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Biomedical subjects

D Duca

Publications and source records attributed to D Duca.

At least 19 recordsLinked to original sources
PubMed2000

Theoretical calculation of the vibrational spectra of cis-cis-cyclooctadienes in the vapour phase.

The theoretical infrared spectra of 1,3-cis-cis-cyclooctadiene (1,3-COD) and 1,5-cis-cis-cyclooctadiene (1,5-COD), were obtained by ab initio MO calculations at Hartree-Fock level. The results were compared with the available IR experimental spectra of 1,3- and 1,5-COD. The apparent agreement between theoretical and experimental data allows us to exploit two bands, found only in the case of the theoretical spectrum of 1,4-COD, as a tool for identifying 1,4-COD during its synthesis.

Cyclooctanes↗
PubMed1981

A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughters, all of whom shared in variable manner shortness of stature, minor vertebral and pelvic changes, dislocated hip(s), and microtia with corresponding hearing loss. The oldest daughter had coincidental Ullrich-Turner syndrome with 46, Xdel(X)(q 13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X-linked, with hemizygote lethality.

Adult↗
PubMed1981

[Craniofacial dysostosis with diaphyseal hyperplasia].

The only family known so far to have developed cranio-facial dysostose, has been the object of a new study. Since 1962, 3 new infants affected by this disease were born and another 3 died. The syndrome is characterized by an important growth deficit, small cranium with thin skull bone, a peculiar facies with marked hypoplasia of the middle portion and mandible, multiple and various teeth anomalies. The long bones are short and bent; thickening of the cortex occurred during puberty or in the post-puberal period and seems to increase with age. The mean life-span seems normal. The syndrome is transmitted in an autosomal dominant way with great penetrating force.

Adult↗
PubMed1980

Familial partial trisomy: 6q25 leads to 6qter.

A suckling baby with microcephaly, craniostenosis, downward slanting palpebral fissues, malformed ears, cerebral, cardiac and intestinal malformation, and partial 6q25 leads to 6qter trisomy is presented. The baby is the second child of a mother with balanced translocation : 46,XX,t(2;6)(q37,q25). The first child with a similar phenotype and cardiac malformation did not undergo cytogenetic investigation and died at 4 months.

Abnormalities, Multiple↗
PubMedDate not supplied

Down's syndrome. I. Cytogenetics.

A number of 107 children with clinical diagnosis of Down's syndrome have been studied. In 80% of the cases the parents have been cytogenetically investigated, too. Of these, 82.2% (88 cases) had free trisomy, 9.4% (10) had 46/47 + 21,4.7% (5 cases) had 14/21 translocation, 1 case (0.3%) had 21/21 translocation, one case translocation in inverse tandem, one case had iosochromosome 21, one case had 48.XXY + 21. These observations may be of help in establishing the prophylaxis of the syndrome, i.e.; 1. Cytogenetic investigation of all children suspect of having Down's syndrome, and in the case of translocation, of their parents as well. In the case of hereditary translocations it is recommended that the whole kinship be studied; 2. Monitoring of pregnancies of mothers over the age of 35 seems necessary.

Adult↗
PubMedDate not supplied

Down's syndrome 47, XX,+21 with agonadism.

A girl with 47, XX,+21 Down's syndrome presenting labio-scrotal fusion and clitoral hypertrophy is reported. Anatomo-pathologic examination of the patient revealed the absence of the gonads and rudimentary Fallopian tubes. Botal's orifice was also present. This association, the first to be encountered so far, seems fortuitious.

Chromosome Mapping↗
PubMedDate not supplied

Familial Down's syndrome.

Investigation of an intensely consanguinized family in which three children were born with Down's syndrome (in one of them the diagnosis was uncertain) suggests the existence of a gene that favours chromosomal non-disjunction. In the same family there were two children with multiple malformations and two with neoplasia.

Abnormalities, Multiple↗