Workup Of Disease Research Articles

Combined pulmonary fibrosis with emphysema in nonsmokers needs connective tissue disease workup: A case report

Combined pulmonary fibrosis and emphysema (CPFE) is a heterogenous lung disease documented in smokers, which includes emphysema in upper lobes and pulmonary fibrosis in lower lobes. CPFE in nonsmokers is rare, and very few literatures are available. In this case report, we have reported an 80-year-old male presented with progressive shortness of breath with fatigability and hypoxia treated as emphysema with inhaled bronchodilators. Response to medical treatment was not satisfactory with worsening of shortness of breath and fatigability. Clinical examination revealed bilateral basal velcro crepitations with resting oxygen saturation was 88% at room air. High-resolution computerized imaging documented emphysema in upper lobes with honeycombing and tractional bronchiectasis in lower lobes. Echocardiography documented pulmonary hypertension with dilated right atrium and ventricle. Connective tissue disease (CTD) panel documented workup positive for polymyositis. We have treated with oxygen supplementation during rest and ambulation, long-acting inhaled bronchodilator medicines, antifibrotic nintedanib, anti-inflammatory methylprednisolone, and pulmonary vasodilator tadalafil. Improvement in cardiopulmonary parameters including in 6-minute walk distance was significant with bronchodilators, mycophenolate mofetil, tadalafil, and antifibrotics.

The time-dependent prognostic value of coronary computed tomography angiography in symptomatic patients

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): State Research Funding for Turku University Hospital. Background Coronary computed tomography angiography (CCTA) is recommended for diagnostic workup of coronary artery disease (CAD) and is known to provide prognostic information. However, it is unknown whether there is time-dependent variation in the prognostic strength of CCTA. Purpose To study the time-varying prognostic value of CCTA in patients with suspected CAD. Methods From two academic medical centers, we identified symptomatic patients who underwent CCTA for suspected CAD. A composite endpoint of all-cause mortality and myocardial infarction was recorded. The prognostic value of non-obstructive or obstructive (≥50%) CAD was assessed by Cox proportional hazard model. The prognostic power of the model according to the cumulative length of follow-up was evaluated by measuring area under the receiver operating characteristic (ROC) curve (AUC) as a function of follow-up time (time-dependent AUC). Results A total of 2662 patients (age 61 ± 10 years, 45% male) were included, with 247 adverse events (9%) during a median follow-up time of 6.9 years (25th–75th percentile 4.9–8.8 years; maximum 13.3 years). Based on CCTA, 804 (30%) patients had no CAD, 963 (36%) had non-obstructive CAD, and 895 (34%) had obstructive CAD. The presence of non-obstructive CAD (adjusted HR 2.24; p = 0.002) or obstructive CAD (adjusted HR 4.42; p<0.001) were independent predictors of adverse outcome. The predictive power of CCTA findings was relatively stable until 10 years of follow-up time, as demonstrated in the Figure showing time-dependent AUC of the adjusted model (solid line) with 95% confidence intervals (dashed lines). A model including only clinical variables is shown for comparison. Conclusion Coronary CTA findings retain their prognostic value in at least 10-year follow-up of symptomatic patients evaluated for suspected CAD.

Clinical manifestations and approach to the management of patients with common variable immunodeficiency and liver disease.

The clinical spectrum of common variable immunodeficiency (CVID) includes predisposition to infections, autoimmune/inflammatory complications and malignancy. Liver disease is developed by a proportion of patients with CVID, but limited evidence is available about its prevalence, pathogenesis and prognostic outcome. This lack of evidence leads to the absence of guidelines in clinical practice. In this study, we aimed at defining the characteristics, course and management of this CVID complication in Spain. Spanish reference centers were invited to complete a cross-sectional survey. Thirty-eight patients with CVID-related liver disease from different hospitals were evaluated by a retrospective clinical course review. In this cohort, abnormal liver function and thrombocytopenia were found in most of the patients (95% and 79% respectively), in keeping with the higher incidence of abnormal liver imaging and splenomegaly. The most common histological findings included nodular regenerative hyperplasia (NRH) and lymphocytic infiltration, which have been associated with portal hypertension (PHTN) leading to a poorer prognosis. Autoimmune/inflammatory complications occurred in 82% of the CVID patients that developed liver disease and 52% of the patients treated with immunomodulators showed a reduction in the liver function tests' abnormalities during treatment. Among the experts that conducted the survey, there was 80% or more consensus that the workup of CVID-related liver disease requires liver profile, abdominal ultrasound and transient elastography. The majority agreed that liver biopsy should be essential for diagnosis. There was 94% consensus that endoscopic studies should be performed in the presence of PHTN. However, there was 89% consensus that there is insufficient evidence on the management of these patients. Liver disease varies in severity and may contribute substantially to morbidity and mortality in patients with CVID. Hence the importance of close follow-up and screening of this CVID complication to prompt early targeted intervention. Further research is needed to evaluate the pathophysiology of liver disease in patients with CVID to identify personalized treatment options. This study emphasizes the urgent need to develop international guidelines for the diagnosis and management of this CVID complication.

Blood biomarkers for Alzheimer's disease in clinical practice and trials.

Blood-based biomarkers hold great promise to revolutionize the diagnostic and prognostic work-up of Alzheimer's disease (AD) in clinical practice. This is very timely, considering the recent development of anti-amyloid-β (Aβ) immunotherapies. Several assays for measuring phosphorylated tau (p-tau) in plasma exhibit high diagnostic accuracy in distinguishing AD from all other neurodegenerative diseases in patients with cognitive impairment. Prognostic models based on plasma p-tau levels can also predict future development of AD dementia in patients with mild cognitive complaints. The use of such high-performing plasma p-tau assays in the clinical practice of specialist memory clinics would reduce the need for more costly investigations involving cerebrospinal fluid samples or positron emission tomography. Indeed, blood-based biomarkers already facilitate identification of individuals with pre-symptomatic AD in the context of clinical trials. Longitudinal measurements of such biomarkers will also improve the detection of relevant disease-modifying effects of new drugs or lifestyle interventions.

Orbital inflammation following COVID-19 vaccination: A case series and literature review

PurposeThe purpose of the study was to report three cases of orbital inflammation following administration of the COVID-19 vaccination, manifesting as Tolosa–Hunt syndrome (THS) and orbital myositis.MethodA retrospective case series and literature review of patients who developed orbital inflammation following a COVID-19 vaccination.ResultsOne patient presented with Tolosa–Hunt syndrome (THS) 14 days following her third (booster) COVID-19 vaccination, one patient developed orbital myositis 10 days following his first COVID-19 vaccination and one patient developed recurrent orbital myositis 1 and 7 days following her second and fourth COVID-19 vaccination. All patients received the Comirnaty vaccine (Pfizer-BioNTech). A thorough systemic autoimmune disease workup in both patients was unremarkable. Two patients had a prior history of orbital inflammation, with previous involvement of other different orbital structures. Characteristic MRI features for each pathology were observed, supporting the clinical presentation of THS and orbital myositis. There was complete resolution of THS following corticosteroids, with no recurrence at 2 months. Meanwhile, one case of orbital myositis self-resolved at 2 months without use of systemic corticosteroids, while the other patient with orbital myositis required treatment with intra-orbital steroid injections and oral corticosteroids.ConclusionOrbital inflammation has been recognised as a rare adverse effect following COVID-19 vaccination. We present a case series of THS and orbital myositis as varied presentations of this entity.

A Case Report of Early-Onset Alzheimer's Disease Using 18F-FDG PET and 18F-FBB PET.

We describe a 40-year-old female patient who presented with sleep disturbance, intermittent headache, and gradual subjective cognitive decline. 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) showed mild FDG hypometabolism in bilateral parietal and temporal lobes. However, 18F-florbetaben (FBB) amyloid PET revealed diffuse amyloid retention in the lateral temporal cortex, frontal cortex, posterior cingulate cortex/precuneus, parietal cortex, and cerebellum. This finding supports the clinical significance of amyloid imaging in diagnostic work-up of early-onset Alzheimer's disease (EOAD).

Ferret Dermatology.

Skin diseases commonly affect pet ferrets, with neoplastic, endocrine, and parasitic diseases being the most common. This review includes clinical presentation, diagnostic workup, and treatment of diseases with a dermatologic presentation in ferrets.

Brain biopsy in neurological disease of unknown etiology: A single-center 12-year retrospective analysis.

There are no international guidelines for brain biopsy in neurological disease of unknown etiology, yet most practicing neurologists will encounter difficult cases in which biopsy is considered. This patient cohort is heterogenous, and it is unclear in which circumstances biopsy is most useful. We performed an audit of brain biopsies reviewed in our neuropathology department from 2010to2021. Of 9,488 biopsies, 331 biopsies undertaken for an undiagnosed neurological disease were identified. Where documented, the commonest symptoms were hemorrhage, encephalopathy, and dementia. 29% of biopsies were non-diagnostic. The most common clinically relevant findings on biopsy were infection, cerebral amyloid angiopathy with or without angiitis, and demyelination. Rarer conditions included CNS vasculitis, non-infectious encephalitis, and Creutzfeldt Jakob Disease. We highlight the value of brain biopsy in the workup of cryptogenic neurological disease despite recent advances in less invasive diagnostics.

Clinico-Radiological Profile of Patients with Connective Tissue Disease (CTD) Associated Interstitial Lung Disease (ILD) At a Tertiary Care Center in India

Interstitial lung diseases (ILDs) are a group of heterogenous disorders characterized by varying degree of fibrosis in lung [1]. Work-up for connective tissue diseases (CTDs) is an important component of evaluation of a patient with ILD. CTDs affect connective tissue in various organs resulting from poorly controlled autoimmune responses, and associated inflammation. Overall ILD has been documented in up-to 15% of patients with CTD, with rates as high as 26% in Systemic Sclerosis (SS) [2]. Lung involvement contributes to mortality in CTDs, and the management of ILDs depends on the presence and severity of underlying CTDs. Hence it is necessary to understand the clinical presentation of CTD-ILDs

Multiple Cranial Neuropathies with Orbital Myositis as an Initial Presentation of Lyme Disease (P9-10.002)

<h3>Objective:</h3> To report a case of Lyme disease presenting with subacute multiple cranial neuropathies and orbital myositis. <h3>Background:</h3> Lyme disease can present with multiple cranial neuropathies. Orbital myositis is not well described as one of the rare complications of Lyme disease. Here, we describe a patient with multiple cranial neuropathies and orbital myositis as an initial manifestation of Lyme disease. <h3>Design/Methods:</h3> A 69-year-old male with a history of hyperthyroidism status post thyroidectomy, presented with a new onset headache, double vision, numbness of the face, and dysphagia. On examination, he had left lower motor neuron facial weakness, left eye proptosis, and findings suggestive of III and VI nerve palsies. Brain MRI with contrast revealed abnormal enhancement along the left V2 and V3 nerves and enhancement of the bilateral III cranial nerve. Abnormal enhancement was also seen at the left orbital apex in addition to enhancement along the left retro-orbital optic nerve. MRI of the orbit showed asymmetric enlargement and subtle enhancement of the left extra orbital muscles with mild orbital fat infiltration, compatible with orbital myositis. Lyme IgG/IgM antibody screen was positive which was confirmed by Lyme immunoblot assay which was also positive for Lyme IgG (5 bands) and IgM (3 bands) antibodies. B2 Glycoprotein IgM was elevated. Cerebrospinal fluid (CSF) analysis revealed lymphocytic pleocytosis and elevated protein. CSF cytology and flow cytometry were negative for malignant cells. TSH, thyroxin, and anti-thyroid peroxidase antibodies were unremarkable. Sarcoidosis, IgG4-related disease, autoimmune, and infectious workups were unrevealing. The patient received IV ceftriaxone with significant improvement and with near resolution of the symptoms and clinical findings after 1 month. <h3>Results:</h3> NA <h3>Conclusions:</h3> Orbital myositis is a rare complication of Lyme disease. <b>Disclosure:</b> Dr. Biso has nothing to disclose. Dr. Philip has nothing to disclose. Dr. Chevula has nothing to disclose. Dr. El-Dokla has nothing to disclose.

Immune mediated colitis: a surgical perspective.

This study aims to review and summarize the current up to date literature that explore the current treatment approaches to immune mediated colitis and the role of surgical specialties in the landscape of management. A narrative review of papers was performed following a literature search through Medline, EMBASE and Cochrane Central databases pertaining to immune mediated colitis as an adverse event of cancer immunotherapy. Current guidelines for the diagnosis and treatment of immune mediated colitis mirror the approach to the workup of inflammatory bowel disease and guided by treating oncology and gastroenterology specialties. Immune mediated colitis however relies on surgical specific skills as a consequence of obtaining a diagnosis as well as in the management of complications that may arise. Immune mediate colitis management has largely been under the purview of medical specialties. This review explores the current landscape of managing immune mediated colitis from a surgical perspective and highlights key areas in which surgeons can engage in the multidisciplinary care of this condition. To facilitate prompt diagnosis and management of immune-mediated colitis, there is an increasing necessity for surgeons to become familiar with the latest multidisciplinary approaches and recommendations.

Fatal Disseminated Coccidioidomycosis in Cirrhosis: A Case Series

PurposeCoccidioidomycosis is endemic to the Southwest United States and Mexico. In this case series we describe 3 cases, occurring in the Southwest United States, of patients with disseminated coccidioidomycosis infection in cirrhosis, all with a miliary pattern present on chest imaging. MethodsThis case series was performed conducting a review of patients’ electronic health records and thorough review of the literature for coccidioidomycosis infection in patients with liver disease. ResultsThree patients with different etiology of liver disease with Model for End-stage Liver Disease – Sodium (MELD-Na) scores >20 had chest imaging findings indicative of a miliary pattern on presentation. Each patient subsequently had extensive infectious disease workup that showed evidence of disseminated coccidioidomycosis. All 3 patients clinically worsened and eventually died. ConclusionsThis case series highlights the severity of disseminated coccidioidomycosis in patients with cirrhosis in an endemic area, as well as potential early clues such as miliary patterns on chest imaging. A review of the literature found a significant connection among potential mechanisms describing why patients with cirrhosis have such adverse outcomes in the setting of disseminated coccidioidomycosis, including cirrhosis-associated immune dysfunction and genetic defects in immune functioning.

Autoimmune Diseases and Retina

Autoimmune diseases are a group of diseases that can result in organ-specific and/or systemic (systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis,...) anatomical deformation and loss of function as a result of the body's immune system attacking its own antigens under the influence of genetic and environmental factors. The eye is a potential target for complications related to autoimmunity, and depending on the severity of the immune response, vision-threatening problems can be observed. Immune complexes accumulate in and around the vessel walls as a result of humoral immunity, in which the autoantibody-related complement system is activated, and cellular immune response can lead to retinal vasculitis, vaso-occlusion, retinal hemorrhage, retinal ischemia, ischemic optic neuropathy, and inflammation of periorbital tissues. Therefore, the role of ophthalmologists in disease management is important in diagnosing, investigating, and treating ocular symptoms in a timely manner. Early diagnosis and treatment can play a critical role to decrease the risk of irreversible immunological damage to the retinal tissue. A multi-disciplinary approach for complete management and evaluation is needed in this disease group. This study aimed to provide a detailed review of the current clinical perspective for the diagnosis, workup, and treatment of autoimmune diseases with retinal manifestations. Systemic lupus erythematosus, Polyarteritis Nodosa, Dermatomyositis, Scleroderma, Wegener's Granulomatosis, Churg-Strauss Syndrome, Takayasu Arteritis, Susac Syndrome, and Nodular Panniculitis are discussed under this heading.

MP75-15 ASSESSING FACTORS CONTRIBUTING TO DISPARITIES IN KIDNEY STONE MANAGEMENT

You have accessJournal of UrologyCME1 Apr 2023MP75-15 ASSESSING FACTORS CONTRIBUTING TO DISPARITIES IN KIDNEY STONE MANAGEMENT Marvin A. Meza Jarquín, Ram S. Basak, David F. Friedlander, Gopal L. Narang, and Davis P. Viprakasit Marvin A. Meza JarquínMarvin A. Meza Jarquín More articles by this author , Ram S. BasakRam S. Basak More articles by this author , David F. FriedlanderDavid F. Friedlander More articles by this author , Gopal L. NarangGopal L. Narang More articles by this author , and Davis P. ViprakasitDavis P. Viprakasit More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003349.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Studies suggest that there is a disproportionately increasing prevalence of kidney stone disease among African American and Hispanic patients in the United States. Furthermore, evidence indicates that disparities exist in the workup, management, and surgical interventions of different diseases based on race, ethnicity and socioeconomic status, among other variables. We sought to explore the potential non-clinical factors that could lead to disparities in the management of patients with symptomatic nephrolithiasis at a tertiary care center serving a mixed urban and non-urban population. METHODS: We retrospectively analyzed consecutive non-established adult patients presenting with symptomatic unilateral nephrolithiasis requiring definitive ureteroscopic stone extraction at a single institution between October 2019 and September 2021. The primary endpoint was time in days from the date of referral to the date of definitive treatment. Other variables included patient demographics, clinical characteristics, need for preoperative decompression, referral source, treatment date in relation to the COVID-19 pandemic, and Area Deprivation Index (ADI) ranking, a validated measure of neighborhood adversity related to education, employment, housing, and income. RESULTS: Of 398 included patients, the mean age was 53 years, 55% female and 75% Caucasian. 47% had private insurance, 40% had government assistance and 13% were uninsured. The majority (73%) of referrals were from the emergency department. 10% of patients had a urinary tract infection on presentation. Renal obstruction was present in 77% of patients with 40% requiring preoperative decompression. The overall mean time from referral to surgery was 29 days (IQR 15-36). Factors associated with significantly longer time to surgery included Hispanic identity (40 days IQR 12-68, p=0.0098) compared to other ethnicities, Medicaid insurance (36 days IQR 17-55, p=0.012) compared to other payer groups and patients within the highest tertile ADI (most disadvantaged) ranking (+8 days, p=0.022) compared to those in the lowest tertile (most advantaged). CONCLUSIONS: In our cohort we demonstrated several non-clinical factors that resulted in a delay to definitive treatment in symptomatic kidney stone patients including Hispanic identity, Medicaid insurance, and most disadvantaged ADI ranking. Recognition of such disparities is the first step to help delineate and eliminate the barriers delaying the care of these vulnerable patients. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e1086 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Marvin A. Meza Jarquín More articles by this author Ram S. Basak More articles by this author David F. Friedlander More articles by this author Gopal L. Narang More articles by this author Davis P. Viprakasit More articles by this author Expand All Advertisement PDF downloadLoading ...

350 A Comparison of Incidental and Symptomatic Unruptured Brain Arteriovenous Malformations in Children

INTRODUCTION: Unruptured brain arteriovenous malformations (AVMs) may present with headaches, seizures, and/or neurologic deficits. A smaller number of cases may be discovered incidentally. These lesions remain incompletely understood due to their sparse reporting. METHODS: We performed a retrospective analysis of patients presenting with brain AVMs from 1998 to 2021 at the University of California, San Francisco. Inclusion criteria included age ≤18 at time of presentation with angiographically-proven unruptured AVM diagnosed postnatally. RESULTS: Of 76 children with unruptured AVMs, 66 (86.8%) presented with headaches, seizures, and/or neurologic deficit. Ten (13.1%) were incidentally discovered through unrelated disease workup (50%), cranial trauma (40%), or research study participation (10%). Compared to symptomatic unruptured AVMs, incidental unruptured AVMs possessed smaller mean nidus maximum diameter (2.82 ± 1.1 vs. 3.98 ± 1.52 cm, p = 0.025) and deep venous drainage proportion (20% vs. 61%, p = 0.036). They also presented at earlier ages (10 ± 5.2 vs. 13.5 ± 4 years, p = 0.043) with longer durations to first treatment (541 ± 922 vs. 196 ± 448 days, p = 0.005). During the period of observation, one patient developed recurring headaches and demonstrated AVM nidus growth. Four AVMs greater than 3 centimeters or in deep location were treated with radiosurgery. Six other AVMs were treated with surgical resection with 2 receiving preoperative embolization. Seven AVMs (70%) were obliterated on last follow-up. Postprocedural complications included 2 transient neurologic deficits following resection and 1 delayed seizure development following radiosurgery. The mean follow-up period was 5.1 ± 5.8 years without any hemorrhage episodes. CONCLUSIONS: A substantial proportion of pediatric patients with unruptured AVMs are discovered incidentally. With earlier presentation and more elementary angioarchitecture than symptomatic unruptured AVMs, these incidental lesions provide a snapshot into AVM natural history before symptom development or rupture.

Scleromalacia Occurring 50 Years after Strabismus Surgery

Scleritis is a group of rare inflammatory diseases caused by an infectious or noninfectious aetiology. It has an incidence of 3.4 patients per 100 000 person-years [1]. It can be divided as anterior and posterior. Noninfectious anterior scleritis is caused by an autoimmune disease in up to 50% of cases, with rheumatoid arthritis and granulomatosis polyangiitis being the most common [1]. Surgeries can also induce it by excessive conjunctival manipulation and cauterisation [2]. It is classified as diffuse, nodular, necrotising with inflammation (called necrotising), or necrotising without inflammation (called scleromalacia perforans). Infectious anterior scleritis can be exogenous (post-traumatic or postsurgical) or endogenous (caused by a systemic infectious disease such as syphilis or tuberculosis) [1], [3]. The treatment depends on the aetiology and the extensive inflammatory and infectious disease workup.

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Haploinsufficiency in SON may affect multiple genes, including those involved in the development and metabolism of multiple organs. Considering the broad spectrum of SON functions, it is to be expected that pathogenic variants in this gene can cause a wide spectrum of clinical symptoms. We present an additional ZTTK syndrome case due to a de novo heterozygous variant in the SON gene (c.5751_5754delAGTT). The clinical manifestations of our patient were similar to those present in previously reported cases; however, the diagnosis of ZTTK syndrome was delayed for a long time and was carried out during the diagnostic work-up of significant chronic liver disease (CLD). CLD has not yet been reported in any series; therefore, our report provides new information on this rare condition and suggests the expansion of the ZTTK syndrome phenotype, including possible liver involvement. Correspondingly, we recommend screening patients with SON variants specifically for liver involvement from the first years of life. Once the CLD has been diagnosed, an appropriate follow-up is mandatory, especially considering the role of SON as an emerging player in cancer development. Further studies are needed to investigate the role of SON haploinsufficiency as a downregulator of essential genes, thus potentially impairing the normal development and/or functions of multiple organs.

Performance of two-dimensional shear wave elastography and transient elastography compared to liver biopsy for staging of liver fibrosis.

Staging of liver fibrosis traditionally relied on liver histology, however transient elastography (TE) and more recently two-dimensional shear wave elastography (2D-SWE) evolved to non-invasive alternatives. Hence, we evaluated the diagnostic accuracy of 2D-SWE assessed by the Canon Aplio i800 ultrasound system using liver biopsy as reference and compared the performance to TE. In total, 108 adult patients with chronic liver disease undergoing liver biopsy, 2D-SWE and TE were enrolled prospectively at the University Hospital Zurich. Diagnostic accuracies were evaluated using the area under the receiver operating characteristic (AUROC) analysis, and optimal cutoff values by Youden's index RESULTS: Diagnostic accuracy of 2D-SWE was good for significant (≥F2; AUROC 85.2%, 95% confidence interval (95%CI):76.2-91.2%) as well as severe fibrosis (≥F3; AUROC 86.8%, 95%CI:78.1-92.4%) and excellent for cirrhosis (AUROC 95.6%, 95%CI:89.9-98.1%), compared to histology. TE performed equally well (significant fibrosis: 87.5%, 95%CI:77.7-93.3%; severe fibrosis: 89.7%, 95%CI:82.0-94.3%; cirrhosis: 96%, 95%CI:90.4-98.4%), and accuracy was not statistically different to 2D-SWE. 2D-SWE optimal cutoff values were 6.5, 9.8 and 13.1 kPa for significant fibrosis, severe fibrosis, and cirrhosis, respectively. Performance of 2D-SWE was good to excellent and well comparable with TE, supporting the application of this 2D-SWE system in the diagnostic workup of chronic liver disease.

Pediatric ophthalmology inpatient consults at a tertiary care children’s hospital

To analyze the pattern of pediatric ophthalmology inpatient consults at a single children's hospital over 5 years. The records of all pediatric ophthalmology consults over a 5-year period were reviewed retrospectively. A total of 1,805 new pediatric inpatient consultations were requested, most commonly for papilledema (14.18%), workup for unknown systemic disease (12.96%), and nonaccidental trauma (8.92%). In 50.86% of consults, an abnormal eye examination was found. When consulted for papilledema or nonaccidental trauma (NAT), we found a positivity rate of 26.56% and 27.95%, respectively. The most common ocular abnormalities noted were orbital/preseptal cellulitis (3.82%), optic disk edema (3.77%), and retinal hemorrhages (3.05%). Over the 5-year period, there was a significant increase in consults to rule out papilledema (P = 0.0001) and for trauma/nonaccidental trauma (P = 0.04) and a decrease in consults for workup of systemic disease (P = 0.03) and to rule out fungal endophthalmitis (P = 0.0007). We found an abnormal eye examination in half of our consults. When consulted for papilledema or nonaccidental trauma (NAT), we found a positivity rate of 26.56% and 27.95%, respectively.

A261 SEVERE ACUTE LIVER INJURY SECONDARY TO WILSON’S DISEASE: A CASE REPORT AND REVIEW OF THE LITERATURE

Abstract Background Wilson’s disease is autosomal recessive and rare (prevalence 1/30000-1/50000) caused by mutations in the ATP7B gene involved in copper excretion. Copper deposition drives hepatic injury, along with neuropsychiatric-ophthalmologic, and hematologic symptoms. Leipzig criteria greater than 4 establishes the diagnosis. Purpose We report a case of severe liver injury secondary to probable Wilson’s disease. Method Literature review of diagnosis, management including emerging therapies was performed using PubMed. Result(s) A 29-year-old otherwise healthy male with no family history of liver disease presented with abdominal pain, jaundice, and severe acute liver injury (ALT 1534 U/L ALP 114 U/L bilirubin 113 umol/L) initially misdiagnosed as hepatitis A in community urgent care. He had worsening liver injury (ALT 1809 U/L bilirubin 411 umol/L), with normal INR and no encephalopathy over an additional 3 weeks and was admitted to our tertiary care centre for further work up. History did not reveal viral prodromes, herbals or natural remedies. CBD oil was the only potential exposure, though longstanding use of the same brand argued against this as a cause. Chronic liver disease workup was negative (viral hepatitides, SARS-CoV-2, alpha-1-antitrypsin, acetaminophen level, iron profile, and comprehensive Mitogen autoantibody panel). Patent vasculature on Doppler US. Liver biopsy showed diffuse lobular inflammation, hepatocyte necrosis, 30% parenchymal involvement, primarily lymphocytes with some eosinophils and plasma cells, and no viral inclusions suggesting acute hepatitis with drugs or viral hepatitis as etiologies. The 24-hour urine copper was elevated at 2.19 umol/d (&amp;lt;0.80). Biopsy copper dry weight 60mcg/g (N&amp;lt;50; &amp;gt;250 diagnostic). Normal ceruloplasmin 0.30g/L and serum copper 25.8 umol/L. MRI brain not suggestive of Wilson’s disease, no Kayser-Fleischer rings on Ophthalmology assessment, and no hemolysis. Given a Leipzig score of 3 suggesting possible Wilson’s disease he was started on penicillamine 1500mg daily. Five weeks later he had serologic (ALT 1061 U/L bilirubin 128 umol/L) improvement, yet elevated elastography at 22kPa IQR 5% likely due to inflammation. Given coverage issues, he was switched to compassionate trientine 500mg BID with further improvement (ALT 347 U/L bilirubin 26 umol/L). Sequencing for ATP7B gene mutations are pending (Blueprint Genetics). Conclusion(s) Wilson’s disease should be considered in those with hepatic or neuropsychiatric symptoms, transaminases in the 1000s or acute liver failure. Treatment is lifelong with typically good prognosis and is fatal if untreated. Treatment options include chelators D-penicillamine (first line, with side effects including proteinuria and worsened neurological symptoms) and trientine (fewer side effects). Zinc prevents copper absorption and can be used in asymptomatic patients. Transplant in acute liver failure and end-stage liver disease is guided by the King’s score. Several novel therapies including gene therapy are in development. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared