Practical Diagnostic Approach Research Articles

The Diagnosis and Treatment of Acute Cholecystitis: A Comprehensive Narrative Review for a Practical Approach.

Acute cholecystitis (AC), generally associated with the presence of gallstones, is a relatively frequent disease that can lead to serious complications. For these reasons, AC warrants prompt clinical diagnosis and management. There is general agreement in terms of considering early laparoscopic cholecystectomy (ELC) to be the best treatment for AC. The optimal timeframe to perform ELC is within 72 h from diagnosis, with a possible extension of up to 7-10 days from symptom onset. In the first hours or days after hospital admission, before an ELC procedure, the patient's medical management comprises fasting, intravenous fluid infusion, antimicrobial therapy, and possible administration of analgesics. Additionally, concomitant conditions such as choledocholithiasis, cholangitis, biliary pancreatitis, or systemic complications must be recognized and adequately treated. The importance of ELC is related to the frequent recurrence of symptoms and complications of gallstone disease in the interval period between the onset of AC and surgical intervention. In patients who are not eligible for ELC, it is suggested to delay surgery at least 6 weeks after the clinical presentation. Critically ill patients, who are unfit for surgery, may require rescue treatments, such as percutaneous or endoscopic gallbladder drainage (GBD). A particular treatment approach should be applied to special populations such as pregnant women, cirrhotic, and elderly patients. In this review, we provide a practical diagnostic and therapeutic approach to AC, even in specific clinical situations, based on evidence from the literature.

An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis.

Thrombocytosis is a common reason for referral to Hematology. Differentiating between secondary causes of thrombocytosis and essential thrombocythemia (ET) is often clinically challenging. A practical diagnostic approach to identify secondary thrombocytosis could reduce overinvestigation such as next generation sequencing (NGS) panel. All adult patients with thrombocytosis (≥450 × 109/L) who underwent molecular testing at a single tertiary care centre between January 1, 2018 and May 31, 2021 were evaluated. Clinical and laboratory variables were compared between patients with secondary thrombocytosis vs. ET. Clinical variables included smoking, thrombosis, splenectomy, active malignancy, chronic inflammatory disease, and iron deficiency anemia. Laboratory variables included complete blood count (CBC), ferritin, and myeloid mutations detected by NGS. The overall yield of molecular testing was 52.4%; 92.1% of which were mutations in JAK2, CALR, and/or MPL. Clinical factors predictive of ET included history of arterial thrombosis (p < 0.05); active malignancy, chronic inflammatory disease, splenectomy, and iron deficiency were associated with secondary thrombocytosis (p < 0.05). A diagnosis of ET was associated with higher hemoglobin, mean corpuscular volume (MCV), red cell distribution width (RDW), and mean platelet volume (MPV), while secondary thrombocytosis was associated with higher body mass index, white blood cells, and neutrophils (p < 0.01). A practical approach to investigating patients with persistent thrombocytosis based on clinical characteristics such as active malignancy, chronic inflammatory disease, splenectomy, and iron deficiency may assist in accurately identifying patients more likely to have secondary causes of thrombocytosis and reduce overinvestigation, particularly costly molecular testing.

Cutaneous Disorders Masking Celiac Disease: Case Report and Mini Review with Proposal for a Practical Clinical Approach.

Celiac disease (CD) is an immune-mediated systemic gluten-related disorder characterized by a wide spectrum of intestinal and extra-intestinal manifestations, including damage to cutaneous and connective tissue. We report a rare case of chronic severe dermatitis involving connective tissue and cutaneous vascular vessels as the main clinical presentation of undiagnosed seronegative gluten disorder. A gluten-free diet dramatically improved the intestinal and cutaneous clinical damage in the patient. Pitfalls and the steps of differential diagnosis are described. We also review the literature regarding studies of CD and connective tissue diseases to extend the knowledge of these rare associations. We propose a practical diagnostic approach in suspected CD in autoimmune cutaneous disorders.

Acute unilateral vestibulopathy: a practical diagnostic approach and new insight on management

Acute unilateral vestibulopathy: a practical diagnostic approach and new insight on management

Visual detection of fowl adenovirus serotype 4 via a portable CRISPR/Cas13a-based lateral flow assay

ABSTRACT The widespread occurrence of fowl adenovirus serotype 4 (FAdV-4)-induced hepatitis-hydropericardium syndrome (HHS) has led to significant economic losses for the poultry industry. A sensitive, accurate, and practical FAdV-4 diagnostic approach is urgently required to limit the incidence of the disease. In the present study, a practical method for detecting FAdV-4 was developed using the CRISPR/Cas13a system and recombinase-aided amplification. The approach was based on 37°C isothermal detection with visible results being achieved. The detection limit of the target gene with this approach was only 101 copies/μl, making it very sensitive and specific. Clinical samples fared well when tested with the Cas13a detection method. For identifying FAdV-4, this novel detection approach was found to be sensitive, specific, and effective. RESEARCH HIGHLIGHTS First study using the CRISPR/Cas13a-based lateral flow detection assay for FAdV-4 detection. The results can be observed by the naked eye. The developed assay could provide an alternative tool for detection of FAdV-4 with minimal equipment.

Exudative pleural effusion caused by lung fluke infection: A practical diagnostic approach

Objectives: Pleural effusion caused by lung fluke is a rare etiology of exudative pleural effusion (EPE), which is often misdiagnosed or delayed. We aim to summarize the diagnosis and treatment course of EPE caused by lung fluke infection and put forward a practical diagnosis approach.Methods: We retrospectively analyzed the diagnosis and treatment of 14 cases of EPE caused by lung fluke infection diagnosed by enzyme-linked immunosorbent assay of serum antibodies or egg detection.Results: All patients (100%) with an absolute count of eosinophils in peripheral blood exceeded 0.5 × 109/l, and 10 patients (71.4%) had a history of special ingestion. Eosinophilic PE occurred in 11 patients (78.6%), pleural biopsy of medical thoracoscopic demonstrated eosinophils infiltration in nine patients (64.3%), and parasite eggs in one patient. All patients showed positive intradermal tests for Paragonimus-specific antigens and enzyme-linked immunosorbent assay of serum antibodies to Paragonimus.Conclusion: For patients with unexplained PE, lung fluke infection should be highly suspected when pleural fluid or pleural biopsy shows eosinophilic PE or eosinophils infiltration, especially for patients with certain diet history.

Borderline Hepatocellular Adenomas: A Practical Diagnostic Approach Based on Pathologic and Molecular Features

Borderline hepatocellular adenomas (BL-HCA) are characterized by focal architectural/cytologic atypia and reticulin loss, features that are insufficient for a definitive diagnosis of hepatocellular carcinoma (HCC). The diagnosis and management of BL-HCA are challenging as their biological behavior, especially in terms of malignant potential, is still debated. We aimed to compare the clinicopathologic and molecular features of BL-HCA with those of typical HCA (T-HCA), HCA with malignant transformation (HCC on HCA), and HCC to assess the risk of malignancy. One hundred six liver resection specimens were retrospectively selected from 2 reference centers, including 39 BL-HCA, 42 T-HCA, 12 HCC on HCA, and 13 HCC specimens. Somatic mutations, including TERT promoter mutations associated with HCA malignant transformation and the gene expression levels of 96 genes, were investigated in 93 frozen samples. Additionally, TERT promoter mutations were investigated in 44 formalin-fixed, paraffin-embedded samples. The clinical features of patients with BL-HCA were similar to those of patients with T-HCA, patients being mainly women (69%) with a median age of 37 years. The median tumor size was 7.5 cm, 64% of patients had a single nodule, and no recurrence was observed. Compared with T-HCA, BL-HCA was significantly enriched in β-catenin–mutated HCA in exon 3 (41% vs 6%; P < .001). Unsupervised statistical analysis based on gene expression showed that BL-HCA overlapped with T-HCA and HCC on HCA, favoring a molecular continuum of the tumors. TERT promoter mutations were observed only in HCC on HCA (42%) and in HCC (38%). In conclusion, these results suggest that despite their worrisome morphologic features, the clinicopathologic and molecular features of BL-HCA are much closer to those of T-HCA than those of HCC on HCA or HCC. This strongly supports the usefulness of combining morphologic and molecular analyses in a practical diagnostic approach for guiding the management of BL-HCA.

Network and functional analyses of differentially expressed genes in gastric cancer provide new biomarkers associated with disease pathogenesis

BackgroundGastric cancer is a dominant source of cancer-related death around the globe and a serious threat to human health. However, there are very few practical diagnostic approaches and biomarkers for the treatment of this complex disease.MethodsThis study aimed to evaluate the association between differentially expressed genes (DEGs), which may function as potential biomarkers, and the diagnosis and treatment of gastric cancer (GC). We constructed a protein-protein interaction network from DEGs followed by network clustering. Members of the two most extensive modules went under the enrichment analysis. We introduced a number of hub genes and gene families playing essential roles in oncogenic pathways and the pathogenesis of gastric cancer. Enriched terms for Biological Process were obtained from the “GO” repository.ResultsA total of 307 DEGs were identified between GC and their corresponding normal adjacent tissue samples in GSE63089 datasets, including 261 upregulated and 261 downregulated genes. The top five hub genes in the PPI network were CDK1, CCNB1, CCNA2, CDC20, and PBK. They are involved in focal adhesion formation, extracellular matrix remodeling, cell migration, survival signals, and cell proliferation. No significant survival result was found for these hub genes.ConclusionsUsing comprehensive analysis and bioinformatics methods, important key pathways and pivotal genes related to GC progression were identified, potentially informing further studies and new therapeutic targets for GC treatment.

Dedifferentiated and undifferentiated melanomas: a practical approach to a challenging diagnosis

Dedifferentiation, defined as the loss of cellular features of terminal differentiation resulting in a more primitive, unspecialized phenotype, is a rare phenomenon in melanoma and more commonly observed in the metastatic setting than in primary melanomas. The diagnosis of dedifferentiated melanoma poses a significant challenge, and the tumors need to be carefully sampled and worked up to identify any residual morphologic, immunohistochemical, or molecular evidence of their melanocytic lineage. This article reviews our current knowledge of the clinical, histopathological, immunohistochemical, and molecular features of these rare tumors and provides a practical diagnostic approach and discussion of the relevant differential diagnoses and associated diagnostic pitfalls.

Primary endometrial gastric (gastro-intestinal)-type carcinoma: A practical approach

The latest WHO classification of the female genital tract tumors introduces a new type of carcinoma: the primary gastric-type (or gastro-intestinal type) carcinoma of the endometrium. This type of neoplasm tends to have a poor outcome, making its correct diagnostic important. As little is known about this entity and given its quite challenging diagnosis, we aim to review existing data about it and propose a practical diagnostic approach. There are currently 11 cases published in 8 articles fitting the precise definition of a primary gastric-type carcinoma of the endometrium. Three main differential diagnoses must be excluded before considering this tumor: endometrioid adenocarcinoma with mucinous (Müllerian-type) differentiation, endocervical primary, and gastro-intestinal primary. Morphological aspects of this tumor can be heterogeneous and confusing; in this context, immunochemistry can be helpful to highlight the gastric or intestinal differentiation, but also to eliminate a mucinous endometrioid adenocarcinoma of Müllerian-type, by the constant negativity of estrogen receptors. A metastasis of a primary gastro-intestinal tract carcinoma must also be excluded by clinical, endoscopic and imaging work-up. Finally, an endometrial extension of a primary endocervical gastric-type carcinoma should be ruled out by complete sampling of the cervix. Intestinal type endocervical adenocarcinoma is easier to eliminate since this is an HPV-associated neoplasm.

Intelligent Rolling Bearing Fault Diagnosis Method Using Symmetrized Dot Pattern Images and CBAM-DRN

Rolling bearings are a vital component of mechanical equipment. It is crucial to implement rolling bearing fault diagnosis research to guarantee the stability of the long-term action of mechanical equipment. Conversion of rolling bearing vibration signals into images for fault diagnosis research has been a practical diagnostic approach. The current paper presents a rolling bearing fault diagnosis method using symmetrized dot pattern (SDP) images and a deep residual network with convolutional block attention module (CBAM-DRN). The rolling bearing vibration signal is first visualized and transformed into an SDP image with distinct fault characteristics. Then, CBAM-DRN is utilized to derive characteristics directly and detect faults from the input SDP images. In order to prevent conventional time-frequency images from being limited by their inherent flaws and avoid missing the fault features, the SDP technique is employed to convert vibration signals into images for visualization. DRN enables adequate extraction of rolling bearing fault characteristics and prevents training difficulties and gradient vanishing in deep level networks. CBAM assists the diagnostic model in concentrating on the image's more distinctive parts and preventing the interference of non-featured parts. Finally, the method's validity was tested with a composite fault dataset of motor bearings containing multiple loads and fault diameters. The experimental results reflect that the presented approach can attain a diagnostic precision of over 99% and good stability and generalization.

Simple approach for the histomolecular diagnosis of central nervous system gliomas based on 2021 World Health Organization Classification

The classification of central nervous system (CNS) glioma went through a sequence of developments, between 2006 and 2021, started with only histological approach then has been aided with a major emphasis on molecular signatures in the 4th and 5th editions of the World Health Organization (WHO). The recent reformation in the 5th edition of the WHO classification has focused more on the molecularly defined entities with better characterized natural histories as well as new tumor types and subtypes in the adult and pediatric populations. These new subclassified entities have been incorporated in the 5th edition after the continuous exploration of new genomic, epigenomic and transcriptomic discovery. Indeed, the current guidelines of 2021 WHO classification of CNS tumors and European Association of Neuro-Oncology (EANO) exploited the molecular signatures in the diagnostic approach of CNS gliomas. Our current review presents a practical diagnostic approach for diffuse CNS gliomas and circumscribed astrocytomas using histomolecular criteria adopted by the recent WHO classification. We also describe the treatment strategies for these tumors based on EANO guidelines.

Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies.

Lymphocyte-rich effusions represent benign reactive process or neoplastic condition. Involvement of lymphoproliferative disease in body cavity is not uncommon, and it often causes diagnostic challenge. In this review, we suggest a practical diagnostic approach toward lymphocyte-rich effusions, share representative cases, and discuss the utility of ancillary tests. Cytomorphologic features favoring neoplastic condition include high cellularity, cellular atypia/pleomorphism, monomorphic cell population, and frequent apoptosis, whereas lack of atypia, polymorphic cell population, and predominance of small T cells usually represent benign reactive process. Involvement of non-hematolymphoid malignant cells in body fluid should be ruled out first, followed by categorization of the samples into either small/medium-sized cell dominant or large-sized cell dominant fluid. Small/medium-sized cell dominant effusions require ancillary tests when either cellular atypia or history/clinical suspicion of lymphoproliferative disease is present. Large-sized cell dominant effusions usually suggest neoplastic condition, however, in the settings of initial presentation or low overall cellularity, ancillary studies are helpful for more clarification. Ancillary tests including immunocytochemistry, in situ hybridization, clonality test, and next-generation sequencing can be performed using cytologic preparations. Throughout the diagnostic process, proper review of clinical history, cytomorphologic examination, and application of adequate ancillary tests are key elements for successful diagnosis.

Autoimmune disease of head and neck, imaging, and clinical review.

Autoimmune disease of the head and neck (H&N) could be primary or secondary to systemic diseases, medications, or malignancies. Immune-mediated diseases of the H&N are not common in daily practice of radiologists; the diagnosis is frequently delayed because of the non-specific initial presentation and lack of familiarity with some of the specific imaging and clinical features. In this review, we aim to provide a practical diagnostic approach based on the specific radiological findings for each disease. We hope that our review will help radiologists expand their understanding of the spectrum of the discussed disease entities, help them narrow the differential diagnosis, and avoid unnecessary tissue biopsy when appropriate based on the specific clinical scenarios.

Invasive aspergillosis in coronavirus disease 2019: a practical approach for clinicians.

Purpose of reviewInvasive pulmonary aspergillosis (IPA) can affect patients with severe coronavirus disease 2019 (COVID-19), but many questions remain open about its very variable incidence across the world, the actual link between the viral infection and the fungal superinfection, the significance of Aspergillus recovery in a respiratory sample, and the management of such cases. This review addresses these questions and aims at providing some clues for the practical diagnostic and therapeutic approaches of COVID-19-associated pulmonary aspergillosis (CAPA) in a clinical perspective.Recent findingsDefinitions have been proposed for possible/probable/proven CAPA, but distinction between colonization and invasive fungal infection is difficult and not possible in most cases in the absence of histopathological proof or positive galactomannan in serum. Most importantly, the recovery of an Aspergillus by a direct (culture, PCR) or indirect (galactomannan) test in a respiratory sample is an indicator of worse outcome, which justifies a screening for early detection and initiation of preemptive antifungal therapy in such cases.SummaryThe COVID-19 pandemic has increased our awareness of IPA among ICU patients. Although current recommendations are mainly based on experts’ opinions, prospective studies are needed to get more evidence-based support for the diagnostic approach and management of CAPA.

Correlation between teat length and lactation periods on the level of subclinical mastitis occurrence in Sappy Valley Farm

This study aims to determine the correlation between dairy cattle teat length at several lactation periods and subclinical mastitis profile. This study used 43 dairy cattle at several lactation periods. The lactation periods of the cows studied were lactation periods 1, 2, and 3. Subclinical mastitis testing used IPB-1 Mastitis Test, and teat length was measured using a measuring tape (cm). The data is taken and then analyzed using the average and described. The results showed that the average teat length of 5.11 cm did not experience subclinical mastitis, while the average teat length was 5.48 cm, 6.09 cm, and 7.28 cm, respectively, had subclinical mastitis. The highest incidence of subclinical mastitis is influenced by teat length and lactation period. The length of the teat and the lactation period, the higher the severity of subclinical mastitis. These findings are essential for a practical clinical diagnostic approach in dairy cattle with subclinical mastitis.

EBV-Driven Lymphoproliferative Disorders and Lymphomas of the Gastrointestinal Tract: A Spectrum of Entities with a Common Denominator (Part 3).

Simple SummaryThe Epstein–Barr virus (EBV) is a commonly occurring virus, infecting more than 90% of the world population, often early in life. However, only a minority of individuals develop EBV-driven diseases at some point in their lifetime. EBV is associated with several neoplasms including epithelial, mesenchymal and lymphoid tumors. EBV-driven lymphoid proliferations encompass a wide spectrum of diseases with different biological behaviors, developing frequently, although not always, in conditions of immunosuppression. The diagnosis is often complicated and requires a strict combination of clinical, pathological and molecular findings. The aim of this review, divided into three parts, is to provide an update on EBV-driven lymphoproliferative disorders arising in the gastrointestinal tract. In this review, we discuss the chronic active EBV infection of T-cell and NK-cell type, its systemic form; extranodal NK/T-cell lymphoma, nasal type and post-transplant lymphoproliferative disorders.EBV is the first known oncogenic virus involved in the development of several tumors. The majority of the global population are infected with the virus early in life and the virus persists throughout life, in a latent stage, and usually within B lymphocytes. Despite the worldwide diffusion of EBV infection, EBV-associated diseases develop in only in a small subset of individuals often when conditions of immunosuppression disrupt the balance between the infection and host immune system. EBV-driven lymphoid proliferations are either of B-cell or T/NK-cell origin, and range from disorders with an indolent behavior to aggressive lymphomas. In this review, which is divided in three parts, we provide an update of EBV-associated lymphoid disorders developing in the gastrointestinal tract, often representing a challenging diagnostic and therapeutic issue. Our aim is to provide a practical diagnostic approach to clinicians and pathologists who face this complex spectrum of disorders in their daily practice. In this part of the review, the chronic active EBV infection of T-cell and NK-cell type, its systemic form; extranodal NK/T-cell lymphoma, nasal type and post-transplant lymphoproliferative disorders are discussed.

Primary Gastrointestinal T-Cell Lymphoma and Indolent Lymphoproliferative Disorders: Practical Diagnostic and Treatment Approaches.

Simple SummaryIt is challenging for pathologists to diagnose primary gastrointestinal T-cell neoplasms. Besides the rarity of the diseases, the small biopsy material makes it more difficult to differentiate between non-neoplastic inflammation and secondary involvement of extra gastrointestinal lymphoma. Since this group of diseases ranges from aggressive ones with a very poor prognosis to indolent ones that require caution to avoid overtreatment, the impact of the diagnosis on the patient is enormous. Although early treatment of aggressive lymphoma is essential, the treatment strategy is not well established, which is a problem for clinicians. This review provides a cross-sectional comparison of histological findings. Unlike previous reviews, we summarized up-to-date clinically relevant information including the treatment strategies as well as practical differential diagnosis based on thorough literature review.Primary gastrointestinal (GI) T-cell neoplasms are extremely rare heterogeneous disease entities with distinct clinicopathologic features. Given the different prognoses of various disease subtypes, clinicians and pathologists must be aware of the key characteristics of these neoplasms, despite their rarity. The two most common aggressive primary GI T-cell lymphomas are enteropathy-associated T-cell lymphoma and monomorphic epitheliotropic intestinal T-cell lymphoma. In addition, extranodal natural killer (NK)/T-cell lymphoma of the nasal type and anaplastic large cell lymphoma may also occur in the GI tract or involve it secondarily. In the revised 4th World Health Organization classification, indolent T-cell lymphoproliferative disorder of the GI tract has been incorporated as a provisional entity. In this review, we summarize up-to-date clinicopathological features of these disease entities, including the molecular characteristics of primary GI T-cell lymphomas and indolent lymphoproliferative disorders. We focus on the latest treatment approaches, which have not been summarized in existing reviews. Further, we provide a comprehensive review of available literature to address the following questions: How can pathologists discriminate subtypes with different clinical prognoses? How can primary GI neoplasms be distinguished from secondary involvement? How can these neoplasms be distinguished from non-specific inflammatory changes at an early stage?

Elbow Stiffness Imaging: A Practical Diagnostic and Pretherapeutic Approach.

Loss of elbow motion can lead to disability in everyday gestures, recreational activities, and work. Unfortunately, the elbow joint is particularly prone to stiffness because of its complex anatomy and biomechanics. The etiology of elbow stiffness is varied and must be diagnosed accurately in order to allow optimal treatment, which may be challenging for surgeons and physiotherapists. Its treatment can be either conservative, arthroscopic or surgical, with a trend for arthroscopic procedures when conservative treatment fails. There is no consensus on the optimal imaging workup for elbow joint stiffness, which may have an impact on patient management. This article reviews the current classification systems of elbow stiffness and the various imaging techniques used for diagnosis. Report checklists and clarifications on the role of each imaging method, as well as the imaging findings of normal and stiff elbows, are presented, leading to a proposed diagnostic algorithm. The main concern in imaging is to determine the cause of elbow stiffness, as many concomitant abnormalities might be present depending on the clinical scenario.

Autoimmune diseases of the brain, imaging and clinical review.

There is an extensive spectrum of autoimmune entities that can involve the central nervous system, which has expanded with the emergence of new imaging modalities and several clinicopathologic entities. Clinical presentation is usually non-specific, and imaging has a critical role in the workup of these diseases. Immune-mediated diseases of the brain are not common in daily practice for radiologists and, except for a few of them such as multiple sclerosis, there is a vague understanding about differentiating them from each other based on the radiological findings. In this review, we aim to provide a practical diagnostic approach based on the unique radiological findings for each disease. We hope our diagnostic approach will help radiologists expand their basic understanding of the discussed disease entities and narrow the differential diagnosis in specific clinical scenarios. An understanding of unique imaging features of these disorders, along with laboratory evaluation, may enable clinicians to decrease the need for tissue biopsy.