bluuebunny/crossref_metadata_2025 huggingface dataset:
DRdriver: identifying drug resistance driver genes using individual-specific gene regulatory network
Authors: Huang Yu-e , Zhou Shunheng , Liu Haizhou , Zhou Xu , Yuan Mengqin , Hou Fei , Chen Sina , Chen Jiahao , Wang Lihong , Jiang Wei
Published: March 2023

Drug resistance is one of principal limiting factors for cancer treatment. Several mechanisms, especially mutation, have been validated to implicate in drug resistance. In addition, drug resistance is heterogeneous, which makes an urgent need to explore the personalized driver genes of drug resistance. Here, we proposed an approach DRdriver to identify drug resistance driver genes in individual-specific network of resistant patients. First, we identified the differential mutations for each resistant patient. Next, the individual-specific network, which included the genes with differential mutations and their targets, was constructed. Then, the genetic algorithm was utilized to identify the drug resistance driver genes, which regulated the most differentially expressed genes and the least non-differentially expressed genes. In total, we identified 1202 drug resistance driver genes for 8 cancer types and 10 drugs. We also demonstrated that the identified driver genes were mutated more frequently than other genes and tended to be associated with the development of cancer and drug resistance. Based on the mutational signatures of all driver genes and enriched pathways of driver genes in brain lower grade glioma treated by temozolomide, the drug resistance subtypes were identified. Additionally, the subtypes showed great diversity in epithelial–mesenchyme transition, DNA damage repair and tumor mutation burden. In summary, this study developed a method DRdriver for identifying personalized drug resistance driver genes, which provides a framework for unlocking the molecular mechanism and heterogeneity of drug resistance.
Linear: a framework to enable existing software to resolve structural variants in long reads with flexible and efficient alignment-free statistical models
Authors: Pan Chenxu , Rahn René , Heller David , Reinert Knut
Published: March 2023

Alignment is the cornerstone of many long-read pipelines and plays an essential role in resolving structural variants (SVs). However, forced alignments of SVs embedded in long reads, inflexibility of integrating novel SVs models and computational inefficiency remain problems. Here, we investigate the feasibility of resolving long-read SVs with alignment-free algorithms. We ask: (1) Is it possible to resolve long-read SVs with alignment-free approaches? and (2) Does it provide an advantage over existing approaches? To this end, we implemented the framework named Linear, which can flexibly integrate alignment-free algorithms such as the generative model for long-read SV detection. Furthermore, Linear addresses the problem of compatibility of alignment-free approaches with existing software. It takes as input long reads and outputs standardized results existing software can directly process. We conducted large-scale assessments in this work and the results show that the sensitivity, and flexibility of Linear outperform alignment-based pipelines. Moreover, the computational efficiency is orders of magnitude faster.
GPTree Cluster: phylogenetic tree cluster generator in the context of supertree inference
Authors: Koshkarov Aleksandr , Tahiri Nadia
Published: March 2023

For many years, evolutionary and molecular biologists have been working with phylogenetic supertrees, which are oriented acyclic graph structures. In the standard approaches, supertrees are obtained by concatenating a set of phylogenetic trees defined on different but overlapping sets of taxa (i.e. species). More recent approaches propose alternative solutions for supertree inference. The testing of new metrics for comparing supertrees and adapting clustering algorithms to overlapping phylogenetic trees with different numbers of leaves requires large amounts of data. In this context, designing a new approach and developing a computer program to generate phylogenetic tree clusters with different numbers of overlapping leaves are key elements to advance research on phylogenetic supertrees and evolution. The main objective of the project is to propose a new approach to simulate clusters of phylogenetic trees defined on different, but mutually overlapping, sets of taxa, with biological events. The proposed generator can be used to generate a certain number of clusters of phylogenetic trees in Newick format with a variable number of leaves and with a defined level of overlap between trees in clusters.

Availability and implementation

A Python script version 3.7, called GPTree Cluster, which implements the discussed approach, is freely available at: https://github.com/tahiri-lab/GPTree/tree/GPTreeCluster
Semiparametric counterfactual density estimation
Authors: Kennedy E H , Balakrishnan S , Wasserman L A
Published: March 2023

Causal effects are often characterized with averages, which can give an incomplete picture of the underlying counterfactual distributions. Here we consider estimating the entire counterfactual density and generic functionals thereof. We focus on two kinds of target parameters: density approximations and the distance between counterfactual densities. We study nonparametric efficiency bounds, giving results for smooth but otherwise generic models and distances. Importantly, we show how these bounds connect to means of particular nontrivial functions of counterfactuals, linking the problems of density and mean estimation. We propose doubly robust-style estimators, and study their rates of convergence, showing that they can be optimally efficient in large nonparametric models. We also give analogous methods for model selection and aggregation, when many models may be available and of interest. Our results all hold for generic models and distances, but we highlight results for L2 projections on linear models and Kullbach–Leibler projections on exponential families. Finally, we illustrate our method by estimating the density of the CD4 count among patients with HIV, had all been treated with combination therapy versus zidovudine alone, as well as a density effect. Our methods are implemented in the R package npcausal on GitHub.
Morphological factors associated with progression of subaneurysmal aortas
Authors: Thorbjørnsen Knut , Svensjö Sverker , Mani Kevin , Wanhainen Anders
Published: March 2023

Background

The aim of this population-based cohort study was to assess the association between aortic morphological baseline factors in 65-year-old men with subaneurysmal aortic diameter (25–29 mm) and risk of later progression to abdominal aortic aneurysm (AAA) generally considered to be at a diameter for repair (at least 55 mm).

Methods

Men with a screening-detected subaneurysmal aorta between 2006 and 2015 in mid-Sweden were re-examined using ultrasonography after 5 and 10 years. Cut-off values for baseline subaneurysmal aortic diameter, aortic size index, aortic height index, and relative aortic diameter (with respect to proximal aorta) were analysed using receiver operating characteristic (ROC) curves, and their associations with progression to AAA diameter at least 55 mm evaluated by means of Kaplan–Meier curves and a multivariable Cox proportional hazard analysis adjusted for traditional risk factors.

Results

Some 941 men with a subaneurysmal aorta and median follow-up of 6.6 years were identified. The cumulative incidence of AAA diameter at least 55 mm at 10.5 years was 28.5 per cent for an aortic size index of 13.0 mm/m2 or more (representing 45.2 per cent of the population) versus 1.1 per cent for an aortic size index of less than 13.0 mm/m2 (HR 9.1, 95 per cent c.i. 3.62 to 22.85); 25.8 per cent for an aortic height index of at least 14.6 mm/m (58.0 per cent of the population) versus 2.0 per cent for an aortic height index of less than 14.6 mm/m (HR 5.2, 2.23 to 12.12); and 20.7 per cent for subaneurysmal aortic diameter 26 mm or greater (73.6 per cent of the population) versus 1.0 per cent for a diameter of less than 26 mm (HR 5.9, 1.84 to 18.95). Relative aortic diameter quotient (HR 1.2, 0.54 to 2.63) and difference (HR 1.3, 0.57 to 3.12) showed no association with development of AAA of 55 mm or greater.

Conclusion

Baseline subaneurysmal aortic diameter, aortic size index, and aortic height index were all independently associated with progression to AAA at least 55 mm, with aortic size index as the strongest predictor, whereas relative aortic diameter was not. These morphological factors may be considered for stratification of follow-up at initial screening.
Genetic variables, population features and reproductive success ofGymnocalycium monvillei(Cactaceae) along an altitudinal gradient
Authors: Bauk Karen , Gurvich Diego E , Liber Zlatko , Šatović Zlatko , Las Peñas M Laura
Published: March 2023

Altitudinal gradients in mountain environments impose selection pressures that could result in marked heterogeneity in genetic characteristics, population features and reproductive success. Most Cactaceae occur in arid and semi-arid areas of the American continent, from sea level to 4500 m a.s.l., and some species have wide altitudinal ranges. The aim of this work was to analyse how cytogenetic features (mitotic chromosomes analysed using molecular cytogenetic techniques, DNA content estimated by flow cytometry), amplified fragment length polymorphism genetic diversity, population features (population density and individual size) and reproductive success (seeds per plant and fruit production) are related to an altitudinal gradient in five sites of Gymnocalycium monvillei located between 878 and 2230 m a.s.l. Our results showed that the sites at three intermediate altitude have optimal conditions as greatest genetic diversity, highest population density and highest seed production, whereas extreme sites are characterized by greatest reproductive isolation and highest DNA content and seed mass. The results indicate that the species has various mechanisms to survive along altitudinal gradients.
Single-cell transcriptome analysis reveals endometrial immune microenvironment in minimal/mild endometriosis
Authors: Huang Xin , Wu Lukanxuan , Pei Tianjiao , Liu Dong , Liu Chang , Luo Bin , Xiao Li , Li Yujing , Wang Ruiying , Ouyang Yunwei , Zhu Huili , Huang Wei
Published: March 2023

Endometriosis is a common inflammatory disorder in women of reproductive age due to an abnormal endometrial immune environment and is associated with infertility. This study aimed to systematically understand the endometrial leukocyte types, inflammatory environment, and impaired receptivity at single-cell resolution. We profiled single-cell RNA transcriptomes of 138 057 endometrial cells from endometriosis patients (n = 6) and control (n = 7), respectively, using 10x Genomics platform. We found that one cluster of epithelial cells that expressed PAEP and CXCL14 was mostly from the control during the window of implantation (WOI). This epithelial cell type is absent in the eutopic endometrium during the secretory phase. The proportion of endometrial immune cells decreased in the secretory phase in the control group, whereas the cycle variation of total immune cells, NK cells, and T cells was absent in endometriosis. Endometrial immune cells secreted more IL-10 in the secretory phase than in the proliferative phase in the control group; the opposite trend was observed in endometriosis. Proinflammatory cytokines levels in the endometrial immune cells were higher in endometriosis than in the control group. Trajectory analysis revealed that the secretory phase epithelial cells decreased in endometriosis. Ligand–receptor analysis revealed that 11 ligand–receptor pairs were upregulated between endometrial immune and epithelial cells during WOI. These results provide new insights into the endometrial immune microenvironment and impaired endometrial receptivity in infertile women with minimal/mild endometriosis.
Left ventricular pseudoaneurysm in Lemierre’s syndrome: a case report
Authors: Gall Alexander , Sandhu Manraj Singh , Ahmed Eltayeb Mohamed , McAloon Christopher James
Published: March 2023

Background

Lemierre’s syndrome is an infectious phenomenon characterized by oropharyngeal infection with bacteraemia, thrombophlebitis, and distant septic emboli. Septic emboli are a recognized cause of a Type 2 myocardial infarction, with a left ventricular pseudoaneurysm being a rare but important complication of this.

Case summary

A 19-year-old male presented with acute confusion, fevers, and a cough. Blood cultures were positive for Fusobacterium necrophorum and initial imaging showed a cavitating pneumonia. Further evaluation revealed septic emboli in the distal digits and brain. The patient initially responded to antibiotic therapy but developed chest pain with increased troponin levels. An electrocardiogram showed inferolateral ST elevation. A transthoracic echocardiogram (TTE) showed hypokinaesia of the mid to apical lateral wall, and a computed tomography (CT) scan showed a pericardial effusion with a possible purulent effusion or abscess. The patient underwent surgical drainage of a sterile effusion. A post-operative TTE and CT demonstrated a left ventricular pseudoaneurysm that was surgically repaired. The venous thrombus was encountered intra-operatively confirming a diagnosis of Lemierre’s syndrome. The patient completed the regimen of antibiotics and showed a good post-operative recovery.

Discussion

This is the first case described of left ventricular pseudoaneurysm as a complication of Lemierre’s syndrome. It highlights not only the importance of serial, multimodality imaging in both diagnostic workup and identification of complications, but also the importance of a multidisciplinary team in the management of patients with complex and rare presentations.
Modern tools in cardiac imaging to assess myocardial inflammation and infection
Authors: Hutt Erika , Kaur Simrat , Jaber Wael A
Published: March 2023

Myocardial forms of infection and inflammation are highly heterogeneous in clinical course and presentation but associated with diagnostic and treatment uncertainty, high morbidity, mortality, and financial burden. Historically, these pathologies were diagnosed invasively with biopsy, surgical pathology, or explanted hearts. However, in the current era, the diagnosis has been aided by a variety of non-invasive imaging tools in the appropriate clinical presentation. This review provides a comprehensive understanding of the available imaging modalities for guiding the diagnosis, treatment, and prognosis of cardiac infection and inflammation.
Malocclusions, pathologic tooth migration, and the need for orthodontic treatment in subjects with stage III–IV periodontitis. A cross-sectional study
Authors: Zasčiurinskienė Eglė , Rastokaitė Liveta , Lindsten Rune , Basevičienė Nomeda , Šidlauskas Antanas
Published: March 2023

Background

Literature is scarce on malocclusion prevalence and orthodontic treatment need (OTN) in subjects with stage III–IV periodontitis. Study aims were to assess prevalence of primary and secondary malocclusions in subjects with stage III–IV periodontitis and OTN based on pathologic tooth migration (PTM) and occlusal trauma of anterior teeth (AT).

Subjects and methods

One hundred and twenty-one subjects with stage III–IV periodontitis were examined. A comprehensive periodontal–orthodontic examination was performed. Exclusion criteria: age <30 years, removable prosthetics, uncontrolled diabetes, pregnancy/lactation, and oncologic disease.

Results

Class II malocclusion was found in 49.6% (Class II div 1—20.7%, Class II div 2—9.9%, subdivision Class II—19.0%), Class I—31.4%, Class III—10.7%, no malocclusion—8.3% of subjects. PTM was observed in 74.4% of maxillary and 60.3% of mandibular AT. Spacing and extrusion were the main types of PTM of AT. Odds ratio for PTM of maxillary AT was 9.3 in cases with >30% of sites with clinical attachment loss ≥5 mm (P = 0.001). Spacing of maxillary AT was influenced by periodontitis, Class III malocclusion, and lost teeth. Tongue habit had impact on spacing of mandibular AT. Dental Health Component of Index of Orthodontic Treatment Need yielded that OTN was found in >50% and OTN due PTM, occlusal trauma and impaired function in 66.1% of subjects.

Conclusions

The most prevalent malocclusion was Class II. Spacing and extrusion were prevalent types of PTM of AT. OTN was found in more than half of the subjects. The study highlights the need for preventive measures for PTM in subjects with stage III–IV periodontitis.
Student ICT resources and intergenerational transmission of educational inequality: testing implications of a reproduction and mobility perspective
Authors: Loh Renae Sze Ming , Kraaykamp Gerbert , van Hek Margriet
Published: March 2023

Information and communication technology (ICT) is often heralded to boost student learning. In this paper, we investigate the supposed benefits of ICT on student educational performance by considering the varied forms of ICT resources – access, skills, efficacy and different usage practices. We also examine the relationship between parental background, ICT and educational performance, employing notions from social reproduction and mobility theory, thereby investigating its role in processes of intergenerational transmission of educational inequality. Using PISA 2018 data, we examine 123,006 students’ performance in Math and Reading. Results from fixed effects models indicate that ICT resources have a generic benefit to student learning, and mostly function as means to social reproduction. Our results indicate that having more ICT access and ICT skills seem to be most beneficial for students from advantageous family backgrounds, whereas using ICT for gaming seems most detrimental for high-SES students.
C5. Acute limb ischemia in COVID-19 patient: a case report
Authors: Kristianti S , Lizarda A
Published: March 2023

Background

Spread of coronavirus has led to the coronavirus disease (COVID-19) pandemic and resulting in new challenges. COVID-19 can cause thrombotic complications such as acute limb ischemia (ALI). This complication may increase the risk of morbidity and mortality in COVID-19 patient. A high index of suspicion should be maintained for ALI in COVID-19 patient, which is a vascular emergency.

Case Description

A-53 year old male presented to the emergency department with acute left leg pain and shortness of breath since two days before admission. Physical examination revealed heart rate of 120x/min, blood pressure 130/100 mmHg, and oxygen saturation 96%. The patient had bilateral crackles on lung auscultation and absent left dorsalis pedis pulse. His left foot was discoloured, cold to the touch, and mottled in appearance. He had elevated D-dimer. Chest x-ray showed bilateral hazy infiltrates. COVID-19 was diagnosed on the basis of RT-PCR testing. He received antibiotic, antiviral, and enoxaparin. Unfortunately, he underwent amputation procedure.

Discussion

COVID-19 has been associated with systemic effects resulting in cardiovascular, hematologic, neurologic, immunologic, and renal complications. Arterial thrombosis is an important consideration in COVID-19 patient associated with systemic inflammatory response, hypercoagulable states, and endothelial injury. ALI can occur during in-hospital evolution of COVID-19 infection or they can be admitted to the hospital for this vascular condition with mild or no respiratory symptoms. Some patients are able to achieve revascularization with observation or medical and/or surgical intervention, but other patients succumb to either amputation or death.
C7. Air Traveling – Related Acute Decompensated Heart Failure, The Nightmare Begin in The Sky: A Case Report
Authors: Abdul G , Akhtar F M
Published: March 2023

Background

Patients with heart failure are prone to experience problem contributed air travel. The major cardiovascular problem with aviation is mainly as a result of dropping air pressure. During flight the cabin pressure will drop and be maintained at 8000 ft, bringing oxygen levels down to 15%.

Case Summary

A 50 yo woman presented with diaphoresis, acute worsening of dyspnea, and hypoperfused after air travel. In the first 10-15 minutes of 1-hour flying, she felt tachycardic and becoming increasingly short of breath that doesn’t relieve after debarking off. The previous history included chronic heart failure due to severe mitral regurgitation and hypertension. Echocardiography study revealed severe mitral regurgitation due to prolapse AML and dilated LA with preserved ejection fraction. Initial management with dobutamine and norepinephrine and then furosemide improved her clinical status. The patient was discharged with planning for surgical correction for mitral regurgitation.

Discussion

The presentation of signs and symptoms denote clinical conditions termed acute decompensated heart failure wet and cold type. The onset of symptoms revealed that this situation related to air traveling. Drop in air pressure and oxygen levels that occur at the cabin during flight make physiological and psychological stress, hypoxia, and raised sympathetic tone. In the patient with preexisting chronic heart failure, these responses will lead to clinical decompensation and deterioration.
C8. An Extremely Rare Case: Cardiac Contusion Presenting with an Atrioventricular Block, An Unfortunate Fall
Authors: Akbar R R , Nugraha M T
Published: March 2023

Background

Blunt cardiac injury (BCI), also referred to cardiac contusion, is a known cause of myocardial injury. It is often challenging to diagnose in the absence of clear diagnostic criteria. The clinical manifestation ranges from none to fatal arrhythmias to cardiac wall rupture seen on post-mortem examination. Cardiac biomarkers and electrocardiograms are usually helpful in identifying cardiac trauma but are not necessarily abnormal in all cases.

Case Illustration

A 55-year-old male with no history of cardiac disease was brought to the emergency department after a motor vehicle collision resulted in chest wall injury. The patient was found to have left clavicle fracture, left costae II-VII fractures, and hematothorax followed by chest tube insertion. The patient had multiple episodes of complete heart block with junctional escape rhythm alternate with high degree 2:1 AV conduction, and sometimes became a normal sinus rhythm. A temporary pacemaker was inserted. After the patient underwent the ORIF procedure, cardiac rhythm revealed normal sinus rhythm and temporary pacemaker is removed.

Discussion

High-degree AV block has been reported in human studies following BCI, secondary to necrosis, inflammation, or fibrotic changes in the subendocardial tissue. 50% of patients reviewed in the literature had a recurrence or permanent complete heart block requiring pacemaker implantation and complete heart block secondary to BCI which was associated with a 20% mortality in the post-traumatic period. Our patient developed a fatal heart block in the early period which could have easily been missed.
C10. An ultra-rare case of Hutchinson–Gilford progeria syndrome with severe aortic regurgitation due to bicuspid aortic valve in a 9-year-old girl
Authors: Rasaki R , Novita  , Heriansyah T
Published: March 2023

Background

Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare autosomal dominant that result in progressive premature aging syndrome. Cardiovascular diseases become the main cause of mortality including myocardial infarction, interstitial myocardial fibrosis, hypertension and calcification of the mitral and aortic valves. However, the relationship between HGPS and bicuspid aortic valve (BAV) has not been documented yet.

Case Summary

A 9-year-old girl with HGPS presented to the outpatient clinic with a complaint of shortness of breath since 5 years ago, especially when she did moderate physical activity. Chest pain and palpitation were denied. Her physical examination revealed short stature, thin, wrinkled skin, craniofacial disproportion with alopecia, shrunken facies and prominent scalp veins. There was failure to thrive and diastolic murmur grade 2/4 is heard on the aortic area. Laboratory test showed leukocytosis. Transthoracic echocardiogram showed severe aortic regurgitation due to calcified bicuspid aortic valve and mild mitral regurgitation. She was managed by conservative therapy because her parents were still considering the aortic valve repair procedure.

Discussion

The HGPS patient with severe aortic regurgitation due to BAV should be managed to reduce cardiovascular complications. Aortic valve repair is an interesting alternative to replacement managing aortic regurgitation due to BAV in young adults. Recently, advanced science about BAV disease and refinement of surgical techniques improved standardization of BAV repair procedure.
C11. Aorto-Pulmonary Window in Tetralogy of Fallot with Absent Pulmonary Valve Syndrome : A Rare Case Report
Authors: Suryawan Willy , Sakidjan Indriwanto
Published: March 2023

Background

Aorto-pulmonary window and Tetralogy of Fallot with absent pulmonary valve syndrome (TOF-APVS) are very rare entities. The combination of the two defects in adolescence patient made the diagnosis based on standard imaging modalities challenging.

Case Illustration

14-year-old boy was referred from Borneo Hospital with failure to thrive and shortness of breath symptoms. He was underwent multiple modalities procedure and it shows the presences of features of tetralogy of Fallot : right ventricular hypertrophy, sub-aortic ventricular septal defect and pulmonary infundibular stenosis. Pulmonary valve leaflets are not seen with mild dilatation of the main and left pulmonary artery (Absent PV syndrome) and a connection from Pulmonary Artery and Ascending Aorta (Aorta-Pulmonary Window)

Discussion

TOF-APVS is a relatively rare variant of TOF. Its co-existence with Aorto-Pulmonary Window make this case was very exceptional. There are only a few reported cases diagnosed with TOF-APVS in adult age in the literature as most of them are diagnosed at younger ages. The unique physiology due to the large connection of Ascending aorta and the main pulmonary artery resulting in L-R Shunt. The large connection from Ascending Aorta to Main Pulmonary artery (L-R Shunt) prompt this patient to pulmonary hypertension (before and after surgery) and heart failure, hence initial treatment of ACE-I and sildenafil was very necessary.
C13. Atropine Challenge: Bedside Diagnosis of Block Level
Authors: Akbar R R , Wasyanto T
Published: March 2023

Background

The concept of 2:1 AV block remains poorly understood by many physicians even after so many years of advancement in the field of electrophysiology. It cannot be classified into type I or type II second-degree AV block because there is only one PR interval to examine before the blocked P wave.

Case Illustration

Case 1 . A 78-year-old male with asymptomatic bradycardia was referred to our hospital. Resting ECG revealed 2:1 conduction AV block. In order to define the site of block we performed the atropine challenge test, revealed improvement of AV block to Mobitz I and then 1st degree AV block, suggesting the suprahissian block. Case 2. A 74-year-old male with inferoposterior and right ventricular STEMI was referred to our hospital. His resting ECG revealed 2:1 conduction of P wave. The atropine challenge test revealed improvement of block to 1st degree AV block, suggesting the suprahissian block.

Discussion

It is often difficult to distinguish intranodal and infranodal blocks when 2:1 conduction is present. Therefore, a careful search of a long ECG tracing for two consecutive P waves should be made. In addition, atropine can improve AV node conduction due to sympathetic and/or parasympatholytic stimulation. Therefore, it may increase AV node conduction but worsen infranodal block without affecting the refractory period of the infranodal. This case illustrates the importance of a noninvasive test for confirming the location of a 2:1 conduction AV block, as guide to diagnostic and therapeutic determinations.
C14. Benefit and Safety of Cardiac Rehabilitation Program in Pulmonary Hypertension Patient after Atrial Septal Defect Closure with Fenestration
Authors: Etami H V , Anggrahini D W , Arso I A
Published: March 2023

Background

ASD closure with surgical fenestration is purposed to reduce pulmonary hypertension (PH) crisis. PH is still found in patient conducting this procedure. Some issues told that PH patient should restrict activities due to complaints aggravation. Proper cardiac rehabilitation gives clinical improvements and safe for stable PH patient.

Case summary

A 20-year-old male, diagnosed as left to right shunt ASD with pulmonary hypertension (mPAP 41 mmHg, PVRI 4.86, and Qp/Qs 1.62), was conducted surgical closure with fenestration. Patient was given cardiac rehabilitation program from 6-minute walking test result. It was done twice a week for 1 month after surgery by walking on treadmill for 600 meters in 30 minutes and was increased 100 meters per meeting, the heart rate target was 107 – 125 beats per minute. The program evaluation by treadmill test on the last session showed increase of fitness capacity (9.33 METs from 2.34 METs) and decrease of symptoms. There was no incident during exercise. Education were given for PH evaluation and healthy lifestyle.

Discussion

Cardiac rehabilitation program was emphasized for PH management. Continuous and moderate intensity exercise is recommended than high intensity exercise. The cardiac rehabilitation program showed improvement of physical capacity, quality of life, and reduction of NT pro BNP by increasing peak oxygen uptake, anaerob threshold, pulmonary perfusion, muscle function and decreasing inflammatory response, oxidative stress, smooth muscle cell proliferation. It is save for stable PH patient under healthcare supervision.
C18. Cardiac AA amyloidosis presenting with refractory heart failure complicated by polymorphic ventricular tachycardia: a case report
Authors: Susanti M , Subagjo A
Published: March 2023

Background

Systemic AA amyloidosis is a rare infiltrative disease representing a complication of chronic inflammatory disorders. Cardiac involvement is rare and is associated with a poor prognosis. Early recognition is imperative as appropriate measures, and treatment of the underlying disease may prevent death from refractory heart failure and fatal arrhythmias.

Case Summary

A 53-years-old male patient with psoriatic arthritis presented with heart failure and nephrotic syndrome. Electrocardiogram revealed first-degree AV block, low voltage QRS complexes, and prolonged QT interval. On echocardiography, a normal systolic function of hypertrophic left ventricle with signs of diastolic dysfunction was present. An abdominal fat pad punch biopsy was able to confirm amyloid deposition. Self-terminated polymorphic ventricular arrhythmia was recorded by 24-hour Holter. Immunosuppressive, anti-inflammatory, anti-arrhythmic, and heart failure agent were promptly instituted, which are ineffective.

Discussion

Restrictive cardiomyopathy is the hallmark finding in cardiac amyloidosis that caused by the interstitial deposits of amyloid fibrils. Clinically, this manifests in progressive diastolic dysfunction, elevated left ventricular filling pressures, and heart failure with preserved ejection. The presence of rapidly progressed heart and renal failure with characteristic features of ECG should prompt further evaluation to confirm an infiltrative cardiomyopathy. This is highly suggestive that the natural course of cardiac amyloidosis often unpredictable and can be aggressive if left undiagnosed and untreated.
C19. Cardiac Amyloidosis: A Great Pretender of Left Ventricular Hypertrophy with Systemic Manifestation
Authors: Tampi G G , Farissa I P , Nugroho M A , Dewi R A C K , Pangarsa E A , Hellmi R Y , Rahardjo S B , Puspasari D
Published: March 2023

Background

Systemic amyloidosis encompasses an underdiagnosed disorder characterized by the extracellular deposition of amyloid in one or more organs, including the heart. The therapeutic strategy depends on the characterization of amyloid protein type and the extent of the disease. When founding a pathological left ventricular hypertrophy, initial clues provided by electrocardiography and echocardiography combined with other clinical manifestations could support a suspicion of cardiac amyloidosis.

Case Summary

A 54-year-old male patient was repeatedly admitted to a local hospital for recurrent heart failure and refractory bilateral pleural effusions of unknown cause. There was intolerance of any heart failure medications and repeated thoracocentesis failed to control the pleural effusion. The echocardiogram revealed severely impaired left ventricular function with phenotypic overlap between hypertrophic and restrictive cardiomyopathy. In contrast, we found a low voltage electrocardiogram. After an extensive diagnostic workup, including speckle tracking echocardiography, cardiac magnetic resonance, serum immunofixation and free light chain, bone marrow biopsy, and also Congo Red staining for amyloid, the final diagnosis was light chain (AL) amyloidosis.

Discussion

Cardiac involvement in systemic amyloidosis is the leading cause of morbidity and mortality. Frequently, myocardial wall thickening is incorrectly referred to as hypertrophy which may potentially lead to the wrong diagnosis and therapy. However, a need remains for improved awareness and expertise, while a multidisciplinary approach is important in making the correct diagnosis and management of this debilitating disease.
C20. Cardiac Arrest in COVID-19 Patient Presenting with Takotsubo Cardiomyopathy
Authors: Wardhani Louisa Fadjri Kusuma , Suwanto Denny , Sativa Oryza , Lefi Achmad
Published: March 2023

Background

Takotsubo cardiomyopathy (TC) presents as a result of catecholamine surge. There are increase of TC among COVID-19 patients, which is induced by cytokine storm. TC is previously known as a self-limiting and benign cardiac manifestation, but it has been uncovered that TC can be associated with fatal cardiac outcome due to cardiogenic shock and life-threatening arrhythmia.

Clinical Presentation

A 54-year-old woman presented to the emergency department with a fever since 9 days before admission accompanied by DOE, PND, and fatigue that worsened since 5 days before admission. Fifteen days before her complaints, she experience bereavement from his son death from motorcycle accident. She was referred from regional hospitals due to respiratory failure necessitating ventilator support. Physical examination revealed normal blood pressure and desaturation. ECG shows tachycardia with global ST-elevation. CXR shows cardiomegaly (CTR 62%) and pneumonia. The laboratory demonstrated increased Neutrophil to Lymphocyte Ratio (NLR), C-Reactive Protein, Troponin, and positive PCR COVID-19 swab. An echocardiography presented regional wall motion abnormality with apical ballooning appearance and reduced systolic function with LVEF of 51% resembling Takutsubo cardiomyopathy. Despite maximal ventilatory and pharmacology, she experienced malignant ventricular tachycardia not responding to defibrillation and expired in only 6 hours

Discussion

The presence of cardiac arrhythmia followed by cardiac arrest in COVID-19 patient complicated by TC can be a direct effect of catecholamine surge and myocardial injury or indirect effect from QT-prolongation and inflammatory process. Concurrent COVID-19 pneumonia and TC may progress with dismal prognosis, so that in need of prompt referral system.
C21. Cardiac Complications in Immunocompromised Patient : A Case Report
Authors: Hanafiah R , Candra V F K
Published: March 2023

Background

Cardiovascular diseases in human immunodeficiency virus (HIV)-positive patients are becoming increasingly detected in developing countries. Pericardial involvement may be manifested as acute pericarditis, constrictive pericarditis, symptomatic pericardial effusion and cardiac tamponade. The aim of this report is to present a patient with AIDS clinical stage IV who developed pericarditis and pericardial effusion.

Case Summary

A 27-year-old male came to our ER with 7-day fever and delirium syndrome. He has been diagnosed with AIDS clinical stage IV for the past 3 years with the latest CD4 count was 6/mm3. Serial Transthoracic Echocardiography (TTE) revealed small to moderate circumferential pericardial effusion, thickening of pericardium and reduced left ventricular ejection fraction without signs of cardiac tamponade from TTE. Upon hospitalization, he developed signs of hypotension without distended jugular veins nor muffled heart sounds. It was decided to initiate supportive treatment and NSAIDs without pericardiocentesis. The patient recovered uneventfully. As an outpatient, no other cardiovascular complications developed.

Discussion

Pericardial conditions are the most frequent cause of heart disease in patient with HIV infection. Most cases are mild and asymptomatic. Pericardial effusion may be marker of end-stage HIV infection because it is associated with low CD4 cell count and is often caused by opportunistic infections and malignant neoplasms. Treatment of pericarditis in HIV patients is no different from that in general population. Asymptomatic patients with small pericardial effusion without tamponade require no intervention.
C22. Cardiac Morphology in Congenital Heart Disease with 3D Modeling, 3D Printing and Augmented Reality Smartphone Application: a Case Series of Cardiac Computed Tomography Assessment of Right Ventricular Outflow Tract Obstruction with Shunt
Authors: Laode M , Nurawita R , Andi A U , Julius P , Nikmatiah L
Published: March 2023

BACKGROUND

Obstruction of the right ventricular outlet may include stenosis of the Right Ventricular Outflow Tract (RVOT) or the presence of atresia in the valve or pulmonary artery. The Cardiac Computed Tomography (CCT) examination for RVOT obstruction with a shunt has several indications, including pulmonary and coronary artery assessment, and lesions accompanying RVOT obstruction with a shunt.

CASE DESCRIPTION

In this report, we present five cases with RVOT obstruction with shunts in the form of Tetralogy of Fallot (ToF), pulmonary atresia with Ventricle Septal Defect (VSD), and pulmonary stenosis with Double Outlet Right Ventricle (DORV). The first patient with ToF and infective endocarditis. The second patient with atypical ToF, cardiac dextroposition, and suspect Scimitar Syndrome. The third patient with pulmonary atresia, VSD, and post-R-BT shunt. The fourth patient with pulmonary stenosis, DORV, remote VSD, post-BT shunt, and suspect Criss Cross Heart. The fifth patient with pulmonary stenosis, DORV, RA isomerism, malposition of the great artery, bilateral SVC, and dextrocardia.

DISCUSSION

The CCT assessment can be carried out in a segmental sequential to systematically and comprehensively approach. For complex lesions, CCT provides 3D printing of the heart and may help to understand the cardiac morphology easily. CCT is a recommended examination for RVOT obstruction with shunt, shows a good sensitivity for assessing BT-shunt, and provides good spatial resolution for assessing the pulmonary and coronary arteries. 3D printing and augmented reality can improve practitioners' understanding of RVOT obstruction with shunt, including the accompanying lesions.
C24. Cardioembolic Stroke due to LV Thrombus : Very High Risk NSTEMI Complication
Authors: Valdy Gerry , Syafri Masrul , Syukri M
Published: March 2023

Background

Ischemic heart disease is the major cause to the high mortality rate. Ischemic heart disease was responsible for 7 million of the 53 million deaths reported in 2010. Left ventricle thrombus that complicates acute myocardial infarction (AMI) is a major cause of cardioembolic stroke.

Case Summary

A 69-year-old man presented with typical of infarction chest pain and shortness of breath since 2 days before admission to the hospital. The patient was diagnosed with NSTEMI TIMI 4/7 GS 177, PVC Frequent and history of VT and was planned for immediate PCI. After cannulation in the left coronary artery, the patient developed VT/VF and therefore CPR was performed. The patient was in ROSC then admitted to the CVCU and had improved. After two days of treatment, the patient experienced weakness in right limbs and difficulty of speaking, followed by decreased consciousness and suspected with ischemic stroke. The patient was then immediately treated for cardioembolic stroke. After 1 day of treatment the patient got worsened and was declared dead.

Discussion

Based on NSTEMI startification, patients was included in very high risk with a major cardiovascular event rate of 40.9%. During the treatment, patients experiencing cardioembolic stroke which causes increased mortality. Management of cardioembolic stroke as soon as possible increases the chances of success in therapy
C25. Cardiogenic shock in a 25-year-old male with tombstone ST-segment elevation pattern in emergency department, early hemodynamic assessment to guide the management: a case report of mixed cardiogenic shock phenotype
Authors: Tiyantara M S , Furqon M
Published: March 2023

Background

Cardiogenic shock (CS) is a lethal condition. There are several phenotypes, and classification based hemodynamic and/or clinical parameters for CS. We present CS with tombstone ST-segment elevation in emergency department (ED) with assessment of hemodynamic using bedside ultrasound to classify and guide the management.

Case Description

A 25-year-old-male complained sense of fatigue, fever, and myalgia for 2 days. The initial blood pressure and SpO2 were unrecordable, heart rate 112x/m, respiration rate 28x/m, temperature 36.8 °C. The patient was pale, anxious, with difficult jugular venous pressure assessment due to overweight appearance, diminished S1, and cold extremity. Electrocardiogram revealed tombstone ST-elevation in V2-V6, I, and aVL. After oxygenation management, initial dobutamine and norepinephrine, we performed bedside cardiac ultrasound revealed anterior left ventricular wall hypokinesis, mild pericardial effusion, ejection fraction 52%, mitral E/A ratio 2.7, E deceleration time 90.82ms, positive lung B-lines, inferior vena cava diameter 2.14cm with collapsibility <50%. Tricuspid annular plane systolic excursion 19mm. Estimated cardiac index 1.88L/m/cm2, and systemic vascular resistance (SVR) 775dynes.sec/cm5. This pattern suggests mixed CS phenotype. Vasopressor was up titrated with improved blood pressure, SpO2, and urinary output. CXR revealed cardiomegaly, troponin T > 10.000pg/ml. The patient was successfully stabilized in ED and transferred to ICCU.

Discussion

We classify our case as mixed CS. With hemodynamic assessment, we can determine the character of the shock with more objective parameters, guide the treatment, and avoiding over (increase oxygen demand, afterload, arrhythmia) and underused of vasopressor to bridging the treatment of causative factor.
C26. Case report: COVID-19 associated Takotsubo cardiomyopathy
Authors: Mulia E P B , Dewi I P , Subagjo A , Pikir B S
Published: March 2023

Background

COVID-19 infection can lead to several cardiovascular sequelae, including Takotsubo cardiomyopathy (TCM), which may portend worse clinical outcomes.

Case Description

A 56-years-old woman with history of hypertension presented to the emergency room for dyspnea and gradual decrease of consciousness for seven days. She was positive for COVID-19 and transferred to intensive care unit to receive mechanical ventilation due to respiratory failure. Electrocardiogram showed pathological Q wave and ST elevation in inferior and anterior. Troponin I was mildly elevated (5.52 ng/ml). Inflammatory marker CRP and procalcitonin were increased (3.6 mg/dl and 0.235 ng/ml, respectively). Serum cortisol level was 525.8 ng/ml. Echocardiography showed reduced left ventricular ejection fraction (LVEF 41%), with severe hypokinetic of the apical segments and preserved basal myocardial function consistent with visual signs of apical ballooning in TCM. Her follow-up echocardiography showed normal contractility of the apical myocardial segments, with normalization of the left ventricular systolic function, further supporting the reversibility of acute stress cardiomyopathy.

Discussion

Mechanisms of TCM in viral infections include catecholamine-induced myocardial toxicity and inflammation related to sepsis. A presumptive diagnosis of TCM was made based on the characteristic echocardiogram findings of apical ballooning, normalization of left ventricular systolic function, unremarkable past cardiac history and spontaneous improvement in serum troponin-I levels in the setting of a severe systemic illness.

Conclusion

Clinicians should be aware of the diversity of cardiovascular complications of COVID-19, including Takotsubo cardiomyopathy and should strategize appropriately for diagnosing and managing them.
C27. CATASTROPHIC EVENT IN PERCUTANEOUS CORONARY INTERVENTION PROCEDURE: TYPE III LEFT MAIN CORONARY ARTERY DISSECTION
Authors: Suwarjana K I G B P , Aryadana W , Pradnyana D. S B A , Suwirya A P
Published: March 2023

Percutaneous coronary intervention (PCI) is an invasive revascularization method to improve coronary blood flow in patients with CHD. A male patient, 61 years old, came to the cardiac clinic at Sanglah General Hospital, complaining intermittent chest pain since one month earlier. Coronary angiography found a stenosis of 70% in the ostium left anterior descending coronary artery (LAD), 80-90% in the proximal to distal LAD and 70-80% in the ostium to the proximal right coronary artery (RCA).The patient was diagnosed with coronary artery disease 2 vessel disease (CAD 2VD) and was then prepared for the PCI procedure on LAD.

The 6F Optitorque TIG catheter was then replaced with a 3.5/6F BL guide catheter to the LMCA ostium. Angiographic evaluation at the time of re-canulation revealed aortic dissection at the LMCA to the ascending aorta (type III) and cessation of blood flow to the LAD. The patient then complained of severe chest pain accompanied by shock. Wiring to distal LAD was performed quickly afterward using a 0.014”/180 cm Runtrough NS Floppy, followed by a 2.0 x 15 mm balloon inflation on the LMCA ostium to the proximal LAD. Then, double wiring was performed to the LCx using 0.014 "/ 180 cm Runtrough NS Floppy wire to maintain coronary patency. At last, the a 3.5 x 12 mm Drug Eluting Stent (DES) on the LMCA to proximal to the LAD. Despite stenting at the dissection site, the patient fell into shock, developed a malignant arrhythmia and subsequently had cardiac arrest.
C30. Clinical Decision Making in Intermediate Coronary Stenosis: Role of Fractional Flow Reserve
Authors: Kusnadi S , Nugraha M T
Published: March 2023

Background

Coronary stenosis can be managed by percutaneous coronary intervention (PCI). However, it has limitation by producing only 2D images of the actual 3D vascular lumen. It is necessary to assess the functional significance of stenosis with fractional flow reserve (FFR).

Case Summary

There are two patients in this case. The first patient was a 52-year-old man with typical chest pain, with a history of PCI in LAD 2 years earlier. Echocardiography revealed regional wall motion abnormality (RWMA) with reduced left ventricular ejection fraction (LVEF) of 30-40%. PCI with FFR guidance was performed. Previous stent in osteal-distal LAD was patent. In the distal LAD, a stenosis of 60-70% was obtained with FFR of 0.81. In distal LCX, 50-60% stenosis was also obtained with FFR of 0.91. No stent was implanted then. The second patient was a 59-year-old man with typical chest pain. The patient had been stented in proximal-mid LAD and LCX-OM a year earlier. Echocardiography showed RWMA with LVEF of 51-54%. LAD and LCX stents were patent. A 70-80% stenosis was found in both mid and distal RCA. FFR was done in the mid-RCA with result of 0.57, so stent was placed in the mid RCA. FFR at distal RCA was 0.31 so that the stent was also placed in the distal RCA. Both showed good results.

Discussion

Physiologic assessment is important before deciding to revascularize. FFR-guided PCI is expected to better guide us in managing intermediate coronary stenosis.