Diagnosis Research Articles

Procedural sedation and analgesia in pediatric diagnostic and interventional radiology: An expert DELPHI consensus document developed by the ITALIAN scientific society of anesthesia, analgesia, resuscitation and intensive care (SIAARTI).

Children undergoing diagnostic and interventional radiology procedures often require sedation to achieve immobility and analgesia if the procedure is painful. In the past decades, leading scientific organizations have developed evidence-based guidelines for procedural sedation and analgesia in children outside of the operating room. Their recommendations are being applied to procedural sedation in radiology. However, some questions remain open regarding specific aspects contextualized to the radiology setting, such as elective prone sedation, the urgency of the procedure, when venous access or airway protection is required, and others. To address the unresolved issues of procedural sedation and analgesia in pediatric diagnostic and interventional radiology. An expert panel of pediatricians, pediatric anesthesiologists, intensivists, and neuroradiologists selected topics representative of current controversies and formulated research questions. Statements were developed by reviewing the literature for new evidence, comparing expertise and experience, and expressing opinions. Panelists' agreement with the statements was collected anonymously using the DELPHI method. Twelve evidence-based or expert opinion incorporate are presented, considering risks, benefits, and applicability. This consensus document, developed by a multidisciplinary panel of experts involved in the field, provides statements to improve the quality of decision-making practice in procedural sedation and analgesia in pediatric radiology.

THE USE OF EMPIRICAL ANTIBIOTICS IN THE CRITICAL CARE UNIT

Antimicrobial therapy plays a crucial role in managing infections in critically ill patients, yet its indiscriminate use can lead to adverse outcomes. Here, we propose a systematic approach for guiding empirical antimicrobial therapy in intensive care unit (ICU) patients with suspected infections. Diagnostic evaluation, including imaging, laboratory tests, and physical examination, is essential to assess the necessity of antimicrobial treatment. Despite advances, no gold standard biomarker for differentiating infection from inflammation necessitates thorough diagnostic assessment. Prompt microbiological sampling is crucial for accurate diagnosis and tailored treatment. Emergency initiation of antimicrobial therapy is recommended for conditions like sepsis and septic shock, emphasizing the need for timely intervention. Pathogen profiling and consideration of multidrug resistance risk factors are essential for selecting appropriate empirical therapy. Customized evaluation based on patient characteristics and regional trends is paramount for optimal antibiotic selection. Pharmacokinetic and pharmacodynamic parameters should guide dosing to ensure adequate antibacterial levels while minimizing adverse effects. Future research should focus on AI-powered decision-making systems, optimal timelines for starting or postponing therapy, and the environmental impacts of antibiotic use to enhance patient outcomes and reduce antimicrobial resistance.

Machine learning modeling to predict causes of infectious abortions and perinatal mortalities in cattle

A plethora of infectious and non-infectious causes of bovine abortions and perinatal mortalities (APM) have been reported in literature. However, due to financial limitations or a potential zoonotic impact, many laboratories only offer a standard analytical panel, limited to a preestablished number of pathogens. To improve the cost-efficiency of laboratory diagnostics, it could be beneficial to design a targeted analytical approach for APM cases, based on maternal and environmental characteristics associated with the prevalence of specific abortifacient pathogens. The objective of this retrospective observational study was to implement a machine learning pipeline (MLP) to predict maternal and environmental factors associated with infectious APM. Our MLP based on a greedy ensemble approach incorporated a standard tuning grid of four models, applied on a dataset of 1590 APM cases with a positive diagnosis that was achieved by analyzing an extensive set of abortifacient pathogens. Production type (dairy/beef), gestation length, and season were successfully predicted by the greedy ensemble, with a modest prediction capacity which ranged between 63 and 73 %. Besides the predictive accuracy of individual variables, our MLP hierarchically identified predictor importance causes of associated environmental/maternal characteristics of APM. For instance, in APM cases that happened in beef cows, season at APM (spring/summer) was the most important predictor with a relative importance of 24 %. Furthermore, at the last trimester of gestation Trueperella pyogenes and Neospora caninum were the most important predictors of APM with a relative importance of 22 and 17 %, respectively. Interestingly, herd size came out as the most relevant predictor for APM in multiparous dams, with a relative importance of 12 %. Based on these and other mix of predicted environmental/maternal and pathogenic potential causes, it could be concluded that implementing our MLP may be beneficial to design a more cost-effective, case-specific diagnostic approach for bovine APM cases at the diagnostic laboratory level.

Management of intraspecific aggression in two bull giraffes (Giraffa camelopardalis ssp. rothschildi).

Maintaining nonbreeding individuals in zoological collections may sometimes necessitate housing bachelor groups. In turn, intact cohabiting males may express increased intraspecific agonistic behaviors, and management intervention may be indicated. Where castration is deemed inappropriate (e.g., future breeding, or anesthesia and surgery-related risk), the immune contraceptive gonadotrophin-releasing hormone (GnRH) is increasingly used as an alternative. When intraspecific aggression (sparring) in two bull giraffes housed as a bachelor pair at Knowsley Safari, UK, escalated in frequency and intensity (despite management interventions), further mediation was warranted to moderate sparring behaviors. The Ex situ Program recommendation was for one giraffe, the (slightly) older, outwardly mature (darker, strong musth) individual, to be treated with the GnRH vaccine Improvac® (Zoetis). To gauge the efficacy of vaccination, behavioral observations were conducted during each vaccination phase to identify changes in the frequency of sparring behaviors. In addition, fecal samples were collected by keepers and sent to Chester Zoo's Endocrine Diagnostic Laboratory for analysis to compare androgen levels between the pre- and postvaccination phases. Testicular atrophy was investigated using both visual inspection and photographic images. The GnRH vaccine Improvac® initially appeared to be associated with reduced aggressive behaviors in the two bull giraffes. Sparring behaviors decreased in frequency after each vaccination phase, although these did not significantly diminish until phase 4. Physiological markers were inconclusive as testosterone concentrations varied throughout the phases, although levels remained low after the fourth vaccination phase. Approximately 8 months following the initial vaccination with Improvac®, the unvaccinated bull exhibited heightened aggression, resulting in physical aggression and injury to the vaccinated bull. As a result, both bulls are now on an Improvac® vaccination schedule, which has enabled them to remain housed together as a bachelor pair.

Analysis of Treatment Strategies and Outcomes in Malignant Peritoneal Mesothelioma: Insights From a Multi-Center Study

BackgroundThis study aimed to evaluate the demographic,” clinicopathologic, and prognostic characteristics of malignant peritoneal mesothelioma (MPeM), as well as the treatment options for the rare and heterogeneous MPeM population.MethodsA retrospective multi-center observational cohort study was conducted to evaluate patients with MPeM. Due to the heterogeneity of the study population, the study divided them into two main groups in terms of treatments, follow-up periods, and prognostic features. The first group comprised the patients who underwent cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC), and the second group included the patients with metastatic disease for whom curative intent surgery was not possible. The patients’ diagnostic procedures and treatments were identified from medical records. Patients older than 18 years old were included in the study regardless of asbestos exposure. Well-differentiated papillary and multicystic mesothelioma histologic types were not included in the study.ResultsThe study evaluated 118 patients from five centers. Survival times, prognosis, and treatment responses were analyzed in both groups. The study showed that CRS-HIPEC was associated with longer overall survival (OS) and progression-free survival (PFS). Perioperative therapy was evaluated in subgroup analyses of this population and shown to provide survival benefits. The patients treated with chemotherapy (metastatic and medically inoperable patients and those for whom complete cytoreduction was not achievable) had a poorer prognosis than the surgery group. The study showed that life expectancy decreased significantly for the patients not suitable to undergo surgery for any reason.ConclusionsAccording to data from experienced centers, CRS-HIPEC is a treatment option recognized as effective, cost-effective, and safe, with better OS and PFS , as well as low morbidity and mortality rates similar to those in the literature. In addition, the platinum-pemetrexed combination continues to be an effective and acceptable treatment option for metastatic patients, those who are medically inoperable, and those for whom complete or near-complete cytoreduction is not achievable.

DETECTION OF PSEUDOMONAS AERUGINOSA FROM VARIOUS CLINICAL SPECIMEN AND ANTIMICROBIAL RESISTANCE PATTERN OF HUMAN

In this study, 60 samples were collected from different sources in Al-Zahra Teaching Hospital and Karma Hospital . The random sampling process was conducted to identify the foci of pollution in P.aeruginosa, which was one of the objectives of this study and obtained diagnostic procedures. 45 samples were collected from Al-Zahra Teaching Hospital and collected from 15 samples Karma Hospital . Results of agricultural tests and tests biochemistry 10 isolates of P.aeruginosa bacteria . The pharmacological sensitivity of 10 samples was tested against 10 types of antibiotics in the method of spreading the disk to Kirby_bauer. All isolates were almost resistant . All antibiotics were resistant to severe resistance

Update of the S3-guideline on diagnostics, prophylaxis and treatment of osteoporosis

With the aid of anew fracture risk model, the great treatment gap for osteoporosis should be closed. All patients older than 70years should undergo a diagnostic procedure for osteoporosis. An additional risk threshold (≥ 10% per 3years for femoral and vertebral fractures) should enable patients with ahigh risk of fracture to be treated with osteoanabolic agents. The use of osteoanabolic agents makes it necessary to administer antiresorptive drugs afterwards. Due to the low event rate of osteonecrosis of the jaw, the initiation of aspecific osteoporosis treatment should not be delayed by prophylactic dental treatment. The adherence to the drug treatment should be improved by an individualized approach on the basis of acooperation between patients, caregivers, and physicians. Aregular assessment of falls, including the timed up and go test should be carried out in patients older than 70years.

Variant classification changes over time in the clinical molecular diagnostic laboratory setting

BackgroundVariant classification in the setting of germline genetic testing is necessary for patients and their families to receive proper care. Variants are classified as pathogenic (P), likely pathogenic (LP), uncertain...

Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is arare genetic disorder with avariable clinical phenotype that is accompanied by reduced motility of the cilia in the respiratory tract and numerous other organs. This leads to various characteristic symptoms and disease manifestations, primarily affecting the lungs (chronic persistent productive cough, bronchiectasis), the nose and paranasal sinuses (chronic persistent rhinitis or rhinosinusitis) as well as the middle ear (chronic otitis media, middle ear effusion). Moreover, PCD is associated with impaired fertility or lateralization defects (situs anomalies, congenital heart defects). The diagnostics of PCD are complex and require acombination of several sophisticated instrument-based diagnostic procedures. Through thorough history taking and evaluation, suspected cases can be comparatively well identified based on typical clinical features and referred to further diagnostics. In recent years, molecular genetic analysis through panel diagnostics or whole exome and whole genome sequencing, has gained in importance as this enables affected individuals to participate in disease-specific and genotype-specific clinical trials. Although the current treatment is purely symptomatic, the earliest possible diagnosis is crucial for connecting patients to specialized PCD centers, which can have asignificant impact on the clinical course of the affected individuals.

Non-Targeted RNA Sequencing: Towards the Development of Universal Clinical Diagnosis Methods for Human and Veterinary Infectious Diseases.

Metagenomics offers the potential to replace and simplify classical methods used in the clinical diagnosis of human and veterinary infectious diseases. Metagenomics boasts a high pathogen discovery rate and high specificity, advantages absent in most classical approaches. However, its widespread adoption in clinical settings is still pending, with a slow transition from research to routine use. While longer turnaround times and higher costs were once concerns, these issues are currently being addressed by automation, better chemistries, improved sequencing platforms, better databases, and automated bioinformatics analysis. However, many technical options and steps, each producing highly variable outcomes, have reduced the technology's operational value, discouraging its implementation in diagnostic labs. We present a case for utilizing non-targeted RNA sequencing (NT-RNA-seq) as an ideal metagenomics method for the detection of infectious disease-causing agents in humans and animals. Additionally, to create operational value, we propose to identify best practices for the "core" of steps that are invariably shared among many human and veterinary protocols. Reference materials, sequencing procedures, and bioinformatics standards should accelerate the validation processes necessary for the widespread adoption of this technology. Best practices could be determined through "implementation research" by a consortium of interested institutions working on common samples.

Accuracy of screening for hemolysis in plasma samples using a commercial urine dipstick

Objectives: Identification and quantification of hemolysis in serum or plasma samples is an important requirement in laboratory diagnostics; however, this is not always possible automatically, and visual sample inspection is not sufficiently accurate. We have planned this study to determine whether a commercially available urine dipstick with a hemoglobin-reactive pad could be used for this purpose. Materials and Methods: Sixty-five routine plasma samples, whose hemolysis index (HI) was previously determined on Roche Cobas 8000, were assayed with a commercial urine dipstick to obtain semi-quantitative data on plasma hemoglobin. Plasma was diluted 1:1000 in water to enter the dipstick’s range of hemoglobin measurement, and 10 µL of this dilution was applied to the hemoglobin pad. Results were visually interpreted within 60 s by comparing the pad color with that on the dipstick box label. Statistical Analysis: Semi-quantitative test results obtained with the urine dipstick were directly correlated with those of the same samples assayed on Roche Cobas 8000 using non-parametric Spearman’s correlation and agreement. Results: The sample size consisted of 40 non-hemolyzed (HI ≤0.3 g/L) and 25 hemolyzed (HI >0.3 g/L) plasma samples. Spearman’s correlation between Cobas HI and dipstick hemoglobin concentration was r = 0.96 (95% confidence interval, 0.93–0.97; P < 0.001). The concordance of hemolysis detection was 95.4%, with 1.00 sensitivity, 0.93 specificity, 1.00 negative predictive value, and 0.89 positive predictive value compared to the reference HI measurement on Cobas. The cumulative agreement between Cobas HI and the various plasma hemoglobin thresholds obtained with the dipstick was 75.4%. Conclusions: We have demonstrated here that plasma hemoglobin assessment with commercially available urine dipsticks may generate semi-quantitative test results accurate enough to influence decision-making regarding sample quality and its suitability for testing.

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study aimed to understand current reanalysis practices among Australian clinical and laboratory genetics services and explore attitudes towards large-scale automated re-analysis. We collected audit data regarding testing and reanalysis volumes, policies and procedures from all Australian diagnostic laboratories providing rare disease genomic testing. A genetic health professionals' survey explored current practices, barriers to reanalysis, preferences and attitudes towards automation. Between 2018 and 2021, Australian diagnostic laboratories performed over 25,000 new genomic tests and 950 reanalyses, predominantly in response to clinician requests. Laboratory and clinical genetic health professionals (N = 134) identified workforce capacity as the principal barrier to reanalysis. No specific laboratory or clinical guidelines for genomic data reanalysis or policies were identified nationally. Perceptions of acceptability and feasibility of automating reanalysis were positive, with professionals emphasizing clinical and workflow benefits. In conclusion, there is a large and rapidly growing unmet need for reanalysis of existing genomic data. Beyond developing scalable automated reanalysis pipelines, leadership and policy are needed to successfully transform service delivery models and maximize clinical benefit.

Non-invasive detection of cardiac arrhythmias using photoplethysmography signals

Abstract Cardiac arrhythmias (CAs) are associated with critical heart-related complications such as stroke or heart failure. Because of the intermittent and asymptomatic presentation of some CAs in their early stages, the screening remains limited using traditional methods based on ECG. Recent advances in photoplethysmography (PPG) have revealed substantial potential for wearable devices to detect CAs within large populations. Although PPG has demonstrated efficiency in discriminating atrial fibrillation (AF) from normal sinus rhythm, it remains unclear whether AF detection methods remains effective in the presence of CAs other than AF. In this study, we applied a recurrent neural network on a dataset containing eight different types of CAs (Table 1). The classifier processes sequences of interbeat intervals (IBIs) as input and discriminates between normal and abnormal rhythms. The algorithm was evaluated on 64 patients (45 males and 19 females , with a mean age of 55.9 ± 16.0) undergoing a diagnostic or therapeutic electrophysiological procedure. This dataset includes simultaneous recordings of PPG signals from a wrist-bracelet and 12-lead ECG, with the latter used as the gold-standard for annotating cardiac rhythms. The classifier achieved 84% accuracy, 77% sensitivity and 88% specificity in detecting abnormal rhythms. Table 1 shows that AF (99.6%), atrial tachycardia (100%) and AVRT (96.4%) were well classified as abnormal rhythm, whereas the reliability of the detection decreased for atrial flutter (65.4%), atrial or ventricular bigeminy (72.4%) and ventricular tachycardia (80.2%). Undetected abnormal rhythms were often characterized by a rather regular rhythm (illustrated by VT in Figure 1) and CAs for which PPG heartbeat detection was initially not optimal (Bigeminy in Figure 1). In conclusion, this study shows the capability of PPG-based technology to detect various CAs extending beyond AF. It highlights the merits and limitations of IBI-based detection of abnormal rhythms, highlighting the need for a better comprehension of the peripheral hemodynamic signature of CAs.

Management of edoxaban therapy in patients undergoing emergency/urgent procedures: a subanalysis of the global, prospective, observational, multinational EMIT-AF/VTE programme

Abstract Background Physicians are often unable to follow recommendations for preprocedural oral anticoagulant interruption before emergency/urgent (unplanned) procedures, which may lead to a higher incidence of adverse outcomes in these patients compared with those who undergo planned procedures. The Global EMIT-AF/VTE programme found low bleeding and thromboembolic event rates for patients receiving edoxaban who underwent diagnostic or therapeutic procedures. However, edoxaban management and clinical outcomes may differ among the subgroup of patients with emergency/urgent procedures. Purpose To describe periprocedural edoxaban management and clinical outcomes for patients in the EMIT-AF/VTE programme who underwent emergency/urgent procedures. Methods In this subanalysis, only physician-reported unplanned (emergency/urgent) procedures were included, of which dental and dermatological procedures were excluded. Only a patient’s first emergency procedure was included, with the exception of 3 patients having 2 procedures on the same day (in these cases the 2 procedures were combined). Procedure bleeding risk was classified according to EHRA criteria, and baseline characteristics and edoxaban interruption data were collected. Clinical event and procedure dates were compared to determine whether they were related. Results Among 156 patients undergoing emergency/urgent procedures, the mean ± standard deviation age at baseline was 74.5 ± 8.7 years, and the CHA2DS2-VASc score was 3.8 ± 1.6. Medical histories of hypertension and dyslipidaemia were reported in 84.0% and 40.4% of patients, respectively; approximately one-quarter of patients had diabetes mellitus (26.9%) or creatinine clearance ≤50 mL/min (24.4%). The most common procedure types were vascular access and transcatheter diagnostics/interventions (34.6%) and gastroenterological procedures (27.6%). Procedures were more often EHRA-classified as minor (35.9%) or low (35.3%) vs high risk (20.5%). Preprocedure edoxaban interruption rates ranged from 39.3%–50.9% across risk groups, with more than half of the procedures being performed with edoxaban interruption (53%–66%; Figure). By 20 days postprocedure, edoxaban therapy was resumed in approximately 86% and 88% of patients with minor- or low-risk procedures vs 70% with high-risk procedures. Overall, 33 clinical events were recorded, of which 18 (54.5%) preceded a procedure (Table). Five bleeding events and one thrombotic event occurred after and were caused by the procedure. Conclusions Edoxaban resumption was protracted after high- vs minor- or low-risk procedures. Bleeding and thrombotic events resulting from a procedure occurred in <4% of patients, indicating that postprocedure edoxaban therapy can be effectively tailored to optimise clinical outcomes.FigureTable

Multimodal imaging and electrophysiological study in the differential diagnosis of rest tremor

IntroductionDistinguishing tremor-dominant Parkinson's disease (tPD) from essential tremor with rest tremor (rET) can be challenging and often requires dopamine imaging. This study aimed to differentiate between these two diseases through a machine learning (ML) approach based on rest tremor (RT) electrophysiological features and structural MRI data.MethodsWe enrolled 72 patients including 40 tPD patients and 32 rET patients, and 45 control subjects (HC). RT electrophysiological features (frequency, amplitude, and phase) were calculated using surface electromyography (sEMG). Several MRI morphometric variables (cortical thickness, surface area, cortical/subcortical volumes, roughness, and mean curvature) were extracted using Freesurfer. ML models based on a tree-based classification algorithm termed XGBoost using MRI and/or electrophysiological data were tested in distinguishing tPD from rET patients.ResultsBoth structural MRI and sEMG data showed acceptable performance in distinguishing the two patient groups. Models based on electrophysiological data performed slightly better than those based on MRI data only (mean AUC: 0.92 and 0.87, respectively; p = 0.0071). The top-performing model used a combination of sEMG features (amplitude and phase) and MRI data (cortical volumes, surface area, and mean curvature), reaching AUC: 0.97 ± 0.03 and outperforming models using separately either MRI (p = 0.0001) or EMG data (p = 0.0231). In the best model, the most important feature was the RT phase.ConclusionMachine learning models combining electrophysiological and MRI data showed great potential in distinguishing between tPD and rET patients and may serve as biomarkers to support clinicians in the differential diagnosis of rest tremor syndromes in the absence of expensive and invasive diagnostic procedures such as dopamine imaging.

Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.

Maternal cell contamination (MCC) poses a risk for misdiagnosis in prenatal genetic testing, and is examined in accredited diagnostic laboratories However, the awareness of possible MCC in perinatal/postnatal genetic testing, mainly of umbilical cord blood (CB), is lower. We investigated the rate of MCC in DNA from both umbilical CB samples and umbilical cord samples that were sent to our diagnostic laboratory for diagnostic testing between 1995 and 2021 (n=236). MCC was detected in 4% of umbilical CB samples, and in one umbilical cord sample. Particularly tests enriching for a specific variant are very sensitive for low amounts of MCC, as we emphasize here with a false positive diagnosis of myotonic dystrophy type 1 in a newborn. Overall, with appropriate collection and use, umbilical CB and umbilical cord samples are suitable for genetic testing based on the low rates of MCC and misdiagnosis. These findings do however underline the importance of routine MCC testing in umbilical CB samples and umbilical cord samples for both requesting clinicians and diagnostic genetic laboratories.

#357 Sex differences in the aldosterone-renin system must be taken into account during screening for primary aldosteronism

Abstract Background and Aims Primary aldosteronism (PA) is one of the most frequent causes of secondary hypertension. Patients with PA are at higher risk for cardiovascular and renal complications than those with essential hypertension. Screening for PA is rarely considered in the assessment of a hypertensive patient, in part because of difficulties in the diagnostic process. Nevertheless, identification of PA is crucial to guide patients towards optimal management, either by mineralocorticoid receptor blockade or by unilateral adrenalectomy, with the latter offering potential cure for patients with aldosterone-producing adenomas (APAs). Numerous studies show inadequate diagnostic accuracy of the aldosterone:renin ratio (ARR) for screening for PA, particularly in females, who have higher ARR variability and lower renin compared to males. Women have a higher risk of false-positive screening results leading to unnecessary confirmatory tests. Use of oral contraception (OC) or hormone replacement therapy (HRT) may also confound the ARR. The aim of this study was to develop improved screening tools for PA, including adjustments for sex-specific differences. Method PROSALDO is a multicenter prospective cohort study designed to test new diagnostic procedures for patients with suspected PA. Medication that interfere with the renin-angiotensin-aldosterone system are withdrawn before laboratory measurements. For screening, the routine ARR is calculated along with additional probability scores based on a peripheral venous steroid hormone profile (PVSP). The latter allows for identification of potentially false-negative ARR results. After a positive screening result of the ARR and/or a high probability score based on the PVSP, PA is confirmed or excluded with a saline infusion test (SIT). PA confirmation is followed by adrenal venous sampling (AVS) to identify patients with unilateral PA. We compared aldosterone, renin and ARR levels between females and males with and without PA. Renin- and sex dependent formulas for aldosterone screening cut-offs were derived from the study population. Logistic regression and the corresponding receiver operating characteristic (ROC) curves were used to determine and compare diagnostic accuracies. Results PA was confirmed in 159 (24.5%) of 649 (328 (50.5%) females and 321 (49.5%) males). Lateralization was shown in 58 out of 117 patients who underwent AVS. In hypertensive patients without PA, ARR was higher in females vs. males (26.4 vs. 11.7 pmol/mU, P < 0.0001), mainly due to a lower renin (9.2 vs. 16.2 mU/L, P < 0.0001). Furthermore, ARRs in patients with vs. without PA showed more overlap in females compared to males. Areas under ROC curves (AUROCs) for the ARR were 0.857 (CI 95%: 0.797-0.902) vs. 0.912 (CI 95%: 0.876-0.938) for females and males respectively. Using liquid chromatography mass spectrometry measurements (LC-MS/MS) of aldosterone, an ARR cut-off of 21.75 pmol/L yielded a sensitivity of 93% with only 45% specificity in females, while for males, a specificity of 66% was obtained for a sensitivity of 97.7%. This meant for females having a higher risk of false-positive screening results (OR 2.36 (CI 95%: 1.65-3.41)), even after excluding patients on OC or HRT (OR 2.17 (CI 95%: 1.5-3.17)). We derived a renin- and sex-dependent formula for the calculation of aldosterone cut-offs, which improved diagnostic accuracy for both males and females (ΔAUROC = 0.05 and 0.045, P < 0.0001 and 0.02 respectively): for a diagnostic sensitivity of 94-95%, specificity was improved to 61% in females and 82% in males. Conclusion Lower renin in females without PA leads to higher ARRs and thus a higher risk of false-positive screening results. Higher overlap of the ARR between females with and without PA compared to their male counterparts weakens utility of the ARR for discrimination of patients with and without PA. Sex- and renin-specific aldosterone cut-offs for screening for PA offer improved diagnostic accuracy. Diagnostic accuracy remains however superior in males, which highlights the need for further optimization of diagnostic procedures specifically in women.

Focus on Sjögren's syndrome - Diagnosis and treatment

In the diagnosis of Sjögren's syndrome the Salivary gland sonography (SGUS) has become established and can lead to a higher specificity of the applicable classification criteria. The OMERACT score is used to objectify the SGUS findings. In laboratory diagnostics, the subspecification of anti-SSA/Ro antibodies, but possibly also new biomarkers, are becoming increasingly important regarding diagnostic safety and the expected manifestations. When it comes to prevention, it has been shown that not only psychological stress, but also cardiovascular risk and the risk of lymphoma allow high-risk patients to be identified more precisely in the future. Using cluster analyses, various phenotype groups could be identified to which clinical parameters could be assigned. In 2020, therapy recommendations were published that are based on the clinical manifestations of SjS and recommend medications that are also used in the treatment of systemic lupus erythematosus (SLE) or rheumatoid arthritis. A particularly large number of therapeutic approaches are dedicated to the B cell: Rituximab and Belimumab have been included in the EULAR recommendations for serious manifestations and Ianalumab has a promising effect. Another focus of current research is the inhibition of co-stimulation between immune cells. After recent disappointing results for Abatacept, clinical trials show promising effects on Iscalimab and Dazodalibep.

What kind of «thing» is mental illness? Listening to Kraepelin, Jaspers and Kronfeld

Since its beginnings psychiatry controversely debated about the appropriate concept of illness, about nosology and the diagnostic terms and procedures based upon it. This paper discusses the approaches introduced by Emil Kraepelin (1856–1926), Karl Jaspers (1883–1969) and Arthur Kronfeld (1886–1941). Whereas Kraepelin postulated the existence of «natural entities» with regard to mental illness, Jaspers acknowledged the heuristic value of the term «disease entity», but declared it a «regulative idea» in a Kantian sense, i.e. an appropriate and useful, albeit never fully achievable aim. Kronfeld, in a way situated «between» Kraepelin and Jaspers, defended the notion of disease entities. However, he spoke clearly against primarily anchoring these entities in neighbouring scientific fields like neurobiology or social sciences. Psychiatry should stay (or become) «autological», in the first place using the psychological perspective. In full respect for neighbouring approaches as scientific fields in their own right, he rejected their premature transfer to mental phenomena as «heterological», i.e. as unduly narrowing down the scope of psychiatry. These issues, up to debate 100 years ago, still are of utmost relevance for psychiatry in the 21st century, a field struggling with its rather fragile scientific identity.

Rare Case of Right Ventricular Perforation during Pericardiocentesis: A Case Report

Iatrogenic cardiac injuries are potential complications arising from diagnostic and therapeutic procedures in cardiology, including interventions like cardiac catheterization, coronary angioplasty, and pacemaker implantation ­­[1,2]. Pericardial tamponade can occur, with a prevalence of 0.12%, often requiring urgent intervention such as pericardiocentesis. Patients with chronic pericardial effusion and signs of tamponade may adapt to gradual fluid accumulation, but vigilance for iatrogenic injuries remains crucial. Transthoracic echocardiography aids in rapid diagnosis and guides timely interventions [3]. Therefore, the right ventricular perforation seems to be one of these complications, and it may occur during pericardiocentesis. Surgical approaches for acute tamponades vary, with median sternotomy enabling comprehensive exploration [4]. Echocardiographic monitoring can signal clinical deterioration, necessitating prompt fluid management and early intervention to optimize outcomes. Although, the therapies in right ventricular perforation are variable. In our case, we emphasize about the conservative approach.