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Biomedical subjects

P Melis

Publications and source records attributed to P Melis.

28 records · Page 2Linked to original sources
PubMedDate not supplied

Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site.

This study narrows down the localization of the gene coding for the cerebellar degeneration-related protein (CDR 34) to the upper boundary of the FRAXA and reports the finding of two common RFLPs respectively identified at an RsaI site flanking the 3' end of the gene and at a Hincll site flanking its 5' end. Segregation analysis carried out in the CEPH-pedigrees for the new CDR/RsaI-RFLP versus other polymorphic loci of the region has established a tight linkage with the markers DXS105/DX98 and absence of measurable linkage with two clusters of markers respectively located proximally to the FRAXA (F9, DXS102, DXS51, and DXS369) or distally to it (DXS52, DXS304). In addition, two recombinants were found among 23 scorable sibs identified in the Sardinian pedigrees segregating for the Martin-Bell Syndrome (MBS) and the CDR/RsaI variants. The overall evaluation of the in situ and genetic data reported suggest that the CDR locus 1) is located at the upper boundary of the FRAXA site; 2) is distal to DXS51 and proximal to DXS 389; and 3) segregates in a close linkage association with the loci DXS98 and DXS105 and, to a lesser extent, with the locus for MBS.

Antigens, CD34↗
PubMedDate not supplied

Role of proteinuria reduction in the progression of IgA nephropathy.

UNLABELLED: Proteinuria has been shown to play a causal role in the progression towards ESRD of IgA nephropathy (IgAN). We demonstrated that steroids are effective in reducing proteinuria and preserving renal function. AIM: to evaluate the long-term effect of steroids in IgAN patients (6th year evaluation) and better clarify the role of proteinuria reduction in slowing down the progression. METHODS: multicenter randomized controlled trial of 86 adult IgAN patients with serum creatinine < or = 1.5 mg/ dL and moderate proteinuria. They received either supportive therapy or methylprednisolone 1-g i.v. for three days at months 1, 3, and 5, plus oral prednisone (0.5 mg/kg every other day for six months). RESULTS: Proteinuria significantly decreased in the treated patients (from 2.0+/-0.60 g/24 h at baseline to 1.0+/-0.68 g/24 h at six months) and remained stable till the 6th year (0.67+/-0.5 g/24 h), it slightly decreased in the control group. Six-year renal survival was significantly better in the steroid than in the control group: 9 patient (20.9%) in the steroid group and 15 (34.8%) in the control group reached the primary end-point of a 50% increase in serum creatinine from baseline. Five controls and none of the steroid-treated patients started dialysis. Steroid-treated patients did not experience any major side effects during follow-up. CONCLUSIONS: Steroids significantly reduce proteinuria and protect against renal function deterioration in IgAN patients. Early reduction of proteinuria could also be marker of a persistent reduction in its levels over time and of a better outcome in the long term.

Adult↗
PubMedDate not supplied

[Pulmonary re-expansion edema. Description of two cases and observations about its management].

Two cases of Reexpansion pulmonary edema (RPE), an uncommon complication of the treatment of chronic lung collapse secondary to pneumothorax or pleural effusion, are described. RPE is generally unilateral and occurs when the lung is rapidly reexpanded by active evacuation of large amounts of air or fluid. Nevertheless, both cases observed confirm that RPE can be seen when the pulmonary collapse is of short duration and the lung is reexpanded without suction. The pathogenesis of RPE is still unclear and is probably multifactorial. Implicated in the etiological process of RPE are chronicity of collapse, technique of reexpansion, increased pulmonary vascular permeability, airway obstruction, loss of surfactant, and pulmonary artery pressure changes. In the observed cases RPE appeared unexpectedly and dramatically, which is typical of the condition. The edema progressed for 24-48 hours, although it may persist for 4-5 days. Therapy was supportive and proportional to the severity of the clinical picture. Both needed mechanical ventilation, while only in case 1 was a hemodynamic support applied. Since the outcome is still fatal in 20% of cases, physicians treating chronic lung collapse must be aware of the possible causes and try to prevent the occurrence of this complication.

Adult↗
PubMedDate not supplied

Assessment of the metals contamination of the low Sebou sediments (Morocco).

The heavy metals contamination of the lower Sebou sediments was studied to determine the average degree of contamination and to assess the extent of anthropogenic contamination. The spatial and temporal distribution of these metals and the results of the contamination indices showed very serious metallic contamination principally of Cr, Pb and Hg. However accurate analysis of the situation in the river mouth was complicated by the fact that the metals could be moved by the tides and currents.

Chromium↗
PubMedDate not supplied

The impact of lead pollution on the environment of Rabat-Sale' (Morocco).

There are numerous possible vectors of industrial lead poisoning in unprotected work environments and the areas surrounding industrial sites. In the Rabat-Salé region, ceramics is the industry which uses most lead. Galena (PbS) is used in the fabrication of some types of pottery, and other lead-based compounds are used as glaze. A second source of lead pollution is the production of some fuels, in which lead is used as an anti detonator. In order to evaluate the impact of lead contamination on the environment, our investigation is focused on the lead concentration in the atmosphere, soil and vegetation at five stations in the Rabat-Salé region. We found concentrations of lead higher than those published for any other country in the atmosphere and vegetation near the ceramics factories of Rabat-Salé. These concentrations decreased significantly as we moved away from urban areas.

Air Pollutants↗
PubMedDate not supplied

Effects of fire on the state of several elements in some soils of Sardinia.

In order to individuate the modifications induced in the soil by fires relatively to the mobility of metals and rare earth three soils of Sardinia which differ in their mineralogical and physico-chemical characteristics were sampled. The analytical results obtained on the samples drawn at different depths (0-5 and 10-30 cm) three months after a fire and on the tests indicate that only the surface layer underwent significant modifications. The dynamics of metals and the distribution of the rare earths were found to depend, besides the amount and quality of the burned material, on the different behaviour of elements towards leaching. The diffractometric analysis showed that the soil surface layer of all the samples did not exceed 400 degrees C.

Calcium↗
PubMedDate not supplied

[Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].

Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).

Abnormalities, Multiple↗
PubMedDate not supplied

[Wiedemann-Beckwith syndrome in childhood].

A follow up examination was carried out in a 10 year old child who had been diagnosed as having Wiedemann-Beckwith syndrome soon after birth. Macrosomy was seen to persist and body asymmetry and some dysmorphic aspects had become more pronounced over the years. The presence of moderate mental deficiency had led to difficulty in social relationships. In the prepuberty phase, the reappearance of hypoglycemia crises, which were also noted in the neonatal age, was of particular interest.

Beckwith-Wiedemann Syndrome↗
PubMedDate not supplied

[Cytogenetic and clinical aspects of Prader-Willi syndrome].

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.

Child↗