PubMed Health⌕ Search

Biomedical subjects

A Daniele

Publications and source records attributed to A Daniele.

At least 37 records · Page 2Linked to original sources
PubMed1998

[Osteochondroma of the mandibular condyle].

Osteochondroma is a common benign tumor of the axial skeleton. Despite its preference for long bones, osteochondroma may occur in any bone developing by endochondral ossification, therefore it concerns mandibular condyle as well. This lesion is more common in males than in females and it can occur singly or as a part of an autosomal dominant syndrome known as osteochondromatosis. Solitary osteochondroma has a low incidence of sarcomatous change (1%) while patients with osteochondromatosis have a higher risk of sarcomatous transformation (11%). Symptoms of this lesions are mandibular asymmetry, malocclusion with cross-byte, temporomandibular joint intermittent pain hypomobility, clicking, and the presence of a palpable painless mass in the temporomandibular area. Therapy needs a surgical treatment which can consist in a one-stage or in a two-stage surgical approach. Prognosis is generally favourable.

Adult↗
PubMed1997

Sexual behavior and hemispheric laterality of the focus in patients with temporal lobe epilepsy.

Various studies have described an unusually common incidence of sexual and reproductive dysfunction in patients affected by temporal lobe epilepsy (TLE). The purpose of the present study was to further investigate, by means of an ad hoc questionnaire, the relationship between sexual disorders and the hemispheric laterality of the epileptic focus in men and women with right (R) TLE and left (L) TLE. The results suggest a reduction of sexual interest in patients with R-TLE as compared with L-TLE in both men and women. This effect was fundamentally observed when sexual interest was implicitly explored. No significant difference was found between R-TLE and L-TLE groups concerning most aspects of sexual performance. Various hypotheses are discussed to interpret this effect of hemispheric lateralization on sexual interest.

Adult↗
PubMed1995

Expression of the two iduronate-2-sulfatase cDNAs.

The iduronate-2-sulfatase (IDS) is a lysosomal enzyme that acts on sulphate groups on C-2 positions of the iduronic acid residues of the mucopolysaccharides heparan sulphate and dermatan sulphate. Recently, we described in mouse two IDS mRNAs: the first or canonic (MTA16), highly homologous to the human counterpart, the second or novel (MTA13), completely divergent from the canonic in the 3' region. In this study, by reverse transcriptase polymerase chain reaction (RT-PCR) we analyzed the expression of the two mRNA transcripts for the IDS gene in murine tissues, in various human cell-lines and in cells from some Hunter patients.

Animals↗
PubMed1994

Evidence for a possible neuroanatomical basis for lexical processing of nouns and verbs.

Neuropsychological studies have revealed that brain-damaged patients may show impairments of specific word categories. This study reports the performance of three patients with impairments of the categories noun and verb. The first and second patients, with left frontal lobe atrophy, were impaired in naming and comprehension of verbs. The third patient, with striking atrophy of the left temporal lobe, was disproportionately impaired in naming and comprehension of nouns. These findings suggest that anatomically distinct neural systems in the temporal and frontal lobes of the dominant hemisphere might play a critical role in lexical processing of nouns and verbs, respectively.

Aged↗
PubMed1994

The calf superoxide dismutase receptor of rat hepatocytes.

The presence of a specific SOD surface membrane receptor in rat hepatocyte cells was investigated using ligand blot analysis of the SOD receptor with 125I-SOD, and binding studies with iodinated and fluorescinated SOD. A specific SOD receptor with a molecular weight of about 320 kDa was identified. We suggest that the modulatory role of SOD on HMG-CoA reductase is exerted through this specific receptor.

Animals↗
PubMed1994

[Trismus due to hypertrophy of the coronoid processes. A clinical case report].

Symmetrical bilateral hypertrophy of the coronoid processes is a rather unusual pathology due to an abnormal apposition of bone tissue. It's more often seen in males and it causes a reduction in mouth opening as far as trismus, for the interference of coronoids against the anteromedial margin of the zygomatic arch. Etiology is till now not definite. Diagnoses is founded on anamnesis and radiographies. The only indication for the solution of the problem is bilateral coronoidectomy, made via the endoral way, which gives good results either immediately or after years as is shown by the clinical case we have presented.

Adolescent↗
PubMed1993

The mouse iduronate sulfatase gene: identification of a novel transcript.

Complementary DNAs, cDNAs, coding for iduronate sulfatase (IDS, E.C.3.1.6.13) have been isolated and characterized in man and mouse. The murine cDNA (MTA16) was highly homologous to the human counterpart. By screening the same mouse thymus cDNA library another cDNA (MTA13) was isolated: it is 1831 bp long and is identical to a part of the MTA16 cDNA in its 5' region, but it is completely divergent in the 3' region. Characterization of the MTA13 mRNA as well as its genomic organization are presented. The results herein reported support the hypothesis that MTA13 and MTA16 mRNAs are encoded by the same gene.

Amino Acid Sequence↗
PubMed1993

Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.

Iduronate sulfatase (IDS; EC 3.1.6.13) is a lysosomal enzyme that acts on sulfate groups on C-2 positions of iduronic acid residues of the mucopolysaccharides dermatan and heparan sulfate. A deficiency of this enzyme activity in man leads to Hunter syndrome (Mucopolysaccharidosis type II). We report here the cloning and sequence characterization of the murine iduronate sulfatase cDNA which encodes 564 amino acid residues. Within the coding region the murine gene is 84.9 and 84.5 identical to the human gene at the nucleotide and amino acid levels, respectively. The two regions containing the putative catalytic site are especially well conserved. Genetic mapping of the murine Ids cDNA in an interspecific backcross confirms an X chromosomal location between Fmr-1 and Gabra3.

Amino Acid Sequence↗
PubMed1993

Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).

We report the results over 15 years (1977-1991) for biochemical diagnoses of patients referred from throughout Italy and suspected of having a mucopolysaccharidosis. Of these, 147 patients were diagnosed as being homozygous or hemizygous for a specific lysosomal enzyme deficiency; 74 pregnancies at risk were monitored in their families; 76 heterozygote diagnoses were performed on their relatives, with a total of 48 positive diagnoses. We also report the analysis of genomic DNA from 11 unrelated Italian Hunter patients, using pc2S15 probe. DNA from two patients, digested with Pst-I, showed a variant pattern of hybridization caused by deletion or rearrangement of the gene.

Adolescent↗
PubMed1993

Heterogeneity of DNA and RNA in Hunter patients.

Genomic DNA and total RNA from lymphoblasts of nine unrelated Italian patients affected with Hunter syndrome were analyzed using a human cDNA clone coding for the lysosomal enzyme iduronate-2-sulphatase (IDS). Southern blot analysis resulted in patterns similar to the normal control for seven of the patients analyzed; an aberrant pattern was observed in two patients (F.N. and P.D.), suggesting deletions/rearrangement in the IDS gene. Northern blot analysis showed in seven patients, a pattern similar to the normal control; for patients F.N. and P.D. the pattern was atypical, i.e., normal RNA species were absent whereas two different transcripts occurred. These data confirm the heterogeneity of the molecular defects causing Hunter disease.

Blotting, Northern↗
PubMed1993

Category-specific deficits for grammatical classes of words: evidence for possible anatomical correlates.

Several neuropsychological studies have shown that brain-damaged patients may demonstrate category-specific deficits for grammatical classes of words, such as nouns and verbs. We describe 3 patients with selective impairments of these latter categories. The first patient, with marked atrophy of the left temporal lobe, was disproportionately impaired in naming and comprehension of nouns. The second patient, with a predominantly left frontal lobe atrophy, was selectively impaired in naming and comprehension of verbs. The third patient, with a left frontal lobe perfusion abnormality, had a selective impairment in naming and comprehension of verbs. Evidence from the present study support the hypothesis that anatomically distinct neural systems in the temporal and frontal lobes of the dominant hemisphere might play a critical role in lexical processing of nouns and verbs respectively.

Aged↗
PubMed1992

A recombinant human 'mini'-hexokinase is catalytically active and regulated by hexose 6-phosphates.

Mammalian hexokinase type I is a 100 kDa enzyme that has been considered to be evolved from an ancestral 50 kDa yeast-type hexokinase, insensitive to product inhibition, by gene duplication and fusion. According to this model, and based on many experimental data, the catalytic site is associated with the C-terminal half of the enzyme, although an allosteric site for the binding of glucose 6-phosphate could be present on the N-terminal half of the molecule. We have isolated a cDNA clone of hexokinase from a lambda gt11 human placenta library comprising 2658 bp, containing a single open reading frame of 1893 nucleotides, which encodes a truncate form of hexokinase starting from asparagine-287 to the terminal serine-917. This clone was further digested with restriction enzyme NcoI to obtain almost only the C-terminal half of human hexokinase starting from methionine-455 to the terminal amino acid and was overexpressed in active form in Escherichia coli and purified by ion-exchange h.p.l.c. The overexpressed 'mini'-hexokinase was found not only to catalyse glucose phosphorylation, but also to be inhibited by glucose 6-phosphate and other mono- and bis-phosphate sugars exactly like the complete mammalian enzyme. These results suggest that the C-terminal half of human hexokinase, in addition to the catalytic site, also contains the regulatory site and that the evolutionary relationship between the hexokinases should be reconsidered by including the appearance of a regulatory site before the gene duplication.

Amino Acid Sequence↗
PubMed1992

Cell-to-cell contact between normal fibroblasts and lymphoblasts deficient in lysosomal enzymes.

Human lymphoblasts deficient in iduronate sulfatase or in alpha-N-acetylglucosaminidase acquire discrete levels of enzyme activity after co-culture with human normal skin fibroblasts. This occurs by direct cell-to-cell contact and not by uptake of secreted fibroblast enzyme. The process is dependent on time and on the number of fibroblasts used. Electron-microscopic examination of the co-culture of the two cell types reveals extensive region of intimate contact. Fibroblastic projections appear frequently in close apposition with lymphoblast invaginations; a diffuse micropinocytotic activity is evident only in fibroblastic cells.

Acetylglucosaminidase↗
PubMed1992

Postural axial tremor in a patient with cerebellar atrophy.

A patient affected by low-frequency postural tremor of the trunk and limbs is reported. Apart from mild dysarthria and gait ataxia, no other neurological abnormalities were present. Cerebellar atrophy was demonstrated by means of magnetic resonance imaging. The tremor was associated with alternating activity in antagonistic muscles; it was triggered whenever a contraction of lumbar back extensor muscles occurred. Electrical stimulation of the cerebellum did not produce the normal suppression phases of motor responses evoked by a magnetic stimulation of the cerebral cortex.

Aged↗
PubMed1992

Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI.

Two long-haired Siamese cats are reported with clinical manifestations of human mucopolysaccharidosis VI (Maroteaux-Lamy disease): facial dysmorphia, dysostosis multiplex, paralysis. Urine of the two affected animals contained a high concentration of glycosaminoglycans, as detected by the dimethylmethylene blue test. Qualitative analysis, performed by thin-layer chromatography of the cetylpyridinium chloride-precipitable material, showed dermatan sulphate. Excessive incorporation of [35S]sulphate in the intracellular mucopolysaccharide of cultured fibroblasts and deficiency of arylsulphatase B in such cells indicate that these cats are affected by Maroteaux-Lamy disease. They should thus be considered the first European case of feline mucopolysaccharidosis VI.

Animals↗
PubMed1992

Early rightwards orienting of attention on simple reaction time performance in patients with left-sided neglect.

A specific disruption in the ability to automatically disengage attention from its previous focus has been hypothesized to account for the extinction phenomenon often observed in the unilateral spatial neglect syndrome. Recent literature, however, also brings out the role played in neglect by an imbalance in the attentional orienting systems, resulting in an early shift of attention towards the side of space ipsilateral to the brain lesion. In the present study we hypothesized that this attentional bias in orienting of attention might be demonstrated in a paradigm of simple reaction time to lateralized visual stimuli by contrasting the presence vs the absence on the computer screen of the square boxes used to facilitate position expectancy. A main prediction was made that patients with neglect would show a significant increase in reaction time to contralateral visual stimuli in the presence of bilateral reference boxes as compared to conditions in which no boxes were displayed. The right-sided box was in fact expected to exert an early attraction on the patient's attention, thus modifying the pattern of reaction times to the proper targets. This prediction was confirmed in right brain-damaged patients with moderate to severe neglect.

Adult↗