39 research outputs found
Paratesticular Extramedullary Hematopoiesis in Children
No full textContext.—: Extramedullary hematopoiesis (EMH) is an uncommon occurrence, usually associated with hematologic disorders, but it rarely presents as an isolated finding. Objective.—: To determine the frequency, immunomorphologic features, and clinicopathologic background of EMH in orchiectomies from pediatric patients. Design.—: All orchiectomy specimens removed from children from 2008 to 2020 in our institution were retrospectively reviewed. Biopsies and neoplasias were excluded. The EMH diagnosis was rendered when hematopoietic cell precursors were present. Immunohistochemical stainings were performed to characterize the hematopoietic components. Results.—: Seventy-nine orchiectomies from 77 children (mean age, 5 years; range, 0-17 years) were included in our study. Forty-three patients (55.8%) underwent surgery for testicular atrophy, 30 (39.0%) for torsion, and 4 (5.2%) for intersex conditions. EMH was identified in 6 of 79 orchiectomies (7.6%), all performed for testicular torsion. All patients but one were newborns, and the remaining patient was 15 years old. No patient had evidence of a hematologic disorder. All EMH foci were in a background of reactive changes with a variable extension, either in the epididymis (4 cases) or in the deferens duct (2 cases). Immunostaining confirmed an association of myeloid (myeloperoxidase+) and erythroid precursors (E-cadherin+) in all 6 cases. One case also presented rare megakaryocytes, and one showed benign TdT+ B-cell precursors. Conclusions.—: To our knowledge, this is the first study that demonstrates EMH as a common finding in orchiectomy samples, especially from newborns. Despite the lack of pathologic potential, it is important to recognize EMH in order to avoid misdiagnosis
Biological Consequences and Assessment Methods Analysis of Fixed Orthodontic Appliances on Oral Epithelial Cells: A Systematic Review
No full textIntroduction: Fixed orthodontic appliances (OAs) expose the oral mucosa to mechanical traumas and metal ions throughout the whole orthodontic therapy. This review aims to understand the cytological and genetic changes consequent to fixed orthodontic therapy, their clinical implications, and how they can be assessed. Materials and Methods: A comprehensive search was conducted in PubMed (MEDLINE), Scopus, and Web of Science using MeSH terms related to cytology, DNA damage, mutagenicity, and orthodontic appliances. The PICO model and PRISMA guidelines were followed. The risk of bias was assessed using the ROBINS-I tool, and study quality was evaluated with the NHLBI Quality Assessment Tools. Two independent evaluators assessed the methodological quality of the included studies using the Joanna Briggs Institute (JBI) levels of evidence; inter-reviewer agreement was measured using Cohen's kappa coefficient (κ = 0.80). Results: Nineteen prospective and cross-sectional studies were included in the analysis. The findings suggest the presence of higher metal cellular content, as well as cytological changes, nuclear alterations, and cytotoxic and genotoxic effects. Different appliance compositions and treatment durations may influence the biological consequences. The analysis shows a tendency toward regression, especially for nuclear alterations. No dysplastic changes have been observed in any of the studies included. Conclusion: OAs cause cellular alterations, which tend to be reversible and do not seem to evolve into dysplastic changes. Future research should focus on longitudinal studies with standardized methodologies to better understand the persistence and reversibility of the changes associated with OAs, as well as exploring alternative materials that pose less risk during orthodontic treatment
Updates on Lymphovascular Invasion in Breast Cancer
No full textTraditionally, lymphovascular invasion (LVI) has represented one of the foremost pathological features of malignancy and has been associated with a worse prognosis in different cancers, including breast carcinoma. According to the most updated reporting protocols, the assessment of LVI is required in the pathology report of breast cancer surgical specimens. Importantly, strict histological criteria should be followed for LVI assessment, which nevertheless is encumbered by inconsistency in interpretation among pathologists, leading to significant interobserver variability and scarce reproducibility. Current guidelines for breast cancer indicate biological factors as the main determinants of oncological and radiation therapy, together with TNM staging and age. In clinical practice, the widespread use of genomic assays as a decision-making tool for hormone receptor-positive, HER2-negative breast cancer and the subsequent availability of a reliable prognostic predictor have likely scaled back interest in LVI’s predictive value. However, in selected cases, the presence of LVI impacts adjuvant therapy. This review summarizes current knowledge on LVI in breast cancer with regard to definition, histopathological assessment, its biological understanding, clinicopathological association, and therapeutic implications
Sudden unexpected intrapartum death and left ventricular noncompaction involving the right ventricle
No full textLeft ventricular noncompaction (LVNC), involving mainly the right ventricle, is a rare form of congenital heart disorder characterized by a developmental arrest in myocardial compaction, resulting in a spongy appearance of the myocardium, mainly of the right ventricle, rarely detected in fetuses. We report the case of a female fetus with a gestational age of 41+4 weeks who came to our attention for intrapartum sudden unexpected death, resulting in stillbirth. The ventricular walls, particularly the right ventricular wall, appeared thick, hypertrabeculated and spongy, leading to the diagnosis of LVNC involving mainly the right ventricle. The atrioventricular node and His bundle presented areas of fetal dispersion and resorptive degeneration; islands of conduction tissue were detected in the central fibrous body. Arcuate nucleus of the brainstem showed bilateral severe hypoplasia. The right bundle branch was hypoplastic. The final cause of death was an electrical conduction disfunction in an LVNC involving mainly the right ventricle. To the best of our knowledge, the herein described case is the first reported observation of sudden intrapartum death from LVNC involving mainly the right ventricle well documented post-mortem with cardiac conduction and brainstem studies. Our findings confirm the need of an accurate post-mortem examination including the study of the cardiac conduction system on serial section in every case of sudden unexpected fetal death, although there are no universally recognized guidelines
Rathke's cleft cyst associated with pituitary granulomatosis with polyangiitis : an unusual combination of hypothalamus-pituitary region pathologies
No full textThe authors present an unusual case of a patient suffering from visual deficit due to pituitary granulomatosis with polyangiitis (GPA) associated with Rathke's cleft cyst (RCC). The patient was referred to our Neurosurgery Department presenting right eye amaurosis, third cranial nerve palsy, and left temporal hemianopsia. Magnetic resonance imaging documented a sellar or suprasellar lesion with solid and cystic components. The dura mater of the skull base was also strongly enhanced. The patient underwent surgery. Histologic examination revealed RCC associated with pituitary GPA. To our knowledge, this is the first reported case of concomitant pituitary GPA and RCC. Pituitary involvement in GPA is rare, usually diagnosed in hormonal dysfunctions. The patient in case first presented optic chiasm compression, probably due to inflammation of both the pituitary gland and the previously asymptomatic RCC. We focus on the symptoms that led us to diagnose GPA pituitary involvement and on the peculiar and unusual Magnetic resonance imaging of the case presented
A Rare Cause of Juvenile Stroke: Extracranial Carotid Artery Aneurysm with Venous Complete Reconstruction of the Carotid Bifurcation
No full textExtracranial carotid artery aneurysms (ECAA) are a rare cause of embolic stroke. The underlying etiology is variable, with atherosclerosis being the most common entity in older subjects. Several treatments have been developed over the last 20 years, but the preferred method remains unknown. Notwithstanding the widespread use of endovascular techniques, surgical reconstruction by means of a bifurcated venous bypass graft should be applied in younger patients. In this way, it is possible to avoid major concerns about the development of long-term intrastent restenosis, and also to spare the external carotid artery which represents the main branch for the ipsilateral cerebral and facial perfusion. We propose ECAA resection and interposition of the inverted great saphenous vein to both the internal and external carotid artery by means the use of a tributary, i.e., the Giacomini vein
Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review
No full textPurpose: PTEN hamartoma tumor syndrome (PHTS) comprises a group of rare genetic conditions caused by germline mutations in PTEN gene and characterized by development of both benign and malignant lesions in many body tissues. In this study, we aimed to evaluate the incidence of thyroid findings in both adult and pediatric PHTS patients.MethodsA retrospectively analysis conducted in 19 (13 adult and 6 pediatric) patients with PHTS, all confirmed with genetic testing, observed from 2015 to 2021 at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico.ResultsWe found a thyroid involvement in 12 adult patients (92%): 11 patients had benign lesions (85%) and the remaining developed a follicular thyroid carcinoma (8.3%). The median age at time of the first available record was 30 years. Among benign lesions, multinodular goiter was the most observed finding (10/11, 91%). Only 1 out of 6 (16%) pediatric patients was diagnosed with a thyroid lesion (unifocal lesion in mild lymphocytic thyroiditis) at the age of 8 years.ConclusionsThyroid disorders affected nearly all adult PHTS patients, but a much lower proportion of pediatric patients. We discuss about the natural history of thyroid involvement, age of PHTS clinical onset, and optimized surveillance
