Center Experience Research Articles

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.

Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme. Current estimates of disease incidence range from 0.4 to 0.6 in 100 000 livebirths, although this is likely an underestimation of the true frequency of the disorder. While there is no cure for ASMD, comprehensive care guidelines and enzyme replacement therapy are available, making an early diagnosis crucial. Newborn screening (NBS) for ASMD is possible through measurement of ASM activity in dried blood spots and offers the opportunity for early diagnosis. In 2015, Illinois (IL) became the first to initiate statewide implementation of NBS for ASMD. This study describes the outcomes of screen-positive patients referred to Ann & Robert H. Lurie Children's Hospital (Lurie). Ten infants were referred for diagnostic evaluation at Lurie, and all 10 infants were classified as confirmed ASMD or at risk for ASMD through a combination of molecular and biochemical testing. Disease incidence was calculated using data from this statewide implementation program and was ~0.79 in 100 000 livebirths. This study demonstrates successful implementation of NBS for ASMD in IL, with high screen specificity and a notable absence of false positive screens.

Endovascular Treatment for Complex Vascular Pathologies in the Pediatric Population: Experience from a Center with Dual-Trained Neurosurgeons

Endovascular treatment of complex vascular pathologies in the pediatric population is often performed by non-pediatric subspecialists with adaptation of equipment and techniques developed for adult patients. We aimed to report our center's experience with safety and outcomes of endovascular treatments for pediatric vascular pathologies. We performed a retrospective review of our endovascular database. All patients ≤18 years who underwent endovascular treatment between January 1, 2004 and December 1, 2022 were included. During the study time frame, 118 cerebral angiograms were performed for interventional purposes in 55 patients. Of these patients, 8(14.5%) had intracranial aneurysms, 21(38.2%) had intracranial arteriovenous malformations (AVMs), 6(10.9%) had tumors, 5(9.1%) had arterial occlusions (n=3) or dissections (n=2), 8(14.5%) had vein of Galen malformations, and 7(12.7%) had other cerebrovascular conditions. Of the total 118 procedures, access-site complications occurred in 2(1.7%), intraprocedural complications occurred in 3(2.5%), and transient neurological deficits were observed after 2(1.7%). Treatment-related mortality occurred in 1(1.8%) patient. Neurointervention in pediatric patients was safe and effective in our experience.

1076 Stop Before You Bier's Block- a Major Trauma Centre's Experience of Improving Intravenous Regional Anaesthesia Safety

1076 Stop Before You Bier's Block- a Major Trauma Centre's Experience of Improving Intravenous Regional Anaesthesia Safety

Total body irradiation: A transition from a Co-60 treatment unit to an IMRT lateral-field extended-SAD technique.

The purpose of this work was to detail our center's experience in transitioning from a Co-60 treatment technique to an intensity modulated radiation therapy (IMRT) based lateral-field extended source-to-axis distance (e-SAD) technique for total body irradiation (TBI). An existing beam model in RayStation v.10A was validated for the use of e-SAD TBI treatments. Data were acquired with an Elekta Synergy linear accelerator (LINAC) at an extended source-to-surface distance of 365cm with an 18 MV beam. Beam model validation measurements included percentage depth dose (PDD), profile data, surface dose, build-up region and transmission measurements. End-to-end testing was carried out using an anthropomorphic phantom. Treatments were performed in a supine position in a whole-body Vac-Lok at an e-SAD of 400cm with a beam spoiler 10cm from the couch. Planning was achieved using IMRT, where multi-leaf collimators were used to modulate the beam and shield the organs at risk. Beam's eye view projection images were used for in-room patient positioning and in-vivo dosimetry was performed for every treatment. The percent difference between the measured and calculated PDD and profiles was less than 2% at all locations. Surface dose was 83.8% of the maximum dose with the beam spoiler at a 10cm distance from the phantom. The largest percent difference between the treatment planning system (TPS) and measured data within the anthropomorphic phantom was approximately 2%. In-vivo dosimetry measurements yielded results within the 5% institutional threshold. In 2022, 17 patients were successfully treated using the new IMRT-based lateral-field e-SAD TBI technique. The resulting clinical plans respected the institutional standard. The commissioning process, as well as the treatment planning and delivery aspects were described in this work with the intention of supporting other clinics in implementing this treatment method.

Extracorporeal Membrane Oxygenation after Pediatric Cardiac Surgery: A Single-Center Experience.

Extracorporeal membrane oxygenation (ECMO) is a life-saving treatment option providing cardiopulmonary support when standard therapies prove insufficient for reversible diseases. The mean objective of this study was to evaluate our center's experience with ECMO following pediatric cardiac surgery. This retrospective study was conducted in our pediatric intensive care unit (PICU) between November 2014 and March 2021 and included patients who received ECMO following cardiac surgery. Over the 7-year period, 324 patients underwent cardiac surgery, of which 24 (7.4%) required ECMO support. Among them, 13 (54.2%) were female, with a median age of 16.0 (2.0- 208) months and a median weight of 7.0 (3.5-70) kg. The mean vasoactive inotrope score (VIS) was 53.9 ± 44.5. Atrioventricular septal defect repair was the most common surgical procedure (n = 8/24, 41.6%). The primary indication for ECMO was low cardiac output syndrome (LCOS) in 14 (58.3%) patients. The median duration of ECMO support was 6.0 (1.0-46.0) days. Nonsurvivors had significantly higher Pediatric Risk Score of Mortality (PRISM) III scores (P = .014) and VIS scores during the pre-ECMO period (P = .004). Early or late neurological complications developed in 12 (50%) patients, with significant differences in lactate levels and pH levels preECMO between those with and without neurological complications (P = .01, P = .02, respectively). We successfully decannulated 16 (66.6%) patients, with a final survival rate of 12 (50%). ECMO plays a crucial role in providing pre- and post-cardiac surgery support for children. LCOS remains the main indication, and high PRISM III and VIS scores are valuable predictors of outcomes.

Reoperative aortic root surgery: single-center long-term outcomes and literature review.

Reoperative aortic root surgery has become more and more common over the years and is considered high-risk, with significantly worse outcomes compared to first-procedure root surgery. At our institution, this kind of surgery is frequently performed. The aim of the present review is to describe currently available literature on reoperative surgery on the aortic root in terms of patients' population, indications for surgery and outcomes and to present our center's experience on the matter. A literature review was performed in order to identify pertinent studies. They were then compared and described. We also described preoperative characteristics, operative strategies and outcomes of all the patients who underwent redo aortic root surgery from January 1986 to December 2022 at our center. Our literature review identified 12 pertinent studies, with a total of 16,627 considered patients. The most frequent indications for redo surgery were endocarditis (35.5%), aneurysm, dissection and pseudoaneurysm. Mean cardiopulmonary bypass (CPB) and cross-clamp times were 218 and 152 minutes, respectively. In-hospital mortality was 12%. When analyzing our center's data, 344 procedures were identified. Aortic root dilation was the most frequent indication (36.9%). Mean CPB and cross-clamp times were 218.0±78.8 and 158.2±49.7 minutes, respectively. In-hospital mortality was 9.6%. Survival at 5 and 15 years was 76.1% and 51.4% respectively. Freedom from further aortic reintervention was 88.1% after 5 years and 64.9% after 15 years. Reoperative aortic root surgery is a difficult cardiac procedure which is linked to significantly higher mortality than first-time root replacement. If it is performed by experienced surgeons with a careful preoperative planning its result can still be satisfactory. Our results showed acceptable rates of mortality and reinterventions at follow-up. Endocarditis, however, was linked to worse outcomes.

The use of hyperbaric oxygen for avascular necrosis of the femoral head and femoral condyle: a single centre's experience over 30 years.

Avascular necrosis (AVN) is a rare progressive degenerative disease leading to bone and joint destruction. Patients often require surgical intervention. Femoral AVN is the most common anatomical location. Hyperbaric oxygen treatment (HBOT) has been shown to be effective in AVN. We present data collected from one centre over a 30-year period and compare the results with other published data. A retrospective chart review of all patients receiving HBOT for AVN at Fremantle and Fiona Stanley Hospitals since 1989 was performed. The primary outcome was radiological appearance using the Steinberg score, with secondary outcomes being subjective improvement, the need for joint replacement surgery and rates of complications. Twenty-one joints in 14 patients (14 femoral heads and seven femoral condyles) were treated with HBOT since 1989. Two patients were excluded. Within the femoral head group, nine of the 14 joints (64%) had stable or improved magnetic resonance imaging (MRI) scans post treatment and at six months (minimum); 10 joints (71%) had good outcomes subjectively, three joints required surgical intervention, and three patients developed mild aural barotrauma. Within the femoral condyle group, all five joints had stable or improved post-treatment MRI scans (four had visible improvement in oedema and/or chondral stability), four joints reported good outcomes subjectively, none of the patients required surgical intervention (follow-up > six months). This single centre retrospective study observed prevention of disease progression in femoral AVN with the use of HBOT, comparable to other published studies. This adds to the body of evidence that HBOT may have a significant role in the treatment of femoral AVN.

Development of a checklist framework for kidney transplantation.

Kidney transplantation is the therapy of choice for end-stage kidney disease, and a fast-growing transplant procedure worldwide. Diverse clinical practices for recipients and donors' selection and management between transplant centers hinder the creation and dissemination of an anesthesia-surgical checklist. Components of the anesthesia-surgical checklist were selected after a review of the English literature using PubMed search for donor, recipient and graft protocols and outcomes of existing practices in the field of kidney transplantation. Key elements of the most relevant articles were combined with our own center's experience and formulated into the proposed checklist. The checklist is intended to be used perioperatively, once patient receives an offer. The perioperative checklist centers primarily on the following donor and recipient's factors: (i) Review of the pretransplant candidate workup; (ii) Assessment of donor/graft status; (iii) Hypothermic machine perfusion parameters; (iv) Operating room management; (v) Sign out. The proposed kidney transplant checklist was designed to ensure consistency and completeness of diverse tasks and facilitates team communication and coordination. We present a novel standardized combined anesthesia-surgical checklist framework for kidney transplant aimed at increasing perioperative safety and streamline the perioperative care of recipients. Future validation studies will determine its clinical feasibility and post-implementation efficacy.

Surgical Therapy of Infective Prosthesis Endocarditis following TAVI: A Single Center's Experience.

Infective prosthesis endocarditis (IE) following transcatheter aortic valve implantation (TAVI) presents significant management challenges, marked by high mortality rates. This study reviews our center's experience with surgical interventions for IE in patients post-TAVI, focusing on outcomes, challenges, and procedural complexities, and providing an overview of the limited literature surrounding this subject. This study was executed as a comprehensive retrospective analysis, targeting the clinical outcomes of surgical treatment in patients presenting with PVE following TAVI procedures at our institution. From July 2017 to July 2022, we identified five patients who had previously undergone transfemoral transcatheter aortic valve implantation and were later diagnosed with PVE needing surgery, strictly adhering to the modified Duke criteria. All surgical procedures were reported successful with no intra- or postoperative mortality. Patients were predominantly male (80%), with an average age of 76 ± 8.6 years, presenting mostly with dyspnea (NYHA Class II). The mean follow-up was between 121 and 1973 days, with outcomes showing no occurrences of stroke, myocardial infarction, or major bleeding. One patient expired from unrelated causes 3.7 years post-surgery. The operative and postoperative protocols demonstrated effective disease management with enhanced survival and minimal complications. The surgical treatment of IE following TAVI, though challenging, can be successfully achieved with careful patient selection and a multidisciplinary approach. The favorable outcomes suggest that surgical intervention remains a viable option for managing this high-risk patient group. Our study also highlights the scarce literature available on this topic, suggesting an urgent need for more comprehensive research to enhance understanding and improve treatment strategies. Future studies with larger cohorts are needed to further validate these findings and refine surgical strategies for this growing patient population.

Bringing nutritional ketosis to the table as an option for healing the pediatric brain.

Our core premise is that personalized variations of a ketogenic diet are likely to benefit pediatric patients with neuropsychiatric symptoms across multiple domains. Although pediatric epilepsy is currently a well-accepted indication for a strict ketogenic diet, there is a dearth of knowledge and therefore clinical guidelines upon which to recommend nutritional ketosis for pervasive pediatric conditions such as autism spectrum disorder and ADHD, even when comorbid epilepsy is present. However, there are published cohort studies and current clinical trials implementing medical ketogenic therapies for cognitive impairment, psychiatric comorbidities, motor disability, and even neuroinflammation. As holistic practitioners, it is imperative that we consider the health of a child in its entirety - and additionally offer the ketogenic diet as a therapeutic option when it may be synergistic in treating extra-neurologic diseases such as obesity. While there are uniquely pediatric potential adverse side effects such as linear growth deceleration and micronutrient deficiencies, previous trials in epilepsy and our center's experience have already proven the ketogenic diet to be a low-risk intervention when optimized with appropriate patient monitoring and support.

Proactive consultation of laboratory medicine increased diagnostic rate of multiple myeloma: One single center's 12-year experience.

Multiple myeloma (MM) was one of the hardest cancers to diagnose because of numerous nonspecific symptoms, leading to diagnostic delay. Proactive consultation of laboratory medicine (PCLM) could help timely diagnosis of blood cancers, avoiding diagnostic delay. This study aimed to evaluate the effect of PCLM on diagnosis and outcomes in MM. This retrospective study was conducted in newly diagnosed MM patients from 2011 to 2022. Implementation of PCLM initiated in 2015 with a laboratory-oriented algorithm. The annual diagnostic rate, patient demographics, the time intervals from symptom onset to diagnosis and to treatment, and clinical outcomes were analyzed. A total of 134 patients were newly diagnosed during the study interval. The diagnostic rate increased from 4.65 ± 1.59 to 7.43 ± 1.52 per million patient-visits after implementation of PCLM. The median time interval from symptom onset to diagnosis was significantly shortened after implementation of PCLM (50 days with interquartile range [IQR]: 24-136 days vs 150 days with IQR: 41-385 days, P = .003). Besides, the 1-year survival was significantly higher in patients diagnosed as MM after implementation of PCLM (72.4% vs 51.7%, P = .035). Implementation of PCLM not only increased diagnostic rate of MM and improved outcomes, but also raise awareness for MM and promote multidisciplinary collaboration in healthcare.

The Peripheral Profile of the Chitinase 3-like-1 in Benign Multiple Sclerosis - A Single Centre's Experience.

A limited subgroup of multiple sclerosis (MS) patients present with a longterm disease evolution characterized by a limited disease progression, known as benign MS (BMS). Chitinase 3-like-1 (CHI3L1) levels are sensitive to inflammatory processes and may play a role in the pathogenesis of MS. In this observational, cross-sectional study, we aimed to evaluate the implications of serum CHI3L1 and inflammatory cytokines in BMS patients treated with interferon β-1b for over a decade. We collected serum samples from 17 BMS patients and 17 healthy controls (HC) to measure serum CHI3L1 levels and a Th17 panel of inflammatory cytokines. Serum levels of CHI3L1 were analysed using the sandwich ELISA method and the Th17 panel was assessed using the multiplex XMap technology on a Flexmap 3D Analyzer. Serum CHI3L1 levels did not differ significantly from HC. We identified a positive correlation between CHI3L1 levels and relapses during treatment. Our findings suggest that there are no differences in serum CHI3L1 levels between BMS patients and HC. However, serum CHI3L1 levels are sensitive to clinical inflammatory activity and may be associated with relapses in BMS patients.

Clinical Findings, Bacterial Agents, and Antibiotic Resistance in Children with Spontaneous Peritonitis in Southern Iran: An Academic Tertiary Referral Center's Experience.

Spontaneous bacterial peritonitis (SBP) is a fatal complication of ascites fluid infection. The causes of SBP in children differ from those in adults, and these bacteria are frequently resistant to antibiotics. Therefore, this study investigated the clinical findings, bacterial etiology, and antimicrobial resistance in children with SBP. This study was conducted on all new pediatric ascites patients, who were admitted to the Department of Pediatric Gastroenterology, Namazi Hospital, affiliated with Shiraz University of Medical Sciences (Shiraz, Iran) from 2021 to 2022. Required data such as demographic information, and clinical information such as complete blood count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Gram staining, blood culture by Automated Blood Culture System (BACTEC), and antibiogram of ascites fluids by disc diffusion method were all collected. Finally, the data were statistically analyzed using SPSS Software (version 26). Besides, the t test, Fisher's exact, Mann-Whitney, and Chi square tests were used for data analysis. In all tests, P≤0.05 was considered statistically significant. The present study examined 62 children with ascites of which 18 (29%) had SBP. The median (IQR) age was 2.5 (8.1) years. Thirty-four (54.8%) of the participants were girls. Abdominal pain was the most common clinical manifestation in patients (54%), and there was a significant association between abdominal pain and SBP (P=0.02). In 12 positive ascites fluid cultures, coagulase-negative staphylococci had the highest frequency (25%), followed by Escherichia coli (16.7%). Third-generation cephalosporins had a 25% sensitivity in the total positive cultures. This sensitivity was 33.3% for Gram-negative cultures and 16.6% for Gram-positive cultures. Although third-generation cephalosporins are recommended as the primary antibiotic for the empirical treatment of SBP, the present study found high bacterial resistance. Finally, empirical therapy should be tailored to each region's bacterial resistance features.

Advanced signet ring cell type gastroesophageal cancers in Latin American patients age 40 and below: A summary of one tertiary care center's experience and a review of the literature.

e16069 Background: Gastric Cancer mortality rates in Latin American countries of Central and South America (LA) are among the highest in the world. After observing multiple cases of advanced gastric adenocarcinoma (GA) with signet ring cell differentiation in young immigrants from LA, we sought to understand the prevalence and demographics of young-onset gastric cancer at our institution. Methods: We used the Inova Fairfax Hospital cancer registry to perform a retrospective cohort study by identifying all patients ≤ 40 from 2013-2022 with 1) GA, and 2) all cancers, and comparing the percentage of LA patients in each group. We noted a trend towards high rates of GC in young immigrants of LA six years ago, and now provide an updated analysis. We then reviewed phenotypic characteristics of each tumor, including signet ring cell differentiation, Her-2/Neu overexpression, and H. Pylori status and the time interval between diagnosis and death. Results: From 2013-2022, 21/37 patients (56.8%) ≤ 40 with GA were from LA (Table 1), with the majority from El Salvador. 95% (20/21) of LA patients had tumors with signet ring cell morphology, 88% (14/16) of non-LA patients had tumors with signet ring cell morphology. In comparison, patients that self-identified as “Hispanic/Spanish” made up 8.1% of subjects ≤ 40 with all cancers during the same time period. Conclusions: At our tertiary care center, Stage IV signet ring cell gastric cancer is highly prevalent in young patients from Latin America. Further exploration of epidemiological risk factors is warranted. [Table: see text]

Management of Short Bowel Syndrome With Chronic Intestinal Failure: A Single-Center Experience in Portugal.

Short bowel syndrome with chronic intestinal failure (SBS/CIF) is the inability to maintain protein-energy, fluid, electrolyte, or micronutrient balance due to a short bowel. Although SBS/CIF is rare, its clinical management is complex, challenging, expensive, and time-consuming. This study aimed to analyze a single center's experience with SBS/CIF in adult patients treated with home parenteral nutrition (HPN). A retrospective single-center analysis of all 13 consecutive adult patients with SBS/CIF was included in an HPN program between January 1994 and August 2023. Between 1992 and 2023, 13 patients were included in an HPN program. The primary underlying pathology was acute mesenteric ischemia. The median age of starting HPN was 44 years. Most were subjected to several surgeries of extensive intestinal resection with posterior intestinal reconstruction. Five of the 13 patients died while on HPN with a median duration of 42 months. The causes of death related to HPN were catheter sepsis, endocarditis with cardiac failure, or hepatic failure. One patient died due to underlying pathology: pelvic abscesses and bleeding related to radiotherapy. Eight patients remainalive, with a median time of HPN of 173 months. During the HPN support, the most frequent complications were venous catheter infection and venous territory thrombosis. None of the eight patients alive have hepatic failure. Two patients recently started teduglutide with good tolerance and need a reduction in HPN support. All eight patients have a satisfactory quality of life (parenteral support needs range between five and two nutrition bags per week). Conclusion: Home parenteral nutrition remains the gold standard of SBS/CIF treatment, although teduglutide may reduce HPN needs and complications and provide a better quality of life. Despite the small number of patients, the results shown in this study are not inferior to those in large-volume centers. The existence of the commitment and interest of professionals involved in SBS/CIF at Centro Hospitalar Universitário de Santo António, Portugal, was a fundamental key to achieving those results. A multidisciplinary healthcare group for HPN support can be essential to ensuring these patients' survival and quality of life.

Foresight and futures thinking for international development co‐operation: Promises and pitfalls

AbstractMotivationStrategic foresight is gaining traction for anticipating changes in a volatile, uncertain, complex, and ambiguous (VUCA) world—one which will require different mindsets and approaches. Yet international development co‐operation practitioners have been slow to adopt foresight.PurposeWhat promises and pitfalls should development practitioners consider in order to integrate strategic foresight into their work?Methods and approachWe review the literature on strategic foresight applied to development. We draw on reflections from the articles included in this special issue. We incorporate the International Development Research Centre's experiences and early insights on the use of foresight for development.FindingsStrategic foresight provides tools to anticipate long‐term and potentially disruptive change. To apply the approach effectively, organizations need to understand the debates about foresight. But no one size fits all: organizations must identify where and how foresight can best be used; be clear on its purpose, use, and end‐users; be sensitive to how foresight intersects with broader calls for decolonizing development and the future; and should adapt methods to different sociocultural contexts.Connecting foresight practitioners and international development actors to explore potential synergies between these two worlds offers opportunities to innovate.Policy implicationsTraditional, short‐term strategic planning, and reactive responses to emerging crises, are increasingly ill‐suited to a VUCA world. To be fit for the future, international development actors must consider adding proactive longer‐term anticipatory planning—that accommodates more systematic understanding and appreciation of plausible futures—to reactive responses.

Effect of vagus nerve stimulation on emergency department utilization in children with drug-resistant epilepsy: a retrospective cohort study.

Epilepsy affects approximately 470,000 children in the United States. The estimated median incidence is 50.4 cases per 100,000 persons per year. There are approximately 3.1 million seizure-related emergency department (ED) visits per year among children. Vagus nerve stimulation (VNS) is a treatment option for drug-resistant epilepsy (DRE). While its primary goal is to decrease seizure burden, VNS may decrease seizure intensity and improve quality of life. The authors assessed whether VNS decreased the number of seizure-related ED visits in a cohort of children with DRE. The authors performed a retrospective chart review of pediatric patients (aged 0-21 years) who underwent implantation of a vagus nerve stimulator between January 2009 and January 2020 at the University of Pittsburgh Medical Center Children's Hospital of Pittsburgh. They used paired t-tests to assess differences in the number of ED visits 2 years before versus 2 years after VNS device implantation. Univariable linear regression analyses were used to test associations of preoperative characteristics with change in the number of ED visits following vagus nerve stimulator insertion. This study included 240 patients. Compared with patients without seizure-related ED visits before VNS, patients with ≥ 1 ED visits were younger in age at first VNS surgery (9.5 vs 10.8 years), had a shorter epilepsy duration before VNS surgery (5.8 vs 7.4 years), had a later year of device implantation (2014 vs 2012), and on average took more antiseizure medications (ASMs; 2.4 vs 2.1). There was no significant difference between the total number of seizure-related ED visits pre- versus post-VNS surgery (1.72 vs 1.59, p = 0.50), and no difference in status epilepticus-related visits (0.59 vs 0.46, p = 0.17). Univariable linear regression analyses revealed a mean change in ED visits of +0.3 for each year prior to 2022 and -0.5 for each additional ASM that patients took before vagus nerve stimulator insertion. This single-institution analysis demonstrated no significant change in the number of seizure-related ED visits within 2 years following VNS device implantation. Earlier VNS surgery was associated with more seizure-related ED visits after device insertion, suggesting that medical management and center experience may play a role in decreasing seizure-related ED visits. A greater number of ASMs was associated with fewer seizure-related ED visits after VNS device insertion, suggesting the role of medical management, patient baseline seizure threshold, and caregiver comfort with at-home seizure management.

Tackling of challenging accessory pathways utilizing open window mapping, does it add benefit?

Abstract Introduction 3D electroanatomical mapping is beneficial in accessory pathway ablation for better delineation of the anatomy, less procedure and fluro time, it depends on point-by-point mapping to identify the connection sites of the accessory pathway (AP) to the atria or ventricle, or the site of the AP potential. However, this approach requires an accurate interpretation of the local electrograms. In contrast, open window mapping (OWM) doesn’t need to differentiate the signals site of origin, it is based on an automatic annotation process in which the signals with the highest -dV/dt are annotated at each obtained point irrespective of the cardiac chamber. (1) Few reports describe the additional benefit of such technique in patients with complex congenital heart diseases. (2) Purpose To present our centre experience in using OWM technique in addition to early meets late (EML) algorism in accessory pathway ablation especially in patients with complex congenital heart disease or previous failed ablation trials. Methods We reviewed patients who underwent AVRT ablation at our centre from August 2022 to August 2023 with emphasis on cases mapped using OWM & EML techniques using high density mapping catheters. Demographic data, clinical presentation, resting & tachycardia ECGs, and Echo reports were examined thoroughly, additionally, we revised the 3D maps, ablation details, fluro dose, and outcomes of the procedures. Results Over one year, among 74 patients underwent AVRT ablation, open window mapping was used in 4 patients with manifest preexcitation (Rt posteroseptal in 3 of them & Rt free wall in one patient). Among the four patients: 3 were pediatrics, youngest was 5 years old, 19 Kg, 2 patients had previous failed ablation trials, their Echo reports revealed severe form of Ebstein anomaly with large ASD in the first patient, case 2 had single ventricle physiology with bidirectional Glenn while the two other patients had structurally normal heart (Table). The mapping using the OW & EML techniques confirmed the site of AP breakthrough conduction at Rt posteroseptal area in 3 of them and Rt posterolateral area in the remaining one, ablation resulted in immediate loss of preexcitation with no recurrence in all patients. Average fluro dose was 0.1 Gy which is significantly lower than the average dose in the remaining AVRT cases. Over median follow up period of 9 months, there were no recurrence of the accessory pathways & no complications. Conclusion Open window mapping technique is highly beneficial for accurate & fast mapping of accessory pathways especially in those with complex congenital heart where AP ablation remains considerably more challenging. OWM also added benefit in redo cases as the previous ablation trials hampered manual EGM interpretation. Finally, most of our cases were pediatrics where using high density mapping catheters and contact force ablation catheters appears to be safe and effective.Demographic, ECG, Echo & procedure data3D map & Echo in patient 2

#1716 IgA nephropathy: our center's experience

Abstract Background and Aims IgA Nephropathy (IgAN) is the most common primary glomerulopathy worldwide. In the last years, significant advances have been made in understanding its pathophysiology and developing newer promising treatments. The accuracy of the International Risk-Prediction Tool in IgAN (IRP-IgAN) was already validated. Herein, we retrospectively analysed the relation of this risk score and the kidney outcomes. Method We performed a single center retrospective observational cross-sectional study of patients with histological diagnosis of IgAN between 2015 and 2023 in Centro Hospitalar de Setúbal, aiming to describe the demography, clinical presentation, histological characteristics, treatment and follow up of our cohort. The International Risk-Prediction Tool in IgAN was applied for patient stratification. Results Twenty-eight patients were diagnosed with IgAN in this eight-year period. Mean age was 46 years-old (SD ±12.2) and 71.4% were male. The majority were Caucasian (n = 26) with only two patients of Asian e African descent, respectively. The mean calculated Charlson Comorbidity Index was 1.43 (SD ±1.5). Eighteen patients (64.3%) had known arterial hypertension, diabetes was seen only in 2 patients, obesity in 4 patients, and hepatitis B in 2 patients. No cardiovascular disease or cancer was documented. On presentation, 71.4% (n = 20) had hypertension, 14.3% (n = 4) presented with rapidly progressive renal insufficiency, and 14.3% (n = 4) presented with nephrotic syndrome. Two patients (7.1%) required dialysis on presentation. Also, the mean glomerular filtration rate (GFR) was 55.3 ml/min (SD ±31.9) and mean proteinuria level (protein-to-creatinine ratio) was 2.42g/g (SD ±2.41). Most patients had hematuria (82.1%), C3 consumption was seen in only one patient while 10 patients had isolated higher levels of IgA. Mean time between the first symptoms or documented clinical features and dedicated Nephrology consultation was 2.9 years (SD ±3.78). Regarding the histological data and considering de MEST-C score, 71.4% had mesangial hypercellularity in more than 50% of the glomerulus (M1), 25% had endocapillary hypercellularity (E1), 17% had segmental glomerulosclerosis of at least one glomerulus (S1), 7% had interstitial fibrosis or cortical atrophy in 25-50% of the cortical area (T1) and 11% in more than 50% (T2), 17.9% had crescents in less than 25% of the glomerulus (C1) and 2.6% in more than 25% (C2). Fibrinoid necrosis was noticed in 7.1% of the patients. The presence of IgA in the mesangium on IF was universal and 18 patients (64.3%) had C3 co-stain. Approximately half of the patients (46.4%) were already on angiotensin converting enzyme inhibitor (ACEI) or angiotensin receptor blockers (ARB) by the time of clinical presentation and nearly all (92.9%) by the time the diagnosis was established. SGTL-2 inhibitors were started in 42.9% of the patients. Eight patients (28.6%) started immunosuppression therapy, within a mean time from histological diagnosis of 0.7 years (SD ±1.03). Of those, all of them were on corticosteroids, one patient was additionally under oral cyclophosphamide and another one under mofetil mycophenolate. According to the IRP-IgAN, patients were stratified in low (35.7%), intermediate (10%) and high risk (8%) of kidney disease progression (GFR decline >50%) or ESKD. In a mean time of 0.53 (SD ±0.34) years of follow-up after diagnosis, 8 patients (28.6%) required renal replacement therapy, with 7 choosing hemodialysis and 1 peritoneal dialysis. Six patients lost follow-up. Three patients died a mean time of 1.2 years after diagnosis, one from immunosuppression-related adverse events. We also found an association between higher risk group and progression to ESKD (p < 0.001). Conclusion The IRP-IgAN tool is a useful tool for prediction of kidney disease progression and the need for renal replacement therapy. The supportive care in IgAN even with antiproteinuric approach could be insufficient for patients with high and intermediate risk. The risk progression to ESKD is indeed heterogeneous, and close follow-up of these patients should be guaranteed.

Expanded genetic testing in familial hypercholesterolemia—A single center's experience

ObjectiveAssess the yield of genetic testing for pathogenic variants in ABCG5, ABCG8, LIPA, and APOE in individuals with personal and family histories suggestive of familial hypercholesterolemia. MethodsRetrospective review of patients seen in the Advanced Lipid Disorders Clinic at Johns Hopkins ResultsIn the lipid clinic at a single center during the years 2015–2023, 607 patients underwent genetic testing for familial hypercholesterolemia, of which 263 underwent the expanded genetic testing for sitosterolemia. Eighty-eight patients had genetic testing which included APOE, and 22 patients had testing which included LIPA. Among these, one patient was identified to have a pathogenic variant in APOE and another patient with a pathogenic variant in ABCG5 (0.7 % yield). The frequency of a positive result was double that of a variant of uncertain significance. ConclusionThese data suggest in rare cases expanded testing can provide answers for patients and families with a minimal likelihood of a variant of uncertain significance.