Potential Delay In Diagnosis Research Articles

Enhancing brain cancer type prediction through machine learning algorithms and feature selection techniques

Abstract The manual identification of brain cancer types is often fraught with inaccuracies, leading to potential delays in diagnosis and treatment planning. This study presents a novel approach to predict brain cancer types using advanced machine learning (ML) algorithms integrated with sophisticated feature selection techniques. A multi-class classification framework was developed and evaluated, incorporating six ML models: Bernoulli Naive Bayes, K-nearest neighbors classifier, decision tree classifier, Gaussian process classifier (GPC), passive aggressive classifier, and perceptron. To enhance model performance, feature selection methods including the Gini index, mutual information, and principal component analysis (PCA) were employed. A comprehensive case study was conducted to assess the predictive accuracy of these models. The GPC, when trained and validated on features derived via PCA, outperformed other models in terms of predictive accuracy and generalization. Specifically, the dimensions identified by PCA (d1, d2, d3, and d4) were most effective in distinguishing between different brain cancer types. This methodology resulted in a significant improvement across various performance metrics. Compared to the baseline GPC model using all original features, the PCA-enhanced GPC achieved remarkable increases in Accuracy, Precision, Recall, and F1 Score by 294.31%, 22.14%, 294.31%, and 878.18%, respectively. These findings underscore the potential of combining ML algorithms with targeted feature selection techniques to advance the accuracy of brain cancer type prediction, offering substantial benefits for clinical decision-making and patient outcomes.

Multi-modal transformer architecture for medical image analysis and automated report generation

Medical practitioners examine medical images, such as X-rays, write reports based on the findings, and provide conclusive statements. Manual interpretation of the results and report generation by examiners are time-consuming processes that lead to potential delays in diagnosis. We propose an automated report generation model for medical images leveraging an encoder–decoder architecture. Our model utilizes transformer architectures, including Vision Transformer (ViT) and its variants like Data Efficient Image Transformer (DEiT) and BERT pre-training image transformer (BEiT), as an encoder. These transformers are adapted for processing to extract and gain visual information from medical images. Reports are transformed into text embeddings, and the Generative Pre-trained Transformer (GPT2) model is used as a decoder to generate medical reports. Our model utilizes a cross-attention mechanism between the vision transformer and GPT2, which enables it to create detailed and coherent medical reports based on the visual information extracted by the encoder. In our model, we have extended the report generation with general knowledge, which is independent of the inputs and provides a comprehensive report in a broad sense. We conduct our experiments on the Indiana University X-ray dataset to demonstrate the effectiveness of our models. Generated medical reports from the model are evaluated using word overlap metrics such as Bleu scores, Rouge-L, retrieval augmentation answer correctness, and similarity metrics such as skip thought cs, greedy matching, vector extrema, and RAG answer similarity. Results show that our model is performing better than the recurrent models in terms of report generation, answer similarity, and word overlap metrics. By automating the report generation process and incorporating advanced transformer architectures and general knowledge, our approach has the potential to significantly improve the efficiency and accuracy of medical image analysis and report generation.

ENHANCED BRAIN CANCER DETECTION IN MRI SCANS THROUGH TEMPLATE REGRESSION SIAMESE REGIONAL PROPOSED NETWORK FOR SEGMENTATION AND FUZZY LOGIC FUSION OF SEGMENTED REGIONS

Accurate detection and segmentation of brain cancer in MRI scans are critical for effective diagnosis and treatment planning. Traditional methods often struggle with the complexities of tumor morphology and variations in scan quality. Existing detection systems can be slow and may not effectively handle the variability in tumor appearances, leading to potential delays in diagnosis and treatment. To address these challenges, we propose an enhanced detection framework using a Siamese Regional Proposed Network (SRPN). The SRPN integrates template branch and bounding box regression to expedite detection processes. The system utilizes an extended Siamese network to learn the distance between tracklet pairs, capturing the local and global features of tumors. These features are transferred to bidirectional gated recurrent units (GRUs), which generate tracklets and segment them into shorter sub-tracklets based on local distances. The segmented sub- tracklets are then reconnected into longer trajectories using similarities derived from temporal pooling global features. Additionally, fuzzy logic fusion is employed to combine segmented regions for improved accuracy. The SRPN-based framework demonstrated a significant improvement in detection speed and accuracy. Experimental results show an accuracy increase of 12% over traditional methods, achieving 94% accuracy with a detection time reduction of 30%. The system also improved segmentation precision, with a mean Intersection over Union (IoU) score of 85%, compared to 75% in conventional approaches.

The impact of COVID-19 on colorectal cancer in regional Northern Australia and changes to treatment related to distance to care: a retrospective cohort study.

The COVID-19 pandemic has created challenges in the diagnosis and management of colorectal cancer (CRC). It was proposed in regional Northern Australia that the distance to services could further impact cancer outcomes, leading to delayed diagnosis. The authors compared the outcomes of patients prior and during the pandemic; with a focus on whether patients were presenting in the emergency setting with more advanced disease. The distance to treatment was also analysed to see if there was any impact to the management of patients with colorectal cancer. A retrospective analysis of 444 patients who underwent treatment for colorectal cancer over two time periods was examined. Time period 1 (prior to COVID-19); March 2017-July 2019 and time period 2 (during COVID-19); March 2020-July 2022. Only patients with colorectal adenocarcinoma were included if they were primarily treated at a hospital in northern Australia; those with benign pathologies or recurrent disease were also excluded. Data was collected in terms of treatment and outcomes and compared between the two groups. A separate analysis of whether locality affected outcomes and referral times was also performed. In the time period prior to COVID-19, 174 patients' required invasive management, while in the second time period during COVID-19, there were 188 patients managed surgically or endoscopically. Of the patients managed prior to COVID-19 17/174 (9.8%) patients required emergency interventions, during COVID-19 this number increased to 37/188 (19.7%). This difference was deemed to be statistically significant (P =0.008). No substantial difference in cancer staging at presentation was found between the two groups. There was an increase in complication rate found during COVID-19 34.6 vs 25.5% prior to COVID-19 (P=0.046). During COVID-19, the median time between General Practitioner (primary care physician) referral and colonoscopy was actually lower than prior to covid 26.5 vs 36 days (P=0.047). When comparing local to distant patients, we found locally based patients had lower rates of neoadjuvant treatment 18.9 vs 30.4% (P=0.018) and higher rates of open surgery 39.1 vs 26.5%, P =0.012. An increase in time between colonoscopy and outpatient department review (OPD) was seen in patients not from the local area 13 vs 18 days (P =0.006). The authors found during the COVID-19 pandemic a greater proportion of patients were presenting with colorectal cancer that required emergency intervention. This may be due to decreased presentations to general practitioners due to lockdown causing potential delays in diagnosis. The authors did not see more advanced disease in these patients presenting emergently, between the two groups. Further assessment of local patients' vs patients from distant sites, showed difference in how patients were managed but similar outcomes. Our large catchment area with distance to treatment in Northern Australia may further impact the management of colorectal cancer in the future.

Clinico-mycological characteristics and outcomes of rare yeast infections

Unusual fungi, encountered infrequently in practice, present a significant diagnostic challenge, leading to potential delays in diagnosis and treatment. This study aims to describe a number of cases, where infections were caused by rare yeast pathogens. Organisms isolated included rare Candida species, Geotrichum, Lodderomyces and Trichosporon species. The mean duration of the outcome of the patients from microbiological diagnosis was 20 days. A total of 3 patients succumbed to their illness. This study aims to shed light on the varied clinical presentation and outcome of infections caused by rare yeast pathogens.

Visual Loss Due to Optic Nerve Injury with Blunt Trauma: A Case Series

Vision impairment resulting from optic nerve damage poses a significant clinical challenge, often stemming from both direct and indirect traumatic injuries. In this article, we address the complexities involved in diagnosing and managing optic nerve damage, particularly in cases of blunt trauma-induced compression. We highlight the potential delay in diagnosis due to concurrent life-threatening conditions and the difficulties in assessing severely affected patients. Additionally, we present a case series involving three individuals who experienced vision loss secondary to optic nerve compression following blunt trauma. Through this analysis, we underscore the importance of timely recognition and appropriate management strategies in optimizing outcomes for patients with optic nerve injuries.

Demographic and Clinical Profile of Pediatric Uveitis in Delta Region, Egypt

ABSTRACT Purpose Pediatric uveitis poses unique challenges, characterized by difficulties in performing comprehensive examinations, potential delays in diagnosis, and a heightened risk of ocular complications. This study evaluate the etiologic and clinical characteristics of uveitis in children presenting to the Mansoura Ophthalmic Center, Mansoura, Egypt. Methods A cross-sectional observational study was undertaken involving children diagnosed with uveitis attending the uveitis outpatient clinic at Mansoura University Ophthalmic Center. Comprehensive clinical evaluations were carried out, including detailed history taking and exhaustive ophthalmological examinations. Whenever deemed necessary, Spectral Domain Optical Coherence Tomography (OCT) and Fluorescein Fundus Angiography (FFA) were utilized to secure retinal images. An extensive systemic evaluation was also conducted to discern the diverse causes of uveitis among the participants. Results The cohort comprised 63 children, impacting 97 eyes. Bilateral involvement was seen in 54% of cases, with a male predominance of 58.7%. The predominant etiologies of uveitis were presumed trematode-induced (36.7%), Juvenile Idiopathic Arthritis (JIA) accounting for 28.6%, and in 12.7% of cases, the cause remained undetermined. Anterior uveitis emerged as the primary presentation in 79.4% of cases. Regarding visual loss, cataract was the leading cause at 56.4%, followed by vitritis at 38.4%, and macular edema at 20.5%. Conclusion Anterior uveitis was the most frequent presentation in our pediatric cohort. Despite the challenges, the majority of children with uveitis exhibited no significant visual impairment, with most causes of visual loss being reversible.

Recognition, Description, and Variability of Spasticity in Individuals With Multiple Sclerosis and Potential Barriers to Clinician-Patient Dialogue: Results From SEEN-MSS, a Large-Scale, Self-Reported Survey.

The experience with spasticity varies among individuals with multiple sclerosis and spasticity (MSS), as they may not recognize it as spasticity or have the language to describe their symptoms. This can lead to potential delays in diagnosis and treatment. Symptoms and Emotions Exploration Needed in Multiple Sclerosis Spasticity was an online survey completed by 1177 individuals with MSS in 2021. It sought to capture symptoms of spasticity, variability of symptoms, specific spasticity triggers, and how conversations with physicians were initiated. The mean age of the cohort was 56.8 years and it was 78% women. Prior to spasticity onset, 65% of respondents felt minimally prepared or unprepared for possibly developing spasticity and were unaware that spasticity manifests as part of MS. Eighty percent experienced spasticity daily, which was variable in severity and duration. Spasticity was triggered by a range of factors and 90% of those surveyed were unable to predict when it would occur or its severity. Day-to-day variability of spasticity prevented 65% of respondents from doing things they wished to do. Sixty percent were confused by their symptoms, not recognizing them as spasticity. Although 91% reported experiencing muscle spasms, only 69% used "muscle spasms" to describe their symptoms. Other descriptors included "muscle tightness," "stiffness," "cramping," and "pain." After recognizing spasticity, 78% proactively initiated discussions with their physicians, 52% wished they had done so sooner, and 42% delayed the conversation by up to or more than a year. Results emphasize the variable nature of spasticity and the lack of a common language to describe symptoms, underscoring the importance of education, earlier recognition, and customized treatments tailored to the severity and duration of spasticity symptoms.

Time to Treatment Initiation and HIV Viral Suppression in People Diagnosed With HIV-1 During COVID-19 Pandemic in Ex-Aquitaine, France (ANRS CO3 AQUIVIH-NA Cohort-QuAliCOV Study).

The COVID-19 pandemic's impact on initiation and effectiveness of antiretroviral therapy (ART) in people diagnosed with HIV remains unclear. We evaluated critical delays in HIV care in people diagnosed before and during the pandemic in ex-Aquitaine, France. We considered adults diagnosed with HIV-1 in 2018-2021 and enrolled in the ANRS CO3 AQUIVIH-NA and followed them until October 10, 2022 for those diagnosed during the pandemic (April 01, 2020-December 31, 2021) and until March 31, 2020 for historical controls. We compared their characteristics at inclusion and the median time between diagnosis and ART initiation, ART initiation and viral suppression, and diagnosis and virologic, suppression (effective management). Eighty-three individuals were diagnosed during the pandemic versus 188 during the prepandemic period. Median follow-up was 549 (interquartile range: 329-713) days. Populations were similar in sex, age, HIV acquisition mode, hospital type, and clinical characteristics at diagnosis; however, fewer were foreign-born during the pandemic (15.7% versus 33.5%, P = 0.003). The probability of ART initiation, therapeutic success, and effective management was higher in people living with HIV (PLWH) diagnosed during the pandemic in adjusted analyses (hazard ratio [HR]: 2.0; 95% CI: 1.5 to 2.7; HR: 1.7; 95% CI: 1.2 to 2.3; HR: 1.8; 95% CI: 1.3 to 2.6, respectively). Those diagnosed during the pandemic were 2.3 (95% CI: 1.2 to 4.1) times more likely to be virologically suppressed within six months of diagnosis compared with historical controls. Pandemic-related reorganizations may have resulted in newly diagnosed PLWH being prioritized; however, the lower proportion of foreign-born PLWH diagnosed during the pandemic period, likely because of reduced migration and potential delays in diagnosis, may contribute to these preliminary findings.

The Role of Genetic Testing in Avoiding Diagnostic Delays in Inherited Retinal Disease.

To identify and highlight potential delays in diagnosis and improve the characterization of the providers referring individuals affected with suspected IRDs for specialty care, we performed an analysis of the patients with IRDs seen by an ophthalmic genetics specialty service. In addition, we analyzed the diagnostic yield of genetic testing in patients with IRD in our series and compared this information with other previous studies. We analyzed 131 consecutive patients with suspected IRDs referred to an ophthalmic genetics specialty service at a tertiary hospital. Provider referral patterns, delays in diagnosis and the diagnostic yield of genetic testing were evaluated. Mean age in the cohort was 24 years. From the 51 patients that underwent genetic testing, the diagnostic yield was 69%. Of these, genetic testing revealed 51% of patients had an incorrect initial referral clinical diagnosis. The average delay to reach a correct diagnosis was 15 years. Ophthalmologists represented the largest referral base at 80%, followed by neurologists representing 5% of referrals. Pediatric and retinal specialists were the largest referral of ophthalmic subspecialties at 44% and 35%, respectively. A significant number of patients experienced a prolonged delay in reaching a correct diagnosis largely due to a delay in initiating the genetic evaluation and testing process. The initial suspected clinical diagnosis was incorrect in a significant number of cases, revealing that affected patients were potentially denied from appropriate recurrence risk counseling, relevant educational resources, specialty referrals in syndromic cases, and clinical trial eligibility in a timely manner.

Patient Survey Exploring the Burden of Inflammatory Back Pain in Patients With Uveitis.

Background In the UK, diagnostic delays remaina challenge in axial spondyloarthritis (axSpA). Studies have shown that acute anterior uveitis is the most common extra-articular manifestation associated with axSpA. As part of a National Axial Spondyloarthritis Society (NASS) Aspiring to Excellence quality improvement project, this study aimed to ascertain the burden of inflammatory back pain (IBP) in patients attending a uveitis clinic and to establish the number of these patients who had not been referred to a rheumatologist, thereby contributing to the diagnostic delay. The secondary aims were to explore the factors contributing to the diagnostic delay. Methods A 22-question patient survey was created to identify the burden of back pain in patients attending a specialist uveitis clinic at a London NHS Trust. Participants were recruited when attending their clinic appointments. Survey content included patient demographics and whether they had experienced back pain for longer than three months. The Berlin Criteria was used to identify the presence of inflammatory back pain, and it was also ascertained whether participants had a previous diagnosis of axSpA. Participants were asked if they had seen any healthcare professionals regarding their back pain and the total number of consultations they had had with each profession. Results A cohort of 50 patients who attended the uveitis clinic at the Royal Free London NHS Trust completed the survey between February and July 2022. The mean age of the respondents was 52 years with a mean length of time with uveitis of 6.57 years. Of them, 64% were female and 36% were male. Forty per cent (40%) of participants (20 respondents) reported experiencing back pain for more than three months and 12% (six respondents) had a diagnosis of axSpA. Of those who reported back pain for more than three months, the mean age of onset of back pain was 28.6 years. Of the 14 participants (28%) who had back pain and were not diagnosed with axSpA, nine (18%) fulfilled the Berlin criteria for IBP. All participants had seen a GP or allied health professional specifically for their back pain. On average, respondents had seen two allied healthcare professionals, but only 40% (eight) of respondents with back pain had been seen by a rheumatologist. Conclusions In this study, thedata highlights that inflammatory back pain is common in patients with uveitis and themajority of patients with inflammatory back pain had not been referred to a rheumatology service and potentially haveundiagnosed axSpA. Contributing factors to this potential delay in diagnosis include a lack of awareness of axSpA and its presenting features and associated conditions and a lack of onward referral for a specialist rheumatology opinion. This highlights the need for public, patient and healthcare professional education and the development of timely referral pathways to reduce delays in diagnosis.

Delay in peanut allergy diagnosis in the United States

Most commonly, food allergy (FA) symptoms present within the first few years of life. However, these initial concerns may not coincide with the time of an official diagnosis by an experienced healthcare provider (HCP). Potential delays in diagnosis (DD) can result in unwarranted changes in lifestyle or continued accidental exposures and reactions. The purpose of this retrospective study is to determine the delay in FA diagnosis from first reaction and evaluate the factors that may affect this time period in peanut-allergic children.

AN UNUSUAL PRESENTATION OF A PULSATILE NECK MASS

AN UNUSUAL PRESENTATION OF A PULSATILE NECK MASS

The patient journey with NMOSD: From initial diagnosis to chronic condition.

ObjectiveTo better understand the patient experience with neuromyelitis optica spectrum disorder (NMOSD) through the course of the illness.BackgroundNMOSD is a rare autoimmune disorder that causes recurrent inflammatory attacks of the optic nerve, spinal cord, and brain. Knowledge and awareness of NMOSD in the general medical community are often limited, resulting in potential delays in diagnosis and treatment.Design/methodsWe developed a comprehensive 101-question survey to understand the patient's perspective on their journey from initial presentation to present condition. The survey covered basic demographics, symptoms, medical tests used to reach a diagnosis, and the patient's psychosocial responses to their diagnosis. The survey included questions to determine internal consistency in responses. We shared the survey with members of the Neuromyelitis Optica (NMO) Clinic Facebook group and received responses from 151 patients. All data collected were self-reported and presented as summary statistics.ResultsThe majority of survey responses were from patients who were female (83%) and White (76%), Asian (7%), or African American (7%). Initial symptoms of disease included fatigue, pain, stiffness/spasticity, bladder and bowel dysfunction, cognitive/emotional symptoms, and visual disturbances. Initial reactions to NMOSD diagnosis were frequently fear, anxiety, and/or depression. Mean (SD) time to diagnosis was 2.2 (3.2) years. First contact with a medical professional was felt to be not helpful or somewhat helpful for many patients (71%), in part due to uncertain diagnosis and/or treatment. However, once referred to specialists (primarily neurologists), the majority of patients (87%) reported finding a professional who could help. Tests leading to diagnosis included magnetic resonance imaging, lumbar puncture, and blood tests for autoantibodies including aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG). While approximately 30% of patients still felt challenged for a variety of reasons, most patients reported that having a diagnosis and being under the care of a specialist contributed to a comprehensive plan with hope for their future.ConclusionsThe NMOSD patient journey frequently begins with anxiety, fear, and frustration. Finding the right specialist and identifying appropriate screening tests can lead to earlier diagnosis and progression toward better patient outcomes.

The importance for tuberculosis of mitigating economic crises

The importance for tuberculosis of mitigating economic crises

Granulomatous inflammation is less common in delayed-onset Crohn's disease.

Crohn's disease (CD) usually affects younger individuals but delayed-onset disease is not uncommon. We studied the epidemiology, demographic profile, and clinical characteristics of patients with delayed-onset CD (disease onset >50 years) and compared them with CD in younger individuals (disease onset 20-40 years) in a tertiary care center in India. The presenting symptoms, site of involvement, and treatment profile were similar, except for weight loss, which was more often noted in young-onset CD. However, granulomatous inflammation on mucosal biopsy was twice as common in young-onset compared to delayed-onset CD. As it is thus seen less often in delayed-onset CD, this may lead to a potential delay in diagnosis and treatment.

283 Incidence of and Patient Characteristics Associated With Potential Delays in Diagnosis of Spinal Epidural Abscess

Spinal epidural abscess (SEA) is a rare condition with increasing incidence over the past decade, that requires prompt diagnosis and treatment to avoid permanent and devastating neurologic disability. The diagnostic gold standard, magnetic resonance imaging (MRI), may be difficult to obtain emergently. Though many risk factors have been described in case series, diagnostic delays are common and a source of malpractice claims. We sought to describe the incidence of and patient characteristics associated with potential delays in diagnosis of spinal epidural abscess (SEA).

Severe Hyperbilirubinemia Associated With Thyrotoxicosis: Importance of Early Recognition

Abstract Thyroid storm (TS) is a rare and life-threatening condition due to a profound hypermetabolic state, leading to decompensation of homeostasis. It is commonly associated with a precipitating factor such as surgery, trauma, or infection. Occasionally, the clinical presentation may be non-specific, thus causing a potential delay in diagnosis. This could be problematic due to the condition’s high mortality rate, especially if not recognized early. Thyrotoxic jaundice presenting with a pattern of cholestatic hyperbilirubinemia (HBR) has been reported in the literature, although uncommon. We present the case of a 71-year-old woman with unexplained jaundice and direct HBR who was diagnosed with impending TS in the setting of toxic multinodular goiter (TMNG). This is a case of a 71-year-old woman with a remote history of hypothyroidism who presented with acute onset right upper quadrant abdominal pain, jaundice, a non-tender asymmetric nodular large goiter, and bilateral non-pitting leg edema. Ancillaries were significant for total and direct HBR of 4.3 and 3.5 mg/dL, respectively. An abdominal sonogram, abdomen CT and ERCP, all ruled out an obstructive biliary etiology. Unfortunately, the patient developed post-ERCP pancreatitis, with subsequent worsening of direct HBR. TSH was found to be suppressed, free T4 was significantly elevated at 4.3 ng/dL. A Burch-Wartofsky score of >40 was highly suggestive of TS. In addition, elevated thyroglobulin levels ruled out exogenous thyrotoxicosis, the absence of orbitopathy, pretibial myxedema, and negative TRAb pointed towards TMNG as the most likely etiology of hyperthyroidism. This diagnosis was confirmed through neck ultrasound, showing multiple nodules and the absence of high vascularity of the thyroid gland. The patient was managed in the ICU with beta-blockers, methimazole, potassium iodide solution, glucocorticoids, and bile acid sequestrants, leading to satisfactory and significant clinical improvement of thyrotoxicosis and bilirubin levels. Hepatic dysfunction has been described in patients with hyperthyroidism since the nineteenth century. Although the underlying mechanism remains unclear, it may be multifactorial. Different hypotheses have been proposed suggesting that the hypermetabolic state secondary to decompensated hyperthyroidism causes a supply-demand mismatch between hepatic oxygen consumption and hepatic blood flow, decreasing the oxygen tension in the centrilobular region resulting in cholestasis. Furthermore, hepatic hypermetabolism in response to excess thyroid hormone leads to the saturation of the bile flow rate. A possible direct toxic effect of T4 in the hepatocytes has been described although further research is needed. This case highlights the importance of considering decompensated hyperthyroidism as a differential diagnosis of cholestatic HBR.

Rapid Adoption of Telemedicine Along with Emergent Use of Continuous Glucose Monitors in the Ambulatory Care of Young Persons with New-Onset Type 1 Diabetes in the Time of COVID-19: A Case Series.

Aims: The COVID-19 pandemic has caused strain on hospital systems and potential delay in diagnosis of type 1 diabetes (T1D). Outpatient diagnosis and treatment of metabolically stable young persons with new-onset T1D have been shown to be equivalent to inpatient. We describe an approach to outpatient management of newly diagnosed T1D during the COVID-19 pandemic using an interdisciplinary team, telemedicine, and diabetes technologies including rapid implementation of continuous glucose monitoring (CGM). Methods: Following the onset of the COVID-19 pandemic, new-onset cases of T1D were tracked. After laboratory confirmation of diagnosis and metabolic stability, patients and families were referred for ambulatory initiation of insulin therapy and diabetes education. These cases were reviewed using data extracted from the electronic health record, comments from multidisciplinary team members, and cloud-based glucose data. Results: We report on seven young people with new-onset T1D without diabetic ketoacidosis from April to June 2020, during the COVID-19 pandemic. Ages ranged 9-23 years with presenting hemoglobin A1c (HbA1c) values 10-14.5%. Initial evaluation was generally face-to-face, followed by frequent telemedicine visits. Five patients had a family history of T1D. Two patients had access to at-home HbA1c kits prompting evaluation in the absence of symptoms. Four patients required emergency department evaluation. Five patients presented with ketosis. All patients were prescribed CGM at the first visit, most starting within 1 month. Conclusions: Technology is extraordinarily useful for the care of young persons with new-onset T1D in the ambulatory setting during the COVID-19 pandemic. Large observational studies are needed to better understand outcomes of an outpatient, technology-focused approach.

EP536 - Genomic screening identifies individuals at high risk for hereditary transthyretin amyloidosis

The TTR V142I variant associated with hereditary transthyretin amyloidosis (hATTR) is present in up to 4% of African American (AA) and 1% of Hispanic/Latinx (HL) individuals and increases risk for heart failure. Delayed and missed diagnoses could potentiate health disparities in these populations. We evaluated whether population-based genomic screening could effectively identify individuals at risk for hATTR and prompt initiation of risk management. We identified participants of the BioMe Biobank in New York City who received TTR V142I results through a pilot genomic screening program. We performed a retrospective medical record review to evaluate for the presence hATTR-related systemic features, uptake of recommended follow-up, and short-term outcomes. Thirty-two AA (N = 17) and HL (N = 15) individuals received a TTR V142I result (median age 57, 81% female). None had a previous diagnosis of hATTR. Eighteen (56%) had hATTR-related systemic features, including 4 (13%) with heart failure, 10 (31%) with carpal tunnel syndrome, and 10 (31%) with spinal stenosis. Eighteen (56%) pursued follow-up with a cardiologist within 8 months. One person received a diagnosis of hATTR. Thus, we found that the majority of V142I-positive individuals had hATTR-related systemic features at the time of result disclosure, including well-described red flags. Genomic screening can help identify hATTR risk and guide management early on, avoiding potential delays in diagnosis and treatment.