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Biomedical subjects

G Audino

Publications and source records attributed to G Audino.

8 recordsLinked to original sources
PubMed1986

Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?

We describe three patients (one female and two males in a sibship of 11) with mandibuloacral dysplasia. Only eight families have been reported previously, and of these, four were of Italian origin. The phenotypic spectrum of the condition is delineated and its variability is stressed. The observation of three affected members of both sexes with normal parents supports the hypothesis of autosomal recessive inheritance. The reasons for the high frequency of the condition in Italy are discussed; a local selective advantage for heterozygotes and founder effect might be involved.

Abnormalities, Multiple↗
PubMed1984

Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family.

A family with popliteal pterygium syndrome is reported: two children presented a mild form of the syndrome, while their mother exhibited full expression of the gene. Only 11 families with 29 affected members and 25 sporadic cases have been published. This malformation syndrome is inherited in an autosomal dominant pattern, but environmental factors or genetic heterogeneity cannot be excluded in sporadic occurrences. The variability of expression is discussed and a comparison with previously published familial cases is made: minor anomalies, if present in relatives of patients with full gene expressions, are as helpful in making the diagnosis as are major abnormalities. Careful evaluation of the proband's family is essential for diagnosis and subsequent genetic counselling.

Abnormalities, Multiple↗
PubMed1978

Clinical and aortographic assessment of the complications of arterial catheterization.

Catheterization of the umbilical artery for the treatment of critically ill neonates provides a convenient method for monitoring blood gas tension and chemistry. The most important complications are thrombotic. Thirty eight aortographs were carried out in infants who underwent umbilical artery catheterization. 17/38 of the aortographs were pathological. Bacterial cultures were positive in 11/17, but only 4 coincided with pathological aortographs. Clinical signs indicating complications due to the presence of the catheter wwere observed in 10 cases. Post-mortem examination of eight subjects--three of whom had pathological aortographs--during the course of the investigation revealed only one case of thrombosis. This baby was considered to have died as a direct result of a thrombotic complication. In our experience the clinical signs of vascular complications and evaluation of the peripheral circulation in the ipsilateral leg remain the most important ways of assessing the indication for catheter-withdrawal.

Aorta, Abdominal↗
PubMed1978

Umbilical vessel catheterization; the immediate risks with the venous route.

Seven cases of heart arrest or pronounced bradycardia during 308 correct catheterizations of the umbilical vein in the first hours of life are reported. The indications for the catheterization were: 1. unsuccessful catheterization of the umbilical arteries in newborns with respiratory distress or post-asphyxia syndrome; 2. exchange transfusions for severe neonatal hyperbilirubinemia or sepsis; 3. monitoring the central vein pressure in severely compromised shocky newborns. Cardiac massage was always effective, at least temporarily, in restoring the heart activity. However, only three infants survived. Two of them had normal follow-up reported at 6 and 12 months respectively. The immediate risks and the necessary precautions for carrying out umbilical vein catheterization in severely ill newborns in the first hours of life are stressed.

Asphyxia Neonatorum↗
PubMedDate not supplied

[Roberts-SC phocomelia syndrome].

Roberts syndrome and SC phocomelia syndrome represent two malformative syndromes that, considering the presence of many common characteristics, are actually treated as one pathological entity. These syndromes have a chromosomal abnormality in common resulting from an premature centromere splitting in prometaphase. A review of salient features and a case diagnosed in the neonatal period is reported.

Bone and Bones↗