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Biomedical subjects

A Carcassi

Publications and source records attributed to A Carcassi.

At least 37 records · Page 2Linked to original sources
PubMedDate not supplied

[Chronic polyarthritis in a patient affected by sarcoidosis and chronic HCV infection. Case report and review of the literature].

Sarcoidosis is a systemic granulomatous disease of unknown etiology that has a wide variety of clinical manifestation. Lung involvement may slowly undergo pulmonary fibrosis. Chronic sarcoid arthritis is a rare, usually non destructive arthropathy; may be a mono, oligo or polyarthritis. Knees, ankles, shoulders, wrists and small joint of the hands and feet may be involved. It can involve skin, eyes, exocrine glands such as salivary and lacrimal glands, and many other tissues. We describe the case of a 77 years old woman with a history of rhinopharyngitis with epistaxis and chronic laryngitis since youth; a dry mouth and throat, a erythematous, infiltrative skin lesion in the forehead and in the nape of the neck, a purple lesion of the left ear and nose, skin dystrophy of the hands from 30 years before. She underwent an operation for a left femoral fracture with hemotransfusion 14 years ago. Then she developed a polyarthritis of the small joints of the hands (II, III and IV right DIP, I, III, e V left DIP; III and V bilateral PIP), knees, tarsi, toes and left elbow. An HCV chronic hepatitis was discovered 6 years before. She is affected by productive cough, dysphonia, dyspnoea at rest, fever, headache and asthenia for over 5 years. Laboratory examination revealed leukopenia, HCV hepatitis with anti HCV, HCV-RNA, transaminases elevated and cryoglobulinemia. HCV may be involved in the etiopathogenesis of rheumatic diseases, lung fibrosis and may moreover contribute to the onset or progression of sarcoidosis; the possible pathogenesis is discussed.

Aged↗
PubMedDate not supplied

Urinary glycosaminoglycans in patients with systemic lupus erythematosus.

OBJECTIVE: Several investigations indicate that glycosaminoglycans (GAG) are important components of the glomerular basement membrane (GBM) and that they play a remarkable role in the control of charge-selectivity in the glomerular capillary wall. In order to evaluate the possible use of GAG as a marker of glomerular disease, we evaluated urinary GAG excretion in 37 patients with systemic lupus erythematosus (SLE) grouped by disease activity and kidney involvement and in 17 healthy controls. METHODS: GAG were isolated from urine by using ion-exchange chromatography on DEAE Sephacel. GAG composition was determined by cellulose acetate electrophoresis and expressed as relative percentages by densitometric scanning of Alcian Blue stained strips. RESULTS: Total GAG levels were significantly increased only in active extra-renal SLE patients. Qualitative analysis of urinary GAG revealed the presence of a low sulphated chondroitin sulphate-protein complex (LSC-PG), whose frequency was higher in patients compared to controls. Moreover, inactive SLE was characterized by an alteration of the chondroitin sulphate/heparan sulphate ratio. CONCLUSION: These variations suggest the presence of an abnormal permeability of the renal filter in patients without other appreciable signs of kidney alteration. Therefore, qualitative-quantitative urinary GAG analysis could represent an additional diagnostic approach.

Adolescent↗
PubMedDate not supplied

Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.

Different degrees of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency are associated with hyperuricemia, uric acid nephrolithiasis and severe gout. Up to 25-30% of HPRT deficient patients, indicated as neurological variants or HPRT-related hyperuricemia with neurological dysfunction (HRND), may develop neurological manifestation, from mild to severe; the most serious ones manifesting in the devastating Lesch-Nyhan syndrome, characterized by choreoathetosis or self-mutilation. Here we present a 30 years old male patient suffering from gout and mild psycho-motor impairment without Lesch Nyhan disease despite severe HPRT deficiency residual activity 0.02% with hypoxanthine, no activity at all with guanine as a substrate. The Curto's theory that neurologic impairment is dependent on VGPRT/VHPRT ratio is not confirmed by our observations. The finding of such a severe HPRT deficiency in a non-Lesch-Nyhan patient needs further investigation. G6PD deficiency was also referred together with beta-thalassemic trait. We have studied purine and pyridine nucleotide metabolism in the erythrocytes and discussed the literature. The bone marrow sample shows a megaloblastyc aspect.

Adult↗
PubMedDate not supplied

[Juvenile gout].

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Adenine Phosphoribosyltransferase↗