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Biomedical subjects

S Russo

Publications and source records attributed to S Russo.

214 records · Page 12Linked to original sources

[Limb-girdle muscular dystrophy: clinical, hereditary and histological features: study of a family (author's transl)].

The family of an "affected" subject with limb girdle dystrophy has been studied in order to assess the clinical-hereditary characteristics of the disease and to contribute to its definite genetic features (phenotypical expressiveness of the pathologic gene). The diagnosis of certitude was based on the anamnestic-clinical criteria and instrumental investigations, supported by histological and histochemical studies of the muscles. The clinical, electromyographic and biochemical data made it possible to distinguish the "affected" from the "subclinical" and the healthy subjects. The subjects that, without noticeable symptoms of neuromuscular disorders, showed a slight clinical expressiveness which didn't alter the normal social and working activities, have been defined "subclinical". The modalities of hereditary transmission of this form of muscular dystrophy are considered in the light of the genetics most present trends that are tending to overcome the dominant-recessive dualism. The possibility of a modality of transmission definable as "intermediate inheritance" is proposed. In the case of the examined family the hypothesis that a pathologic recessive autosomic gene gives rise to a clinical expressiveness in heterozygote subjects seems tenable. This situation definable as "incomplete recessive" is rarely found in the limb girdle dystrophy.

Adenosine Triphosphatases↗

Red cell glutathione in Leber's optic atrophy.

Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.

Adult↗

Flow cytometry DNA content and morphobiological characteristics in chronic and neoplastic human liver disease.

In the search for parameters that can indicate changes in the behaviour of liver tissue from normal to chronic to neoplastic disease, DNA content by FCM (ploidy and percent of 4N cells) and morphobiological characteristics were investigated in fresh liver specimens of 16 patients with normal liver, 21 with persistent hepatitis (CPH), 23 with chronic active hepatitis (CAH), 17 with cirrhosis, and 13 with hepatocellular carcinoma (HCC). Aneuploidy was mostly found in HCC specimens (54%), whereas the percentage of 4N peak decreased in chronic hepatitis and cirrhosis patients but increased to 11.09% in HCC samples (r = -0.02; p = 0.05). Finally, the binuclearity rate decreased gradually from normal to flogistic to HCC specimens. The 4N peak and the binuclearity rate were closely correlated in non-HCC (p = 0.0006, by T-test) but not in HCC samples. Only DNA ploidy and the binuclearity rate have been confirmed as being significantly and independently related to the histology of liver tissue by multivariate regression analysis.

Adult↗

[CD5 positive b-lymphocytes in autoimmunity: possible role in Graves' disease].

CD5+B cells, recently defined B-1a cells, are the main clonotype in the early B cell repertoire and persist throughout adult life. This subset is committed to the production of antibodies, defined "natural antibodies", that bind a lot of exogenous antigens, isologous and heterologous serum proteins, tissues and/or self antigens, such as hormones, nucleic acids and phospholipids. These antibodies, mostly IgM, but also IgG and IgA, are polyreactive: their role is likely that of first line of defence against invading microorganisms. Natural antibodies produced by CD5+ B cells may be involved in maintenance functions such as removal of dead cells. Because of their ability to bind self antigens, they may be important in the establishment of autoimmune phenomena. An increase of CD5+ B cells has been demonstrated in some autoimmune disorders. The authors examine the functional characteristics and the expansion of this subset in different diseases. In particular they report the increase in active Graves' disease and discuss the role of CD5+ B lymphocytes in the immune imbalance present in this thyropathy.

Autoimmune Diseases↗

[Dilated myocardiopathy and polymyositis. A clinical case and critical review of the literature].

A patient affected by a "limb-girdl syndrome" type of polymyositis shows clinical symptoms and signs of progressively worsening dilatative myocardiopathy. The diagnosis was based on well established criteria, such as the following: EF < 45-55%, left ventricular telediastolic diameter higher than 2.7 cm/mq, and normal wall thickness (L. Mestroni 1994, W.H. Abelmann 1989, et al.). The above-mentioned clinical picture was further complicated by amiodarone induced thyrotoxicosis. After the case presentation, and having exhaustively and critically revised the existing literature on polymyositis associated dilatative myocardiopathy and on eventual joint pathogenetic mechanisms, the essay in question focuses on the discussion of the clinical data brought forth in the first part.

Cardiomyopathy, Dilated↗