Clinical Presentation Research Articles

Follicular fluid-derived extracellular vesicles miR-34a-5p regulates granulosa cell glycolysis in polycystic ovary syndrome by targeting LDHA.

Polycystic ovary syndrome (PCOS) is highly prevalent in women of reproductive age worldwide, exhibits highly heterogeneous clinical presentation and biochemical parameters, and has no cure. This study aimed to investigate the role of miR-34a-5p in PCOS, its effect on glycolysis in granulosa cells (GCs), and its potential contribution to follicular dysregulation. Herein, Follicular follicular fluid (FF) samples were collected from six patients with PCOS and six healthy controls undergoing in vitro fertilization-embryo transfer. The isolated extracellular vesicles were characterized by transmission electron microscopy, nanoparticle tracking analysis, and western blotting. Additionally, miRNA sequencing was performed to identify differentially expressed microRNAs, and their functions were analyzed through transcriptomics. The In vitro effects of miR-34a-5p on glycolysis, cell proliferation, and apoptosis were assessed in human ovarian granulosa tumour cell line (KGN cells). Targets of miR-34a-5p were identified by dual-luciferase reporter assays, and quantitative real-time polymerase chain reaction and western blotting were performed to determine gene and protein expression. The level of miR-34a-5p in FF-derived extracellular vesicles derived from patients with PCOS was significantly higher than that of the control group. Transcriptomic analysis highlighted miR-34a-5p as a key regulator of glycolysis and apoptosis. Furthermore, in vitro analysis showed that miR-34a-5p targeted lactate dehydrogenase A (LDHA), inhibited glycolysis, reduced energy supply to GCs, and promoted apoptosis of KGN cells. Conversely, miR-34a-5p inhibition restored glycolysis function and cell viability. The findings of this study show that miR-34a-5p mediates GC apoptosis in PCOS by targeting LDHA and inhibiting glycolysis, suggesting its crucial role in PCOS pathophysiology, and offering potential therapeutic targets for improving follicular development and fertility outcomes in patients with PCOS. Further research is needed to explore the clinical implications of miR-34a-5p and its use as a biomarker for early diagnosis and prognosis of PCOS.

Audiometric Outcomes in Chronic Otitis Media with Mastoid Involvement: A Five-Year Clinical Overview

Background/Objectives. Otomastoiditis, an inflammatory condition affecting the middle ear and mastoid cells, poses significant risks for hearing impairment. This study aimed to analyze the clinical presentations, anatomical variations, and audiometric outcomes associated with acute and chronic otomastoiditis over a five-year period at the ENT Clinic of the Clinical County Emergency Hospital of Craiova. Methods. A retrospective clinical–statistical analysis was conducted on 145 patients aged 2 to 78 years, who were treated for otomastoiditis. The study involved a comprehensive review of clinical and audiometric data, with a focus on the type of hearing loss (conductive or mixed), audiometric thresholds, and the relationship between the anatomical form of the disease and the severity of hearing loss. Results. The majority of cases (93.83%) were chronic otomastoiditis, with 66.89% of patients presenting with mixed hearing loss and 33.10% with conductive hearing loss. Audiometric assessments revealed significant air conduction deficits, particularly at low and mid-range frequencies, with losses averaging 50–55 dB in cases of conductive hearing loss. Chronic cases demonstrated notable bone conduction impairments, indicating progressive cochlear damage. Statistical analysis identified a moderate correlation between the anatomical form of the disease and the severity of hearing loss, particularly in patients with cholesteatomatous-suppurative forms. Conclusions. This study underlines the critical need for the early and precise diagnosis of otomastoiditis, supported by audiometric evaluations. Our findings emphasize the substantial risk of progressive cochlear damage in chronic cases, underscoring the necessity for timely intervention to mitigate long-term hearing loss. These results offer valuable insights for clinicians, potentially guiding improved therapeutic approaches and contributing to enhanced patient outcomes in managing chronic otomastoiditis.

HPB SO11 - Dropped Gallstones After Laparoscopic Cholecystectomy: An Umbrella Review

Abstract Background Gallstones (cholelithiasis) are solid formations in the gallbladder or biliary tract due to high cholesterol or bilirubin levels, affecting 10-20% of adults. Over 20% of those affected show symptoms like biliary colic. Gallstones can be cholesterol, black pigment, or brown pigment, with cholesterol stones being the most common. The persistence of gallstones following laparoscopic cholecystectomy (LC) poses a significant clinical challenge, potentially leading to morbidity and diagnostic complexities, often with delayed recognition. These complications can present as various intraabdominal conditions such as abscesses (intraabdominal or abdominal wall), fistula formation, peritonitis, bowel perforation, or ileus. Method We performed an extensive search of the academic literature spanning several databases, namely PubMed, Embase, Scopus, Web of Science, and Google Scholar. Inclusion criteria for this research encompassed systematic reviews, with or without meta-analysis, focusing on the examination of spilled gallstones in terms of signs, symptoms, diagnosis, imaging, and management. The assessment of potential bias in the final study selection was undertaken utilizing the R-AMSTAR and Risk of Bias in Systematic Reviews (ROBIS) assessment tools. Results The most prevalent sites for lost gallstones were identified as the right subhepatic, perihepatic, retroperitoneal, right flank, and pelvic regions. Multiple stones were found to be more common than single stones. Clinical presentations included the presence of abdominal masses simulating malignancy, intestinal obstruction, and pelvic pain or fistula formation. Surgical intervention emerged as the primary treatment approach. Pain localized to the right upper quadrant was reported by 24% of participants. Computed tomography (CT) was the most frequently employed diagnostic modality for stone identification (70.2%), followed by ultrasonography (US) (63.2%) and X-ray (42.9%). Conclusion Our research underscores a significant area that has received limited attention in existing literature. The occurrence of spilled gallstones presents challenges in diagnosis and carries the potential for severe post-laparoscopic cholecystectomy complications. A notable gap exists in the education of both surgeons and patients regarding this complication, emphasizing the need for heightened awareness among surgeons. Given the considerable variability observed between laparoscopic cholecystectomy procedures and the onset of associated symptoms, comprehensive studies with larger cohorts are imperative for elucidating pertinent risk factors and devising effective interventions.

Abstract 4142798: Differences in Clinical presentation in Spontaneous Coronary Artery Dissection vs. Type 1 Myocardial Infarction

Background: Spontaneous coronary artery dissection (SCAD) refers to the nontraumatic, non-iatrogenic, and nonatherosclerotic separation of the coronary artery wall leading to acute coronary syndrome. This condition predominantly affects women with minimal or no traditional cardiac risk factors. We aimed to determine the differences in clinical presentation between SCAD and Type 1 myocardial infarction (MI) in the Aurora Health Care community. Methods: A retrospective, matched cohort, multicenter community study was carried out on adult patients aged >18 years admitted to all Aurora Hospitals from January 2012 to December 2022. A total of 57 patients were diagnosed with SCAD during that period. SCAD group and Type 1 MI group were matched by age and gender at a 1:5 ratio using a propensity score-based matching. Outcomes between the SCAD and the Type 1 MI groups were compared using chi-squared tests or Fisher’s exact tests, and t-tests or nonparametric equivalents (Wilcoxon). Results: A higher percentage of Type 1 MI patients presented as NSTEMI compared to SCAD patients (70% vs. 59.6%, p=0.028). Although not statistically significant, SCAD patients had a higher occurrence of STEMI than Type 1 MI patients (42.1% vs. 32.6%, p=0.169). On admission, SCAD patients had a higher maximum troponin (12,000 vs. 3,550, p=0.012). Type 1 MI patients had higher HgbA1C (6 vs. 5.4, p=0.0008). Both patients had similar LDL levels, but Type 1 MI had lower HDL levels (44 vs. 48, p=0.024). ESR, CRP, and D-dimer levels showed no significant difference. LV ejection fraction was 53% in both groups, and the LV global longitudinal strain was similar. The Type 1 MI group exhibited higher grades of diastolic dysfunction (Grade 2 and Grade 3) and mitral valve disease. E/e was higher in Type 1 MI compared to SCAD (11.5 vs 8.8, p <0.0001). Type 2 SCAD was most prevalent at presentation, with the most frequently affected artery being LAD (47.4%) and the most frequently affected branch vessel being obtuse marginal (36.4%). The most common location was distal (59.6%), followed by mid (22.8%), with the diameter of the vessel involved mostly between 2-3.5 mm. Conclusion: This study observed that although more SCAD patients presented as STEMI with higher troponins, Type 1 MI patients were sicker overall. These differences in clinical findings can aid in diagnosis as the management of these two populations differ.

Abstract 4138603: Adult-onset Kawasaki Disease: An Updated Review of the English-Language Literature from 1980 Through 2023

Introduction: Kawasaki disease (KD) is a pan-vasculitis that primarily affects children and rarely adults. Available data on adult-onset KD are based on case reports and case series, both of which are limited by small sizes. We aimed to characterize the epidemiology, presentation, hospital course, and outcomes of adult-onset KD published in the English literature from 1980 through 2023. Methods: We retrospectively reviewed and included published articles with a diagnosis of KD in patients age ≥18 years. We searched PubMed and Google scholar for case reports/series published in English using the keywords “adult”, “Kawasaki disease”, and “mucocutaneous lymph node syndrome”. We extracted data from individual articles onto an Excel spreadsheet for analysis. Outcomes of interest were the demographic characteristics of patients, clinical presentation and hospital course, management, and complications. Descriptive statistics were used to analyze the data. Results: A total of 137 patients from 29 countries were included in this study. The majority were male (90/137, 64.9%; M:F ratio 1.8) and the median age was 25 years (range, 18-68). The median time to clinical presentation was 5 days (range, 4-60). The main signs and symptoms were fever (95.7%), skin rash (92.9%), conjunctivitis (89.3%), extremity changes (84.3%), oral changes (85.7%), and cervical lymphadenopathy (73.7%). The majority of the patients had no co-morbidities (125/137, 91.2%). EKG changes were not reported in 48 patients (35%). In the remaining 89, 26 (29.2%) had normal EKG or sinus tachycardia, 9 (10.1%) had ST segment elevation, and 9 (10.1%) had arrythmias or abnormal EKGs. Pharmacotherapy included IVIG (80/137, 58.4%), Aspirin (105/137, 76.6%), steroids (31/137, 22.6%) and antibiotics (68/137, 49.6%). For complications, 18.2% (25/137) had aneurysms, 8% (11/137) had myocardial infarction, 10.9% (15/137) had myocarditis, 10% had pericarditis/pericardial effusion, and 10.9% (15/137) had KD shock syndrome. The median length of stay was 14 days (range, 1-60 days). Three patients (2%) died from KD. Conclusion: Adult-onset KD is rare and is associated with significant cardiovascular complications. Clinicians should have high index of suspicion for prompt diagnoses and initiate appropriate treatment to improve outcomes.

South African occupational therapists' orthotic management of trigger finger and factors influencing their decision regarding splinting type

Background: Orthotic management of trigger finger refers to the use of splints to immobilise affected joints. The prevalence of trigger finger and the management and treatment practices utilised by occupational therapists for this affliction in South Africa, are not yet documented. Aim: To explore occupational therapists' orthotic management for clients with trigger finger in KwaZulu-Natal, and the factors influencing the therapists' decisions when prescribing orthoses. Methods: A quantitative cross-sectional study design was implemented with a sample size of 102 via a stratified random sampling approach. A survey questionnaire was administered. Data were coded using frequencies and then descriptively analysed using SPSS. Results: Findings indicated that trigger finger is common in clinical settings and the majority (99%) of the occupational therapists use splints when managing trigger finger and as a first line of treatment (69.9%). The joint-blocking splint is preferred by 96.6% of the participants with the MCP joint-blocking splint being favoured by 55.0%. The most considered factors when deciding on the splint type are clinical presentation (99.1%) and the client's occupation (92.4%), and the most preferred measures of the effectiveness of treatment are pain (97.1%) and range of motion (97%). Conclusion: The study has demonstrated that the inconsistencies noted in global research also apply in KwaZulu-Natal. Therefore, further investigation on the effectiveness of splinting and a guide on deciding on splint type as well as appropriate outcome measures, are necessary to ensure that cclients receive optimal care through evidence-informed practice. Implications for Practice: This study informs further understanding of the current assessment ptior to splinting and treatment practices that occupational therapist in the South African context provide for their clients with trigger-finger. The study demonstrates that irrespective of the participant's level of experience and their clinical settings, the considerations when deciding on splint types remain the same. The results are consistent with available literature, particularly with which splint type to use. However, the development for a guide regarding the orthotic management of trigger finger covering aspects like the splint regime and the recommendations of exercises is vital, as discrepancies emerged largely fro these areas. The type of exercises, stages at which they may be introduced, duration and requenccy should be considered for deeper engagement. the development of this protocol will ensure consistency of treatment and evidence-informed practice.

Abstract 4131424: Exercise Stress Perfusion Cardiac MRI in Pediatric Patients with Coronary Anomalies

Introduction: Anomalous aortic origin of a coronary artery (AAOCA) can result in sudden cardiac death in the young and risk stratification is challenging. Though dobutamine stress cardiac MRI (DS-CMR) is feasible in pediatric patients, exercise stress CMR (ES-CMR) has lower rates of adverse events, higher diagnostic accuracy, and the ability to better reflect the physiologic changes occurring with exercise. No studies have evaluated ES-CMR in the pediatric population. We aim to describe our institution’s experience with ES-CMR using supine bicycle ergometry in patients with AAOCA. Methods: We retrospectively reviewed the medical records of AAOCA patients who underwent ES-CMR at our institution between 2011 and 2024 for demographic, clinical presentation, cardiopulmonary exercise test (CPET) and ES-CMR data. The exercise-based portion of the CMR consisted of supine cycle ergometry utilizing a ramp protocol, immediately after which perfusion imaging was performed. We used descriptive statistics for data analysis. Results: Of 38 patients who underwent ES-CMR, the median age was 16 years (range 13-24) and 68% were male. Diagnoses included anomalous right coronary artery (N=28), anomalous left coronary artery (N=8), and single coronary artery (N=1 single right, N=1 single left). Median maximal heart rate (HR) during ES-CMR was 160 bpm (range 130-190, median 80% predicted) with a median maximal HR during patients’ most recent CPET of 187 bpm (range 160-203, median 97% predicted). No patients had perfusion defects at rest or with exercise stress, or evidence of myocardial scarring. There were no adverse events. Discussion: We demonstrate for the first time the use of ES-CMR in a cohort of pediatric and young adult patients with AAOCA. ES-CMR can provide a unique modality to assess for ischemia at rest and stress as a means of risk stratification and simulate physiologic changes occurring with exercise stress in a single study. Although maximum heart rates during supine cycle ergometry are lower than those reached during CPET, they are similar to those reached during DS-CMR. ES-CMR can be a helpful and safe diagnostic tool in patients with AAOCA.

Abstract 4137058: Clinical Characteristics and Outcomes of South Asians Presenting with Acute Coronary Syndrome

Background: Patients of South Asian descent have a higher incidence of atherosclerotic cardiovascular disease and are affected by clinically significant coronary artery disease at an earlier age when compared to the general population. As a result, they have been shown to have a higher rate of cardiovascular events. This at-risk population has not been well studied as it pertains to acute coronary syndrome. Methods: Out of 1610 patients who presented to one of two tertiary care centers between 2021-2022 with a diagnosis of acute coronary syndrome and underwent coronary angiography, 240 patients were identified as being South Asian and were included in the study. 480 non-South Asian patients were randomly selected as controls. A retrospective analysis was conducted to study the demographics, risk factors, clinical presentation, diagnostic features, and outcomes of the two groups. Results: South Asian patients who were diagnosed with acute coronary syndrome and underwent coronary angiography were significantly younger than non-South Asian patients (61 vs 65 years, p < 0.001). Though they were less likely to be smokers, they were significantly more likely to have other known risk factors including hypertension, dyslipidemia, and a history of prior myocardial infarction (p < 0.001). South Asians had mean lower HDL (p = 0.02), higher triglycerides (0.006), and higher Hgb A1C (p < 0.001). Surprisingly, rates of multivessel disease (defined as stenosis of 50% or greater in two or three vessels) were similar between the two groups. South Asians were more likely to be referred for CABG after initial coronary angiography most likely due to diffuse disease (p = 0.014). Clinical outcomes including pre-discharge LVEF, and 2-year mortality were similar between the groups. Conclusions: South Asians are a notoriously high-risk group when it comes to early-onset and more severe coronary artery disease. The pathophysiology behind this disproportionate manifestation of cardiovascular disease is not entirely understood, but several efforts to delineate this are ongoing. Our data demonstrate that this is at least in part, due to a higher prevalence of conventional modifiable and nonmodifiable risk factors in South Asian patients.

Type 2 diabetes pathway-specific polygenic risk scores elucidate heterogeneity in clinical presentation, disease progression and diabetic complications in 18,217 Chinese individuals with type 2 diabetes.

Type 2 diabetes is a complex and heterogeneous disease and the aetiological components underlying the heterogeneity remain unclear in the Chinese and East Asian population. Therefore, we aimed to investigate whether specific pathophysiological pathways drive the clinical heterogeneity in type 2 diabetes. We employed newly developed type 2 diabetes hard-clustering and soft-clustering pathway-specific polygenic risk scores (psPRSs) to characterise individual genetic susceptibility to pathophysiological pathways implicated in type 2 diabetes in 18,217 Chinese patients from Hong Kong. The 'total' type 2 diabetes polygenic risk score (PRS) was summed by genome-wide significant type 2 diabetes signals (n=1289). We examined the associations between psPRSs and cardiometabolic profile, age of onset, two glycaemic deterioration outcomes (clinical requirement of insulin treatment, defined by two consecutive HbA1c values ≥69 mmol/mol [8.5%] more than 3 months apart during treatment with two or more oral glucose-lowering drugs, and insulin initiation), three renal (albuminuria, end-stage renal disease and chronic kidney disease) outcomes and five cardiovascular outcomes. Although most psPRSs and total type 2 diabetes PRS were associated with an earlier and younger onset of type 2 diabetes, the psPRSs showed distinct associations with clinical outcomes. In particular, individuals with normal weight showed higher psPRSs for beta cell dysfunction and lipodystrophy than those who were overweight. The psPRSs for obesity were associated with faster progression to clinical requirement of insulin treatment (adjusted HR [95% CI] 1.09 [1.05, 1.13], p<0.0001), end-stage renal disease (1.10 [1.04, 1.16], p=0.0007) and CVD (1.10 [1.05, 1.16], p<0.0001) while the psPRSs for beta cell dysfunction were associated with reduced incident end-stage renal disease (0.90 [0.85, 0.95], p=0.0001) and heart failure (0.83 [0.73, 0.93], p=0.0011). Major findings remained significant after adjusting for a set of clinical variables. Beta cell dysfunction and lipodystrophy could be the driving pathological pathways in type 2 diabetes in individuals with normal weight. Genetic risks of beta cell dysfunction and obesity represent two major genetic drivers of type 2 diabetes heterogeneity in disease progression and diabetic complications, which are shared across ancestry groups. Type 2 diabetes psPRSs may help inform patient stratification according to aetiology and guide precision diabetes care.

Abstract 4138717: Infective Root Aortitis: Medical Therapy Alone or Medical Therapy and Surgery?

Clinical presentation: A 75-year-old male with previous 3 vessel CABG and bioprosthetic aortic valve (BAV) surgical replacement in 2013 was admitted with severe sepsis from diabetic foot ulcer complicated with Group A Streptococcus bacteremia and infective root aortitis. Imaging Findings: Initial technically limited transthoracic echocardiogram was followed by a transesophageal echocardiogram (TEE) that demonstrated a well seated BAV with mildly thickened leaflets but no vegetations, mild intra-valvular regurgitation, and 9 mm end-diastolic soft tissue echoreflectant thickening of the posterior aortic root (AoR) extending up 3 cm from the aortic annulus to the ascending aorta (Fig 1A,B). There were no signs of perivalvular abscess formation. Initial FDG PET-CT demonstrated heterogenous hypermetabolic activity at the annulus of the BAV (Fig 1C) and AoR (Fig 1D) consistent with aortitis. Decision-making: In the absence of guidelines for the management of these patients, a multidisciplinary team including cardiology, cardiothoracic surgery, and infectious disease opted for a conservative medical therapy instead of high-risk surgery. Patient then underwent left foot first digit amputation to achieve infectious source control. Upon completion of 4 out of 6 weeks of intravenous ceftriaxone 2 grams daily, repeat TEE showed improved AoR thickening to 6 mm (Fig 1E,F), no AoR abscess, and unchanged BAV structure and function. Repeat FDG PET-CT at the same time of TEE demonstrated persistent but improved hypermetabolic activity of the BAV annulus and AoR. After 10 weeks of IV antibiotics, repeat FDG PET-CT showed further decrease in metabolic activity on both areas. However, an Indium-111 labeled leukocyte scan showed no activity at the BAV annulus and root (Fig 1G) and therefore indicated healed AoR aortitis, which was further supported by significant decrease of ESR and CRP initial values of 126 mm/hr and 122.7 mg/L to 11 mm/hr and 3 mg/L, respectively. Patient is currently clinically stable 8 months later. Conclusion: This case illustrates that a conservative management of infective AoR aortitis with an extended course of intravenous antibiotics is a reasonable alternative to high-risk re-do valve and root surgery.

Clinical Presentation, Management, and Outcome in Neurolymphomatosis: A Systematic Review.

Clinical Presentation, Management, and Outcome in Neurolymphomatosis: A Systematic Review.

Abstract 4138622: Cardiac Rhabdomyosarcoma: An Updated Review of the English Literature From 1980 Through 2023

Cardiac Rhabdomyosarcoma (CR) is a rare malignant neoplasm of the heart occurring in all age groups and genders. It can arise anywhere in the heart with varied clinical presentation. Available data on CR are mainly from case reports and series that are limited by small sizes. The purpose of this study was to characterize the epidemiology, presentation, management, hospital course, and outcomes of CR published in the English literature from 1980-2023. Methods: We reviewed and included all published case reports with a diagnosis of CR in adult patients (age &gt;18 years) on PubMed and Google Scholar using the keywords “primary cardiac tumor” and “cardiac rhabdomyosarcoma”. Data was extracted onto an Excel spreadsheet for analysis and the outcomes of interest were demographics, clinical presentation, diagnostic modalities, management, complications, and outcomes. We used descriptive statistics to analyze the data. Results: Among a total of 97 patients from 19 countries included in this study, 54% were males and the median age was 49 years (range 18-80). The main symptoms were dyspnea (37.1%), palpitations (23.7%), chest pains (16.5%) and syncope (6.5%). Hypotension or heart failure and arrhythmias were present in 10.3% and 9.3%, respectively and 5.2% had pericardial effusion. In addition to those with metastatic tumors, 22.7% had chronic co-morbidities. The majority of the cases were primary tumors (85.6%), and the remainder were (14.4%). All patients had at least one imaging modality including echocardiography (89%) and CT/MRI (84%). The commonest sites of cardiac involvement were the left atrium (35%), right atrium (33%), right ventricle (20%), and left ventricle (12%). Approximately 68% involved a single cardiac site while 32% involved multiple sites. Among the patients, 96% underwent surgery while 33% and 25% had chemotherapy and 25% radiotherapy, respectively. The median length of hospital stay was 11 days (range, 2-68 days), and mortality was recorded in 79.3% (77/97) of the patients. The median survival time was reported in 42 patients, and it was 6 months (range, 0-36 months). Conclusion: Cardiac rhabdomyosarcoma is a rare and aggressive malignant neoplasm. Most cases are primary tumors with poor outcomes such as a very short median survival time and a very high mortality rate despite the combination of surgery, chemotherapy, and radiotherapy. This calls for further research into the early diagnosis and optimal management strategies to improve outcomes.

Abstract 4135215: Eosinophilic Coronary Periarteritis (ECPA): An Under-recognized Coronary Disease with Fatal Consequences

Clinical presentation: A 50-year-old male with a paraesophageal hernia and grade D esophagitis presented to the ER with complaints of heartburn. He subsequently went into cardiac arrest and was diagnosed with a hemopericardium with tamponade physiology from a ruptured right coronary artery (RCA). Imaging Findings: Initial CT of the chest found a 1.5x1.5 cm dilation of the proximal RCA (Fig1A). Post cardiac arrest, repeat CT of the chest revealed an interval increase of the proximal RCA measuring 3.5x3.5 cm and a moderate-to-large hemopericardium (Fig1B). An emergent limited TEE demonstrated a large circumferential hemopericardium and biventricular standstill. Decision-making: In the ER, the initial symptoms resolved and he remained under observation. Hours later, he became bradycardic with a heart in the 20s and was found unresponsive. ACLS was activated and the patient was emergently cannulated and ECMO was initiated due to refractory cardiac arrest. Despite efforts from a multidisciplinary team including cardiology, cardiothoracic surgery and cardiac critical care, ROSC could not be achieved thus portending a poor prognosis. The family decided to withdraw care and the patient expired. Autopsy revealed a 925 mL hemopericardium from a ruptured 3.5 cm severely aneurysmal RCA and other remarkable findings included a 2 cm proximal aneurysm of left anterior descending artery and a 1 cm proximal aneurysm of left circumflex artery (Fig2A,B). Genetic testing for connective tissue disease was negative. Histopathology showed an eosinophilic predominant inflammatory infiltrate of the adventitia suggesting periarteritis (Fig2C) without signs of vasculitis in other organs. Conclusion: ECPA (eosinophilic coronary periarteritis) is a fatal entity with reported cases of sudden cardiac death and findings of vessel medial degeneration and coronary dissection. This case raises awareness of an under-recognized condition with limited guidance in diagnostic and therapeutic interventions.

Clinical Presentations and Treatment Approaches in a Retrospective Analysis of 128 Intracranial Arteriovenous Malformation Cases

Background: Intracranial AVMs are a highly heterogeneous group of lesions that, while not very common, can pose significant risks. The therapeutic management of AVMs is complicated by ambiguous guidelines, particularly regarding which Spetzler–Martin grades should dictate specific treatment options. This study analyzed the clinical presentations and treatment approaches of 128 brain AVM cases managed between 2014 and 2022 at the National Institute of Neurology and Neurovascular Diseases in Bucharest, Romania. Methods: A retrospective analysis was conducted on patient demographics, clinical symptoms, Spetzler–Martin categorization, nidus localization, therapeutic management, and outcomes. Statistical analysis was performed using Python 3.10. Results: In our cohort of patients, the median age was 45 years, with a slight male predominance (67 males, 61 females). At admission, 51.5% presented with elevated blood pressure. The majority of patients had a Spetzler–Martin score of 2 (37.5%), followed by scores of 3 (31.3%) and 1 (20.3%). Treatment strategies included microsurgical resection in 32% of cases, conservative management in 31.2%, Gamma Knife radiosurgery in 22.6%, and endovascular embolization in 13.3%. Notably, open surgery was predominantly chosen for Grade II AVMs. The functional outcomes were favorable, with 69.5% achieving a good recovery score on the Glasgow Outcome Scale. Only four in-hospital deaths occurred, all in patients who underwent open surgery, and no deaths were recorded during the two-year follow-up. Conclusions: AVMs within the same Spetzler–Martin grade display considerable complexity, necessitating personalized treatment strategies. Our findings highlight the limitations of open surgery for Grade I cases but affirm its effectiveness for Grade II AVMs.

Abstract 4131488: Artificial Intelligence-Enhanced Electrocardiogram for the Diagnosis of Cardiac Amyloidosis: A Systemic Review and Meta-analysis

Background: Diagnosis of cardiac amyloidosis (CA) is often delayed due to variability in clinical presentation. The electrocardiogram (ECG) is one of the most common and widely available tools for assessing cardiovascular diseases. Artificial intelligence (AI) models analyzing ECG have recently been developed to detect CA, but their pooled accuracy is yet to be evaluated. Aim: To meta-analyze the accuracy of AI-enhanced ECG in diagnosing CA. Methods: We searched the Scopus, MEDLINE, and Cochrane CENTRAL databases up until April 2024 for studies assessing AI-enhanced ECG diagnosis of CA. Studies reporting findings from derivation and validation cohorts were included. Studies combining other diagnostic modalities such as echocardiography were excluded. The outcome of interest was the area under the receiver operating characteristic curve (AUC) for overall CA and subtypes transthyretin amyloidosis (ATTR) and light chain amyloidosis (AL). Analysis was done using RevMan 5.4.1 general inverse variance random effects model, pooling data for AUC and 95% confidence intervals (CI). Results: 5 studies comprising 7 cohorts met the eligibility criteria. The total derivation and validation cohorts were 8,639 and 3,843 respectively. The AUC were 0.89 (95% CI, 0.86-0.91) for cardiac amyloidosis, 0.90 (95% CI, 0.86-0.95) for ATTR amyloidosis and 0.80 (95% CI, 0.80-0.93) for AL amyloidosis. The forest plots can be found in the Figure 1. Conclusion: AI-enhanced ECG models effectively detect CA and may provide a useful tool for the early detection and intervention of this disease.

Diagnosis and Treatment of Renal ANCA Vasculitis: A Summary of the Consensus Document of the Catalan Group for the Study of Glomerular Diseases (GLOMCAT)

The document provides a comprehensive overview of the diagnosis, monitoring, and treatment of anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) with renal involvement, focusing on granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA). It outlines the definitions, clinical presentation, histopathological classification, monitoring strategies, induction and maintenance treatments, as well as special considerations for relapsing, refractory, and frail patients with renal AAV. The document was prepared by the Catalan Group for the Study of Glomerular Diseases (GLOMCAT), which comprises nephrologists with extensive experience in the diagnosis and treatment of AAV patients. Several virtual and face-to-face meetings were held for coordination, section assignments, and content discussion. An exhaustive and systematic search of the literature was carried out, which included, among others, the following databases: PubMed, EMBASE, Cochrane Library, Google Scholar, and ClinicalTrials.gov, as well as the abstract books of national and international congresses. Overall, the document provides a comprehensive guide for clinicians managing patients with renal AAV, offering evidence-based recommendations for diagnosis, monitoring, and treatment across various clinical scenarios.

5'-Noraristeromycin Repurposing: Well-known S-Adenosyl-L-homocysteine Hydrolase Inhibitor As a Potential Drug Against Leukemia

5ˊ-Noraristeromycin as a racemic mixture of enantiomers was found to exhibit a pronounced cytotoxic effect on leukemia cells; IC50 for the Jurkat, K562, and THP-1 cell lines was 7.3, 1.3, and 3.7 μM, respectively. The general toxicity of 5'-noraristeromycin was studied in experiments on white mice upon single-dose intragastric administration; toxicometric parameters were determined, and the clinical and pathomorphological presentation of acute intoxication was studied. LD50 of the substance was shown to be 63.2 (52.7÷75.8) mg/kg; LD16, 44.7 mg/kg, and LD84, 89.4 mg/kg. Administration of the substance at a dose within the studied dose range is accompanied by systemic damage to the internal organs and tissues of the experimental animals.

Exploring Cardiac Variability in Hypereosinophilia: Clinical Insights and Echocardiographic Findings

Introduction: The cardiac manifestations of hypereosinophilia include mainly endomyocardial fibrosis, which is the most frequently observed form. However, eosinophilic cardiopathy can manifest itself in different ways, affecting the various layers of the heart and presenting a variety of clinical and echocardiographic presentations. Aim: The aim of our study is to describe the various aspects of cardiac involvement observed in hypereosinophilia, based on our case series and data from the literature. Methods: This is a retrospective, descriptive study of five observations illustrating the diversity of eosinophilic cardiopathy, from the cardiology department of the Mohammed VI University Hospital in Marrakech, over a period of 12 months. Results: Over the period of the study, five patients presented with cardiac damage in the context of hypereosinophilia. The mean age was 53.8 years, with a predominance of women (sex ratio 0.66). In the majority of cases, the discovery of cardiac involvement was incidental to a cardiovascular check-up requested during the course of their medical condition. All cases had high levels of hypereosinophilia, with an average of 5681. These observations illustrate the wide variety of aetiologies of hypereosinophilia, all of which were represented: 3 cases of Churg-Strauss syndrome, 1 case of idiopathic hypereosinophilia syndrome, and 1 case of DRESS syndrome. The cardiac disorders observed were hypokinetic cardiomyopathy at the dilated stage in 60% of cases, acute eosinophilic myocarditis in 20%, and acute pericarditis in the remaining cases. The outcome was marked by an improvement in the FE in 60% of cases, stabilisation in 20%, and a fatal outcome in the remainder. Treatment is based on symptomatic therapy of the CHF and treatment of the underlying aetiology. Discussion and Conclusion: Eosinophils are cytotoxic through the release of granular proteins that initially attack the endocardium, leading to thrombosis and embolic events. Subsequently, this aggression contributes to fibrosis and valvular complications. Cardiac damage can also manifest itself as potentially serious acute myocarditis or pericarditis, which can progress to cardiac tamponade. These cardiac disorders and the diversity of possible aetiologies serve as a reminder that vital prognosis may be at stake in the acute phase, and to emphasise that functional prognosis depends on early echocardiographic screening and rapid initiation of treatment to limit the risk of thrombo-embolic and fibrosing complications.

Abstract 4135893: The Importance of Genetic Testing in Diagnosis and Management of Peripartum Cardiomyopathy: A Case Study

Introduction: At least 15% of women diagnosed with peripartum cardiomyopathy (PPCM) are found to have a pathogenic genetic variant associated with dilated cardiomyopathy. We present a patient with PPCM who required orthotopic heart transplantation (OHT) for cardiogenic shock. Her explant pathology and genetic testing played a critical role in identifying the etiology of her cardiomyopathy. Case Description: A 22-year-old primigravid woman with a history of asthma presented in labor and underwent a Cesarean delivery for non-reassuring fetal heart tones. She had noted exertional dyspnea, a dry cough, and orthopnea in her final weeks of pregnancy but had an otherwise uncomplicated pregnancy. Immediately following delivery, she suffered a cardiac arrest with pulseless electrical activity and developed cardiogenic shock. She was found to have severe biventricular systolic dysfunction with a left ventricular (LV) ejection fraction of 10%. She was cannulated on veno-arterial extracorporeal membrane oxygenation (VA-ECMO) and transferred to our center. She was transitioned from VA-ECMO to an axillary Impella 5.5 device but continued to require inotropic support without evidence of LV recovery. Therefore, she was listed for and successfully underwent OHT. Explant pathology (Figure 1) revealed arrhythmogenic cardiomyopathy (ACM). Her family history was significant for a maternal grandfather who died of an unspecified arrhythmia at age 57. Genetic testing via a commercial arrhythmia and cardiomyopathy panel revealed a pathogenic desmoplakin ( DSP) truncating variant ( DSP tv) p.Ser1894Leufs*34 in the N-terminal constitutive NMD-competent region, confirming the diagnosis of ACM. The patient had minor cutaneous findings, including curly hair, consistent with the clinical presentation of DSP -mediated ACM. Discussion: This case highlights the importance of genetic testing in all patients with PPCM, as well as attention to the explant pathology in those who undergo OHT. These practices can elucidate the mechanism of cardiomyopathy, inform the risks of disease progression and of relapse with subsequent pregnancy, and allow for cascade testing of family members.

A Prospective Observational Study on the Clinical Profile Assessment of Myocardial Infarction Patients in a Tertiary Care Teaching Hospital

Background: Cardiovascular Diseases (CVDs) are the single largest contributor to the global burden of disease and are recognized as the leading cause of death globally. CHD has various clinical manifestations ranging from asymptomatic to acute conditions, namely acute coronary syndrome. Cardiovascular risk factors for acute coronary syndrome (ACS) are on the rise in people of Indian origin. Myocardial Infarction (MI) also called as heart attack, infarction means the death of an area of tissue because of interrupted blood supply. Myocardial Infarction has become a growing concern among the cardiovascular diseases, hence the study is conducted in order to assess the clinical profile of patients suffering from MI. Aim: To assess the clinical presentations, risk factors, short-term complications and management of patients with MI. Methodology: A prospective observational study was conducted in a tertiary care teaching hospital over six months. A total of 121 patients were selected based on inclusion and exclusion criteria. Results: Among the 121 patients included, the predominant were males (63.63%). Most of the patients fell under the age group of 51-60 (n=46). The common presenting symptoms were chest pain (42.32%), followed by breathlessness (26.04%) and sweating (15.34%). Most patients had NSTEMI (62.80%) and STEMI (37.19%). Alcohol (23.44%) was major risk factor followed by smoking (22.48%) and diabetes (14.35%). The elevated biomarkers noted were Troponin I (42.14%), Troponin T (37.19%) and CK-MB (6.61%) respectively. The majority of infarctions occurred on inferior wall (30.57%). The most prevalent complication observed was heart failure (14.8%) followed by sinus tachycardia (6.61%), and sinus bradycardia (5.78%). The majority of patients received key medications like anti-platelet agents, statins and anti-coagulants during hospital stay. Conclusion: The risk of men developing myocardial infarction is more compared to women due to various reasons. It is more likely that the diagnosis of myocardial infarction is neglected due to certain presenting symptoms like epigastric pain, syncope, vomiting, sweating etc., hence this study was conducted with an overview of creating awareness regarding the severity of myocardial infarction along with the advantages of early diagnosis.