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Biomedical subjects

U Caruso

Publications and source records attributed to U Caruso.

At least 37 records · Page 2Linked to original sources
PubMed1997

Tyrosinemia type III: diagnosis and ten-year follow-up.

Tyrosinemia type III, caused by deficiency of 4-hydroxyphenylpyruvate dioxygenase, is a rare disorder of tyrosine catabolism. Primary 4-hydroxyphenylpyruvate dioxygenase deficiency has been described in only three patients. The biochemical phenotype shows hypertyrosinemia and elevated urinary excretion of 4-hydroxyphenyl derivatives. We report the clinical and biochemical findings and the results of long-term follow-up in a new patient with this disorder presenting with severe mental retardation and neurological abnormalities. The clinical phenotype is compared with those reported in the three previously described patients.

4-Hydroxyphenylpyruvate Dioxygenase↗
PubMed1997

[Cancer in the elderly. Clinico-epidemiologic considerations].

The elderly population is rapidly increasing in Western countries. Old age indirectly represents one of the most important risk factors for the development of neoplasias. In Italy in 1991 a total of 14,572 deaths from tumours were recorded, equivalent to 27% of all deaths; of these over 66% affected individuals aged over 65 years old. In the 65-74 age bracket mortality caused by tumour is the prime cause of death in Italy and is undergoing an exponential increase over time. The most frequently found tumours and above all the cause of the greatest number of deaths in the elderly population are lung cancer, prostate cancer, breast cancer, colorectal cancer, stomach cancer. To date the only weapon that has proved efficacious in some tumours (breast, colon-rectal, prostate, melanoma) is early diagnosis through screening and adequate treatment. The elderly are an extremely heterogeneous population and it is therefore not easy to provide guidelines that are applicable to the entire population. Firstly, it is important to provide more information in order to permit effective and targeted prevention. In order to fulfil this objective, structures offering the necessary equipment and skills will have to be create; training must be provided for personnel in this type of preventive medicine; lastly, the awareness of doctors towards this type of medicine must be increased by providing the correct information.

Aged↗
PubMed1997

[Nonpalpable lesions of breast carcinoma in elderly patients].

Breast cancer is the most frequent form of tumour in women. The only weapon at our disposal to reduce the mortality rate for breast cancer is early diagnosis. A number of studies have shown, using appropriate prevention programmes, an increasing number of minimum 20-30% lesions. The probability that a non-palpable lesion is malignant increases with age, with a positivity of 37-39% is women aged over 50. Localisation using FNAB requires studies with greater statistical value so that it can be inserted in current prevention programmes, given that the percentage of false negative is > 8%. At present, excisional biopsy with bioptic tests continues to be the standard reference method for the diagnosis of non-palpable lesions; this diagnostic procedure allows the lesion to be removed in positive cases, and avoids re-operating as in the case of suspected or inadequate cytological tests.

Aged↗
PubMed1997

[The surgical therapy of prostatic tumors].

In this paper the authors review the latest international literature regarding prostate tumour surgery, comparing surgery with the so-called "wait and see" approach. Together with hormone treatment, the latter method has been used by many researchers over the past few years given the low mortality caused by this tumour in spite of the increasing number of cases diagnosed. The wait-and-see approach is now rendered controversial by improved diagnostic methods and the widespread introduction of early diagnosis programmes. The authors report a number of studies on the use of "wait-and-see" in relation to radical prostatectomy and compare the results of the two techniques in terms of morbidity, mortality and survival. They go on to describe the various types of surgical technique used and their respective pros and cons as well as the complications typical of each technique. In conclusion, the authors discuss the indications for radical prostatectomy which, if performed in selected patients, appears to be a promising therapeutic approach in terms of disease-free survival and with a low operating mortality with complications that are not impossible to resolve using appropriate treatment.

Humans↗
PubMed1996

Simple analysis of plasmalogens in erythrocytes using gas chromatography/mass spectrometry with selected-ion monitoring acquisition.

Plasmalogens are a unique class of ether-phospholipids whose role, even though not fully defined, is essential. Their biosynthesis starts in peroxisomes, therefore, plasmalogen analysis is fundamental in the study of peroxisomal disorders. The present work reports a simple method for plasmalogen determination in erythrocytes for use in the study of peroxisomal disorders in humans; the procedure is based on two other methods that have previously been reported and employs GC/MS for separation and detection.

Acetals↗
PubMed1993

The role of medical counseling in secondary prevention of cancer in the elderly.

In western countries the elderly are those who experience the major impact of cancer, as epidemiologic data clearly show. Thus, secondary prevention of cancer (SPC) in older persons deserves more attention than it has received until now. Target subjects, however, are often reluctant to enter SPC plans. The reasons range from the lack of knowledge about the importance of SPC to the underevaluation of the risk of cancer, or, even more often, to the anxiety and fear that may stem from such a clinical investigation. In this context, the intervention known as counseling finds its natural and essential role. In the paper some general considerations on the significance of medical counseling is given, with particular emphasis on its role in SPC in the elderly. The analysis herein reported points out the specific skills and methods that physicians can adopt to cope with the eventually adverse influences that may affect the participation of the elderly in SPC initiatives. However, such action should avoid any paternalistic approach and respect the patient's will and autonomy.

Age Factors↗
PubMed1993

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance.

Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.

Adolescent↗
PubMed1992

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.

We describe a patient with methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism of the Cbl-C type mutant (McKusick 277400). Our case was diagnosed within the first 2 months of life by amino acid analysis (ion-exchange chromatography) and by biochemical studies in cultured fibroblasts ([14C]propionate incorporation, methionine and serine formation). We discuss the clinical course and the biochemical evolution after 2 years of hydroxycobalamin treatment that led to an improvement in general clinical condition and neurological performance.

Amino Acids↗
PubMed1991

Determination of very-long-chain fatty acids in plasma by a simplified gas chromatographic-mass spectrometric procedure.

The concentration of very-long-chain fatty acids (VLCFA) (straight chain, more than 22 carbon atoms) in plasma or in cultured fibroblasts is one of the most important diagnostic criteria for the diagnosis of the peroxisomal disorders. A sensitive method for VLCFA assay in plasma, using small sample volume and a simplified procedure, is described. After adequate extraction and derivatization, methyl esters of VLCFA are separated, identificated and quantified by gas chromatography-mass spectrometry (GC-MS). The method is sensitive, reproducible, accurate and relatively simple. GC-MS equipment used for routine organic acid analysis can be used.

Fatty Acids↗