Challenging Case Research Articles

Clinical Decision Making in Inflammatory Bowel Disease Mimics: Practice Management from Inflammatory Bowel Disease LIVE.

Since 2009, inflammatory bowel disease (IBD) specialists have utilized "IBD LIVE," a weekly live video conference with a global audience, to discuss the multidisciplinary management of their most challenging cases. While most cases presented were confirmed IBD, a substantial number were diseases that mimic IBD. We have categorized all IBD LIVE cases and identified "IBD-mimics" with consequent clinical management implications. Cases have been recorded/archived since May 2018; we reviewed all 371 cases from May 2018-February 2023. IBD-mimics were analyzed/categorized according to their diagnostic and therapeutic workup. Confirmed IBD cases made up 82.5% (306/371; 193 Crohn's disease, 107 ulcerative colitis, and 6 IBD-unclassified). Sixty-five (17.5%) cases were found to be mimics, most commonly medication-induced (n = 8) or vasculitis (n = 7). The evaluations that ultimately resulted in correct diagnosis included additional endoscopic biopsies (n = 13, 21%), surgical exploration/pathology (n = 10, 16.5%), biopsies from outside the GI tract (n = 10, 16.5%), genetic/laboratory testing (n = 8, 13%), extensive review of patient history (n = 8, 13%), imaging (n = 5, 8%), balloon enteroscopy (n = 5, 8%), and capsule endoscopy (n = 2, 3%). Twenty-five patients (25/65, 38%) were treated with biologics for presumed IBD, 5 of whom subsequently experienced adverse events requiring discontinuation of the biologic. Many patients were prescribed steroids, azathioprine, mercaptopurine, or methotrexate, and 3 were trialed on tofacitinib. The diverse presentation of IBD and IBD-mimics necessitates periodic consideration of the differential diagnosis, and reassessment of treatment in presumed IBD patients without appropriate clinical response. The substantial differences and often conflicting treatment approaches to IBD versus IBD-mimics directly impact the quality and cost of patient care.

Acute myocardial infarction due to giant coronary artery aneurysm and arteriovenous fistula: a challenging case report and review of the literature

BackgroundA coronary artery aneurysm (CAA) is an abnormal dilation of a coronary artery segment often accompanied by coronary artery fistula (CAF), leading to communication between a coronary artery and a cardiac chamber or a part of the coronary venous system. Both CAAs and CAFs can present with symptoms and signs of myocardial ischemia and infarction.Case presentationWe describe the case of a 46-year-old woman with non-ST-elevation myocardial infarction (NSTEMI) caused by a “giant” CAA. Various imaging modalities revealed a thrombus-containing aneurysm located at the right-posterior cardiac border, with established arteriovenous communication with the distal part of left circumflex artery (LCx). After initial treatment with dual antiplatelet therapy, a relapse of pain was reported along with a new increase in troponin levels, electrocardiographic abnormalities, reduced left ventricular ejection fraction (LVEF) and thrombus enlargement. Surgical excision of the aneurysm was favored, revealing its true size of 6 cm in diameter. Τhe aneurysm was excised without complications. The patient remained asymptomatic during follow-up.ConclusionsManagement of rare entities such as “giant” CAAs and CAFs can be challenging. Cases such as this can serve as precedents to facilitate treatment plans and develop consistent recommendations, emphasizing the importance of personalized strategies for future patients.

(1195) - Illuminating the Shadows: Multidetector Computed Tomography as a Guiding Light in a Challenging Case of Myocardial Recovery Under LVAD Support

(1195) - Illuminating the Shadows: Multidetector Computed Tomography as a Guiding Light in a Challenging Case of Myocardial Recovery Under LVAD Support

Is It Primary Carcinoma or Lymphoma Breast: Re-emphasizing the Value of Tissue Diagnosis in a Challenging Case Presenting With Pulmonary Thromboembolism

Abstract Primary lymphoma of the breast is an uncommon entity with a prevalence of 1%–2% of non-Hodgkin’s lymphomas. Most of them are B-cell type (50% of all malignant breast lymphomas). We present the case of a 53-year-old female, who reported with 20 cm × 15 cm gradually progressive lump in the right breast for 2 months, involving the entire right breast. Positron emission tomography scan confirmed a metabolically active mass lesion in the right breast. Trucut biopsy of the lump revealed an infiltrating tumor arranged in diffuse sheets. Tumor cells were large with scant cytoplasm, high N:C ratio, and hyperchromatic nuclei. Immunohistochemistry showed CD20, bcl2, bcl6, and CD10 positive in tumor cells, whereas CD3 and MUM1 were negative. A final opinion of diffuse large B-cell lymphoma-germinal center type was given. The patient was managed with six cycles of chemotherapy with R-CHOP, every 3 weeks. She was followed up for a period of 1 year and remained asymptomatic.

A challenging case of an adamantinoma of fibula with soft tissue mass harboring distinct histopathology.

We present a case of adamantinoma that originated from the fibula and had a large soft tissue component measuring approximately 6cm. Clinical, radiological, and pathological investigations initially suggested that the tumor might be a bone-invading synovial sarcoma. To the best of our knowledge, no other case of fibular adamantinoma with such a large soft tissue component has been reported in the literature.

Bipolar Disorder in Pregnancy: A Challenging Case Managed with Maintenance Electroconvulsive Therapy

IntroductionPregnancy is a high-risk period for major affective disorders and can lead to a destabilizing period for our patients. Standard pharmacological strategies must be carefully evaluated due to potential teratogenic or side effects. We present a case of bipolar disorder type I with challenging-to-control maniac episodes during pregnancy, which has required Electroconvulsive Therapy for its management.ObjectivesPresenting maintenance electroconvulsive therapy (ECT) as a safe and effective therapeutic strategy during pregnancy, with the presentation of a case in which it has been administered every 3 weeks from the second trimester until the baby’s birth at 37 weeksMethodsThis concerns a 28-year-old immigrant woman, married, with a 10-year-old child. She was diagnosed with bipolar disorder type I at the age of 16 when she experienced her first manic episode in her country of origin. Subsequently, during her first pregnancy, she required hospitalization for electroconvulsive therapy (ECT) treatment, with a positive response after a single session. She remained stable for several years without maintenance pharmacological treatment or follow-up until the ninth week of her second pregnancy when she experienced a manic episode requiring hospitalization.ResultsShe was initially treated with Olanzapine and Lorazepam with a positive response, but three weeks later, she was readmitted with a similar episode. These decompensations occurred almost monthly, leading to the consideration of introducing mood stabilizers after the first trimester. However, due to the patient’s severe hyperemesis gravidarum, this stabilizing treatment was ruled out due to the difficulty in controlling its blood levels and the associated risk of intoxication. During the fifth admission at the 20th week of gestation, the decision was made to initiate ECT treatment, which yielded an excellent response and subsequent maintenance.ConclusionsThe indications for electroconvulsive therapy (ECT) during pregnancy are the same as in the rest of adult patients. In individuals with a psychiatric history, it is possible for a relapse of mental illness to occur during pregnancy, although the risk is considerably higher during the postpartum period. ECT is considered an effective and safe treatment option in all three trimesters of pregnancy and the postpartum period. During the informed consent process, patients should be informed about the potential impact of ECT as well as alternative treatment options.Disclosure of InterestNone Declared

TCTAP C-093 “Break the Calcium Rock” - A Challenging Case of Calcified Left Main Bifurcation Lesion With Rotashock and Impella Support in an Elderly Patient

TCTAP C-093 “Break the Calcium Rock” - A Challenging Case of Calcified Left Main Bifurcation Lesion With Rotashock and Impella Support in an Elderly Patient

TCTAP C-029 A Challenging Case of Szabo Technique for Ostial Lesion in a Left Main Trifurcation

TCTAP C-029 A Challenging Case of Szabo Technique for Ostial Lesion in a Left Main Trifurcation

Management of incessant ventricular arrhythmias in a patient with left ventricular assist device: a case report

BackgroundThe implantation of left ventricular assist devices (LVADs) as a bridge to transplantation or as destination therapy in end-stage heart failure patients is frequently complicated by the emergence of ventricular arrhythmias (VAs). These arrhythmias have been implicated in precipitating deleterious clinical outcomes, increased mortality rates and augmented healthcare expenditures.Case PresentationWe present a challenging case of a 49-year-old male with a history of dilated cardiomyopathy who received an LVAD. Post-implantation, the patient suffered from intractable VAs, leading to multiple rehospitalizations and hemodynamic deterioration. Despite exhaustive medical management and electrical cardioversion attempts, the patient’s VAs persisted, ultimately necessitating prioritization for cardiac transplantation.DiscussionThis case highlights the challenges in managing VAs in LVAD patients and the importance of multidisciplinary collaboration. While pharmacological intervention is the initial strategy, catheter ablation may be considered in selected cases when medication is insufficient. In instances of intractable VAs, expeditious listing for heart transplantation as a high-priority candidate is advisable when feasible.

Non-traumatic complete cervical spine dislocation with severe fixed kyphosis: successful multidisciplinary approach to a challenging case

BackgroundTo our knowledge, there is no previous report in the literature of non-traumatic neglected complete cervical spine dislocation characterized by anterior spondyloptosis of C4, extreme head drop, and irreducible cervicothoracic kyphosis.Case presentationWe report the case of a 33-year-old Caucasian man with a 17-year history of severe immune polymyositis and regular physiotherapy who presented with severe non-reducible kyphosis of the cervicothoracic junction and progressive tetraparesia for several weeks after a physiotherapy session. Radiographs, computed tomography, and magnetic resonance imaging revealed a complete dislocation at the C4–C5 level, with C4 spondyloptosis, kyphotic angulation, spinal cord compression, and severe myelopathy. Due to recent worsening of neurological symptoms, an invasive treatment strategy was indicated. The patient’s neurological status and spinal deformity greatly complicated the anesthetic and surgical management, which was planned after extensive multidisciplinary discussion and relied on close collaboration between the orthopedic surgeon and the anesthetist. Regarding anesthesia, difficult airway access was expected due to severe cervical angulation, limited mouth opening, and thyromental distance, with high risk of difficult ventilation and intubation. Patient management was further complicated by a theoretical risk of neurogenic shock, motor and sensory deterioration, instability due to position changes during surgery, and postoperative respiratory failure. Regarding surgery, a multistage approach was carefully planned. After a failed attempt at closed reduction, a three-stage surgical procedure was performed to reduce displacement and stabilize the spine, resulting in correct spinal realignment and fixation. Progressive complete neurological recovery was observed.ConclusionThis case illustrates the successful management of a critical situation based on a multidisciplinary collaboration involving radiologists, anesthesiologists, and spine surgeons.

A challenging case of a pituitary macroadenoma and toxic thyroid adenoma with inappropriate TSH secretion.

Thyroid-stimulating hormone-secreting pituitary adenomas (TSHomas) are rare, accounting for less than 1% of all pituitary adenomas. We present a case of hyperthyroidism secondary to a likely TSHoma and coexisting functional thyroid adenoma. Laboratory errors and familial abnormalities in thyroid function tests were ruled out, and a diagnosis of the toxic thyroid adenoma was confirmed on a thyroid uptake scan. However, the triiodothyronine suppression test was contraindicated due to the patient's cardiovascular disease, and the thyrotropin-releasing hormone stimulation test, measurement of glycoprotein hormone alpha-subunit, and genetic testing were unavailable. Magnetic resonance imaging of the brain revealed a suprasellar pituitary macroadenoma measuring 40 mm × 20.3 mm × 17 mm. The patient was initiated on carbimazole; however, thyroid stimulating hormone and thyroxine levels remained elevated. The patient declined trans-sphenoidal surgery and was treated with radioactive iodine to manage the toxic thyroid adenoma, leading to reduced thyroxine levels and symptom improvement. Unfortunately, the patient passed away before long-acting somatostatin analogs became available. This case highlights the diagnostic and therapeutic challenges involved in managing thyrotoxicosis with dual etiology. Hyperthyroidism can have multiple etiologies, which can coexist in the same patient. Persistent discordant thyroid function tests warrant further investigation. The gold standard for diagnosis of TSHomas remains immunohistochemical analysis of the tumor tissue.

Myxedema with Severe Heart Failure—A Life-Threatening and Challenging Case to Treat: A Case Report and Literature Review

Myxedema with Severe Heart Failure—A Life-Threatening and Challenging Case to Treat: A Case Report and Literature Review

Early and midterm outcomes of EVAR with 34 and 36 mm large endograft sizes: A single tertiary center study

Aim: Endovascular aneurysm repair (EVAR) has become a preferred method for accessing anatomically suitable abdominal aortic aneurysms in recent years. Advances in techniques and materials have led to the management of more challenging cases. Anatomical difficulties in the structure of the aneurysm neck can adversely affect the success of the procedure. In this study, we aimed to evaluate early and midterm outcomes in patients with wide-necked infrarenal abdominal aortic aneurysms treated with 34 mm or 36 mm EVAR endografts. Material and Methods: We evaluated infrarenal abdominal aortic aneurysms treated with 34 mm or 36 mm long EVAR allografts between January 2019 and January 2023 at Ankara Bilkent City Hospital Cardiovascular Surgery Clinic. We included and assessed patients with a neck diameter of 28 mm or greater using follow-up computed tomography angiography (CTA). We evaluated early and midterm morbidity and mortality as well as endovascular complications such as endoleak or migration. Results: A total of 58 patients with wide-neck infrarenal abdominal aortic aneurysms underwent 34 mm or 36 mm EVAR endograft deployment. There was no early mortality. The mean follow-up period was 21.7±6.4 months. Eight patients were found to have endoleaks—four had type 2 endoleaks, two had type 1b endoleaks, one had type 3 endoleak and one had type 1a endoleak. Except for type 2 endoleaks, all patients underwent endovascular reintervention. Conclusion: Our study demonstrated the successful application of 34 mm or 36 mm long endografts to patients with abdominal aortic aneurysms with a wide neck diameter. Regarding the midterm outcomes, standard EVAR procedures with large endografts are feasible and have successful outcomes.

International Alliance of Urolithiasis (IAU) guideline on staghorn calculi management.

The stone burden based management strategy reported in the guidelines published by different associations is well known for a long time. Staghorn calculi, representing the largest burden and most complex stones, is one of the most challenging cases to practicing urologists in clinical practice. The International Alliance of Urolithiasis (IAU) has released a series of guidelines on the management of urolithiasis. To develop a series of recommendations for the contemporary management management of staghorn calculi and to provide a clinical framework for urologists treating patients with these complex stones. A comprehensive literature search for articles published in English between 01/01/1976 and 31/12/2022 in the PubMed, OVID, Embase and Medline database is performed. A series of recommendations are developed and individually graded following the review of literature and panel discussion. The definition, pathogenesis, pathophysiology, preoperative evaluation, intraoperative treatment strategies and procedural advice, early postoperative management, follow up and prevention of stone recurrence are summarized in the present document. A series of recommendations regarding the management of staghorn calculi, along with related commentary and supporting documentation offered in the present guideline is intended to provide a clinical framework for the practicing urologists in the management of staghorn calculi.

Large-Scale Non-convex Stochastic Constrained Distributionally Robust Optimization

Distributionally robust optimization (DRO) is a powerful framework for training robust models against data distribution shifts. This paper focuses on constrained DRO, which has an explicit characterization of the robustness level. Existing studies on constrained DRO mostly focus on convex loss function, and exclude the practical and challenging case with non-convex loss function, e.g., neural network. This paper develops a stochastic algorithm and its performance analysis for non-convex constrained DRO. The computational complexity of our stochastic algorithm at each iteration is independent of the overall dataset size, and thus is suitable for large-scale applications. We focus on the general Cressie-Read family divergence defined uncertainty set which includes chi^2-divergences as a special case. We prove that our algorithm finds an epsilon-stationary point with an improved computational complexity than existing methods. Our method also applies to the smoothed conditional value at risk (CVaR) DRO.

AUC Optimization from Multiple Unlabeled Datasets

Weakly supervised learning aims to make machine learning more powerful when the perfect supervision is unavailable, and has attracted much attention from researchers. Among the various scenarios of weak supervision, one of the most challenging cases is learning from multiple unlabeled (U) datasets with only a little knowledge of the class priors, or U^m learning for short. In this paper, we study the problem of building an AUC (area under ROC curve) optimal model from multiple unlabeled datasets, which maximizes the pairwise ranking ability of the classifier. We propose U^m-AUC, an AUC optimization approach that converts the U^m data into a multi-label AUC optimization problem, and can be trained efficiently. We show that the proposed U^m-AUC is effective theoretically and empirically.

Exploiting Polarized Material Cues for Robust Car Detection

Car detection is an important task that serves as a crucial prerequisite for many automated driving functions. The large variations in lighting/weather conditions and vehicle densities of the scenes pose significant challenges to existing car detection algorithms to meet the highly accurate perception demand for safety, due to the unstable/limited color information, which impedes the extraction of meaningful/discriminative features of cars. In this work, we present a novel learning-based car detection method that leverages trichromatic linear polarization as an additional cue to disambiguate such challenging cases. A key observation is that polarization, characteristic of the light wave, can robustly describe intrinsic physical properties of the scene objects in various imaging conditions and is strongly linked to the nature of materials for cars (e.g., metal and glass) and their surrounding environment (e.g., soil and trees), thereby providing reliable and discriminative features for robust car detection in challenging scenes. To exploit polarization cues, we first construct a pixel-aligned RGB-Polarization car detection dataset, which we subsequently employ to train a novel multimodal fusion network. Our car detection network dynamically integrates RGB and polarization features in a request-and-complement manner and can explore the intrinsic material properties of cars across all learning samples. We extensively validate our method and demonstrate that it outperforms state-of-the-art detection methods. Experimental results show that polarization is a powerful cue for car detection. Our code is available at https://github.com/wind1117/AAAI24-PCDNet.

Abstract 2934: Somatic variant workflow with HiFi sequencing provides new insights in highly challenging cancer cases

Abstract Tumor evolution is a highly heterogeneous process where multiple oncogenic pathways can lead to host defense evasion. Advancements in genome sequencing are allowing us to better understand these processes and their impact. However, critical genomic variations that could be pivotal to the development of tumors may have remained undetected due to technological constraints of short-read sequencing. PacBio HiFi sequencing generates accurate (>99.9%) long reads (>15 kb) with native 5-methylcytosine information that can comprehensively delineate many variations, including ones which were previously inaccessible with short-read sequencing. Unlike standard whole-genome analysis, cancer variant calling must account for somatic variation, where the assumptions of a diploid genome are violated. We have developed and optimized a bioinformatics workflow for somatic variant detection with HiFi sequence data. To validate this pipeline, we sequenced two well-studied cancer cell lines (COLO829, HCC1395) to 60-fold depth and their matched normal lymphoblast cells (40-fold to 60-fold depth) and called all classes of variations (SNVs, INDELS, and structural variants). Next, we compared our calls against the Valle-Inclan (structural variants) and SEQC2 (small variants: SNV/INDEL) datasets. We achieved 92% F1 score for small variants across all variant allele frequencies (VAF) in the HCC1395 experiment. We observed a maintained accuracy (F1=91%) even at lower variant frequencies (10-20), highlighting the ability of HiFi sequencing to detect subclonal mutations. The workflow calls structural variants with high sensitivity, capturing 57/62 (92%) of all previously validated SVs in COLO829 at all VAF. Lastly, we applied our pipeline to five diverse tumor samples that exhibit complex oncogenic phenotypes including homologous recombination deficiency (HRD) and high genomic instability, e.g. unresolved rearrangement breakpoints in repetitive regions and unknown oncogenic drivers when prior sequencing efforts did not provide full clarity as to the molecular drivers of tumorigenesis. Notably, we were able to identify and phase 5mC methylation of promoters together with large-scale structural variants in cancer genes involved in HRD. Taken together, we demonstrated the high accuracy of HiFi reads in resolving somatic variants and its potential to provide novel insights in complex cancer samples. The ability for long reads to resolve complex genomics aberrations and epigenetic markers that underly the tumorigenesis process will become indispensable in the realm of precision oncology. Citation Format: Khi Pin Chua, Ian McLaughlin, Oliver Hofmann, Kym Pham Stewart, Primo Baybayan, Jonathan Bibliowicz, Sean Grimmond, Zev Kronenberg, Michael A. Eberle. Somatic variant workflow with HiFi sequencing provides new insights in highly challenging cancer cases [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 2934.

Abstract 3524: Leveraging ChatGPT for literature-based inference of drug-gene relationships in cancer

Abstract Approximately 5,000 new articles are indexed by PubMed daily, many providing critical insights into novel gene-drug relationships. However, searching and distilling the wealth of biomedical literature to infer specific pharmacogenomic relationships between a gene and a drug poses a significant burden for researchers. Recent advances in large language models, such as ChatGPT, offer a promising solution to tackle this challenge. This study aims to prototype a literature-based inference for drug-gene relationships in the context of cancer using ChatGPT, marking an exploratory effort in this emerging domain. Our approach involves developing an automated pipeline that integrates the Application Programming Interfaces (APIs) of PubMed and ChatGPT, specifically GPT-3.5. Given a gene, a drug, and a disease, the pipeline searches PubMed for relevant articles and extracts their abstracts. Leveraging prompt engineering techniques, we formulated a prompt that facilitates accurate summarization of these abstracts. The output of our pipeline includes three key components: 1) a concise, one-sentence summary elucidating the relationship between the drug-gene pair; 2) a step-by-step explanation of the inference process; and 3) the confidence level associated with the generated summary. Our approach was able to confirm well-known gene-drug relationships in cancer, such as palbociclib and CDK4. We further examined a challenging case of CX-5461, an inhibitor of ribosomal RNA synthesis currently under clinical investigation for various cancers. Until recent evidence emerged in 2021, this drug was mischaracterized as an RNA-Pol I inhibitor, whereas it primarily targets topoisomerase II beta (TOP2B). Notably, our pipeline correctly identified TOP2B as the primary target of CX-5461, despite an extensive body of literature prior to 2021 supporting the RNA-Pol I relationship. To evaluate the sensitivity of our pipeline, we conducted a systematic assessment using a mixture of relevant and irrelevant abstracts. Utilizing bevacizumab, VEGF, and hepatocellular carcinoma as a demonstrating example, we showed that ChatGPT achieved nearly 95% accuracy even when only 30% of the abstracts were relevant to the case. In summary, this pilot research serves as a foundational step towards the utilization of large language models in the field of drug discovery and development. Our ongoing efforts involve the rigorous evaluation of our approach across a diverse spectrum of drug targets and cancer types, as well as the optimization of prompts through state-of-the-art prompt engineering techniques. Citation Format: Yuna Shin, Michael Ning, Li-Ju Wang, Yufei Huang, Yu-Chiao Chiu. Leveraging ChatGPT for literature-based inference of drug-gene relationships in cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 3524.

Two-Stage Total Hip Arthroplasty Management in Advanced Legg-Calvé-Perthes Disease: A Case Report

Introduction: Legg-Calvé-Perthes-Disease (LCPD) most commonly affects boys between the ages of 4 and 8. It is an avascular necrosis of the upper femoral epiphysis. Its etiopathogenesis is unknown. Advanced cases necessitate innovative approaches beyond conservative measures. We report a challenging case involving radical treatment for advanced LCPD already complicated by hip and knee stiffness, managed with a two-stage total hip arthroplasty. Case presentation: We report the case of a 14-year-old with chronic left hip impairment and concurrent knee stiffness due to advanced LCPD. Initial conservative interventions proved ineffective. We decided to opt for a two-stage surgical strategy. The first stage involved femoral head ostectomy, cervico-cephalic prosthesis placement, and soft tissue tenotomy. Subsequent intensive rehabilitation achieved improved joint mobility. The second stage comprised total hip replacement using a ceramic-ceramic prosthesis. At last follow up, a favorable functional outcome was observed, and radiographs demonstrated a well-positioned and osteo-integrated prosthesis. Conclusions: LCPD is a serious condition, and the prognosis is significantly influenced by early diagnosis and appropriate management. In cases of advanced staged LCPD, prosthetic replacement becomes a suitable option, even in younger patients. Despite potential complications, the use of a two-stage approach, integrating surgical intervention and tailored rehabilitation, proved effective in restoring joint function. This case highlights the importance of personalized planning and a staged approach in addressing the multifaceted aspects of LCPD.