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Biomedical subjects

G Pescia

Publications and source records attributed to G Pescia.

At least 91 records · Page 5Linked to original sources
PubMed1982

Congenital neutropenia associated with phlebectasias and persistent fetal circulation.

Neutropenia with abnormal mobility of neutrophils is described in 3 related patients. All presented generalized phlebectasias; 2 had also persistent fetal circulation. One patient died at the age of 2 days from severe pulmonary hypoplasia and bilateral pneumothorax. It is speculated that the defective neutrophil mobility and the vascular abnormalities could be due to a common, genetically inherited, basic defect.

Agranulocytosis↗
PubMed1981

Extra microchromosome mosaicism in amniotic cells confirmed in fetal tissues.

Mosaicism for an extra microchromosome was discovered in amniotic cell cultures of a 39-year-old woman. Using G, Q, C bands and silver staining, it was concluded that the extra chromosome was bisatellited. Parents' karyotype was normal. Parents elected for termination of the pregnancy. The presence of the extra microchromosome was confirmed in various tissues of the aborted fetus. The literature on the subject is briefly reviewed.

Adult↗
PubMed1981

Amniotic fluid testosterone in prenatal sex determination.

Nonconjugated testosterone levels were measured by radioimmunoassay in samples of amniotic fluid from 60 normal pregnant women between 15 and 32 weeks of gestation. In the male fetuses, the mean +/- SEM amniotic fluid testosterone levels(328 +/- 25 pg/ml) were significantly higher (p less than 0,001) than the concentrations found in the female fetuses (121 +/- 9 pg/ml). The ranges were from 155 to 730 and from 46 to 240 pg/ml respectively, which shows an overlap area of the values between the sexes from 155 to 240 pg/ml. The results emphasize the potential interest of amniotic testosterone in the determination of fetal sex.

Amniotic Fluid↗
PubMed1980

[Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome].

A case of atypical Turner's syndrome with unusual karyotype is reported. The chromosome complements of the patient, studied with different banding techniques, is 45,XO/46,X,dic(X)(Xqter leads to p22::p22 leads to qter). In the literature 8 similar cases have been reported. Short stature and amenorrhea are the most constant findings. The mechanisms by which the observed chromosomal "rearrangement" can be produced are briefly discussed.

Adult↗