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Biomedical subjects

C Lombardo

Publications and source records attributed to C Lombardo.

At least 55 records · Page 3Linked to original sources

Immunoglobulin allotypes in familial malignant melanoma.

There is some evidence that genes at loci on the lower end of chromosome 14, encoding for the immunoglobulin heavy chains allotypes (Gm), may influence susceptibility to human tumors. We examined the Gm and Km (IgK light chain) allotype distribution in a sample of 41 patients with familial malignant melanoma and in 79 healthy relatives. An increased frequency of the haplotype carrying the Gm (2) allotype, namely Gm (1, 2, 17;..;21), seemed to be peculiar to patients, since it was almost twice as frequent in them than in the healthy population and four times as frequent with respect to the healthy relatives. Our findings are in keeping with previous suggestions that in Caucasian melanoma patients genes of the immunoglobulin heavy chain constant region, or Gm-linked genes, may enhance susceptibility to malignant melanoma.

Female↗

Falsely elevated urinary level of vanillylmandelic acid induced by griseofulvin.

A 6-year-old girl with mild hepatitis was found to have an elevated urinary level of vanillylmandelic acid (VMA), but no cause for the elevation was found. The patient was receiving griseofulvin for treatment of tinea capitis, and this drug was suspected of causing a falsely elevated urinary VMA level. Four other patients receiving griseofulvin were also found to have elevated urinary VMA levels. In one patient, urinary VMA level determined by an alternate method was normal.

Child↗

First-trimester prenatal diagnosis of Sanfilippo C disease.

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: alpha-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.

Adult↗

Human leukocyte antigens (HLA) and haplotypes in familial polyposis coli (FPC).

Close correlation between HLA antigens and haplotypes and familial polyposis coli, an infrequent inherited condition which results in an early onset of colonic adenomas and carcinoma is reported. Similarity between the patients' group and their healthy relatives is recorded, both groups differing from a healthy control group (HLA B35, DR5). This haplotype cannot be considered as a marker of the disease but provides a statistical indication of a high risk of adenomas in each family affected by FPC.

Adenomatous Polyposis Coli↗

[Safety provisions for recreational flying or sport with a hang-glider].

The Act. n. 106 of 25th March 1985 had defined the specifications of the particular aircraft designed for hobby or sport flying as is the hang-glider. It has also provided for the issue, within six months, of special regulations aimed at "checking the psycho-physical fitness required in handling" such aircraft in additions to the technical knowledge and the information about traffic, safety, insurance regulations relevant to the matter. However, the patent default of the legislator causes the protection of hobby and sport practice of hang-gliding to be either wholly inadequate or ruled by ambiguous regulations. If, instead, the present law in force is referred to, it is deemed that--while waiting for the regulations provided for by n. 106 Act.--the Aereo Club of Italy may define as "agonistic" the practice of "hobby or sport flight" so that the checking of the "specific" fitness required by such sport comes into operation in compliance with the State Decree of 18th February 1982.

Accident Prevention↗

Human leukocyte antigens and sister chromatid exchanges in families with multiple adenomatosis coli.

To study human leukocyte antigens (HLA) and sister chromatid exchanges (SCE) in multiple adenomatosis coli (MAC), eight families were evaluated. Twenty-five subjects (14 affected members and 11 healthy relatives) were studied with HLA A, B, and C typing of peripheral lymphocytes and SCE count in cells that had replicated twice. The results of the present immunogenetic study, although limited to a small number of cases, suggest a correlation between HLA, SCE, and MAC. When the results of further investigations on larger series confirmed by clinical follow-up of these subjects are available, these methods might give useful information in predicting the risk of each family member to become affected by MAC and consequently develop a colorectal carcinoma.

Adenomatous Polyposis Coli↗

Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.

The variant alpha-L-fucosidase genotype, phenotypically observed as a low plasma level of alpha-L-fucosidase in healthy individuals, can modify the plasma expression of the primary genetic defect in mucolipidosis III. Three patients with clinical, radiological, and biochemical features of mucolipidosis III, had a normal plasma level of alpha-L-fucosidase activity. The thermostability curves for the plasma alpha-L-fucosidase from these patients and the plasma alpha-L-fucosidase of the parents of one of them, are discussed to support the suggestion that they are homozygous for the autosomal recessive variant alpha-L-fucosidase trait. From a practical point of view, these observations warn against the use of the plasma alpha-L-fucosidase assay as a screening test for mucolipidoses.

Female↗

[Leiomyoma of the small intestine].

A case of leiomyoma of the small bowel which growth in the mesentery is reported. After review of the late literature, the Authors prove that this tumor is rare. The clinical examination and the simptoms associated with this neoplasm are aspecific for many months, so that X-ray as well as other complementary examinations are often necessary for the diagnosis.

Humans↗

[Cooking meat in microwave ovens does not cause formation of mutagenic substances].

UNLABELLED: During the cooking process of meat, mutagenic and/or carcinogenic substances can be formed that can induce tumours of the gastro-intestinal tract or of other organs in the rat. The formation of these substances is proportionate to the cooking time, the cooking surface and the quantity of fats contained in meat. A comparison is made between beef cooked on a grid where the temperature reaches 200 degrees C, and cooked in a microwave oven (Cuocorapido Candy 500 CL, frequency 2450 Mhz) where the temperature does not exceed 100 degrees C. Mutagenic substances were extracted by the Commoner technique and mutagenic activity was assayed with the Ames test. RESULTS: no mutagenic activity was demonstrated in the extracts of meat cooked in microwave ovens, while mutagenic activity was clearly demonstrated in the extracts of meat cooked on a grid.

Animals↗

[Perforation of the small intestine caused by closed abdominal injury (review of 16 surgically treated cases)].

The cases of 16 patients undergoing surgical treatment for blunt rupture of the small bowel have been reviewed. Male sex was the most affected one, and the traffic accidents were the main cause of this lesion. A high incidence of multiple injuries was noted. Clinical features were often effective in establishing the diagnosis; when performed, peritoneal lavage was always usefull, whereas X-ray did not. Mortality rate was low, in spite of the regular attendance of associated injuries, depending upon early diagnosis and surgical treatment. Only one death is reported, due to the extend of shock, for the associated injuries.

Abdominal Injuries↗