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1.
Autops Case Rep ; 13: e2023434, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37292389

RESUMEN

Sclerosing Mesenteritis (SM) is a rare diagnosis, particularly in pediatric patients, and is typically non-fatal when appropriately treated. Although molecular and immunohistochemical alterations have been described, no pathognomonic signature has been identified for this entity. This report presents a case of a seven-year-old boy who suffered sudden cardiorespiratory arrest. Upon autopsy, he was found to have multicentric SM on the upper mesentery, which led to bowel wall thinning and abdominal bleeding with bacterial translocation. We performed comprehensive morphological, immunohistochemical, and molecular analyses. SM is an atypical disorder with diverse clinical manifestations, including a rare but potentially fatal course. Early diagnosis is critical, given its potential severity. To our knowledge, this is the first case report of pediatric mortality linked to SM. Our findings emphasize the importance of increased awareness and early detection of SM in pediatric patients.

2.
Int J Mol Sci ; 24(7)2023 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-37047483

RESUMEN

PTEN-induced kinase-1 (PINK1) is the initiator of the canonical mitophagy pathway. Our aim was to study the immunoexpression of PINK1 in surgical specimens from ninety patients with metastatic colorectal adenocarcinoma (CRC) to the liver (CRLM). Tissue arrays were produced, and immunohistochemical studies were analyzed by the H-Score method. The mean immunoexpression of PINK1 in normal tissues was between 40 to 100 points. In tumoral tissues, positive PINK1 immunoexpression was observed in all samples, and no differences were noted between CRCs. In CRLMs, a significant under-expression was noted for PINK1 from the rectum (71.3 ± 30.8; p < 0.042) compared to other sites. Altered PINK1 immunoexpression in CRCs, either higher than 100 points or lower than 40 points, was associated with worse overall survival (OS) (p < 0.012) due to a shorter post-metastatic survival (PMS) (p < 0.023), and it was found to be a significant independent predictor of prognosis in a multivariate model for OS and PMS (HR = 1.972, 95% CI 0.971-4.005; p = 0.022. HR = 2.023, 95% CI 1.003-4.091; p = 0.037, respectively). In conclusion, altered PINK1 immunoexpression determined in CRCs with resected CRLM predicts a worse prognosis, possibly due to the abnormal function of mitophagy.


Asunto(s)
Neoplasias Colorrectales , Neoplasias Hepáticas , Humanos , Hepatectomía , Estudios Retrospectivos , Neoplasias Hepáticas/secundario , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/cirugía , Proteínas Quinasas/genética
3.
Autops. Case Rep ; 13: e2023434, 2023. graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1439480

RESUMEN

ABSTRACT Sclerosing Mesenteritis (SM) is a rare diagnosis, particularly in pediatric patients, and is typically non-fatal when appropriately treated. Although molecular and immunohistochemical alterations have been described, no pathognomonic signature has been identified for this entity. This report presents a case of a seven-year-old boy who suffered sudden cardiorespiratory arrest. Upon autopsy, he was found to have multicentric SM on the upper mesentery, which led to bowel wall thinning and abdominal bleeding with bacterial translocation. We performed comprehensive morphological, immunohistochemical, and molecular analyses. SM is an atypical disorder with diverse clinical manifestations, including a rare but potentially fatal course. Early diagnosis is critical, given its potential severity. To our knowledge, this is the first case report of pediatric mortality linked to SM. Our findings emphasize the importance of increased awareness and early detection of SM in pediatric patients.

4.
Diagn Cytopathol ; 49(3): E137-E140, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32970371

RESUMEN

Amyloid goiter (AG) (primary or secondary) is extremely rare. An abdominal fat pad core needle biopsy (CNB) is the diagnostic gold standard for secondary amyloidosis. Although CNB is useful to detect amyloid infiltration of a specific organ, fine-needle aspiration (FNA) is proven to be the best diagnostic method for thyroid disorders. Guidelines recommend an ultrasound-guided FNA (US-FNA) whenever possible. This procedure is usually performed by various interventional specialists, including pathologists, who perform the procedure in addition to validating the adequacy of the sample. We report a rare case of AG diagnosed using US-FNA performed by a pathologist in a 39-year-old patient with systemic amyloidosis. US-FNA performed by pathologists is a proven, less-invasive, and cost-effective tool that ensures acquisition of adequate specimens and reduces nondiagnostic rates of this procedure to ensure timely cytological diagnosis.


Asunto(s)
Amiloidosis/diagnóstico , Amiloidosis/patología , Bocio/diagnóstico , Bocio/patología , Adulto , Biopsia con Aguja Fina/métodos , Humanos , Masculino , Patólogos , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patología , Ultrasonografía/métodos , Ultrasonografía Intervencional/métodos
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