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Biomedical subjects

F G Crussi

Publications and source records attributed to F G Crussi.

10 recordsLinked to original sources

Gonadoblastoma: immunohistochemical localization of Müllerian-inhibiting substance, inhibin, WT-1, and p53.

Gonadoblastomas are rare tumors composed of both germ cells and sex-cord cells. In this study, we investigated two such tumors for the expression of the Wilms' tumor gene (WT1), which has a key role in urogenital development, and the expression of markers associated with sex-cord differentiation, i.e., Müllerian-inhibiting substance (MIS) and inhibin (I). We also studied p53 expression. Archival, paraffin-embedded tissue from two patients with gonadoblastoma, one bilateral and both with concurrent germinomatous areas, were evaluated immunohistochemically with antibodies directed against I, MIS, WT1, and p53. I was noted in the sex-cord component of the gonadoblastoma and not in germinoma cells. MIS was noted in both, although it was more strongly expressed in the sex-cord component. p53 expression was noted in the germ cells of the gonadoblastoma, as well as in the frankly germinomatous areas, whereas WT1 was found only in the sex-cord region and not at all in the germ cells of either of our two cases. These findings lead us to propose that WT1 and I are present in the initiation of gonadoblastomas, but are lost with the progression of these tumors. Similarly, MIS may be involved in its tumorigenesis. The expression of p53 seems to support the concept that gonadoblastoma represents in situ germ cell neoplasia with malignant potential. Additional studies, however, are needed to validate this concept.

Adolescent↗

Pericentric inversion (2)(p15q35) in an alveolar rhabdomyosarcoma.

We report a 7-year-old girl with a pericentric inversion of chromosome 2, inv(2)(p15q35), in a "solid variant" of alveolar rhabdomyosarcoma. The breakpoint in the long arm of chromosome 2 at band q35 is, at the cytogenetic level, identical to the breakpoint observed in the well-established reciprocal t(2;13)(q35;q14) associated with the alveolar subtype of rhabdomyosarcoma. In this case, however, no reciprocal translocation has occurred with chromosome 13 or any other chromosome, suggesting that the single critical breakpoint in alveolar rhabdomyosarcoma may be located at 2q35.

Child↗

Infantile myofibromatosis: a review of clinicopathology with perspectives on new treatment choices.

The fibromatoses are a heterogeneous group of disorders characterized by proliferation of fibroblasts. Infantile myofibromatosis is a variant that is distinctive because of its multicentric origin, appearance at birth, and cellular composition, which is predominantly myofibroblasts. We treated a patient with infantile myofibromatosis with the interesting clinical presentation of a linear lesion involving the left arm and shoulder, and aggressive hepatomegaly with jaundice secondary to fibroblastic infiltration of the common bile duct and gallbladder. Diagnosis was confirmed histologically and ultrastructurally. Excision of the cutaneous lesion was facilitated by tissue expansion of uninvolved regional tissue.

Female↗

Management of recurrent coarctation of the aorta: a new experimental technique.

A new technique is described for the management of recurrent coarctation of the aorta. It involves enlarging the narrowed segment by an onlay patch sutured to the adventitia and outer media of the aortic wall. The procedure was used in 6 mongrel dogs with preexisting surgically created coarctation. Aortic cross-clamping time ranged between 7.5 and 11 minutes (mean, 8.8 +/- 1.3 minutes). There were no operative deaths or complications. Gross and microscopic examination of the aorta 6 to 12 months (mean, 9 +/- 2.2 months) postoperatively revealed a 290 to 380% (mean, 350 +/- 30%) increase in the diameter of the repaired area and no evidence of thrombosis or pseudoaneurysm formation. The need for minimal dissection and the brief period of aortic cross-clamping make this approach an attractive alternative in the surgical treatment of patients with difficult cases of recoarctation.

Animals↗

Acute renal failure in newborn infants.

The clinical course and follow-up of 14 neonates who developed acute renal failure are reported. Renal failure in these patients was secondary to major perinatal disorders, e.g., hyaline membrane disease, pneumonia, hemorrhage, or sepsis. Thirteen patients had hypoxia and nine were in shock when renal failure developed. Five patients died during the acute stage of renal failure. Of nine survivors, five patients sustained residual renal damage.

Acute Kidney Injury↗

Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.

Three males in one family (two siblings and one maternal cousin) had an illness with cervical adenopathy, hepatosplenomegaly, and a fulminant febrile course. In the two survivors agammaglobulinemia developed. One of them became ill at the age of six months and had an Epstein-Barr-virus antibody titer of 1:10 during illness and convalescence. The white-cell count was 120,000 with 90 per cent lymphocytes, most being atypical and forming increased numbers of sheep erythrocyte rosettes. IgM was elevated, IgA normal and IgG decreased. Subsequently, all immunoglobulins were absent, and the Epstein-Barr-virus antibody titer became negative. Peripheral B-cell number remained normal, but abnormal lymph-node architecture associated with failure to respond to antigenic challenge indicated B-cell dysfunction. The pathogenesis of this entity may involve an abnormal T-cell response to transformation of B cells by Epstein-Barr virus, leading to B-cell dysfunction and agammaglobulinemia.

Agammaglobulinemia↗

Growth of rhabdomyosarcoma colonies from pleural fluid.

Pleural fluid from a child previously treated for rhabdomyosarcoma produced colonies in vitro. Cells from these colonies appeared to have the light and electron microscopic appearance of rhabdomyosarcoma cells. In this case, the malignant nature of the effusion had been suspected because of the patient's previous history; however, this technique may prove useful in the diagnosis of effusion of unknown etiology.

Animals↗

Classification of perinatal mortality.

A classification based upon pathophysiological mechanisms has been applied to perinatal mortality. The approximate relevance of each group was: fetal insufficiency 40%, respiratory failure 30%, developmental abnormality 20%, and the specific mechanisms 10%. Secondary subclassification of each category according to the maturity of the gestation emphasizes the importance of prematurity in the total perinatal mortality (66%) and the relevance of each pathophysiological mechanism in each phase of maturity. The principal mechanism in the mature group is fetal insufficiency and in the premature group, particularly between 20 and 28 weeks, it is neonatal respiratory failure. Perinatal death due to developmental abnormalities occurs most frequently in the mature infant and due to specific mechanisms in the premature infant, particularly between 29 and 36 weeks. It is suggested that greater emphasis should be placed on perinatal mortality rather than the separate consideration of stillbirth and neonatal mortality.

Congenital Abnormalities↗