Diagnosis Of Primary Disease Research Articles

Negative effects of COVID-19 on the implantation rate of cardiac resynchronization therapy with defibrillator device.

COVID-19 drastically impacted the landscape of the United States' medical system. Limited data is available on the nationwide implantation trends in Cardiac Resynchronization Therapy Defibrillator (CRT-D) devices before and during the pandemic. We aimed to explore the impact of the COVID-19 pandemic on CRT-D insertion rates and adverse outcomes related to delays in care. We conducted a retrospective cross-sectional analysis using the National Inpatient Sample database between 2017 and 2020. Variables were identified using their ICD-10 codes. Inclusion criteria: age ≥ 18 years, presenting for a nonelective admission, primary diagnosis of hypertensive heart disease, hypertensive heart, chronic kidney disease, or heart failure, and underwent insertion of a CRT-D. Between 2017 and 2020, CRT-D devices were inserted during 23,635 admissions. On average, 6198 devices were implanted yearly from 2017 to 2019, with only 5040 devices being implanted in 2020. Additionally, reduced implantation rates were noted for every cohort of hospital size, location, and teaching status during this year. The year 2020 also had the highest average death rate at 1.39%, but this difference was statistically insignificant (adjusted Wald test p = .767), and COVID-19 was not associated with an increased risk of inpatient mortality (OR 0.22, 95% CI 0.03-1.82, p = .162). The COVID-19 pandemic has affected all facets of the healthcare system, especially surgical volume rates. CRT-D procedures significantly decreased in 2020. This is the first retrospective study highlighting the trend of reduced rates of CRT-D implantation as a response to the COVID-19 pandemic.

Application of artificial intelligence methods in the diagnosis and treatment of primary angle-closure disease

This article reviews literature on the use of artificial intelligence (AI) methods for the diagnosis and treatment of primary angle-closure disease (PACD). The review describes how AI techniques enhance the efficiency of population screening for anterior chamber angle closure, presents technologies utilizing deep learning, including neural networks, for the analysis of large datasets obtained through anterior segment imaging methods, such as anterior segment optical coherence tomography (AS-OCT), digital gonioscopy, and ultrasound biomicroscopy, and discusses methods for treating PACD with the help of AI. Integration of deep learning and imaging techniques represents a crucial step in optimizing the diagnosis and treatment of PACD, reducing the burden on the healthcare system.

Diagnosis of primary immunodeficiency diseases by flow cytometry: Experience from Bangladesh

Abstract BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and immunologically diverse and require a wide array of clinical and laboratory modalities to make specific diagnosis. Serum immunoglobulin levels and T cell, B cell and NK (Natural killer) cell immunophenotyping are routine laboratory investigations advised to diagnose the PIDD cases in Bangladesh. Along with T-B-NK markers, use of Naïve (CD45RA+) and memory (CD45RO+) T cell, switched memory B cell (CD27+IgD-) markers, detection of intracellular BTK (Bruton’s tyrosine kinase), LRBA (Lipopolysaccharide-responsive beige-like anchor), DOCK8 (Dedicator of cytokinesis 8) protein expression and DHR123 (Dihydro-rhodamine 123) assay of neutrophil can increase the PIDD cases detection in Bangladesh. METHODS: The study was conducted in the Department of Microbiology and Immunology, Bangabandhu Sheikh Mujib Medical University (BSMMU) during the time period of March, 2021 to February, 2022. Seventy clinically suspected PIDD cases were enrolled in this study on the basis of clinical findings and peripheral venous blood was collected from all patients to perform immunophenotyping. Routine T-B-NK cell, naïve and memory T cell with switched memory B cell markers were detected by flow-cytometry. Serum immunoglobulins (IgG, IgM, IgA & IgE) were estimated by Nephelometry and by Chemiluminescence. Intracellular BTK, LRBA and DOCK8 protein expression was detected by flow-cytometry in suspected X-linked agammaglobulinemia (XLA), LRBA and DOCK8 deficiency patients respectively. DHR123 assay was performed in suspected Chronic granulomatous disease (CGD) patients. RESULTS: Among the 70 clinically suspected PIDD cases, 9 (12.9%) were diagnosed as patients of PIDDs on the basis of laboratory evidence. Five (55.55%) cases were diagnosed as predominantly antibody deficiencies (PADs), 3 (33.33%) were patients of combined immunodeficiency (CID) and 1 (11.11%) was CGD patient. Among the diagnosed PIDD cases, 2 (22.22%) were diagnosed by T-B-NK cell immunophenotyping with serum immunoglobulin levels and 7 (77.77%) cases were diagnosed by additional CD45RA+, CD45RO+, CD27+IgD- markers, BTK protein expression detection and DHR123 assay. LRBA and DOCK8 deficiency cases could not found in this study. CONCLUSION: The use of additional markers (CD45RA+, CD45RO+, CD27+IgD-) with BTK, LRBA, DOCK8 intracellular protein expression evaluation and DHR123 assay by flow-cytometry can increase rate of specific diagnosis of the PIDD cases in Bangladeshi paediatric population.

MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.

The international Mitochondrial Disease Sequence Data Resource Consortium (MSeqDR) Quick-Mitome (QM) is a web-based platform enabling automated variant interpretation of whole-exome sequencing (WES) datasets for the genetic diagnosis of primary mitochondrial diseases (PMD). Designed specifically to address the unique dual genome nature of PMD etiologies, QM includes features for both nuclear and mitochondrial DNA (mtDNA) genome analysis. QM requires VCF variant lists, HPO ID clinical phenotypes, and pedigree files for multiple-sample VCF inputs. QM maps phenotypes to HPO terms before analysis. QM analysis requires 2 to 20 min for 100,000 variants on an 8-vCPU AWS server using Exomiser's "PASS_ONLY" mode for nuclear variants. QM ranks variants based on allele frequency, phenotype-gene association, functional impact, and inheritance mode. Variants are further annotated with multiple data sources such as OMIM, ClinVar, dbNSFP, gnoMAD, MITOMAP, and MSeqDR. In addition to standard Exomiser results, QM generates an Analysis Report and QM Integrated Report with add-on mtDNA-specific analyses, including haplogroup prediction with Phy-Mer, heteroplasmy calculation, and mvTool annotations. We developed the Mitochondrial Disease Variant (MDV) classifier using XGBoost to predict variant pathogenicity for PMD. The MDV classifier was trained on >120 features and performance benchmarking showed that it correctly classified >98% of nuclear gene variants as being pathogenic or benign, and predicted PMD-causing variants with 94% precision. The MSeqDR QM server is an open-access resource for phenotype-driven dual-genome analyses for PMD diagnosis by the global mitochondrial disease community. It is publicly available for non-commercial, non-clinical research use at https://mseqdr.org/quickmitome.php. © 2024 Wiley Periodicals LLC. Basic Protocol 1: Standardizing clinical phenotypes into human phenotype ontology (HPO) terms as the phenotype input for Quick-Mitome (QM) Basic Protocol 2: Prepare the pedigree input for multiple-sample VCF Basic Protocol 3: Quick-Mitome (QM) analysis Basic Protocol 4: Reviewing and understanding the QM Integrated Report and Analysis Report.

Epidemiological investigation of congenital heart diseases among children during the years 2016 to 2021

Background: Congenital heart disease is a type of birth defect that affects about 1% of babies born each year and is the leading cause of death in infancy that is diagnosed at birth or later in life. Due to the high importance of this issue and high mortality and morbidity, the aim of this study was epidemiological investigation of congenital heart diseases in children during 2016 to 2021. Methods: In this cross-sectional analytical study, all children admitted to Bo Ali Hospital in Ardabil with primary diagnosis of congenital heart disease or secondary diagnosis during hospitalization along with all children referred to the clinic of this hospital with diagnosis of congenital heart disease were included in the study. Results: A total of 449 children with congenital heart disease were included in the study. 235 cases (52.33%) were boys, 35 cases (7.79%) had diabetic mothers and 12 cases (2.6%) had obese mothers. 20 cases (4.4%) were the result of multiple pregnancy and 31 cases (6.9%) were preterm. Significantly, preterm birth was more in children with cyanotic disease (p=0.036) and multiple births and maternal diabetes and aneuploidy were more in children with cyanotic disease compared to Asianotic children (p value equal to 0.008 respectively and 0.001 and 0.001). Conclusions: The frequency of congenital heart diseases, gender composition and related risk factors such as preterm birth and maternal diabetes were aligned and similar to domestic and foreign studies. Maternal diabetes and preterm birth can be considered as risk factors for congenital heart diseases.

Comparison of direct oral anticoagulants versus low-molecular-weight heparin in primary and metastatic brain cancers: a meta-analysis and systematic review

BackgroundThe safety and efficacy of direct-acting oral anticoagulants (DOACs) for therapeutic anticoagulation in the setting of primary or metastatic brain cancer is not known. ObjectivesTo conduct a meta-analysis and systematic review of studies that compare the risk of intracranial hemorrhage (ICH) in patients with brain cancer treated with DOACs vs low-molecular-weight heparin (LMWH). MethodsA literature search was conducted using PubMed, EMBASE, and Cochrane databases. Summary statistics were obtained by calculating the risk ratio (RR), and heterogeneity across studies was estimated using the I2 statistic. A total of 10 retrospective studies (n = 1638) met criteria for inclusion. The primary endpoint was the pooled RR for ICH in patients with brain tumors receiving anticoagulation with DOACs compared with those receiving LMWH. Secondary analyses included the risk of fatal ICH in each subgroup. ResultsThe pooled RR for ICH in patients receiving DOACs vs those receiving LMWH was 0.65 (95% CI, 0.36-1.17; P = .15; I2 = 50%). In studies evaluating primary brain cancer, there was a reduction in risk of ICH with DOACs (RR, 0.35; 95% CI, 0.18-0.69; P = .003; I2 = 0%). In patients with metastatic brain cancer, there was no difference in the risk of ICH with the type of anticoagulation (RR, 1.05; 95% CI, 0.71-1.56; P = .80; I2 = 0%). The overall risk of fatal ICH was not different between anticoagulants. ConclusionThe risk of ICH in patients with brain cancer receiving therapeutic anticoagulation varies by anticoagulation agent and diagnosis of primary or metastatic disease.

Infections with long latency in international refugees, immigrants, and migrants seen at GeoSentinel sites, 2016–2018

BackgroundThe continued increase in global migration compels clinicians to be aware of specific health problems faced by refugees, immigrants, and migrants (RIM). This analysis aimed to characterize RIM evaluated at GeoSentinel sites, their migration history, and infectious diseases detected through screening and diagnostic workups. MethodsA case report form was used to collect data on demographics, migration route, infectious diseases screened, test results, and primary infectious disease diagnosis for RIM patients seen at GeoSentinel sites. Descriptive statistics were performed. ResultsBetween October 2016 and November 2018, 5,319 RIM patients were evaluated at GeoSentinel sites in 19 countries. Africa was the region of birth for 2,436 patients (46 %), followed by the Americas (1,644, 31 %), and Asia (1,098, 21 %). Tuberculosis (TB) was the most common infection screened and reported as positive (853/2,273, 38 % positive by any method). TB, strongyloidiasis, and hepatitis B surface antigen positivity were observed across all migration administrative categories and regions of birth. Chagas disease was reported only among RIM patients from the Americas (393/394, 100 %) and schistosomiasis predominantly in those from Africa (480/510, 94 %). TB infection (694/5,319, 13 %) and Chagas disease (524/5,319, 10 %) were the leading primary infectious disease diagnoses. ConclusionsSeveral infections of long latency (e.g. TB, hepatitis B, and strongyloidiasis) with potential for long-term sequelae were seen among RIM patients across all migration administrative categories and regions of origin. Obtaining detailed epidemiologic information from RIM patients is critical to optimize detection of diseases of individual and public health importance, particularly those with long latency periods.

Development and validation of a nomogram for predicting enteral feeding intolerance in critically ill patients (NOFI): Mixed retrospective and prospective cohort study

Developing and validating a clinical prediction nomogram of enteral feeding intolerance (NOFI) in critically ill patients. So as to help clinicians implement pre-intervention for patients with high risk of enteral feeding intolerance (FI), formulate individualized feeding strategies, and reduce the probability of FI occurrence. From March 2018 to April 2023, patients who met the inclusion criteria but did not meet the exclusion criteria constituted the development cohort for retrospective analysis, and NOFI was developed. Patients recruited consecutively between May 2023 and July 2023 constituted the validation cohort for the prospective analysis for independent external validation of NOFI. Initially, a backward stepwise method was employed to conduct a multivariate logistic regression analysis in the development cohort, aiming to identify the optimal-fit model. Subsequently, a nomogram was derived from this model. The validation of the nomogram was carried out in an independent external validation cohort, where discrimination and calibration were evaluated. Additionally, a decision curve analysis was conducted to assess the net benefit of utilizing the nomogram for decision-making. A total of 628 and 143 patients, 49.0% and 51.7% of patients occurred FI, were included in the development and validation cohort, respectively. We developed a NOFI in severely ill patients and the primary diagnosis, Acute gastrointestinal injury (AGI) grade, and APACHE II score were independent predictors of FI, with the OR of the primary diagnosis of circulatory disease being 2.281 (95% CI, 1.364-3.816; P=0.002); The OR of respiratory diseases was 0.424 (95% CI, 0.259-0.594; P=0.001); The OR of AGI grade was 4.920 (95% CI, 3.773-6.416; P<0.001), OR of APACHE II score was 1.100 (95% CI, 1.059-1.143; P<0.001). Independent external validation of the prediction model was performed. This model has good discrimination and calibration. The decision curve analysis of the nomogram provided better net benefit than the alternate options (full early enteral nutrition or delayed enteral nutrition). The prediction of enteral feeding intolerance can be conveniently facilitated by the NOFI that integrates primary diagnosis, AGI grade, and APACHE II score in critically ill patients.

Neuroradiology Image-Guided Interventions in Oncologic Disease

Image-guided interventions in neuroradiology play an integral role in both the diagnosis and treatment of many oncologic conditions. This article reviews the range of image-guided interventions performed by neuroradiology as part of the care team for patients with cancer, with a specific discussion of indications and techniques for diagnostic and therapeutic procedures. These interventions aid in the diagnosis, presurgical planning, and treatment of primary and metastatic diseases in the head, neck, and spine as well as contribute to the management of neuropathic cancer-related pain.Learning Objective: To identify the range of image-guided interventions performed by neuroradiologists as part of the oncologic care team, including indications and techniques for diagnostic and therapeutic procedures

Diagnostic Accuracy of Artificial Intelligence in Virtual Primary Care

ObjectiveTo evaluate the diagnostic accuracy of artificial intelligence (AI)-generated clinical diagnoses. Patients and MethodsA retrospective chart review of 102,059 virtual primary care clinical encounters from October 1, 2022, to January 31, 2023 was conducted. Patients underwent an AI medical interview, after which virtual care providers reviewed the interview summary and AI-provided differential diagnoses, communicated with patients, and finalized diagnoses and treatment plans. Our accuracy measures were agreement between AI diagnoses, virtual care providers, and blind adjudicators. We analyzed AI diagnostic agreement across different diagnoses, presenting symptoms, patient demographic characteristics such as race, and provider levels of experience. We also evaluated model performance improvement with retraining. ResultsProviders selected an AI diagnosis in 84.2% (n = 85,976) of cases and the top-ranked AI diagnosis in 60.9% (n = 62,130) of cases. Agreement rates varied by diagnosis, with greater than or equal to 95% provider agreement with an AI diagnosis for 35 diagnoses (47% of cases, n = 47,679) and greater than or equal to 90% agreement for 57 diagnoses (69% of cases, n = 70,697). The average agreement rate for half of all presenting symptoms was greater than or equal to 90%. Adjusting for case mix, diagnostic accuracy exhibited minimal variation across demographic characteristics. The adjudicators’ consensus diagnosis, reached in 58.2% (n = 128) of adjudicated cases was always included in the AI differential diagnosis. Provider experience did not affect agreement, and model retraining increased diagnostic accuracy for retrained conditions from 96.6% to 98.0%. ConclusionOur findings show that agreement between AI and provider diagnoses is high in most cases in the setting of this study. The results highlight the potential for AI to enhance primary care disease diagnosis and patient triage, with the capacity to improve over time.

Portable biosensor-based oral pathogenic bacteria detection for community and family applications.

Detection of oral pathogens is essential in the management of oral diseases, as their occurrence and progression are closely linked to an imbalance in these microorganisms. Detection techniques such as microbial cultures, enzyme-linked immunosorbent assays and polymerase chain reactions are highly dependent on complex testing procedures and specialized laboratory equipment, making prevention and early diagnosis of oral diseases difficult. To comprehensively implement oral disease prevention and early diagnosis in social groups, there is an urgent need for portable testing methods for oral pathogenic bacteria that can be applied in community and home settings. In this review, several common portable biosensors for pathogenic bacteria are first described. Based on the goal of achieving primary prevention and diagnosis of oral diseases, we elaborate and summarize portable biosensors for common oral pathogenic bacteria in terms of how to achieve portability of the technique. This review aims to reflect the current status of portable biosensors for common oral pathogens and to lay the foundation for the further realization of portable detection of oral pathogens.

Predictors of dislocations after reverse shoulder arthroplasty: a study by the ASES complications of RSA multicenter research group

Instability after reverse shoulder arthroplasty (RSA) is one of the most frequent complications and remains a clinical challenge. Current evidence is limited by small sample size, single-center, or single-implant methodologies that limit generalizability. We sought to determine the incidence and patient related risk factors for dislocation after RSA, using a large, multicenter cohort with varying implants. A retrospective, multicenter study was performed involving fifteen institutions and 24 ASES members across the United States. Inclusion criteria consisted of patients undergoing primary or revision RSA between January 2013 and June 2019 with minimum 3-month follow-up. All definitions, inclusion criteria, and collected variables were determined using the Delphi method, an iterative survey process involving all primary investigators requiring at least 75% consensus to be considered a final component of the methodology for each study element. Dislocations were defined as complete loss of articulation between the humeral component and the glenosphere and required radiographic confirmation. Binary logistic regression was performed to determine patient predictors of postoperative dislocation following RSA. We identified 6,621 patients who met inclusion criteria with a mean follow-up of 19.4 months (range 3-84). The study population was 40% male with an average age of 71.0 years (range 23-101). The rate of dislocation was 2.1% (n=138) for the whole cohort, 1.6% (n=99) for primary RSAs, and 6.5% (n=39) for revision RSAs (P<.001). Dislocations occurred at a median of 7.0 weeks (IQR 3.0-36.0) after surgery with 23.0% (n=32) following a trauma. Patients with a primary diagnosis of glenohumeral osteoarthritis with an intact rotator cuff had an overall lower rate of dislocation than patients with other diagnoses (0.8% vs. 2.5%; P<.001). Patient-related factors independently predictive of dislocation, in order of the magnitude of effect, were history of postoperative subluxations prior to radiographically confirmed dislocation (Odds Ratio [OR] 19.52, P<.001), primary diagnosis of fracture nonunion (OR 6.53, P<.001), revision arthroplasty (OR 5.61, P<.001), primary diagnosis of rotator cuff disease (OR 2.64, P<.001), male sex (OR 2.21, P<.001), and no subscapularis repair at surgery (OR 1.95, P=.001). The strongest patient-related factors associated with dislocation were a history of postoperative subluxations and having a primary diagnosis of fracture non-union. Notably, RSAs for osteoarthritis showed lower rates of dislocations than RSAs for rotator cuff disease. This data can be used to optimize patient counseling prior to RSA, particularly in male patients undergoing revision RSA.

505-P: Real-World Use of Inclisiran in Outpatient Physician Clinics

Objective: In clinical trials, inclisiran, a novel siRNA therapy, reduced LDL-C equally among diabetic and nondiabetic patients. This study aimed to characterize a cohort of obese, prediabetic, and diabetic patients prior to initiating inclisiran in outpatient clinics. Methods: This was a retrospective, longitudinal cohort study of patients referred for treatment with inclisiran between February and November 2022 in 23 clinics in 11 states. Patients with obesity (BMI&amp;gt;30 kg/m2), prediabetes (5.7≤ HbA1c≤ 6.5%), or diagnosed diabetes at the time of referral were assessed. The log rank test was used to identify differences in time from referral to first administration between above groups. Results: Of 81 identified patients, 48.2% were diabetic, 27.2% obese, and 24.7% prediabetic. Median age was 71 (IQR: 68-75) years, 60.5% were male, and 60.5% were Medicare beneficiaries. At referral, 81.4% had a primary diagnosis of atherosclerotic cardiovascular disease (ASCVD), 30.9% were on concurrent statins, 30.9% on ezetimibe, 66.7% had documented statin intolerance, 50.6% had prior PCSK9 monoclonal antibody use, and the median Elixhauser comorbidity score was 6.0 (IQR: 2-15). Elixhauser score was notably higher among the diabetic group (Median: 9, IQR: 3-18) compared to the prediabetic (Median: 4, IQR: 0-13) and obese (Median: 3, IQR: -3-12) patient groups. Median baseline LDL-C was 135 (IQR: 99-166) mg/dL with no differences between groups. Median time to initiation was 27 (IQR: 16-49) days with no notable difference between obese, prediabetic, and diabetic patients. Conclusion: Inclisiran can be promptly initiated in the clinic setting for the management of LDL-C in obese, prediabetic, and diabetic patients. Future work will focus on measuring real-world effectiveness and adherence to inclisiran in each of these groups. Disclosure T.E. Graham: None. T.J. Varisco: Consultant; HEALIX. C.M. Ballantyne: Research Support; Abbott Diagnostics, Akcea, Amgen Inc., Arrowhead Pharmaceuticals, Inc., ESPERION Therapeutics, Inc., Ionis Pharmaceuticals, Merck &amp; Co., Inc., Novartis, Novo Nordisk, Regeneron, Roche Diagnostics. Consultant; Alnylam Pharmaceuticals, Inc., Althera Pharmaceuticals, Amarin Corporation, Amgen Inc., Arrowhead Pharmaceuticals, Inc., AstraZeneca, ESPERION Therapeutics, Inc., 89bio, Inc., Abbott Diagnostics, Denka Seiken, Genentech, Inc., Gilead Sciences, Inc., Illumina, Matinas BioPharma Inc, Merck &amp; Co., Inc., New Amsterdam Pharma, Novartis, Novo Nordisk, Pfizer Inc., Regeneron, Roche Diagnostics. B.J. Iteld: Speaker's Bureau; Amgen Inc. Research Support; Amgen Inc., Novartis AG, Bayer Inc. Speaker's Bureau; ESPERION Therapeutics, Inc. Research Support; BMS. Speaker's Bureau; Boehringer-Ingelheim. H. Serota: Speaker's Bureau; Amarin Corporation. Advisory Panel; Bayer Inc. Speaker's Bureau; Janssen Pharmaceuticals, Inc., Boehringer Ingelheim and Eli Lilly Alliance. S. McElligott: Employee; Novartis. Stock/Shareholder; Janssen Pharmaceuticals, Inc. Employee; Sanofi. Stock/Shareholder; Merck &amp; Co., Inc. X. Niu: Employee; Novartis, Sunovion Pharmaceuticals Inc. L.J. Van Anglen: Research Support; Novartis Pharmaceuticals Corporation, Merck &amp; Co., Inc., ADMA Biologics, Inc., Octapharma USA, Paratek Pharmaceuticals. Funding Novartis Pharmaceuticals Corporation

Abstract 34: Evaluation of Potential Risk for Developing Treatment-Associated Late Effects Among Childhood Cancer Survivors in Northern Tanzania

Abstract Purpose: Global advancement in pediatric cancer treatment has significantly increased survival rates for children with cancer. Childhood cancer survivors (CCS) now represent a growing population at risk of potentially debilitating late effects of their treatment. This study evaluates the potential risk for long-term complications related to cancer therapy among childhood cancer survivors who completed treatment in Tanzania at Bugando Medical Centre (BMC), and compares the relative risk assessment of childhood cancer survivors at BMC as compared to the published British Childhood Cancer Survivor Study (BCCSS) cohort. Methods: Files of all patients age &amp;lt;18 yo with an oncologic diagnosis who received and completed their treatment at BMC from 2016 to 2020 were retrospectively reviewed. Extracted data included patient demographics, primary disease diagnosis and site, treatment received, and cumulative treatment doses. BCCSS risk assessment was assigned and predicted long-term follow-up surveillance needs were extrapolated from published Children’s Oncology Group Long-Term Follow-Up Guidelines. Results: 190 patients were initially identified, with 17 excluded due to missing treatment information. Among the remaining 173 patients, the mean age was 7yo, 47% were female (n=82), and the most common diagnoses were Wilms tumour (30%, n=52) and Burkitt’s Lymphoma (26%, n=45). 98% received chemotherapy (n=170), 42% (n=73) underwent tumour resection, and 8% (n=18) received radiation. Distribution of BCCSS late effect risk assessment included 6% low risk (n=10), 80% moderate risk (n=139) and 14% (n=24) high risk. This was a higher rate of moderate/severe risk (94%) compared to the published UK BCCSS cohort (84%). Based on treatment received, the late effects with highest potential risk were cardiomyopathy (57% of patients, n=98), bladder and urinary tract toxicity (50%, n=87), and ototoxicity (22%, n=38). Conclusion: Childhood cancer survivors at BMC have a higher risk of late effects as compared to published survivor cohorts in high-income countries. There is a need to develop and improve long-term follow-up care for survivors by enhancing patient and provider education to promote early detection of late effects. Based on risk assessment, survivorship programs in Tanzania should at a minimum include the capacity to perform echocardiograms, urinalysis, renal ultrasound, audiological evaluation, fundoscopic and neurological exams, and renal function test. Citation Format: Goodluck Nchasi, Gaudence Ajuaye, David Noyd, Hannah Spiegl, Erica Sanga, Heronima Joas, Kristin Schroeder. Evaluation of Potential Risk for Developing Treatment-Associated Late Effects Among Childhood Cancer Survivors in Northern Tanzania [abstract]. In: Proceedings of the 11th Annual Symposium on Global Cancer Research; Closing the Research-to-Implementation Gap; 2023 Apr 4-6. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(6_Suppl):Abstract nr 34.

Ophthalmic pathology in patients with primary neurodegenerative diseases

AbstractBackgroundThe priority problem of modern healthcare is irreversible dementia due to the steady increase in morbidity. Among irreversible dementias, Alzheimer’s disease takes the first place. Most often, only with sufficiently pronounced cognitive disorders, the doctor can diagnose Alzheimer’s disease, although it is obvious that the neurodegenerative process begins even before the clinical manifestations of the disease. Due to the common origin of the eye and the brain, we can say that the eye is a “window to the brain”. Many scientists note the similarities between gerontophthalmological diseases and Alzheimer’s disease.MethodThe study examined 60 patients who were divided into 2 groups: the first group included patients with Alzheimer’s disease, the second group included patients with vascular dementia. Each group included 9 men and 21 women, with an average age of 65.5 years. All patients underwent a comprehensive neuropsychological examination, using the short Mental Status Assessment Scale (MMSE), the Montreal Cognitive Function Assessment Scale (MoCA), the battery of tests for assessing frontal dysfunction (FAB), the clock drawing test. Also, all patients underwent ophthalmological examination of the visometry, measurement of intraocular pressure, examination of the anterior segment of the eye and fundus, and spectral optical coherence tomography.ResultIn the course of the study, significant ophthalmic pathology was detected in the group with neurodegenerative changes ‐ age‐related macular degeneration was found in 16.7%, pseudoexfoliative syndrome‐20%, primary open‐angle glaucoma‐46.7%.ConclusionThis means that the risk of developing gerontophthalmological diseases increases in patients with neurodegenerative disorders. Therefore, we can assume that the retina is a mirror of neurodegenerative changes in the brain, which will allow to diagnose the disease at early stages and with the help of drug therapy to delay further development of the disease, resulting in reduced disability for patients and socio‐economic costs of society.The results obtained are promising for the early diagnosis of primary neurodegenerative diseases and indicate the need for further research on this topic.

The Second Qatar Allergy and Immunology Conference: An Editorial.

The 2nd Qatar Allergy and Immunology Conference was organized by the Adult Allergy and Immunology Division of Hamad Medical Corporation (HMC) over two days as a hybrid conference on the 10th and 11th of February 2023 at ITQAN Clinical Simulation and Innovation Centre. The conference was preceded by two pre-conference workshops directed toward physicians and nurses on the 9th of February, 2023. The workshops aimed to promote awareness about allergic and immunologic diseases among physicians and nurses. The 2nd Qatar Allergy and Immunology Conference represented a great learning platform for healthcare professionals and opportunities to update knowledge, present research, and meet professionals since allergy and immunology practice is a rapidly evolving science focusing on allergic and immunologic conditions and their advanced treatment options. The conference’s scientific program focused on the following topics: airway allergy and asthma, skin allergies, diagnosis and management of primary immunodeficiency diseases, and novel therapeutics for allergic diseases. One of the significant achievements of this year’s conference is conducting a focused research symposium that provides a flagship platform for medical students and faculty scholars to present their research experiences and up-to-date health topics and to share their experiments and research findings with a broader community. It aimed to gather scientists and physicians from across Qatar and internationally with recent updates regarding the role of precision medicine in allergy and immunology science and practice. HMC supported the event in partnership with the Qatar Allergy and Immunology Society (QAIS) (a chapter of the Qatar Medical Association). It was accredited for 21.25 CPD Category 1 as defined by the Ministry of Public Health’s Department of Healthcare Professions. The conference hosted many expert speakers from Qatar, the Gulf region, and internationally. The total number of participants was 1082, comprised of physicians, nurses, and scientists. We received 34 abstracts, 32 were accepted for poster presentations, and the best six were selected for the oral presentation session. Another achievement of our conference is advocating the Arabic language. One lecture and one oral abstract were presented in Arabic to demonstrate the importance and simplicity of using the Arabic language in medical education and science.

Diagnostic significance of TREC and KRE Cevaluation in case of primary immunodeficiencies

IntroductionTREC and KREC are products of V(D)J recombination of Tand B-lymphocyte receptors in thymus and bone marrow, respectively. Low levels of TREC/KREC in peripheral blood are connected to T- and/or B-cell lymphopenia Materials and methodsWe have studied DNA of healthy children (n = 98) aged 0.0 (0–15.0) years, patients with primary immunodeficiency (n = 84) (SCID (n = 13), AT (n = 15), NBS (n = 17), X-linked agammaglobulinemia (n = 15), diseases of immune dysregulation (n = 14), Wicksott-Aldrich syndrome (n = 10)) aged 7.0 (0.1–15.0) years by multiplex RQ-PCR.The analysis of diagnostic significance has been performed by tracing of characteristic ROC curves and defining the area under the AUC curve. ResultsThe AUC(TREC) and KREC for the SCID diagnostics has been equal to 1.00 ± 0.0 (p < 0.0001) with a diagnostic sensitivity and specificity of 100%.The AUC(TREC) for the X-linked agammaglobulemia diagnosis has made 0.62 ± 0.07 (p = 0.16) with diagnostic sensitivity and specificity of 14% and 93.6%, respectively. The AUC(KREC) has been 1.00 ± 0.0 (p < 0.0001) with diagnostic sensitivity and specificity of 100%.AUC(TREC) for patients with syndromes of chromosomal instability has been equal to 0.99 ± 0.007 (p < 0.0001) with diagnostic sensitivity of 93.4% and specificity of – 97.4%. The AUC(KREC) has been 0.98 ±0.015 (p < 0.0001)) with diagnostic sensitivity of 93.5% and specificity of 98.7%.In case of diseases of immune dysregulation, AUC(TREC) has been equal to 0.99 ± 0.007 (p < 0.0001) with diagnostic sensitivity of 93.3% and specificity of 96.3%. The AUC(KREC) has been 0.87 ± 0.06 (p < 0.0001) with diagnostic sensitivity of 86.6% and specificity of 94.6%.The AUC(TREC) for Wiskott-Aldrich syndrome diagnostics using analysis has made 0.63 ± 0.1 (p = 0.16), with sensitivity and specificity of 30% and 78.1%, respectively. AUC(KREC) has been 0.61 ± 0.09 (p = 0.23) with sensitivity of 20.0% and specificity of 92.35%. ConclusionEvaluation of TREC/KREC is diagnostically significant during the primary diagnosis of diseases, associated with severe combined immune deficiency, agammaglobulinemia, syndromes of chromosomal instability, immune dysregulation. Evaluation of TREC/KREC has low information content and, thus, has no diagnostic significance for Wiskott-Aldrich syndrome.

PO-02-028 NEGATIVE EFFECTS OF COVID-19 ON THE IMPLANTATION RATE OF CARDIAC RESYNCHRONIZATION THERAPY WITH DEFIBRILLATOR DEVICE.

Coronavirus-19 (COVID-19) pandemic drastically changed the landscape of the US medical system. Total surgical procedure volume declined across all specialties, primarily in elective procedures. Multiple task forces promoted the cancellation of nonurgent elective procedures, including the implantation of a Cardiac Resynchronization Therapy Defibrillator (CRT-D) in stable patients during the pandemic. The effect of COVID-19 on the rate of CRT-D implantation is poorly understood. We aim to explore the impact of the COVID-19 pandemic on CRT-D insertion rates, along with negative outcomes related to delays in care. We conducted a retrospective analysis using the National Inpatient Sample (NIS) database for patient encounters involving the insertion of CRT-D between 2017 & 2020. Variables were identified using their ICD-10 codes. Admissions were included if the patient was at least 18 years of age, presenting for a non-elective admission, had a primary diagnosis of hypertensive heart disease, hypertensive heart, and chronic kidney disease, or heart failure (ICD-10 codes I11, I13, I50), and underwent insertion of a CRT-D (ICD-10 code 0JH**9*). Between 2017 and 2020, CRT-D devices were inserted during 23,635 admissions. On average, 6,198 devices were implanted yearly from 2017 to 2019, with only 5,040 being implanted in 2020. CRT-D implant rates dropped below their previous 3-year average in every region of the US during 2020 (Figure 1). Additionally, the highest average death rate at 13.89%, but this difference was statistically insignificant (adjusted Wald test p=0.767), and COVID-19 was not associated with an increased risk of inpatient mortality (OR 0.22, 95% CI 0.03-1.82, p=0.162). Blacks were disproportionately affected by a reduction in CRT-D procedures for this demographic in 2020 as compared to other races. COVID-19 pandemic has affected all facets of the healthcare system, especially surgical volume rates. Consistent with many other procedures, CRT-D procedures significantly decreased in 2020 following multiple task force recommendations to postpone nonurgent procedures in the setting of rampant COVID-19 infections. To our knowledge, this is the first retrospective study highlighting the trend of decreased rates of CRT-D implantation as a response to the COVID-19 pandemic.

SUBDISTRICT CLUSTERING IN WEST JAVA PROVINCE BASED ON DISEASE INCIDENCE OF JKN PARTICIPANTS PRIMARY SERVICES

One of the efforts that can be done to optimize health services and the distribution of facilities and infrastructure efficiently in a wide scope is by profiling and clustering areas in the province of West Java to the scope of sub-districts that have similar characteristics of disease category. The methods that will be compared to get the best clustering are hierarchical clustering and ensemble clustering. The data used as the object of research is the BPJS Kesehatan capitation primary service sample data for the 2017-2018 period. Some of the important variables used include: primary disease diagnosis data (ICD-10) of patients at the puskesmas, service time, type of visit, and location of service sub-district. This study uses several evaluation metrics Silhouette coefficient, Dunn index, Davies-Bouldin index, and C-index to determine the optimal number of clusters formed. In addition, descriptive analysis and visualization of the clustering results are also used as considerations in selecting the optimal cluster. Based on the evaluation results, the optimal method is hierarchical clustering with complete linkage. This method produces three clusters: cluster 1 consists of 5 sub-districts that have a high/dominant mean value in almost all disease categories, cluster 2 consists of 26 sub-districts that have a medium mean value, and cluster 3 consists of 589 sub-districts that have a low mean value. Most of the members of clusters 1 and 2 are sub-districts located in the districts/cities around the national capital (DKI Jakarta) and the provincial capital (Bandung) while the members of cluster 3 are mostly sub-districts located in suburban districts/cities or far from the central government.

MP31-14 CLINICAL OUTCOMES ASSOCIATED WITH A KIDNEY STONE EVENT AFTER KIDNEY TRANSPLANTATION

You have accessJournal of UrologyCME1 Apr 2023MP31-14 CLINICAL OUTCOMES ASSOCIATED WITH A KIDNEY STONE EVENT AFTER KIDNEY TRANSPLANTATION Calyani Ganesan, Redwood City, Ca, Sai Liu, Simon Conti, Glenn Chertow, Alan Pao, and John Leppert Calyani GanesanCalyani Ganesan More articles by this author , Redwood CityRedwood City More articles by this author , Ca Ca More articles by this author , Sai LiuSai Liu More articles by this author , Simon ContiSimon Conti More articles by this author , Glenn ChertowGlenn Chertow More articles by this author , Alan PaoAlan Pao More articles by this author , and John LeppertJohn Leppert More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003264.14AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Kidney stone disease is common and can lead to complications such as urinary tract obstruction, infection, and acute kidney injury. In kidney transplant recipients, complications from kidney stone events may lead to reduced allograft function. Clinical outcomes associated with kidney stone events in kidney transplant recipients such as acute kidney injury, urinary tract infections and hospitalization rates remain unknown. METHODS: We used data from the United States Renal Data System to identify adult patients who received their first kidney transplant between January 1st, 2007, and December 31st, 2018. Patients were included if they had uninterrupted Medicare Part A and B for at least six months prior to kidney transplant. We identified transplant patients who were hospitalized with a primary diagnosis of kidney stone disease and transplant patients with acute kidney injury and urinary tract infections using inpatient and outpatient International Classification of Diseases, Ninth and Tenth Revision (ICD-9/ICD-10) claims-based algorithms. RESULTS: We identified 83,535 patients who received a kidney transplant. The incidence of kidney stone events was 1.7% (1,436) in the 3 years after transplant. The median time from transplant to a kidney stone diagnosis was 0.61 (25%,75% range 0.19-1.46) years. The proportion of patients with a kidney stone event who were hospitalized was 39% (556/1436). Approximately 35% (508/1436) of kidney transplant patients had acute kidney injury and 4% (64/1436) had a urinary tract infection associated with a kidney stone event. CONCLUSIONS: Hospitalization and acute kidney injury are not rare events in kidney transplant patients who experience a kidney stone. These findings suggest that kidney transplant recipients who are at risk for kidney stone disease may benefit from closer monitoring of complications associated with kidney stone disease. Future work to assess long-term changes in allograft function in transplant patients with stone disease and the impact of stone recurrence in these patients is needed. Source of Funding: Department of Veterans Affairs Merit Review (I01 HX003091 to ACP and JTL) and the National Institutes of Diabetes and Digestive and Kidney Diseases (K23DK128651 to CG) © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e435 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Calyani Ganesan More articles by this author Redwood City More articles by this author Ca More articles by this author Sai Liu More articles by this author Simon Conti More articles by this author Glenn Chertow More articles by this author Alan Pao More articles by this author John Leppert More articles by this author Expand All Advertisement PDF downloadLoading ...