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"diagnostic workup"
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Evolving evidence in the treatment of primary and recurrent posterior cruciate ligament injuries, part 1: anatomy, biomechanics and diagnostics
2021
The posterior cruciate ligament (PCL) represents an intra-articular structure composed of two distinct bundles. Considering the anterior and posterior meniscofemoral ligaments, a total of four ligamentous fibre bundles of the posterior knee complex act synergistically to restrain posterior and rotatory tibial loads. Injury mechanisms associated with high-energy trauma and accompanying injury patterns may complicate the diagnostic evaluation and accuracy. Therefore, a thorough and systematic diagnostic workup is necessary to assess the severity of the PCL injury and to initiate an appropriate treatment approach. Since structural damage to the PCL occurs in more than one third of trauma patients experiencing acute knee injury with hemarthrosis, background knowledge for management of PCL injuries is important. In Part 1 of the evidence-based update on management of primary and recurrent PCL injuries, the anatomical, biomechanical, and diagnostic principles are presented. This paper aims to convey the anatomical and biomechanical knowledge needed for accurate diagnosis to facilitate subsequent decision-making in the treatment of PCL injuries.
Level of evidence
V.
Journal Article
Acute Multifocal Sialadenitis with Unknown Origin: Diagnostic Workup and Valuable Knowledge from an Unusual Clinical Case
2026
Salivary gland swelling can be a challenge for clinicians, and there are various reasons why. Many diseases may affect salivary tissue, and it is important to be familiar with their symptoms and paraclinical findings. Knowing the most common etiologies of multifocal swelling of salivary glands and the precise use of different clinical and paraclinical modalities can improve diagnostic accuracy. The goal of our research is to present a rare clinical case of acute multifocal sialadenitis of major and minor salivary glands of unknown origin and to discuss the differential diagnostic options that can improve timely, accurate treatment and improve the result of the treatment.
Journal Article
Sudden cardiac arrest in infants and children: proposal for a diagnostic workup to identify the etiology. An 18-year multicenter evaluation in the Netherlands
by
Bakker, Ashley M.
,
Blom, Nico A.
,
Rammeloo, Lukas A. J.
in
Arrhythmia
,
Autopsy
,
Cardiac arrest
2024
Sudden cardiac arrest (SCA) studies are often population-based, limited to sudden cardiac death, and excluding infants. To guide prevention opportunities, it is essential to be informed of pediatric SCA etiologies. Unfortunately, etiologies frequently remain unresolved. The objectives of this study were to determine paediatric SCA etiology, and to evaluate the extent of post-SCA investigations and to assess the performance of previous cardiac evaluation in detecting conditions predisposing to SCA. In a retrospective cohort (2002–2019), all children 0–18 years with out-of-hospital cardiac arrest (OHCA) referred to Erasmus MC Sophia Children's Hospital or the Amsterdam UMC (tertiary-care university hospitals), with cardiac or unresolved etiologies were eligible for inclusion. SCA etiologies, cardiac and family history and etiologic investigations in unresolved cases were assessed. The etiology of arrest could be determined in 52% of 172 cases. Predominant etiologies in children ≥ 1 year (n = 99) were primary arrhythmogenic disorders (34%), cardiomyopathies (22%) and unresolved (32%). Events in children < 1 year (n = 73) were largely unresolved (70%) or caused by cardiomyopathy (8%), congenital heart anomaly (8%) or myocarditis (7%). Of 83 children with unresolved etiology a family history was performed in 51%, an autopsy in 51% and genetic testing in 15%. Pre-existing cardiac conditions presumably causative for SCA were diagnosed in 9%, and remained unrecognized despite prior evaluation in 13%.
Conclusion
: SCA etiology remained unresolved in 83 of 172 cases (48%) and essential diagnostic investigations were often not performed. Over one-fifth of SCA patients underwent prior cardiac evaluation, which did not lead to recognition of a cardiac condition predisposing to SCA in all of them. The diagnostic post-SCA approach should be improved and the proposed standardized pediatric post-SCA diagnostics protocol may ensure a consistent and systematic evaluation process increasing the diagnostic yield.
What is Known:
• Arrests in infants remain unresolved in most cases. In children > 1 year, predominant etiologies are primary arrhythmia disorders, cardiomyopathy and myocarditis.
• Studies investigating sudden cardiac arrest are often limited to sudden cardiac death (SCD) in 1 to 40 year old persons, excluding infants and successfully resuscitated children.
What is New:
• In patients with unresolved SCA events, the diagnostic work up was often incompletely performed.
• Over one fifth of victims had prior cardiac evaluation before the arrest, with either a diagnosed cardiac condition (9%) or an unrecognized cardiac condition (13%).
Graphical Abstract
Journal Article
Diagnostic Workup of Mosaicism in Children
by
Virdi, Annalucia
,
Piraccini, Bianca Maria
,
Neri, Iria
in
cutaneous mosaicism
,
diagnostic workup
,
paediatric dermatology
2025
Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.
Journal Article
Communication about diagnosis, prognosis, and prevention in the memory clinic: perspectives of European memory clinic professionals
by
van Gils, Aniek M.
,
Mangialasche, Francesca
,
Rhodius-Meester, Hanneke F. M.
in
Alzheimer's disease
,
Biomarkers
,
Biomedical and Life Sciences
2023
Background
The paradigm shift towards earlier Alzheimer’s disease (AD) stages and personalized medicine creates new challenges for clinician-patient communication. We conducted a survey among European memory clinic professionals to identify opinions on communication about (etiological) diagnosis, prognosis, and prevention, and inventory needs for augmenting communication skills.
Methods
Memory clinic professionals (
N
= 160) from 21 European countries completed our online survey (59% female, 14
±
10 years' experience, 73% working in an academic hospital). We inventoried (1) opinions on communication about (etiological) diagnosis, prognosis, and prevention using 11 statements; (2) current communication practices in response to five hypothetical cases (AD dementia, mild cognitive impairment (MCI), subjective cognitive decline (SCD), with ( +) or without ( −) abnormal AD biomarkers); and (3) needs for communication support regarding ten listed communication skills.
Results
The majority of professionals agreed that communication on diagnosis, prognosis, and prevention should be personalized to the individual patient. In response to the hypothetical patient cases, disease stage influenced the inclination to communicate an etiological AD diagnosis: 97% would explicitly mention the presence of AD to the patient with AD dementia, 68% would do so in MCI + , and 29% in SCD + . Furthermore, 58% would explicitly rule out AD in case of MCI − when talking to patients, and 69% in case of SCD − . Almost all professionals (79–99%) indicated discussing prognosis and prevention with all patients, of which a substantial part (48–86%) would personalize their communication to patients’ diagnostic test results (39–68%) or patients’ anamnestic information (33–82%). The majority of clinicians (79%) would like to use online tools, training, or both to support them in communicating with patients. Topics for which professionals desired support most were: stimulating patients’ understanding of information, and communicating uncertainty, dementia risk, remotely/online, and with patients not (fluently) speaking the language of the country of residence.
Conclusions
In a survey of European memory clinic professionals, we found a strong positive attitude towards communication with patients about (etiological) diagnosis, prognosis, and prevention, and personalization of communication to characteristics and needs of individual patients. In addition, professionals expressed a need for supporting tools and skills training to further improve their communication with patients.
Journal Article
Inherent clinical properties of non‐immediate hypersensitivity to iodinated contrast media
by
Edvardas Tamosiunas, Algirdas
,
Orvydaite, Monika
,
Petraityte, Paulina
in
Adult
,
Aged
,
Contrast agents
2021
Background Iodinated contrast media (ICM) is a frequently used compound in radiology. Non‐immediate hypersensitivity reactions (HSR) appear when a patient leaves the department and usually are undocumented. True hypersensitivity in this group is rarely proved. Methods Single‐centre 2014‐2018 data were retrospectively analysed. HSR to ICM were classified and investigated according to the time of occurrence (immediate <1 hour, non‐immediate >1 hour). ENDA questionnaire and skin tests (prick or intradermal test) were performed according to ENDA/EAACI recommendations. Results 69 patients with a clinical history of HSR to ICM were identified, 72.46% were females (n = 50). The average age was 56 (SD ± 13.16) years. Non‐immediate HSR occurred in 28.99% (n = 20) patients. The suspected culprit drugs were: iodixanol 20% (n = 4), iopromide 5% (n = 1), diatrizoate 10% (n = 2) and iohexol 10% (n = 2). Among non‐immediate HSR 96.00% (n = 19) of patients had skin rashes. A statistically significant correlation was found between the clinical symptoms and the type of reaction (p‐value <0.05): isolated skin manifestations mostly occurred in non‐immediate HSR 75.00% (n = 15). Only 13.04% (n = 9) of all the patients were proved to be allergic to a certain ICM after the proposed diagnostic workup. Conclusions One‐third of the hypersensitivity reactions investigated were classified as non‐immediate type. Most of them manifested with isolated skin symptoms. The most frequent culprit drug encountered was iodixanol. The overall non‐immediate hypersensitivity confirmation rate after diagnostic evaluation was only 15%.
Journal Article
Fungal endocarditis. A retrospective analysis from a high-volume surgical centre and review of the literature
2025
Purpose
Fungal endocarditis (FE), a rare but severe subset of infective endocarditis (IE), accounts for 2–4% of cases, with significant morbidity and mortality despite combined clinical and surgical interventions. The incidence of FE has been rising due to an increase in patients with predisposing risk factors, such as prosthetic heart valves, indwelling central venous catheters, prolonged fungemia, and intravenous drug use, alongside advancements in diagnostic techniques. Diagnosing FE is challenging due to nonspecific symptoms and often negative or delayed blood culture results, necessitating repeated cultures and sometimes surgical specimen collection for confirmation. FE is associated with a higher incidence of extracardiac complications, such as systemic and central nervous system embolization, compared to bacterial endocarditis.
Methods
This study retrospectively analyzed 687 patients with non-device-related IE admitted to a high-volume surgical center from January 2013 to December 2023, identifying 8 cases of FE (1.2%). The diagnostic work-up followed European Society of Cardiology guidelines, including blood cultures and echocardiography. Management involved a multidisciplinary team approach, combining antifungal therapy and early surgical intervention.
Results
Despite advancements, the prognosis of FE remains poor, with a mortality rate exceeding 50%. Early diagnosis and timely intervention, including early surgery, are crucial for improving outcomes.
Conclusion
This study and the review of the literature aim to enhance understanding of FE by reviewing clinical presentations, diagnostic challenges, and management strategies, emphasizing the importance of a high index of suspicion and comprehensive diagnostic evaluation in high-risk patients.
Journal Article
Primary angiitis of the CNS and ANCA-associated vasculitis: from pathology to treatment
Vasculitis of the central nervous system can be a localized process, such as primary angiitis of the central nervous system (PACNS), or systemic vasculitis, such as ANCA-associated vasculitis (AAV). Since both conditions share neurological manifestations, the following review will discuss the neurological aspects of both. This review aims to provide a comprehensive comparison of the pathogenesis, clinical manifestation and assessment, diagnostic workup, and treatment protocol for both PACNS and AAV with central nervous system involvement. To provide a comprehensive comparison and update, a literature review was conducted using PubMed and Ovid databases (Embase and Medline). Then, the references were retrieved, screened, and selected according to the inclusion and exclusion criteria. PACNS and AAV share similarities in clinical presentation and neurological symptoms, especially in terms of headache, focal deficits, and cognitive impairment. Additionally, both conditions may exhibit similarities in laboratory and radiological findings, making brain biopsy the gold standard for differentiation between the two conditions. Moreover, the treatment protocols for PACNS and AAV are nearly identical. Comparing PACNS and AAV with CNS involvement highlights the similarities in clinical presentation, radiological findings, and treatment protocols between the two conditions. Further research should focus on establishing a practical diagnostic protocol.
Journal Article
Timing of diagnostic workups in Chinese population with recurrent pregnancy loss: a cross-sectional study
by
Zhang, Liyang
,
Zhou, Jingshuang
,
Liu, Chuanyang
in
Abortion, Habitual - diagnosis
,
Abortion, Habitual - epidemiology
,
Abortion, Habitual - etiology
2025
Background
There are no specific guidelines regarding the definition, diagnostic workup and treatment of recurrent pregnancy loss (RPL) in China at present. Whether the diagnostic workup should occur after two or three or more pregnancy losses in the Chinese population is not clear.
Methods
This cross-sectional study collected data from January 2017 to December 2022 from the RPL Clinic at Shengjing Hospital, affiliated with China Medical University. The results of diagnostic tests for evidence-based and possible risk factors of RPL,which is defined as two or more failed clinical pregnancies, were collected. The data collected include parental chromosomal karyotypes, immune factors (anticardiolipin antibody, anti-β2-glycoprotein I antibody, lupus anticoagulants, and antinuclear antibodies), endocrine factors (polycystic ovary syndrome, thyroid dysfunction, hyperprolactinemia, obesity, and glucose abnormalities), anatomical factors (uterine malformations, endometrial polyps, intrauterine adhesions, uterine fibroids or adenomyosis), coagulation factors (thrombelastogram, antithrombin III, and homocysteine levels) and other factors (vitamin D levels, MTHFR polymorphisms and ultrasound indices of endometrial receptivity). All these data were compared between patients with two or three or more pregnancy losses.
Results
Among all 785 patients with RPL, the rates of abnormal anatomical factors (40.96% versus 32.94%,
P
= 0.021, OR 1.41, (95% Cl 1.05–1.89)), endometrial polyps (6.21% versus 3.06%,
P
= 0.034, OR 2.10, (95% Cl 1.04–4.23)) and obesity (13.76% versus 5.59%,
P
< 0.0001, OR 2.69, (95% Cl 1.62–4.49)) were significantly higher in people with three or more pregnancy losses than in people with two pregnancy losses. The rates of other diagnostic tests were not statistically significant between the two groups.
Conclusion
Based on the high rate of abnormal test results in the Chinese RPL population, our findings may provide evidence for patients in our area begin routine etiological screening after two pregnancy losses.
Trial registration
ClinicalTrials.gov Identifier: NCT03561766, 18/5/2018.
Journal Article
Diagnostik des chronischen Hustens
by
Gillissen, A
2023
Der chronische Husten ist definiert als ein Husten, der > 8 Wochen andauert. Husten ist die am häufigsten von Patienten berichtete Symptom in der pneumologischen Arztpraxis. Obwohl in den letzten 30 Jahren substanzielle Fortschritte in der Beschreibung der dem Husten zugrunde liegenden physiologischen und pathologischen Mechanismen sowie auch in der Therapie gemacht wurden, gibt es bzgl. des diagnostischen Vorgehens keinen allgemein gültigen Konsens. Diese Übersicht fasst auf der Basis von empirischen Studien, Leitlinien sowie Expertenempfehlungen die verschiedenen diagnostischen Methoden zusammen und macht einen Vorschlag in Form eines diagnostischen Algorithmus.
Journal Article