Biomedical subjects
Publications and source records attributed to P Cerruti Mainardi.
Diagnostic pathway and 5-years follow-up of a case of childhood-form hypophosphatasia (a severe form of vitamin D resistant rickets) are described. Family study led to the identification of five affected relatives (father, sister, paternal uncle, first-cousins), two with severe clinical evidence. Inheritance pattern in this family is compatible with autosomal dominant transmission.
It has been inquired into the possibility of the resumption of breast feeding in low birth weight babies, in the 101 survivors of the 128 infants weighing less than 2000 g at birth, who were born at St. Andrea Hospital in Vercelli between 1974-82. 86% of the mothers accepted to attempt breast feeding after the separation period for intensive care and the attempt the successful in 85% of the cases (73 infants). The resumption was successful with more than 90% of the infants weighting more than 1250 g at birth and 68.6% of these infants were exclusively breast-fed. 57% of those infants weighting less than 1250 g at birth resumed breast feeding. No infant developed an infectious disease nor necrotizing enterocolitis. Almost all of the mothers succeeded in maintaining breast feeding for a mean period of 5 months and all of them considered the experience extremely positive. The study demonstrated that it is possible to resume breast feeding in low birth weight babies with suitable encouragement and care on the part of the family, the doctors and the nurses.
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Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.
The authors report two cases of spasmus nutans (a clinical syndrome peculiar to infancy the complete form of which is characterised by nystagmus, rhythmic head movements and wryneck) in two extra-EEC infants. The following elements were present in both patients: scarce exposure to light, early introduction of whole cow's milk, rachitic stigmata, dark skin, poor socio-economic conditions and rapid and complete remission of symptoms following daily exposure to sunlight. It is important to distinguish spasmus nutans, a completely benign and self-restricting disease, from potentially severe conditions which may appear with similar symptoms. It should be expected that this clinical condition will become more frequent in view of the considerable increase in the size of the non-EEC population.
Defects of the middle line are an heterogeneous group of congenital malformations due to commune pathogenetic mechanisms. We have made a case-control study about 150 newborns, who have at least 1 defect of the middle line. Results prove an excess of males between the cases, due mostly to hypospadias. We haven't found families with defects of the middle line with x-linked manner of hereditary transmission. We haven't found any particular risk present in cases and not in controls. We haven't found any case with 2 or more middle line defects.