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18 pages, 2463 KiB  
Article
Palm-Sized Wireless Transient Elastography System with Real-Time B-Mode Ultrasound Imaging Guidance: Toward Point-of-Care Liver Fibrosis Assessment
Diagnostics 2024, 14(2), 189; https://doi.org/10.3390/diagnostics14020189 - 15 Jan 2024
Abstract
Transient elastography (TE), recommended by the WHO, is an established method for characterizing liver fibrosis via liver stiffness measurement (LSM). However, technical barriers remain towards point-of-care application, as conventional TE requires wired connections, possesses a bulky size, and lacks adequate imaging guidance for [...] Read more.
Transient elastography (TE), recommended by the WHO, is an established method for characterizing liver fibrosis via liver stiffness measurement (LSM). However, technical barriers remain towards point-of-care application, as conventional TE requires wired connections, possesses a bulky size, and lacks adequate imaging guidance for precise liver localization. In this work, we report the design, phantom validation, and clinical evaluation of a palm-sized TE system that enables simultaneous B-mode imaging and LSM. The performance of this system was validated experimentally using tissue-equivalent reference phantoms (1.45–75 kPa). Comparative studies against other liver elastography techniques, including conventional TE and two-dimensional shear wave elastography (2D-SWE), were performed to evaluate its reliability and validity in adults with various chronic liver diseases. Intra- and inter-operator reliability of LSM were established by an elastography expert and a novice. A good agreement was observed between the Young’s modulus reported by the phantom manufacturer and this system (bias: 1.1–8.6%). Among 121 patients, liver stiffness measured by this system and conventional TE were highly correlated (r = 0.975) and strongly agreed with each other (mean difference: −0.77 kPa). Inter-correlation of this system with conventional TE and 2D-SWE was observed. Excellent-to-good operator reliability was demonstrated in 60 patients (ICCs: 0.824–0.913). We demonstrated the feasibility of employing a fully integrated phased array probe for reliable and valid LSM, guided by real-time B-mode imaging of liver anatomy. This system represents the first technical advancement toward point-of-care liver fibrosis assessment. Its small footprint, along with B-mode guidance capability, improves examination efficiency and scales up screening for liver fibrosis. Full article
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12 pages, 910 KiB  
Article
Evolving Landscape of Paediatric Inflammatory Bowel Disease: Insights from a Decade-Long Study in North-East Slovenia on Incidence, Management, Diagnostic Delays, and Early Biologic Intervention
Diagnostics 2024, 14(2), 188; https://doi.org/10.3390/diagnostics14020188 - 15 Jan 2024
Viewed by 64
Abstract
Background: In the past decade, significant progress has been achieved in the care of children with inflammatory bowel disease (IBD). Our study concentrated on assessing the incidence and management of IBD in children in North-Eastern Slovenia over a 10-year period. Methods: Medical data [...] Read more.
Background: In the past decade, significant progress has been achieved in the care of children with inflammatory bowel disease (IBD). Our study concentrated on assessing the incidence and management of IBD in children in North-Eastern Slovenia over a 10-year period. Methods: Medical data from children and adolescents diagnosed with IBD in North-Eastern Slovenia (2014–2023) was analysed. Disease incidence and management of children were assessed. Findings were compared between two periods (2014–2019 and 2020–2023, coinciding with the COVID-19 pandemic). Results: 87 patients (median age 15.5 year; 50.6% male) with IBD (43.7% Crohn’s disease (CD)), diagnosed between 2014 and 2023 were included. Extraintestinal manifestations were more common in CD than ulcerative colitis (UC) (15.8% vs. 2.4%, p < 0.05). Median delay from symptom onset to diagnosis was 2 months, lower in UC than CD (NS). Mean annual IBD incidence per 100,000 children aged 0 to 19 years was 6.4 (95% CI 4.4–8.3), slightly lower for CD than UC (2.8/100,000 vs. 3.1/100,000). In the second period, IBD incidence significantly rose (9.1 vs. 4.6, p < 0.05). During this period, 53% of CD patients transitioned to biological treatment within three months of diagnosis. Conclusion: IBD incidence rose among children in North-Eastern Slovenia over the past decade. Additionally, more children with CD underwent biological therapy in the second period. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Management of Pediatric Diseases)
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14 pages, 2651 KiB  
Article
Evaluation of the Microbiome Identification of Forensically Relevant Biological Fluids: A Pilot Study
Diagnostics 2024, 14(2), 187; https://doi.org/10.3390/diagnostics14020187 - 15 Jan 2024
Viewed by 116
Abstract
In forensic sciences, body fluids, or biological traces, are a major source of information, and their identification can play a decisive role in criminal investigations. Currently, the nature of biological fluids is assessed using immunological, physico-chemical, mRNA and epigenetic methods, but these have [...] Read more.
In forensic sciences, body fluids, or biological traces, are a major source of information, and their identification can play a decisive role in criminal investigations. Currently, the nature of biological fluids is assessed using immunological, physico-chemical, mRNA and epigenetic methods, but these have limits in terms of sensitivity and specificity. The emergence of next-generation sequencing technologies offers new opportunities to identify the nature of body fluids by determining bacterial communities. The aim of this pilot study was to assess whether analysis of the bacterial communities in isolated and mixed biological fluids could reflect the situation observed in real forensics labs. Several samples commonly encountered in forensic sciences were tested from healthy volunteers: saliva, vaginal fluid, blood, semen and skin swabs. These samples were analyzed alone or in combination in a ratio of 1:1. Sequencing was performed on the Ion Gene StudioTM S5 automated sequencer. Fluids tested alone revealed a typical bacterial signature with specific bacterial orders, enabling formal identification of the fluid of interest, despite inter-individual variations. However, in biological fluid mixtures, the predominance of some bacterial microbiomes inhibited interpretation. Oral and vaginal microbiomes were clearly preponderant, and the relative abundance of their bacterial communities and/or the presence of common species between samples made it impossible to detect bacterial orders or genera from other fluids, although they were distinguishable from one another. However, using the beta diversity, salivary fluids were identified and could be distinguished from fluids in combination. While this method of fluid identification is promising, further analyses are required to consolidate the protocol and ensure reliability. Full article
(This article belongs to the Special Issue Forensic Diagnosis)
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9 pages, 776 KiB  
Article
Correlation between Time to Hyperbaric Oxygen Therapy and Delayed Neurological Sequelae in Acute Carbon Monoxide Poisoning Patients
Diagnostics 2024, 14(2), 186; https://doi.org/10.3390/diagnostics14020186 - 15 Jan 2024
Viewed by 120
Abstract
Carbon monoxide (CO) is one of the most common causes of intoxication. Delayed neurologic sequelae (DNS) have a major impact on prognosis of CO poisoning patients. Hyperbaric oxygen therapy (HBOT) is widely used to treat DNS. However, there is no consensus regarding the [...] Read more.
Carbon monoxide (CO) is one of the most common causes of intoxication. Delayed neurologic sequelae (DNS) have a major impact on prognosis of CO poisoning patients. Hyperbaric oxygen therapy (HBOT) is widely used to treat DNS. However, there is no consensus regarding the optimal timing of HBOT. This prospective study enrolled patients who visited the hospital from November 2019 to October 2022. The cutoff value for the latency to HBOT after CO exposure was determined, and the area under the receiver operating characteristic curve (AUC) was estimated. In total, 167 patients were divided into non-DNS and DNS groups. The initial Glasgow Coma Scale (GCS) score, CO exposure time, latency to HBOT after CO exposure, median length of hospital stay (p < 0.001) and creatine kinase (p = 0.016) showed significant differences. A GCS score ≤ 9 had an odds ratio (OR) of 5.059 (95% confidence interval [CI]: 1.602–15.976, p = 0.006), and latency to HBOT after CO exposure ≥ 200 min had an OR of 18.971 (95% CI: 4.310–83.508, p < 0.001). The AUC was 0.8235 (95% CI: 0.7504–0.8966). A GCS score ≤ 9 and latency to HBOT ≥ 200 min may be significant risk factors for DNS. Full article
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12 pages, 2249 KiB  
Technical Note
Automatization of CT Annotation: Combining AI Efficiency with Expert Precision
Diagnostics 2024, 14(2), 185; https://doi.org/10.3390/diagnostics14020185 - 15 Jan 2024
Viewed by 130
Abstract
The integration of artificial intelligence (AI), particularly through machine learning (ML) and deep learning (DL) algorithms, marks a transformative progression in medical imaging diagnostics. This technical note elucidates a novel methodology for semantic segmentation of the vertebral column in CT scans, exemplified by [...] Read more.
The integration of artificial intelligence (AI), particularly through machine learning (ML) and deep learning (DL) algorithms, marks a transformative progression in medical imaging diagnostics. This technical note elucidates a novel methodology for semantic segmentation of the vertebral column in CT scans, exemplified by a dataset of 250 patients from Riga East Clinical University Hospital. Our approach centers on the accurate identification and labeling of individual vertebrae, ranging from C1 to the sacrum–coccyx complex. Patient selection was meticulously conducted, ensuring demographic balance in age and sex, and excluding scans with significant vertebral abnormalities to reduce confounding variables. This strategic selection bolstered the representativeness of our sample, thereby enhancing the external validity of our findings. Our workflow streamlined the segmentation process by eliminating the need for volume stitching, aligning seamlessly with the methodology we present. By leveraging AI, we have introduced a semi-automated annotation system that enables initial data labeling even by individuals without medical expertise. This phase is complemented by thorough manual validation against established anatomical standards, significantly reducing the time traditionally required for segmentation. This dual approach not only conserves resources but also expedites project timelines. While this method significantly advances radiological data annotation, it is not devoid of challenges, such as the necessity for manual validation by anatomically skilled personnel and reliance on specialized GPU hardware. Nonetheless, our methodology represents a substantial leap forward in medical data semantic segmentation, highlighting the potential of AI-driven approaches to revolutionize clinical and research practices in radiology. Full article
(This article belongs to the Special Issue Artificial Intelligence in Radiology 2.0)
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11 pages, 5774 KiB  
Article
Motion Contrast, Phase Gradient, and Simultaneous OCT Images Assist in the Interpretation of Dark-Field Images in Eyes with Retinal Pathology
Diagnostics 2024, 14(2), 184; https://doi.org/10.3390/diagnostics14020184 - 15 Jan 2024
Viewed by 223
Abstract
The cellular-level visualization of retinal microstructures such as blood vessel wall components, not available with other imaging modalities, is provided with unprecedented details by dark-field imaging configurations; however, the interpretation of such images alone is sometimes difficult since multiple structural disturbances may be [...] Read more.
The cellular-level visualization of retinal microstructures such as blood vessel wall components, not available with other imaging modalities, is provided with unprecedented details by dark-field imaging configurations; however, the interpretation of such images alone is sometimes difficult since multiple structural disturbances may be present in the same time. Particularly in eyes with retinal pathology, microstructures may appear in high-resolution retinal images with a wide range of sizes, sharpnesses, and brightnesses. In this paper we show that motion contrast and phase gradient imaging modalities, as well as the simultaneous acquisition of depth-resolved optical coherence tomography (OCT) images, provide additional insight to help understand the retinal neural and vascular structures seen in dark-field images and may enable improved diagnostic and treatment plans. Full article
(This article belongs to the Special Issue High-Resolution Retinal Imaging: Hot Topics and Recent Developments)
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8 pages, 2878 KiB  
Interesting Images
Ultrasound Imaging of the Articularis Genus Muscle: Implications for Ultrasound-Guided Suprapatellar Recess Injection
Diagnostics 2024, 14(2), 183; https://doi.org/10.3390/diagnostics14020183 - 14 Jan 2024
Viewed by 255
Abstract
Elucidating its dynamic interaction within the knee joint, this exploration delves into the awareness regarding the articularis genus muscle for ultrasound-guided suprapatellar recess injections. While injections into the infrapatellar recess may proceed without ultrasound guidance, we highlight concerns regarding the potential cartilage injury. [...] Read more.
Elucidating its dynamic interaction within the knee joint, this exploration delves into the awareness regarding the articularis genus muscle for ultrasound-guided suprapatellar recess injections. While injections into the infrapatellar recess may proceed without ultrasound guidance, we highlight concerns regarding the potential cartilage injury. In contrast, especially with ultrasound guidance, suprapatellar recess injections significantly mitigate this risk, especially in the case of collapsed recess. Originating from the distal femur and vastus intermedius, the articularis genus muscle influences the tension of the suprapatellar recess during knee motion. Sonographically identifying this muscle involves visualizing the slender linear structure of the suprapatellar recess, with guidance on differentiation from the vastus intermedius. We provide a succinct approach to ultrasound-guided suprapatellar recess injections, emphasizing needle insertion techniques and strategies to prevent fluid accumulation. In conclusion, this study serves as a concise clinician’s guide, underscoring the significance of the articularis genus muscle’s sonoanatomy in ultrasound-guided suprapatellar recess injections. Ultimately, procedural precision and patient safety can be advanced in this aspect. Full article
(This article belongs to the Special Issue Ultrasound Imaging in Chronic Pain)
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39 pages, 4286 KiB  
Review
Radiomics and Artificial Intelligence in Radiotheranostics: A Review of Applications for Radioligands Targeting Somatostatin Receptors and Prostate-Specific Membrane Antigens
Diagnostics 2024, 14(2), 181; https://doi.org/10.3390/diagnostics14020181 - 14 Jan 2024
Viewed by 425
Abstract
Radiotheranostics refers to the pairing of radioactive imaging biomarkers with radioactive therapeutic compounds that deliver ionizing radiation. Given the introduction of very promising radiopharmaceuticals, the radiotheranostics approach is creating a novel paradigm in personalized, targeted radionuclide therapies (TRTs), also known as radiopharmaceuticals (RPTs). [...] Read more.
Radiotheranostics refers to the pairing of radioactive imaging biomarkers with radioactive therapeutic compounds that deliver ionizing radiation. Given the introduction of very promising radiopharmaceuticals, the radiotheranostics approach is creating a novel paradigm in personalized, targeted radionuclide therapies (TRTs), also known as radiopharmaceuticals (RPTs). Radiotherapeutic pairs targeting somatostatin receptors (SSTR) and prostate-specific membrane antigens (PSMA) are increasingly being used to diagnose and treat patients with metastatic neuroendocrine tumors (NETs) and prostate cancer. In parallel, radiomics and artificial intelligence (AI), as important areas in quantitative image analysis, are paving the way for significantly enhanced workflows in diagnostic and theranostic fields, from data and image processing to clinical decision support, improving patient selection, personalized treatment strategies, response prediction, and prognostication. Furthermore, AI has the potential for tremendous effectiveness in patient dosimetry which copes with complex and time-consuming tasks in the RPT workflow. The present work provides a comprehensive overview of radiomics and AI application in radiotheranostics, focusing on pairs of SSTR- or PSMA-targeting radioligands, describing the fundamental concepts and specific imaging/treatment features. Our review includes ligands radiolabeled by 68Ga, 18F, 177Lu, 64Cu, 90Y, and 225Ac. Specifically, contributions via radiomics and AI towards improved image acquisition, reconstruction, treatment response, segmentation, restaging, lesion classification, dose prediction, and estimation as well as ongoing developments and future directions are discussed. Full article
(This article belongs to the Special Issue Advanced Computer-Aided Diagnosis Using Medical Images)
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16 pages, 733 KiB  
Review
The Fluoroless Future in Electrophysiology: A State-of-the-Art Review
Diagnostics 2024, 14(2), 182; https://doi.org/10.3390/diagnostics14020182 - 14 Jan 2024
Viewed by 196
Abstract
Fluoroscopy has always been the cornerstone imaging method of interventional cardiology procedures. However, radiation exposure is linked to an increased risk of malignancies and multiorgan diseases. The medical team is even more exposed to X-rays, and a higher incidence of malignancies was reported [...] Read more.
Fluoroscopy has always been the cornerstone imaging method of interventional cardiology procedures. However, radiation exposure is linked to an increased risk of malignancies and multiorgan diseases. The medical team is even more exposed to X-rays, and a higher incidence of malignancies was reported in this professional group. In the last years, X-ray exposure has increased rapidly, involving, above all, the medical team and young patients and forcing alternative fluoroless imaging methods. In cardiac electrophysiology (EP) and pacing, the advent of 3D electroanatomic mapping systems with dedicated catheters has allowed real-time, high-density reconstruction of both heart anatomy and electrical activity, significantly reducing the use of fluoroscopy. In addition, the diffusion of intracardiac echocardiography has provided high anatomical resolution of moving cardiac structures, providing intraprocedural guidance for more complex catheter ablation procedures. These methods have largely demonstrated safety and effectiveness, allowing for a dramatic reduction in X-ray delivery in most arrhythmias’ ablations. However, some technical concerns, as well as higher costs, currently do not allow their spread out in EP labs and limit their use to only procedures that are considered highly complex and time-consuming and in young patients. In this review, we aim to update the current employment of fluoroless imaging in different EP procedures, focusing on its strengths and weaknesses. Full article
(This article belongs to the Special Issue Advances in Diagnosis and Treatment of Cardiac Arrhythmias)
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4 pages, 1322 KiB  
Interesting Images
One Fell Swoop: Septic Muscle Embolism and Central Venous Catheter Infection Imaged with [18F] Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography
Diagnostics 2024, 14(2), 180; https://doi.org/10.3390/diagnostics14020180 - 14 Jan 2024
Viewed by 171
Abstract
We describe the case of a 43-year-old female with hereditary hemochromatosis, previously without cardiac issues, who presented with a severe fever (>40 to 41 °C) to our hospital. Initial assessments, including transthoracic echocardiography, showed no typical signs of infective endocarditis. A contrast-enhanced CT [...] Read more.
We describe the case of a 43-year-old female with hereditary hemochromatosis, previously without cardiac issues, who presented with a severe fever (>40 to 41 °C) to our hospital. Initial assessments, including transthoracic echocardiography, showed no typical signs of infective endocarditis. A contrast-enhanced CT scan revealed a hypodense area in the right subscapular muscle, alongside pleural thicknesses. Due to the critical condition, a central venous catheter (CVC) was implanted for immediate intravenous treatment. Subsequent blood cultures, positive for Staphylococcus aureus, and transesophageal echocardiography led to a diagnosis of multivalvular infective endocarditis (MIE). Subsequently, the patient underwent positron emission tomography/computed tomography (PET/CT) with [18F]Fluorodeoxyglucose ([18F]FDG), which detected increased tracer incorporation in the muscle lesion, CVC, and pleural thicknesses. The final diagnosis was CVC infection and septic embolism to the subscapular muscle in a patient with pleuritis. This case showcases the critical role of [18F]FDG PET/CT as whole-body imaging modality in diagnosing and managing complex infective cases. Full article
(This article belongs to the Special Issue Unusual Cases in Nuclear Medicine)
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15 pages, 10824 KiB  
Review
Lung Ultrasound and Pleural Artifacts: A Pictorial Review
Diagnostics 2024, 14(2), 179; https://doi.org/10.3390/diagnostics14020179 - 13 Jan 2024
Viewed by 289
Abstract
Lung ultrasound is a well-established diagnostic approach used in detecting pathological changes near the pleura of the lung. At the acoustic boundary of the lung surface, it is necessary to differentiate between the primary visualization of pleural parenchymal pathologies and the appearance of [...] Read more.
Lung ultrasound is a well-established diagnostic approach used in detecting pathological changes near the pleura of the lung. At the acoustic boundary of the lung surface, it is necessary to differentiate between the primary visualization of pleural parenchymal pathologies and the appearance of secondary artifacts when sound waves enter the lung or are reflected at the visceral pleura. The aims of this pictorial essay are to demonstrate the sonographic patterns of various pleural interface artifacts and to illustrate the limitations and pitfalls of the use of ultrasound findings in diagnosing any underlying pathology. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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15 pages, 663 KiB  
Article
Hemostatic Profile of Intrauterine Growth-Restricted Neonates: Assessment with the Use of NATEM Assay in Cord Blood Samples
Diagnostics 2024, 14(2), 178; https://doi.org/10.3390/diagnostics14020178 - 13 Jan 2024
Viewed by 179
Abstract
Background: Intrauterine growth restriction (IUGR) is associated with hemorrhagic and thrombotic complications during the perinatal period. Thrombocytopenia, platelet dysfunction, and prolonged standard coagulation tests are observed in this population. The aim of this study is to examine the hemostatic profile of IUGR neonates [...] Read more.
Background: Intrauterine growth restriction (IUGR) is associated with hemorrhagic and thrombotic complications during the perinatal period. Thrombocytopenia, platelet dysfunction, and prolonged standard coagulation tests are observed in this population. The aim of this study is to examine the hemostatic profile of IUGR neonates with the use of a non-activated assay (NATEM) in cord blood samples. Methods: During an 18 month period, a NATEM ROTEM assay was performed on cord blood samples of 101 IUGR neonates. A total of 189 appropriate for gestational age (AGA) neonates were used as a control group. The NATEM variables recorded include the following: clotting time (CT); clot formation time (CFT); clot amplitude at 5, 10, and 20 min (A5, A10, A20); α-angle (a°); maximum clot firmness (MCF); lysis index at 30 and 60 min (LI30, LI60); and maximum clot elasticity (MCE). Results: IUGR neonates demonstrate a hypocoagulable state, with lower A5, A10, A2, MCF, and MCE values when compared to AGA. Using multiple linear regression, we determined IUGR as an independent factor influencing all NATEM parameters (except CT and LI30) exhibiting a hypocoagulable and hypofibrinolytic profile. Platelet count was positively correlated with A5, A10, A20, MCF, alpha angle, and MCE, and negatively correlated with CFT. Conclusion: IUGR neonates appear with lower clot strength and elasticity and prolonged clot kinetics, as illustrated by ROTEM variables. Full article
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12 pages, 1517 KiB  
Article
IP-10 for the Diagnosis and Treatment Monitoring of Tuberculosis in Children
Diagnostics 2024, 14(2), 177; https://doi.org/10.3390/diagnostics14020177 - 13 Jan 2024
Viewed by 161
Abstract
Purpose: To determine the utility of interferon-gamma-inducible protein 10 (IP-10) for identifying active tuberculosis (TB) and TB infection (TBI) in children in BCG-vaccinated populations, establish its diagnostic performance characteristics, and evaluate changes in IP-10 level during anti-TB chemotherapy. Methods: Concentrations of IP-10 and [...] Read more.
Purpose: To determine the utility of interferon-gamma-inducible protein 10 (IP-10) for identifying active tuberculosis (TB) and TB infection (TBI) in children in BCG-vaccinated populations, establish its diagnostic performance characteristics, and evaluate changes in IP-10 level during anti-TB chemotherapy. Methods: Concentrations of IP-10 and IFN-γ were measured in QuantiFERON-TB Gold (QFT) supernatants in children with suspected TB or due to recent TB contact. A total of 225 children were investigated: 33 with active TB, 48 with TBI, 83 TB contacts, 20 with suspected TB but other final diagnoses, and 41 controls. In 60 children, cytokine responses were evaluated at a follow-up visit after 2 months of anti-TB treatment. Results: IP-10 expression was significantly higher in infected children (active TB and TBI cases) than in uninfected individuals. IP-10 proved effective in identifying TB infection at its optimal cut-off (>1084.5 pg/mL) but was incapable of differentiating between children with active TB and TBI. Combining IP-10 and IFN-γ increased the QFT sensitivity. IP-10 but not IFN-γ decreased significantly during anti-TB treatment in children with active TB (p = 0.003). Conclusion: IP-10 identifies TB infection and declines during anti-TB chemotherapy in children. Incorporating IP-10 into new immunodiagnostic assays could improve TB diagnosis and allow for treatment monitoring. Full article
(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)
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4 pages, 3376 KiB  
Interesting Images
Congenital Infiltrating Lipomatosis of the Face: Multimodality Assessment through CT-Scan and Magnetic Resonance Imaging
Diagnostics 2024, 14(2), 176; https://doi.org/10.3390/diagnostics14020176 - 12 Jan 2024
Viewed by 143
Abstract
Congenital infiltrating lipomatosis of the face is a rare and benign condition involving a hamartomatous proliferation of mature adipose cells. The final diagnosis derives from a combination of clinical data, histology, and imaging features and affects the treatment decision. This report describes the [...] Read more.
Congenital infiltrating lipomatosis of the face is a rare and benign condition involving a hamartomatous proliferation of mature adipose cells. The final diagnosis derives from a combination of clinical data, histology, and imaging features and affects the treatment decision. This report describes the clinical case of a young patient suffering from facial lipomatosis with particular emphasis on radiological findings detected at CT-scan and magnetic resonance imaging. Full article
(This article belongs to the Collection Interesting Images)
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14 pages, 713 KiB  
Systematic Review
Arrhythmogenic Right Ventricular Cardiomyopathy in Children: A Systematic Review
Diagnostics 2024, 14(2), 175; https://doi.org/10.3390/diagnostics14020175 - 12 Jan 2024
Viewed by 209
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic tissue. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population. We reviewed [...] Read more.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by the progressive replacement of the normal myocardium by fibroadipocytic tissue. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population. We reviewed the literature on diagnosis, risk stratification, and prognosis in the pediatric population with ARVC. In case reports which analyzed children with ARVC, the most common sign was ventricular tachycardia, frequently presenting as dizziness, syncope, or even cardiac arrest. Currently, there is no gold standard for diagnosing ARVC in children. Nevertheless, genetic analysis may provide a proper diagnosis tool for asymptomatic cases. Although risk stratification is recommended in patients with ARVC, a validated prediction model for risk stratification in children is still lacking; thus, it is a matter of further research. In consequence, even though ARVC is a relatively rare condition in children, it negatively impacts the survival and clinical outcomes of the patients. Therefore, appropriate and validated diagnostic and risk stratification tools are crucial for the early detection of children with ARVC, ensuring a prompt therapeutic intervention. Full article
(This article belongs to the Special Issue Diagnosis and Prognosis of Heart Disease)
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