Review

Jump to: Other

20 pages, 2979 KiB

Open AccessReview

The Role of Multimodality Imaging in Patients with Congenital Heart Disease and Infective Endocarditis

by Sara Moscatelli, Isabella Leo, Francesco Bianco, Elena Surkova, Théo Pezel, Natasha Alexandra Donald, Elizabeth Katherine Anna Triumbari, Pier Paolo Bassareo, Akshyaya Pradhan, Andrea Cimini and Marco Alfonso Perrone

Diagnostics 2023, 13(24), 3638; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13243638 - 11 Dec 2023

Viewed by 1208

Abstract

Infective endocarditis (IE) represents an important medical challenge, particularly in patients with congenital heart diseases (CHD). Its early and accurate diagnosis is crucial for effective management to improve patient outcomes. Multimodality imaging is emerging as a powerful tool in the diagnosis and management [...] Read more.

Infective endocarditis (IE) represents an important medical challenge, particularly in patients with congenital heart diseases (CHD). Its early and accurate diagnosis is crucial for effective management to improve patient outcomes. Multimodality imaging is emerging as a powerful tool in the diagnosis and management of IE in CHD patients, offering a comprehensive and integrated approach that enhances diagnostic accuracy and guides therapeutic strategies. This review illustrates the utilities of each single multimodality imaging, including transthoracic and transoesophageal echocardiography, cardiac computed tomography (CCT), cardiovascular magnetic resonance imaging (CMR), and nuclear imaging modalities, in the diagnosis of IE in CHD patients. These imaging techniques provide crucial information about valvular and intracardiac structures, vegetation size and location, abscess formation, and associated complications, helping clinicians make timely and informed decisions. However, each one does have limitations that influence its applicability. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

15 pages, 1256 KiB

Open AccessReview

Role of Iron Deficiency in Heart Failure—Clinical and Treatment Approach: An Overview

by Cristina Elena Singer, Corina Maria Vasile, Mihaela Popescu, Alin Iulian Silviu Popescu, Iulia Cristina Marginean, George Alexandru Iacob, Mihai Daniel Popescu and Cristina Maria Marginean

Diagnostics 2023, 13(2), 304; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13020304 - 13 Jan 2023

Cited by 9 | Viewed by 4437

Abstract

Background: The association of chronic heart failure (CHF) and iron deficiency (ID) with or without anemia is frequently encountered in current medical practice and has a negative prognostic impact, worsening patients’ exercise capacity and increasing hospitalization costs. Moreover, anemia is common in patients [...] Read more.

Background: The association of chronic heart failure (CHF) and iron deficiency (ID) with or without anemia is frequently encountered in current medical practice and has a negative prognostic impact, worsening patients’ exercise capacity and increasing hospitalization costs. Moreover, anemia is common in patients with chronic kidney disease (CKD) and CHF, an association known as cardio-renal anemia syndrome (CRAS) possessing a significantly increased risk of death. Aim: This review aims to provide an illustrative survey on the impact of ID in CHF patients—based on physiopathological traits, clinical features, and the correlation between functional and absolute ID with CHF—and the benefit of iron supplementation in CHF. Method: We selected the most recent publications with important scientific content covering the association of CHF and ID with or without anemia. Discussions: An intricate physiopathological interplay is described in these patients—decrease in erythropoietin levels, activation of the renin-angiotensin-aldosterone system, systemic inflammation, and increases in hepcidin levels. These mechanisms amplify anemia, CHF, and CKD severity and worsen patients’ outcomes. Conclusions: Anemia is frequently encountered in CHF and represents a negative prognostic factor. Data from randomized controlled trials have underlined the administration of intravenous iron therapy (ferric carboxymaltose) as the only viable treatment option, with beneficial effects on quality of life and exercise capacity in patients with ID and systolic heart failure. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

18 pages, 11964 KiB

Open AccessReview

Challenges in the Differential Diagnosis of COVID-19 Pneumonia: A Pictorial Review

by Cristina Maria Marginean, Mihaela Popescu, Corina Maria Vasile, Ramona Cioboata, Paul Mitrut, Iulian Alin Silviu Popescu, Viorel Biciusca, Anca Oana Docea, Radu Mitrut, Iulia Cristina Marginean, George Alexandru Iacob and Daniela Neagoe

Diagnostics 2022, 12(11), 2823; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12112823 - 16 Nov 2022

Cited by 6 | Viewed by 2302

Abstract

COVID-19 pneumonia represents a maximum medical challenge due to the virus’s high contagiousness, morbidity, and mortality and the still limited possibilities of the health systems. The literature has primarily focused on the diagnosis, clinical-radiological aspects of COVID-19 pneumonia, and the most common possible [...] Read more.

COVID-19 pneumonia represents a maximum medical challenge due to the virus’s high contagiousness, morbidity, and mortality and the still limited possibilities of the health systems. The literature has primarily focused on the diagnosis, clinical-radiological aspects of COVID-19 pneumonia, and the most common possible differential diagnoses. Still, few studies have investigated the rare differential diagnoses of COVID-19 pneumonia or its overlap with other pre-existing lung pathologies. This article presents the main radiological features of COVID-19 pneumonia and the most common alternative diagnoses to establish the vital radiological criteria for a differential diagnosis between COVID-19 pneumonia and other lung pathologies with similar imaging appearance. The differential diagnosis of COVID-19 pneumonia is challenging because there may be standard radiologic features such as ground-glass opacities, crazy paving patterns, and consolidations. A multidisciplinary approach is crucial to define a correct final diagnosis, as an overlap of COVID-19 pneumonia with pre-existing lung diseases is often possible and suggests possible differential diagnoses. An optimal evaluation of HRTC can help limit the clinical evolution of the disease, promote therapy for patients and ensure an efficient allocation of human and economic resources. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

12 pages, 6357 KiB

Open AccessReview

Electrocution Stigmas in Organ Damage: The Pathological Marks

by Gelsomina Mansueto, Mario Di Napoli, Pasquale Mascolo, Anna Carfora, Pierluca Zangani, Bruno Della Pietra and Carlo Pietro Campobasso

Diagnostics 2021, 11(4), 682; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics11040682 - 10 Apr 2021

Cited by 7 | Viewed by 6016

Abstract

Background: Diagnostic criteria for electrocution related death are still a challenge in forensic pathology and it seems that the electrical mark is the only reliable evidence. Methods: A comparison of histological and morphological findings of skin and internal organs from an autopsy series [...] Read more.

Background: Diagnostic criteria for electrocution related death are still a challenge in forensic pathology and it seems that the electrical mark is the only reliable evidence. Methods: A comparison of histological and morphological findings of skin and internal organs from an autopsy series of electrocution deaths with those mostly reported in literature as representative for electrocution. Results: The morphological changes of heart, brain and other main internal organs are still unspecific. Organ’s damage observed in electrocution deaths shows a wide variability, not reliable for a certain diagnosis of electrocution. The electrical mark is still the golden standard for diagnosis of electrocution. Conclusions: In electrocution related deaths, pathological findings of the main internal organs are not enough evidence to support with certainty a post-mortem diagnosis that a victim suffered an electrical damage. Although the organ histological changes are undoubtedly the starting point for a better understanding of the fatal even, the diagnosis of death from electrical damage is still a dark and unsolved chapter. The electrical mark still represents a fundamental indicator above all in the medical-legal field, but the identification of pathognomonic elements and signs not limited to the skin alone could be a valid help in the future, especially in unclear cases. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

Other

Jump to: Review

11 pages, 10346 KiB

Open AccessCase Report

Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy

by Hee Jung Kwon, Duk L. Na, Hee Jin Kim and Yeon-Lim Suh

Diagnostics 2023, 13(6), 1018; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13061018 - 07 Mar 2023

Cited by 1 | Viewed by 1513

Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia encompasses hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented orthochromatic leukodystrophy. We describe the clinicopathological and genetic findings of three patients with this disorder. All patients presented with dysarthria, with or without cognitive decline. The [...] Read more.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia encompasses hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented orthochromatic leukodystrophy. We describe the clinicopathological and genetic findings of three patients with this disorder. All patients presented with dysarthria, with or without cognitive decline. The first and second patients were siblings who died of the disease at ages 42 and 54, respectively, while the third patient has been bedridden. Brain magnetic resonance imaging revealed T2 hyperintensities in the subcortical and periventricular white matter. Pathological diagnosis was established by brain autopsy in cases 1 and 2, and a stereotactic brain biopsy in case 3, followed by genetic analysis of colony stimulating factor-1 receptor gene. A heterozygous c.2345G > A (p.R782H) variant was identified in the autopsy-proven cases, and a c.1765G > A (p.G589R) variant in the biopsy-proven case. Postmortem examination revealed severe white matter degeneration involving the bilateral frontoparietal lobes, but sparing the subcortical U-fibers. All cases revealed widespread loss of myelinated axons in the white matter lesions; however, axonal spheroids and pigmented macrophages were abundant in cases 1 and 3 and much less in case 2. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia should be considered in patients with presenile dementia and diffuse white matter lesions. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

14 pages, 5177 KiB

Open AccessCase Report

Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation

by Michal Hendrych, Peter Solar, Marketa Hermanova, Ondrej Slaby, Hana Valekova, Marek Vecera, Alena Kopkova, Zdenek Mackerle, Tomas Kazda, Petr Pospisil, Radek Lakomy, Jan Chrastina, Jiri Sana and Radim Jancalek

Diagnostics 2023, 13(2), 181; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics13020181 - 04 Jan 2023

Cited by 3 | Viewed by 1758

Abstract

Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman with [...] Read more.

Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman with frontal GBM with primitive neuronal component who underwent gross total resection followed by chemoradiation. Five months after surgery, the patient was diagnosed with an intraspinal GBM metastasis. Next-generation sequencing analysis of both the primary and metastatic GBM tissues was performed using the Illumina TruSight Tumor 170 assay. The number of single nucleotide variants observed in the metastatic sample was more than two times higher. Mutations in TP53, PTEN, and RB1 found in the primary and metastatic tissue samples indicated the mesenchymal molecular GBM subtype. Among others, there were two inactivating mutations (Arg1026Ile, Trp1831Ter) detected in the NF1 gene, two novel NOTCH3 variants of unknown significance predicted to be damaging (Pro1505Thr, Cys1099Tyr), one novel ARID1A variant of unknown significance (Arg1046Ser), and one gene fusion of unknown significance, EIF2B5-KIF5B, in the metastatic sample. Based on the literature evidence, the alterations of NF1, NOTCH3, and ARID1A could explain, at least in part, the acquired invasiveness and metastatic potential in this particular GBM case. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

20 pages, 5649 KiB

Open AccessSystematic Review

Pulmonary Rehabilitation in SARS-CoV-2: A Systematic Review and Meta-Analysis of Post-Acute Patients

by Glenn Reinert, Daniel Müller, Pit Wagner, Oliver Martínez-Pozas, Juan Nicolás Cuenca-Záldivar, Josué Fernández-Carnero, Eleuterio A. Sánchez Romero and Camilo Corbellini

Diagnostics 2022, 12(12), 3032; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12123032 - 02 Dec 2022

Cited by 15 | Viewed by 2568

Abstract

Background: Pulmonary Rehabilitation (PR) was initially developed for the management of Chronic Obstructive Pulmonary Disease (COPD) and is now recognized as a core management of COVID-19 patients. This systematic review and meta-analysis examined the efficacy of PR in patients with post-acute COVID-19 infection. [...] Read more.

Background: Pulmonary Rehabilitation (PR) was initially developed for the management of Chronic Obstructive Pulmonary Disease (COPD) and is now recognized as a core management of COVID-19 patients. This systematic review and meta-analysis examined the efficacy of PR in patients with post-acute COVID-19 infection. Methods: A literature search was conducted in PubMed, the Web of Science (WoS), and the Cochrane Library from their inceptions until October 2022, and randomized controlled trials and observational studies were considered. The outcomes measured included dyspnea, physical function, and quality of life. Results: Eleven studies including 677 participants with post-acute COVID-19 were included in this analysis. From a qualitative point of view and analyzing the studies separately, PR improves dyspnea, physical function, and quality of life in patients with post-acute COVID-19. However, in pooling the data of all the studies, no significant changes pre-postintervention, compared to the control, were found among the experimental studies included in the analysis in any outcome measures, due to the high heterogeneity between the studies, as well as no significant improvements being found in the observational studies. A subgroup analysis revealed significant differences in all the included outcomes. Future studies should include the same scale to assess the actual efficacy of PR. Conclusion: From a qualitative analysis point of view, PR is effective in improving physical function, reducing dyspnea, and improving quality of life in patients with post-acute COVID-19. However, an exploratory meta-analysis was performed to evaluate, by subgroups, the efficacy of PR, and positive results were found in favor of PR. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures

Figure 1

10 pages, 3434 KiB

Open AccessCase Report

Diabetic Striatopathy: Parenchymal Transcranial Sonography as a Supplement to Diagnosis at the Emergency Department

by Massimiliano Godani and Giuseppe Lanza

Diagnostics 2022, 12(11), 2838; https://0-doi-org.brum.beds.ac.uk/10.3390/diagnostics12112838 - 17 Nov 2022

Cited by 4 | Viewed by 1297

Abstract

Background: Diabetic striatopathy (DS) is a rare condition with a debated pathophysiology; a local metabolic dysfunction is the most likely hypothesis. We present a case of DS mimicking an acute stroke, outline a few uncommon/atypical features, and report for the first time [...] Read more.

Background: Diabetic striatopathy (DS) is a rare condition with a debated pathophysiology; a local metabolic dysfunction is the most likely hypothesis. We present a case of DS mimicking an acute stroke, outline a few uncommon/atypical features, and report for the first time the parenchymal transcranial sonography (pTCS) findings. Case Report: An 86-year-old man, treated for insulin-dependent diabetes, presented at an emergency department because of the occurrence of isolated choreo-athetotic movements in his left limbs with fluctuations in the location, frequency, and duration. The blood glucose level was 569 mg/dL. Both urgent and follow-up brain computed tomography (CT) were negative for recent lesions whereas pTCS revealed hyperechogenicity in the right lenticular nucleus. Subsequent magnetic resonance imaging (MRI) showed T1-weighted hyperintensity in the right putamen with negative diffusion-weighted imaging. The symptoms were responsive to glucose control and haloperidol administration, although they persisted during sleep. Conclusions: Unlike previously described cases characterized by hemichorea and/or hemiballism, our patient presented with a stroke-like onset of unilateral irregular choreo-athetotic movements. Notably, based on CT alone, it would not have been possible to distinguish DS from a stroke. In this scenario, the pTCS hyperechogenicity of the right lenticular nucleus helped to hypothesize a metabolic disorder, which was subsequently confirmed by MRI. Full article

(This article belongs to the Special Issue Advances in the Pathology of Lung, Brain, and Heart Diseases)

► Show Figures