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1.
Pediatr Med Chir ; 36(4): 93, 2014 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-25573709

RESUMO

Congenital-Infantile Fibrosarcoma (CIF) is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15)(p13:q25), which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment.


Assuntos
Fibrossarcoma/cirurgia , Obstrução Intestinal/cirurgia , Laparoscopia/métodos , Neoplasias de Tecidos Moles/cirurgia , Feminino , Fibrossarcoma/congênito , Fibrossarcoma/genética , Humanos , Íleo/patologia , Recém-Nascido , Obstrução Intestinal/etiologia , Neoplasias de Tecidos Moles/congênito , Neoplasias de Tecidos Moles/genética , Umbigo
3.
Artigo em Inglês | MEDLINE | ID: mdl-21548455

RESUMO

Patients with selective immunoglobulin (Ig) A deficiency have a 10- to 20-fold increased risk of celiac disease. In these patients, serological diagnosis of celiac disease can be difficult, since specific IgA-based assays are usually negative and IgG-specific antibody tests are insufficiently reliable. We describe a girl with selective IgA deficiency who had a troublesome diagnosis of celiac disease that was established only after an unexpected positive test result for antitransglutaminase IgA and antiendomysium IgA. Our observation indicates that IgA-based serology should not be forgotten in patients with selective IgA deficiency, since positive results for antitransglutaminase IgA, antiendomysium IgA, or both can be observed at any time during diagnostic investigations.


Assuntos
Doença Celíaca/diagnóstico , Doença Celíaca/imunologia , Deficiência de IgA/diagnóstico , Doença Celíaca/sangue , Criança , Feminino , Humanos , Deficiência de IgA/sangue , Deficiência de IgA/imunologia , Imunoglobulina A/sangue , Imunoglobulina A/imunologia , Imunoglobulina G/sangue , Imunoglobulina G/imunologia , Testes Sorológicos/métodos , Transglutaminases/imunologia
4.
Pathologica ; 101(3): 109-11, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19886543

RESUMO

Crohn's disease is a chronic inflammatory bowel disease, whose aetiology and pathogenesis are still unknown. The occurrence of epithelioid granulomas is one characteristic feature of the disease since these lesions are found in the bowel wall in 50-87% of colectomy specimens. Although granulomas are not pathognomonic, their identification is considered a relevant element for diagnosis. Cathepsin-k, a papain-like cysteine protease, is involved in bone remodelling, and has been widely used as a immunohistochemical marker for the in situ detection of osteoclasts. Interestingly, the expression of this potent protease is also significantly increased in stimulated tissue macrophages, epithelioid cells and granulomas, but is not expressed in resident tissue macrophages. In the present study, we evaluated Cathepsin-k expression as a diagnostic tool in the identification of small granulomas in Crohn's disease. Formalin-fixed and paraffin-embedded samples of 10 cases of Crohn's disease were collected from surgical ileo-colic resections followed by comparison of Cathepsin-k and CD68 immunoreactivity. Granulomas were identified in 4 of 10 cases examined in haematoxylin & eosin preparations. Cathepsin-k enabled the identification of small granulomas (with a diameter between 100 and 200 microm) in 6 of 10 cases, mainly localized within the submucosa and muscular layers. When compared to CD68, Cathepsin-k immunoreactivity was generally absent or only weakly expressed in resting tissue macrophages, thus allowing better identification of activated epithelioid cells. Based on these results, Cathepsin-k appears to be a reliable tool for the precise and rapid identification of small epithelioid granulomas in Crohn's disease.


Assuntos
Biomarcadores/análise , Catepsina K/biossíntese , Doença de Crohn/patologia , Granuloma/patologia , Doença de Crohn/metabolismo , Granuloma/metabolismo , Humanos
5.
J Perinatol ; 27(4): 247-9, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17377608

RESUMO

We report a 27-week, 850 g infant with severe Streptococcus group B sepsis and life-threatening hyperkalemia due to progressive anuria. On the fourth day of life, after he failed treatment with diuretics, salbutamol, insulin, calcium gluconate and sodium bicarbonate, he was treated with sorbitol-free Kayexalate enemas. Potassium level slowly decreased from 9.2 mmol/l to normal level along with a recovery of normal urine output. On the 11th day of life, clinical and radiological signs of a perforated necrotizing enterocolitis (NEC) occurred and the patient required surgical intestinal resection. Histologic examination of the ileum specimen revealed areas of necrosis with fibrosis and giant cell reaction to a nonpolarizable material consistent with sodium polystyrene sulfonate. Usually, Kayexalate is suspended in hyperosmolar sorbitol solutions and the elevated osmolarity seems to be responsible for hemorrhagic colitis, transmural necrosis and definitely NEC. Our case report shows that Kayexalate per se, and not necessarily suspended in sorbitol, can lead to gastrointestinal tract complications and NEC in preterm infants.


Assuntos
Resinas de Troca de Cátion/efeitos adversos , Enterocolite Necrosante/etiologia , Hiperpotassemia/tratamento farmacológico , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Poliestirenos/efeitos adversos , Enterocolite Necrosante/patologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Sepse/patologia , Infecções Estreptocócicas/complicações , Streptococcus agalactiae
6.
Eur J Pediatr Surg ; 14(1): 60-2, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15024682

RESUMO

Ectopic tissue can be histologically detected in gastric duplication cysts. The authors describe the case of a complete pancreatic ectopia in a prenatally diagnosed symptomatic gastric duplication cyst in a 6-month-old male infant. Surgical removal of the cystic formation was curative. In view of the rarity of the lesion, a full clinical and diagnostic classification of the condition proved possible only after radical surgical resection and histological examination. Immunohistochemical investigation enabled us to detect the complete pancreatic ectopia.


Assuntos
Coristoma/diagnóstico por imagem , Cistos/diagnóstico por imagem , Pâncreas , Gastropatias/diagnóstico por imagem , Coristoma/cirurgia , Cistos/cirurgia , Doenças em Gêmeos , Humanos , Lactente , Masculino , Gastropatias/cirurgia , Ultrassonografia Pré-Natal
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