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G Biolcati

Publications and source records attributed to G Biolcati.

17 recordsLinked to original sources
PubMed2004

Dermatological marks in athletes of artistic and rhythmic gymnastics.

The authors present dermatological signs in: a) rhythmic gymnastics athletes, b) male artistic gymnastics athletes, compared to a control group of fitness athletes. Athletes from the artistic gymnastics group were observed twice. The signs they showed on their first examination (20 days previous to the competition) were two circular zones of thickening of the skin with relation to the radial epiphysis. In all of them, two zones of frictional alopecia were present, one on the dorsal face of the forearms, slantwise outlined, the other on the wrists. A noticeable thickening of the skin was present on the palms of the hands. On a second examination, at the beginning of the training, after about two months of inactivity, the alopecic area was replaced by hypertrichosis, although featuring different patterns in each athlete. Thickening of the skin was slightly smaller than that observed at the first examination. The authors describe onychopathology shown in its different forms in 94 % of the athletes of the rhythmic group. Subsequently the authors discuss the pathogenesis of the above described signs.

Adolescent↗
PubMed2002

Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.

The porphyrias are disorders associated with inherited or acquired enzyme deficiencies in the heme biosynthetic pathway. The differential diagnosis is often difficult since the phenotype is very similar in some forms and the biochemical tests are not commonly available. Here we provide an update on the molecular diagnosis of porphyrias in Italy and a flow-chart to facilitate the identification of mutations in heme biosynthetic genes. The molecular analysis has allowed us to identify the molecular defect underlying the disease in 66 probands with different porphyrias [acute intermittent porphyria (AIP), variegate porphyria (VP), porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP)]. No Italian patients with defects in coproporphyrinogen oxidise (CPOX) gene, responsible for hereditary coproporphyria (HCP), have been detected. The molecular characterization has been extended to 115 relatives with the identification of 55 asymptomatic mutation carriers and 60 normal subjects. We have so far identified 50 different mutations among 4 genes associated with the most common porphyrias showing a high molecular heterogeneity: 22 in the hydroxymethylbilane synthase (HMBS) gene (AIP), 7 in the protoporphyrinogen oxidase (PPOX) gene (VP), 16 in the uroporphyrinogen decarboxylase (UROD) gene (PCT) and 5 in the ferrochelatase (FECH) gene (EPP). Among the 50 molecular defects, 29 seem to be restricted to the Italian population.

DNA↗
PubMed2001

Non-alcoholic steatohepatitis induced by carbamazepine and variegate porphyria.

A 42-year-old woman presented with acute bullous skin lesions and angio-oedema that had developed 3 months after initiation of treatment with carbamazepine for epilepsy. Chromatographic analysis of urinary porphyrins was compatible with variegate porphyria. This was manifested initially by neurological symptoms that were mistaken for epilepsy and later by cutaneous symptoms also. Histological findings excluded hepatic porphyria, but revealed severe fatty changes thought to be caused by idiosyncratic metabolism of carbamazepine. While the porphyrinogenicity of carbamazepine is well known, the presence of variegate porphyria has not been reported. The toxic hepatic effects of the drug on hepatic cytochrome P-450, which is involved in haem metabolism, could have aggravated the pre-existent porphyria, provoking the onset of skin lesions.

Adult↗
PubMed2000

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.

Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene. We have now identified seven mutations in eight unrelated Italian patients with AIP: two splicing defects (IVS7+2T-->C, 612G-->T), three small deletions (308-309delTG, 730-731delCT, 182delA) and two missense mutations (134C-->A, 541C-->T). The splicing defects were responsible for activation of splicing cryptic sites respectively within intron 7 (15 bp insertion) and exon 10 (9 bp deletion). The small deletions resulted in frameshifts leading to the formation of premature stop codons. The 134C-->A and 541C-->T mutations caused the formation of stop codons likely to be responsible for drastic disruption of the HMBS structure (Ser45Ter, Gln181Ter). This is the first molecular study in AIP patients of Italian origin leading to the identification of four new mutations and three molecular defects that have already been described.

Adult↗
PubMed1997

Creeping eruption of larva migrans--a case report in a beach volley athlete.

The authors describe a case of cutaneous larva migrans in a beach volley athlete. This pathology is found more often in tropical zones than in European countries. There are no previous publications with regard to this condition in athletes. The nematode responsible for this affliction often is the Ancylostoma braziliense. Larval stage of the nematode migrates through the skin; within 72 hours after larval penetration, serpiginous, elevated tunnels are observed. This affliction can be complicated by Loeffler's syndrome. In the case described only dermatological involvement was observed. The patient was treated with 400 mg albendazole tablets twice a day for five days. Within two days of therapy the patient reported less itching; a medical control after ten days did not reveal any signs of active infection.

Adult↗
PubMed1997

Iron and porphyria cutanea tarda.

In order to evaluate the pathogenetic role of iron in Porphyria cutanea tarda (PCT), the metabolism of iron was studied in 440 patient with PCT and associated chronic liver disease (CLD) and in 91 nonporphyric CLD patients (used as a control group). The parameters considered were the following: serum iron, ferritin, Total Iron Binding Capacity (TIBC) and percent saturation of transferrin. The statistical analysis showed that the differences between the means, in the two groups, were not significant in any of the parameters examined. To investigate the possible relationships between iron metabolism and other chemico-clinical parameters concerning the porphyric disease, the associated hepatic disease and hemometry, we studied the correlations between iron parameters and total urinary and serum porphyrins, serum copper, serum albumin, hemoglobin, red blood cells, ALT, AST, CHE and GLDH. This investigation was only possible in the last 99 cases. In addition to the obvious correlations between the parameters concerning iron metabolism, the highly significant (p < 0.001) correlation between ferritin and enzyme activities which indicate cytolysis (ALT, AST, GLDH) is extremely interesting. The results seem to point to the tentative conclusion that the alterations of iron metabolism are more related to the hepatocellular necrosis than to the metabolism of porphyrins.

Adolescent↗
PubMed1992

Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population.

The determination of the enzymatic activity of URO-D in erythrocytes is the screening method used for differentiation between hereditary and non-hereditary forms of porphyria cutanea tarda (PCT). The aim of the present work was to establish the relative frequencies of the symptomatic and hereditary forms by the determination of the URO-D enzyme in the PCT patients who were regularly treated at the Centre for Porphyrins in our Institute. In the course of this work we also examined the statistical properties of the distributions of both normal and porphyric subjects, so as to be able to suggest values for discriminating between normal subjects and the various types of porphyric subjects.

Adult↗
PubMed1989

Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: an exception to the rule?

The possibility that the differentiation between sporadic and familial porphyria cutanea tarda cannot always be made on the basis of the measurement of the erythrocytic uroporphyrinogen decarboxylase activity has been examined. Two cases of porphyria cutanea tarda, with a normal erythrocytic enzyme activity in a father and son, are described. The authors exclude that these are 2 cases of sporadic or toxic porphyria cutanea tarda within the same family. These 2 cases provide additional evidence for the existence of a form of familial porphyria cutanea tarda in which erythrocytic uroporphyrinogen decarboxylase activity is normal.

Adult↗
PubMed1989

[An unusual mechanism of lead poisoning. Presentation of a case].

A case is described, that came to our attention for suspected acute intermittent porphyria, with abdominal pain and ascending tetraplegia. The patient (HIV positive and with a HBsAg positive chronic aggressive hepatitis) was a heroin addict. In urine: high porphyrins with extremely increased delta amino-levulinic acid (ALA) and normal porphobilinogen. High protoporphyrin was present in blood red cells. The lead poisoning was confirmed by a very low ALA-dehydratase activity in erythrocytes and a high content of lead in urine and plasma. With Ca-versenate and penicillamine the abdominal and neurological symptoms rapidly disappeared. The possibility of contact with lead, professional or environmental, was ruled out. It was found however, that shortly before the appearance of symptoms, the patient had used a batch of unrefined brown sugar heroin, which was probably mixed with lead salts. It is noteworthy that during the same period, other young heroin addicts died with similar symptoms.

Adult↗
PubMedDate not supplied

Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.

Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. So far, more than 170 different mutations responsible for AIP have been identified worldwide in the HMBS gene. In this study we have performed molecular characterization in 14 patients with suspected diagnosis of AIP and in 29 family members of Italian ancestry. Molecular analysis of the HMBS gene allowed us to identify 13 different mutations among 14 patients with reduced HMBS activity: 5 splicing defects (IVS9+22 G>A, 612 G>T, IVS11-2 delA, IVS12+2 T>C, and IVS13-1 G>A), 1 small insertion (182 insGA), 1 small deletion (730-731 delCT), and 6 missense/nonsense mutations (76 C>T, 295 G>A, 331 G>A, 580 C>T, 673 C>T, and 874 C>T), resulting in single-amino-acid substitutions or protein truncations. Six of these molecular abnormalities had already been described and 7 are new findings. In a previous work on an Italian population we detected 7 different mutations among 8 AIP patients. This study has raised to 18 the number of different mutations so far found among the Italian AIP population, 11 of which are new findings. We can conclude that the mutation screening in the Italian population contributes to improvement of the diagnostic approach of AIP and to establishing possible clustering of mutations in the Mediterranean area.

Adolescent↗
PubMedDate not supplied

Segmental abdominal zoster paresis.

A case of uncommon feature of herpes zoster, a segmental abdominal paresis, is described. The importance of searching a motor defect in the thoracoabdominal segments and the utility of the electromyographic examination are stressed.

Abdominal Muscles↗