Pediatric blood cultures-turning up the volume: a before and after intervention study.

The major determinant of blood culture (BC) diagnostic performance is blood volume, and pediatric sample volumes are frequently low. We aimed to assess BC volumes in our institution, design an intervention to increase volumes, and assess its impact. All pediatric BCs submitted over a 7-month period to the microbiology laboratory in a university hospital (including emergency department, pediatric ward, and neonatal unit) were included. A pre-intervention period assessed current practice. A multi-faceted intervention (education, guideline introduction, active feedback strategies) was collaboratively designed by all stakeholders. Impact was assessed in a post-intervention period. The main outcome measures included the percentage of samples adequately filled using three measures of sample adequacy (1) manufacturer-recommended minimum validated volume-> 0.5 ml, (2) manufacturer-recommended optimal minimum volume-> 1.0 ml, (3) newly introduced age-specific recommendations. Three hundred ninety-eight pre-intervention and 388 post-intervention samples were included. Initial volumes were low but increased significantly post-intervention (median 0.77 ml vs. 1.52 ml), with multivariable regression analysis estimating volumes increased 89% post-intervention. There were significant increases in all measures of volume adequacy, including an increase in age-appropriate filling (20.4-53.1%), with less improvement in those aged > 3 years. Overall, 68.4% of pathogens were from adequately filled cultures, while 76% of contaminants were from inadequately filled cultures. A pathogen was detected in a higher proportion of adequately filled than inadequately filled cultures (9.4% vs. 2.2%, p < 0.001).  Conclusion: Blood volume impacts BC sensitivity, with lower volumes yielding fewer pathogens and more contaminants. Focused intervention can significantly improve volumes to improve diagnostic performance. What is Known: • Blood volume is the major determinant of blood culture positivity, and yet pediatric blood culture volumes are frequently low, resulting in missed pathogens and increased contamination. What is New: • Adequately filled (for age) blood cultures have a pathogen detection rate three times higher than inadequately filled blood cultures. • This interventional study shows that collaboratively designed multi-modal interventions including focus on accurate volume measurement can lead to significant increases in blood volumes and improve blood culture diagnostic performance.

Portuguese observational cross-sectional clinical imaging study protocol to investigate central dopaminergic mechanisms of successful weight loss through bariatric surgery.

INTRODUCTION: Bariatric surgery (BS) is the treatment of choice for refractory obesity. Although weight loss (WL) reduces the prevalence of obesity-related comorbidities, not all patients maintain it. It has been suggested that central mechanisms involving dopamine receptors may play a role in successful WL. This protocol describes an observational cross-sectional study to test if the binding of central dopamine receptors is similar in individuals who responded successfully to BS and age- and gender-matched normal-weight healthy individuals (controls). As secondary goals, the protocol will investigate if this binding correlates with key parameters such as age, hormonal status, anthropometric metrics and neurobehavioural scores. Finally, as exploratory goals, we will include a cohort of individuals with obesity before and after BS to explore whether obesity and type of BS (sleeve gastrectomy and Roux-en-Y gastric bypass) yield distinct binding values and track central dopaminergic changes resulting from BS. METHODS AND ANALYSIS: To address the major research question of this observational study, positron emission tomography (PET) with [11C]raclopride will be used to map brain dopamine type 2 and 3 receptors (D2/3R) non-displaceable binding potential (BPND) of individuals who have successfully responded to BS. Mean regional D2/3R BPND values will be compared with control individuals by two one-sided test approaches. The sample size (23 per group) was estimated to demonstrate the equivalence between two independent group means. In addition, these binding values will be correlated with key parameters to address secondary goals. Finally, for exploratory analysis, these values will be compared within the same individuals (before and after BS) and between individuals with obesity and controls and types of BS. ETHICS AND DISSEMINATION: The project and informed consent received ethical approval from the Faculty of Medicine and the Coimbra University Hospital ethics committees. Results will be disseminated in international peer-reviewed journals and conferences.

Performance of home-based and ambulatory blood pressure monitoring in obese children and their correlation with end organ damage.

BACKGROUND: The increasing prevalence of childhood obesity has led to a corresponding increase in hypertension among children, necessitating early identification of subclinical target organ damage for accurate cardiovascular risk assessment. However, in the pediatric population, there is a paucity of literature comparing ambulatory and home blood pressure monitoring, and this knowledge gap is exacerbated by limited access to ambulatory blood pressure monitoring (ABPM) facilities, particularly in developing countries, where pediatricians often resort to home blood BP monitoring as the preferred option. METHOD: In this cross-sectional study with 60 obese children (aged 5-18 years) at a tertiary health care in central India, we aimed to comprehensively characterize blood pressure profiles, including office, ambulatory and home and investigated their correlations with indicators of end-organ damage. RESULT: Among 60 children, 26 (43.3%) participants were found to be hypertensive based on 24 Hr ABPM evaluation. Masked hypertension and white coat hypertension (WCH) were observed in 21.6% and 13.3% respectively. Surprisingly, 20% of participants were identified as hypertensive through 7-day home BP monitoring (HBPM). A notable discordance of 36.6% was between HBPM and ABPM results. Moreover, 26.7% of the children had end-organ damage, with higher odds associated with night-time systolic ambulatory hypertension in the adjusted regression model (OR = 1.06, 95% CI: 1.03-1.10, p < 0.001). CONCLUSION: The study highlights 24-hour ABPM's vital role in classifying hypertensive status, especially in high-risk children. The diagnostic performance of HBPM shows poor sensitivity in detecting MH and lower specificity in identifying WCH compared to ABPM. This limitation translates to missed opportunities for early preventive interventions.

Diagnostic accuracy and cellular origin of pleural fluid CXCR3 ligands for tuberculous pleural effusion.

BACKGROUND: Pleural biomarkers represent potential diagnostic tools for tuberculous pleural effusion (TPE) due to their advantages of low cost, short turnaround time, and less invasiveness. This study evaluated the diagnostic accuracy of two CXCR3 ligands, C-X-C motif chemokine ligand 9 (CXCL9) and CXCL11, for TPE. In addition, we investigated the cellular origins and biological roles of CXCL9 and CXCL11 in the development of TPE. METHODS: This double-blind study prospectively enrolled patients with undiagnosed pleural effusion from two centers (Hohhot and Changshu) in China. Pleural fluid on admission was obtained and levels of CXCL9 and CXCL11 were measured by an enzyme-linked immunosorbent assay (ELISA). The receiver operating characteristic (ROC) curve and the decision curve analysis (DCA) were used to evaluate their diagnostic accuracy and net benefit, respectively. THP-1 cell-derived macrophages were treated with Bacillus Calmette-Guérin (BCG), and quantitative real-time PCR (qRT-PCR) and ELISA were used to determine the mRNA and protein levels of CXCL9 and CXCL11. The chemoattractant activities of CXCL9 and CXCL11 for T helper (Th) cells were analyzed by a transwell assay. RESULTS: One hundred and fifty-three (20 TPEs and 133 non-TPEs) patients were enrolled in the Hohhot Center, and 58 (13 TPEs and 45 non-TPEs) were enrolled in the Changshu Center. In both centers, we observed increased CXCL9 and CXCL11 in TPE patients. The areas under the ROC curves (AUCs) of pleural CXCL9 and CXCL11 in the Hohhot Center were 0.70 (95 % CI: 0.55-0.85) and 0.68 (95 % CI: 0.52-0.84), respectively. In the Changshu Center, the AUCs of CXCL9 and CXCL11 were 0.96 (95 % CI: 0.92-1.00) and 0.97 (95 % CI: 0.94-1.00), respectively. The AUCs of CXCL9 and CXCL11 decreased with the advancement of age. The decision curves of CXCL9 and CXCL11 showed net benefits in both centers. CXCL9 and CXCL11 were upregulated in BCG-treated macrophages. Pleural fluid from TPE and conditioned medium from BCG-treated macrophages were chemotactic for Th cells. Anti-CXCL9 or CXCL11 neutralizing antibodies could partly block the chemotactic activity. CONCLUSIONS: Pleural CXCL9 and CXCL11 are potential diagnostic markers for TPE, but their diagnostic accuracy is compromised in elderly patients. CXCL9 and CXCL11 can promote the migration of peripheral Th cells, thus representing a therapeutic target for the treatment of TPE.

Havana syndrome: Overview for otolaryngologists.

Havana Syndrome is used to describe the array of deficits seen in diplomats stationed in Cuba from August 2016 to September 2017.1 Patients from this cohort were clinically studied, investigating their symptoms, audition and vestibular deficits, and imaging abnormalities seen on MRI.1-3 The primary studies were retrospective, looking at how these symptoms could be classified or fit into diagnostic criteria. The cohort had many similarities: a sound at the onset of symptoms, a mix of neurologic and otologic symptoms, and persistent symptoms that lasted for months.1-3 Theories of the cause of Havana Syndrome have led to no conclusive answer. Potential viral etiologies, mass psychogenic illness, and head trauma were examined as causes.1-5 Diseases with established diagnostic criteria were used to compare the patients' symptoms to try to find a disease that fits Havana Syndrome.3 Recent information from the Office of the Director of National Intelligence suggested the most likely cause to be mass psychogenic illness. With the cause of Havana Syndrome still unknown, a review of reported cases and reports helps otolaryngologists understand Havana Syndrome so they diagnose it only when appropriate and do not miss other conditions that may present with similar symptoms and that might respond well to targeted treatment.

Optimization of CT pulmonary angiography for pulmonary embolism using task-based image quality assessment and diagnostic reference levels: A multicentric study.

PURPOSE: To establish size-specific diagnostic reference levels (DRLs) for pulmonary embolism (PE) based on patient CT examinations performed on 74 CT devices. To assess task-based image quality (IQ) for each device and to investigate the variability of dose and IQ across different CTs. To propose a dose/IQ optimization. METHODS: 1051 CT pulmonary angiography dose data were collected. DRLs were calculated as the 75th percentile of CT dose index (CTDI) for two patient categories based on the thoracic perimeters. IQ was assessed with two thoracic phantom sizes using local acquisition parameters and three other dose levels. The area under the ROC curve (AUC) of a 2 mm low perfused vessel was assessed with a non-prewhitening with eye-filter model observer. The optimal IQ-dose point was mathematically assessed from the relationship between IQ and dose. RESULTS: The DRLs of CTDIvol were 6.4 mGy and 10 mGy for the two patient categories. 75th percentiles of phantom CTDIvol were 6.3 mGy and 10 mGy for the two phantom sizes with inter-quartile AUC values of 0.047 and 0.066, respectively. After the optimization, 75th percentiles of phantom CTDIvol decreased to 5.9 mGy and 7.55 mGy and the interquartile AUC values were reduced to 0.025 and 0.057 for the two phantom sizes. CONCLUSION: DRLs for PE were proposed as a function of patient thoracic perimeters. This study highlights the variability in terms of dose and IQ. An optimization process can be started individually and lead to a harmonization of practice throughout multiple CT sites.

Frequency of misdiagnosis in hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic Cardiomyopathy (HCM) is characterized by unexplained left ventricle hypertrophy (LVH) ≥15 mm. The condition is often hereditary and family screening is recommended to reduce the risk of adverse disease complications and premature death among relatives. Correct diagnosis of index patients is important to ensure that only relatives at risk of disease development are invited for family screening. PURPOSE: To investigate if patients with ICD-10 codes for HCM (DI421) or hypertrophic obstructive cardiomyopathy (DI422) fulfilled recognised diagnostic criteria. METHODS: All patients with ICD-10 codes for HCM or HOCM at a Department of Cardiology were identified and had their diagnosis validated by a cardiac investigation or a review of their medical records and previous investigations. RESULTS: Two hundred and forty patients had ICD-10 codes for HCM/HOCM, of whom 202 (84%, 202/240) underwent re-examination, while 38 (16%, 38/240) had their hospital notes reviewed. Seventy-six patients (32%, n = 76/240) did not fulfil diagnostic criteria, of whom 39, (51%, n = 39/76) had normal (10 mm) or modest LV wall thickness (11-14 mm). The remaining 37 patients (49%, n = 37/76) had LVH ≥15 mm, which was well-explained by uncontrolled hypertension, (32%, n = 24/76), aortic valve stenosis (19%, n = 7/76) or wild-type amyloidosis (16%, 6/76). CONCLUSION: One-third of patients with ICD-10 codes for HCM or HOCM did not fulfil recognised diagnostic criteria. Incorrect diagnosis of HCM may cause unnecessary family investigations which may be associated with anxiety, and a waste of health care resources. This highlights the need for specialised cardiomyopathy services to ensure correct diagnosis and management of HCM.

The Diagnostic Accuracy Between Radiomics Model and Non-radiomics Model for Preoperative of Microvascular Invasion of Solitary Hepatocellular Carcinoma: A Systematic Review and Meta-analysis.

RATIONALE AND OBJECTIVES: Microvascular invasion (MVI) is a key prognostic factor for hepatocellular carcinoma (HCC). The predictive models for solitary HCC could potentially integrate more comprehensive tumor information. Owing to the diverse findings across studies, we aimed to compare radiomic and non-radiomic methods for preoperative MVI detection in solitary HCC. MATERIALS AND METHODS: Articles were reviewed from databases including PubMed, Embase, Web of Science, and the Cochrane Library until April 7, 2023. The pooled sensitivity, specificity, positive likelihood ratio (PLR), and negative likelihood ratio (NLR) were calculated using a random-effects model within a 95% confidence interval (CI). Diagnostic accuracy was assessed using summary receiver-operating characteristic curves and the area under the curve (AUC). Meta-regression and Z-tests identified heterogeneity and compared the predictive accuracy. Subgroup analyses were performed to compare the AUC of two methods according to study type, study design, tumor size, modeling methods, and imaging modality. RESULTS: The analysis incorporated 26 studies involving 3539 patients with solitary HCC. The radiomics models showed a pooled sensitivity and specificity of 0.79 (95%CI: 0.72-0.85) and 0.78 (95%CI: 0.73-0.82), with an AUC at 0.85 (95%CI: 0.82-0.88). Conversely, the non-radiomics models had sensitivity and specificity of 0.74 (95%CI: 0.65-0.81) and 0.88 (95%CI: 0.82-0.92) and an AUC of 0.88 (95%CI: 0.85-0.91). Subgroups with preoperative MRI, larger tumors, and functional imaging had higher accuracy than those using preoperative CT, smaller tumors, and conventional imaging. CONCLUSION: Non-radiomic methods outperformed radiomic methods, but high heterogeneity calls across studies for cautious interpretation.

Diagnosis model of early Pneumocystis jirovecii pneumonia based on convolutional neural network: a comparison with traditional PCR diagnostic method.

BACKGROUND: Pneumocystis jirovecii pneumonia (PJP) is an interstitial pneumonia caused by pneumocystis jirovecii (PJ). The diagnosis of PJP primarily relies on the detection of the pathogen from lower respiratory tract specimens. However, it faces challenges such as difficulty in obtaining specimens and low detection rates. In the clinical diagnosis process, it is necessary to combine clinical symptoms, serological test results, chest Computed tomography (CT) images, molecular biology techniques, and metagenomics next-generation sequencing (mNGS) for comprehensive analysis. PURPOSE: This study aims to overcome the limitations of traditional PJP diagnosis methods and develop a non-invasive, efficient, and accurate diagnostic approach for PJP. By using this method, patients can receive early diagnosis and treatment, effectively improving their prognosis. METHODS: We constructed an intelligent diagnostic model for PJP based on the different Convolutional Neural Networks. Firstly, we used the Convolutional Neural Network to extract CT image features from patients. Then, we fused the CT image features with clinical information features using a feature fusion function. Finally, the fused features were input into the classification network to obtain the patient's diagnosis result. RESULTS: In this study, for the diagnosis of PJP, the accuracy of the traditional PCR diagnostic method is 77.58%, while the mean accuracy of the optimal diagnostic model based on convolutional neural networks is 88.90%. CONCLUSION: The accuracy of the diagnostic method proposed in this paper is 11.32% higher than that of the traditional PCR diagnostic method. The method proposed in this paper is an efficient, accurate, and non-invasive early diagnosis approach for PJP.

Congenital Intracranial Vascular Malformations in Children : Radiological Overview.

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

Plasma microRNA expression in adolescents and young adults with endometriosis: the importance of hormone use.

Introduction: Prior studies have investigated the diagnostic potential of microRNA (miRNA) expression profiles for endometriosis. However, the vast majority of previous studies have only included adult women. Therefore, we sought to investigate differential expression of miRNAs among adolescents and young adults with endometriosis. Methods: The Women's Health Study: from Adolescence to Adulthood (A2A) is an ongoing WERF EPHect compliant longitudinal cohort. Our analysis included 64 patients with surgically-confirmed endometriosis (96% rASRM stage I/II) and 118 females never diagnosed with endometriosis frequency matched on age (median = 21 years) and hormone use at blood draw. MicroRNA measurement was separated into discovery (10 cases and 10 controls) and internal replication (54 cases and 108 controls) phases. The levels of 754 plasma miRNAs were assayed in the discovery phase using PCR with rigorous internal control measures, with the relative expression of miRNA among cases vs. controls calculated using the 2-ΔΔCt method. miRNAs that were significant in univariate analyses stratified by hormone use were included in the internal replication phase. The internal replication phase was split 2:1 into a training and testing set and utilized FirePlex miRNA assay to assess 63 miRNAs in neural network analyses. The testing set of the validation phase was utilized to calculate the area under the curve (AUC) of the best fit models from the training set including hormone use as a covariate. Results: In the discovery phase, 49 miRNAs were differentially expressed between endometriosis cases and controls. The associations of the 49 miRNAs differed by hormone use at the time of blood draw. Neural network analysis in the testing set of the internal replication phase determined a final model comprising 5 miRNAs (miR-542-3p, let-7b-3p, miR-548i, miR-769-5p, miR-30c-1-3p), yielding AUC = 0.77 (95% CI: 0.67-0.87, p < 0.001). Sensitivity in the testing dataset improved (83.3% vs. 72.2%) while the specificity decreased (58.3% vs. 72.2%) compared to the training set. Conclusion: The results suggest that miR-542-3p, let-7b-3p, miR-548i, miR-769-5p, miR-30c-1-3p may be dysregulated among adolescent and young adults with endometriosis. Hormone use was a significant modifier of miRNA dysregulation and should be considered rigorously in miRNA diagnostic studies.

Low-Grade Appendiceal Mucinous Neoplasm Causing Equivocal Appendicitis: A Case Report.

Appendicitis is one of the most common diagnoses that general surgeons encounter in practice. An exceedingly rare cause of this disease is neoplasm. We report the case of a 24-year-old female who presented with non-specific right lower quadrant abdominal pain and equivocal findings of appendicitis and pelvic congestion syndrome on CT imaging. After an extensive work-up, the patient underwent a diagnostic laparoscopy with an appendectomy. The appendix appeared grossly normal; however, on a pathologic review of the specimen, a low-grade appendiceal mucinous neoplasm (LAMN) was found. This case is unique in that it demonstrates exclusive management of LAMN laparoscopically. It reinforces the need to approach non-specific abdominal pain from a multidisciplinary perspective and to utilize laparoscopy as a diagnostic/therapeutic modality when other, less invasive, modalities fail to diagnose a patient's pain.

Left Atrial Appendage Aneurysm: A Case Report and Literature Review.

The left atrial appendage aneurysm is an uncommon condition that has garnered attention from the medical community due to its low incidence and varied clinical manifestations. The difficulty in identification is reflected in its incidental detection in imaging studies such as echocardiograms and tomographies, while symptoms range from mild to severe, including heart failure and thromboembolic events. The complex etiology includes congenital and acquired factors, and its management focuses on preventing complications through surgical resection, accompanied by medical strategies such as controlling heart rhythm and anticoagulation. The case of a 67-year-old woman with significant medical history illustrates these challenges. Despite an inconclusive initial diagnosis, a tomography revealed an aneurysm with an intracavitary thrombus, leading to successful surgical resection. However, subsequent infectious complications resulted in her death. The average age of diagnosis is around 30 years, and while it is more common in women, there are no significant gender differences. Surgical management remains the preferred option, especially in severe cases, although in some patients, a watchful waiting approach is chosen. In conclusion, the left atrial appendage aneurysm is a complex entity that requires a multidisciplinary approach to improve clinical outcomes. Early diagnosis and appropriate treatment are crucial to prevent serious complications and improve the quality of life of affected patients.

Unveiling the Role of Pregnancy-Associated Plasma Protein A (PAPP-A) in Pregnancy-Associated Breast Cancer: A Comprehensive Review.

Pregnancy-associated breast cancer (PABC) presents unique challenges due to its occurrence during or shortly after pregnancy. Pregnancy-associated plasma protein A (PAPP-A) has emerged as a potential biomarker and regulator in PABC. This comprehensive review examines the role of PAPP-A in PABC, highlighting its involvement in tissue remodeling and cancer progression. Molecular mechanisms linking PAPP-A to breast cancer, including signaling pathways and interactions with other molecules, are explored. The review also discusses the diagnostic and therapeutic implications of PAPP-A dysregulation in PABC, emphasizing the need for further research to elucidate underlying mechanisms and develop targeted therapies. Collaborative efforts among researchers, clinicians, and industry stakeholders are essential for translating findings into clinically relevant interventions to improve outcomes for PABC patients.

Cystic meningiomas: A complex diagnostic challenge and clinicopathological insights from a unique case presentation.

Meningiomas present diverse clinical and radiological characteristics, with cystic formations constituting a lesser subset but posing significant diagnostic hurdles. We explore the complexities of cystic meningiomas through a distinctive case, highlighting the challenges in diagnosis and management due to their variable presentations. A 54-year-old female from Bengaluru, Karnataka, initially presented with transient memory disturbances. Brain MRI revealed a sizable left frontal cystic lesion exerting a mass effect and midline shift. However, rapid neurological decline led to an urgent surgical intervention via decompressive craniectomy unveiling unique intraoperative findings and with subsequent histopathological documentation of a Grade WHO 1 cystic meningioma. Cystic meningiomas present intricate diagnostic challenges resembling other intracranial lesions. Various classification systems attempt to categorize these tumors based on their imaging and histopathological characteristics. Despite this, atypical clinical manifestations often lead to misdiagnoses, necessitating a comprehensive approach to differential diagnosis. Further research is crucial to unravel the mechanisms underlying these tumors' cystic changes for improved diagnostic accuracy and tailored therapeutic interventions.

Revealing Prdx4 as a potential diagnostic and therapeutic target for acute pancreatitis based on machine learning analysis.

Acute pancreatitis (AP) is a common systemic inflammatory disease resulting from the activation of trypsinogen by various incentives in ICU. The annual incidence rate is approximately 30 out of 100,000. Some patients may progress to severe acute pancreatitis, with a mortality rate of up to 40%. Therefore, the goal of this article is to explore the key genes for effective diagnosis and treatment of AP. The analysis data for this study were merged from two GEO datasets. 1357 DEGs were used for functional enrichment and cMAP analysis, aiming to reveal the pathogenic genes and potential mechanisms of AP, as well as potential drugs for treating AP. Importantly, the study used LASSO and SVM-RFE machine learning to screen the most likely AP occurrence biomarker for Prdx4 among numerous candidate genes. A receiver operating characteristic of Prdx4 was used to estimate the incidence of AP. The ssGSEA algorithm was employed to investigate immune cell infiltration in AP. The biomarker Prdx4 gene exhibited significant associations with a majority of immune cells and was identified as being expressed in NKT cells, macrophages, granulocytes, and B cells based on single-cell transcriptome data. Finally, we found an increase in Prdx4 expression in the pancreatic tissue of AP mice through immunohistochemistry. After treatment with recombinant Prdx4, the pathological damage to the pancreatic tissue of AP mice was relieved. In conclusion, our study identified Prdx4 as a potential AP hub gene, providing a new target for treatment.

Acute patients discharged without an established diagnosis: risk of mortality and readmission of nonspecific diagnoses compared to disease-specific diagnoses.

BACKGROUND: Nonspecific discharge diagnoses after acute hospital courses represent patients discharged without an established cause of their complaints. These patients should have a low risk of adverse outcomes as serious conditions should have been ruled out. We aimed to investigate the mortality and readmissions following nonspecific discharge diagnoses compared to disease-specific diagnoses and assessed different nonspecific subgroups. METHODS: Register-based cohort study including hospital courses beginning in emergency departments across 3 regions of Denmark during March 2019-February 2020. We identified nonspecific diagnoses from the R- and Z03-chapter in the ICD-10 classification and excluded injuries, among others-remaining diagnoses were considered disease-specific. Outcomes were 30-day mortality and readmission, the groups were compared by Cox regression hazard ratios (HR), unadjusted and adjusted for socioeconomics, comorbidity, administrative information and laboratory results. We stratified into short (3-<12 h) or lengthier (12-168 h) hospital courses. RESULTS: We included 192,185 hospital courses where nonspecific discharge diagnoses accounted for 50.7% of short and 25.9% of lengthier discharges. The cumulative risk of mortality for nonspecific vs. disease-specific discharge diagnoses was 0.6% (0.6-0.7%) vs. 0.8% (0.7-0.9%) after short and 1.6% (1.5-1.7%) vs. 2.6% (2.5-2.7%) after lengthier courses with adjusted HRs of 0.97 (0.83-1.13) and 0.94 (0.85-1.05), respectively. The cumulative risk of readmission for nonspecific vs. disease-specific discharge diagnoses was 7.3% (7.1-7.5%) vs. 8.4% (8.2-8.6%) after short and 11.1% (10.8-11.5%) vs. 13.7% (13.4-13.9%) after lengthier courses with adjusted HRs of 0.94 (0.90-0.98) and 0.95 (0.91-0.99), respectively. We identified 50 clinical subgroups of nonspecific diagnoses, of which Abdominal pain (n = 12,462; 17.1%) and Chest pain (n = 9,599; 13.1%) were the most frequent. The subgroups described differences in characteristics with mean age 41.9 to 80.8 years and mean length of stay 7.1 to 59.5 h, and outcomes with < 0.2-8.1% risk of 30-day mortality and 3.5-22.6% risk of 30-day readmission. CONCLUSIONS: In unadjusted analyses, nonspecific diagnoses had a lower risk of mortality and readmission than disease-specific diagnoses but had a similar risk after adjustments. We identified 509 clinical subgroups of nonspecific diagnoses with vastly different characteristics and prognosis.

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease.

BACKGROUND: The 'diagnostic odyssey' is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of rare diseases in clinical settings is challenging, with patients typically experiencing a multitude of unnecessary tests and procedures. To improve diagnosis of rare disease, clinicians require evidence-based guidance on when their patient may be presenting with a rare disease. This study aims to identify common experiences amongst patients with rare diseases, to inform a series of 'red flags' that can aid diagnosis of rare diseases in non-specialist settings. A questionnaire was developed by Medics for Rare Diseases, informed by the experiences of clinicians, rare disease patients and patient advocates, and was shared with UK-based rare disease patient groups. Study participants were engaged via social media platforms, blogs and email newsletters of three umbrella rare disease organisations. The questionnaire, comprising 22 questions, was designed to identify typical experiences relating to physical and psychosocial manifestations and presentation of disease, patient interactions with healthcare providers, and family history. RESULTS: Questionnaire responses were received from 79 different rare disease patient groups and the common experiences identified were used to inform seven red flags of rare disease: multi-system involvement (3 or more); genetic inheritance pattern; continued presentation throughout childhood and adulthood; difficulties at school, especially relating to absences, difficulty participating in physical education and experiences of bullying or social isolation; multiple specialist referrals; extended period with unexplained symptoms; and misdiagnosis. In light of the red flags identified, recommendations for primary care and education settings have been proposed, focusing on the need for holistic assessment and awareness of both physical and psychosocial factors. CONCLUSIONS: This study identified key commonalities experienced by patients with rare disease across physical and psychosocial domains, in addition to understanding patients' history and experiences with healthcare providers. These findings could be used to develop a clinical decision­making tool to support non-specialist practitioners to consider when their patient may have an undiagnosed rare condition, which may minimise the challenges of the 'diagnostic odyssey' and improve the patient experience.

Thoracic ultrasound may improve paramedic diagnostic and management accuracy in undifferentiated respiratory distress.

Objectives: Patients with chronic obstructive pulmonary disease (COPD) and congestive heart failure (CHF) exacerbations present with similar history and physical examination findings. This complicates both the diagnostic process and the creation of appropriate treatment plans for patients presenting in respiratory distress, particularly in the prehospital setting. Thoracic point-of-care-ultrasound (POCUS) may increase diagnostic accuracy; however, its potential to improve patient management by emergency medical services clinicians is unknown. We aimed to determine whether a brief thoracic POCUS educational intervention would improve prehospital diagnostic accuracy and treatment plans for patients with COPD and CHF exacerbations. Methods: In this prospective pre-/post-study, paramedics completed a thoracic POCUS training program. The pre-test presented history and physical examination data for 10 patients and asked paramedics to diagnose each patient with COPD or CHF exacerbation and to select the appropriate treatment(s). The post-test asked paramedics to interpret ultrasound images in addition to selecting diagnosis and treatment(s). Pre-post differences in average cumulative diagnostic and management accuracy were analyzed using paired two-tailed t-tests. Results: Thirty-three paramedics participated in the study. At baseline, paramedics selected the accurate patient diagnosis and treatment(s) 73% and 60% of the time, respectively. On the post-test, diagnostic accuracy improved by 17% (95% confidence interval [CI]: 11-24, p < 0.001) and appropriate treatment selection improved by 23% (95% CI: 16-28, p < 0.001). Paramedics correctly interpreted ultrasound images 90% of the time. Conclusion: Effective training of paramedics to recognize the clinical scenario of undifferentiated respiratory distress and their associated thoracic ultrasound images may lead to improved treatment plans.

Artificial intelligence in diagnosing upper limb musculoskeletal disorders: a systematic review and meta-analysis of diagnostic tests.

Purpose: The integration of artificial intelligence (AI) in radiology has revolutionized diagnostics, optimizing precision and decision-making. Specifically in musculoskeletal imaging, AI tools can improve accuracy for upper extremity pathologies. This study aimed to assess the diagnostic performance of AI models in detecting musculoskeletal pathologies of the upper extremity using different imaging modalities. Methods: A meta-analysis was conducted, involving searches on MEDLINE/PubMed, SCOPUS, Cochrane Library, Lilacs, and SciELO. The quality of the studies was assessed using the QUADAS-2 tool. Diagnostic accuracy measures including sensitivity, specificity, diagnostic odds ratio (DOR), positive and negative likelihood ratios (PLR, NLR), area under the curve (AUC), and summary receiver operating characteristic were pooled using a random-effects model. Heterogeneity and subgroup analyses were also included. All statistical analyses and plots were performed using the R software package. Results: Thirteen models from ten articles were analyzed. The sensitivity and specificity of the AI models to detect musculoskeletal conditions in the upper extremity were 0.926 (95% CI: 0.900; 0.945) and 0.908 (95% CI: 0.810; 0.958). The PLR, NLR, lnDOR, and the AUC estimates were found to be 19.18 (95% CI: 8.90; 29.34), 0.11 (95% CI: 0.18; 0.46), 4.62 (95% CI: 4.02; 5.22) with a (P < 0.001), and 95%, respectively. Conclusion: The AI models exhibited strong univariate and bivariate performance in detecting both positive and negative cases within the analyzed dataset of musculoskeletal pathologies in the upper extremity.