kuc Anna , Kim Justin , Almeida Patricia , Carroll Matthew W. , Wine Eytan , Isaac Daniela M. 
Published: September 2022

Objectives:Transabdominal bowel ultrasound (TABUS) is emerging as an attractive, noninvasive tool in inflammatory bowel disease (IBD). Patient and caregiver experience with TABUS is not well described. We aimed to determine pediatric patient and caregiver satisfaction with TABUS and the impact of IBD severity, gender, age, and a history of anxiety on satisfaction.Methods:Pediatric patients (0–18 years old) with suspected IBD prospectively underwent baseline TABUS, magnetic resonance enterography (MRE), blood work, stool studies, and endoscopy. Patients and their caregiver each completed a cross‐sectional satisfaction questionnaire (5‐point Likert scale) after the baseline investigations.Results:There were 54 patients included (67% male). The majority were completely satisfied and strongly agree TABUS was better tolerated than other investigations, regardless of disease severity (P > 0.05). Patients with higher Simple Endoscopic Score for Crohn Disease (SES‐CD) scores felt that TABUS increased their understanding of their IBD (P < 0.05) and disease location (P < 0.05). Patients with Crohn disease had similar responses to those with ulcerative colitis, but more strongly agreed that TABUS was better than MRE and endoscopy (P < 0.05). Those with anxiety did not have an increased level of worry about potential ultrasound findings (P > 0.05).Conclusions:Pediatric patients and their caregivers were highly satisfied with TABUS, preferring it to other modalities. It did not lead to increased worry, and was particularly important in those with severe IBD. These findings support wider implementation of this well tolerated and preferred monitoring tool in pediatrics.
Pediatric Endoscopy Blocks
Authors: Barakat Monique T. , Pei Francesca , Gugig Roberto 
Published: September 2022

Objectives:Endoscopic procedures are increasingly performed for children and adolescents and these interventions represent a central element of both pediatric gastroenterology (GI) care and revenues. It remains unclear, however, which scheduling paradigm maximizes efficiency of resource utilization and delivery of care in this arena. In this study, we evaluate the impact of shifting from shared endoscopy blocks to individual, provider‐specific endoscopy blocks for scheduling endoscopic procedures in our tertiary care academic center.Methods:The implemented endoscopy block system involves a single endoscopist performing procedures in an allocated room for the entire half‐day period of time, with most providers having 1–3.5 day blocks per month. We analyzed block fragmentation (multiple providers in a single block), block utilization, and procedure volume, comparing the 8‐month period prior to implementation of the block system (pre‐implementation period) with the 8‐month period following implementation of the block system (post‐implementation period). Provider satisfaction and perceptions were assessed by survey pre‐ and post‐implementation. Standard descriptive statistics were utilized for analysis.Results:In the pre‐ and post‐implementation periods, 22 half‐day blocks were allocated to pediatric GI. In the pre‐implementation period, mean utilization of these blocks was 65.9% (range: 47%–77%). In the post‐implementation period, mean % utilization was 79.8% (range: 64%–89%). Overall endoscopy procedure volume increased from 279 in the pre‐implementation period to 419 in the post‐implementation period. Provider perception of endoscopy efficiency was enhanced by the block system, with 68.4% of pediatric GI respondents rating endoscopy as “efficient” post‐implementation (vs 19% pre‐implementation) and 63.2% indicating that the block system directly enhanced efficiency. A total of 63.2% reported increased personal procedure volume and 84.2% reported perceived increase in overall procedure volume with block system implementation.Conclusions:Strategic approaches for scheduling endoscopic procedures carry the potential to enhance efficiency and experience for both providers and patients. Implementation of the endoscopy block system was associated with increased procedure volumes and block utilization as well as a more positive experience for the majority of providers. Schedule adjustments with analysis of associated efficiency and satisfaction metrics can optimize pediatric endoscopy practice.
Comprehensive Diagnostic Criteria for MELAS Syndrome; a Case Study Involving an Elderly Patient With MT-TWm.5541C>T Mutation
Authors: Wu Gang , Shen Yuguang , Zhu Feng , Tao Weiwei , Zhou Yuanlin , Ke Shaofa , Jiang Huihua 
Published: September 2022

Introduction:
The mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a matrilineal hereditary multisystem disease caused by mutations in the mitochondrial DNA. Although the initial diagnostic criteria correlate with a range of clinical phenotypes, including clinical onset after the age of 40, there is still lack of a unified single diagnostic standard for MELAS.

Case Report:
A 71-year-old female patient with recurrent stroke was reported. Magnetic resonance imaging showed a cerebral gyrus-like diffusion weighted imaging high signal lesion in the parietal-occipital lobe and the area of this lesion expanded with disease progression. The MRS result showed significantly inverted Lac/Lip peaks. The nucleic acid sequencing result displayed a MT-TWm.5541C>T mutation, and a 12.86% mutation rate in the blood sample. The patient had a 6-year history of type 2 diabetes.

Conclusion:
Patients with the MELAS syndrome may present with a variety of clinical manifestations. Our data demonstrated that, for patients with atypical cerebral infarction and suspected MELAS syndrome, gene sequencing and muscle biopsy should be performed in time. This case provides a reference for the diagnostic criteria of MELAS syndrome.
“Pediatric Outcomes Following Cranial Vault Remodeling with Restricted Use of Post-Operative Narcotics, a Retrospective Review.”
Authors: Smith Kayla J , Cimaroli Sawyer , Loo Rory , Havlik Robert J , Denny Arlen D , Klement Kristen A 
Published: September 2022

Background:
The appropriate use of narcotics for post-operative pain control is controversial due to potential medication induced complications. We seek to determine the effects of narcotics in the pediatric population following cranial vault remodeling surgeries.

Methods:
A retrospective review was performed on 160 consecutive patients who underwent cranial vault remodeling for craniosynostosis.

Results:
There was a statistically significant difference in total morphine equivalents in the group that experienced no emesis and those with at least one episode of emesis (0.97 morphine equivalents/kg vs 1.44 morphine equivalents/kg, p=0.05). There was a statistically significant difference in hospital morphine equivalents in the group with documented respiratory events, average of 2.3 morphine equivalents/kg versus 1.3, in the nonevent group (p=0.006). The patients that received dexmedetomidine had trend towards a decrease in hospital narcotic administration with equivalent pain control (1.2 morphine equivalents/kg versus 1.9, p = 0.09). There was a statistically significant positive correlation between total morphine equivalents for the hospitalization and hospital stay (r=0.27, p=0.001). The amount of morphine equivalents used in the first 24 hours was also found to be an independent predictor of a respiratory event (p=0.002 by multivariate logistic regression). Independent positive predictors of hospital stay were age (p< 0.001), ICU time (p<0.001), and total morphine equivalents for the hospitalization (p= 0.001) by multivariate analysis with linear regression.

Conclusions:
Our study demonstrates improvement in outcomes with decreased use of narcotics, which establishes that there is a need to further explore post-surgical recovery outcomes with multimodal pain control.
The Prevalence, Incidence, and Risk Factors for HIV Among Female Sex Workers—A Cohort Being Prepared for a Phase IIb HIV Vaccine Trial in Dar es Salaam, Tanzania
Authors: Faini Diana , Msafiri Frank , Munseri Patricia , Bakari Muhammad , Lyamuya Eligius , Sandström Eric , Biberfeld Gunnel , Nilsson Charlotta , Hanson Claudia , Aboud Said 
Published: September 2022

Background:
A cohort of female sex workers (FSWs) was established to determine HIV prevalence and incidence, and associated factors in preparation for a phase IIb HIV vaccine and pre-exposure prophylaxis trial (PrEPVacc).

Setting:
A cohort of FSWs in Dar es Salaam, Tanzania.

Methods:
FSWs aged 18–45 years were recruited using a respondent-driven sampling method. Social demographic data, HIV risk behavioral assessments, and blood samples for testing of HIV, syphilis, hepatitis B (HBV), and hepatitis C (HCV) infections were collected at baseline and then at 3, 6, 9, and 12 months. Poisson regressions were used to estimate the prevalence ratios for factors associated with HIV prevalence and to estimate the 12-month HIV incidence rate.

Results:
Between October and December 2018, a total of 773 FSWs were screened for eligibility and 700 were enrolled. The baseline prevalence of HIV, syphilis, HBV, and HCV was 7.6%, 1.2%, 1.7%, and 1.0%, respectively. HIV prevalence was associated with older age, using illicit drugs, and being infected with syphilis, HBV, or HCV. Attendance at 12 months was 80% (562/700). Twenty-one FSWs seroconverted during follow-up, giving a 12-month HIV incidence rate of 3.45 per 100 person-years at risk (95% CI; 2.25–5.28/100 person-years at risk). The HIV incidence rate was higher among FSWs aged 18–24 years, FSWs who used drugs, and those diagnosed with syphilis, HBV, or HCV.

Conclusion:
The high HIV incidence rate and retention rate among FSWs enrolled into the cohort demonstrate that this population is suitable for participation in HIV prevention trials.
Enhancing oxidative phosphorylation over glycolysis for energy production in cultured mesenchymal stem cells
Authors: Monsour Molly , Gorsky Anna , Nguyen Hung , Castelli Vanessa , Lee Jea-Young , Borlongan Cesar V. 
Published: September 2022

Objective
Strokes represent as one of the leading causes of death and disability in the USA, however, there is no optimal treatment to reduce the occurrence or improve prognosis. Preconditioning of tissues triggers ischemic tolerance, a physiological state that may involve a metabolic switch (i.e. from glycolysis to oxidative phosphorylation or OxPhos) to preserve tissue viability under an ischemic insult. Here, we hypothesized that metabolic switching of energy source from glucose to galactose in cultured mesenchymal stem cells (MSCs) stands as an effective OxPhos-enhancing strategy.

Methods
MSCs were grown under ambient condition (normal MSCs) or metabolic switching paradigm (switched MSCs) and then assayed for oxygen consumption rates (OCR) and extracellular acidification rate (ECAR) using the Seahorse technology to assess mitochondrial respiration.

Results
Normal MSCs showed a lower OCR/ECAR ratio than switched MSCs at baseline (P < 0.0001), signifying that there were greater levels of OxPhos compared to glycolysis in switched MSCs. By modulating the mitochondrial metabolism with oligomycin (time points 4–6), carbonyl cyanide 4-(trifluoromethoxy) phenylhydrazone (7–9), and rotenone and antimycin (time points 10–12), switched MSCs greater reliance on OxPhos was further elucidated (time points 5–12; P < 0.0001; time point 4; P < 0.001).

Conclusion
The metabolic switch from glycolytic to oxidative metabolism amplifies the OxPhos potential of MSCs, which may allow these cells to afford more robust therapeutic effects against neurological disorders that benefit from ischemic tolerance.
Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population
Authors: Guo Aiguo , Lun Peng , Chen Jianhua , Li Qinghua , Chang Kaihui , Li Teng , Pan Dun , Zhang Jinmai , Zhou Juan , Wang Ke , Zhang Qian , Yang Qiangzhen , Gao Chengwen , Wu Chuanhong , Jian Xuemin , Wen Yanqin , Wang Zhuo , Shi Yongyong , Zhao Xiangzhong , Sun Peng , Li Zhiqiang 
Published: September 2022

Background
Schizophrenia is a chronic brain disorder. Previously, the Schizophrenia Exome Sequencing Meta-analysis consortium identified 10 highest risk genes related to schizophrenia. This study aimed to analyze the relationship between the 10 highest risk genes identified by the SCHEMA and schizophrenia in a Chinese population.

Methods
A total of 225 variants in 10 genes were screened in a Chinese population of 6836 using a customized array. All variants were annotated through the Variant Effect Predictor tool, and the functional impacts of missense variants were assessed based on sorting intolerant from tolerant and PolyPhen-2 scores. The SHEsisPlus tool was used to analyze the association between risk genes and schizophrenia at the locus and gene levels.

Results
At the locus level, no missense variants significantly related to schizophrenia were found, but we detected three missense variants that appeared only in cases, including TRIO p. Arg1185Gln, RB1CC1 p. Arg1514Cys, and HERC1 p. Val4517Leu. At the gene level, five genes (TRIO, RB1CC1, HERC1, GRIN2A, and CACAN1G) with more than one variant analyzed were kept for the gene-level association analysis. Only the association between RB1CC1 and schizophrenia reached a significant level (OR = 1.634; 95% CI, 1.062–2.516; P = 0.025).

Conclusion
In this study, we determined that RB1CC1 might be a risk gene for schizophrenia in the Chinese population. Our results provide new evidence for recognizing the correlation of these risk genes with the Chinese schizophrenia population.
The impact of cognitive ability on multitalker speech perception in neurodivergent individuals
Authors: Lau Bonnie K. , Emmons Katherine , Maddox Ross K. , Estes Annette , Dager Stephen , (Astley) Hemingway Susan J. , Lee Adrian KC 
Published: September 2022

AbstractThe ability to selectively attend to one talker in the presence of competing talkers is crucial to communication. Here we investigate whether cognitive deficits in the absences of hearing loss can impair speech perception. We tested typical hearing, neurodivergent adolescents/adults with autism spectrum disorder, fetal alcohol spectrum disorder, and an age- and sex-matched neurotypical group. We found a strong correlation between IQ and speech perception, with individuals with lower IQ scores having worse speech thresholds. These results demonstrate that deficits in cognitive ability, despite intact peripheral encoding, can impair listening under complex conditions. These findings have important implications for conceptual models of speech perception and for audiological services to improve communication in real-world environments for neurodivergent individuals.
Volumetric Imaging of Human Mesenchymal Stem Cells (hMSCs) for Non-Destructive Quantification of 3D Cell Culture Growth
Authors: Benavides Oscar R. , Gibbs Holly C. , White Berkley P. , Kaunas Roland , Gregory Carl A. , Maitland Kristen C. 
Published: September 2022

AbstractThe adoption of cell-based therapies into the clinic will require tremendous large-scale expansion to satisfy future demand, and bioreactor-microcarrier cultures are best suited to meet this challenge. The use of spherical microcarriers, however, precludes in-process visualization and monitoring of cell number, morphology, and culture health. The development of novel expansion methods also motivates the advancement of analytical methods used to characterize these microcarrier cultures. A robust optical imaging and image-analysis assay to non-destructively quantify cell number and cell volume was developed. This method preserves 3D cell morphology and does not require membrane lysing, cellular detachment, or exogenous labeling. Complex cellular networks formed in microcarrier aggregates were imaged and analyzed in toto. Direct cell enumeration of large aggregates was performed in toto for the first time. This assay was successfully applied to monitor cellular growth of mesenchymal stem cells attached to spherical hydrogel microcarriers over time. Elastic scattering and fluorescence lightsheet microscopy were used to quantify cell volume and cell number at varying spatial scales. The presented study motivates the development of on-line optical imaging and image analysis systems for robust, automated, and non-destructive monitoring of bioreactor-microcarrier cell cultures.
A multiplex platform to identify mechanisms and modulators of proteotoxicity in neurodegeneration
Authors: Resnick Samuel J. , Qamar Seema , Sheng Jenny , Huang Lei Haley , Nixon-Abell Jonathon , Melore Schuyler , Chung Chyi Wei , Li Xuecong , Wang Jingshu , Zhang Nancy , Shneider Neil A. , Kaminski Clemens F. , Ruggeri Francesco Simone , Kaminski Schierle Gabriele S. , George-Hyslop Peter St , Chavez Alejandro 
Published: September 2022

AbstractNeurodegenerative disorders are a family of diseases that remain poorly treated despite their growing global health burden. A shared feature of many neurodegenerative disorders is the accumulation of toxic misfolded proteins. To gain insight into the mechanisms and modulators of protein misfolding, we developed a multiplex reverse genetics platform. Using this novel platform 29 cell-based models expressing proteins that undergo misfolding in neurodegeneration were probed against more than a thousand genetic modifiers. The resulting data provide insight into the nature of modifiers that act on multiple misfolded proteins as compared to those that show activity on only one. To illustrate the utility of this platform, we extensively characterized a potent hit from our screens, the human chaperone DNAJB6. We show that DNAJB6 is a general modifier of the toxicity and solubility of multiple amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD)-linked RNA-binding proteins (RBPs), including FUS, TDP-43, and hnRNPA1. Biophysical examination of DNAJB6 demonstrated that it co-phase separates with, and alters the behavior of FUS containing condensates by locking them into a loose gel-like state which prevents their fibrilization. Domain mapping and a deep mutational scan of DNAJB6 support the critical importance for DNAJB6 phase separation in its effects on multiple RNA-binding proteins. Crucially, these studies also suggest that this property can be further tuned to generate novel variants with enhanced activity that might illuminate potential avenues for clinical translation.