Diagnostic Categories Research Articles

Reclassification of the conventional risk assessment for aging-related diseases by electrocardiogram-enabled biological age

An artificial intelligence (AI)-enabled electrocardiogram (ECG) model has been developed in a healthy adult population to predict ECG biological age (ECG-BA). This ECG-BA exhibited a robust correlation with chronological age (CA) in healthy adults and additionally significantly enhanced the prediction of aging-related diseases’ onset in adults with subclinical diseases. The model showed particularly strong predictive power for cardiovascular and non-cardiovascular diseases such as stroke, coronary artery disease, peripheral arterial occlusive disease, myocardial infarction, Alzheimer’s disease, osteoarthritis, and cancers. When combined with CA, ECG-BA improved diagnostic accuracy and risk classification by 21% over using CA alone, notably offering the greatest improvements in cancer prediction. The net reclassification improvement significantly reduced misclassification rates for disease onset predictions. This comprehensive study validates ECG-BA as an effective supplement to CA, advancing the precision of risk assessments for aging-related conditions and suggesting broad implications for enhancing preventive healthcare strategies, potentially leading to better patient outcomes.

Heterogeneous clinical phenotypes of sporadic early-onset Alzheimer’s disease: a neuropsychological data-driven approach

BackgroundThe clinical presentations of early-onset Alzheimer’s disease (EOAD) and late-onset Alzheimer’s disease are distinct, with EOAD having a more aggressive disease course with greater heterogeneity. Recent publications from the Longitudinal Early-Onset Alzheimer’s Disease Study (LEADS) described EOAD as predominantly amnestic, though this phenotypic description was based solely on clinical judgment. To better understand the phenotypic range of EOAD presentation, we applied a neuropsychological data-driven method to subtype the LEADS cohort.MethodsNeuropsychological test performance from 169 amyloid-positive EOAD participants were analyzed. Education-corrected normative comparisons were made using a sample of 98 cognitively normal participants. Comparing the relative levels of impairment between each cognitive domain, we applied a cut-off of 1 SD below all other domain scores to indicate a phenotype of “predominant” impairment in a given cognitive domain. Individuals were otherwise considered to have multidomain impairment. Whole-cortex general linear modeling of cortical atrophy was applied as an MRI-based validation of these distinct clinical phenotypes.ResultsWe identified 6 phenotypic subtypes of EOAD: Dysexecutive Predominant (22% of sample), Amnestic Predominant (11%), Language Predominant (11%), Visuospatial Predominant (15%), Mixed Amnestic/Dysexecutive Predominant (11%), and Multidomain (30%). These phenotypes did not differ by age, sex, or years of education. The APOE ɛ4 genotype was enriched in the Amnestic Predominant group, who were also rated as least impaired. Cortical thickness analysis validated these clinical phenotypes with dissociations in atrophy patterns observed between the Dysexecutive and Amnestic Predominant groups. In contrast to the heterogeneity observed from our neuropsychological data-driven approach, diagnostic classifications for this same sample based solely on clinical judgment indicated that 82% of individuals were amnestic-predominant, 9% were non-amnestic, 4% met criteria for Posterior Cortical Atrophy, and 5% met criteria for Primary Progressive Aphasia.ConclusionA neuropsychological data-driven method to phenotype EOAD individuals uncovered a more detailed understanding of the presenting heterogeneity in this atypical AD sample compared to clinical judgment alone. Clinicians and patients may over-report memory dysfunction at the expense of non-memory symptoms. These findings have important implications for diagnostic accuracy and treatment considerations.

Diagnostic classification in toxicologic pathology using attention-guided weak supervision and whole slide image features: a pilot study in rat livers.

The diagnostic classification of digitized tissue images based on histopathologic lesions present in whole slide images (WSI) is a significant task that eludes modern image classification techniques. Even with advanced methods designed for digital histopathology, the domain of toxicologic pathology presents challenges in that histopathologic features may be at times complex, subtle, and/or rare. We propose an innovative weakly supervised learning method that leverages minimal annotations, a state-of-the-art self-supervised vision transformer for embedding extraction, and a novel guided attention mechanism that is better suited for heavily imbalanced datasets typical in toxicologic pathology. Our model demonstrates improvements in diagnostic classification and attention heatmap quality over the previously described clustering-constrained-attention multiple-instance learning method on several lesion classes in rat livers (38% improvement in AUC). We also demonstrate how an ensemble of binary classifiers improves interpretability and allows for multiclass classification and the classification of diagnostic regions of interest in each slide. The improved classification performance and higher contrast heatmaps better support toxicologic pathologists' histopathology analysis and will enable more efficient workflows as they are further refined and integrated into routine use.

Blood-based biomarkers suggest prolonged axonal Injury following pediatric mild traumatic brain injury

Pediatric mild traumatic brain injury (pmTBI) affects millions of youth annually but underlying pathophysiology and time for physiological recovery remains unknown. Non-fasting plasma samples were obtained in 59 pmTBI (28 females; age 14.9 ± 2.7) at approximately 7 days and 4 months post-injury and in 41 matched healthy controls (HC: 20 females; age 14.3 ± 2.8). Samples were analyzed for GFAP, NFL, Tau, pTau181 and UCH-L1 protein concentrations in conjunction with a clinical battery. Significant effects of diagnosis (pmTBI > HC) existed at ~ 7 days (p < 0.001; Cohen’s d = 0.72) and ~ 4 months (p = 0.015; Cohen’s d = 0.41) post-injury for NFL. NFL was also elevated in pmTBI with significant alterations to mental status (e.g., post-traumatic amnesia) relative to patients without (p = 0.014; Cohen’s d = 0.77). UCH-L1, GFAP and pTau181 did not differ between groups, but demonstrated negative associations with days post-injury (small to medium effect sizes) suggestive of a more rapid release/clearance. Post-concussive symptoms had the best diagnostic classification accuracy at ~ 7 days, but NFL ranked higher at 4 months post-injury. Preliminary findings highlight dynamic fluctuations in blood-based biomarkers in the first week of pmTBI, with ongoing evidence of protein release (NFL) at 4 months. NFL demonstrated additional promise for delineating injury severity within the spectrum of pmTBI.

Examining ED Utilization and Hospital Admissions among Older Undocumented Immigrants: Insights from a Primary Care County Program.

Limited access to preventive healthcare among undocumented immigrants may increase healthcare needs with age, leading to higher Emergency Department (ED) utilization and hospitalizations. While county programs like My Health LA (MHLA) in Los Angeles County (LAC), California, provide primary care to older undocumented adults, our understanding of the group's specific health issues prompting ED visits and potential legal status differences in ensuing hospital admissions is limited.We compared legal status differences in the likelihood of an ED-originating hospital admission among older immigrant patients in LAC. We examined the top 10 diagnostic categories for undocumented (MHLA and non-MHLA participants) and documented patients to understand the health conditions that bring older immigrants to the ED and those that result in hospital admission. This retrospective study analyzed 239,861 ED encounters from 2016 to 2020 across three LAC safety-net hospitals involving immigrant patients aged 50+. Multivariable mixed-effects models estimated the relationship between patient legal status and odds of ED-originating hospital admission. Undocumented patient encounters, both MHLA (OR=0.75, 95% CI: 0.71-0.78) and non-MHLA (OR=0.88, 95% CI: 0.85-0.91), were less likely to result in ED-originating hospital admissions than documented patient encounters. The top clinical reasons for treat-and-release (i.e., ED visits discharged home) visits and ED-originating hospital admissions among undocumented immigrants were similar to those of their documented counterparts. Older undocumented patients in MHLA were less likely to be admitted following an ED visit. Health programs should be designed for both documented and undocumented patients.

Fibromyalgia syndrome-a bodily distress disorder/somatic symptom disorder?

The debate addressing the classification of chronic widespread pain as a physical disorder (fibromyalgia syndrome) [FMS] or a somatoform disorder according to psychiatric classification systems has continued for decades. The review aims to line out the new perspectives introduced by the 11th version of the International Classification of Diseases (ICD 11) of the World Health Organization (WHO). Critical review of the classification criteria of fibromyalgia syndrome and bodily distress disorder in ICD 11. Fibromyalgia syndrome has been eliminated from the chapter of diseases of the musculoskeletal system and is now included in a chapter "Symptoms, signs, clinical forms, and abnormal clinical and laboratory findings, not elsewhere classified". Previously, the ICD-10 diagnosis of somatoform disorder was often used by mental health care disciplines instead of the label FMS. Somatoform disorders category has been eliminated as a diagnostic category in the ICD-11 and the 5th version Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association (APA) and has been replaced with the new categories of bodily distress disorder (BDD) and somatic symptom disorder (SSD) respectively. For diagnosis, these latter mental disorders require at least one distressing somatic symptom (e.g. pain) plus positive psychobehavioral criteria, namely "excessive thoughts, feelings, or behaviours related to the somatic symptoms or associated health concerns", without the condition that distressing somatic symptoms have to be medically unexplained. We argue that the psychobehavioral criteria of BDD/SSD are imprecisely defined and can be misinterpreted as for "Excessive health concerns" which may occur due to the many uncertainties surrounding FMS or "Excessive time devoted to the symptoms" which may be related to patient self-management strategies.

"Psychiatric oblivion": considerations on the hypothesis of a law.

The introduction of a law on psychiatric oblivion, similar to the recent one for oncological oblivion, presents numerous complexities due to the differences between the two areas of illness, especially in terms of recovery and clinical stability. While a definitive cure is often achievable in oncological diseases, in severe mental disorders, such as schizophrenia or bipolar disorder, complete remission in the absence of therapies is rare. Even in cases of effective treatment response, patients may exhibit subclinical symptoms or cognitive and functional deficits, making the concept of psychiatric oblivion particularly problematic. Some diagnostic categories, such as brief psychotic disorder or postpartum depression, could theoretically benefit from oblivion legislation, given the potentially limited course and frequent absence of relapses. However, for the majority of psychiatric conditions the requirement of a long period of remission without therapy appears difficult to achieve. An alternative could be the introduction of criteria based on the stabilization of maintenance therapy, but this would require a more complex and less easily standardized clinical judgment. Other limitations are the residual vulnerability to relapses, the difficulty in determining a precise medical history and the influence of persistent social stigmatization, which could undermine the effects of oblivion. Therefore, the creation of a law on psychiatric oblivion would require a restrictive and selective approach, focused on specific diagnoses and long-term clinical remission criteria, tailored to the clinical and adaptive peculiarities of mental illness.

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Colorectal cancers (CRCs) from people with biallelic germline likely pathogenic/pathogenic variants in MUTYH or NTHL1 exhibit specific single base substitution (SBS) mutational signatures, namely combined SBS18 and SBS36 (SBS18+SBS36), and SBS30, respectively. The aim was to determine if adenomas from biallelic cases demonstrated these mutational signatures at diagnostic levels. Whole-exome sequencing of FFPE tissue and matched blood-derived DNA was performed on 9 adenomas and 15 CRCs from 13 biallelic MUTYH cases, on 7 adenomas and 2 CRCs from 5 biallelic NTHL1 cases and on 27 adenomas and 26 CRCs from 46 non-hereditary (sporadic) participants. All samples were assessed for COSMIC v3.2 SBS mutational signatures. In biallelic MUTYH cases, SBS18+SBS36 signature proportions in adenomas (mean±standard deviation, 65.6 %±29.6 %) were not significantly different to those observed in CRCs (76.2 % ± 20.5 %, p-value=0.37), but were significantly higher compared with non-hereditary adenomas (7.6 % ± 7.0 %, p-value=3.4 × 10-4). Similarly, in biallelic NTHL1 cases, SBS30 signature proportions in adenomas (74.5 %±9.4 %) were similar to those in CRCs (78.8 % ± 2.4 %) but significantly higher compared with non-hereditary adenomas (2.8 % ± 3.6 %, p-value=5.1 × 10-7). Additionally, a compound heterozygote with the c.1187G>A p.(Gly396Asp) pathogenic variant and the c.533G>C p.(Gly178Ala) variant of unknown significance (VUS) in MUTYH demonstrated high levels of SBS18+SBS36 in four adenomas and one CRC, providing evidence for reclassification of the VUS to pathogenic. SBS18+SBS36 and SBS30 were enriched in adenomas at comparable proportions to those observed in CRCs from biallelic MUTYH and biallelic NTHL1 cases, respectively. Therefore, testing adenomas may improve the identification of biallelic cases and facilitate variant classification, ultimately enabling opportunities for CRC prevention.

Head or skull injury? Consequences of using mistranslated ICD diagnosis category: Multicenter, blinded, randomized controlled analysis.

Emergency care units in Hungary treat approximately 140-180 thousand head injuries of varying se'verity each year. These head injuries are mainly caused by traffic accidents, assaults, or domestic accidents. The outpatient care record contains details about the circumstances and underlying mechanisms of the head injury, the results of physical and imaging examinations, and therapeutic recommendations. The record also contains standardized codes for the diagnoses and the interventions performed, using the BNO (Betegségek Nemzetközi Osztályozása) classification, the Hungarian version of the international diagnostic classification system ICD (International Classification of Diseases). These records are important for financial reasons and for statistical purposes. The injury diagnoses consist of the ICD codes with the related diagnostic categories and in most cases also the corresponding Latin diagnoses describing the injuries sustained. The ICD categories often appear as Hungarian translations of the Latin diagnoses in the detailed Medical Diagnostic Reports on Injuries (MDRI). In Hungary, MDRI reports are prepared by physicians at the request of criminal prosecutors for forensic evaluation. In practice, however, MDRIs are usually based on the primary outpatient records. Head injuries are diagnosed using the codes in ICD Chapter 19, S00-S09. Translation errors may occur when ICD is adapted for different languages, resulting in different applications of certain diagnostic codes. The present study investigates the use and frequency of the ICD-10 code S07.1 in Hungarian MDRIs issued for forensic evaluation. The results of our study show that, due to an inaccurate translation, superficial head injuries (specifically, bruises) are incorrectly coded in Hungary with S07.1, which in ICD-10 is reserved for severe head injuries (crushing injury of the skull).

Effect of gut microbiota changes on cytokines IL-10 and IL-17 levels in liver transplantation patients

BackgroundLiver transplantation (LT) is a critical intervention for individuals with end-stage liver disease; yet, post-transplant problems, especially infections, graft rejection, and chronic liver disease, are often linked to systemic inflammation. Cytokines, small signaling molecules, significantly influence immune responses during and post-liver transplantation. Nonetheless, the intricate relationships among cytokines, immune responses, and the gut microbiota, especially gut dysbiosis, are still inadequately comprehended. Thus, this study aims to identify the gut microbiota (GM) and determine their relationship to cytokines (IL-17 and IL-10) in LT patients, due to their importance in enhancing the recovery rate.ResultThe research included 31 liver transplant (LT) patients from the Gastroenterology Surgical Center at Mansoura University, resulting in the collection of 174 stool and blood samples from all participants. Fourteen bacterial species have been identified in samples collected at three intervals: one week before, one week post, and two weeks post LT. A change in gut microbiota composition was noted, characterized by a rise in potentially pathogenic bacteria such as Enterococci and Enterobacteriaceae (including Escherichia coli and Klebsiella) and a reduction in beneficial bacteria such as Bacteroidetes and Firmicutes. The examination of patient demographic and clinical data revealed no significant correlations between sex, age, or diagnostic categories and gut microbiota composition. The findings of the Multivariate Analysis of Variance (MANOVA) indicated a substantial effect of gut microbiota composition on cytokine levels (IL-10 and IL-17), with all tests producing p-values of 0.001. The assessment of cytokine levels indicated fluctuating variations at several time points following surgery. IL-10 levels in the GM groups exhibited a statistically significant elevation during the second week post-surgery (p = 0.036), suggesting a potential recovery-related anti-inflammatory response. In contrast, IL-17 levels rose in the NI group over time, indicating a transition to a pro-inflammatory condition.ConclusionThis study emphasizes the pivotal role of the gut microbiota in regulating immune responses following transplantation.

Enhancing Liver Nodule Visibility and Diagnostic Classification Using Ultrasound Local Attenuation Coefficient Slope Imaging.

B-mode ultrasound (US) presents challenges in accurately detecting and distinguishing between benign and malignant liver nodules. This study utilized quantitative US local attenuation coefficient slope (LACS) imaging to address these limitations. This is a prospective, cross-sectional study in adult patients with definable solid liver nodules at US conducted from March 2021 to December 2023. The composite reference standard included histopathology when available or magnetic resonance imaging. LACS images were obtained using a phantom-free method. Nodule visibility was assessed by computing the contrast-to-noise ratio (CNR). Classification accuracy for differentiating benign and malignant lesions was assessed with the area under the receiver operating characteristic curve (AUC), along with sensitivity and specificity. The study enrolled 97 patients (age: 62 y ± 13 [standard deviation]), with 57.0% malignant and 43.0% benign observations (size: 26.3 ± 18.9 mm). LACS images demonstrated higher CNR (12.3 dB) compared to B-mode (p < 0.0001). The AUC for differentiating nodules and liver parenchyma was 0.85 (95% confidence interval [CI]: 0.79-0.90), with higher values for malignant (0.93, CI: 0.88-0.97) than benign nodules (0.76, CI: 0.66-0.87). A LACS threshold of 0.94 dB/cm/MHz provided a sensitivity of 0.83 (CI: 0.74-0.89) and a specificity of 0.82 (CI: 0.73-0.88). LACS mean values were higher (p < 0.0001) in malignant (1.28 ± 0.27 dB/cm/MHz) than benign nodules (0.98 ± 0.19 dB/cm/MHz). LACS imaging improves nodule visibility and provides better differentiation between benign and malignant liver nodules, showing promise as a diagnostic tool.

Risk factors and machine learning prediction models for intrahepatic cholestasis of pregnancy

BackgroundIntrahepatic cholestasis of pregnancy (ICP) is a liver disorder that occurs in the second and third trimesters of pregnancy and is associated with a significant risk of fetal complications, including premature birth and fetal death. In clinical practice, the diagnosis of ICP is predominantly based on the presence of pruritus in pregnant women and elevated serum total bile acid. However, this approach may result in missed or delayed diagnoses. Therefore, it is essential to explore the risk factors associated with ICP and to accurately identify affected individuals to enable timely prophylactic interventions. The existing literature exhibits a paucity of studies employing artificial intelligence to predict ICP. Therefore, developing machine learning-based diagnostic and severity classification models for ICP holds significant importance.MethodsThis study included ICP patients and some healthy pregnant women from Jiaxing Maternity and Child Health Care Hospital in China between July 2020 and October 2023. We collected clinical data during their pregnancies and selected the top 11 critical risk factors through univariable and lasso regression analysis. The dataset was randomly divided into training and testing cohorts. Thirteen machine learning techniques, including Random Forest, Support Vector Machine, and Artificial Neural Network, were employed. Based on their various classification performances on the training set, the top five models were selected for internal validation.ResultsThe dataset included 798 participants (300 normal, 312 mild, and 186 severe cases). Through univariable and lasso regression analysis, total bile acid, gamma-glutamyl transferase, multiple pregnancy, lymphocyte percentage, hematocrit, neutrophil percentage, prothrombin time, Aspartate aminotransferase, red blood cell count, lymphocyte count and platelet count were identified as risk factors of ICP. The AUCs of the selected top five models ranged from 0.9509 to 0.9614. The CatBoost model achieved the best performance, with an AUC of 0.9614 (95% confidence interval, 0.9377–0.9813), an accuracy of 0.9085, a precision of 0.8930, a recall of 0.9059, and a F1-score of 0.8981.ConclusionsWe identified risk factors for ICP and developed machine learning models based on these factors. These models demonstrated good performance and can be used to help predict whether pregnant women have ICP and the degree of ICP (mild or severe).

A Retrospective Analysis of Rates of Malingering in a Forensic Psychiatry Practice.

Malingering is defined as the intentional falsification or exaggeration of symptoms for secondary gain. The prevalence of malingering varies widely among different medicolegal contexts, emphasizing the need to identify additional predictive factors when considering the diagnosis. This study measured rates of malingering in a sample of 1,300 subjects from a forensic psychiatry practice located in Lexington, Kentucky. Among those who failed at least three symptom or performance validity scales, odds ratios for malingering were approximately twice as high in subjects with less than a college education (p = .011), those referred by the opposing counsel (p = .001), and those meeting criteria for a mental illness in three or more DSM-5 diagnostic categories (p = .015). Those evaluated for worker's compensation and head injury were more likely to malinger than other case types (p = .028). Men were found to malinger at a higher rate than women (p = .014), and no significant differences were observed based on race. These results indicate that education, gender, psychiatric history, case type, and referral type may be important factors to consider when assessing for malingering.

P-1002. Congenital Syphilis: Are We Doing Too Much?

Abstract Background The resurgence of syphilis and its risks to neonates has been reported nationally. Sixty to ninety percent of infected infants can be asymptomatic at birth. Effective early identification and treatment of congenital syphilis is paramount. The American Academy of Pediatrics (AAP) offers guidelines for categorizing risk of congenital syphilis and outlines recommended and optional testing for completed workup. Literature on adherence to these guidelines is limited. We hypothesized that unnecessary imaging and labs were obtained on infants without an impact in their management. Number of congenital syphilis cases per year and divided by diagnostic category. Methods We conducted a retrospective study of all infants with a diagnosis of congenital syphilis admitted at MemorialCare Miller Children’s and Women’s Hospital, an urban tertiary referral center, from Jan 2017 – Dec 2023 (IRB # MHS 361-23). Infants were subdivided by congenital syphilis diagnostic category. Data collected for infants included completion of long bone X-ray, head ultrasound, MRI brain, ophthalmologic exams, and lumbar puncture with CSF analysis, as well as if management changes were made based off study results and if any of the studies were abnormal. Number of ophthalmology exams ordered for each congenital syphilis diagnostic category. The black checkmark indicates if this study was recommended by the AAP. Results 81 infants were identified in this period. 11 (13.6%) had proven or highly likely, 50 (61.7%) had possible, 14 (17.3%) had likely, and 6 (7.4%) had less likely congenital syphilis. 46 (56.8%) received ophthalmologic exams, all of which did not lead to changes in management. 36 of the 46 ophthalmologic exams (78.3%) were conducted without recommendations from the AAP. 10 out of 19 (52.6%) brain MRIs were ordered without AAP recommendations and did not result in changes in management. 4 out of 62 (7%) long bone x-rays were performed without either AAP recommendation or subsequent changes in management. Similarly, 5 out of 66 (7.6%) lumbar punctures were carried out without adherence to AAP recommendations and did not result in changes in management. 12 out of 15 (80%) head ultrasounds were conducted without AAP recommendation. Number of brain MRIs ordered for each congenital syphilis diagnostic category. The black checkmark indicates if this study was recommended by the AAP. Conclusion Unnecessary labs and imaging were frequently ordered for congenital syphilis work up. Our unit has now undertaken a multi-disciplinary quality improvement project to ensure timely and proper categorization of congenital syphilis risk to ensure appropriate imaging and labs are obtained. Disclosures All Authors: No reported disclosures

An examination of noun and verb naming differences in aphasia: effects of lesion site, aphasia type and the use of static or dynamic stimuli

ABSTRACT Background Anomia has been extensively researched within the aphasia literature and a dissociation in naming nouns and verbs has been used in diagnostic classifications and related to lesion location. However, there is evidence that action naming is more difficult for many clinical populations as well as for healthy speakers. Confrontation naming tests have often been used to evaluate anomia, but static depiction has been considered a potential source of error in evaluations of verb naming, since actions are dynamic. Aims The first aim of this study was to examine the ability to name objects and actions in a stroke population and non-brain damaged controls and to explore naming ability in relation to lesion location and aphasia type (fluent or non-fluent). A second aim was to determine if action naming is facilitated by using dynamic rather than static stimuli. Methods & Procedures A cross-sectional study was carried out, where 19 participants with aphasia after stroke and 19 matched controls were included. Type of aphasia was based on connected speech samples. Naming performance was compared on two Swedish naming tests consisting of line drawings of high frequency nouns and verbs respectively, and a subset of action pictures was compared to a test using video depictions of actions as verb stimuli. Outcomes & Results There was a significant difference between nouns and verbs in 11 of 19 participants with aphasia. Only one participant, with a temporo-occipital lesion, had a substantial noun-verb difference (≥30%). Individual results showed some agreement with the fluent-nonfluent classification. However, at group level, there was no significant difference between scores on action and object naming for participants with aphasia. While only the control group achieved significantly higher scores on object than action naming, response latencies were longer for action than object naming for both groups. There was no difference in action naming performance that could be related to the use of dynamic or static stimuli. Conclusions The results suggest that a dissociation in naming nouns and verbs is common in aphasia. This finding underscores the importance of testing action as well as object naming. Even though there was some agreement with aphasia type, the relationship between noun-verb dissociation, lesion location and aphasia type is not straight forward. The study adds to previous findings suggesting that action naming is more difficult than object naming. The question whether action naming is facilitated by using dynamic stimuli needs to be further investigated.

P-2223. Plasma Microbial Cell-free DNA Next-generation Sequencing can be a Useful Diagnostic Tool in Patients with Osteoarticular Infections

Abstract Background The introduction of shotgun metagenomic sequencing (sMGS) methods that identify the presence of microbial cell-free DNA (mcfDNA) in peripheral blood have shown promising results in various populations of patients. There is a pressing need to evaluate its application for osteoarticular infections (OAIs) in real-world setting. Baseline characteristics of the patients with suspected osteo-articular infections, including demographics, clinical characteristics, diagnosis, and KT results. Methods We retrospectively collected data on 73 adult patients who presented to the Mayo Clinic with suspected OAIs between 2019 and 2023, and for whom mcfDNA sMGS (Karius®, KT) testing was part of their diagnostic workup. We collected data on comorbidities, diagnostics, microbiological workout and its concordance with the KT. The primary objective was to evaluate its clinical impact on OAI diagnoses and management distinguishing into four categories: (1) KT was able to confirm an established diagnosis, (2) KT supported non-ID diagnosis, (3) KT established an unsuspected diagnosis, (4) KT did not add relevant information. Relevant microbiologic studies of patients with unsuspected diagnoses established by the KT (N=5) Results In our cohort KT was performed in 73 patients (Table 1). Among the infected individuals, KT yielded positive results in 22/43 (51.2%) cases. Out of these 22 cases, 11 (50%) showed agreement with conventional diagnostic workup, while in five (22.7%) cases, the KT established an unsuspected diagnosis, improving the diagnostic power from 11/43 (25.6%) to 16/43 (37.2%) (Table 2). Moreover, yielded a negative result in 19/26 (73.1%) patients with non-infectious diagnosis (Figure 1). Native Vertebral Osteomyelitis (NVO) diagnosis (p &amp;lt; 0.001) or OAIs with concomitant presence of endocarditis or endovascular infection (p = 0.005) were statistically associated with a definite, probable, or possible diagnostic certainty of KT result (Table 3). Overall, KT influenced antibiotic therapy in six cases (8.2%). Table 3 Factors associated with diagnostic certainty categories Conclusion This is the first retrospective study aiming to assess the real-world usefulness of the KT on the clinical management of patients with OAIs, with a special focus on NVO. It underscores KT's real-world application in cases where traditional diagnostic methods fall short. In highly complex OAIs cases, KT added 11.6% to the diagnostic power by establishing unsuspected diagnosis in 5 of 43 infective patients. Patients with NVO or OAIs with concomitant endocarditis or endovascular infections particularly benefited from KT testing. Figure 1 Distribution of KT results and their respective outcome according to the final diagnosis of suspected OAIs cases. Disclosures All Authors: No reported disclosures

Fine-Needle Aspiration Biopsy of Adrenal Gland Lesions: The Roles of Image Guidance, Rapid On-Site Evaluation and Additional Tissue Sampling.

An accurate fine-needle aspiration (FNA) diagnosis of adrenal lesions may be challenging. This study was to investigate roles of imaging guidance, rapid on-site evaluation (ROSE) and additional tissue sampling in FNA diagnosis of adrenal lesions. Adrenal FNA cases were retrieved from pathology archive. Patients' demographics, lesion size and location, imaging guidance methods, cytologic diagnoses and histopathologic diagnoses were reviewed and analysed. The study cohort included 72 cases of left (86%) and right (14%) adrenal lesions. Endoscopic ultrasound (EUS) and computed tomography (CT) were used in 47 (65%) and 25 (35%) cases, respectively. Left adrenal lesions were sampled mostly by EUS-FNA (73%), whereas right adrenal lesions by CT-guided FNA (80%). There were no differences between the EUS-FNA and CT-FNA groups in terms of non-diagnostic rate and cytologic diagnostic categories. The non-diagnostic rate and cytologic diagnostic categories were the same between ROSE and non-ROSE groups. In a subset of 18 cases with concurrent core tissue biopsy, a definite diagnosis was rendered in all biopsy cases including three cases with a non-diagnostic or indeterminate cytology diagnosis. Our study demonstrates that FNA has great efficacy for evaluation of adrenal lesions, either via EUS or CT guidance. Incorporation of ROSE evaluation into FNA procedure does not directly affect the performance of FNA biopsy but may help direct additional tissue sampling to salvage the cases with a non-diagnostic or indeterminate cytology diagnosis, increasing diagnostic yield.

The usage of the paris classification system in urine cytology in the diagnosis of non-muscle-invasive bladder cancer: a retrospective single-center study

PurposeThis retrospective single-center study aimed to determine the correlation between The Paris System (TPS) urine cytology classification, cystoscopy findings, and non-muscle-invasive bladder cancer diagnosis. In addition, we sought to identify factors that might explain the abnormal cytology classification in cases in which no malignancy was detected.MethodsA Total of 855 patients evaluated with urine cytology between 2017 and 2020 at Kuopio University Hospital were included. Histological diagnoses and urinalysis results were correlated with cytology (TPS). Chi-squared and Fisher’s exact tests were used to calculate statistical significance.ResultsIn the absence of exophytic tumors on cystoscopy, the risks of bladder cancer was 0.1% for NHGUC, 1.5% for AUC, 22.7% for SHGUC, and 83.3% for HGUC. Positive urinalysis corresponded to lower cytological diagnostic categories in both males and females. A statistically significant difference was observed in males with respect to moderate pyuria, hematuria, and higher cytological categories.ConclusionsThis study provides evidence that a biopsy or follow-up may not be necessary for patients without a prior history of urothelial carcinoma and without exophytic tumors observed on cystoscopy, when the cytological diagnosis is NHGUC or AUC. Furthermore, concurrent hematuria and pyuria may result in a higher cytological classification.

Just-in-time adaptive ecological momentary assessment and ecological momentary interventions for posttraumatic psychopathology in the modern age of technology.

One technique for tailoring interventions and matching evidence-based procedures to idiographic problems is just-in-time adaptive approaches, also referred to as ecological momentary intervention. These technology-based approaches involve real-time delivery of evidence-based skills when most needed, which can be tailored to individual data inputs. The current article reviews just-in-time adaptive ecological momentary assessment (JITA-EMA; Schneider et al., 2023) and ecological momentary interventions (EMIs; Heron & Smyth, 2010) with respect to the field of trauma-related psychopathology in the modern age of technology. We provide a broad, narrative overview. Heterogeneity in posttraumatic psychopathology, posttraumatic psychopathology diagnostic classification models, and applicability of technology are reviewed. Next, we discuss JITA-EMA and EMI frameworks, EMA of posttraumatic psychopathology, EMI outcomes, and JITA-EMA and EMI outcomes. We conclude by discussing clinical application and considering dilemmas, ethical issues, and limitations. Future research directions and potential treatment adaptations and innovations are given. JITA-EMA/Is have the potential to reinforce skill acquisition and uptake in evidence-based treatments if implemented as standalones or in conjunction with established, evidence-based interventions. JITA-EMA and EMIs may eventually inform clinical and research efforts by affording an understanding of how idiographic variability in biopsychosocial factors relates to changes in etiology, course, and treatment outcomes. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

Polygenic risk discriminates Lewy body dementia from Alzheimer's disease.

Lewy body dementia (LBD) shares genetic risk factors with Alzheimer's disease (AD), including apolipoprotein E (APOE), but is distinguishable at the genome-wide level. Polygenic risk scores (PRS) may therefore improve diagnostic classification. We assessed diagnostic classification using AD-PRS excluding APOE (AD-PRSno APOE), APOE risk score (APOE-RS), and plasma phosphorylated tau 181 (p-tau181), in 83 participants with LBD, 27 with positron emission tomography amyloid beta (Aβ)positive mild cognitive impairment or AD (MCI+/AD), and 57 controls. Together AD-PRSno APOE and APOE-RS performed similarly to p-tau181 in discriminating MCI+/AD from controls (area under the curve 76% vs. 79%) and LBD (71% vs. 72%). In LBD, Aβ positivity was significantly associated with APOE-RS, but not with AD-PRSno APOE, or p-tau181. Combining AD-PRSno APOE, APOE-RS, and p-tau181 improved thediscrimination of MCI+/AD from controls (81%) and LBD (75%), and thedetection of Aβ in LBD (82%). Aβ deposition in LBD was associated with APOE, while MCI+/AD was also associated with AD-PRS beyond APOE. AD-PRS explains phenotypic variance not captured by APOE or p-tau181. We investigated Alzheimer's disease (AD) polygenic risk score (PRS), apolipoprotein E (APOE), and plasma phosphorylated tau 181 (p-tau181) to classify AD and Lewy body dementia (LBD). AD-PRS with APOE achieved similar classification accuracy to p-tau181. AD-PRS without APOE significantly contributed to discriminating AD from LBD. Amyloid beta positivity in LBD was associated with APOE but not AD-PRS without APOE or p-tau181. Combining AD-PRS, APOE, and p-tau181 improved diagnostic classification accuracy.