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1.
Exp Oncol ; 37(3): 227-30, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26422110

RESUMO

AIM: To describe the case of metachronous gastrointestinal stromal tumors in a proband with familial adenomatous polyposis (FAP), carrier of APC gene mutation in codon 1309. MATERIAL AND METHODS: The physical examination, genealogical analysis and molecular genetic analysis of peripheral blood in 15-years-old girl with FAP and her sister, were carried out. Macroscopic, standard histological and immunohistochemical study of surgical specimens - intraintestinal tumors of the small intestine in proband was performed. RESULTS: Extraintestinal manifestations, including congenital abnormalities of facial skeleton, typical for Gardner's syndrome, were observed in the sisters with FAP as the addition symptoms of the disease. Frameshift mutation in codon 1309 in the APC gene was detected in these patients. A rare neoplasia - metachronous gastrointestinal stromal tumor was found in proband 15 months after total colectomy for FAP. This is the third case described in the accessible medical literature. CONCLUSION: The possible role of APC gene mutation in the development of mesenchymal neoplasms is discussed. The study of stromal tumors is important for understanding of their pathogenesis that will enable to develop effective targeted therapy.


Assuntos
Polipose Adenomatosa do Colo/genética , Tumores do Estroma Gastrointestinal/diagnóstico , Genes APC , Mutação , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/terapia , Adolescente , Biomarcadores , Códon , Feminino , Síndrome de Gardner/diagnóstico , Síndrome de Gardner/genética , Tumores do Estroma Gastrointestinal/metabolismo , Tumores do Estroma Gastrointestinal/terapia , Testes Genéticos , Humanos , Imuno-Histoquímica , Linhagem , Adulto Jovem
2.
Pol J Pathol ; 49(1): 35-9, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9640973

RESUMO

Renal biopsy of 32 patients who developed renal complications after treatment with nonsteroidal anti-inflammatory drugs (NSAIDs) were studied. The treatment with NSAIDs in these cases was used for many reasons such as: headaches, toothaches, dysmenorrea, osteochondrosis, polyarthritis and acute respiratory infections. The renal function of these patients, before the treatment with NSAIDs was normal. The renal biopsies were studied by light, electron and immunofluorescence microscopy. In 32 cases treated with NSAIDs renal changes were shown. There types of morphological changes were found: focal glomerulonephritis with crescents (FGN)(5 cases), acute tubulo-interstitial diseases (ATID)(8 cases) and lipoid nephrosis with tubulo-interstitial nephritis (LN)(19 cases). FGN and ATID possibly represent a hypersensitive reaction of predominantly humoral (FGN) or cellular (ATID) mechanisms. These types of reaction are also seen to occur with the use of various drugs (most commonly with penicillin type antibiotics). LN on the other hand is rarely, if ever, seen with any drugs but NSAIDs and therefore seems to be a characteristic change for NSAIDs and possibly related to the inhibition of renal prostaglandin synthesis by NSAIDs. NSAIDs-associated renal dysfunction is mainly observed in patients of an increased use of NSAIDs with ineffective circulatory plasma volume (advanced age, cardiovascular disease, overweight and hypovolemia of various causes).


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Nefropatias/induzido quimicamente , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Pol J Pathol ; 47(1): 13-7, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-8705264

RESUMO

Renal biopsies of 43 patients who developed renal complications after treatment with antibiotics were studied. The treatment with antibiotics in these cases was used for many different reasons such as: bronchitis, bronchopneumonia, cystitis, tonsillitis, sepsis, peritonitis, gangrene of the foot and tuberculosis. The renal function of these patients, before the treatment with antibiotics was normal. The biopsies were studied by light, electron and immunofluorescence microscopy. In 43 cases treated with antibiotics renal changes were shown. Three types of morphologic changes were found: acute tubular necrosis (ATN) (13 cases), acute tubulo-interstitial diseases (ATID) (21 cases), focal glomerulonephritis with crescents (FGN) (9 cases). The renal pathologic changes were most commonly seen in patients treated with 2 groups of antibiotics: aminoglycosides (21 cases) and antibiotics of the penicillin group (15 cases). The most characteristic feature of aminoglycosides is their direct toxic effect leading to ATN. Antibiotics of the penicillin type more commonly caused an allergic reaction leading to ATID (secondary to cellular mechanisms) or FGN (secondary to a predominantly humoral mechanism). Renal changes in the use of other antibiotics were much less manifest and were usually due to a hypersensitivity reaction. Cephalosporins, if used in combination with other antibiotics can increase their nephrotoxicity.


Assuntos
Antibacterianos/efeitos adversos , Nefropatias/induzido quimicamente , Biópsia , Humanos , Nefropatias/patologia
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