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L Cugola

Publications and source records attributed to L Cugola.

At least 19 recordsLinked to original sources
PubMed1990

Segregation analysis of dominant osteogenesis imperfecta in Italy.

We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.

Adult↗
PubMed1989

Haplotype frequencies of the collagen type-I genes in the Italian population.

We have determined the frequencies of six restriction fragment length polymorphisms (RFLPs) of type-I collagen genes in a random sample of 100 subjects. Alpha 1 gene (COL1A1) DNA polymorphisms, FG2/MspI, 2FC6/RsaI, and NST70/RsaI, had polymorphism information content (PIC) values of 0.35, 0.32, and 0.26, respectively. Alpha 2 gene (COL1A2) RFLPs, NJ3/EcoRI, Hf32/RsaI, and Hf32/MspI had PIC values of 0.36, 0.35, and 0.25, respectively. The combined haplotype PIC values were 0.71 at the COL1A1 locus and 0.73 for COL1A2. Two COL1A1 and two COL1A2 RFLPs were more polymorphic than in the English population, making them better markers for the analysis of Italian families affected by osteogenesis imperfecta and some other inherited collagen diseases.

Blotting, Southern↗
PubMed1985

Synovial sarcoma: with radial nerve involvement.

An unusual case of radial nerve involvement at the elbow by a synovial sarcoma is reported. The patient was a 16-year-old Caucasian girl presenting with signs of a radial nerve palsy. Treatment was by surgical excision of the tumour and grafting the defect in the radial nerve. The histological diagnosis was a synovial sarcoma. Recovery of function was almost complete eight months later.

Adolescent↗
PubMedDate not supplied

[Osteoid osteoma of the vertebral column as a cause of scoliosis].

After reminding how difficult it is to reach the diagnosis for an osteoid osteoma of rachis, the Authors report of a patient who was put under their observation after having been treated as lumbar scoliosis and discitis for one year. As they removed the osteoid osteoma, the painful symptomatology punctually disappeared and the rachis, after few months, was in its normal order.

Child↗