Diagnostic Rate Research Articles

Parasitic Diseases of Upper Gastrointestinal Tract

Korea was a hotspot for parasitic infections until modern times. However, following economic development, improved health and hygiene and farming methods, and successful implementation of active deworming programs, human parasites are rare. Currently, medical and scientific advances have improved the survival rate of elderly and immunocompromised hosts, and immunosuppressants are widely administered for treatment, which may predispose patients to parasitic and various opportunistic infections. Furthermore, globalization has led to the entry of an increasing number of individuals from various countries into Korea, which increases the risk of transmission of parasites from foreign countries into Korea. However, parasitic diseases will tend to disappear in Korea, which may lead to reduced proficiency and diagnostic rate of existing stool tests, and new diagnostic methods tailored to Korea are unavailable. Currently, endoscopy is widely used as a standard method for gastrointestinal disease evaluation in Korea, and endoscopically detected parasites or parasite-induced abnormalities are useful to establish diagnosis in many cases. In this article, the author summarize the current status of endoscopic detection of parasitic diseases affecting the upper gastrointestinal tract.

Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.

Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus. In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array(SNP-arry) combined with whole-exome sequencing (WES). Although the diagnostic rate of copynumber variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy. This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research.

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment

ObjectiveWhole exome sequencing (WES) is becoming more widely used as a diagnostic tool in the field of medicine. In this article, we reported the diagnostic yield of WES and mitochondrial genome assessment in 2226 consecutive cases in a single clinical laboratory. Materials and methodsWe retrospectively analyzed consecutive WES reports from 2226 patients with various genetic disorders. WES-process was focused exclusively on the probands and aimed at a higher diagnostic capacity. We determined the diagnostic rate of WES overall and by phenotypic category, mode of inheritance, mitochondrial genome variant, and copy number variants (CNVs). ResultsAmong the 2226 patients who had diagnostic WES proband-only, the overall diagnostic yield of WES was 34.59% (770/2226). The highest diagnostic yield was observed in autosomal dominant disorders, at 45.58% (351/770), followed by autosomal recessive at 31.95%(246/770), X-linked disorder at 9.61%(74/770), and mitochondrial diseases at a notably lower 0.65%(5/770). The 12.21% (94/770) diagnoses were based on a total of 94 copy number variants reported from WES data. CNVs in children accounted for 67.02% of the total CNVs. While majority of the molecular diagnoses were related to nuclear genes, the inclusion of mitochondrial genome sequencing in the WES test contributed to five diagnoses. all mitochondrial diseases were identified in adults. ConclusionsThe proband-only WES provided a definitive molecular diagnosis for 34.59% of a large cohort of patients while analysis of WES simultaneously analyzed the SNVs, exons, mitochondrial genome, and CNVs, thereby improving the diagnostic yield significantly compared to the single-detection WES method; and facilitating the identification of novel candidate genes.

Proactive consultation of laboratory medicine increased diagnostic rate of multiple myeloma: One single center's 12-year experience.

Multiple myeloma (MM) was one of the hardest cancers to diagnose because of numerous nonspecific symptoms, leading to diagnostic delay. Proactive consultation of laboratory medicine (PCLM) could help timely diagnosis of blood cancers, avoiding diagnostic delay. This study aimed to evaluate the effect of PCLM on diagnosis and outcomes in MM. This retrospective study was conducted in newly diagnosed MM patients from 2011 to 2022. Implementation of PCLM initiated in 2015 with a laboratory-oriented algorithm. The annual diagnostic rate, patient demographics, the time intervals from symptom onset to diagnosis and to treatment, and clinical outcomes were analyzed. A total of 134 patients were newly diagnosed during the study interval. The diagnostic rate increased from 4.65 ± 1.59 to 7.43 ± 1.52 per million patient-visits after implementation of PCLM. The median time interval from symptom onset to diagnosis was significantly shortened after implementation of PCLM (50 days with interquartile range [IQR]: 24-136 days vs 150 days with IQR: 41-385 days, P = .003). Besides, the 1-year survival was significantly higher in patients diagnosed as MM after implementation of PCLM (72.4% vs 51.7%, P = .035). Implementation of PCLM not only increased diagnostic rate of MM and improved outcomes, but also raise awareness for MM and promote multidisciplinary collaboration in healthcare.

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population

BackgroundHereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its prevalence, hearing loss is marked by substantial genetic diversity, which poses challenges for diagnosis and screening, particularly in cases with no clear family history or when the impact of the genetic variant requires functional analysis, such as in the case of missense mutations and UTR variants. The advent of next-generation sequencing (NGS) has transformed the identification of genes and variants linked to various conditions, including hearing loss. However, there remains a high proportion of undiagnosed patients, attributable to various factors, including limitations in sequencing coverage and gaps in our knowledge of the entire genome, among other factors. In this study, our objective was to comprehensively identify the spectrum of genes and variants associated with hearing loss in a cohort of 106 affected individuals from the UAE.ResultsIn this study, we investigated 106 sporadic cases of hearing impairment and performed genetic analyses to identify causative mutations. Screening of the GJB2 gene in these cases revealed its involvement in 24 affected individuals, with specific mutations identified. For individuals without GJB2 mutations, whole exome sequencing (WES) was conducted. WES revealed 33 genetic variants, including 6 homozygous and 27 heterozygous DNA changes, two of which were previously implicated in hearing loss, while 25 variants were novel. We also observed multiple potential pathogenic heterozygous variants across different genes in some cases. Notably, a significant proportion of cases remained without potential pathogenic variants.ConclusionsOur findings confirm the complex genetic landscape of hearing loss and the limitations of WES in achieving a 100% diagnostic rate, especially in conditions characterized by genetic heterogeneity. These results contribute to our understanding of the genetic basis of hearing loss and emphasize the need for further research and comprehensive genetic analyses to elucidate the underlying causes of this condition.

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

The diagnosis of Mendelian disorders has notably advanced with integration of whole exome and genome sequencing (WES and WGS) in clinical practice. However, challenges in variant interpretation and uncovered variants by WES still leave a substantial percentage of patients undiagnosed. In this context, integrating RNA sequencing (RNA-seq) improves diagnostic workflows, particularly for WES inconclusive cases. Additionally, functional studies are often necessary to elucidate the impact of prioritized variants on gene expression and protein function.Our study focused on three unrelated male patients (P1-P3) with ATP6AP1-CDG (congenital disorder of glycosylation), presenting with intellectual disability and varying degrees of hepatopathy, glycosylation defects, and an initially inconclusive diagnosis through WES. Subsequent RNA-seq was pivotal in identifying the underlying genetic causes in P1 and P2, detecting ATP6AP1 underexpression and aberrant splicing. Molecular studies in fibroblasts confirmed these findings and identified the rare intronic variants c.289-233C > T and c.289-289G > A in P1 and P2, respectively. Trio-WGS also revealed the variant c.289-289G > A in P3, which was a de novo change in both patients. Functional assays expressing the mutant alleles in HAP1 cells demonstrated the pathogenic impact of these variants by reproducing the splicing alterations observed in patients.Our study underscores the role of RNA-seq and WGS in enhancing diagnostic rates for genetic diseases such as CDG, providing new insights into ATP6AP1-CDG molecular bases by identifying the first two deep intronic variants in this X-linked gene. Additionally, our study highlights the need to integrate RNA-seq and WGS, followed by functional validation, in routine diagnostics for a comprehensive evaluation of patients with an unidentified molecular etiology.

The diagnostic agreement of sarcopenic obesity with different definitions in Chinese community-dwelling middle-aged and older adults.

In 2022, the European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity (EASO) launched a consensus on the diagnostic methods for sarcopenic obesity (SO). The study aimed to identify the prevalence and diagnostic agreement of SO using different diagnostic methods in a cohort of subjects from West China aged at least 50 years old. A large multi-ethnic sample of 4,155 participants from the West China Health and Aging Trend (WCHAT) study was analyzed. SO was defined according to the newly published consensus of the ESPEN/EASO. Furthermore, SO was diagnosed as a combination of sarcopenia and obesity. The criteria established by the Asian Working Group for Sarcopenia 2019 (AWGS2019) were used to define sarcopenia. Obesity was defined by four widely used indicators: percent of body fat (PBF), visceral fat area (VFA), waist circumference (WC), and body mass index (BMI). Cohen's kappa was used to analyze the diagnostic agreement of the above five diagnostic methods. A total of 4,155 participants were part of the study, including 1,499 men (63.76 ± 8.23 years) and 2,656 women (61.61 ± 8.20 years). The prevalence of SO was 0.63-7.22% with different diagnostic methods. The diagnosis agreement of five diagnostic methods was poor-to-good (κ: 0.06-0.67). The consensus by the ESPEN/EASO had the poorest agreement with other methods (κ: 0.06-0.32). AWGS+VFA had the best agreement with AWGS+WC (κ = 0.67), and consensus by the ESPEN/EASO had the best agreement with AWGS+ PBF (κ = 0.32). The prevalence and diagnostic agreement of SO varies considerably between different diagnostic methods. AWGS+WC has the highest diagnostic rate in the diagnosis of SO, whereas AWGS+BMI has the lowest. AWGS+VFA has a relatively good diagnostic agreement with other diagnostic methods, while the consensus of the ESPEN/EASO has a poor diagnostic agreement. AWGS+PBF may be suitable for the alternative diagnosis of the 2022 ESPEN/EASO.

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

In the last decade, an incredible improvement has been made in elucidating the genetic bases of cardiomyopathies. Here we report the impact of either the European Society of Cardiology (ESC) guidelines or the use of whole exome sequencing (WES) in terms of a number of variants of uncertain significance (VUS) and missed diagnoses in a series of 260 patients affected by inherited cardiac disorders. Samples were analyzed using a targeted gene panel of 128 cardiac-related genes and/or WES in a subset of patients, with a three-tier approach. Analyzing (i) only a subset of genes related to the clinical presentation, strictly following the ESC guidelines, 20.77% positive test were assessed. The incremental diagnostic rate for (ii) the whole gene panel, and (iii) the WES was 4.71% and 11.67%, respectively. The diverse analytical approaches increased the number of VUSs and incidental findings. Indeed, the use of WES highlights that there is a small percentage of syndromic conditions that standard analysis would not have detected. Moreover, the use of targeted sequencing coupled with "narrow" analytical approach prevents the detection of variants in actionable genes that could allow for preventive treatment. Our data suggest that genetic testing might aid clinicians in the diagnosis of inheritable cardiac disorders.

Process improvement in thyroid fine needle aspiration: Standardizing number of smears for enhanced adequacy and diagnosis.

Fine-needle aspiration (FNA) is a safe, cost-effective diagnostic procedure used in the evaluation of thyroid nodules. The number of thyroid FNAs has dramatically increased over the past few years. In the absence of standardized procedures regarding the number of needle passes needed for diagnosis and the lack of clarity on the use of conventional smears (CS) versus liquid-based preparations (LBP), the demand of thyroid FNAs has led to increased workload on cytology laboratories, which can negatively affect patient safety. We implemented a standardized two needle passes for CS and collection of all needle rinses and additional pass material in CytoRich Red for ThinPrep LBP and compared the non-diagnostic and diagnostic rates before and after this intervention. There were 290 pre-intervention cases and 348 post-intervention cases; of which, there were 17 (5.9%) non-diagnostic cases of the pre-intervention group and 27 (7.8) non-diagnostic cases of the post-intervention group. There was no statistically significant difference in non-diagnostic and diagnostic rates before and after the change (p = 0.347 by two-tailed Z test).

Diagnostic Assessment of Endoscopic Ultrasonography-Fine Needle Aspiration Cytology in the Pancreas: A Comparison between Liquid-Based Preparation and Conventional Smear.

Background and Objectives: This study aimed to elucidate the cytologic characteristics and diagnostic usefulness of endoscopic ultrasonography-fine needle aspiration cytology (EUS-FNAC) by comparing it with liquid-based preparation (LBP) and conventional smear (CS) in pancreas. Methods: The diagnostic categories (I through VII) were classified according to the World Health Organization Reporting System for Pancreaticobiliary Cytopathology. Ten cytologic features, including nuclear and additional features, were evaluated in 53 cases subjected to EUS-FNAC. Nuclear features comprised irregular nuclear contours, nuclear enlargement, hypochromatic nuclei with parachromatin clearing, and nucleoli. Additional cellular features included isolated atypical cells, mucinous cytoplasm, drunken honeycomb architecture, mitosis, necrotic background, and cellularity. A decision tree analysis was conducted to assess diagnostic efficacy. Results: The diagnostic concordance rate between LBP and CS was 49.1% (26 out of 53 cases). No significant differences in nuclear features were observed between categories III (atypical), VI (suspicious for malignancy), and VII (malignant). The decision tree analysis of LBP indicated that cases with moderate or high cellularity and mitosis could be considered diagnostic for those exhibiting nuclear atypia. Furthermore, in CS, mitosis, isolated atypical cells, and necrotic background exerted a more significant impact on the diagnosis of EUS-FNAC. Conclusions: Significant parameters for interpreting EUS-FNAC may differ between LBP and CS. While nuclear atypia did not influence the diagnosis of categories III, VI, and VII, other cytopathologic features, such as cellularity, mitosis, and necrotic background, may present challenges in diagnosing EUS-FNAC.

Clinical Application and Feasibility of Capsule Endoscopy in Children at a Medical Center in Central Taiwan

Background/PurposeCapsule endoscopy (CE) is a noninvasive examination for excellent visualization of small bowel mucosal lesions. We aimed to evaluate the clinical efficacy and safety of CE in pediatric patients. MethodsFrom April 2014 to December 2022, CE procedures performed in children younger than 18 years of age at Taichung Veteran General Hospital were analyzed retrospectively. ResultsAmong 136 procedures, the completion rate was 95.6% (n=130), with a median age of 14 years old. Suspicion or evaluation of inflammatory bowel diseases (IBD) (41%) was the most common indication for CE. Other common indications of CE were chronic unexplained abdominal pain (35%) and obscure gastrointestinal bleeding or iron deficiency anemia (21%). No procedure-related complications occurred. The diagnosis of those patients with incomplete study were CD with small bowel stricture, graft-versus-host disease and duodenal ulcers. A total of 86 CE procedures showed positive findings, and the overall diagnostic yield rate was 63.2%. Small bowel ulcers (65.12%) were the most common findings. Overall, 26.5% of CE examinations resulted in a new diagnosis and 44.9% of CE exams led to a change in therapy. For patients with IBD, CE findings resulted in an even higher therapeutic change rate of 48.1%. ConclusionsCE is a safe and feasible diagnostic method to study the small intestine in children, especially for IBD. Incomplete study could be an indicator of positive finding and can potentially be a guide to identify the site of possible strictures.

Real-world clinical validation of the Qatar pre-diabetes risk score: a cross-sectional study

IntroductionPre-diabetes stands as a prominent, independent risk factor for the onset of type 2 diabetes (T2D), with 5%–10% of individuals with pre-diabetes progressing to T2D annually. The effectiveness of rigorous...

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

AbstractObjectiveStudies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation.MethodsPediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory.ResultsGenetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing.ConclusionThis is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations.Level of evidenceLevel 4 (cohort study).

Patología vascular mesentérica

Mesenteric vascular disease is wide-ranging and can produce different manifestations depending on various factors, including the presence of symptoms or not; the clinical form of presentation; the vessels involved, duration, and cause; and collateral blood flow. The clinical entities described herein include acute and chronic mesenteric artery ischemia; nonocclusive mesenteric ischemia; acute, subacute, and chronic mesenteric venous thrombosis; focal segmental ischemia of the small intestine; colonic ischemia; arterial aneurysms; and vasculitis.This disease produces a wide spectrum of clinical symptoms that share the same predisposing factors and many etiologies, although with different consequences. Abdominal pain is the most common clinical symptom in these diseases. In acute forms, high clinical suspicion is essential for making a rapid diagnosis and early treatment that prevents more severe lesions. The widespread use of computed tomography has led to greater diagnostic rates with an improved prognosis for these patients.Treatment varies from conservative to surgical, depending on the case. Early anticoagulation is a fundamental treatment in many cases and in recent years, vascular radiology techniques have been developed which produce good results.

Prevalence and Classification of Pediatric Neuromuscular Disorders in the Central Region of Portugal.

Neuromuscular disorders are a group of rare heterogenous diseases with profound impact on quality of life, for which overall pediatric prevalence has rarely been reported. The purpose of this study was to determine the point prevalence of pediatric neuromuscular disorders and its subcategories in the central region of Portugal. Retrospective case identification was carried out in children with neuromuscular disorders seen between 1998 and 2020 from multiple data sources. Demographics, clinical and molecular diagnoses were registered. On January 1, 2020, the point overall prevalence in the population <18 years of age was 41.20/100 000 (95% confidence interval 34.51-49.19) for all neuromuscular disorders. The main case proportion were genetic disorders (95.7%). We found a relatively higher occurrence of limb-girdle muscular dystrophies, congenital myopathies, and spinal muscular atrophy and a slightly lower occurrence of Duchenne muscular dystrophy, hereditary spastic paraparesis, and acquired neuropathies compared to previous studies in other countries. Molecular confirmation was available in 69.5% of pediatric neuromuscular patients in our cohort.Total prevalence is high in comparison with the data reported in the only previous study on the prevalence of pediatric neuromuscular disorders in our country. Our high definitive diagnostic rate underscores the importance of advances in investigative genetic techniques, particularly new sequencing technologies, in the diagnostic workup of neuromuscular patients.

Development of a web application to evaluate spirometric curve and clinical variables to support COPD diagnosis in primary care.

Choric obstructive pulmonary disease (COPD) is the third mortality cause in the world, and the development of useful diagnostic tools is necessary to improve timely diagnostic rates in primary care settings. To develop a web application displaying spirometric and clinical information - including respiratory symptoms and risk factors- to facilitate a COPD diagnosis. In this cross-sectional study, an expert consensus was carried out with three specialists using the Delphi method to choose the relevant variables for COPD diagnosis. We developed a Python-based web application to diagnose COPD, displaying the clinical variables deemed relevant by the experts along the spirometric curve. Twenty-six clinical variables were included in the web application for the diagnosis of COPD. A fourth expert used the web application to classify a cohort of 695 patients who had undergone spirometry in a third-level centre and had answered at least one of five questionnaires for COPD screening. Out of the 695 subjects, 34% had COPD, according to the expert that diagnosed them using the web application. Only 42% of the patients in the COPD group had received a previous COPD diagnosis and 19% of the patients in the no COPD group had been misdiagnosed with the disease. We developed a web application that displays demographic and clinical information, as well as spirometric data, to facilitate the process of diagnosing COPD in primary care settings.

Comprehensive evaluation of the child with global developmental delays or intellectual disability.

Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, and society. The etiology of GDD/ID is notably diverse, encompassing both genetic and acquired factors. Although the precise cause of most GDD/ID cases remains unclear, an estimated half of all cases can be attributed to genetic factors. Thus, a detailed medical history and comprehensive physical examination remain pivotal for guiding diagnostic investigations into the underlying causes of GDD/ID. Advancements in genetic testing have supplanted traditional methods such as karyotyping and fluorescence in situ hybridization with chromosomal micro arrays, which are now the primary genetic tests for children with idiopathic GDD/ID. Moreover, the evaluation of Fragile X and Rett syndrome should be an integral component of initial diagnostic assessments. In recent years, whole-exome sequencing and whole-genome sequ-encing have emerged as important diagnostic tools for evaluating children with GDD/ID and have substantially enhanced the diagnostic yield rates. Gene therapy has emerged as a promising avenue and is poised to become a cornerstone in addressing various genetic developmental and epilepsy disorders. Early intervention facilitated by a proficient multidisciplinary team can markedly enhance the prognosis and outcomes of GDD/ID, particularly when parents or caregivers are actively engaged in the interventional process. This review discusses risk factors and common underlying causes, explores recent evidence and recommendations for genetic evaluation, and offers management strategies for children with GDD/ID.

Comparing the Diagnostic Performance of GPT-4-based ChatGPT, GPT-4V-based ChatGPT, and Radiologists in Challenging Neuroradiology Cases.

To compare the diagnostic performance among Generative Pre-trained Transformer (GPT)-4-based ChatGPT, GPT‑4 with vision (GPT-4V) based ChatGPT, and radiologists in challenging neuroradiology cases. We collected 32consecutive "Freiburg Neuropathology Case Conference" cases from the journal Clinical Neuroradiology between March 2016 and December 2023. We input the medical history and imaging findings into GPT-4-based ChatGPT and the medical history and images into GPT-4V-based ChatGPT, then both generated adiagnosis for each case. Six radiologists (three radiology residents and three board-certified radiologists) independently reviewed all cases and provided diagnoses. ChatGPT and radiologists' diagnostic accuracy rates were evaluated based on the published ground truth. Chi-square tests were performed to compare the diagnostic accuracy of GPT-4-based ChatGPT, GPT-4V-based ChatGPT, and radiologists. GPT‑4 and GPT-4V-based ChatGPTs achieved accuracy rates of 22% (7/32) and 16% (5/32), respectively. Radiologists achieved the following accuracy rates: three radiology residents 28% (9/32), 31% (10/32), and 28% (9/32); and three board-certified radiologists 38% (12/32), 47% (15/32), and 44% (14/32). GPT-4-based ChatGPT's diagnostic accuracy was lower than each radiologist, although not significantly (all p > 0.07). GPT-4V-based ChatGPT's diagnostic accuracy was also lower than each radiologist and significantly lower than two board-certified radiologists (p = 0.02 and 0.03) (not significant for radiology residents and one board-certified radiologist [all p > 0.09]). While GPT-4-based ChatGPT demonstrated relatively higher diagnostic performance than GPT-4V-based ChatGPT, the diagnostic performance of GPT‑4 and GPT-4V-based ChatGPTs did not reach the performance level of either radiology residents or board-certified radiologists in challenging neuroradiology cases.

What is diagnostic safety? A review of safety science paradigms and rethinking paths to improving diagnosis.

Diagnostic errors in health care are a global threat to patient safety. Researchers have traditionally focused diagnostic safety efforts on identifying errors and their causes with the goal of reducing diagnostic error rates. More recently, complementary approaches to diagnostic errors have focused on improving diagnostic performance drawn from the safety sciences. These approaches have beencalled Safety-II and Safety-III, which apply resilience engineering and system safety principles, respectively. This review explores the safety science paradigms andtheir implications for analyzing diagnostic errors, highlighting their distinct yet complementary perspectives. The integration of Safety-I, Safety-II, and Safety-III paradigms presents a promising pathway for improving diagnosis. Diagnostic researchers not yet familiar with the various approaches and potential paradigm shift in diagnostic safetyresearch may use this review as a starting point for considering Safety-I, Safety-II, and Safety-III in their efforts toboth reduce diagnostic errors and improve diagnostic performance.

Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses.

The identification and prognosis of the agenesis of the corpus callosum (ACC) for prenatal consultation are complex and currently unclear. This study aims to explore the correlated genetic mutations of prenatal ACC. We retrospectively analyzed 114 prenatal cases of ACC. All cases (n = 114) were subjected to chromosomal microarray analysis (CMA), and 66 CMA-negative cases underwent prenatal exome sequencing (pES) for further analysis. CMA was diagnosed positively in 15/114 (13.2%) cases and pES was diagnosed positively in 24/66 (36.4%) CMA-negative cases. The detection rate of genetic causes between complete and partial ACCs was not significantly different (P > 0.05). Between isolated and non-isolated (other anomalies present) ACCs, the diagnostic rate of pES in non-isolated cases was significantly higher (P < 0.001), while CMA results did not differ (P > 0.05). The diagnostic rate of CMA was significantly increased in cases combined with intracranial and extracranial malformations (P = 0.014), while no CMA positivity was detected in cases combined with only intracranial malformations. For fetuses with prenatal ACC, further pES analysis should be recommended after negative CMA results. Chromosome abnormalities are less likely to occur when ACC with only intracranial malformations combined.