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P Rocco

Publications and source records attributed to P Rocco.

At least 19 recordsLinked to original sources
PubMed2002

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

X-linked hereditary spastic paraplegias (HSPs) present with two distinct phenotypes: pure and complicated. The pure form is characterized by slowly progressive weakness and spasticity of the lower limbs, whereas the complicated forms have additional features (optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, epilepsy, ataxia, ichthyosis, mental retardation, and deafness). Three X-linked loci have been identified for the complicated HSP, while mutations in the proteolipid gene (PLP) (locus SPG2) were implicated in both pure and complicated forms. The absence of identified mutations in the PLP gene in families with both complicated and pure HSP, linked to the SPG2 locus, suggests the existence of another gene in close proximity. We had previously reported a large pedigree with an X-linked form of pure HSP affecting 24 males [Zatz et al., 1976: J Med Genet 13:217-222]. Here, we present the results of linkage analysis in 19 members of this Brazilian family with markers in or near the PLP locus. Positive LOD scores were obtained with markers at the PLP locus (Zmax = 2.41 at Theta = 0); however, no mutation was found in the coding region of PLP, the intron-exon boundaries, or part of the promoter region. The possibility of a duplication of the PLP gene was also excluded. These results suggest either that there is another X-linked gene in close proximity to the PLP gene or that a novel mutation in the noncoding regions of the PLP gene may cause the disease in this family.

Adolescent↗
PubMed2000

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin.

The autosomal dominant hereditary spastic paraplegias (AD-HSP) are a heterogeneous group of degenerative disorders of the central motor system, characterized by progressive spasticity of the lower limbs. Five loci for pure AD-HSP have been identified to date: SPG3 at 14q, SPG4 at 2p, SPG6 at 15q, SPG8 at 8q, and more recently SPG10 at 12q. We have analyzed a Brazilian family with 16 affected individuals by pure AD-HSP who developed progressive gait disturbance with onset at age 18-26 years. Linkage analysis performed with 13 relatives (6 affected and 7 normal) excluded SPG3, SPG4, and SPG6 as candidate regions. However, positive LOD scores were obtained with markers flanking the candidate region for the SPG8 locus [maximum two point Lod score (Zmax) = 3.3 at theta = 0 for D8S1804]. In this region lies the syntrophin beta 1 gene (SNT2B1), a widely expressed dystrophin-associated protein and therefore a good positional and functional candidate for this disease. Immunohistochemical and Western Blot (WB) studies showed that the distribution, expression, and apparent molecular weight of the beta 1 syntrophin protein were comparable to those of normal control individuals. Therefore, it is unlikely that defects in this protein are related to SPG8, at least in the present family.

Age of Onset↗
PubMed2000

Mitochondrial DNA polymorphisms in Chilean aboriginal populations: implications for the peopling of the southern cone of the continent.

The mitochondrial DNAs (mtDNAs) from individuals belonging to three Chilean tribes, the Mapuche, the Pehuenche, and the Yaghan, were studied both by RFLP analysis and D-loop (control region) sequencing. RFLP analysis showed that 3 individuals (1.3%) belonged to haplogroup A, 19 (8%) to haplogroup B, 102 (43%) to haplogroup C, and 113 (47.7%) to haplogroup D. Among the 73 individuals analyzed by D-loop sequencing, we observed 37 different haplotypes defined by 52 polymorphic sites. Joint analysis of data obtained by RFLP and sequencing methods demonstrated that, regardless of the method of analysis, the mtDNA haplotypes of these three contemporary South American aborigine groups clustered into four main haplogroups, in a way similar to those previously described for other Amerindians. These results further revealed the absence of haplogroup A in both the Mapuche and Yaghan as well as the absence of haplogroup B in the Yaghan. These results suggest that the people of Tierra del Fuego are related to tribes from south-central South America.

Base Sequence↗
PubMed2000

[Axillary lymphadenectomy and its complications].

Local and regional complications of axillary dissection are evaluated. According to other authors, the most frequent ones are infections, seroma and lymphoedema. Sentinel node biopsy can reduce the number of dissections and their complications.

Axilla↗
PubMed2000

[Post exercise myalgias as presentation form of dystrophinopathy].

Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders.

Blotting, Western↗
PubMed1998

Efficacy of high dose of recombinant alpha 2b interferon on long term response in chronic hepatitis C and cirrhosis: prospective randomized multicentre study.

BACKGROUND/AIMS: The long-term response to alpha-Interferon in HCV-related chronic liver diseases is disappointing. A randomized controlled trial was conducted to investigate: 1) if doubling the standard regimen of 3 MU recombinant alpha 2b-interferon thrice weekly for one year could improve the long-term response, and 2) the efficacy of these two schedules in cirrhotic patients. PATIENTS AND METHODS: A series of 80 anti-HCV positive patients with biopsy proven liver disease (52 chronic hepatitis and 28 cirrhosis) were randomized to receive either 3 MU or 6 MU alpha 2b-interferon. RESULTS: Based on "intention-to-treat analysis", 38% in the 3 MU group and 53% in the 6 MU group had end-of-treatment response. After 24 months, 18% had long-term response: 5% in 3 MU group and 30% in 6 MU group (p < 0.008). HCV genotype had no influence on the response rate. Thirty-eight percent of the cirrhotics treated with 6 MU had long-term response, while none of those treated with 3 MU had long-term response (difference 38%; 95% confidence internal 10%-67%; p = 0.03). At the end of treatment, 38% of patients lost HCV-RNA. After 24 months only 19% remained HCV-RNA negative: 12 patients (31%) in the 6 MU group and 2 (6%) in the 3 MU group (p < 0.05). CONCLUSIONS: 6 MU of alpha 2b-interferon thrice weekly for 12 months is significantly better than 3 MU in inducing a long-term response and permanent loss of HCV-RNA. This result is particularly striking in the subgroup of cirrhotics.

Adult↗
PubMed1996

[The peripheral blood lymphocyte subpopulations in chronic anti-HCV-positive liver disease: their significance and correlation with liver function].

To evaluate the role played by the immune system in the outcome of chronic C virus infection, we studied the peripheral blood lymphocyte subsets in patients with chronic hepatitis C and the correlation with the hepatic function assessed by the lidocaine test. To this end the peripheral lymphocyte subpopulations were enumerated by flow cytometry in 36 patients we had undergone a liver biopsy, prior the interferon therapy. The patients were classified as having severe chronic hepatitis with or without cirrhosis (17 subjects = group A) and mild/moderate chronic hepatitis without cirrhosis (19 subjects = group B). Twelve patients in group A and 9 in group B underwent the lidocaine test. The mean percentages of the lymphocyte subsets were not different in the two groups and in comparison with a standard healthy population, with the exception of okdr+ lymphocytes; they were significantly increased in group A (p = 0.04). The production of the lidocaine metabolite at 30 minutes prove, significantly decreased in patients with severe hepatic disease (p = 0.02), but there is no correlation between the decline of liver function and the peripheral increase of the okdr+ lymphocytes (r = 0.1877). It is probable that the increase in okdr+ lymphocytes, due to activated T-cells, is subordinated to the persistent viremia but it is independent of histological damage.

Adult↗
PubMed1994

Monoethylglycinexylidide production as a measure in predicting hepatic histology.

To clarify whether monoethylglycinexylidide (MEGX) production can be useful in predicting the severity of chronic liver disease, 51 subjects were enrolled in this study: 13 mild-moderate CAH (group A), 9 severe CAH (group B), 29 cirrhosis, 18 compensated and 11 decompensated disease (group C). The patients were injected with a 1 mg/Kg lidocaine bolus i.v. and serum-sampled for MEGX values (time 15, 30 and 60 minutes), determined by TDX-immunoassay. MEGX formation was significantly different (Mann-Whitney U test) in the three groups at each time interval, especially at 30 min: group A = 70.5 +/- 9.9 ng/ml (mean +/- SD); group B = 49.7 +/- 7.2; group C = 37.2 +/- 19.5 (in A vs B, p = 0.0003; in A vs C, p < 0.0001; in B vs C, p = 0.0237). The difference between compensated and decompensated cirrhosis was always significant (p = 0.0099, 0.0005, 0.0113 respectively) but between severe CAH and compensated cirrhosis it was marginal only at 15min (p = 0.0763) and absent at 30 and 60min. At 30min MEGX values > 60 suggest mild-moderate CAH, < 40 cirrhosis, < 30 decompensated cirrhosis, between 40 and 60 severe CAH or compensated cirrhosis. We are of the opinion that the MEGX test could be utilized to predict hepatic histology.

Adult↗
PubMed1992

Evaluation of heavy metal pollution in the Venetian lagoon by using Mytilus galloprovincialis as biological indicator.

This study reports the analysis of heavy metal (Cd, Co, Cu, Cr, Hg, Fe, Mn, Ni, Pb, Zn) and As accumulated in the mollusc Mytilus galloprovincialis collected in the Venetian lagoon between March and September 1988. This environmental biomonitoring project was carried out using natural population of the molluscs attached to the 'Briccole', which limit the navigation canals into the lagoon. These data were compared with those reported by other authors in analogous studies published about a decade ago. A small improvement on the heavy metal pollution of the Venetian lagoon can be deduced from this comparison, presumably depicting a positive signal of a new downward trend in metal concentrations. Continuous monitoring of the fragile lagoonal ecosystem must be an important commitment due to the economic and historical importance of the Venetian lagoon.

Animals↗
PubMed1987

Responses to nifedipine by patients with Raynaud's disease and Raynaud's phenomenon secondary to another disease.

Thirteen patients with Raynaud's phenomenon were studied; six patients had the primary disorder and in the other seven progressive systemic sclerosis was diagnosed. Each patient received 10 mg of nifedipine; telethermographic evaluation of the hands was performed in basal conditions and 30 minutes after the administration of the drug. A more marked increase of hand tissue temperature was observed in the patients with progressive systemic sclerosis than in those with the primary disorder.

Adult↗
PubMed1984

Long-term treatment of chronic schizophrenics with clopenthixol decanoate.

A study was carried out in 68 chronic schizophrenic out-patients to assess the therapeutic effectiveness and tolerance of long-term maintenance treatment with a depot preparation of clopenthixol decanoate. Patients received 200 mg to 600 mg doses by intramuscular injection every 2 to 3 weeks for a mean treatment period of 20.3 months. Clinical symptomatology was assessed at regular intervals using the Brief Psychiatric Rating Scale (BPRS) and any adverse effects were recorded against a standard check-list. The results showed that there was a significant reduction in total and factor composition BPRS scores after treatment in all patients, the improvement becoming generally evident by the sixth month of treatment. Few autonomic and neurological side-effects were reported.

Adult↗
PubMed1984

[Serological indices of autoimmunity in an Italian case-load of chronic active HBsAg positive and negative hepatitis].

In South Italy chronic hepatitis is characterized by high frequency of HBsAg positivity, male prevalence and infrequent presence of clinical signs of autoimmunity. To clarify some etiologic aspects of HBsAg negative chronic hepatitis, immunofluorescent tests for ANA, AMA, SMA and for liver membrane antibody (LMA) were performed on the sera of 116 consecutive non alcoholic patients with histological pattern of chronic active hepatitis (42 HBsAg+, 35 antiHBV+ and 39 negatives for all HBV markers). ANA, AMA and SMA positivity did not differentiate the three groups of patients. LMA was detectable in the sera of a relatively few number of cases; no difference was found between HBsAg positive and negative patients (21% and 18% respectively). On the contrary strong association (p less than 0.0005) was found between LMA positivity and activity of the disease, as evaluated on the basis of transaminases and IgG serum levels. These results indicate that autoimmune chronic hepatitis is rare in our geographical area and they suggest that LMA positivity is not a specific test of autoimmune liver diseases.

Adolescent↗
PubMed1982

Telethermographic aspects of the dorsolumbar region in idiopathic scoliosis.

Thermography registers thermal radiations emitted by a body on the infrared frequency. It has recently been used increasingly in medicine for the study of the thermal distribution of the skin coating. This study was carried out on 66 patients with idiopathic scoliosis who presented different degrees of curvature in different sites. In 94% of the cases an area of thermal asymmetry was found at the level of the main curvature, evidence of a different blood supply and, therefore, of different activity of the paravertebral muscles.

Body Temperature↗
PubMed1980

Left arm thermography in early and maturity onset obesity.

Left-arm thermography and adipose-tissue biopsy of triceps skinfold have been performed in seven patients with obesity of early onset (EO), seven with maturity-onset obesity (MO) and seven non-obese control subjects (C). Obese patients were within the same range for age, physical activity, excess body-fat content and skinfold thickness; mean fat-cell diameter was found to be significantly higher in the group MO than either EO (P less than 0.05) or C subjects (P less than 0.01). Colour thermograms, as evaluated by a well-standardized score system, showed that skin temperature was higher in MO than in EO or C cases (P less than 0.05). The combination of fat-cell hyperplasia and lower thermal losses from the skin, indicative of a lower rate of energy expenditure, may explain the higher frequency of therapeutically refractory cases in EO than MO patients.

Adult↗