bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spinal Muscular Atrophy (SMA) Type 1 Survival Without New Pharmacotherapies: Two Treatment Paradigms
Authors: Bach John R. , Saporito A-Louis , Weiss William 
Published: October 2023

Abstract

Objectives
To present noninvasive respiratory management outcomes using continuous noninvasive ventilatory support (CNVS) and mechanical in-exsufflation (MIE) from infancy for SMA type 1 and to consider bearing on new medical therapies.

Design
NVS was begun for consecutively referred symptomatic infants with SMA type 1 from 1 to 10 months of age. Intercurrent episodes of respiratory failure were managed by intubation then extubation to CNVS and MIE despite failing ventilator weaning and extubation attempts. Intubations, tracheotomies, and survival were monitored.

Results
Of 153 patients with SMA1 consecutively referred since 1995, 37 became CNVS dependent, almost half before 10 years of age. Of the 37, 18 required CNVS for a mean 18.6 ± 3.3 years to a mean 25.3 (range 18-30) years of age, dependent from as young as 4 months of age with 0 to 40 ml of vital capacity. One of the 18 died from COVID-19 ARDS at age 24 after 23 years of CNVS. Extubation success rate of 85% per attempt (150/176) resulted in only one undergoing tracheotomy.

Conclusion
Medical treatments begun during the first 6 weeks of age convert SMA1 into SMA2 or 3 but cough flows remain inadequate to avoid many pneumonias that, once resolved by a treatment paradigm of extubation to CNVS and MIE, eliminates need to resort to tracheotomies.
Sky-High Safety? A Qualitative Study of Physicians’ Experiences of Patient Safety in Norwegian Helicopter Emergency Services
Authors: Rasmussen Kristen , Sollid Stephen JM , Kvangarsnes Marit 
Published: October 2023

Background
Patients treated and transported by Helicopter Emergency Medical Services (HEMS) are prone to both flight and medical hazards, but incident reporting differs substantially between flight organizations and health care, and the extent of patient safety incidents is still unclear.

Methods
A qualitative descriptive study based on in-depth interviews with 8 experienced Norwegian HEMS physicians from 4 different bases from February to July 2020 using inductive qualitative content analysis. The study objectives were to explore the physicians’ experience with incident reporting and their perceived areas of risk in HEMS.

Results/Findings
The HEMS physicians stated that the limited number of formal incident reports was due to the “nature of the HEMS missions” and because reports were mainly relevant when deviating from procedures, which are sparse in HEMS. The physicians preferred informal rather than formal incident reporting systems and reporting to a colleague rather than a superior. The reasons were ease of use, better feedback, and less fear of consequences. Their perceived areas of risk were related to all the phases of a HEMS mission: the physician as the team leader, medication errors, the handover process, and the helicopter as a work platform.

Conclusions
The sparse, informal, and fragmented incident reporting provides a poor overview of patient safety risks in HEMS. Focusing on organizational factors and system responsibility and research on environmental and contextual factors are needed to further improve patient safety in HEMS.
FDG PET/CT Image of Extramedullary Plasmacytoma in the Anterior Mediastinum
Authors: Xiao Liu , Li Lin 
Published: October 2023

Abstract
Extramedullary plasmacytoma in the anterior mediastinum is very rare. We report FDG PET/CT findings of anterior mediastinum extramedullary plasmacytoma in a 54-year-old woman. On FDG PET/CT, it presented as a solitary anterior mediastinum mass with increased FDG uptake. The final pathology supported a diagnosis of extramedullary plasmacytoma. This case hints us that extramedullary plasmacytoma should be regarded as a differential diagnosis when we encounter a solitary anterior mediastinum mass with intense FDG uptake.
Multiple Intrahepatic Inflammatory Myofibroblastic Tumor on 68Ga-FAPI and 18F-FDG PET/CT
Authors: Li Tianyue , Liu Ziliang , Zhang Zhaoqi , Zhang Jingmian , Zhao Xinming 
Published: October 2023

Abstract
A 31-year-old man with multiple intrahepatic inflammatory myofibroblastoma tumor was referred to nuclear medicine department to assess its malignant potential. Multiple lesions in the liver exhibited 68Ga-FAPI uptake at different degrees. Instead, there was no abnormal 18F-FDG activity in the other hepatic lesions under the normal liver background except for the puncture site. This case reflects tumor heterogeneity of the disease and shows the potential value of 68Ga-FAPI PET/CT for the evaluation of hepatic inflammatory myofibroblastoma tumor.
Metabolic Superscan on 18F-FDG PET/CT in a Patient With Secondary Hyperparathyroidism
Authors: Mohd Rohani Mohd Fazrin , Bujang Nur Liyana , Rosdi Abdullah Hanif , Amir Hassan Siti Zarina 
Published: October 2023

Abstract
Superscan on PET/CT has been reported in the literature and mainly involved metastatic diseases. We report an uncommon case of a metabolic superscan on 18F-FDG PET/CT in a 56-year-old man with end-stage renal disease on hemodialysis who presented with secondary hyperparathyroidism. Parathyroid scintigraphy showed 2 lesions posteroinferior to both thyroid lobes, suggestive of parathyroid adenoma/hyperplasia. FDG PET/CT performed to assess for pulmonary nodules revealed diffuse FDG hypermetabolism involving the visualized skull, mandible, spine, sternum, ribs, and appendicular skeleton without corresponding CT lesion with no urinary radiotracer excretion, consistent with metabolic superscan secondary to renal osteodystrophy.
Impact of Perioperative Immunonutrition on Postoperative Outcomes for Patients Undergoing Head and Neck or Gastrointestinal Cancer Surgeries
Authors: Matsui Ryota , Sagawa Masano , Sano Akihiko , Sakai Makoto , Hiraoka Shin-ichiro , Tabei Isao , Imai Takayuki , Matsumoto Hideo , Onogawa Seiji , Sonoi Norihiro , Nagata Shigeyuki , Ogawa Ryo , Wakiyama Shigeki , Miyazaki Yasuhiro , Kumagai Koshi , Tsutsumi Rie , Okabayashi Takehiro , Uneno Yu , Higashibeppu Naoki , Kotani Joji 
Published: October 2023

Objective:
To clarify whether perioperative immunonutrition is effective in adult patients with or without malnutrition undergoing elective surgery for head and neck or gastrointestinal (GI) cancers.

Background:
It is important to avoid postoperative complications in patients with cancer as they can compromise clinical outcomes. There is no consensus on the efficacy of perioperative immunonutrition in patients with or without malnutrition undergoing head and neck or GI cancer surgery.

Methods:
We searched MEDLINE (PubMed), MEDLINE (OVID), EMBASE, Cochrane Central Register of Controlled Trials, Web of Science Core Selection, and Emcare from 1981–2022 using search terms related to immunonutrition and head and neck or GI cancer. We included randomized controlled trials. Intervention was defined as immunonutritional therapy including arginine, n-3 omega fatty acids, or glutamine during the perioperative period. The control was defined as standard nutritional therapy. The primary outcomes were total postoperative and infectious complications, defined as events with a Clavien–Dindo classification grade ≥ II that occurred within 30 days after surgery.

Results:
Of the 4825 patients from 48 included studies, 19 had upper GI cancer, nine lower, and eight mixed, while 12 had head and neck cancers. Immunonutrition reduced the total postoperative complications (relative risk ratio:0.78; 95% confidence interval:0.66, 0.93; certainty of evidence: high) and infectious complications (relative risk ratio:0.71; 95% confidence interval:0.61, 0.82; certainty of evidence: high) compared with standard nutritional therapy.

Conclusions:
Nutritional intervention with perioperative immunonutrition in patients with head and neck and gastrointestinal cancers significantly reduced total postoperative complications and infectious complications.
Referral and Prescription Patterns for Female Patients With Urinary Incontinence
Authors: Luebke Marie C. , Davidson Emily R.W. , Crotty Bradley H. , Fergestrom Nicole , O'Connor R. Corey , Schmitt Emily , Winn Aaron N. , Flynn Kathryn E. , Neuner Joan M. 
Published: October 2023

Importance
Although behavioral modifications, medications, and other interventions can improve urinary incontinence (UI), many women never receive them.

Objectives
To better characterize UI treatment patterns in primary care, we examined prescriptions and referrals to pelvic floor physical therapy (PFPT) and specialist physicians within a large Midwestern academic health system.

Study Design
Electronic health records were queried to identify a cohort of adult female patients receiving a new UI diagnosis during outpatient primary care visits from 2016 to 2020. Urinary incontinence referrals and referral completion were examined for the overall cohort, and medication prescriptions were examined for women with urgency or mixed UI. Logistic regression was used to assess the association of prescriptions and/or referrals with patient demographics, comorbidities, and UI diagnosis dates.

Results
In the year after primary care UI diagnosis, 37.2% of patients in the overall cohort (n = 4,382) received guideline-concordant care. This included 20.6% of women who were referred for further management: 17.7% to urology/urogynecology and 3.2% to PFPT. Most women who were referred attended an initial appointment. Among those with urgency (n = 2,398) or mixed UI (n = 552), 17.1% were prescribed medication. Women with stress (odds ratio [OR], 3.10; 95% CI, 2.53–3.79) and mixed UI (OR, 6.17; 95% CI, 4.03–9.66) were more likely to be referred for further management, and women diagnosed during the COVID-19 pandemic were less likely to be referred for further care (OR, 0.39; 95% CI, 0.29, 0.48).

Conclusion
Only slightly above 1 in 3 women with a new diagnosis of UI in primary care received guideline-based medications or referrals within 1 year, suggesting missed opportunities for timely care.
Getting out of the bay faster: Assessing trauma team performance using trauma video review
Authors: Maiga Amelia W. , Vella Michael A. , Appelbaum Rachel D. , Irlmeier Rebecca , Ye Fei , Holena Daniel N. , Dumas Ryan P. ,   the TVRC Investigators
Published: October 2023

BACKGROUND
Minutes matter for trauma patients in hemorrhagic shock. How trauma team function impacts time to the next phase of care has not been rigorously evaluated. We hypothesized better team performance scores to be associated with decreased time to the next phase of trauma care.

METHODS
This retrospective secondary analysis of a prospective multicenter observational study included hypotensive trauma patients at 19 centers. Using trauma video review, we analyzed team performance with the validated Non-Technical Skills for Trauma scale: leadership, cooperation and resource management, communication, assessment/decision making, and situational awareness. The primary outcome was minutes from patient arrival to next phase of care; deaths in the bay were excluded. Secondary outcomes included time to initiation and completion of first unit of blood and inpatient mortality. Associations between team dynamics and outcomes were assessed with a linear mixed-effects model adjusting for Injury Severity Score, mechanism, initial blood pressure and heart rate, number of team members, and trauma team lead training level and sex.

RESULTS
A total of 441 patients were included. The median Injury Severity Score was 22 (interquartile range, 10–34), and most (61%) sustained blunt trauma. The median time to next phase of care was 23.5 minutes (interquartile range, 17–35 minutes). Better leadership, communication, assessment/decision making, and situational awareness scores were associated with faster times to next phase of care (all p < 0.05). Each 1-point worsening in the Non-Technical Skills for Trauma scale score (scale, 5–15) was associated with 1.6 minutes more in the bay. The median resuscitation team size was 12 (interquartile range, 10–15), and larger teams were slower (p < 0.05). Better situational awareness was associated with faster completion of first unit of blood by 4 to 5 minutes (p < 0.05).

CONCLUSION
Better team performance is associated with faster transitions to next phase of care in hypotensive trauma patients, and larger teams are slower. Trauma team training should focus on optimizing team performance to facilitate faster hemorrhage control.

LEVEL OF EVIDENCE
Therapeutic/Care Management; Level III.
Parkinson’s Disease Detection using XGBoost and Machine Learning
Authors: Santos Dheiver Francisco 
Published: October 2023

AbstractThis article explores the application of machine learning, specifically the XGBoost algorithm, for the early detection of Parkinson’s disease. Parkinson’s disease is a prevalent neurodegenerative condition that poses diagnostic challenges, particularly in its early stages. To address these challenges, a comprehensive dataset, including vocal frequency measurements, audio analyses, and demographic data, is employed. Data preprocessing techniques, including Min-Max scaling and Synthetic Minority Over-sampling Technique (SMOTE), are applied to prepare the dataset. The XGBoost model is then developed and fine-tuned to achieve an accuracy of approximately 93.33% in detecting Parkinson’s disease. The model exhibits high precision, recall, and F1-Score, making it a valuable tool for early disease detection in the healthcare domain. The study highlights the transformative potential of machine learning in improving patient outcomes and healthcare efficiency.
The stress-induced lincRNAJUNIis a critical factor for cancer cell survival whose interactome is a prognostic signature in clear cell renal cell carcinoma
Authors: Kumar Vikash , Sabaté-Cadenas Xavier , Soni Isha , Stern Esther , Vias Carine , Ginsberg Doron , Romá-Mateo Carlos , Pulido Rafael , Dodel Martin , Mardakheh Faraz K. , Ben-Dov Iddo Z. , Shkumatava Alena , Shaulian Eitan 
Published: October 2023

AbstractCancer cells rely on adaptive mechanisms to survive the multiple stressors they encounter, including replication stress, toxic metabolic products and exposure to genotoxic drugs. Understanding the factors involved in these stress responses is crucial for developing effective treatments. Here, we describe a previously unstudied long non-coding RNA (lncRNA),JUNI(JUN-DT,LINC01135), which is regulated by MAPK and responsive to stress.JUNIpositively regulates the expression of its neighboring geneJUN, a key transducer of signals that regulate multiple transcriptional outputs. Our findings reveal that silencingJUNIsensitizes cancer cells to chemotherapeutic drugs or UV radiation, and that its prolonged silencing leads to cell death regardless of stress exposure, highlighting the pro-survival importance ofJUNI.We identified 57 proteins that interact withJUNIand found that the activity of one of them, the MAPK phosphatase and inhibitor DUSP14, is inhibited byJUNI. This effect results in c-Jun induction following exposure of cancer cells to UV radiation and promotes cellular survival. AlthoughJUNIregulates c-Jun and its downstream targets, the pro-survival effects in cells not exposed to stress are only partially dependent on c-Jun regulation.JUNIexpression levels significantly correlate with patients survival across 11 different types of cancer. Interestingly, the correlation of DUSP14 expression levels with patients survival in nine of these tumors is coherently inverse, indicating contradicting effects that are relevant not only for c-Jun induction and cellular survival but also in human cancer. Notably, we observed particularly significant antagonistic correlations in clear cell renal cell carcinoma (ccRCC) (p=5.7E-05 forJUNIand p=2.9E- 05 for Dusp14). In fact, the expression levels of 76% ofJUNI-interacting proteins predict the prognosis of ccRCC patients significantly. Furthermore, a combined hazard ratio calculation demonstrates that this gene combination serves as a highly specific prognostic signature for ccRCC. Overall, our findings reveal a new important factor in stress signaling and cellular survival that is involved in ccRCC.
Increased spontaneous Ca2+activity in Cardiac Purkinje cells after myocardial infarction; A consequence of a dramatic shift of SERCA isoforms as potential adaptation to acute ischemia?
Authors: Stuyvers Bruno D. , Boyden Penelope A. , Amin Ruhul , Wiede Louisa , Doré Jules , ter Keurs Henk E.D.J. , Dun Wen , Guo Yunbo , Haissaguerre Michel , Hocini Meleze , Brette Fabien , Bernus Olivier , Chaigne Sebastien , Loyer Virginie , Naulin Jerome , Quesson Bruno , Alafiatayo Akinola , Benoukraf Touati 
Published: October 2023

AbstractBackgroundStudies of Purkinje cells (Pcells) from canine hearts have suggested an increase of Ca2+-release by the sarcoplasmic reticulum (SR) but also reported a potential augmentation of SR-Ca2+-uptake after MI. Abnormal increase of SR-Ca2+-uptake in heart cells is novel and contrasts with the reduction of this function in cells of failing heart. Our study examined the origin of this increased SR-Ca2+-uptake by considering a change in SR-Ca2+pump (SERCA2) expression in Purkinje fibers (PFs) post MI.MethodsPcells were isolated from canine hearts 48Hrs post MI. Intracellular Ca2+-activity was captured by confocal microscopy. Purkinje-typical Ca2+events were analyzed to probe the regional Ca2+-dynamics within Pcells. A Purkinje-specific numerical model assisted in the interpretation of Ca2+-anomalies detected in Pcells Ca2+-transients. SR-Ca2+-uptake system was studied by immunofluorescence in Pcells from canine, ovine and human hearts post MI. SERCA protein and gene expressions in PFs and myocardium were measured by Western Blots and RT-qPCR in a classical porcine model of MI.Results48Hrs after MI, Pcells showed 60% increase in spark-rate and 37% acceleration of Ca2+wave decay. In the model of normal wave, 35% increase of Ca2+-uptake rate reproduced the actual post-MI wave alterations. In apparent contrast with increased Ca2+-uptake rate, SERCA2 protein expression was reduced in canine, sheep, and human Pcells after MI. In pig MI model, the protein level of cardiac-specific SERCA2-splicing variant SERCA2a was reduced by 52% in the whole infarcted ventricle whereas the “non-cardiac” SERCA2b level was increased by 120%. In the infarcted regions, PFs showed 30% downregulation of SERCA2a gene expression and 630% upregulation of SERCA2b.ConclusionOur results confirm that elevated spontaneous Ca2+-activity in post-MI PFs is due to increased SR-Ca2+-uptake within Pcells. Data suggest that a replacement of “cardiac” SERCA2a by the “non-cardiac” SERCA2b sub-isoform in cardiac cells in response to ischemia is implicated in this alteration.
Factor H-related protein 3 (FHR-3) deposition in kidney allografts – localization and correlation with complement activation
Authors: Poppelaars Felix , Schäfer Nicole , Meter-Arkema Anita H. , Purohit Shrey , Faria Bernardo , da Costa Mariana Gaya , Holers V. Michael , Daha Mohamed R. , Pauly Diana , Seelen Marc A. , Thurman Joshua M. 
Published: October 2023

AbstractIntroductionFactor H-related proteins (FHRs) have emerged as novel players in complement-mediated diseases, as they exhibit structural resemblances to factor H but lack the regulatory domains, enabling them to antagonize factor H and increase complement activation through several activities. Despite the widely importance of the complement system in kidney transplantation, FHRs have not been studied in this context. Utilizing a novel monoclonal antibody, we investigated the presence of FHR-3 in kidney allografts.MethodsThe RTEC-2 monoclonal antibody was validated using immunohistochemistry, Western Blot analysis, and immunoprecipitation combined with mass spectrometry. FHR-3 deposition, localization, and the relationships to complement activation were analyzed in human kidney biopsies obtained pre-transplantation from living and deceased donors, and post-transplantation in cases with acute tubular necrosis, acute cellular and vascular rejection, or chronic rejection.ResultsGlomerular FHR-3 deposition was detected in kidneys from deceased, but not living, donors before transplantation. Additionally, we observed FHR-3 deposition in post-transplant settings, both in cases of rejection and non-rejection. While tubular and vascular deposition of FHR-3 was observed in some cases, FHR-3 was predominantly seen in the glomeruli, where it was primarily localized to podocytes. Moreover, co-localization of FHR-3 and C3d was rarely detected, with most cases exhibiting separate and non-overlapping staining patterns for both antigens, However, there was a moderate correlation between the staining intensity of the FHR-3 and C3d in the kidney biopsies (r=0.38, P=0.01).ConclusionWe detected FHR-3 deposition in kidney allografts under inflammatory conditions, primarily colocalizing with podocytes in both the presence and absence of complement activation.
Overexpression of mitochondrial fusion genes enhances resilience and extends longevity
Authors: Traa Annika , Keil Allison , Rudich Zenith , Zhu Shusen , Van Raamsdonk Jeremy M. 
Published: October 2023

AbstractThe dynamicity of the mitochondrial network is crucial for meeting the ever-changing metabolic and energy needs of the cell. Mitochondrial fission promotes the degradation and distribution of mitochondria, while mitochondrial fusion maintains mitochondrial function through the complementation of mitochondrial components. Previously, we have reported that mitochondrial networks are tubular, interconnected and well-organized in young, healthyC. elegans, but become fragmented and disorganized with advancing age and in models of age-associated neurodegenerative disease. In this work, we examine the effects of increasing mitochondrial fission or mitochondrial fusion capacity by ubiquitously overexpressing the mitochondrial fission genedrp-1or the mitochondrial fusion genesfzo-1andeat-3, individually or in combination. We then measured mitochondrial function, mitochondrial network morphology, physiologic rates, stress resistance and lifespan. Surprisingly, we found that overexpression of either mitochondrial fission or fusion machinery both resulted in an increase in mitochondrial fragmentation. Similarly, both mitochondrial fission and mitochondrial fusion overexpression strains have extended lifespans and increased stress resistance, which appears to be at least partially due to the upregulation of multiple stress response pathways in these strains. Overall, our work demonstrates that increasing the expression of mitochondrial fission or fusion genes extends lifespan and improves biological resilience without promoting the maintenance of a youthful mitochondrial network morphology. This work highlights the importance of the mitochondria for both resilience and longevity.