Diagnostic Approach Research Articles

Paper-based aptasensor for electrochemical detection of polyvalent antigen of dengue virus

ABSTRACT Dengue virus (DENV) is one of the most transmittable diseases. Numerous countries still face severe illness or deaths due to DENV. To date, there is no vaccine or effective drug available for this. Therefore, to overcome the burden of the disease, an early & sensitive diagnostic approach shows a main part in the management of dengue disease. The present research is aimed to construct PBAs i.e. paper-based aptasensor for the detection of all serotypes of DENV. The proposed biosensor has several advantages, including being simple, low-cost, reproducible, and disposable. The aptasensor uses a three-electrode system, with the working electrode containing a silver/zinc nanocomposite that was chemically synthesised. The characterisation of the zinc/silver nanocomposite were evaluated using UV-vis spectra, XRD, & FESEM. Aptamers were also employed to increase the sensor’s functioning. This aptamer functionalised sensor was employed to improvise the selectivity of the developed platform. The outcomes of aptasensor was evaluated via CV/LSV, which was verified using a potentiostat. The established paper-based aptasensor delivered ideal response and a broad linear variety of 0.1–1000 µg/ml for the DENV virus, having 0.1 µg/ml (LOD). The developed PBAs, or paper-based aptasensors, might be particularly useful in point-of-care diagnostic applications. This biosensor is capable of detecting polyvalent DENV-Antigen of 4 serotypes of DENV and hence, this research provides sensitive diagnosis of serotypes on a same platform and also offers viable diagnostic apparatus for rural places with limited resources, for people who can’t afford costly medical procedures and have a finite access to professional staff.

Recommendations for cardiovascular magnetic resonance and computed tomography in congenital heart disease: a consensus paper from the CMR/CCT Working Group of the Italian Society of Pediatric Cardiology and the Italian College of Cardiac Radiology endorsed by the Italian Society of Medical and Interventional Radiology (Part II).

Cardiovascular magnetic resonance (CMR) and computed tomography (CCT) are advanced imaging modalities that recently revolutionized the conventional diagnostic approach to congenital heart diseases (CHD), supporting echocardiography and often replacing cardiac catheterization. This is the second of two complementary documents, endorsed by experts from the Working Group of the Italian Society of Pediatric Cardiology and the Italian College of Cardiac Radiology of the Italian Society of Medical and Interventional Radiology, aimed at giving updated indications on the appropriate use of CMR and CCT in different clinical CHD settings, in both pediatrics and adults. In this article, support is also given to radiologists, pediatricians, cardiologists, and cardiac surgeons for indications and appropriateness criteria for CMR and CCT in the most referred CHD, following the proposed new criteria presented and discussed in the first document. This second document also examines the impact of devices and prostheses for CMR and CCT in CHD and additionally presents some indications for CMR and CCT exams when sedation or narcosis is needed.

Study protocol: optical coherence tomography angiography for the detection of neovascular age-related macular degeneration: a comprehensive multicentre diagnostic accuracy study in the UK—the ATHENA study

IntroductionThe diagnosis of neovascular age-related macular degeneration (nAMD), the leading cause of visual impairment in the developed world, relies on the interpretation of various imaging tests of the retina. These...

Cardiac Manifestations of Lymphoma: A Review of Primary and Secondary Cardiac Lymphoma.

Primary cardiac lymphoma (PCL) is a very unique and uncommon disease presentation, with reports in the literature limited to case reports. Most often it is B-cell in origin, predominantly diffuse large B-cell lymphoma. Symptomatic presentation of PCL depends on the location of anatomic involvement, but most often involves the right heart, with presentation consistent with heart failure, pericardial effusions, and atrioventricular nodal blockade. Endomyocardial biopsy is necessary for diagnosis, but cardiac magnetic resonance imaging has been the most useful for staging of the disease. The disease has a poor prognosis but treatment with chemotherapy has been the most successful approach. Particularly, the chemotherapy regimen of rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone has been reported to be successful for diffuse large B-cell lymphoma, so it is often utilized first. In newer reports of patients with PCL, there may be a role of autologous stem cell transplant along with consolidative chemotherapy in younger patients diagnosed with PCL. Secondary cardiac lymphoma (SCL) is a more common occurrence that is often asymptomatic and recognized after the patient has passed from either the primary lymphoma or some other reason. Unlike PCL, SCL is more expansive and not often confined to the right heart. However, in patients with SCL who do have cardiac symptoms, the diagnostic approach and treatment are similar to that of PCL.

Rising Importance of Proton Magnetic Resonance Spectroscopy in the Diagnosis of Selected Neurodegenerative Diseases of the Brain

Introduction: Neurodegenerative diseases pose a significant diagnostic challenge due to the increasing elderly population and the rising prevalence of these conditions. State of Knowledge: Differential diagnosis among these diseases is particularly challenging; thus, numerous clinical trials have been conducted to identify markers that could facilitate accurate disease diagnosis. Among various diagnostic approaches, imaging techniques play a crucial role, especially magnetic resonance imaging (MRI), which includes advanced modalities such as proton magnetic resonance spectroscopy (¹H-MRS). ¹H-MRS offers a non-invasive assessment of neurometabolite profiles, providing critical information that aids in precise diagnosis. Conclusions: With ongoing clinical trials, the importance of ¹H-MRS in diagnosing neurodegenerative diseases continues to grow. This paper reviews the results of recent and relevant clinical trials examining changes in ¹H-MRS in the most prevalent neurodegenerative diseases.

Congenital cytomegalovirus infection: A narrative review

Cytomegalovirus (CMV) infection poses significant health risks, particularly for vulnerable populations including fetuses infected in utero, premature infants, and immunocompromised individuals. CMV infection is the most prevalent cause of congenital infection, affecting approximately 0.5% to 2% of all live births worldwide. Congenital transmission during pregnancy is a major concern, with a variety of fetal and neonatal outcomes ranging from asymptomatic infection to severe abnormalities, including sensorineural hearing loss, visual impairment, various neurological sequelae, growth retardation and potentially fatal consequences. Congenital transmission of CMV from mother to fetus can occur through primary infection, or reactivation of a previous infection. Diagnosis involves imaging techniques and invasive procedures to detect CMV DNA. Antiviral medications have limited data for use during pregnancy, while ganciclovir or valganciclovir demonstrates potential benefits in neonates with symptomatic disease. Routine antenatal screening is not yet recommended, but serological testing may be warranted in specific circumstances. Preventive measures focus on simple hygiene practices. Childbirth and breastfeeding present potential risks of CMV transmission, highlighting the importance of close monitoring and informed decision-making. This narrative review aims to provide a comprehensive summary of the epidemiology, transmission patterns, clinical manifestations, diagnostic approaches, treatment modalities, screening methods, preventive measures, and breastfeeding considerations related to CMV infection. This knowledge is essential for healthcare professionals to effectively manage CMV infection and improve outcomes for affected individuals and their families.

Adult niemann-pick disease: A case report

Adult niemann-pick disease: A case report

Systemic iron overload: Review of pathophysiology and clinical-radiological diagnostic approach

Systemic iron overload is a condition that carries significant implications for health, making it crucial to understand its pathophysiology and the precise clinical and radiological diagnostic methods. This article comprehensively reviews the pathophysiology of iron metabolism, highlighting its crucial role in multiple cellular processes and the regulatory mechanisms that maintain its balance in the body. Furthermore, the diagnostic approach to iron overload is analyzed in detail, reviewing the role of various imaging techniques; highlighting magnetic resonance imaging as a method to develop an accurate and non-invasive assessment of iron load in various tissues.

Pulmonary embolism: Epidemiological and radiological aspects at the Niamey general reference hospital.

Introduction: Pulmonary Embolism is a diagnostic and therapeutic emergency. It is one of the clinical manifestations of venous thromboembolism (VTE) which is frequent and the most serious of the latter. The aim of our work is to study the characteristics of pulmonary embolism confirmed by chest CT angiography at the General Reference Hospital. More specifically, it is a question of describing the: epidemiological and radiological aspects of PE confirmed by chest CT angiography. Material and methods: This is a retrospective and prospective study, carried out at the Reference General Hospital over a period of 18 months: Retrospective over one (1) year from (July 2018 to June 2019), Prospective over six (6) months from July 2019 to December 2019. The study population included all patients referred to the radiology department for chest CT angiography with suspected pulmonary embolism and whose D-dimer dosage was greater than 500ng/ml. Chest x-ray and duplex ultrasound of the lower limbs were requested as additional basic examinations with the aim of exploring venous thromboembolic disease. Results: During this study, 84 chest CT angioscans were performed and 25 cases of pulmonary embolism were confirmed, representing a prevalence of 29.76%. The patients were classified according to the levels of clinical thromboembolic risk. Chest x-ray was performed in 16 patients or 64%. Cardiac Doppler ultrasound was performed in 16 patients (64%). Doppler ultrasound of the lower limbs was performed in only 3 patients. All patients had undergone chest CT angiography. Conclusion: The advent of chest CT angiography in the diagnostic approach allowed us to note an underestimation of the prevalence of PE in African countries. Thoracic CT angiography provided diagnostic confirmation.

Fascioliasis: Image Findings, Diagnosis, and Treatment

Fascioliasis is zoonotic helminthiasis caused by Fasciola hepatica or F. gigantica that is occasionally reported in South Korea. Humans can become infected through contaminated water, aquatic plants, or the consumption of raw liver. The infection typically presents with non-specific symptoms such as indigestion or fatigue, but can progress to more severe conditions like jaundice or hepatomegaly as the parasite penetrates the liver and resides in the biliary tract. Sonographically, hepatic fascioliasis appears as ill-defined, scattered hypoechoic nodules or mixed-echogenic geographic lesions, sometimes accompanied by track-like lesions. Diagnosis can be challenging without prior suspicion, as it often requires specific imaging findings or laboratory tests, including detecting eggs in stool or antibodies via Enzyme-Linked Immunosorbent Assay. The primary treatment is triclabendazole, which is highly effective in both the acute and chronic phases of the disease. This infection necessitates a cautious diagnostic and treatment approach, especially in cases without a clear history of parasitic infection, as it can be easily overlooked.

Cardiac intima sarcoma: a rapid review of case reports

Background and purpose: Cardiac intimal sarcoma (CIS) is a rare and often misdiagnosed clinical entity with notably high morbidity and mortality rates. Urgent efforts are required to comprehensively the disease and establish evidence-based management guidelines. Given the relative scarcity of data and the imperative for consensus on management strategies, this review assumes critical importance. Through a rapid review approach, we aims to synthesize and consolidate information gleaned from published case reports, thereby offering an up-to-date resource for CIS’s natural history. Methods: Utilizing inductive content analysis, we systematically searched for and synthesized case reports and series. Keywords related to CIS guided our search on Medline via Ovid, Scopus, and Web of Science from inception until March 17, 2024. Results: Our review identified 79 CIS, characterized by a mean age of 52 years, predominantly male (58%), with left-sided lesions. Approximately one-third of the patients presented with cardiovascular symptoms, and transthoracic echocardiography emerged as the preferred initial diagnostic modality in most cases. Fluorescence in situ hybridization (FISH) analysis on pre-operative tissue biopsies found murine double minute 2 (MDM2) amplification in 95% of cases tested. While surgery remained the cornerstone of treatment, recurrence occurred in 14% of cases postoperatively, with 28% succumbing to the disease despite therapeutic interventions. Conclusions: This synthesis of published case reports and series provides updated insights into the clinical profile CIS. Our findings highlight the need for increased clinical awareness, precise data collection, and further research to enhance diagnostic accuracy, treatment approaches, and patient outcomes in CIS.

Granulicatella adiacens: An uncommon pathogen in prosthetic joint infections

Granulicatella adiacens is an uncommon culprit in prosthetic joint infections, especially when predisposing factors are absent. Here, we present the case of a 78-year-old female who developed an acute surgical site infection shortly after undergoing left total knee arthroplasty. Despite initial negative cultures, subsequent analysis identified Granulicatella adiacens in the knee fluid, marking only the second reported instance in the United States and the seventh globally. This singular case highlights the considerable challenges associated with isolating this organism, emphasizing its atypical presentation and diagnostic elusiveness. Typically associated with endocarditis and bacteremia, its involvement in isolated surgical site infections is particularly unusual. Our case underscores the necessity for heightened clinical suspicion and the adoption of specialized diagnostic methodologies to accurately detect Granulicatella adiacens infections. Given its fastidious nature and nutritional requirements, standard culture methods may fail to identify this pathogen, necessitating alternative diagnostic approaches. As such, the utilization of specialized media becomes paramount in clinical diagnostics to facilitate appropriate management and optimize healthcare resource allocation. By enhancing our ability to detect and treat infections caused by Granulicatella adiacens, we can mitigate patient morbidity and reduce the burden of unnecessary interventions, thereby improving patient outcomes and healthcare efficiency.

Approach to the patient with abnormal liver biochemistry

Altered liver function tests are a common finding that requires careful interpretation and thorough correlation with the patient's clinical picture. This paper provides a systematic and practical approach to the management of patients with alterations in their liver biochemistry. The fundamental concepts of liver anatomy and physiology are reviewed, emphasizing the importance of understanding the microscopic organization of the organ and key metabolic processes. The most used liver tests, their interpretation and the patterns of alterations that may occur will be described, and the importance of a detailed anamnesis will be emphasized. Guidelines are provided for the diagnostic approach according to the pattern of alteration observed and the different patterns of transaminase elevation, from mild to moderate and severe, and their possible causes are discussed in detail. The importance of considering fatty liver disease as a frequent cause of mild and persistent transaminase elevations is highlighted, and noninvasive tools for the evaluation of liver fibrosis, such as specialized scores and markers, are mentioned. In summary, this document presents an updated and practical text for the proper interpretation of alterations in liver biochemistry, emphasizing the importance of a close correlation with the clinical context of the patient, which will allow an accurate diagnosis and appropriate management.

Detection of inflammasome activation in liver tissue during the donation process as potential biomarker for liver transplantation

Deceased donor liver transplantation (LT) is a crucial lifesaving option for patients with end-stage liver diseases. Although donation after brain death (DBD) remains the main source of donated organs, exploration of donation after circulatory death (DCD) addresses donor scarcity but introduces challenges due to warm ischemia. While technical advances have improved outcomes, challenges persist, with a 13% mortality rate within the first year. Delving into liver transplantation complexities reveals the profound impact of molecular signaling on organ fate. NOD-like receptor family pyrin domain containing 3 (NLRP3) inflammasome activation play a pivotal role, influencing inflammatory responses. The NLRP3 inflammasome, found in hepatocytes, contributes to inflammation, fibrosis, and liver cell death. This study explores these dynamics, shedding light on potential biomarkers and therapeutic targets. Samples from 36 liver transplant patients were analyzed for ASC specks detection and inflammasome-related gene expression. Liver biopsies, obtained before and after cold ischemia storage, were processed for immunofluorescence, qRT-PCR, and Western blot. One year post-LT clinical follow-up included diagnostic procedures for complications, and global survival was assessed. Immunofluorescence detected activated inflammasome complexes in fixed liver tissues. ASC specks were identified in hepatocytes, showing a trend toward more specks in DCD livers. Likewise, inflammasome-related gene expression analysis indicated higher expression in DCD livers, decreasing after cold ischemia. Similar results were found at protein level. Patients with increased ASC specks staining exhibited lower overall survival rates, correlating with IL1B expression after cold ischemia. Although preliminary, these findings offer novel insights into utilizing direct detection of inflammasome activation in liver tissue as a biomarker. They suggest its potential impact on post-transplant outcomes, potentially paving the way for improved diagnostic approaches and personalized treatment strategies in LT.

A Rare Case of Cardiac Amyloidosis Secondary to Multiple Myeloma in A Young Male Presenting with Shortness of Breath

Introduction: Multiple myeloma (MM) is a haematological malignancy associated with various systemic manifestations, including AL amyloidosis.AL amyloidosis is a systemic condition arising from abnormal protein misfolding and deposition, leading to organ dysfunction. Cardiorenal involvement is characteristic. Cardiac amyloidosis causes significant morbidity and mortality, particularly in MM patients. Case Report: A 40-year-old previously well male presented with exertional dyspnoea, lower limb swelling, and frothy urine. Clinical examination and investigations were consistent with an MM complicated by AL amyloidosis affecting the heart and kidneys. The diagnosis of amyloidosis was confirmed through renal biopsies revealing Congo red positivity, along with cardiac imaging showing typical amyloidosis findings. The presence of bone marrow plasma cells 72% confirmed myeloma. Conclusion: This case highlights the challenges in managing MM-associated AL amyloidosis with cardiac and renal involvement. It underscores the importance of comprehensive diagnostic approaches, multidisciplinary collaboration, and tailored treatment strategies. Despite the poor prognosis, diligent management can lead to favourable outcomes and improved quality of life for affected individuals.

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.

Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during follow-up, for lung function monitoring. Lysosomal storage diseases (LSDs) are a group of genetic diseases characterised by a specific lysosomal enzyme deficiency. Despite varying pathogen and organ involvement, they are linked by the pathological accumulation of exceeding substrates, leading to cellular toxicity and subsequent organ damage. Less severe forms of LSDs can manifest during childhood or later in life, sometimes being underdiagnosed. Respiratory impairment may stem from different pathogenetic mechanisms, depending on substrate storage in bones, with skeletal deformity and restrictive pattern, in bronchi, with obstructive pattern, in lung interstitium, with altered alveolar gas exchange, and in muscles, with hypotonia. This narrative review aims to outline different pulmonary clinical findings and a diagnostic approach based on key elements for differential diagnosis in some treatable LSDs like Gaucher disease, Acid Sphingomyelinase deficiency, Pompe disease and Mucopolysaccharidosis. Alongside their respiratory clinical aspects, which might overlap, we will describe radiological findings, lung functional patterns and associated symptoms to guide pediatric pulmonologists in differential diagnosis. The second part of the paper will address follow-up and management specifics. Recent evidence suggests that new therapeutic strategies play a substantial role in preventing lung involvement in early-treated patients and enhancing lung function and radiological signs in others. Timely diagnosis, driven by clinical suspicion and diagnostic workup, can help in treating LSDs effectively.

Language disorders: diagnosis and treatment in neurological practice

Language disorders resulting from cerebral stroke or other focal brain lesions, as well as from some neurodegenerative diseases (aphasia) are common in neurological practice and have a negative impact on almost all kinds of social interaction and the quality of life of patients. The aim of this work was to study and summarize the information on aphasia in the world scientific lite-rature in order to achieve a consensus among representatives of different specialties and to optimize the diagnostic and treatment strategies in patients with language disorders. We searched for publications from 2001 to 2023 on language disorders in neurological diseases, diagnosis, and treatment of aphasia in the PubMed, Clinical Key Elsevier, Cochrane Library, and Google Scholar databases. The article highlights the historical aspects of the formation of modern ideas about language disorders and considers the main clinical forms of aphasia, their relationship with the topography of brain lesions. Diagnostic approaches in speech and language disorders include assessment of speech production, speech comprehension, naming, repetition, reading and writing, in addition to pronunciation and fluency, which is performed in clinical practice by neurologists, speech and language therapists. Based on a comprehensive assessment of language functions, language impairment can be classified as one or more of the seven main clinical forms of aphasia. The main predictors of a better recovery of language functions are a milder initial severity of aphasia, an earlier initiation of treatment and an adequate scope of therapy. The basis of treatment and rehabilitation for aphasia is speech and language therapy, which can be carried out by both specialists and the patient’s family or caregivers. The role of drug treatment and non-invasive brain stimulation in improving language functions is still very limited and requires further research. Teaching patients and their family certain rules of communication taking into account present language disorders is of great importance. Future treatment strategies for aphasia are likely to consist of a combination of a behavioral approach with pharmacotherapeutic and neuromodulatory interventions.

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.

The unusual connection between Right-Sided Aortic Arch and bronchial asthma

This work describes a rare clinical case of anomalous positioning of the aortic arch in a female patient with asthma. It highlights literature suggesting that this anomaly may sometimes mimic bronchial asthma, underscoring the importance of conducting bronchodilator reversibility tests more frequently to identify underlying asthma. The patient, a woman presenting with asthma symptoms, was found to have a Right-Sided Aortic Arch (RSAA), which is an unusual finding in the absence of congenital heart disease. Given the rarity of this presentation, it underscores the need for thorough evaluation and consideration of alternative diagnoses in patients with atypical asthma symptoms. This case emphasizes the importance of comprehensive diagnostic approaches, including spirometry and bronchodilator testing, to accurately diagnose and manage patients with asthma-like symptoms associated with rare anatomical variations such as RSAA.

Diagnostic Approach to Equine Testicular Disorders.

Management of breeding stallions is crucial to equine reproduction. The longevity of the breeding career is the ultimate objective, whether the stallion is used for natural cover or for semen collection and artificial insemination. Stud farm veterinarians should be aware of the techniques used to evaluate testicular function and the diagnostic approach to testicular disorders in cases of emergency. This paper presents the clinical methods used to evaluate testicular health, including palpation, ultrasonography, biopsy, and fine-needle aspiration. The discussion of testicular disorders is broken down into four categories: congenital disorders (cryptorchidism, monorchidism, and testicular hypoplasia), differential diagnosis of scrotal enlargement, differential diagnosis of causes of progressive testicular enlargement, and differential diagnosis of testicular asymmetry or reduction in size with an emphasis on testicular degeneration. The sudden increase in testicular size is often accompanied by severe clinical signs and is a major cause for referral of stallion for surgery. Testicular disorders are illustrated with clinical cases seen by the authors.