Prenatal diagnosis of androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by histopathological examination. The AR gene molecular analysis performed on the fetal DNA showed the presence of a c.2493C>T change in exon 4. The single nucleotide change resulted in a Q711X amino acid substitution within the AR ligand-binding domain of the protein that has never been described before in the literature. AIS is an important consideration in pregnancies that show sex discordance in ultrasonography and karyotype results with the opportunity to perform molecular analysis of the AR gene in order to confirm the diagnosis.

Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome.

We examined the basal body temperature curves and the endocrine pattern of 20 cycles from women with Down syndrome with regular menstrual cycles. Data were compared with those obtained from an age-matched population of healthy women with regular menses. Growth hormone deficiency was excluded for women with Down syndrome by pharmacological tests. Women with Down syndrome showed a significantly higher incidence of anovulation and luteal defects than controls (p < 0.001). Overall, and in ovulatory cycles, estradiol and progesterone plasma levels were greater in controls than in women with Down syndrome. No difference was observed for gonadotropin and androgen circulating levels between the two groups. It is concluded that in women with Down syndrome with regular menses, ovulatory events were less frequent and often characterized by luteal defects. This could be ascribed to an impairment of both follicular and luteal functions. However, reproduction is possible in such patients.

Maternal renal and interlobar arteries waveforms evaluation with color Doppler ultrasound in pregnancy-induced hypertension.

The authors performed a color Doppler ultrasound examination of both renal and interlobar arteries of 15 pregnant women affected by pregnancy-induced hypertension. The pulsatility index (PI), the resistance index (RI) and the systolic/diastolic ratio (S/D) values were compared with those of 15 healthy pregnant women of the same gestational age and with those of 15 nonpregnant healthy women. The authors found a significant difference (p < 0.0001) for all parameters investigated in renal and interlobar arteries between healthy pregnant women and the other two groups. No difference was found between patients with pregnancy-induced hypertension and nonpregnant healthy women. In conclusion, color Doppler ultrasound examination of both renal and interlobar arteries seems to be important for understanding the etiopathogenesis of pregnancy-induced hypertension.

Coxsackie virus and urogenital pathology.

In 43 women (average age 49.6 years), and 70 men (average age 55.2 years) with pathology of the genito-urinary apparatus, seroantibodies to Coxsachie virus B were measured using the passive hemoagglutination method and the virus was isolated in the uterine. Viral isolation test was negative in all urine samples tested. Seropositivity for Coxsackie virus was reported in 26 women (60.46%) and in 51 men (72.85%). Positivity to B1 was 37.16% (42 cases), B2 in 38.05% (43 cases), and to B4 in 35.39% (40 cases). 17.69% (20 cases) of patients were seropositive to only one serotype, 17.69% (20 cases) to 5 serotypes, 14.15% (16 cases) to 3 serotypes, 9.73% (11 cases) to 2 serotypes, and 8.84% (10 cases) to 4 serotypes. B1, 2, 3, 4, 5 (25.97%; 20 cases) and B2, 3, 4, 5 (7.79%; 6 cases) were the most frequent associations. Seropositivity to Coxsackie virus was reported in 100% of patients (4 cases) with urethral caruncola, in 84.21% (16 cases out of 19) with cancer of the bladder, in 81.81% with cystitis (9 cases out of 11) and in 80% with prostatitis (8 out of 10 cases). In relation to sex, seropositivity was higher in males in cases of calculosis (75%; 9 cases out of 12 against 28.57%; 2 cases out of 7) and in cystitis (100%; 6 cases against 60%; 3 cases out of 5). Further studies are necessary to determine the clinical significance of serum Coxsackie virus antibodies in patients with urological pathology in the absence of urinary elimination of Coxsackie virus.

[Human infestations by Trichostrongylus axei, T. capricola and T. vitrinus: 1st report in Italy]. / Infestazioni umane da Trichostrongylus axei, T. capricola e T. vitrinus: prima segnalazione in Italia.

The authors refer the first report in Italy of human infection with Trichostrongylus axei and Trichostrongylus vitrinus. Further studies are in progress on 68 male specimens identified as belonging to Trichostrongylus capricola group.

[Sensitivity in vitro of 61 strains of Salmonella to aminoglycoside antibiotics and to cephalosporins]. / Sensibilità "in vitro" di 61 ceppi di Salmonella agli antibiotici aminoglicosidici ed alle cefalosporine.

The in vitro susceptibility of 61 strains of Salmonella from pathological specimens was tested by an agar dilution technique to four aminoglycoside and to seven cephalosporin antibiotics. Aminoglycosides were effective against these isolates. Ten strains of Salmonella wien were found resistant to cephapirine, cefazolin, cephaloridine, cephalotin, but susceptible to cepharidine and expecially to cefuroxim.