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Biomedical subjects

V Saputo

Publications and source records attributed to V Saputo.

16 recordsLinked to original sources
PubMed1979

Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation.

Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter.

Abnormalities, Multiple↗
PubMed1979

Pulmonary alveolar microlithiasis. A case report with a discussion of differential diagnosis.

The rare disease of pulmonary alveolar microlithiasis is characterized by innumerable microscopic stones, mainly of tribasic calcium phosphate, within the pulmonary alveoli. In a 13-year-old boy an earlier radiological examination showed diffuse lung opacity. The main differential diagnoses taken into consideration were sarcoidosis, idiopathic hemosiderosis, diffuse interstitial fibrosis and alveolar proteinosis. The correct diagnosis was made after a lung biopsy which showed intra-alveolar microliths. The radiological findings are in agreement with the reports in the literature. The specific X-ray features of pulmonary alveolar microlithiasis are calcified opacities, nodules, hilifugal trabeculations and pleural striae. These radiological signs are sufficiently diagnostic to restrict lung biopsy to particularly difficult cases. The disease is resistant to all therapeutic measures.

Adolescent↗
PubMedDate not supplied

[N.B.T. - PABA screening test for exocrine pancreatic function in healthy children. Preliminary investigation in 60 normal children].

The theoretical bases of PABA test as a diagnostic screening test of exocrine pancreatic insufficiency, its mode of execution and the findings obtained in 60 healthy subjects ranging in age from 2 to 14 years are reported. Those conditions related to extra-pancreatic disorders or to other factors that may interfere with the test and reduce its reliability are also discussed.

4-Aminobenzoic Acid↗