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Biomedical subjects

E Montali

Publications and source records attributed to E Montali.

At least 37 records · Page 2Linked to original sources
PubMed1977

Trisomy 4p: five new observations and overview.

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.

Abnormalities, Multiple↗
PubMed1976

Familial male internal pseudohermaphroditism; report on a case.

A rare case of male internal pseudohermaphroditism is described. The patient had normal external male sexual characteristics but unilateral cryptorchidism. Three of his four brothers had also cryptorchidism and were also involuntary infertile. One of them was later operated and a uterus found intra-peritoneallu. The patient's parents were cousins and the possible importance of an inheritable defect is discussed. The patient's karyotype was normal.

Disorders of Sex Development↗
PubMedDate not supplied

Microsatellite alterations in superficial and locally advanced transitional cell carcinoma of the bladder.

Recent studies described the existence of genetic instability associated with bladder carcinogenesis. Alterations at microsatellite loci constitute a recognized tumor marker of genome instability. A series of 21 transitional cell carcinomas of the bladder (10 superficial and 11 invasive carcinomas) was analyzed for the presence of alteration in 12 microsatellite loci, in order to detect the role of microsatellite instability in genesis and progression of human bladder cancer. Our preliminary results indicate a trend to presence of microsatellite instability (MI) in invasive and undifferentiated tumors compared to superficial and differentiated forms. Eight out of 11 T2-T4 tumors presented a number of altered microsatellite >/=2 compared to one out of 10 Ta-T1 bladder carcinomas (p=0.008). Moreover, 9 out of 15 (60%) G2-G3 tumors had significantly more unstable microsatellites than those differentiated (0 out of 6) (p=0.019). Our results provide an insight into the potential usefulness of microsatellite analysis of bladder carcinoma to better understand which neoplastic forms will evolve to invasive progression and indicate that pronounced MI may be associated with more aggressive bladder carcinomas.

Aged↗