bluuebunny/crossref_metadata_2025_split huggingface dataset:
Deep learning super-resolution magnetic resonance spectroscopic imaging of brain metabolism and mutant isocitrate dehydrogenase glioma
Authors: Li Xianqi , Strasser Bernhard , Neuberger Ulf , Vollmuth Philipp , Bendszus Martin , Wick Wolfgang , Dietrich Jorg , Batchelor Tracy T , Cahill Daniel P , Andronesi Ovidiu C 
Published: May 2022

Abstract

Background
Magnetic resonance spectroscopic imaging (MRSI) can be used in glioma patients to map the metabolic alterations associated with IDH1,2 mutations that are central criteria for glioma diagnosis. The aim of this study was to achieve super-resolution (SR) MRSI using deep learning to image tumor metabolism in patients with mutant IDH glioma.

Methods
We developed a deep learning method based on generative adversarial network (GAN) using Unet as generator network to upsample MRSI by a factor of 4. Neural networks were trained on simulated metabolic images from 75 glioma patients. The performance of deep neuronal networks was evaluated on MRSI data measured in 20 glioma patients and 10 healthy controls at 3T with a whole-brain 3D MRSI protocol optimized for detection of d-2-hydroxyglutarate (2HG). To further enhance structural details of metabolic maps we used prior information from high-resolution anatomical MR imaging. SR MRSI was compared to ground truth by Mann–Whitney U-test of peak signal-to-noise ratio (PSNR), structure similarity index measure (SSIM), feature-based similarity index measure (FSIM), and mean opinion score (MOS).

Results
Deep learning SR improved PSNR by 17%, SSIM by 5%, FSIM by 7%, and MOS by 30% compared to conventional interpolation methods. In mutant IDH glioma patients proposed method provided the highest resolution for 2HG maps to clearly delineate tumor margins and tumor heterogeneity.

Conclusions
Our results indicate that proposed deep learning methods are effective in enhancing spatial resolution of metabolite maps. Patient results suggest that this may have great clinical potential for image guided precision oncology therapy.
Extra-CNS and dural metastases inFGFR3::TACC3fusion+ adult glioblastoma, IDH-wildtype
Authors: Kleinschmidt-DeMasters B K , Gilani Ahmed 
Published: May 2022

AbstractBackgroundAdult glioblastomas (GBMs), IDH-wildtype, WHO grade 4 with FGFR3::TACC3 fusion have a better prognosis than standard GBMs. Whether this extended survival leads to late biological consequences is unknown. Although constituting only 4% of all GBMs, FGFR3::TACC3 fusion-positive GBMs manifest recurrent morphological features that allow prediction of this subtype, possibly affecting trial eligibility and/or targeted therapies. However, we have previously shown that an identical histological pattern can be present in wildtype examples, and conversely, occasional FGFR3::TACC3 fusion-positive tumors lack this stereotypic morphology; thus, ultimately molecular characterization is required. We now report for the first time an adult with FGFR3::TACC3 fusion-positive GBM showing archetypal histological features who developed extracranial metastases to provide further insight into potential behavior of the GBM type.MethodsReport of a 70-year-old man with left parietal GBM who developed 2 subsequent metastases, all 3 of which were assessed by next-generation sequencing (NGS) and DNA methylation.ResultsBiopsy-proven dural metastases occurred at 8 months and cervical lymph node metastasis at 12-month post-diagnosis before the patient succumbed at 23 months. By NGS, all 3 tumors showed FGFR3::TACC3 fusion as well as an additional PDZD2::TERT fusion of uncertain significance. DNA methylation profiling demonstrated mesenchymal subtype in the initial biopsy and RTKII subtype in subsequent dural and lymph node metastases, indicating intratumor spatial heterogeneity or temporal evolution.ConclusionRarely, FGFR3::TACC3 fusion-positive GBM patients may develop dural and extracranial metastatic spread, the latter with subclass switching on epigenomic analysis.
A rare concurrence: bee venom associated acute tubular necrosis and acute interstitial nephritis
Authors: Waziri Bala , Alhaji Umar I , Oduwale Mubaraq A , Umar Halima Isah , Abdulmalik Aliyu M 
Published: May 2022

ABSTRACT
Acute kidney injury (AKI) is generally associated with increased morbidity and mortality and is even more devastating in patients with comorbidities. Although AKI due to multiple bee stings is well established in the literature, it is still a rare entity with complex pathophysiologic mechanisms. The most commonly reported histological findings in AKI due to bee stings is acute tubular necrosis (ATN), with a few studies attributing it to acute interstitial nephritis (AIN), whereas the concurrence of both ATN and AIN is rarely reported. We hereby present a 50-year-old known Type 2 diabetes mellitus patient with a prior normal renal function, who developed AKI following multiple stings from &gt;1000 bees. He had a kidney biopsy on account of non-recovery of his kidney function despite being on intermittent hemodialysis that showed combined features of ATN and AIN. He subsequently had a full recovery of his renal function following appropriate management.
Mosaic trisomy 13 and constitutional delay in puberty
Authors: Eltayeb Sara Yousif Hussein , Bashier Alaaeldin , Hussain Azza Abdulaziz Khalifa Bin 
Published: May 2022

ABSTRACT
Patau syndrome is the third most frequent chromosomal trisomy, with an estimated mortality rate that is about 50 times higher than the general neonatal mortality rate. Trisomy 13 mosaicism is a subtype that may result in a milder form of the disease, potentially leading to a longer life expectancy in these patients, allowing them to reach puberty. In this report, we discuss the case of a young boy who was evaluated for delayed puberty and karyotyping revealed mosaicism for trisomy 13. A detailed history, physical examination and appropriate laboratory studies and imaging were performed that showed a picture of suggestive of hypogonadotropic hypogonadism and an abnormal male karyotype with mosaicism for trisomy 13. To date, there is no clear explanation to the association between trisomy 13 and gonadal axis, specifically with normal imaging of pituitary. We postulate that delayed puberty could be a clinical feature of mosaic trisomy 13.
A case of total ophthalmoplegia associated with a COVID-19 infection: case report
Authors: Hajjar Doaa , Sultan Dana , Khalaf Abdullah , Hesso Hussein , Kayyali Ammar 
Published: May 2022

ABSTRACT
We are presenting a rare case of an acute complete external ophthalmoplegia with positive polymerase chain reaction (PCR) for SARS-CoV-2. Our case is the first case that depicts development of Tolosa-Hunt Syndrome (THS) following infection with COVID-19, with a challenging diagnosis and spontaneous improvement. A 65-year-old diabetic female presented with a complete external ophthalmopegia in the left eye and a severe left-sided headache. The PCR result for SARS-CoV-2 was positive. Brain and orbital computed tomography scan and magnetic resonance imaging were both unremarkable. We diagnosed the case as THS after ruling out other differential diagnoses. The patient refused to receive prednisone, so we had to observe her closely for 6 months during which period we recorded a spontaneous recovery. Acute ophthalmoplegia is a very challenging presentation. It needs full workup to exclude the wide range of differential diagnoses.
An Arabidopsispre-RNA processing8a (prp8a)missense allele restores splicing of a subset of mis-spliced mRNAs
Authors: Llinas Roxanna J , Xiong Jia Qi , Clark Natalie M , Burkhart Sarah E , Bartel Bonnie 
Published: May 2022

AbstractEukaryotic precursor mRNAs often harbor noncoding introns that must be removed prior to translation. Accurate splicing of precursor messenger RNA depends on placement and assembly of small nuclear ribonucleoprotein (snRNP) sub-complexes of the spliceosome. Yeast (Saccharomyces cerevisiae) studies established a role in splice-site selection for PRE-RNA PROCESSING8 (PRP8), a conserved spliceosome scaffolding protein of the U5 snRNP. However, analogous splice-site selection studies in multicellular eukaryotes are lacking. Such studies are crucial for a comprehensive understanding of alternative splicing, which is extensive in plants and animals but limited in yeast. In this work, we describe an Arabidopsis (Arabidopsis thaliana) prp8a mutant that modulates splice-site selection. We isolated prp8a-14 from a screen for suppressors of pex14-6, which carries a splice-site mutation in the PEROXIN14 (PEX14) peroxisome biogenesis gene. To elucidate Arabidopsis PRP8A function in spliceosome fidelity, we combined prp8a-14 with various pex14 splice-site mutations and monitored the double mutants for physiological and molecular consequences of dysfunctional and functional peroxisomes that correspond to impaired and recovered splicing, respectively. prp8a-14 restored splicing and PEX14 function to alleles with mutations in the exonic guanine of the 5′-splice site but did not restore splicing or function to alleles with mutations in the intronic guanine of 5′- or 3′-splice sites. We used RNA-seq to reveal the systemic impact of prp8a-14 and found hundreds of differentially spliced transcripts and thousands of transcripts with significantly altered levels. Among differentially spliced transcripts, prp8a-14 significantly altered 5′- and 3′-splice-site utilization to favor sites resulting in shorter introns. This study provides a genetic platform for probing splicing in plants and hints at a role for plant PRP8 in splice-site selection.
Sphingolipids are involved in insect egg-induced cell death in Arabidopsis
Authors: Groux Raphaël , Fouillen Laetitia , Mongrand Sébastien , Reymond Philippe 
Published: May 2022

AbstractIn Brassicaceae, hypersensitive-like programmed cell death (HR-like) is a central component of direct defenses triggered against eggs of the large white butterfly (Pieris brassicae). The signaling pathway leading to HR-like in Arabidopsis (Arabidopsis thaliana) is mainly dependent on salicylic acid (SA) accumulation, but downstream components are unclear. Here, we found that treatment with P. brassicae egg extract (EE) triggered changes in expression of sphingolipid metabolism genes in Arabidopsis and black mustard (Brassica nigra). Disruption of ceramide (Cer) synthase activity led to a significant decrease of EE-induced HR-like whereas SA signaling and reactive oxygen species levels were unchanged, suggesting that Cer are downstream activators of HR-like. Sphingolipid quantifications showed that Cer with C16:0 side chains accumulated in both plant species and this response was largely unchanged in the SA-induction deficient2 (sid2-1) mutant. Finally, we provide genetic evidence that the modification of fatty acyl chains of sphingolipids modulates HR-like. Altogether, these results show that sphingolipids play a key and specific role during insect egg-triggered HR-like.
Adipose tissue derived stromal cells in a gelatin-based 3D matrix with exclusive ascorbic acid signalling emerged as a novel neural tissue engineering construct: an innovative prototype for soft tissue
Authors: Martin Catherine Ann , Radhakrishnan Subathra , Gómez Ribelles Jose Luis , Trentz Omana Anna , EAK Nivethaa , Reddy Mettu Srinivas , Rela Mohamed , Kalkura Subbaraya Narayana 
Published: May 2022

Abstract
The current study investigated a triad, which comprises of adipose tissue derived stem cells isolated from infrapatellar fat pad and gelatin/polyvinyl alcohol (PVA)-based matrix with exclusive ascorbic acid signalling. Though, the bio-mechanical properties of the gelatin–PVA blended scaffolds in wet condition are equivalent to the ECM of soft tissues in general, in this study, the triad was tested as a model for neural tissue engineering. Apart from being cytocompatible and biocompatible, the porosity of the scaffold has been designed in such a manner that it facilitates the cell signalling and enables the exchange of nutrients and gases. The highly proliferative stem cells from Passage 2 were characterized using both, mesenchymal and embryonic stem cell markers. As an initial exploration the mesenchymal stem cells at Passage 4 were exposed to ascorbic acid and basic fibroblast growth factor signalling for neuronal differentiation in 2D environment independently. The MSCs successfully differentiated and acquired neuron specific markers related to cytoskeleton and synapses. Subsequently, three phases of experiments have been conducted on the 3D gelatin/PVA matrix to prove their efficacy, the growth of stem cells, growth of differentiated neurons and the in situ growth and differentiation of MSCs. The scaffold was conducive and directed MSCs to neuronal lineage under specific signalling. Overall, this organotypic model triad could open a new avenue in the field of soft tissue engineering as a simple and effective tissue construct.
Gold nanorods/tetrahedral DNA composites for chemo-photothermal therapy
Authors: He Ziyun , Wang Qiusheng , Zhang Nan , Yan Jianqin , Li Li , Cao Jun , He Bin 
Published: May 2022

Abstract
Combination therapy is extensively developed for cancer treatment in recent years due to its high efficiency. Herein, we constructed a nanocomposite based on gold nanorods (GNRs) and drug-loaded tetrahedral DNA nanostructures (TDN) for chemo-photothermal combinational therapy. Anti-tumor drug doxorubicin (DOX) was loaded via the insertion within GC base pairs of TDN. The aptamer AS1411 was attached to the apex of TDN (ATDN) to target tumor cells. The DOX-loaded DNA tetrahedron (ATDN-DOX) was compressed by the GNRs coated with PEI (GNRs@ATDN-DOX) to realize the photothermal function and lysosome escape. GNRs under the illumination of 808 nm infrared laser showed high photothermal conversion and stability due to the protection of PEI layer. The drug-loading capacity of ATDN-DOX was as high as 314 DOX molecules in per ATDN. The positive charge of PEI in GNRs@ATDN-DOX nanocomposites was utilized to achieve excellent cell penetration and induce proton sponge effect for lysosomal escape. The nanocomposites presented HeLa and 4T1 cells targeting and resulted in efficient anticancer activity.
Is time a healer? How quality of life changes over time reported by parents of children and young people with juvenile idiopathic arthritis
Authors: Smith Andrew D , Saqib Bishma , Lee Rebecca Rachael , Shoop-Worrall Stephanie , Hyrich Kimme L , McDonagh Janet E , Cordingley Lis 
Published: May 2022

Abstract

Objective
To investigate changes in health-related quality of life (HRQoL) in children and young people with JIA (Juvenile Idiopathic Arthritis) over 3 years following diagnosis.

Methods
Data on children and young people recruited to the Childhood Arthritis Prospective Study (CAPS) were selected if &gt;5 years of age at diagnosis. HRQoL was assessed at diagnosis (baseline), 1 year and 3 years using the proxy-reported Child Health Questionnaire (CHQ) completed by a parent or guardian. The CHQ measures aspects of HRQoL including physical functioning and mental health. Analyses included descriptive statistics, comparison with a US reference population and analysis of CHQ scores longitudinally and by gender and age of onset.

Results
Using CHQ data from parents/guardians of 182 CAPS study participants [median age 9.6 years (interquartile range 7.2–12.2)], all HRQoL domains significantly improved over the 3 year follow-up, except general health perceptions. Physical health domains showed greater improvement than psychosocial domains, although psychosocial scores were generally higher than physical scores throughout. Although similar at diagnosis, at 1 year females had significantly worse HRQoL than males in physical functioning (P = 0.03), bodily pain (P = 0.03), mental health (P = 0.00), social-emotional (P = 0.02) and social-physical (P &lt; 0.001). Differences largely remained at 3 years. Age at onset was not significantly associated with HRQoL.

Conclusion
Children and young people with JIA have low HRQoL across domains compared with the reference population. This improves within 3 years of diagnosis, with the greatest improvement within the first year. Early developmentally appropriate clinical intervention is recommended to reduce both psychosocial and physical impact of JIA. The lower HRQoL scores of females require further investigation.
Do alcohol and cannabis substitute or complement each other? Analysis from behavioral economics for formulating public policy on substance use in Colombia
Authors: Pereira-Morales Angela J , Eslava-Schmalbach Javier Hernando 
Published: May 2022

AbstractAfter alcohol and tobacco, cannabis is the third most used substance among young Colombian adults, and many consume alcohol and cannabis concomitantly. However, academics have debated whether these substances substitute or complement each other among consumers. Understanding the relationship between the price and demand for psychoactive substances can clarify consumption patterns and help to develop strategies to reduce harmful consumption. This paper summarizes worldwide evidence of both complementary and substitution relationships and discusses the most probable relationship types in Colombia based on its substance use patterns and current regulations. Like other countries, Colombia is considering legalizing recreational cannabis use. However, there is a growing concern that legalization would increase the negative impacts of cannabis and increase alcohol use among the young adult population. The lack of Colombian empirical studies about the impacts of legal changes on the cannabis market makes it difficult to predict how such changes would affect demand and price elasticities.
Tracheostomy Practices and Outcomes in Patients With COVID-19 Supported by Extracorporeal Membrane Oxygenation: An Analysis of the Extracorporeal Life Support Organization Registry
Authors: Kohne Joseph G. , MacLaren Graeme , Cagino Leigh , Boonstra Philip S. , Brodie Daniel , Barbaro Ryan P. 
Published: May 2022

OBJECTIVES:
The use of extracorporeal membrane oxygenation (ECMO) in patients with COVID-19 has been supported by major healthcare organizations, yet the role of specific management strategies during ECMO requires further study. We sought to characterize tracheostomy practices, complications, and outcomes in ECMO-supported patients with acute respiratory failure related to COVID-19.

DESIGN:
Retrospective cohort study.

SETTING:
ECMO centers contributing to the Extracorporeal Life Support Organization Registry.

PATIENTS:
Patients 16 years or older receiving venovenous ECMO for respiratory support for: 1) COVID-19 in 2020 and 2021 (through October 2021) and 2) pre-COVID-19 viral pneumonia in 2019.

INTERVENTIONS:
None.

MEASUREMENTS AND MAIN RESULTS:
We identified 7,047 patients who received ECMO support for acute respiratory failure related to COVID-19. A total of 32% of patients were recorded as having a tracheostomy procedure during ECMO, and 51% had a tracheostomy at some point during hospitalization. The frequency of tracheostomy was similar in pre-COVID-19 viral pneumonia, but tracheostomies were performed 3 days earlier compared with patients with COVID-19 (median 6.7 d [interquartile range [IQR], 3.0–12.0 d] vs 10.0 d [IQR, 5.0–16.5 d]; p < 0.001). More patients were mobilized with pre-COVID-19 viral pneumonia, but receipt of a tracheostomy during ECMO was associated with increased mobilization in both cohorts. More bleeding complications occurred in patients who received a tracheostomy, with 9% of patients with COVID-19 who received a tracheostomy reported as having surgical site bleeding.

CONCLUSIONS:
Tracheostomies are performed in COVID-19 patients receiving ECMO at rates similar to practices in pre-COVID-19 viral pneumonia, although later during the course of ECMO. Receipt of a tracheostomy was associated with increased patient mobilization. Overall mortality was similar between those who did and did not receive a tracheostomy.
Impact of Pain, Agitation, and Delirium Bundle on Delirium and Cognitive Function
Authors: WANG Xiao-Ping , LV Dan , CHEN Yun-Fang , CHEN Na , LI Xiao-Dong , XU Cheng-Fei , LI Yin , TIAN Li 
Published: May 2022

ABSTRACT

Background
Differences in short-term cognitive function between mechanically ventilated patients treated with multicomponent interventions and those receiving routine nursing care have not been established because of the lack of follow-up in previous studies.

Purpose
This study was designed to evaluate the effects of the pain, agitation, and delirium (PAD) care bundle on delirium occurrence and clinical outcomes, specifically in terms of short-term cognitive function, in mechanically ventilated patients.

Methods
Data on 243 patients with mechanical ventilation were analyzed from January 2017 to February 2019. The eligible patients were divided randomly into two groups. The control group (n = 120) received usual care, whereas the intervention group (n = 123) received the PAD bundle, including pain monitoring and management, light sedation and daily awakening, early mobility, sleep promotion, and delirium monitoring. The incidence and duration of delirium, ventilator time, and intensive care unit (ICU) length of stay were compared between the two groups. Upon discharge from the ICU and at 3 and 6 months after discharge, cognitive function was assessed using the Montreal Cognitive Assessment scale and compared between the two groups.

Results
The incidence of delirium was reduced significantly in the intervention group, and significant decreases in the duration of delirium, ventilator time, and ICU length of stay were found. Cognitive impairment in the intervention group was significantly lower at the 3-month follow-up assessment.

Conclusions/Implications for Practice
The PAD bundle was shown to be associated with a lower incidence of delirium and improved clinical outcomes. Short-term cognitive impairment occurred in fewer patients who were managed with the PAD bundle after ICU discharge. Our findings indicate that the PAD bundle has the potential to improve clinical outcomes. The administrative staff of ICUs should use strategies, such as interdisciplinary teamwork, to facilitate the buy-in and implementation of interventions.
Reconstruction of the thumb interphalangeal joint from the second toe proximal interphalangeal joint combined with artificial dermis covering
Authors: Wen Haihua , Deng Weicong , Hong Yongchang , Lin Zhengjiang 
Published: May 2022

Abstract

Rationale:
Thumb function is one of the most fundamental components of hand function, and a vast majority of hand functions are derived from thumb motion. Injury of the thumb interphalangeal joint has a tremendous impact on the function of the thumb, and damage to the thumb interphalangeal joint (IPJ) caused by trauma is usually accompanied by dislocation of the surrounding skin; therefore, it is particularly important to restore the thumb anatomy and skin coverage.

Patient concerns:
A 41-year-old woman presented with IPJ disfigurement accompanied by a local skin defect caused by machine compression of her right thumb. Restoring the appearance and function of the thumb is key to this operation.

Diagnoses:
Open fracture of the right thumb.

Interventions:
After detailed preoperative and radiographic evaluation, the appearance and function of the thumb were reconstructed by IPJ grafting and artificial dermis covering.

Outcomes:
At 4 months’ follow-up, the patient's visual analogue score was 0, no complications (eg, osteomyelitis, osteolysis, osteoarthritis, and nonunion of the artificial dermis) were observed, and the range of motion of the thumb IPJ returned to 60% of that of the healthy side.

Lessons:
The innovative application of the second toe proximal IPJ flap combined with double-layer artificial dermis covering to reconstruct the thumb IPJ defect not only solves the problem of skin defects in the recipient area after transplantation in previous cases but also restores the beauty of the recipient area, making it easier for patients to accept this surgical program.