On the role of the UMLS in supporting diagnosis generation proposed by Large Language Models.

OBJECTIVE: Traditional knowledge-based and machine learning diagnostic decision support systems have benefited from integrating the medical domain knowledge encoded in the Unified Medical Language System (UMLS). The emergence of Large Language Models (LLMs) to supplant traditional systems poses questions of the quality and extent of the medical knowledge in the models' internal knowledge representations and the need for external knowledge sources. The objective of this study is three-fold: to probe the diagnosis-related medical knowledge of popular LLMs, to examine the benefit of providing the UMLS knowledge to LLMs (grounding the diagnosis predictions), and to evaluate the correlations between human judgments and the UMLS-based metrics for generations by LLMs. METHODS: We evaluated diagnoses generated by LLMs from consumer health questions and daily care notes in the electronic health records using the ConsumerQA and Problem Summarization datasets. Probing LLMs for the UMLS knowledge was performed by prompting the LLM to complete the diagnosis-related UMLS knowledge paths. Grounding the predictions was examined in an approach that integrated the UMLS graph paths and clinical notes in prompting the LLMs. The results were compared to prompting without the UMLS paths. The final experiments examined the alignment of different evaluation metrics, UMLS-based and non-UMLS, with human expert evaluation. RESULTS: In probing the UMLS knowledge, GPT-3.5 significantly outperformed Llama2 and a simple baseline yielding an F1 score of 10.9% in completing one-hop UMLS paths for a given concept. Grounding diagnosis predictions with the UMLS paths improved the results for both models on both tasks, with the highest improvement (4%) in SapBERT score. There was a weak correlation between the widely used evaluation metrics (ROUGE and SapBERT) and human judgments. CONCLUSION: We found that while popular LLMs contain some medical knowledge in their internal representations, augmentation with the UMLS knowledge provides performance gains around diagnosis generation. The UMLS needs to be tailored for the task to improve the LLMs predictions. Finding evaluation metrics that are aligned with human judgments better than the traditional ROUGE and BERT-based scores remains an open research question.

[Migraine and pregnancy : Gender-specific aspects and current knowledge]. / Migräne und Schwangerschaft : Geschlechtsspezifische Aspekte und aktuelles Wissen.

BACKGROUND: Migraine, a frequent and debilitating neurological disease, shows gender-specific differences in prevalence and severity. Pregnancy is associated with numerous unique features in terms of migraine course, treatment options and differential diagnoses. OBJECTIVES: How does pregnancy influence the course of migraine? What are the possible treatment options during pregnancy? Which differential diagnoses should be considered? MATERIAL AND METHODS: Narrative review with summary and discussion of relevant studies and guidelines on migraine in pregnancy. RESULTS: During pregnancy up to three quarters of women experience improvement of their migraine; however, there may be a renewed increase in frequency after childbirth. Choosing an appropriate treatment during pregnancy requires a careful risk-benefit assessment. It is important to consider secondary causes of headache as these can occur more frequently during pregnancy and some can be life-threatening. CONCLUSION: Consideration of specific aspects of migraine in pregnancy is crucial to be able to develop the best possible treatment strategies for affected patients.

Central and Peripheral Nervous System Complications of Vasculitis Syndromes from Pathology to Bedside: Part 2-Peripheral Nervous System.

PURPOSE OF REVIEW: Peripheral nervous system vasculitides (PNSV) are a heterogeneous group of disorders with a clinical subset that may differ in prognosis and therapy. We provide a comprehensive update on the clinical assessment, diagnosis, complications, treatment, and follow-up of PNSV. RECENT FINDINGS: Progress in neuroimaging, molecular testing, and peripheral nerve biopsy has improved clinical assessment and decision-making of PNSV, also providing novel insights on how to prevent misdiagnosis and increase diagnostic certainty. Advances in imaging techniques, allowing to clearly display the vessel walls, have also enhanced the possibility to differentiate inflammatory from non-inflammatory vascular lesions, while recent histopathology data have identified the main morphological criteria for more accurate diagnosis and differential diagnoses. Overall, the identification of peculiar morphological findings tends to improve diagnostic accuracy by defining a clearer boundary between systemic and non-systemic neuropathies. Therefore, the definition of epineurium vessel wall damage, type of vascular lesion, characterization of lymphocyte populations, antibodies, and inflammatory factors, as well as the identification of direct nerve damage or degeneration, are the common goals for pathologists and clinicians, who will both benefit for data integration and findings translation. Nevertheless, to date, treatment is still largely empiric and, in some cases, unsatisfactory, thus often precluding precise prognostic prediction. In this context, new diagnostic techniques and multidisciplinary management will be essential in the proper diagnosis and prompt management of PNSV, as highlighted in the present review. Thirty to fifty percent of all patients with vasculitis have signs of polyneuropathy. Neuropathies associated with systemic vasculitis are best managed according to the guidelines of the underlying disease because appropriate workup and initiation of treatment can reduce morbidity. Steroids, or in severe or progressive cases, cyclophosphamide pulse therapy is the standard therapy in non-systemic vasculitic neuropathies. Some patients need long-term immunosuppression. The use of novel technologies for high-throughput genotyping will permit to determine the genetic influence of related phenotypes in patients with PNSV.

Enhancing Multi-disease Diagnosis of Chest X-rays with Advanced Deep-learning Networks in Real-world Data.

The current artificial intelligence (AI) models are still insufficient in multi-disease diagnosis for real-world data, which always present a long-tail distribution. To tackle this issue, a long-tail public dataset, "ChestX-ray14," which involved fourteen (14) disease labels, was randomly divided into the train, validation, and test sets with ratios of 0.7, 0.1, and 0.2. Two pretrained state-of-the-art networks, EfficientNet-b5 and CoAtNet-0-rw, were chosen as the backbones. After the fully-connected layer, a final layer of 14 sigmoid activation units was added to output each disease's diagnosis. To achieve better adaptive learning, a novel loss (Lours) was designed, which coalesced reweighting and tail sample focus. For comparison, a pretrained ResNet50 network with weighted binary cross-entropy loss (LWBCE) was used as a baseline, which showed the best performance in a previous study. The overall and individual areas under the receiver operating curve (AUROC) for each disease label were evaluated and compared among different models. Group-score-weighted class activation mapping (Group-CAM) is applied for visual interpretations. As a result, the pretrained CoAtNet-0-rw + Lours showed the best overall AUROC of 0.842, significantly higher than ResNet50 + LWBCE (AUROC: 0.811, p = 0.037). Group-CAM presented that the model could pay the proper attention to lesions for most disease labels (e.g., atelectasis, edema, effusion) but wrong attention for the other labels, such as pneumothorax; meanwhile, mislabeling of the dataset was found. Overall, this study presented an advanced AI diagnostic model achieving a significant improvement in the multi-disease diagnosis of chest X-rays, particularly in real-world data with challenging long-tail distributions.

Differential Diagnoses of Pediatric Upper Limb Masses.

PURPOSE: Upper limb masses are one of the most common presentations in the outpatient setting. However, there is a paucity of information in the literature regarding the epidemiology of upper-extremity masses in the pediatric population. The aim of this study was to determine the differential diagnoses and clinical characteristics in children aged ≤18 years presenting with upper limb masses. METHODS: A retrospective review of patients aged ≤18 years managed at our institution over a 5-year period was performed. We obtained information on patient demographics, clinical features, radiological investigations, intraoperative features, and histology. We also evaluated the correlation between the clinical and histopathological diagnoses in patients who underwent surgery. RESULTS: There were 141 upper limb masses in our series. The mean age at presentation was 12 years (SD, 5 years). The most common presenting complaints were asymptomatic swelling, pain, and paresthesia. The majority (128; 91%) of tumors were benign; there were 5 locally aggressive tumors and 6 malignant tumors. The dominant hand was involved in 60 patients. Of 140 patients, 43 (31%) patients had surgery. The procedures included incisional biopsy, excisional biopsy, wide resection, and reconstruction. One patient required a below elbow amputation for an osteosarcoma. CONCLUSIONS: Ten percent of cases represented malignant or locally aggressive disease. We have used our observations to develop a clinical algorithm that can assist clinicians in evaluating and managing children and adolescents presenting with upper-extremity masses. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

The efficacy of incorporating ultrasound-guided core biopsy into the clinical workflow of indeterminate thyroid tumors.

BACKGROUND: Ultrasound-guided core biopsy (USCB) is a minimally invasive sampling procedure which may help to confirm the diagnoses of the thyroid tumors with indeterminate results of ultrasound-guided fine-needle aspiration (USFNA). Although with potential advantages, the working protocol of introducing USCB in the routine practice has not been established yet. This study aims to evaluate the efficacy of USCB when it is included in the clinical workflow of assessing the thyroid tumors with indeterminate USFNA results after a long-term follow up. METHODS: Between 2009 and 2016, consecutive patients receiving thyroid USFNA were reviewed retrospectively in the tertiary referral hospital. The patients, who finally received USCB for their thyroid tumors after repeated indeterminate USFNA results, were recruited. The important sonographic features in facilitating specific diagnoses by USCB, differentiating malignancy from benignity, and confirming origins of thyroid tumors were analyzed and the role of USCB was investigated. RESULTS: Thirty-nine patients met the inclusion criteria were analyzed. The specific diagnoses were confirmed in 23 patients (59%) by USCB. Taller than wide, ill-defined margin and hypoechogenicity helped in differentiating malignant tumors and the latter two features were pertinent to the success of applying USCB for specific diagnosis. No sonographic features were able to differentiate the thyroid malignancy from extra-thyroid origins exclusively. Thyroid USCB facilitated clinical decision making in 37 of the 39 patients (94.9%) with indeterminate USFNA results. CONCLUSION: The USCB is a cost-effective sampling procedure for confirming the diagnosis of indeterminate thyroid tumors and their clinical management, especially for those malignancies from extra-thyroid origins.

Maternal deaths in Australia from ruptured splenic artery aneurysms.

The rupture of a splenic artery aneurysm (SAA) in pregnancy is a highly lethal condition, but so rare that most obstetricians would not encounter it during their career. In the seven official 'Maternal Deaths in Australia' reports, that covered 21 years from 1997 to 2017, among a total of 449 direct and indirect deaths, there were nine deaths (2%) from a ruptured SAA. These cases, and other cases from the literature and the Cochrane Library, are reviewed. The aim of the review is to raise awareness among clinicians of this potentially fatal condition.

[Intraoperative transesophageal echocardiography for emergency diagnostics in noncardiac surgery patients]. / Intraoperative transösophageale Echokardiographie als Notfalldiagnostik bei nichtkardiochirurgischen Patienten.

Due to the development of compact and mobile devices, transesophageal echocardiography (TEE) is now being used as one important point-of-care diagnostic method in emergency rooms, intensive care units and operating rooms. In the first part of this advanced training series, general aspects of the examination method and the procedure as well as indications and contraindications were outlined. In addition, an overview of application areas beyond cardiac surgery in which TEE can be used to monitor the patient or to assist with the operative procedure was provided. In the second part, the main findings during intraoperative TEE in the event of hemodynamic instability or unexplained hypoxemia are presented. A shortened emergency examination as proposed by Reeves et al. is outlined. The article concludes with an outlook on semiautomatic interpretation software and computer-aided image acquisition.

[Management of joint empyema]. / Management von Gelenkempyemen.

Joint empyema, also known as septic arthritis, is a severe disease associated with considerable morbidity and mortality. Failing to initiate immediate treatment can result in irreversible joint destruction within a short time. The knee joint is most frequently involved, followed by the shoulder and hip joints. Small joints are rarely affected. Typical risk factors include immunosuppression, renal insufficiency, diabetes mellitus and previous joint interventions. An early targeted diagnostic work-up and initiation of therapeutic steps is crucial to avoid irreversible joint destruction. Joint aspiration for diagnostic purposes is essential and should be performed immediately when a septic arthritis is suspected. An important differential diagnosis is metabolic arthritis (gout and chondrocalcinosis), which typically presents in a similar way. A differentiation from septic arthritis is important as metabolic arthritis requires a completely different treatment. After confirming the diagnosis, treatment consisting of a surgical procedure combined with antibiotics is initiated. In most cases an arthroscopic intervention is sufficient. In severe cases the arthroscopy needs to be repeated. An arthrotomy must be carried out only rarely. A pre-emptive antibiotic treatment is initially administered and is later adjusted according to the resistogram. This article gives an overview on the pathophysiology, diagnostics and general management of joint empyema.

Use of Educational Puzzles for Learning Concepts of Clinical Diagnostic Imaging in Veterinary Medicine.

Learning the concepts of clinical radiology, including lesion identification and formulation of differential diagnosis lists, can be challenging for veterinary students. A series of educational puzzles with an overarching narrative was developed to help students learn the fundamental concepts of urogenital, thoracic, and spine imaging. Third-year veterinary students had the opportunity to use as many of the puzzles as they wished as a part of their studies in a semester-long imaging course, and students completed surveys to indicate which puzzle sections they used and provide their opinions of the activities. Graded performance in the course was correlated with how many puzzle activities students used. A small but statistically significant correlation was found between the number of puzzle sections used and midterm exam score, final exam score, and overall course score. Although most students who used the puzzles as a part of their studies enjoyed the activities, there was a dramatic decrease in usage over the semester, from 74% of survey respondents using the initial topic to a low of 27% utilization of the sixth topic, followed by a small rebound to 37% for the eighth topic (the review for the final exam). Thus, while developing a puzzle series is achievable and beneficial to student learning, possibly because of improved student engagement through increased variety in learning opportunities, further steps are necessary to encourage continued student engagement throughout the semester.

Intersecting Paths of Emerging and Reemerging Infectious Diseases.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) shares common clinicopathologic features with other severe pulmonary illnesses. Hantavirus pulmonary syndrome was diagnosed in 2 patients in Arizona, USA, suspected of dying from infection with SARS-CoV-2. Differential diagnoses and possible co-infections should be considered for cases of respiratory distress during the SARS-CoV-2 pandemic.

Differential diagnoses of severe COVID-19 in tropical areas: the experience of Reunion Island.

OBJECTIVE: To identify the differential diagnoses of severe COVID-19 and the distinguishing characteristics of critically ill COVID-19 patients in Reunion Island to help improve the triage and management of patients in this tropical setting. METHODS: This retrospective observational study was conducted from 11 March to 4 May 2020 in the only intensive care unit (ICU) authorised to manage COVID-19 patients in Reunion Island, a French overseas department located in the Indian Ocean region. All patients with unknown COVID-19 status were tested by polymerase chain reaction (PCR) on ICU admission; those who tested negative were transferred to the COVID-19-free area of the ICU. RESULTS: Over the study period, 99 patients were admitted to our ICU. A total of 33 patients were hospitalised in the COVID-19 isolation ward, of whom 11 were positive for COVID-19. The main differential diagnoses of severe COVID-19 were as follows: community-acquired pneumonia, dengue, leptospirosis causing intra-alveolar haemorrhage and cardiogenic pulmonary oedema. The median age of COVID-19-positive patients was higher than that of COVID-19-negative patients (71 [58-74] vs. 54 [46-63.5] years, P = 0.045). No distinguishing clinical, biological or radiological characteristics were found between the two groups of patients. All COVID-19-positive patients had recently travelled or been in contact with a recent traveller. CONCLUSIONS: In Reunion Island, dengue and leptospirosis are key differential diagnoses of severe COVID-19, and travel is the only distinguishing characteristic of COVID-19-positive patients. Our findings apply only to the particular context of Reunion Island at this time of the epidemic.

Femoral nerve compression caused by a hibernoma in the right thigh: a case report and literature review.

BACKGROUND: A hibernoma, also known as a brown fat tumor, is a rare benign soft tissue tumor, which originates from brown adipose tissue remaining in the fetus after the gestational period. It is often detected in adult men, presenting as a painless slow-growing mass. Hibernomas of the thigh have been reported; however, motor and sensory disorders caused by the tumors compressing the femoral nerve have not been reported. We report a case of a histopathologically proven hibernoma that induced femoral mononeuropathy. CASE PRESENTATION: A 26-year-old man was admitted to the hospital due to a mass, approximately 11.0 × 9.0 × 4.0 cm in size, that had developed 5 years ago in the anterolateral aspect of the proximal thigh. Furthermore, he had a history of hypoesthesia 1 month prior to his admission. He had signs and symptoms of both a motor and sensory disorder, involving the anterior aspect of the right thigh and the medial aspect of the calf, along the distribution of the femoral nerve. During surgery, the femoral nerve was found to be compressed by the giant tumor. The resultant symptoms probably caused the patient to seek medical care. Marginal resection of the mass was performed by careful dissection, and the branches of the femoral nerve were spared. Histopathology examination showed findings suggestive of a hibernoma. At the 4-month follow-up, no femoral nerve compression was evident, and local tumor recurrence or metastasis was not found. CONCLUSIONS: Asymptomatic hibernomas do not require treatment; however, in cases of hibernomas with apparent symptoms, complete marginal surgical excision at an early stage is a treatment option because it is associated with a low risk of postoperative tumor recurrence.

[Overview: granulomatous diseases of the lung]. / Übersicht: Granulomatöse Erkrankungen der Lunge.

The spectrum of pulmonary granulomatoses is wide and includes infectious and noninfectious entities, each with very different therapeutic consequences. The first step of histological examination discriminates between necrotizing and non-necrotizing granulomatosis. After this, an infectious cause of the granulomatosis has to be excluded by special histological stains and molecular-pathologic methods, if necessary. Diagnosis also includes clinical, radiological, and microbiological findings. The process of pathological examination should be standardized as described.

[How I explore a non-traumatic gonalgia]. / Comment j'explore une gonalgie non traumatique.

Because the knee is the joint of the human body with the largest surface, it is no wonder that gonalgia is one of the most common complaints in the general population. Although the management of a painful traumatic knee is relatively well standardized, that of a non-traumatic knee pain is less codified. History and a rigorous systematic clinical examination play a key role in the management of nontraumatic gonalgia. The diagnostic approach is mainly guided by the inflammatory or mechanical nature of the pain and its topography. This article aims to clarify the diagnostic approach to gonalgia without notion of prior trauma.

Le genou étant la plus grosse articulation du corps humain en termes de surface, il n'est pas étonnant que la gonalgie compte parmi les plaintes les plus fréquentes de la population générale. Bien que la prise en charge d'un genou douloureux traumatique soit relativement bien standardisée, celle d'une gonalgie non traumatique est moins codifiée. L'anamnèse systématique et un examen clinique rigoureux jouent un rôle clé dans la prise en charge de la gonalgie non traumatique. L'orientation diagnostique est principalement guidée par le caractère inflammatoire ou mécanique de la douleur et sa topographie. Cet article vise à éclaircir la démarche diagnostique face à des gonalgies sans notion de traumatisme.

[Parosteal low-grade osteosarcoma with focal differentiation]. / Parossales Low-grade-Osteosarkom mit fokaler Dedifferenzierung.

This case study deals with the case of a 16-year-old male patient with a low-grade parosteal osteosarcoma of the distal femur with focal differentiation. Case history, disease course, and surgery as well as the pathological workup with final diagnosis are presented. Relevant radiologic and pathologic differential diagnoses und diagnostic pitfalls are explained in detail and discussed. Additionally, postoperative treatment options are illustrated.

[Autism spectrum disorder in childhood and adults: diagnosis and differential diagnoses]. / Autismus-Spektrum-Störungen im Kindes- und Erwachsenenalter: Diagnose und Differenzialdiagnosen.

Autistic disorders are summarized in DSM­5 under the term autism spectrum disorder (ASD) and are severe, lifelong, pervasive neurodevelopmental disorders. Core features manifested even in childhood are impairments in social interaction and communication as well as restricted and repetitive behavior. The intensity of symptoms, language and cognitive impairments vary but the majority of affected individuals have below average intelligence and 80% have at least one comorbid disorder. The diverse pathology and heterogeneity in phenotypes are caused by a complex genetic etiology, which is associated with a reduced synaptic plasticity of neural networks. The disorder is associated with a clearly reduced quality of life as well as a high familial burden. The differential diagnostics have a high relevance and the diagnosis should be carried out by specialized institutions. Behavioral therapeutic interventions are indicated.

Developing a new intelligent system for the diagnosis of oral medicine with case-based reasoning approach.

OBJECTIVE: Since the clinical manifestations of many oral diseases can be quite similar despite the wide variety in etiology and pathology, the differential diagnosis of oral diseases is a complex and challenging process. Intelligent system for differential diagnosis of oral medicine using the artificial intelligence (AI) capabilities helps specialists in achieving differential diagnosis in a wide range of oral diseases. MATERIALS AND METHODS: First, the essential data elements to design and develop an intelligent system were identified in a cross-sectional descriptive study. The case-based reasoning method was selected to design and implement the system, which consists of three stages: collect the clinical data, construct the cases database, and case-based reasoning cycle. The problem is solved by CBR method in a cycle consisting of four main stages of retrieval, reuse, review, and retention. The evaluation process was conducted in a pilot-based way through the evaluation of the system's performance in the clinical setting and also using the usability assessment questionnaire. RESULTS: The output of the present project is a web-based intelligent information system, which is developed using the Visual Studio 2015 software. The database of this system is the Microsoft SQL Server version 2012, which has been programmed based on Net framework (version 4.5 or higher) using Visual Basic language. The results of the system evaluation by specialists in clinical settings showed that the system's diagnosis power in different aspects of the disease is influenced by their prevalence and incidence. CONCLUSIONS: System development using the artificial intelligence capabilities and through the clinical data analysis has potential to help specialists to determine the best diagnostic strategy to achieve a differential diagnosis of a wide range of oral diseases. The results of evaluation present the potential of the system to improve the quality and efficiency of patient care.

[The coexistence of spinal canal stenosis in fragility fractures of the spine]. / Die Koexistenz der Spinalkanalstenose in der Alterstraumatologie.

BACKGROUND: In trauma care of fragility fractures of the spine, degenerative stenosis is often seen as an accompanying pathology. This may lead to a possible compression of neurogenic structures. The stenosis of the spinal canal can manifest itself with clinically significant complaints before the fracture occurs. This coexistence may have an impact on the injury itself or may provoke a complicated treatment of the fracture. AIM: The aim of this work is to differentiate these pathophysiologies and their merger in terms of clinical diagnostics and treatment options. DIFFERENTIAL DIAGNOSIS: The differential diagnosis is difficult and is often inadequately appreciated in everyday clinical life. The etiology and pathophysiology of both entities show, in several aspects, a congruence that enables joint treatment. If the indication is set for the decompression of a stenosing fracture, a pre-existing relevant stenosis can be addressed in the same session. Conversely, significant degenerative stenosis accompanying a fracture may lead to the indication of decompression.