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Biomedical subjects

G Augello

Publications and source records attributed to G Augello.

12 recordsLinked to original sources
PubMed2006

Prevalence of oedema of the lower limbs in multiple sclerosis patients: a vascular and lymphoscintigraphic study.

The aim of the study was to evaluate the frequency of oedema of the lower limbs in multiple sclerosis (MS) patients utilizing a multidisciplinary approach. A total of 205 patients with definite MS were included in the study. Seventy-five were male and 130 female, with a mean age of 50.53, mean Expanded Disability Status Scale (EDSS) score of 5.27 and mean disease duration of 16.6 years. Seventy-one patients had a relapsing-remitting (RR) disease course, 85 were secondary progressive (SP) and 49 were primary progressive (PP). Ninety-three patients (45%) showed oedema at the examination. EDSS, disease duration and disease course, but not gender, were statistically different between oedema and non-oedema patients. Out of 93 patients with oedema, 69 agreed to undergo a vascular examination. Of 69 patients, 45 (65.2%) had a CEAP score (specific rating scale for oedema) of 3 (presence of oedema) and 24 (34.8%) had a score of 4 (presence of a trophic disorder). Out of 69 subjects, 33 agreed to undergo a lymphoscintigraphy, which was normal in only 29 extremities out of 66. Lower limb oedema is common in MS patients, especially in those with reduced mobility. Early screening is advised in patients with an elevated EDSS.

Adult↗
PubMed2000

Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.

Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder mostly characterized by cyst formation in kidney tubules. The majority of ADPKD cases is caused by mutations in the PKD1 gene, but no prevalent mutation has been reported. By heteroduplex analysis of the 3' single-copy region of the gene, we have searched for mutations in subjects from 40 ADPKD families of Northern Italy. Seven novel polymorphisms and three novel disease-associated mutations (R3718Q, L3851P and IVS45+56del25) were identified. Both missense mutations are located in the major extracellular loop of polycystin-1. The 25 bp deletion inside intron 45 did not affect 5' and 3' consensus splicing sites, but caused a 56 nucleotide out of frame-deletion due to activation of a cryptic 3' splice site in exon 46. The mutated RNA should produce a truncated polycystin 1 at the G binding peptide in the intracellular C-terminal end of the protein. RT-PCR analysis showed that the disease-associated mutations were present in transcribed sequences. In particular, RNA analysis of BHK cells transfected with PKD1 genomic DNA, including the deleted intron, showed that no normal transcript is produced by the deleted gene. This intronic mutation, found in a large pedigree, seems to be associated with a prevalence of cerebrovascular disease.

Adult↗
PubMed1999

Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells.

The polycystic kidney disease 2 (PKD2) gene, encoding a 968-amino acid integral membrane protein with six predicted membrane-spanning domains and intracellular NH2 and COOH termini, is mutated in approximately 15% of the cases of autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease frequently resulting in renal failure. For a better understanding of the cause of this disorder, we searched for mutations in the PKD2 gene in two PKD2-linked families characterized by different clinical phenotypes. A common polymorphism, a nonsense mutation, and a frameshift mutation were found. Both mutations are predicted to produce truncated proteins of 314 and 386 amino acids, arrested at the first extracellular loop of the protein. Restriction enzyme analysis of polymerase chain reaction (PCR) and reverse transcriptase (RT)-PCR products, respectively, showed that mutations cosegregated with the disease and mutated alleles were expressed at the messenger RNA level in lymphoblastoid cell lines. However, in these cells, Western blot analysis showed only PKD2 normal protein, and it was expressed at a lower level than that found in cells without the PKD2 mutation. These findings suggest that in lymphoblastoid cells, the truncated protein product of the mutant allele may not be stable.

Aged↗
PubMed1998

K562 erythroid and HL60 macrophage differentiation downregulates polycystin, a large membrane-associated protein.

Polycystin, the PKD1 gene product mutated in autosomal dominant polycystic kidney disease, is a large membrane protein which is important in the differentiation of epithelial tubular structure. Furthermore, PKD1 mRNA is expressed in various tissues and in neoplastic cell lines particularly, suggesting that polycystin might be involved in differentiation and/or proliferation of other cell types. Therefore, in order to investigate such a possible role, polyclonal antibodies against a recombinant polycystin peptide were raised and used to study polycystin expression in human leukemia cell lines committed to differentiation. Using Western blot and laser scanning confocal microscopy analyses, we demonstrated expression of polycystin in erythroleukemia K562 cells as a membrane-associated polypeptide of approximately 450 kDa, mainly localized in cell-cell contacts. Protein size and subcellular distribution were similar to those found in the kidney epithelial KJ29 cell line. In addition, K562 cell erythroid differentiation induced by hemin was characterized by a reduction in polycystin expression, as measured by Western blot and Northern blot analyses. Cytofluorimetric analysis indicated that upon hemin treatment there was a progressive reduction in the number of polycystin-expressing cells as well as in proliferation rate. Furthermore, reduction in proliferating and polycystin-expressing cells was also observed in K562 cells after serum starvation. When serum was added to the serum-deprived cells an increase in cell number as well as in number of polycystin-positive cells was observed. In addition, polycystin, also expressed in promyelocytic leukemia HL60 cells, was downregulated when macrophage differentiation in HL60 was induced by TPA. Therefore, in these leukemic cells downregulation of polycystin appeared to be closely related to reduction in cell proliferation and to induction of differentiation. This suggests that polycystin may play a relevant role in these cell processes.

Antibodies↗
PubMed1988

Rhizopus arrhizus in Italy as the causative agent of primary cerebral zygomycosis in a drug addict.

A rare case of primary cerebral zygomycosis in an Italian drug addict is described. The diagnosis was based on the histologic detection of broad, aseptate, hyaline mycelium in fluid aspirated from a brain mass detected by computerized axial tomography. The zygomycete isolated from the clinical specimen was identified as Rhizopus arrhizus var arrhizus. The patient had no known predisposing condition that would have suppressed his immunological defenses. Once the diagnosis was established, treatment with amphotericin B was initiated, but the patient died during the first day of treatment.

Adult↗
PubMed1987

Failed lumbar disk syndrome.

The Authors report 8 cases of Failed Lumbar Disk Syndrome (FLDS), on 210 patients operated for slipped disk. Risk factors and the concept that an abnormality involving either neurons in the substantia gelatinosa or internucial fibers in Lissauer's tract is responsible for pain in patients with FLDS are discussed. Since iatrogenic deafferentation pain response to almost all current forms of therapy is generally poor, the most rational approach remains prevention.

Back Pain↗
PubMedDate not supplied

[Chronic renal insufficiency of single kidney associated with genital, bone, and palpebral malformations].

Authors describe renal failure in a young woman with solitary pelvic kidney. Renal malformation was associated with genital and bone malformations that can be accounted for by the close relationship linking the genito-urinary and vertebral apparatuses during the first weeks of intrauterine life. Palpebral malformation which occurs very rarely in cases with renal malformations as reported in the literature was ascribed to hereditary factors. Changes of some indexes (serum and urine electrolytes, plasma renin and aldosterone) observed during the evolution of renal failure appear to confirm the role played by potassium in hormone balance and suggest repeated tests and dietary adjustments.

Abnormalities, Multiple↗
PubMedDate not supplied

Craniocerebral gunshot wounds in civilians. Report on 40 cases.

The Authors report an analysis on 40 cases of craniocerebral gunshot wounds treated in a civil hospital over a 8-year period. The important role of CT for a correct diagnosis and treatment planning is stressed even though patients with a G.C.S. lower than 4 die regardless of their CT findings; subdural and intracerebral hematomas are not a serious complication unless patient's neurological status is poor; timing of surgical treatment plays a major role in order to avoid infection of the wound.

Adolescent↗
PubMedDate not supplied

Primary spinal epidural lymphomas. Report of ten cases.

The Authors report their results on the treatment of 10 cases of primary spinal epidural lymphoma. All patients underwent surgery followed by radiotherapy and 60% of them improved after treatment. The Authors stress the importance the preoperative neurological status and early diagnosis play on the prognosis. They conclude that only further studies on a large series can determine the influence of the histological type of the neoplasm on prognosis.

Adolescent↗