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Biomedical subjects

A Viola

Publications and source records attributed to A Viola.

50 records · Page 3Linked to original sources
PubMed1991

Hemoglobin Neapolis, beta 126(H4)Val----Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.

A novel beta-chain, beta 126(H4)Val----Gly, electrophoretically silent, was detected by reverse-phase high performance liquid chromatography in three unrelated families from Naples (Southern Italy) and accounted for about 30% of the total beta-chains. The amino acid substitution was detected by HPLC fingerprint. The eight heterozygous patients showed hematologic and biosynthetic alterations of mild beta-thalassemia type. The hemoglobin variant showed abnormal stability features. It was unstable in the heat stability and isopropanol precipitation tests, but did not cause a hemolytic syndrome in vivo and was stable in a time-course experiment of biosynthesis in vitro. DNA polymerase chain reaction direct sequencing of the mutated gene from 135 nt upstream of the cap site to 106 nt downstream of the polyadenylation site showed only the beta 126 GTG----GGG mutation, which was confirmed in the other patients by allele-specific oligonucleotide hybridization. The mutation was found to be associated with a type II beta-globin framework and restriction fragment length polymorphism haplotype V. The novel variant was named hemoglobin Neapolis.

Base Sequence↗
PubMed1991

(Alpha)alpha 5.3: a novel alpha(+)-thalassemia deletion with the breakpoints in the alpha 2-globin gene and in close proximity to an Alu family repeat between the psi alpha 2- and psi alpha 1-globin genes.

A novel 5.3-kb deletion of the alpha-globin gene cluster was observed in a family from Naples, Southern Italy. It removes the 5' end of the alpha 2-globin gene, causing an alpha (+)-thalassemia defect. Because of the presence of the residual 3' end of the alpha 2-globin gene, we indicated this new haplotype with the symbol (alpha)alpha 5.3. The 5' breakpoint, the first to be reported in the intergene region of the psi alpha 2- and psi alpha 1-globin genes, is located 822 bp upstream of the cap site of the psi alpha 1-gene and about 150 bp upstream of a 300-nt Alu family member. The 3' breakpoint is located in the IVS-1 nt 58 of the alpha 2-globin gene. The 5.3-kb deleted fragment shows particular characteristics: it contains four Alu sequences having long regions 80% complementary and the 5'-GGCC-3' short repeat at both ends. The sequences spanning across the breakpoints on the same strand and containing this repeat on their 3' and 5' ends, respectively, are 17 of 25 base complementary. These particular features led us to assume the formation of a multistem-loop due to the intrastrand interaction between the complementary regions as intermediate to the deletion. The unusual localization of the 5' breakpoint suggests that even the intergene region of the psi alpha 2- and psi alpha 1-globin genes may function as a deletion target.

Base Sequence↗
PubMed1988

Entrapment of the medial meniscus in a fracture of the tibial eminence.

Fracture of the intercondylar eminence of the tibia is unusual in adults. Long-term morbidity is uncommon. This is a case in which the anterior horn of the medial meniscus became entrapped in the fracture site after non-operative treatment of a completely displaced fracture, causing persistent medial knee pain. Arthroscopic release of the entrapped meniscus provided excellent relief of symptoms.

Adult↗
PubMed1982

[Not Available].

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History, Modern 1601-↗
PubMed1982

[Soft tissue sarcoma: histologic factors of prognosis].

With the intention of evaluating the prognostic value of 4 histopathological factors (cellularity polymorphism, mitotic index and necrosis), 80 cases of soft tissue sarcomas treated between 1960 and 1979 at the Oncology Institute of Montevideo, Uruguay were reviewed. There was a high correlation between the 4 variables. Their results provided similar models for actuarial survival rates and coefficients of regression. Nevertheless, when the factors were combined according to a linear regression model, cellularity lost almost all of its prognostic value, while necrosis and mitosis increased the prognostic influence of the equation. The percentage of variance explained by the combination of these factors was only 27 per cent. It is supposed that a substantial part of residual variance is due to factors which have not been included in the model, that is, the size of tumor, the depth of the lesion and its location. It is also conceivable that the intermediate number of cases and, more important, the heterogeneous distribution of histopathological types and primary sites might modify these results. Multiple prognostic evaluations are recommended for each histopathological type and for each different site.

Adolescent↗
PubMed1977

Dependence of cytoplasmic on mitochondrial protein synthesis in K. lactis CBS 2360. II. Genetic studies.

A few eryR mutants independently isolated from K. lactis CBS 2360 display a conditional lethal phenotype at the temperature of 36 degrees C. In addition to drug resistance, also conditional lethality shows a non-Mendelian pattern of inheritance and is affected by exposure of the cells to Ethidium Bromide, indicating that in this yeast mitochondrial DNA controls cell viability. The results obtained from biochemical analysis suggest that the cellular functions in which are involved the gene products of the mitochondrial mutants analized are cytoplasmic protein and RNA syntheses.

Cytoplasm↗
PubMed1975

[Maximal mid-exiratory flow (MMEF) in the evolution of the respiratory functional patter of silicosis. (author's transl)].

A follow up study of VC, FEV and MMEF was performed by the authors in forty silicotic patients, mainly in order to find out if MMEF were more sensitive than VC and FEV 1 IN detecting respiratory function impairment in the follow up of silicosis. In patients with moderate bronchial obstruction, a statistically significant difference was found between themean values of MMEF measured in two different instances: such a finding suggests a greater MMEF reduction in the early stages of silicosis. In 22 subjects with moderate respiratory function impairment (VC and FEV1 less than or equal 40% predicted values), MMEF was found to be, percentually, more decreased than FEV1: the difference was statistically significant. It is therefore concluded that MMEF changes in the follow up examination of silicosis are more sensitive than other functional indexes.

Forced Expiratory Flow Rates↗