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Biomedical subjects

L Bruni

Publications and source records attributed to L Bruni.

At least 55 records · Page 3Linked to original sources
PubMed1984

Trisomy for the short arm of chromosome 10. Report of a new case resulting from segregation of a maternal balanced translocation t(10qter----q11::14p11----qter).

A 6-month-old boy with trisomy 10pter----q11 is reported. He presented facial dysmorphism very similar to that found on most other cases of trisomy 10p syndrome, dextrocardia, umbilical hernia, hypotonia and mental retardation. The chromosome anomaly was inherited by 3:1 segregation of a balanced maternal translocation, t(10qter----q11 ::14p11----qter).

Abnormalities, Multiple↗
PubMed1983

Partial monosomy for a 21 chromosome. Report of a new case of r(21) and review of the literature.

A 21-month-old male infant with 46,XY,r(21) constitution identified by G and R banding is reported. The main clinical features were mental and physical retardation, microcephaly, antimongoloid slant of eyelids, malformed and low set ears. The clinical and cytogenetic findings of previously reported cases of r(21) are reviewed. Clinical resemblance to the eleven cases described in the literature is striking. The assays for superoxide dismutase (SOD-1) activity in the red blood cells from patient and his parents gave normal results. This findings is compatible with the hypothesis that only the segment distal to the SOD-1 locus, i.e. 21q22.2 leads to qter, has been lost during ring formation.

Aneuploidy↗
PubMed1980

Segregation of an X ring chromosome in two generations.

A 45,X/46,X,r(X) mosaicism was found in a mother and daughter. Characterisation of the ring by banding studies showed that breakpoints had occurred at bands Xp13 and Xq27. It is confirmed that women heterozygotes for partial deficiencies of the short arm of an X chromosome are fertile. Although the mother developed secondary amenorrhoea at the age of 29, it is suggested that fertility per se may not be affected by deficiencies of the distal part of Xq.

Chromosome Aberrations↗
PubMed1980

Preliminary results of a clinical trial relative to the use of rifamycin SV in the treatment of herpes zoster.

In a controlled clinical trial undertaken in ten Italian centres, rifamycin SV was compared to associations of various drugs such as erythromycin, aureomycin, multivitamin preparations, etc, in the treatment of herpes zoster. Up to now 144 patients, suffering from herpes zoster at different localizations, were divided into three groups and randomly given either rifamycin SV by intramuscular injection and topically, or rifamycin SV by injection only, or the routine treatment used at the particular centre in question. To evaluate the effectiveness of the treatments, the presence of subjective and objective symptoms was determined before treatment started and daily thereafter. The duration, in days, of the most important symptoms, such as erythema, vesicles, scabs and pain, was considered for this partial evaluation. All the above-mentioned symptoms constantly showed a shorter duration in the two groups treated with rifamycin SV compared to the group treated with other therapies, with differences as significant on statistical calculation as they were important on the level of a clinical evaluation of the disease's course.

Administration, Topical↗
PubMed1977

Translocation Y/5 resulting in Cri du Chat syndrome.

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Arm↗