[Irregularity of the menstrual cycle in a group of 5700 university students].
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Biomedical subjects
Publications and source records attributed to E Calzolari.
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Epidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy. During the observation period, in a sample of 41 078 male newborns, 168 had hypospadias giving a prevalence at birth of 4.1 in 1000 males. Hypospadias was divided into three types: type I or mild (75.0%); type II or moderate (21.4%); and type III or severe (3.6%). Coexisting malformations were found in 8.9% of cases. The heritability coefficient was 0.669. Maternal risk factors correlated with hypospadias were found to be early age at menarche, threatened abortion, and exposure to progestins. Low birth weight and shorter gestation were also correlated with hypospadias.
The role of early diagnosis on the short-term prognosis of 55 infants with gastrointestinal tract malformations admitted to three neonatal intensive care units is reviewed. In this series antenatal diagnosis does not appear associated with better prognosis. The severity of the disorder and the association with other malformations are the most important determinants of outcome.
The results of a multicentric survey in the Emilia-Romagna area from 1978 to 1984 are given. During the first week of life, 103,484 babies were examined. Anomalies were detected in 1,914 babies, 326 of which had genitourinary malformations. There were 214 cases of hypospadias with a history of exposure to progestogens for threatened abortion, intrauterine growth retardation and early maternal menarche. Ninety-one cases of urinary tract malformations were found and in 66 babies this was the only anomaly. Until 1983 antenatal ultrasound examinations detected only 25% of urinary tract anomalies. In 1984 this figure climbed to 70%.
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We report the structural organization of a segment of the human thyroglobulin gene, located 70kb from the 3' end of the gene, containing the exons 8 and 9 starting from the 3' end. Selected probes from this region have been used for the chromosomal mapping of the thyroglobulin gene by in situ hybridization techniques. Only one site in the human haploid karyotype is labeled with the genomic DNA probes. Twenty percent of the grains are localized on the long arm of chromosome 8, mostly in the subregion q-2-23 q-2-24 of the long arm of chromosome 8. The localization of the autoradiographic grains suggests a subregional assignment of the human thyroglobulin gene locus to 8q 2-23 or 8q 2-24.
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Glucose dehydrogenase (hexose-6-phosphate dehydrogenase) has been assayed qualitatively and quantitatively in more than 600 human placentae collected in two Italian populations. The gene frequencies for GDH1, GDH2 and GDH3 were, respectively, 0.66, 0.21 and 0.12 in Continental Italy and 0.65, 0.23 and 0.12 in Sardinia. Among the six common phenotypes there was no difference in catalytic activity.
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