Publications by authors named "Andrea Marzullo"

Chromosomal abnormalities (CAs) are changes in the number or structure of chromosomes, manifested as alterations in the total number of chromosomes or as structural abnormalities involving the loss, duplication, or rearrangement of chromosomal segments. CAs can be inherited or can occur spontaneously, leading to congenital malformations and genetic diseases. CAs associated with cardiovascular diseases cause structural or functional alterations of the heart, affecting the cardiac chambers, valves, coronary arteries, aorta, and cardiac conduction, thus increasing the likelihood of arrhythmias, cardiac arrest, and sudden cardiac death (SCD).

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Background: Autopsy is a medical procedure that consists of the examination of the corpse to determine the cause of death and obtain information on pathological conditions or injuries. In recent years, there has been a reduction in hospital autopsies and an increase in forensic autopsies.

Aim: To evaluate the utility of autopsy in the modern age and the discrepancy between clinical and autopsy diagnoses.

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Hereditary aortopathies are a group of rare genetic diseases affecting the aorta and its major branches, and they represent a cause of sudden cardiac death. These pathologies are classified into syndromic hereditary aortopathies and non-syndromic hereditary aortopathies. The epidemiology of hereditary aortopathies varies according to the specific genetic condition involved; however, these disorders are believed to account for a significant proportion of sudden cardiac death in young individuals with a family history of inherited cardiovascular conditions.

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Article Synopsis
  • The distinction between viable and post-mortem lesions in forensic medicine is crucial, particularly in advanced decomposition cases.
  • Glycophorin A (GPA) is a key immunohistochemical marker that can identify lesion viability for up to six months, though its effectiveness diminishes after 15 days.
  • Other markers like tryptase, IL-15, and CD15 have been explored, but their results regarding decomposition remain unclear, leading to a review of their use in forensic investigations.
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  • - Amyloidosis is a group of diseases caused by misfolded proteins that form harmful deposits in tissues, potentially affecting various organs, with amyloid fibrils being particularly resistant to breakdown.
  • - The condition can result from factors like aging or genetic variations, harming organ function through disruptions in tissue structure and direct toxicity, which often leads to serious issues such as heart failure.
  • - Diagnosing cardiac amyloidosis is challenging and usually involves tissue biopsies and special staining methods, while the review highlights key forms of the disease, their treatment, and the need for a collaborative approach to care.
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  • Coronary artery vasculitis is a rare illness that mainly affects the heart's blood vessels and can happen because of conditions like Kawasaki Disease.
  • A 6-year-old boy with cancer died suddenly because of a blood clot in his heart caused by this vasculitis, likely linked to Kawasaki Disease.
  • Researchers are studying the features of Kawasaki Disease by looking at many studies from the past to learn more about how it affects people of all ages.
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Nodular fasciitis (NF) and proliferative fasciitis (PF) are benign, reactive mesenchymal neoplasms that can mimic malignancies due to their rapid growth and histological characteristics. NF typically affects the subcutaneous tissue, occasionally involving muscles and fascia, predominantly in young adults, and appears frequently in the upper extremities, trunk, and head/neck. PF, a pseudosarcomatous lesion, primarily occurs in the subcutaneous tissue of adults aged 40-70 years and is uncommon in younger populations.

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Teratomas are neoplasms arising from germ cells and encompass tissues derived from two or more embryonic germ layers, including ectoderm, mesoderm, and endoderm. These tumours typically localize along the midline or in paramedian positions and can manifest as gonadal (20%) or extragonadal (80%) entities. Although gonadal teratomas are uncommon, they represent the predominant type of gonadal tumour in the paediatric population.

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Merkel cell carcinoma (MCC) is a rare, highly aggressive, primitive neuroendocrine carcinoma of the skin, the origin of which is not yet fully understood. Numerous independent prognostic factors have been investigated in an attempt to understand which are the most important parameters to indicate in the histological diagnostic report of MCC. Of these, mast cells have only been studied in one paper before this one.

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Context.—: Mesothelioma subtyping into epithelioid and nonepithelioid categories plays a crucial role in prognosis and treatment selection, with emerging recognition of the impact of various histologic patterns.

Objective.

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Vasculitides are diseases that can affect any vessel. When cardiac or aortic involvement is present, the prognosis can worsen significantly. Pathological assessment often plays a key role in reaching a definite diagnosis of cardiac or aortic vasculitis, particularly when the clinical evidence of a systemic inflammatory disease is missing.

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Cardiac papillary fibroelastomas (CPFs) are rare benign cardiac tumors more often involving the left-sided valves and related with threatening embolic complications. We report the case of a 35-year-old woman presenting with relapsing-remitting chest pain and elevated cardiac troponins. After a negative coronary angiography, an integrated imaging assessment based on echocardiography and cardiac magnetic resonance showed a pedunculated mass on the aortic valve causing an intermittent obstructive engagement of the right coronary ostium.

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In recent years, particular interest has developed in molecular biology applied to the field of dermatopathology, with a focus on nevi of the Spitz spectrum. From 2014 onwards, an increasing number of papers have been published to classify, stratify, and correctly frame molecular alterations, including kinase fusions. In this paper, we try to synthesize the knowledge gained in this area so far.

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Lymphoepithelioma-like carcinoma of the skin (LELCS) is a rare primary skin cancer, with an annual incidence of 1/100,000 and about 85 cases published in the literature. It is considered the cutaneous counterpart of undifferentiated nasopharyngeal carcinoma (UNC, Schmincke-Regaud tumor) but has no association with EBV. We present an interesting case with features of LELCS in a 93-year-old man, right frontal-orbital region, diagnosed histologically and with immunohistochemical features.

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More than three and a half years have passed since the start of the coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and there have been several studies in the literature about the different damage and symptom patterns related to the condition; particular attention has been paid to the transmission of the disease from pregnant mothers to fetus. In this report, we present the case of a 36-year-old patient with a history of two cesarean sections (CS), two miscarriages, and hypothyroidism on replacement therapy, who contracted COVID-19 during the 15th week of gestation. Ultrasound (US) examination at 22 weeks revealed regular fetal biometry and bilateral ventriculomegaly, highly suggestive of massive intracerebral hemorrhage.

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A teratoma is a neoplasm composed of cell populations or tissues that are reminiscent, in their appearance, of normal elements derived from at least two embryonic layers. Fetal mature teratomas are normally benign, cystic, and typically occur along the midline, while they are rare in the posterior mediastinum. Teratomas are frequently solitary; however, they may sometimes be associated with other congenital anomalies and/or with chromosomal abnormalities.

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The Twin Reversed Arterial Perfusion (TRAP) Sequence is an extremely rare complication of monochorionic twin pregnancies, with one severely malformed twin (the "acardiac") lacking autonomous placental blood supply and being perfused by the co-twin (the "pump"), through arterio-arterial (and sometimes also veno-venous) vascular anastomoses located on the placental surface. The prognosis is poor: mortality is 100% in the acardiac twin because of its severe malformations and about 50-55% in the pump twin, mainly due to heart failure and prematurity. So, the goal of perinatal management of the TRAP twin pregnancy is to deliver a healthy and near-term pump twin without heart failure or fetal hydrops.

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Chronic rhinosinusitis with nasal polyps (CRSwNP) is defined as a Type 2 eosinophilic disease, while CRSsNP is considered a Type 1 neutrophilic disease. Since neutrophils are also activated in eosinophilic CRSwNP, the eosinophil-neutrophil dualism has been revaluated. Among the inflammatory cells infiltrating sinus-nasal tissues, the role of mast cells (MCs) is not already recognized, although Clinical-Cytological Grading, which defines the severity of CRSwNP, attributes to mixed eosinophil-MC forms of CRSwNP a greater risk of recurrence.

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The study of the placenta is of great importance, not only in the attempt to understand the etiopathogenesis of various maternal-fetal pathologies, but also in the attempt to understand whether it is possible to find the cause of pathological neonatal outcomes. On the other hand, abnormalities of blood vessel formation, such as angiodysplasias, have been poorly characterised in the literature, and there is a need for more studies investigating the potential impact on the fetus. In this paper, we retrospectively analysed 2063 placentas received at the Department of Pathology of the University of Bari 'Aldo Moro', among which we identified 70 placentas affected by angiodysplasia.

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The advent of vaccines represented a milestone to allow the slowing down and then containing of the exponential increase in ongoing infections and deaths of COVID-19. Since the first months of the vaccination campaign in various continents, there has been a certain number of reports of adverse events, including skin reactions. We conducted a systematic review, searching on PubMed, Web of Science, Scopus, and Cochrane Library for the words: COVID vaccine, dermatopathology, skin, eruptions, rash, cutaneous, BNT162b2 (Pfizer-BioNTech), ChAdOX1 (AstraZeneca), and mRNA-1273 (Moderna).

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Background: In recent years, great research interest has been directed to the diagnostic, therapeutic and marker role of Preferentially expressed Antigen in Melanoma (PRAME) in the setting of various human neoplasms. Although it has been extensively studied mainly in the differential diagnosis setting of melanocytic pigmented lesions, still very few papers have analyzed the usefulness or otherwise of PRAME in the context of other non-melanoma skin cancers (NMSC). (2) Methods: In this paper, we report the data of our experience of 21 cases of sebaceous carcinoma (SC) classified in the three WHO grade and collected in the period between January 2005 and 31 October 2022, on which immunostaining for PRAME was performed; Non-parametric Mann−Whitney test for non-normally distributed values was performed.

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