bluuebunny/crossref_metadata_2025_split huggingface dataset:
Assessment of Safe Early Fixation Strategies in a Cohort Polytraumatized Patients – How is the Surgical Treatment Influenced by the Injury Pattern?
Authors: Halva S , Pfeifer R , Klingebiel F K L , Kalbas Y , Berk T , Neuhaus V , Pape H C 
Published: May 2024

Abstract

Background
While the inital assessment and the intial treatment of potentially life-threatening injuries is well-described, the surgical treatment strategy following initial resuscitation remains controversial. Timepoint of surgery and type of surgery still reamin topic of discussions. Various, different strategies for optimal timing of fracture fixation in polytrauma patients exist.

Aims
This study tests the hypothesis that a concept of clearing patients for early definitive surgery that relies on anatomical and physiologic parameters is influenced by the injury distribution.

Methods
Polytrauma patients treated at a Level 1 trauma center (01.01.2016 - 31.12.2018). Inclusion: primary admission, injury severity score (ISS) ≥16points, requirement of surgical fixation of major extremity or a truncal injury. Exclusion: death &lt;72h after admission, severe traumatic brain injury (TBI). Stratification according to surgical fixation concept: Early total care (ETC, all surgeries &lt;24 h), safe definitive surgery (SDS, staged surgeries &lt;72h), and damage control orthopaedics (DCO, definitive care after stabilization). Endpoints: mortality, complication rates. Parameters of interest: Injury severity and distribution (ISS/AIS), pathophysiologic parameters of hemorrhagic shock, coagulopathy, hypothermia, soft tissue trauma.

Results
527 patients, mean age 54.8 SD19.9 years, mean ISS 26.9 SD9.0 points, mortality 20.5%. Group ETC (n=21, 3.9%), Group SDS (n = 284, 53.9%), Group DCO (n = 222, 42.1%). Abdominal and spinal injuries associated with ETC (AIS Abdomen; OR 2.1, 95%CI 1.1 to 4.0, p = 0.026: AIS Spine OR 2.0, 95%CI 1.2 to 3.4, p = 0.007). Extremity and pelvic injuries associated with SDS (OR 1.8, 95%CI 1.1 to 2.8, p = 0.012 and OR 1.3, 95%CI 1.0 to 1.7, p = 0.036), head injuries associated with DCO (OR1.5, 95%CI 1.3 to 1.8, p &lt;0.001). Head injuries were most relevant for mortality and were associated with patients undergoing DCO (29.7%) (ETC; 23.8%, SDS; 13.0%).

Conclusion
The concept of staged early fixation for major extremity and axial injuries (SDS) was successfully applied in the majority of patients. Predominant head and abdominal injuries were associated with ETC or DCO. The injury distribution influences decision making towards surgical management that is associated with a low complication rate.
Small Cuts, Big Difference? The Impact of a Minimally Invasive Thoracic Phase during Ivor Lewis Esophagectomy on Long-Term Quality of Life of Esophageal Cancer Patients
Authors: Neuschütz K , Fourie L , Germann N , Pieters A , Däster S , Angehrn F , Klasen J , Müller B , Steinemann D , Bolli M 
Published: May 2024

Abstract

Background
Due to improved survival of esophageal cancer patients, long-term quality of life (QoL) is increasingly gaining importance. We analyzed QoL of patients treated with open Ivor Lewis esophagectomy (Open-E) or a hybrid operation including laparotomy and a robot-assisted thoracic phase (hRob-E), as well as a standard group of healthy individuals.

Aims
The aim of this study is to evaluate the impact of a minimally invasive compared to an open approach during the thoracic phase of Ivor Lewis esophagectomies on quality of life.

Methods
With a median follow-up of 36 months after hRob-E (n=28) and 40 months after Open-E (n=43), patients' QoL was assessed using the European Organization for Research and Treatment of Cancer (EORTC) QoL Questionnaire Core 30 (QLQ-C30) and the EORTC Esophagus specific QoL questionnaire 18 (QLQ-OES18).

Results
Patients showed similar clinical-histological characteristics, yet hRob-E patients had significantly higher ASA scores at surgery (p&lt;0.001). Patients and healthy controls reported similar global health status, emotional and cognitive functions. All of the surgically treated cancer patients reported reduced role and social functioning, fatigue, nausea and vomiting, dyspnea and diarrhea. However, physical functioning of Open-E patients was significantly reduced compared to healthy controls (p=0.019). In addition, a trend towards a better pain score after hRob-E compared to Open-E emerged (p=0.063). Regarding QLQ-OES18, hRob-E and Open-E treated patients similarly reported eating problems, reflux, and troubles swallowing saliva.

Conclusion
The general health status is not impaired after esophagectomy. Despite higher ASA scores, QoL of hRob-E patients is similar to that of patients operated with Open-E. Moreover, patients after hRob-E appear to have a better score regarding physical functioning and a better pain profile than patients after Open-E, indicating a benefit of a minimally invasive approach during the thoracic phase.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Authors: Harel Tamar , Spicher Camille , Scheer Elisabeth , Buchan Jillian G , Cech Jennifer , Folland Chiara , Frey Tanja , Holtz Alexander M , Innes A Micheil , Keren Boris , Macken William L , Marcelis Carlo , Otten Catherine E , Paolucci Sarah A , Petit Florence , Pfundt Rolph , Pitceathly Robert D S , Rauch Anita , Ravenscroft Gianina , Sanchev Rani , Steindl Katharina , Tammer Femke , Tyndall Amanda , Devys Didier , Vincent Stéphane D , Elpeleg Orly , Tora László 
Published: May 2024

Abstract
Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzymes (DUBs) have been implicated in neurodevelopmental disorders and congenital abnormalities. ATXN7L3 is a component of the DUB module of the Spt-Ada-Gcn5 acetyltransferase (SAGA) complex and two other related DUB modules, and it serves as an obligate adaptor protein of three ubiquitin-specific proteases (USP22, USP27X or USP51).
Through exome sequencing and by using GeneMatcher, we identified nine individuals with heterozygous variants in ATXN7L3. The core phenotype included global motor and language developmental delay, hypotonia and distinctive facial characteristics, including hypertelorism, epicanthal folds, blepharoptosis, a small nose and mouth, and low-set, posteriorly rotated ears.
To assess pathogenicity, we investigated the effects of a recurrent nonsense variant [c.340C&gt;T; p.(Arg114Ter)] in fibroblasts of an affected individual. ATXN7L3 protein levels were reduced, and deubiquitylation was impaired, as indicated by an increase in histone H2Bub1 levels.
This is consistent with the previous observation of increased H2Bub1 levels in Atxn7l3-null mouse embryos, which have developmental delay and embryonic lethality. In conclusion, we present clinical information and biochemical characterization supporting ATXN7L3 variants in the pathogenesis of a rare syndromic neurodevelopmental disorder.
1H-nuclear magnetic resonance analysis reveals dynamic changes in the metabolic profile of patients with severe burns
Authors: Su Sen , Zhang Yong , Wu Dan , Wang Chao , Hu Jianhong , Wei Yan , Peng Xi 
Published: May 2024

Abstract

Background
Severe burn injury causes a hypermetabolic response, resulting in muscle protein catabolism and multiple organ damage syndrome. However, this response has not yet been continuously characterized by metabolomics in patients. This study aims to quantify temporal changes in the metabolic processes of patients with severe burns.

Methods
We employed 1H-nuclear magnetic resonance (NMR) spectroscopy to scrutinize metabolic alterations during the initial 35 days following burn injury in a cohort of 17 adult patients with severe burns, with 10 healthy individuals included as controls. Plasma specimens were collected from patients on postburn days 1, 3, 7, 14, 21, 28 and 35. After performing multivariate statistical analysis, repeated-measures analysis of variance and time-series analysis, we quantified changes in metabolite concentrations.

Results
Among the 36 metabolites quantified across 119 samples from burn patients, branched-chain amino acids, glutamate, glycine, glucose, pyruvate, lactate, trimethylamine N-oxide and others exhibited obvious temporal variations in concentration. Notably, these metabolites could be categorized into three clusters based on their temporal characteristics. The initial response to injury was characterized by changes in lactate and amino acids, while later changes were driven by an increase in fatty acid catabolism and microbial metabolism, leading to the accumulation of ketone bodies and microbial metabolites.

Conclusions
Metabolomics techniques utilizing NMR have the potential to monitor the intricate processes of metabolism in patients with severe burns. This study confirmed that the third day after burn injury serves as the boundary between the ebb phase and the flow phase. Furthermore, identification of three distinct temporal patterns of metabolites revealed the intrinsic temporal relationships between these metabolites, providing clinical data for optimizing therapeutic strategies.
Multimodal neuroimaging network associated with executive function in adolescent major depressive disorder patients via cognition-guided magnetic resonance imaging fusion
Authors: Liao Qi-Meng , Liu Yi-Lin , Dou Yi-Kai , Du Yue , Wang Min , Wei Jin-Xue , Zhao Lian-Sheng , Yang Xiao , Ma Xiao-Hong 
Published: May 2024

Abstract
Adolescents are high-risk population for major depressive disorder. Executive dysfunction emerges as a common feature of depression and exerts a significant influence on the social functionality of adolescents. This study aimed to identify the multimodal co-varying brain network related to executive function in adolescent with major depressive disorder. A total of 24 adolescent major depressive disorder patients and 43 healthy controls were included and completed the Intra-Extra Dimensional Set Shift Task. Multimodal neuroimaging data, including the amplitude of low-frequency fluctuations from resting-state functional magnetic resonance imaging and gray matter volume from structural magnetic resonance imaging, were combined with executive function using a supervised fusion method named multimodal canonical correlation analysis with reference plus joint independent component analysis. The major depressive disorder showed more total errors than the healthy controls in the Intra-Extra Dimensional Set Shift task. Their performance on the Intra-Extra Dimensional Set Shift Task was negatively related to the 14-item Hamilton Rating Scale for Anxiety score. We discovered an executive function-related multimodal fronto-occipito-temporal network with lower amplitude of low-frequency fluctuation and gray matter volume loadings in major depressive disorder. The gray matter component of the identified network was negatively related to errors made in Intra-Extra Dimensional Set Shift while positively related to stages completed. These findings may help to deepen our understanding of the pathophysiological mechanisms of cognitive dysfunction in adolescent depression.
Cardio-oncology rehabilitation: are we ready?
Authors: Bisceglia Irma , Venturini Elio , Canale Maria Laura , Ambrosetti Marco , Riccio Carmine , Giallauria Francesco , Gallucci Giuseppina , Abrignani Maurizio G , Russo Giulia , Lestuzzi Chiara , Mistrulli Raffaella , De Luca Giovanni , Maria Turazza Fabio , Mureddu Gianfrancesco , Di Fusco Stefania Angela , Lucà Fabiana , De Luca Leonardo , Camerini Andrea , Halasz Geza , Camilli Massimiliano , Quagliariello Vincenzo , Maurea Nicola , Fattirolli Francesco , Gulizia Michele Massimo , Gabrielli Domenico , Grimaldi Massimo , Colivicchi Furio , Oliva Fabrizio 
Published: May 2024

Abstract
Cardio-oncology rehabilitation (CORE) is not only an essential component of cancer rehabilitation but also a pillar of preventive cardio-oncology. Cardio-oncology rehabilitation is a comprehensive model based on a multitargeted approach and its efficacy has been widely documented; when compared with an ‘exercise only’ programme, comprehensive CORE demonstrates a better outcome. It involves nutritional counselling, psychological support, and cardiovascular (CV) risk assessment, and it is directed to a very demanding population with a heavy burden of CV diseases driven by physical inactivity, cancer therapy-induced metabolic derangements, and cancer therapy-related CV toxicities. Despite its usefulness, CORE is still underused in cancer patients and we are still at the dawning of remote models of rehabilitation (tele-rehabilitation). Not all CORE is created equally: a careful screening procedure to identify patients who will benefit the most from CORE and a multidisciplinary customized approach are mandatory to achieve a better outcome for cancer survivors throughout their cancer journey. The aim of this paper is to provide an updated review of CORE not only for cardiologists dealing with this peculiar population of patients but also for oncologists, primary care providers, patients, and caregivers. This multidisciplinary team should help cancer patients to maintain a healthy and active life before, during, and after cancer treatment, in order to improve quality of life and to fight health inequities.
SURGERY OF TYPE A AORTIC DISSECTIONS: WHAT HAS CHANGED? SINGLE CENTER EXPERIENCE
Authors: Fiorentino M , Mikus E , Calvi S , Panzavolta M , Ceresa R , Sangiorgi D , Tripodi A , Savini C 
Published: May 2024

Abstract

Introduction
Our knowledge on type A aortic dissection (ATAAD) has evolved, and there are some differences in surgical approach. In this paper, we focused on what changed in the surgical treatment of ATAAD and on the impact of these changes on patients’ survival, analyzing our center experience and comparing it with literature latest evidences.

Materials and Methods
From 2010 to 2022, 342 consecutive patients underwent surgery for Acute Type A Aortic dissection at our institution. In order to identify changes in these patients’ management over time, we divided our population in two groups according to the year of surgery: Group A before 2016 (146 patients) and Group B after 2016 (196 patients).

Results
Patients from Group B (after 2016) showed more comorbidities and a worse clinical presentation than patients from Group A (chronic kidney disease 9.2% vs 2.1% p=0.006, neurological deficit on admission 8.7% vs 0% p &lt; 0.001, cardiac tamponade 12.2% vs 0.7% p &lt; 0.001, and pre–operative catecholamine support 4.1% vs 0% p=0.012). Also of pre–operative malperfusion was more frequent (coronary 6.6% vs 0% p &lt; 0.001 and peripheral 6.6% vs 0% p &lt; 0.001). In Group B in 70.4% of the population the circulatory arrest with antegrade selective cerebral perfusion was used vs 30.8% in Group A (p &lt; 0.001) and we find a bigger percentage of emiarch replacement (43.4% vs 23.3% P=0.008) and total arch replacement (27% vs 13.7% p=0.017) than in Group A. In–hospital mortality resulted to be 10.2% with no differences between the groups. Neurological events (p&lt;0.001) and post–operative dialysis (p=0.036) were more frequent in Group B. On the other hand, in Group A post–operative cardiac tamponade (9.65 vs 3.1% p=0.007) and red blood cells transfusions were higher.

Conclusions
Nowadays surgery is performed on more critical patients with higher surgical risk and the tendency is to perform more complex operations with replacement of a largest portion of the diseased aorta in order to reduce reintervention rate. Recently, clinical studies and guidelines highlighted the importance of creating a multidisciplinary aortic team to discuss and manage these patients in order to assure the best treatment options to each patient and to reduce mortality and morbidity.
CHARACTERISATION OF THE 12–LEAD ECG IN PAEDIATRIC CARRIERS OF PLAKOPHILLIN–2 GENE VARIANTS
Authors: Imperatore G , Montuoro S , Moscatelli S , Field E , Kaski J 
Published: May 2024

Abstract

Background and Aim
The PKP2 gene encodes the desmosomal protein Plakophilin–2, vital for cellular adhesion between cardiomyocytes. It is associated with classical Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a cardiac disorder that can cause malignant ventricular arrhythmias and sudden cardiac death in the young. The 12–lead electrocardiogram (ECG) is an important tool for diagnosis of ARVC but ECG patterns in paediatric carriers of PKP2 variants have not been previously systematically assessed.

Methods
The retrospective study enrolled paediatric (&lt;18 years) PKP2 gene carriers referred to Great Ormond Street Hospital between 2005 and 2023. Their ECGs were analysed and compared with an age and gender–matched healthy population using paired two–tailed χ2–test.

Results
28 PKP2 variant carriers (54% females) were identified, of which 2 (7%) were diagnosed with ARVC at the time of the ECG, with a mean age of 13.6 +∕– 4.8 years. These were compared to 28 healthy controls (mean age of 12.7 +/– 4.4 years). 17 carriers (60%) had low QRS voltages in the lateral leads, compared to 4 controls (16%). Fractioned QRS complexes were seen in the lateral leads in 19 (67%) and in the septal leads in 20 (71%), compared to 1 and 2 controls (3.5% and 7%, respectively). Abnormal T wave inversion (TWI) for age was found in 54% of the patients (29% in lateral leads) and flat T waves in 22 patients (78%); but these were not statistically–significantly different to controls.

Conclusions
Paediatric carriers of PKP2 gene variants are more likely to have low QRS voltages and QRS fractionation in the lateral and anterior leads than normal controls, but the presence of abnormally inverted or flat T waves did not discriminate between gene carriers and controls. Our findings suggest that paediatric–specific ECG features may represent early phenotypic expression of PKP2 gene variants.
MAGNETIC RESONANCE AND CARDIAC IMPLANTABLE DEVICES: A SAFE COMBINATION
Authors: Saporito D , Fabbri F , Spighi L , Trevisi N , Ottani F 
Published: May 2024

Abstract
Despite guidelines the presence of a cardiac implantable device (CIED) in a magnetic resonance (MR) ambient raises fears and perplexities and generates the often inappropriate request for support from the electrophysiologist. From January 2019 to November 2023 all patients with a cardiac implantable device (CIED) undergoing magnetic resonance (MR) were evaluated. All CIEDS were classified into three subgroups: MR–conditional, MR–unsafe and "non MR–conditional" (catheters and generators MR–conditional but of different manufacturers). No implantable loop recorders were enrolled. We performed a device control immediately before and after the RM procedure. We analyzed the percentage variations of each parameter (sensing, impedance and pacing threshold) pre– and post–MR and the variation versus the latest or the subsequent ambulatory control. 151 patients were proposed to undergo MR. 16 patients underwent multiple exams. The districts explored from RM were head (47%), column (21%), breast (1%), heart (3%), abdomen (20%), prostate (2%) and arms (16%). The median age was 70 years old, and 102 patients were males. CIEDS were pacemaker in 67% (3 leadless and 1 CRT–P), 33% defibrillators (5 S–ICD and 10 CRT–D). 85% of the systems were classified as MR–conditional, 3% as MR–unsafe and 12% as "non MR–conditional". The percentage median variation of atrial and ventricular sensing, impedance and threshold during the exam was 0%. MR did not significantly modify the parameters considered. No adverse events arise at the end of MR or in the days after. In our experience, there is no need for the presence of the electrophysiologist during the procedure due to safety even in "non MRI–conditional" or MR–unsafe patients.
CONTRAST STRESS ECHOCARDIOGRAPHY FINDINGS IN MYOCARDIAL BRIDGING COMPARED TO NORMAL CORONARY COURSE, WITH AND WITHOUT CORONARY ARTERY DISEASE
Authors: Tuttolomondo D , Gaibazzi N , Guerra E , Bergamaschi L , Pizzi C 
Published: May 2024

Abstract

Background
Myocardial bridging (MB) correlation with ischemia remains a diagnostic challenge. There is a lack of studies that have assessed MB using contrast stress echo and compared the findings with those in patients demonstrating a normal coronary course, with or without obstructive coronary artery disease (CAD).

Methods
We evaluated all consecutive patients who underwent contrast stress echocardiography and coronary computed tomography angiography (CCTA) due to suspected symptoms of CAD within 3 months in Parma Hospital. Coronary computed tomography angiography served as the reference standard for detecting MB and obstructive CAD. The patients were divided into 3 groups: (1) MB and no evidence of obstructive CAD (MB group, N = 64), (2) no evidence of obstructive CAD or MB (NoCAD group, N = 135), (3) obstructive CAD without MB (CAD group, N = 68).

Results
The coronary flow velocity reserve in the LAD (CFVR–LAD) was reduced in the MB and CAD groups, measuring 1.91 ± 0.21 and 1.82 ± 0.28, respectively, whereas it was 2.27 ± 0.34 in the NoCAD group (P &lt; .001). The MB and CAD groups exhibited a higher prevalence of reversible myocardial perfusion defects (rMPDs) compared to the NoCAD group (57.8% vs 64.7% vs 3.7%, P &lt; .001). Reversible wall motion abnormalities were frequently observed in the CAD group and rarely found in the MB and NoCAD groups (47.1% vs 18.8% vs 4.4%, P &lt; .001). In multivariable analyses, the presence of MB was independently associated with reduced CFVR–LAD (odds ratio = 14.55; 95% CI, 6.84–30.93; P &lt; .001) and the presence of rMPD (odds ratio = 37.96; 95% CI, 13.49–106.84; P &lt; .001). Patients with deep MB (&gt;2 mm depth) and very deep MB (≥5 mm depth) exhibited significantly greater CFVR–LAD reduction and rMPD than those with superficial MB.

Conclusions
Myocardial bridging is capable of inducing rMPD and reducing CFVR–LAD similar to obstructive CAD. The depth of the MB correlates with the abnormalities found in the stress echo evaluation. Contrast stress echo may serve as a valuable noninvasive tool for evaluating patients with MB.