Positive Diagnosis Rate Research Articles

343. DIAGNOSTIC VALUE OF ENDOBRONCHIAL ULTRASOUND-GUIDED TRANSESOPHAGEAL NEEDLE ASPIRATION (EBUS-TENA) IN LESIONS ADJACENT TO BOTH THE TRACHEA/BRONCHUS AND ESOPHAGUS

Abstract Objective To investigate the clinical diagnostic value of endobronchial ultrasound-guided transesophageal needle aspiration (EBUS-TENA) in lesions adjacent to both the trachea/bronchus and esophagus Methods The clinical data of 12 patients who underwent EBUS-TENA from February 2019 to February 2022 were collected. The operative physicians and nurses worked closely with each other and meticulously cared the patients. The vital signs changes were observed and recorded, as well as intraoperative adverse events and the acquired specimens. Results All the 12 patients underwent surgery successfully, and hair-like tissue strips were obtained in each case. There were 8 cases of central lung cancer and 4 cases of mediastinal tumor. The preoperative vital signs scores showed no significant difference with the intraoperative and postoperative scores (P>0.05). A few complications occurred, including 2 case of mild cough, 2 case of nausea and vomiting, with no symptoms of severe cough and dyspnea, haemorrhage, mediastinal infection, pneumothorax, mediastinal emphysema and other complications. Conclusion EBUS-TENA has significant effect in successfully obtaining pathological tissue specimens especially for lesions adjacent to both the trachea/bronchus and esophagus, improving disease positive diagnosis rate, reducing patients discomfort and the risk of surgery.

Clinicopathological features of metastatic melanoma in effusion cytology of serosal cavity

Objective: To investigate the clinical, cytomorphology, immunocytochemical and molecular features of metastatic melanoma in serosal cavity effusion. Methods: Cytological specimens of 14 patients with melanoma in the chest and abdomen were collected from 2017 to 2023, at the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. SOX10, S-100 protein, PRAME, BRAF V600E, HMB45, and Melan A were detected by immunocytochemical methods. Fourteen cases were tested for routine antibody combinations, including Claudin4, HEG1, Calretinin, CD68, etc. Four of the patients had biopsy or surgical samples of metastatic solid lesions of primary sites, and further next-generation sequencing (NGS) or amplification refractory mutation system (ARMS)-PCR molecular test was performed. In addition, 30 cases of serosal effusion samples were collected as control groups (10 cases of benign mesothelial cell reactive hyperplasia, 10 cases of mesothelioma, and 10 cases of metastatic lung adenocarcinoma). Results: Among the 14 cases of melanoma, there were 7 males and 7 females, with ages ranging from 35 to 86 years, and an average age of 57 years, there 10 cases aged ≥50 years. The tumor cells in the serosal effusion varied in morphology and degree of atypia. SOX10 was positive in all 14 cases (14/14), S-100 protein was positive in 10 cases (10/14), PRAME was positive in 12 cases (12/14), BRAF V600E was positive in 10 cases (10/14), HMB45 was positive in 12 cases (12/14), and Melan A was positive in 13 cases (13/14). In 4 patients with histological correlation, the cytological and histological expression of SOX10, BRAF V600E, and PRAME was positive in all 4 cases (4/4); S-100 protein was positive in 2 cases (2/4); and HMB45 and Melan A were positive in 3 cases (3/4). Using NGS or ARMS-PCR, missense mutations of BRAF V600E were detected in all 4 patients; TERT promoter mutations was detected in 1 case; and CDKN2A terminating mutations and MSI1 deletion mutations were detected in the other case. SOX10, S-100, HMB45, Melan A, PRAME and BRAF V600E were all negative in 30 control samples of serosal cavity effusion. Conclusion: By observing the morphology of tumor cells, immunocytochemical test of several combination markers, especially the expression of SOX10, BRAF V600E and PRAME, can help to improve the positive diagnosis rate of melanoma in serous cavity effusion.

The value of histopathologic examination and Xpert (MTB/RIF) assay in diagnosis of cervical lymph node tuberculosis after coarse needle biopsy guided by CEUS: a retrospective analysis of 612 cases

ObjectiveTo investigate the value of histopathological examination (HPE) and Xpert Mycobacterium tuberculosis bacilli/rifampicin (MTB/RIF) assay in diagnosis of cervical lymph node tuberculosis (LN TB) after coarse needle biopsy (CNB).MethodsWe retrospectively analyzed 612 samples obtained from October 2017 to August 2023 from patients suspected cervical LN TB with surgically pathological, microbial culture confirmed, and clinically confirmed cervical lymph node enlargement who received ultrasound-guided CNB assisted by contrast-enhanced ultrasound (CEUS) at our hospital. All specimens were assessed by HPE and the Xpert (MTB/RIF) assay. We analyzed the results to determine the diagnostic value of HPE and Xpert (MTB/RIF) assay in samples taken after CEUS-assisted CNB of LN TB, and to evaluate the safety of CNB.ResultsBased on the comprehensive reference standard established in this study, 532 of 612 patients were diagnosed with cervical LN TB, of which 476 were CNB positive cases, the positive rate of diagnosis was 89.5%。The sensitivity, specificity, positive predictive value, negative and predictive value of HPE were 80.4%, 91.2%, 98.4%, 41.2% respectively, while those of the Xpert MTB/RIF assay were 75.7%, 98.7%, 99.7%, 38.0% respectively. No postoperative complications were noted, and the Clavien–Dindo grade was 2.ConclusionCEUS-assisted CNB has high diagnostic value and is safe for cervical LN TB. The sensitivity of HPE is slightly higher than that of Xpert (MTB/RIF) assay, and the specificity of Xpert (MTB/RIF) assay is higher than that of HPE, so Xpert (MTB/RIF) assay can correct the cervical lymph node tuberculosis with negative HPE.

Clinical and Histopathological Evolution of Acute Intraperitoneal Infection by Streptococcus agalactiae Serotypes Ib and III in Nile Tilapia

Streptococcus agalactiae is a highly invasive bacterium that causes significant economic losses in tilapia aquaculture around the world. Furthermore, it is a pathogen for mammals, including humans, emphasizing its importance in One Health. The aim of this work was to evaluate the evolution of clinical and histopathological lesions caused by acute infection with two serotypes of S. agalactiae. For this, two strains isolated from natural outbreaks in Brazilian aquaculture farms (S13, serotype Ib; S73, serotype III) were used to challenge juvenile Nile tilapia (Oreochromis niloticus) intraperitoneally. Target organ samples were collected ten times, between 1 and 96 h post-infection, for microbiological and histopathological analyses. Anorexia was the first clinical sign and the first death occurred at 24 and 30 h in the fish infected with strains S13 and S73, respectively. Serotype Ib initially caused more pronounced lesions in the nervous system; however, serotype III lesions progressed more aggressively, reaching the same severity as those of serotype Ib. This trend was repeated in the mortality curve after 32 h. These results elucidated the important stages in the pathogenesis of S. agalactiae serotypes Ib and III in tilapia and suggest “tips and tricks” to improve the positive culture rate in the clinical diagnosis of infections in some tissues.

Cutibacterium Species Valvular and Cardiac Device-Related Infective Endocarditis: Contemporary Data From the GAMES Prospective Cohort (2008-2023).

Information on infective endocarditis (IE) caused by Cutibacterium spp. is limited and new Duke-International Society for Cardiovascular Infectious Diseases (ISCVID) criteria have not yet been properly assessed. We examined clinical characteristics, outcomes, and performance of diagnostic tests for Cutibacterium valvular and cardiac implantable electronic device-related IE (CIED-IE). Data corresponding to all episodes of Cutibacterium IE recorded from 2008 to 2023 in a prospective national cohort including 46 Spanish hospitals were examined. Possible IE cases were reassessed using the new criteria. The sensitivity of blood cultures, valvular and CIED cultures, and polymerase chain reaction of the 16S rRNA gene and sequencing (16SPCR) was evaluated. Of 6692 episodes of IE, 67 (1%) were caused by Cutibacterium spp. with 85% affecting men. Of these, 50 were valve-related (45 prosthetic, 5 native) and 17 CIED-related. The new criteria identified 8 additional cases and reclassified 15 as definite IE. Intracardiac complications (abscess, pseudoaneurysm, perforation, or intracardiac fistula) occurred in 23 of 50 (46%) valvular IE episodes, leading to 18% mortality, and up to 40% mortality if surgery was indicated but could not be performed. All CIED-IE cases underwent device removal and no deaths were recorded. Positive diagnosis rates for blood cultures, valve/device cultures, and 16SPCR were 52%, 70%, and 82%, respectively. Cutibacterium IE is a rare yet potentially life-threatening condition that warrants a high index of suspicion in men with endovascular prosthetic material. The new Duke-ISCVID criteria and molecular techniques are useful for its diagnosis. Considering a significant complication rate, cardiac surgery and removal of CIEDs play a key role in reducing mortality.

HIV diagnosis in Equatorial Guinea. Keys to reduce the diagnostic and therapeutic delay

BackgroundIn Equatorial Guinea, only 54 % of people living with HIV know their HIV status. There are no confirmatory or molecular diagnostic techniques for early diagnosis or monitoring of infection in the country. Rapid diagnostic tests can induce false-positive diagnoses if used as a confirmatory technique. Our study aimed to identify the challenges of early HIV diagnosis in Equatorial Guinea by analyzing the rate of false positive diagnoses, diagnostic and therapeutic delays, and treatment failures among those on antiretroviral therapy. MethodsFrom 2019–2022, dried blood from 341 children, adolescents and adults diagnosed in Equatorial Guinea as HIV-positive by rapid diagnostic testing, and from 54 HIV-exposed infants were collected in Bata and sent to Madrid to confirm HIV-infection by molecular (Xpert HIV-1Qual, Cepheid) and/or serological confirmatory assays (Geenius-HIV-1/2, BioRad). HIV diagnostic delay (CD4 <350cells/mm3), advanced disease at diagnosis (CD4 <200cells/mm3) and antiretroviral treatment delay and failure (viraemia >1,000RNA-HIV-1-copies/ml) were also studied after viral quantification (XpertVL HIV-1, Cepheid). ResultsFalse-positive diagnoses were identified in 5 % of analysed samples. HIV infection was confirmed in 90.5 % of previously diagnosed patients in Equatorial Guinea and 3.7 % of HIV-exposed children undiagnosed in the field. Two-thirds of each new HIV patient had delayed diagnosis, and one-third had advanced disease. Treatment delay occurred in 28.3 % of patients, being around four times more likely in adolescents/adults than children. More than half (56 %) of 232 treated patients presented treatment failure, being significantly higher in children/adolescents than in adults (82.9 %/90 % vs. 45.6 %, p < 0.001). ConclusionWe identified some challenges of early HIV diagnosis in Equatorial Guinea, revealing a high rate of false positive diagnoses, diagnostic/treatment delays, and treatment failures that need to be addressed. The implementation of more accurate rapid diagnostic techniques and confirmatory tests, along with improving access to care, treatment, awareness, and screening, would contribute to controlling the spread of HIV in the country.

Genetic Testing for Global Developmental Delay in Early Childhood

Global developmental delay (GDD) is characterized by a complex etiology, diverse phenotypes, and high individual heterogeneity, presenting challenges for early clinical etiologic diagnosis. Cognitive impairment is the core symptom, and despite the pivotal role of genetic factors in GDD development, the understanding of them remains limited. To assess the utility of genetic detection in patients with GDD and to examine the potential molecular pathogenesis of GDD to identify targets for early intervention. This multicenter, prospective cohort study enrolled patients aged 12 to 60 months with GDD from 6 centers in China from July 4, 2020, to August 31, 2023. Participants underwent trio whole exome sequencing (trio-WES) coupled with copy number variation sequencing (CNV-seq). Bioinformatics analysis was used to unravel pathogenesis and identify therapeutic targets. The main outcomes of this study involved enhancing the rate of positive genetic diagnosis for GDD, broadening the scope of genetic testing indications, and investigating the underlying pathogenesis. The classification of children into levels of cognitive impairment was based on the developmental quotient assessed using the Gesell scale. The study encompassed 434 patients with GDD (262 [60%] male; mean [SD] age, 25.75 [13.24] months) with diverse degrees of cognitive impairment: mild (98 [23%]), moderate (141 [32%]), severe (122 [28%]), and profound (73 [17%]). The combined use of trio-WES and CNV-seq resulted in a 61% positive detection rate. Craniofacial abnormalities (odds ratio [OR], 2.27; 95% CI, 1.45-3.56), moderate or severe cognitive impairment (OR, 1.69; 95% CI, 1.05-2.70), and age between 12 and 24 months (OR, 1.57; 95% CI, 1.05-2.35) were associated with a higher risk of carrying genetic variants. Additionally, bioinformatics analysis suggested that genetic variants may induce alterations in brain development and function, which may give rise to cognitive impairment. Moreover, an association was found between the dopaminergic pathway and cognitive impairment. In this cohort study of patients with GDD, combining trio-WES with CNV-seq was a demonstrable, instrumental strategy for advancing the diagnosis of GDD. The close association among genetic variations, brain development, and clinical phenotypes contributed valuable insights into the pathogenesis of GDD. Notably, the dopaminergic pathway emerged as a promising focal point for potential targets in future precision medical interventions for GDD.

Feasibility and Diagnostic Accuracy of Ultrastaging in the Detection of Micrometastases in Sentinel and Non-sentinel Lymph Nodes in Cervical Cancer: A Single-Center Retrospective Study With a Five-Year Follow-Up Period.

Cervical cancer is the fourth most common cause of malignant tumor-related deaths among women in developing nations. Cervical cancer has been estimated to cause 527.600 new cases and 265.700 deaths globally per year. This study aimed to evaluate patients with cervical cancer by ultrastaging all the lymph nodes (LN), sentinel LN (SLN) and non-SLN, to increase the sensitivity of the detection of LN metastases and the diagnostic accuracy in cervical cancer with a five-year follow-up. Thisis a retrospective study of 14 cervical cancer cases from 2017 to 2019 at the Municipal Emergency Clinical Hospital of Timisoara, Romania. The cases were selected based on their high risk of LN involvement but negative intraoperative pathologic LN. After re-evaluating all paraffin block biopsy samples from 29 cases, 14 cases were included in the study, which met all criteria for ultrastaging on surgical biopsy samples. Patients' ages included in the study ranged from 43 to 70 years (median: 57.14 years). According to the International Federation of Gynecology and Obstetrics (FIGO) staging, the majority of the patients were in stage IB: seven cases (50%). The study revealed a positive correlation between patient age and FIGO staging, with Pearson's correlation coefficient of 0.707 and a p-value of less than 0.05, indicating that older patients were more likely to be diagnosed with a higher FIGO stage. The mean follow-up was 34.5 months, and the median follow-up was 36 months (range: 6-60 months). We obtained 167 nodes, with a mean of 11.92 nodes/case. Twenty-one LN were found to be positive with the ultrastaging method. We detected 11 LN with macrometastases (MAC) (52.38%), seven with micrometastasis (MIC) (33.3%), and three with tumor cell islets (14.4%). That would be 13% of newly diagnosed ultrastaging cases as positive nodes.This ultrastaging method detected nodal MIC in eight (57.1%) out of the 14 patients, who initially tested negative for LN involvement using the routine Hematoxylin and Eosin (HE) method. The detection of micrometastases in these patients underscored the superior sensitivity of ultrastaging, which was further highlighted by the subsequent relapse of four (28.57%) out of these eight patients. The study also found no correlation between the FIGO standardization and the number of MIC found in these patients. Predicting cervical LN metastasis (LNM) is crucial for improving survival rates and reducing recurrence. Very few small cohort studies used an ultrastaging method to assess non-SLNs; most of them only assessed SLNs. We showed in our study that the ultrastaging method, both in the case of SLN and non-SLN, is superior compared with H&E analysis, with a 13% rate of new positive nodule diagnosis. Metastatic involvement of non-SLN was found in over 50% of all cases (8/14) according to the ultrastaging method. Additionally, our study confirms that the sensitivity of SLN ultrastaging is high for the presence of both MIC and MAC in SLN pelvic LN. As a result, we feel that ultrastaging is the most effective method for SLN analysis in patients with early-stage cervical cancer, and bilateral detection is preferable, significantly reducing false-negative results. The routine use of SLN along with ultrastaging would lead to more accurate surgical staging and better oncological follow-up of cases.

Ensuring that ingested fishbones that migrate to the neck are located, diagnosed, and removed early.

The aim of this retrospective study was to explore the clinical characteristics of and diagnostic and therapeutic strategies for the removal of fish bones that migrate to the neck. We reviewed the clinical data of 30 patients over the past 12years who underwent neck surgery in our otorhinolaryngology department for the migration of fish bones from the throat. The location of fish bones and the positivity rate of different examination methods (neck CT and B-ultrasound) were evaluated statistically. The diagnosis and treatment strategy for fish bone migration to the neck was also summarized. A total of 24 patients had a history of foreign body ingestion. The duration from foreign body ingestion to the appearance of symptoms in the neck ranged from 26 to 151 days, with a median of 50days (interquartile range, 32-86days). Among the 24 patients with fish bones located in the front or side of the neck, 50% (12/24) and 100% (24/24) of whom had positive neck CT and B-ultrasound results, respectively. Additionally, for 6 patients with fish bones in the retropharyngeal space, the positive rate for neck CT was 100%, whereas neck B-ultrasound showed negative results due to the air and depth in the trachea and esophagus. A strong correlation was observed between the length of fish bones detected by B-ultrasound and CT and the actual length. Indeed, no significant difference was observed between the length of fish bone determined by B-ultrasound and the actual length. In patients with fish bones located in the anterior and lateral neck regions, the foreign bodies were successfully removed by a lateral cervical approach operation (23/24). For the 6 cases with fish bones located in the retropharyngeal space, all (6/6) were removed by incising the posterior pharyngeal wall with assistance from transoral endoscopy. The techniques of B-ultrasound and CT have advantages for the diagnosis of migratory foreign bodies in the neck. Although B-ultrasound is more accurate for estimating the length of migratory fish bones in the neck, a combination of both methods can improve the preoperative positive rate of diagnosis. Therefore, a variety of surgical approaches should be employed to manage the different locations of cervical foreign bodies.

Perineural invasion in cervical cancer: A multicenter retrospective study

ObjectiveThe study aimed to evaluate the accuracy of perineural invasion (PNI) diagnosis in cervical cancer, and to analyze the impact of PNI on the prognosis and postoperative adjuvant treatment decisions for cervical cancer. MethodsA retrospective pathological review of PNI in cervical cancer was conducted from 2004 to 2016 in 15 hospitals. ResultsThis study included a total of 1208 cases, comprising 273 cases with PNI and 935 cases without. The false positive rate and false negative rate of PNI diagnosis were 5.35% (50/935) and 33.33% (91/273), respectively. Adenocarcinoma, deep stromal invasion, lymphovascular space invasion (LVSI) (+), and margin involvement were independent risk factors for PNI. Both 5-year overall survival rate (OS) and 5-year disease-free survival rate (DFS) of PNI group were worse than non-PNI group. PNI was an independent risk factor for 5-year OS and 5-year DFS. In cases receiving standard postoperative adjuvant treatment, among those with two intermediate-risk factors, both 5-year OS and DFS were worse in the PNI group. Among cases with three intermediate-risk factors or at least one high-risk factor, there was no difference in 5-year OS between the two groups, but 5-year DFS was worse in the PNI group. ConclusionThe diagnosis of PNI in cervical cancer was not accurate. Adenocarcinoma, deep stromal invasion, LVSI, and margin involvement were independent risk factors for PNI. PNI was an independent risk factor for 5-year OS and DFS. PNI has the potential to serve as a new high-risk factor, thus providing guidance for postoperative adjuvant therapy.

Analysis of Temporal Artery Biopsy by Provider Across a Large Multi-State Health Care Network.

Temporal artery biopsy (TAB) is the standard test for diagnosing giant cell arteritis. Our objective was to determine which specialists perform TABs and if there is variation across the United States. We performed a cross-sectional analysis in a multi-state health care system, evaluating differences between observed counts of surgical specialty by region, positive diagnoses by region, and positive diagnoses by specialty. Temporal arterial biopsy was performed on 3825 patients with the proportion of specialties performing TAB differing between regions. Temporal artery biopsy was performed by a significantly higher percentage of general surgeons in the Midwest (53.6%) and less vascular surgeons in the West (30.4%). The percentage of positive diagnoses was higher for vascular surgeons (32.7%). We concluded that TAB is performed by physicians of many specialties with the specialty performing most of these procedures varying by region. There is also a difference in the rate of positive diagnoses that varies with surgical specialty.

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardiac disease and phenotypic subtypes of congenital heart disease (CHD) has been little studied. We report the diagnostic yield after next-generation sequencing in 500 patients with CHD from diverse population subgroups that were enrolled at three different sites in the Clinical Sequencing Evidence-Generating Research consortium. Patients were ascertained due to a primary cardiovascular issue comprising arrhythmia, cardiomyopathy and/or CHD and corresponding human phenotype ontology terms were selected to describe the cardiac and extracardiac findings. We examined the diagnostic yield for patients with arrhythmia, cardiomyopathy and/or CHD and phenotypic subtypes of CHD comprising conotruncal defects, heterotaxy, left ventricular outflow tract obstruction, septal defects, and ‘Other’ heart defects. We found a significant increase in the frequency of positive findings for patients who underwent genome sequencing compared to exome sequencing and for syndromic cardiac defects compared to isolated cardiac defects. We also found significantly higher diagnostic rates for patients who presented with isolated cardiomyopathy compared to isolated CHD. For patients with syndromic presentations who underwent genome sequencing, there were significant differences in the numbers of positive diagnoses for phenotypic subcategories of CHD, ranging from 31.7% for septal defects to 60% for Other. Despite variation in the diagnostic yield at each site, our results support genetic testing in pediatric patients with syndromic and isolated cardiovascular issues and in all subtypes of CHD.

Predictive value of controlling nutritional status score for prostate cancer diagnosis.

This study aims to explore the predictive value of the Controlling Nutritional Status (CONUT) score for prostate cancer (PCa) diagnosis. The data of 114 patients who underwent prostate needle biopsies from June 2020 to December 2022 were retrospectively analyzed. The relationship between CONUT score and various clinical factors as well as PCa diagnosis was evaluated. The pathological results classified patients into the PCa (n = 38) and non-PCa (n = 76) groups. Compared with the non-PCa group, the PCa group exhibited statistically significant differences in age, prostate-specific antigen (PSA), PSA density (PSAD), the proportion of PI-RADS ≥ 3 in mpMRI, and the CONUT score, prostate volume, lymphocyte count, and total cholesterol concentration (p < 0.05). ROC curve analyses indicated the diagnostic accuracy as follows: age (AUC = 0.709), prostate volume (AUC = 0.652), PSA (AUC = 0.689), PSAD (AUC = 0.76), PI-RADS ≥ 3 in mpMRI (AUC = 0.846), and CONUT score (AUC = 0.687). When CONUT score was combined with PSA and PSAD, AUC increased to 0.784. The AUC of CONUT score combined with PSA, PSAD, and mpMRI was 0.881, indicates a higher diagnostic value. Based on the optimal cut-off value of CONUT score, compared with the low CONUT score group, the high CONUT score group has a higher positive rate of PCa diagnosis (p < 0.05). CONUT score is an excellent auxiliary index for PCa diagnosis in addition to the commonly used PSA, PSAD, and mpMRI in clinical practice. Further prospective trials with a larger sample size are warranted to confirm the present study findings.

The Value of RDW, PDW, and Immunoglobulin E in the Clinical Diagnosis of Pediatric Asthma

Objective: To observe and explore the value of the combined application of red blood cell distribution width (RDW), platelet distribution width (PDW), and immunoglobulin E (IgE) in the process of clinical diagnosis of children with asthma. Methods: Fifty-five children with suspected asthma were admitted to the hospital from July 2021 to July 2023. They underwent a bronchodilator test upon admission and their RDW, PDW, and IgE were detected. The efficacy of diagnosis with a single indicator (RDW/PDW/IgE) and combined parameters (PDW + PDW + IgE) were compared with the results of the bronchodilator test. Results: 49 cases of pediatric asthma were diagnosed by the bronchodilator test. RDW and PDW of asthmatic children were lower than those of non-asthmatic children, while the IgE of asthmatic children was higher than that of non-asthmatic children, and there was a significant difference in the RDW, PDW, and IgE among children with different degrees of asthma severity (P &lt; 0.05). The positive rate of the three combined diagnostic tests of RDW, PDW, and IgE was significantly higher than the positive rate of a single-parameter diagnosis (P &lt; 0.05). Conclusion: The combination of RDW, PDW, and IgE plays a crucial role in the clinical diagnosis of asthmatic children. These tests further improve the efficiency of clinical diagnosis and help identify the severity of the disease.

1874 Developing a pathway direct to elderly medicine clinic for frail patients referred via colorectal fast-track: pilot and outcomes

Abstract Introduction It is increasingly recognised within oncogeriatrics that standard fast-track pathways for suspected malignancy can be inappropriate for frail and elderly patients (Thomas et. al.; Age and Ageing; 2021; 50; ii8-ii13). Specifically for colorectal referrals, following standard pathways can mean undergoing invasive and expensive endoscopic investigations which may be unwanted and not alter overall management. Streaming frail patients to elderly medicine may increase opportunities for comprehensive geriatric assessment whilst reducing unwanted invasive tests and time spent on fast-track pathways. Methods A 3-month retrospective audit of frail patients seen in colorectal fast-track clinic was conducted to evaluate existing practice at Bradford Teaching Hospitals. This informed the design of a new pathway streaming frail patients directly to elderly clinic within 2 weeks. This was implemented in a 3-month pilot with data prospectively collected to compare outcomes. Cohorts: - 26 patients (median age 79, WHO performance status 3) seen by colorectal team March-June 2022. - 20 patients (median age 85, WHO performance status 2) streamed to elderly medicine clinic October 2022- March 2023. Results - Median time to fast-track pathway removal was 62 days for patients managed via colorectal clinic compared to 31 days via elderly medicine. - Invasive tests and imaging (CT/endoscopy) fell from 1.4 tests per patient in colorectal clinic to 0.4 patients in the pilot. - 2 diagnoses of cancer made via colorectal clinic, but no further treatment for either patient. 1 diagnosis of lung cancer in pilot group, patient undergoing radiotherapy. - Patients seen in elderly clinic had greater rates of positive diagnosis for symptoms (e.g: infective/iatrogenic). Conclusions Streaming frail elderly patients referred via colorectal fast-track to elderly medicine reduced the number of invasive investigations undertaken and time spent on fast-track pathways. Expanding this successful pilot could improve long-term clinical quality in the service and more widely if disseminated.

Comparison of the diagnostic effectiveness of ultrasound imaging coupled with three mathematical models for discriminating thyroid nodules.

The overlapping nature of thyroid lesions visualized on ultrasound (US) images could result in misdiagnosis and missed diagnoses in clinical practice. To compare the diagnostic effectiveness of US coupled with three mathematical models, namely logistic regression (Logistics), partial least-squares discriminant analysis (PLS-DA), and support vector machine (SVM), in discriminating between malignant and benign thyroid nodules. A total of 588 thyroid nodules (287 benign and 301 malignant) were collected, among which 80% were utilized for constructing the mathematical models and the remaining 20% were used for internal validation. In addition, an external validation cohort comprising 160 nodules (80 benign and 80 malignant) was employed to validate the accuracy of these mathematical models. Our study demonstrated that all three models exhibited effective predictive capabilities for distinguishing between benign and malignant nodules, whose diagnostic effectiveness surpassed that of the TI-RADS classification, particularly in terms of true negative diagnoses. SVM achieved a higher diagnostic rate for malignant thyroid nodules (93.8%) compared to Logistics (91.5%) and PLS-DA (91.6%). PLS-DA exhibited higher diagnostic rates for benign thyroid nodules (91.9%) compared to Logistics (86.7%) and SVM (88.7%). Both the area under the receiver operating characteristic curve (AUC) values of PLS-DA (0.917) and SVM (0.913) were higher than that of Logistics (0.891). Our findings indicate that SVM had significantly higher rates of true positive diagnoses and PLS-DA exhibited significantly higher rates of true negative diagnoses. All three models outperformed the TI-RADS classification in discriminating between malignant and benign thyroid nodules.

Efficacy of endoscopic ultrasound-guided tissue acquisition using stereo-microscopic on-site evaluation for possible comprehensive genome profile in patients with advanced pancreatic cancer.

Stereomicroscopic on-site evaluation (SOSE) is a rapid evaluation method for endoscopic ultrasound-guided tissue acquisition (EUS-TA) with a high diagnostic sensitivity when the stereomicroscopically visible white core (SVWC) cut-off value (≥11mm) is met. We prospectively examined the association between SVWCs and the adequacy of tissue specimens, assuming subsequent comprehensive genome profiling (CGP). This study included 66 consecutive patients with suspected unresectable pancreatic cancer who underwent EUS-TA. The primary endpoint was the frequency of combined samples with ≥20% tumor cell content that met over twice the SVWC (T-SVWC) cut-off value, achieved through multiple punctures. The secondary endpoints were the number of punctures, the percentage of SVWC cut-off values, adverse events, the positive diagnosis rate, and the tissue section area. The median number of EUS-TA punctures for suspected unresectable pancreatic cancer was 3 (range, 3-4); SVWC and T-SVWC cut-off values were obtained in 171/206 specimens and 65/66 patients, respectively. There were no EUS-TA-related adverse events. The positive diagnosis rate of EUS-TA was 95.5%. Among the 63 patients meeting the T-SVWC cut-off value in pathological diagnoses, the median tumor cell content was 40% (range, 5-80%), with 57 patients having tumor cell content ≥20%. The median tissue section area was 15 (range, 3-40) mm2. When performing EUS-TA for unresectable pancreatic cancer with the intention of subsequent CGP, obtaining a high tumor cell content (≥20%) by assessing the T-SVWC cut-off value via SOSE may serve as a novel indicator for on-site estimation of CGP suitability for EUS-TA specimens.

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy. Methods: Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and Ukrainian patients with suspected monogenic epilepsy. Diagnostic yields were presented for five phenotypic subgroups, distinguished by seizure type, electroencephalographic abnormalities, anti-seizure treatment response, and neurodevelopmental deficits. Results: A definite molecular diagnosis was established in 46 out of 127 cases (36%). Alterations in six genes were detected in more than one patient: SCN1A, MECP2, KCNT1, KCNA2, PCDH19, SLC6A1, STXBP1, and TPP1, accounting for 48% of positive cases. 4/46 cases (8.7%) were mosaic for the variant. Although the highest rates of positive diagnoses were identified in children with developmental delay and generalized seizures (17/41, 41%) and in developmental end epileptic encephalopathies (16/40, 40%), a monogenic etiology was also frequently detected in patients with solely focal seizures (10/28, 36%). Molecular diagnosis directly influenced anti-seizure management in 15/46 cases. Conclusion: This study demonstrates the high diagnostic and therapeutic utility of large panel testing in childhood epilepsies irrespective of seizure types. Copy number variations and somatic mosaic variants are important disease-causing factors, pointing the need for comprehensive genetic testing in all unexplained cases. Pleiotropy is a common phenomenon contributing to the growing phenotypic complexity of single-gene epilepsies.

EVALUATION OF ALVARADO SCORE IN DIAGNOSIS OF ACUTE APPENDICITIS

Background: Abdominal pain is frequently caused by acute appendicitis, which can be diagnosed early and result in a lower morbidity and death rate. Improved diagnostic procedures should minimize the progression to complicated appendicitis as well as reduce the number of unwanted surgical interventions. However, even with the advancements in diagnostic laboratory tests and contemporary radiographic imaging, appendicitis diagnosis is still primarily clinical. Different scoring methods were developed to reduce the negative appendectomy rate and raise the positive diagnosis rate of appendicitis such as Alvarado score. The present study aimed to evaluate the sensitivity and specificity of the Alvarado score as a method for the diagnosis of acute appendicitis. Methods: A total of 146 operated cases of appendectomy in Zawia Medical Center, Libya were studied. All patients presented during a period from July 2018 to July 2019 with symptoms and signs of acute appendicitis, and after that, they were operated on by the conventional method of open appendectomy. The relevant data was collected and analyzed, and the efficiency of the Alvarado scoring system was assessed by calculating sensitivity, positive predictive value, and negative appendectomy rate. Results: In this study, 100% of patients reported pain as their primary presenting symptom; presentations occurred between one and seven days, with a mean of two days; 100% of patients had surgery; and the overall negative appendectomy rate in Alvarado ≥7 was 5% and 72.5% was the positive predictive value (PPV).Conclusion: Our findings suggest that the Alvarado score has a very high positive predictive value, i.e., diagnostic accuracy. Also, with the help of the Alvarado score, we can reduce the number of negative appendectomies. Besides that, this scoring system is an easy, simple, cheap, reliable, safe, and fast tool in the preoperative diagnosis of acute appendicitis and can work effectively in routine practice.

Improved diagnostic performance of insertable cardiac monitors by an artificial intelligence-based algorithm.

The increasing use of insertable cardiac monitors (ICM) produces a high rate of false positive (FP) diagnoses. Their verification results in a high workload for caregivers. We evaluated the performance of an artificial intelligence (AI)-based ILR-ECG Analyzer™ (ILR-ECG-A). This machine-learning algorithm reclassifies ICM-transmitted events to minimize the rate of FP diagnoses, while preserving device sensitivity. We selected 546 recipients of ICM followed by the Implicity™ monitoring platform. To avoid clusterization, a single episode per ICM abnormal diagnosis (e.g. asystole, bradycardia, atrial tachycardia (AT)/atrial fibrillation (AF), ventricular tachycardia, artefact) was selected per patient, and analyzed by the ILR-ECG-A, applying the same diagnoses as the ICM. All episodes were reviewed by an adjudication committee (AC) and the results were compared. Among 879 episodes classified as abnormal by the ICM, 80 (9.1%) were adjudicated as 'Artefacts', 283 (32.2%) as FP, and 516 (58.7%) as 'abnormal' by the AC. The algorithm reclassified 215 of the 283 FP as normal (76.0%), and confirmed 509 of the 516 episodes as abnormal (98.6%). Seven undiagnosed false negatives were adjudicated as AT or non-specific abnormality. The overall diagnostic specificity was 76.0% and the sensitivity was 98.6%. The new AI-based ILR-ECG-A lowered the rate of FP ICM diagnoses significantly while retaining a > 98% sensitivity. This will likely alleviate considerably the clinical burden represented by the review of ICM events.