bluuebunny/crossref_metadata_2025_split huggingface dataset:
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases
Authors: Robert Thomas , Raymond Laure , Dancer Marine , Torrents Julia , Jourde-Chiche Noémie , Burtey Stéphane , Béroud Christophe , Mesnard Laurent 
Published: April 2023

ABSTRACT

Background
According to data from large national registries, almost 20%–25% of patients with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data have shown that monogenic disease-causing variants are under-diagnosed. We performed exome sequencing (ES) on UKD patients in our center to improve the diagnosis rate.

Methods
ES was proposed in routine practice for patients with UKD including kidney biopsy from January 2019 to December 2021. Mutations were detected using a targeted bioinformatic customized kidney gene panel (675 genes). The pathogenicity was assessed using American College of Medical Genetics guidelines.

Results
We included 230 adult patients, median age 47.5 years. Consanguinity was reported by 25 patients. A family history of kidney disease was documented in 115 patients (50%). Kidney biopsies were either inconclusive in 69 patients (30.1%) or impossible in 71 (30.9%). We detected 28 monogenic renal disorders in 75 (32.6%) patients. Collagenopathies was the most common genetic kidney diagnosis (46.7%), with COL4A3 and COL4A4 accounting for 80% of these diagnoses. Tubulopathies (16%) and ciliopathies (14.7%) yielded, respectively, the second and third genetic kidney diagnosis category and UMOD-associated nephropathy as the main genetic findings for tubulopathies (7/11). Ten of the 22 patients having ES “first” eventually received a positive diagnosis, thereby avoiding 11 biopsies. Among the 44 patients with glomerular, tubulo-interstitial or vascular nephropathy, 13 (29.5%) were phenocopies. The diagnostic yield of ES was higher in female patients (P = .02) and in patients with a family history of kidney disease (P &lt; .0001), reaching 56.8% when the patient had both first- and second-degree family history of renal disease.

Conclusion
Genetic diagnosis has provided new clinical insights by clarifying or reclassifying kidney disease etiology in over a third of UKD patients. Exome “first” may have a significant positive diagnostic yield, thus avoiding invasive kidney biopsy; moreover, the diagnostic yield remains elevated even when biopsy is impossible or inconclusive. ES provides a clinical benefit for routine nephrological healthcare in patients with UKD.
A case report of pulmonary artery intimal sarcoma negative for 18F-FDG mimicking pulmonary thromboembolism
Authors: Koike Takuma , Iwata Hiroshi , Hirose Kuniaki , Minamino Tohru 
Published: April 2023

Abstract

Background
Pulmonary artery sarcoma is a rare malignant neoplasm arising from intimal mesenchymal cells in the pulmonary artery wall and is often difficult to differentiate from pulmonary embolism, however, 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) can be useful for a differential diagnosis. Here, we present a rare case of pulmonary sarcoma undetectable by PET.

Case summary
A 77-year-old woman who had worsening dyspnoea on effort for a month and progressive chest discomfort with nocturnal cough for a week presented to our hospital. Contrast-enhanced computed tomography (CT) demonstrated a massive filling defect in the left pulmonary artery (PA). Two major differential diagnoses were considered; pulmonary thromboembolism and tumour-like lesions. Positron emission tomography-computed tomography (PET-CT) revealed that there was no abnormal accumulation of 18F-FDG in the mass. However, even after effective anti-thrombotic treatment for 3 weeks, a follow-up CT showed no reduction at all in the size of the lesion in the pulmonary artery. Therefore, surgery for diagnostic therapeutic purposes was performed.

Discussion
The present case is informative because it supports the idea that being aware of PA angiosarcoma as a potential differential diagnosis of pulmonary thromboembolism is essential, particularly in cases of no evident peripheral venous thrombosis and a negative D-dimer test, even if neither heterogenous contrast enhancement in CT and magnetic resonance imaging nor accumulation of 18-FDG in PET-CT is evident.
Cardiac tamponade-mediated generalized coronary vasospasm presenting as an inferior ST-segment elevation myocardial infarction: a case report
Authors: Saxon Cara , Freeman Scott , Burke Joseph 
Published: April 2023

Abstract

Background
Coronary vasospasm is a rare cause of ST-segment elevation myocardial infarction (STEMI) and can be precipitated by numerous inciting factors including endogenous catecholamines. Differentiating coronary vasospasm from an acute atherothrombotic event is diagnostically challenging and requires a careful clinical history combined with electrocardiographic and angiographic abnormalities to make the diagnosis and guide therapy.

Case Summary
We report a case of cardiogenic shock secondary to cardiac tamponade leading to an endogenous catecholamine surge resulting in profound arterial vasospasm and STEMI. The patient presented with chest pain and inferior ST segment elevations prompting emergent coronary angiography, demonstrating subtotal occlusion of the right coronary artery, severe proximal left anterior descending coronary artery stenosis, and diffusely stenosed aortoiliac vessels. Emergent transthoracic echocardiogram revealed a large pericardial effusion and hemodynamics consistent with cardiac tamponade. Pericardiocentesis resulted in dramatic hemodynamic improvement with immediate normalization of ST segments. Repeat coronary angiography performed one day later showed no angiographically significant coronary or peripheral arterial stenosis.

Discussion
This is the first reported case of simultaneous coronary and peripheral arterial vasospasm presenting as inferior STEMI caused by endogenous catecholamines from cardiac tamponade. Several clues suggest coronary vasospasm including the discordant electrocardiography (ECG) and coronary angiographic findings as well as diffusely stenosed aortoiliac vessels. Diffuse vasospasm was confirmed when repeat angiography performed after pericardiocentesis demonstrated angiographic resolution of coronary and peripheral arterial stenosis. Though rare, circulating endogenous catecholamines resulting in diffuse coronary vasospasm may present as STEMI and should be considered based on the clinical history, ECG findings, and coronary angiography.
Hybrid surgical epicardial cryoablation for ventricular tachycardia in the electrophysiology laboratory: a case report
Authors: Jathanna Nikesh , Shanmuganathan Selvaraj , Staniforth Andrew , Jamil-Copley Shahnaz 
Published: April 2023

Abstract

Background
Scar-related ventricular tachycardia (VT) is a challenging medical condition, with catheter ablation providing a valuable treatment option. Whilst most VTs can be ablated endocardially, epicardial ablation is often required in patients with non-ischaemic cardiomyopathy. The percutaneous subxiphoid technique has become instrumental for epicardial access. However, it is not feasible in up to 28% of cases for multiple reasons.

Case summary
A 47-year-old patient was managed at our centre for VT storm and recurrent implantable cardioverter defibrillator shocks for monomorphic VT despite maximum drug therapy. No scar was noted during endocardial mapping, with confirmation of the localized epicardial scar on cardiac magnetic resonance imaging (CMR). Following failed percutaneous epicardial access, a successful hybrid surgical epicardial VT cryoablation via median sternotomy was performed in the electrophysiology (EP) laboratory utilizing data from CMR, prior endocardial ablation, and conventional EP mapping. The patient has remained arrhythmia-free for 30 months post-ablation without antiarrhythmic therapy.

Discussion
This case describes a practical multidisciplinary approach to managing a challenging clinical problem. Whilst the described technique is not entirely novel, this is the first case report that describes the practicalities and demonstrates the safety and feasibility of hybrid epicardial cryoablation via median sternotomy performed in the cardiac EP laboratory for the sole treatment of VT.
Urban Sprawl and Social Capital: Evidence from Indonesian Cities
Authors: Civelli Andrea , Gaduh Arya , Rothenberg Alexander D , Wang Yao 
Published: April 2023

Abstract
We use detailed data from Indonesian cities to study how variation in density within urban areas affects social capital. For identification, we instrument density with soil characteristics, and control for community averages of observed characteristics. Under plausible assumptions, these controls address sorting on observables and unobservables. We find that lower density increases trust in neighbours and community participation. We also find that lower density is associated with reduced interethnic tolerance, but this relationship is explained by sorting. Heterogeneity analysis suggests that crime in dense areas undermines community trust and participation, intensifying the negative impact of density.
MR guided cardiac ablation: how to build an interventional magnetic resonance suite and what's the role of the imaging
Authors: Fusco Armando , De Ruvo Ermenegildo , Stefanini Matteo , Borrelli Alessio , Ferrazza Alessandro , De Luca Lucia , Simonetti Giovanni , Calò Leonardo 
Published: April 2023

Abstract
Magnetic resonance (MR) represents a new interesting imaging approach for guiding electrophysiology (EP)-based ablation procedures of atrial flutter and typical atrial fibrillation. This new approach permits to reach good results if compared with conventional EP ablation. Tissue characterization by MR permits to detect cardiac anatomy and pathological substrate like myocardial scars well visualized with late gadolinium enhancement (LGE) sequences. Intra-procedural imaging is useful to real-time follow the catheter during the ablation procedure and at the same time to visualize cardiac anatomy in addition to understanding if the ablation is correctly performed using oedema sequences. Performing cardiac ablations inside an MR room permits to reduce radiation exposure and occupational illnesses.
Stage-specific therapy for hypertrophic cardiomyopathy
Authors: Argirò Alessia , Zampieri Mattia , Marchi Alberto , Cappelli Francesco , Del Franco Annamaria , Mazzoni Carlotta , Cecchi Franco , Olivotto Iacopo 
Published: April 2023

Abstract
Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease and is defined by otherwise unexplained left ventricular hypertrophy. The main complications include heart failure and arrhythmias such as atrial fibrillation and ventricular arrhythmias. Current treatment rests on septal reduction therapies, prevention of sudden cardiac death through implantable cardioverter defibrillator, and use of drugs such as beta-blockers, calcium antagonists, or amiodarone. In the last years, new pharmacological agents specifically targeting the pathophysiology of the disease have been developed with encouraging results in terms of functional capacity and symptoms improvement from clinical trials. In this review, we summarize the possible treatment approaches for each phase of the natural history of the disease: pre-phenotype expression, classic phenotype, adverse remodelling, and overt dysfunction.
Cardiac resynchronization therapy: present and future
Authors: Schiavone Marco , Arosio Roberto , Valenza Simone , Ruggiero Diego , Mitacchione Gianfranco , Lombardi Leonida , Viecca Maurizio , Forleo Giovanni Battista 
Published: April 2023

Abstract
Cardiac resynchronization therapy (CRT) via biventricular pacing (BVP) is a well-established therapy for patients with heart failure with reduced ejection fraction and left bundle branch block, who remain symptomatic despite optimal medical therapy. Despite the long-standing clinical evidence, as well as the familiarity of cardiac electrophysiologists with the implantation technique, CRT via BVP cannot be achieved or may result ineffective in up to one-third of the patients. Therefore, new alternative techniques, such as conduction system pacing and left ventricular pacing, are emerging as potential alternatives to this technique, not only in case of BVP failure, but also as a stand-alone first choice due to several potential advantages over traditional CRT. Specifically, due to its procedural characteristics, left bundle branch area pacing appears to be the most convincing technique, showing comparable efficacy outcomes when compared with traditional CRT, not increasing short-term device-related complications, as well as improving procedural times. However, transvenous leads remain a major limitation of all these pacing modalities. To overcome this limit, a leadless left ventricular endocardial pacing has been developed as an additional tool to achieve a left endocardial activation, although being still associated with non-negligible pitfalls, limiting its current use in clinical practice. This article focuses on the current state and latest progresses in cardiac resynchronization therapy.
Cardiac magnetic resonance-guided cardiac ablation: a case series of an early experience
Authors: De Zan Giulia , Calò Leonardo , Borrelli Alessio , Guglielmo Marco , De Ruvo Ermenegildo , Rier Sophie , van Driel Vincent , Ramanna Hemanth , Patti Giuseppe , Rebecchi Marco , Fusco Armando , Stefanini Matteo , Simonetti Giovanni , van der Bilt Ivo 
Published: April 2023

Abstract
Radiofrequency (RF) catheter ablation has become a widely used therapeutic approach. However, long-term results in terms of arrhythmia recurrence are still suboptimal. Cardiac magnetic resonance (CMR) could offer a valuable tool to overcome this limitation, with the possibility of targeting the arrhythmic substrate and evaluating the location, depth, and possible gaps of RF lesions. Moreover, real-time CMR-guided procedures offer a radiation-free approach with an evaluation of anatomical structures, substrates, RF lesions, and possible complications during a single procedure. The first steps in the field have been made with cavotricuspid isthmus ablation, showing similar procedural duration and success rate to standard fluoroscopy-guided procedures, while allowing visualization of anatomic structures and RF lesions. These promising results open the path for further studies in the context of more complex arrhythmias, like atrial fibrillation and ventricular tachycardias. Of note, setting up an interventional CMR (iCMR) centre requires safety and technical standards, mostly related to the need for CMR-compatible equipment and medical staff’s educational training. For the cardiac imagers, it is fundamental to provide correct CMR sequences for catheter tracking and guide RF delivery. At the same time, the electrophysiologist needs a rapid interpretation of CMR images during the procedures. The aim of this paper is first to review the logistic and technical aspects of setting up an iCMR suite. Then, we will describe the experience in iCMR-guided flutter ablations of two European centres, Policlinico Casilino in Rome, Italy, and Haga Teaching Hospital in The Hague, the Netherlands.
The association of intensive blood pressure treatment and non-fatal cardiovascular or serious adverse events in older adults with mortality: mediation analysis in SPRINT
Authors: Krishnaswami Ashok , Rich Michael W , Kwak Min Ji , Goyal Parag , Forman Daniel E , Damluji Abdulla A , Solomon Matthew , Rana Jamal S , Kado Deborah M , Odden Michelle C 
Published: April 2023

Abstract

Aims
Randomized clinical trials of hypertension treatment intensity evaluate the effects on incident major adverse cardiovascular events (MACEs) and serious adverse events (SAEs). Occurrences after a non-fatal index event have not been rigorously evaluated. The aim of this study was to evaluate the association of intensive (&lt;120 mmHg) to standard (&lt;140 mmHg) blood pressure (BP) treatment with mortality mediated through a non-fatal MACE or non-fatal SAE in 9361 participants in the Systolic Blood Pressure Intervention Trial.

Methods and results
Logistic regression and causal mediation modelling to obtain direct and mediated effects of intensive BP treatment. Primary outcome was all-cause mortality (ACM). Secondary outcomes were cardiovascular (CVM) and non-CV mortality (non-CVM). The direct effect of intensive treatment was a lowering of ACM [odds ratio (OR) 0.75, 95% confidence interval (CI): 0.60–0.94]. The MACE-mediated effect substantially attenuated (OR 0.96, 95% CI: 0.92–0.99) ACM, while the SAE-mediated effect was associated with increased (OR 1.03, 95% CI: 1.01–1.05) ACM. Similar patterns were noted for intensive BP treatment on CVM and non-CVM. We also noted that SAE incidence was 3.9-fold higher than MACE incidence (13.7 vs. 3.5%), and there were a total of 365 (3.9%) ACM cases, with non-CVM being 2.6-fold higher than CVM [2.81% (263/9361) vs. 1.09% (102/9361)]. The SAE to MACE and non-CVM to CVM preponderance was found across all age groups, with the ≥80-year age group having the highest differences.

Conclusion
The current analytic techniques demonstrated that intensive BP treatment was associated with an attenuated mortality benefit when it was MACE-mediated and possibly harmful when it was SAE-mediated. Current cardiovascular trial reporting of treatment effects does not allow expansion of the lens to focus on important occurrences after the index event.
Using photovoice to explore Bolivian children’s experiences of COVID-19
Authors: Gallego Gisselle , Cardona Beatriz , Scholz Brett 
Published: April 2023

SummaryOur capacity to facilitate the empowerment of children is dependent on our ability to understand their values and experiences. This study aimed to explore Bolivian children’s experiences of COVID-19. This study used a participatory action research method, photovoice, which involved focus groups, individual interviews and the use of cameras by participants to capture their reality and express their ideas through photographs. Ten participants aged 12–15 years were recruited from a school in the municipality of Mecapaca in Bolivia. Thematic analysis was used to identify and report response patterns. Four themes were developed through analysis: (i) sadness and fear of getting sick, (ii) the challenges of online learning, (iii) the tension between traditional knowledge and modern medicine, and (iv) the role of nature and culture in supporting well-being—natural and cultural capital. The narratives and choice of images by the children illustrate some issues and experiences. These findings also highlighted the importance of considering and exploring how children’s experiences and interactions with their habitat, nature and their physical environment impacts on their health and well-being.
YouTube as a Source of Information for Food, Diet-Related Items, and Advisory Comments for the Management of Inflammatory Bowel Disease
Authors: Gkikas Konstantinos , Wan Mhairi , Svolos Vaios , Nichols Ben , Hansen Richard , Russell Richard K , Gerasimidis Konstantinos 
Published: April 2023

Abstract

Background
Patients with inflammatory bowel disease (IBD) often use the Internet to seek information beyond that received from healthcare professionals. This study assessed the perceptions of YouTube presenters on the role of diet in the management of IBD.

Methods
Videos discussing dietary aspects (food, diet-related items, and advisory comments [FODRIACs]) in the management of IBD were included. The perceptions of presenters toward each FODRIAC were labeled as positive, negative, or neutral/intermediate, and FODRIACs were classified according to their underlying role in the management of IBD (eg, symptom management, gut inflammation). Subgroup analysis was performed by type of video presenter (patients vs healthcare professionals), type of IBD (Crohn’s disease vs ulcerative colitis), and reporting of scientific evidence supporting presenters’ perceptions.

Results
We identified 122 FODRIACs within 160 videos. Patient videos received a higher number of likes (median 85 [interquartile range, 35-156]) than healthcare professional videos (median 44 [interquartile range, 16-1440]) (P = .01). Scientific evidence was cited in 2 (3%) of 76 patient videos compared with 25 (35%) of 71 healthcare professional videos (P &lt; .001). Positive perceptions were expressed about avocadoes, salmon, bananas, white bread, and rice, whereas negative perceptions were reported for processed, high-fat and high-sugar foods and carbonated drinks. Fewer negative perceptions were expressed in videos supported by scientific evidence than in videos that lacked evidence (scientific: 4 positive, 0 negative vs nonscientific: 7 positive, 20 negative; P = .01).

Conclusions
We have identified FODRIACs proposed as beneficial or detrimental in the management of IBD. The effect this information has on dietary practice as patients with IBD self-manage their condition needs further exploration.
The freshwater Brachyura (Decapoda: Potamidae, Gecarcinucidae, Sesarmidae) of the Anambas and Natuna Islands, Kepulauan Riau Province, Indonesia
Authors: Ng Peter K L , Wowor Daisy , Yeo Darren C J 
Published: April 2023

AbstractWe report on the freshwater crabs of the families Potamidae, Gecarcinucidae, and Sesarmidae in the archipelago of Anambas and Natuna Islands in Indonesia. Five genera (one new) and eight species (four new) are now recorded from the islands. For the Potamidae, a new genus and a new species, Natunamon indonesicumn. sp., is described from Natuna; the taxon has diagnostic characters intermediate between IsolapotamonBott, 1968 and IbanumNg, 1995 from Borneo. A new species of Isolapotamon, I. remotumn. sp., is also described from Anambas; this is the first record of the genus outside Borneo and Mindanao, Philippines. For the Gecarcinucidae, the rare Balssiathelphusa natunaensisBott, 1970 is collected for the first time since its description, although the type was collected over 120 years ago; the species is redescribed in detail and the composition of the genus discussed. The widely distributed gecarcinucid, Parathelphusa maculataDe Man, 1879 is also recorded from Anambas and Natuna. Four species of Sesarmidae are reported: Geosesarma insulare Ng, 1986 (from Anambas), G. teschi Ng, 1986 (from Natuna), G. anambasn. sp. (from Anambas) and G. hashimin. sp. (from Natuna). Geosesarma hashimin. sp. is an arboreal species with a suite of atypical characters that suggest its present classification in Geosesarma needs to be reassessed.
Late dumping syndrome preceded by Coxsackievirus B4 infection and cholecystectomy
Authors: Weiss Joshua , Fewel Connor , Akinrinade Oyediran , Harrington Jane 
Published: April 2023

Abstract
A 44-year-old female patient presented with weight loss, diarrhea and intermittent episodes of left upper quadrant (LUQ) pain lasting for 3 years, accompanied by acute episodes of focal LUQ pain, dizziness, tachycardia, borborygmi and bloating, occurring approximately 60 min after meals. The patient developed chronic acalculous cholecystitis and transient exocrine pancreatic insufficiency after infection with Coxsackievirus B4 (CVB4), which resolved following laparoscopic cholecystectomy 2 years before the current presentation. Although imaging and functional investigation studies were unremarkable, a gastric transit study revealed rapid clearance of radiolabeled food, and the patient’s symptomatology and gastrointestinal studies supported the diagnosis of late dumping syndrome. The patient’s symptoms significantly improved with adherence to recommended dietary changes, including an increase in protein intake, abstinence from simple carbohydrates and avoidance of simultaneous consumption of beverages with food, following consultation with a dietitian.