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Biomedical subjects

G Scarselli

Publications and source records attributed to G Scarselli.

At least 91 records · Page 5Linked to original sources
PubMed1978

Report of a case of familial male internal pseudohermaphroditism.

A rare case of male internal pseudohermaphroditism is described. The patient had normal external male sexual characteristics but unilateral cryptorchidism. Three of his brothers had also cryptorchidism. The patient's parents were cousins. The patient's karyotype was normal.

Adult↗
PubMed1976

[Gonadotropin levels and spermatogenesis in infertile patients].

165 STERILE MALE PATIENTS UNDERWENT SEMEN EXAMINATIONS AND SERUM GONADOTROPINS DOSAGE. In 47 of these patients a testicular biopsy was preformed. The results of the statistical analysis showed a significant correlation between the sperm count and the FSH in addition to a close and precise relation between the initial stages of the spermatogenesis and FSH. No correlation was found to exist in regard to the LH. The Authors finally showed their interpertation of such data, with the possibility of different prognosis in subjects having severe oligozoospermia, but with a bioptic picture which did or did not present damage at the spermatid maturation stage.

Adolescent↗
PubMedDate not supplied

Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.

Of the 37 families with TBG deficiency so far described, 31 were shown to be compatible with X chromosome linked mode of inheritance, and in 5 of the remaining 6 this mode of transmission was suspected. Difficulties in proving X chromosome linkage in some families was usually due to the inability to identify the heterozygous female carriers when affected males were only partially TBG deficient. This work describes a new family with inherited TBG deficiency which on first glance showed inconsistencies with X chromosome linked inheritance. More specifically, there was an apparent male to male transmission of the trait and the presentation in one female of low TBG, phenotypically indistinguishable from the affected males. Studies on three generations identified TBG deficiency on both the maternal and paternal branches of the family. We were thus able to prove that the affected male inherited the trait from his heterozygous mother, rather than from his father, and that the female with more severe TBG deficiency was homozygous for the trait through acquisition of a defective X chromosome from both mother and father. The latter explained her phenotype presentation indistinguishable from that in affected hemizygous males. Thus, unless proven otherwise, all inherited TBG abnormalities in man appear to be X chromosome linked. Because of the relatively common prevalence of inherited TBG defects, marriages among such individuals are expected to give rise to a progeny with an unusual phenotypic presentation. All members of the family were clinically euthyroid and affected members showed a normal TSH response to TRH.

Adolescent↗
PubMedDate not supplied

Risk factors in male infertility: a case-control study.

A case-control study was undertaken to evaluate environmental risk factors potentially involved in male infertility. One hundred twelve azoospermic or oligospermic subjects and 127 controls were interviewed, before sperm count results were available, about coffee and alcohol consumption, smoking habits, x-ray exposure, usual sitting posture, drug consumption, other nonoccupational risk factors, socioeconomic status, education level, and occupational history. An unmatched analysis was then conducted. None of the occupational risk factors appeared to be related to azoospermia or oligospermia. A high relative risk was associated with (1) occupation in the radioelectric industry, (2) nonsedentary clerical workers, (3) clerical work in the typographic industry, and (4) occupation in the textile industry, but none of these figures were statistically significant. Because of the population from which cases and controls were drawn, certain occupational risks could not be investigated in this study, e.g., exposure of agricultural workers to chemicals.

Adult↗
PubMedDate not supplied

Expression and amplification of HER-2/neu oncogene in uterine carcinosarcomas: a marker for potential molecularly targeted treatment?

Surgery is the treatment of choice for uterine carcinosarcomas; nevertheless, the poor effect of chemotherapy and radiotherapy represents an insidious problem for patients with metastatic or unresectable disease, and indeed, new therapeutic approaches are clearly required to improve survival of uterine carcinosarcoma patients. The HER-2 oncogene, located on chromosome 17, encodes for a tyrosine kinase growth factor receptor. We analyzed HER-2/neu overexpression by immunohistochemistry in 28 uterine carcinosarcomas. HER-2/neu amplification with fluorescence in situ hybridization (FISH) was tested in positive cases. The expression of HER-2/neu was correlated with disease-free interval and survival (Kaplan-Meier estimates). We observed HER-2/neu overexpression in nine cases (32.1%) and HER-2/neu amplification in all the four HER-2/neu 3+ score positive cases tested by FISH. HER-2/neu expression was not correlated with clinical outcome. Patients with disease limited to the uterus (stages I-II) displayed a significantly better disease-free survival (P= 0.004) and actuarial survival (P= 0.01). Demonstration of HER-2/neu overexpression and amplification in uterine carcinosarcoma may represent the first rationale step for further investigations. Hence, the results of this analysis may support the challenge of a new therapeutic approach, which could test the role of anti-HER-2 (trastuzumab) in patients with advanced or metastatic uterine carcinosarcoma.

Adult↗