Übersichtsarbeiten / Review Articles. Was wollen wir (diagnostizieren) und was sollten wir diagnostizieren. Ein systemischer Überblick und Ausblick / What Would we Like to (Diagnose) and what do we have to Diagnose. A Systemic Overview and Perspective.

What Would we Like to (Diagnose) and what do we have to Diagnose. A Systemic Overview and Perspective Behavioral problems in children and young people are currently quickly suspected of being a sign of a psychological problem or a psychiatric disorder. In many cases, the caregivers agree on this, but in others there are clearly different perspectives from obvious to possible diagnoses. Whether a diagnosis makes sense and whether appropriate diagnostics are effective depends on various factors. From a systemic perspective, the common process, the symptomatic patients and their environment benefit from a solution- and resource-oriented view, which should have a greater impact on the future design of classifications of health and illness.

The clinical application value of multi-site mNGS detection of patients with sepsis in intensive care units.

BACKGROUND: Sepsis remains a leading cause of mortality in intensive care units, and rapid and accurate pathogen detection is crucial for effective treatment. This study evaluated the clinical application of multi-site metagenomic next-generation sequencing (mNGS) for the diagnosis of sepsis, comparing its performance against conventional methods. METHODS: A retrospective analysis was conducted on 69 patients with sepsis consecutively admitted to the Department of Intensive Care Medicine, Meizhou People's Hospital. Samples of peripheral blood and infection sites were collected for mNGS and conventional method tests to compare the positive rate of mNGS and traditional pathogen detection methods and the distribution of pathogens. The methods used in this study included a comprehensive analysis of pathogen consistency between peripheral blood and infection site samples. Additionally, the correlation between the pathogens detected and clinical outcomes was investigated. RESULTS: Of the patients with sepsis, 57.97% experienced dyspnea, and 65.2% had underlying diseases, with hypertension being the most common. mNGS demonstrated a significantly higher pathogen detection rate (88%) compared to the conventional method tests (26%). The pathogen consistency rate was 60% between plasma and bronchoalveolar lavage fluid samples, and that of plasma and local body fluid samples was 63%. The most frequently detected pathogens were gram-negative bacteria, and Klebsiella pneumonia. There were no significant differences in the clinical features between the pathogens. CONCLUSION: mNGS is significantly superior to conventional methods in pathogen detection. There was a notable high pathogen consistency detection between blood and local body fluid samples, supporting the clinical relevance of mNGS. This study highlights the superiority of mNGS in detecting a broad spectrum of pathogens quickly and accurately. TRIAL REGISTRATION: Not applicable.

Epithelioid Hemangioendothelioma as a Dangerous, Easy to Miss, and Nearly Impossible to Clinically Diagnose Condition: Case Report.

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with metastatic potential. EHE can have single- or multiorgan involvement, with presentations ranging from asymptomatic disease to pain and systemic symptoms. The extremely heterogeneous clinical presentation and disease progression complicates EHE diagnosis and management. We present the case of a 24-year-old woman with two periauricular erythematous papules, leading to the discovery of metastatic EHE through routine biopsy, despite a noncontributory medical history. Histology revealed the dermal proliferation of epithelioid cells and vacuoles containing red blood cells. Immunohistochemistry markers consistent with EHE solidified the diagnosis. Although extremely rare, prompt diagnosis of EHE is essential for informed decision-making and favorable outcomes. Key clinical and histopathological findings are highlighted to aid dermatologists in diagnosing and managing this uncommon condition.

The U-shaped association between age at diagnosis and recurrence in patients with papillary thyroid carcinoma: A retrospective single-institution cohort study.

PURPOSE: Age is a significant predictor of papillary thyroid carcinoma (PTC). At present, the available evidence shows that age at diagnosis has an important impact on the recurrence of PTC. The objective of our investigation was to examine the relationship between age at diagnosis and recurrence in patients with PTC. METHODS: The medical records of patients with PTC who were treated between January 2010 and December 2018 at a single institute in a cancer referral center in China were retrospectively reviewed. The hazard ratios (HRs) and 95 % confidence intervals (CIs) for recurrence-free survival (RFS), locoregional recurrence-free survival (LRRFS) and distant metastasis-free survival (DMFS) were assessed using Cox proportional hazard models and restricted cubic splines (RCSs). RESULTS: A total of 13758 patients were included in the study. With a median follow-up of 60 months (range 12-277), a total of 687 patients experienced recurrence, and 90 patients died. The 5-year RFS, LRRFS and DMFS rates were 95.0 % (95 % CI 94.6%-95.4 %), 95.8 % (95 % CI 95.4%-96.2 %) and 98.8 % (95 % CI 98.6%-99.0 %), respectively. The adjusted smooth RCS curves revealed a U-shaped association between age at diagnosis and RFS, LRRFS, and DMFS. After adjusting for potential confounding variables, both younger (≤30 years) and older (≥55 years) patients exhibited significantly lower RFS and LRRFS rates than did middle-aged patients (31-54 years). Older patients had significantly lower DMFS rates. CONCLUSIONS: This study confirmed a U-shaped association between age at diagnosis and the risk of both locoregional recurrence and distant metastasis.

Assessing the Effect of Electronic Health Record Data Quality on Identifying Patients With Type 2 Diabetes: Cross-Sectional Study.

Background: Increasing and substantial reliance on electronic health records (EHRs) and data types (ie, diagnosis, medication, and laboratory data) demands assessment of their data quality as a fundamental approach, especially since there is a need to identify appropriate denominator populations with chronic conditions, such as type 2 diabetes (T2D), using commonly available computable phenotype definitions (ie, phenotypes). Objective: To bridge this gap, our study aims to assess how issues of EHR data quality and variations and robustness (or lack thereof) in phenotypes may have potential impacts in identifying denominator populations. Methods: Approximately 208,000 patients with T2D were included in our study, which used retrospective EHR data from the Johns Hopkins Medical Institution (JHMI) during 2017-2019. Our assessment included 4 published phenotypes and 1 definition from a panel of experts at Hopkins. We conducted descriptive analyses of demographics (ie, age, sex, race, and ethnicity), use of health care (inpatient and emergency room visits), and the average Charlson Comorbidity Index score of each phenotype. We then used different methods to induce or simulate data quality issues of completeness, accuracy, and timeliness separately across each phenotype. For induced data incompleteness, our model randomly dropped diagnosis, medication, and laboratory codes independently at increments of 10%; for induced data inaccuracy, our model randomly replaced a diagnosis or medication code with another code of the same data type and induced 2% incremental change from -100% to +10% in laboratory result values; and lastly, for timeliness, data were modeled for induced incremental shift of date records by 30 days to 365 days. Results: Less than a quarter (n=47,326, 23%) of the population overlapped across all phenotypes using EHRs. The population identified by each phenotype varied across all combinations of data types. Induced incompleteness identified fewer patients with each increment; for example, at 100% diagnostic incompleteness, the Chronic Conditions Data Warehouse phenotype identified zero patients, as its phenotypic characteristics included only diagnosis codes. Induced inaccuracy and timeliness similarly demonstrated variations in performance of each phenotype, therefore resulting in fewer patients being identified with each incremental change. Conclusions: We used EHR data with diagnosis, medication, and laboratory data types from a large tertiary hospital system to understand T2D phenotypic differences and performance. We used induced data quality methods to learn how data quality issues may impact identification of the denominator populations upon which clinical (eg, clinical research and trials, population health evaluations) and financial or operational decisions are made. The novel results from our study may inform future approaches to shaping a common T2D computable phenotype definition that can be applied to clinical informatics, managing chronic conditions, and additional industry-wide efforts in health care.

Rapid diagnosis of alveolar echinococcosis from lung puncture sample using metagenomic next-generation sequencing: a case report.

INTRODUCTION: Alveolar echinococcosis (AE), caused by the larval forms of Echinococcus multilocularis, is a zoonotic disease affecting the liver, lungs, lymph nodes, kidneys, brain, bones, thyroid, and other organs. Diagnosing AE in a non-endemic area is usually challenging. With the rapid development and increasing application of sequencing techniques in recent years, metagenomic next-generation sequencing (mNGS) has become a powerful tool for diagnosing rare infectious diseases. CASE PRESENTATION: A 45-year-old woman was admitted to the hospital for the presence of pulmonary shadows for more than 3 months. The lung computed tomography (CT) at a local hospital revealed scattered solid and quasi-circular nodules in the left upper lobe, left lower lobe, right middle lobe, and right lower lobe. The largest nodule was located in the dorsal part of the right lung, measuring 2.0 × 1.7 × 1.5 cm. Moreover, abdominal CT revealed one space-occupying lesion each in the left and right lobes. The pathological analysis of the lung biopsy specimen revealed infiltration of lymphocytes, plasma cells, and eosinophils in the alveolar wall and interstitial area. No pathogenic bacteria were observed in the sputum smear and culture tests. There were no parasite eggs in the stool. The mNGS of the lung puncture tissue revealed 6156 sequence reads matching E. multilocularis; thus, the condition was diagnosed as AE. Albendazole 400 mg was administered twice daily, and the patient was stable during follow-up. CONCLUSION: This case emphasizes the role of mNGS in diagnosing AE. As a novel, sensitive, and accurate diagnostic method, mNGS could be an attractive approach for facilitating early diagnosis and prompt treatment of infectious diseases, especially when the infection was caused by rare pathogens.

Is three-dimensional ultrasonography a valuable diagnostic tool for patients with ovarian cancer? Systematic review and meta-analysis.

Introduction: This paper was to assess the diagnostic performance and clinical value of three-dimensional ultrasonography (3DUS), three-dimensional ultrasonography power Doppler (3DPD), and 3DUS combined with 3DPD in ovarian cancer (OC). Methods: The study was registered with PROSPERO (CRD 42023405765). PubMed and Web of Science were searched from inception to 25 January 2022, and reference lists of potentially eligible studies were also manually searched. Patient and study characteristics were extracted by two independent reviewers. Any discrepancies were addressed through discussion. The sensitivity, specificity, positive and negative likelihood ratio (PLR and NLR, respectively), and the area under the receiver operating characteristic curve (AUC) were pooled separately. Results: We retrieved 2,566 studies, of which 18 were finally enrolled, with 2,548 cases. The pooled sensitivity, specificity, PLR, NLR, and AUC for 3DUS were 0.89 (95% CI: 0.85-0.93), 0.93 (95% CI: 0.88-0.96), 13.1 (95% CI: 7.3-23.4), 0.11 (95% CI: 0.08-0.16), and 0.90 (95% CI: 0.87-0.93), respectively. The pooled sensitivity, specificity, PLR, NLR, and AUC for 3DPD were 0.90 (95% CI: 0.80-0.95), 0.85 (95% CI: 0.71-0.92), 5.8 (95% CI: 3.0-11.2), 0.12 (95% CI: 0.06-0.24), and 0.94 (95% CI: 0.91-0.96), respectively. The pooled sensitivity, specificity, PLR, NLR, and AUC for 3DUS combined with 3DPD were 0.99 (95% CI: 0.73-1.00), 0.95 (95% CI: 0.85-0.99), 21.9 (95% CI: 6.1-78.9), 0.01 (95% CI: 0.00-0.37), and 0.99 (95% CI: 0.98-1.00), respectively. Conclusions: 3DUS, 3DPD, and 3DUS combined with 3DPD are promising diagnostic tools for OC, alongside elevated sensitivity and specificity. However, the combination of 3DUS and 3DPD techniques has higher diagnostic efficiency. Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD 42023405765.

Serum exosomes lncRNAs: TCONS_I2_00013502 and ENST00000363624 are new diagnostic markers for rheumatoid arthritis.

The lack of diagnostic markers limits the window of effectiveness for rheumatoid arthritis (RA) therapies. Here, we isolated exosomes of serum samples from four distinct groups RA patients, according to disease activity and with/without medication. Then, total RNA of exosomes was extracted for whole-transcriptome sequencing. Focusing on lncRNA sequencing, gene ontology (GO) and kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analyses were performed. We found that the number of upregulated lncRNAs were significantly higher than that of downregulated lncRNAs in each four RA groups. And most importantly, we identified two specific lncRNAs from differentially expressed lncRNAs, TCONS_I2_00013502 (up-regulated) and ENST00000363624 (down-regulated) in RA. Receiver Operating Characteristic (ROC) curve analysis showed that the two lncRNAs were promising biomarkers for RA diagnosis. These findings highlight lncRNAs of the serum exosome are important biomarkers and provide application potential for diagnosis of RA.

Gamified Crowdsourcing as a Novel Approach to Lung Ultrasound Data Set Labeling: Prospective Analysis.

BACKGROUND: Machine learning (ML) models can yield faster and more accurate medical diagnoses; however, developing ML models is limited by a lack of high-quality labeled training data. Crowdsourced labeling is a potential solution but can be constrained by concerns about label quality. OBJECTIVE: This study aims to examine whether a gamified crowdsourcing platform with continuous performance assessment, user feedback, and performance-based incentives could produce expert-quality labels on medical imaging data. METHODS: In this diagnostic comparison study, 2384 lung ultrasound clips were retrospectively collected from 203 emergency department patients. A total of 6 lung ultrasound experts classified 393 of these clips as having no B-lines, one or more discrete B-lines, or confluent B-lines to create 2 sets of reference standard data sets (195 training clips and 198 test clips). Sets were respectively used to (1) train users on a gamified crowdsourcing platform and (2) compare the concordance of the resulting crowd labels to the concordance of individual experts to reference standards. Crowd opinions were sourced from DiagnosUs (Centaur Labs) iOS app users over 8 days, filtered based on past performance, aggregated using majority rule, and analyzed for label concordance compared with a hold-out test set of expert-labeled clips. The primary outcome was comparing the labeling concordance of collated crowd opinions to trained experts in classifying B-lines on lung ultrasound clips. RESULTS: Our clinical data set included patients with a mean age of 60.0 (SD 19.0) years; 105 (51.7%) patients were female and 114 (56.1%) patients were White. Over the 195 training clips, the expert-consensus label distribution was 114 (58%) no B-lines, 56 (29%) discrete B-lines, and 25 (13%) confluent B-lines. Over the 198 test clips, expert-consensus label distribution was 138 (70%) no B-lines, 36 (18%) discrete B-lines, and 24 (12%) confluent B-lines. In total, 99,238 opinions were collected from 426 unique users. On a test set of 198 clips, the mean labeling concordance of individual experts relative to the reference standard was 85.0% (SE 2.0), compared with 87.9% crowdsourced label concordance (P=.15). When individual experts' opinions were compared with reference standard labels created by majority vote excluding their own opinion, crowd concordance was higher than the mean concordance of individual experts to reference standards (87.4% vs 80.8%, SE 1.6 for expert concordance; P<.001). Clips with discrete B-lines had the most disagreement from both the crowd consensus and individual experts with the expert consensus. Using randomly sampled subsets of crowd opinions, 7 quality-filtered opinions were sufficient to achieve near the maximum crowd concordance. CONCLUSIONS: Crowdsourced labels for B-line classification on lung ultrasound clips via a gamified approach achieved expert-level accuracy. This suggests a strategic role for gamified crowdsourcing in efficiently generating labeled image data sets for training ML systems.

Characterizing Neurobehavioral Dysregulation Among Former American Football Players: Findings From the DIAGNOSE CTE Research Project.

OBJECTIVE: Neurobehavioral dysregulation (NBD), a core clinical feature of traumatic encephalopathy syndrome, encompasses neuropsychiatric symptoms reported among individuals with a history of repetitive head impact exposure, including contact sport athletes. The objective of this study was to examine the construct and subconstructs of NBD through a series of factor and cluster analyses. METHODS: Six clinician-scientists selected self-report questionnaire items relevant to NBD from seven available neuropsychiatric scales through a blinded voting process. These items were subjected to confirmatory factor analyses in a sample of 178 former college and professional American football players and 60 asymptomatic individuals without a history of repetitive head impact exposure. All participants were enrolled in the Diagnostics, Imaging, and Genetics Network for the Objective Study and Evaluation of Chronic Traumatic Encephalopathy Research Project. Factor scores were generated on the basis of the optimal expert-informed model for NBD. Construct validity was assessed with neuropsychiatric scales not included in generation of the factor scores. Cluster analyses with NBD factor scores were used to examine symptom profiles. RESULTS: Factor analyses confirmed that NBD was composed of four subconstructs: explosivity, emotional dyscontrol, impulsivity, and affective lability. Cluster analyses indicated four distinct symptom profiles of NBD in this group of former football players: asymptomatic (N=80, 45%), short fuse (N=33, 19%), high affective lability (N=34, 19%), and high NBD (N=31, 17%). CONCLUSIONS: These findings characterize NBD as a multifaceted clinical construct with a heterogeneous presentation, providing a foundation for empirical work on the diagnostic criteria for traumatic encephalopathy syndrome and research on the neurobiological underpinnings of NBD.

Rabson-Mendenhall Syndrome: Analysis of the Clinical Characteristics and Gene Mutations in 42 Patients.

Aims: Rabson-Mendenhall syndrome (RMS) is a rare autosomal, recessive disorder characterized by severe insulin resistance due to mutations in the insulin receptor (INSR) gene. This study aims to analyze the clinical features and gene mutations in RMS, which have not been extensively studied. Methods: PubMed, Embase, the China National Knowledge Infrastructure, and Wanfang were searched for "Rabson-Mendenhall syndrome" or "Black acanthosis hirsutism insulin resistance syndrome." Results: A total of 42 cases from 33 articles were included. The body mass index ranged from 18.50 to 20.00 kg/m2 with an average of 16.00 kg/m2. There were no overweight (25.00∼29.90 kg/m2) or obese (≥30.00 kg/m2) patients. Acanthosis was present in 29 cases (29/42, 69.05%); growth retardation in 25 cases (25/42, 59.52%); dental anomalies including absence of teeth, crowding, and malocclusion in 23 cases (23/42, 54.76%); and hirsutism in 17 cases (17/42, 40.48%). The average glycosylated hemoglobin was 9.35%, and the average fasting blood-glucose was 8.44 mmol/L; the mean fasting insulin was 349.96 µIU/mL, and the average fasting C-peptide was 6.00 ng/mL. Diabetes was reported in 25 cases (25/33, 75.76%) all of which were diagnosed before 23 years old. All 42 patients had recorded gene mutations, with 22 patients (22/42, 52.38%) having ≥ 2 mutations and 20 cases (20/42, 47.62%) having only 1 mutation. No statistical differences were found in clinical features and laboratory parameters between patients with different mutations. Conclusion: The study indicates that RMS should be considered in young patients with hyperinsulinemia, hyperglycemia with low weight, acanthosis nigricans, growth retardation, dental anomalies, and hirsutism.

Blood and urine biomarkers for the diagnosis of early stages of knee osteoarthritis: A systematic review.

Purpose: To identify biomarkers in human blood or urine at an early stage of knee osteoarthritis (OA) and to elucidate if any can accurately differentiate between healthy controls and early knee OA patients and be considered as a candidate for widespread clinical use for early diagnosis of the disease. Methods: Medline, Embase and Web of Science were screened to identify comparative studies measuring differences in blood or urine biomarkers between healthy controls and knee OA patients at an early stage (grade 1 or 2 Kellgren-Laurence). Two independent reviewers screened the abstracts for eligibility, reviewed the full texts, assessed the methodological quality and extracted the data. The Joanna Briggs Institute critical appraisal tool for diagnostic test accuracy studies was used to assess the quality of the included studies. Due to relevant heterogeneity, meta-analysis was not appropriate. Results: Five studies met the eligibility criteria. The examined biomarkers were adropin, collagen type II metabolite, C-terminal cross-linked telopeptide of type II collagen, C-terminal cross-linked telopeptide of type I collagen, cartilage oligomeric matrix protein, matrix metalloproteinase 3, N-terminal propeptide of procollagen type IIA, type I procollagen N-terminal propeptides, N-terminal osteocalcin, angiopoietin-2, follistatin, granulocyte colony-stimulating factor, hepatocyte growth factor, interleukin-8, leptin, platelet-derived growth factor-BB, platelet endothelial cell adhesion molecule-1, vascular endothelial growth factor and calprotectin and totalling 19 biomarkers. All of the biomarkers were studied only once in the selected papers. Conclusions: There is no reliable biomarker available to differentiate between early knee OA in patients and healthy controls, but a potential role of a cluster of biomarkers to close this gap. There are several limitations, including inappropriate study designs, small sample sizes, nonconsecutive patient groups and inadequate statistical methods for evaluating biomarker performance in studies included. Level of Evidence: Level III.

Security assessment and diagnosis for industrial water resources using TODIMSort considering Best-Worst Method with double hierarchy hesitant fuzzy linguistic term set.

Motivated by the driving force to address global water scarcity, industrial water resources, as the second largest consumption of water resources, its security assessment plays a crucial role in improving the current situation. Hence, this paper proposes a novel methodology to conduct the industrial water resources security (IWRS) assessment. Firstly, a more targeted assessment system based on the framework of the Pressure-State-Response (P-S-R) on IWRS is established. Then, enhanced with a double hierarchy hesitant fuzzy linguistic term set (DHHFLTS), the Best-Worst Method (BWM) now determines subjective weights through DHHFLTS-BWM (DF-BWM). By introducing the Criteria Importance Through Intercriteria Correlation (CRITIC) method, which considers the indicator interactions, objective weights are obtained to modify the subjective weights. Furthermore, the global dominance of all alternatives is calculated by a TODIMSort method and grading them. Moreover, 16 cities in Anhui Province are taken as examples to assess IWRS in the decade from 2011 to 2020. Comparative analysis with original BWM, time series analysis, sensitivity analysis on loss attenuation coefficient, coupling and coordination analysis and obstacle analysis on all indicators are conducted to verify the rationality, effectiveness, and stability of the proposed assessment methodology. Simultaneously, explore the existing issues within IWRS. It can be seen from the results that the performance of Lu'an and Huainan cities is relatively better, while Ma'anshan city shows relatively poorer performance. In addition, per capita water resources and wastewater treatment facilities have a significant impact on the IWRS. Finally, some management suggestions are proposed to enhance the scientific and effective management of industrial water resources and ensure their sustainable utilization.

A rare presentation of acute-onset chronic inflammatory demyelinating polyneuropathy with the detection of anti-GM3 and anti-sulfatides antibodies: a case report.

Objectives: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy defined by clinical progression for more than 2 months. 16-20% of CIDP patients may present with rapidly progressive weakness that resembles GBS, known as acute-onset CIDP (A-CIDP). However, it is challenging to distinguish from GBS-TRF because of their similar clinical symptom and features. In this case review, we report a patient with A-CIDP with the detection of anti-GM3 and anti-sulfatides antibodies, which rarely have been in A-CIDP and may account for her progressive and recurrent symptoms. Methods: We analyzed existing medical literature and described a clinical case of A-CIDP with antibodies positive. Results: We reported a 56-year-old female presented with bilateral lower extremity weakness and distal numbness. She experienced similar symptoms four times and responded well to the IVIg therapy. Lumbar puncture demonstrated albumin-cytologic dissociation and EDX examination revealed multiple peripheral nerve damage. After ruling out other demyelination diseases, a diagnosis of A-CIDP was made. Discussion: The antiganglioside and anti-sulfatide antibodies are involved in CIDP pathogenesis and can help to distinguish A-CIDP and other variants. To prevent secondary damage, it is important to monitor relapse and remission symptoms along the treatment line. A rare case of A-CIDP is discussed concerning the detection of anti-GM3 and anti-sulfatides antibodies, thus making a retrospective comparison of antibodies in some literature to understand A-CIDP better.

The Challenges in Clinical Diagnosis of Trigeminal Neuralgia: A Review.

The lack of established laboratory tests or biomarkers for trigeminal neuralgia (TN) makes diagnosing this relatively rare condition extremely challenging. Trigeminal nerve compression observable on magnetic resonance imaging may indicate TN, but many patients do not have visible lesions or compression. In particular, TN may be confused with migraine, cluster headache, temporomandibular disorder, and other types of headache. An accurate diagnosis is imperative for proper treatment since these conditions do not respond to the same treatment. Many symptoms of these headaches can be vague or overlap, and clinicians depend in large measure on the subjective reports of their patients. Nevertheless, it is imperative to diagnose TN better, which can cause excruciating pain, reduce the quality of life, and even result in disability. It is possible that TN is underestimated.

Erythroblastosis Transformation-Specific Regulated Gene 1 (ERG) Immunohistochemistry in the Diagnosis of Acute Myeloid Leukemia.

INTRODUCTION: The erythroblastosis transformation-specific regulated gene 1 (ERG) is a transcription factor that can be used as an immunohistochemical (IHC) marker in the diagnosis and prognostication of malignancy. ERG was initially used in prostate cancer; however, it is a useful marker in extramedullary myeloid disease. Patients with acute myeloid leukemia (AML), dry bone marrow aspirate, and CD34, CD117-negative blast cells can be in a diagnostic dilemma. This audit aimed to (a) validate ERG IHC in bone marrow trephine samples, (b) quantify ERG IHC positivity in an AML cohort, and correlate concordance with CD34 and CD117 IHC, when available, and (c) to see whether ERG is a useful adjunct in the diagnosis of cases of AML. METHODS: A retrospective audit was completed of all new and relapsed cases of AML over one year at a single center. For inclusion, patients needed a trephine specimen at presentation, and all had a hematoxylin and eosin(H&E) specimen, ERG IHC, and at least one or both of CD34 and CD117 IHC. Four pathologists independently assessed the stains quantitatively and qualitatively in comparison to the morphology seen on the H&E sample. The kappa value was used to assess agreement. RESULTS: Seventeen patients with AML met the inclusion criteria. All specimens had H&E, CD34, and ERG stains; 9/17 (53%) had CD117 IHC. ERG demonstrated high concordance with blast cells on H&E morphology, with a high agreement among pathologists. Qualitatively, pathologists recognized that ERG spared lymphoid nodules; however, it also stained granulocytes at various maturation stages. CONCLUSION: ERG is a sensitive marker for the diagnosis of AML. ERG can help visualize blast cells that have been confirmed by ancillary tests. More research into the utility of ERG in AML diagnostics is recommended.

Thymic Rosai-Dorfmann disease: a case report.

BACKGROUND: Rosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal involvement is observed in approximately 40% of RDD patients. RDD involving only the thymus has rarely been reported. Here, we report a case of RDD originating in the thymus. The lesion was surgically removed, and a cure was finally achieved. There was no recurrence after telephone follow-up for 3 years. CASE PRESENTATION: A 52-year-old male was accidentally found to have a 7 × 6 cm anterior mediastinum lump by chest computed tomography (CT). The mediastinal lesion was resected by surgery, and postoperative pathology revealed RDD originating from the thymus. Regular telephone follow-up after surgery lasted 3 years and showed that the patient remained in good condition without any relevant symptoms. CONCLUSIONS: RDD originating in the thymus cannot be characterized from CT images and is easily misdiagnosed as a traditional mediastinal tumor. This is mainly because there is so little disease in this area that physicians are not aware of it. We report this case with the hope that clinicians will have a better understanding of this disease. According to our follow-up results, surgery is an effective means of treatment.

Does an App a Day Keep the Doctor Away? AI Symptom Checker Applications, Entrenched Bias, and Professional Responsibility.

The growing prominence of artificial intelligence (AI) in mobile health (mHealth) has given rise to a distinct subset of apps that provide users with diagnostic information using their inputted health status and symptom information-AI-powered symptom checker apps (AISympCheck). While these apps may potentially increase access to health care, they raise consequential ethical and legal questions. This paper will highlight notable concerns with AI usage in the health care system, further entrenchment of preexisting biases in the health care system and issues with professional accountability. To provide an in-depth analysis of the issues of bias and complications of professional obligations and liability, we focus on 2 mHealth apps as examples-Babylon and Ada. We selected these 2 apps as they were both widely distributed during the COVID-19 pandemic and make prominent claims about their use of AI for the purpose of assessing user symptoms. First, bias entrenchment often originates from the data used to train AI systems, causing the AI to replicate these inequalities through a "garbage in, garbage out" phenomenon. Users of these apps are also unlikely to be demographically representative of the larger population, leading to distorted results. Second, professional accountability poses a substantial challenge given the vast diversity and lack of regulation surrounding the reliability of AISympCheck apps. It is unclear whether these apps should be subject to safety reviews, who is responsible for app-mediated misdiagnosis, and whether these apps ought to be recommended by physicians. With the rapidly increasing number of apps, there remains little guidance available for health professionals. Professional bodies and advocacy organizations have a particularly important role to play in addressing these ethical and legal gaps. Implementing technical safeguards within these apps could mitigate bias, AIs could be trained with primarily neutral data, and apps could be subject to a system of regulation to allow users to make informed decisions. In our view, it is critical that these legal concerns are considered throughout the design and implementation of these potentially disruptive technologies. Entrenched bias and professional responsibility, while operating in different ways, are ultimately exacerbated by the unregulated nature of mHealth.

Age was a protective factor for unexpected malignant diagnoses in patients with vertebral compression fracture.

OBJECTIVE: The purpose was to investigate the risk factors for unexpected malignant diagnoses in patients with vertebral compression fractures (VCF). METHODS: The clinical data were retrospectively collected from 1396 patients who underwent vertebral augmentation and biopsy between 2012 and 2022. According to the imaging results, the preoperative diagnoses were benign VCF (BVCF) in all these cases. Based on the histological findings, the patients were divided into two groups. In group A, unexpected malignant VCF (MVCF) was identified, while benign VCF (BVCF) was verified in group B. Logistic regression analysis was performed to analyze the risk and protective factors for unexpected malignant diagnoses. RESULTS: There were 44 patients in group A and 1352 in group B. The incidence of unexpected MVCF was 3.2 %. Age was significantly lower in group A compared to group B. Additionally, none of the patients in group A were older than 75. Age was associated with unexpected malignant diagnoses, according to the univariate logistic analysis. The multivariate logistic analysis showed that age was a protective factor for unexpected malignant diagnoses (odds ratio = 0.849, 95 % confidence interval: 0.809-0.891, p < 0.01). CONCLUSION: Age was a protective factor for unexpected malignant diagnoses in patients with preoperative diagnosis of BVCF. A routine biopsy is recommended to be performed during vertebral augmentation in young patients without preoperative imaging evidence of MVCF.

A highly malignant succinate dehydrogenase A­deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report.

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants of the SDH gene. SDH mutations are associated with an increased risk of developing RCC, although studies describing SDH-deficient RCC are currently limited. The present study reported a case of SDH-deficient RCC with high malignancy and rare bone metastasis. The patient was diagnosed with a right renal mass through B-mode ultrasound imaging and showed a carcinoma embolus in the right renal vein and inferior vena cava through kidney contrast-enhanced computed tomography. A whole-body bone scan showed radionuclide accumulation in the upper end of the left humerus, which indicated possible pathological bone destruction. As a result, surgical resection was performed. The postoperative pathology indicated a high-grade RCC and although the specific classification remained uncertain, hereditary leiomyomatosis and RCC was suspected. Subsequently, a germline mutation of the succinate dehydrogenase complex flavoprotein subunit A gene was identified through high-throughput sequencing (c.1A>G, p. Met1?) and immunohistochemistry demonstrated the loss of succinate dehydrogenase complex flavoprotein subunit B expression. Postoperatively, the patient underwent radiotherapy and targeted therapy. After 6 months of follow-up treatment, there was no indication of recurrence or metastasis on thoracoabdominal CT and whole-body bone scintigraphy. Based on the present report, germline screening should potentially be encouraged in early-onset patients as family history or pathological results may not provide sufficient information for the early, differential diagnosis of SDH-deficient RCC.