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Biomedical subjects

E Ferrante

Publications and source records attributed to E Ferrante.

At least 37 records · Page 2Linked to original sources
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↗
PubMedDate not supplied

[Clinico-electrophysiological study of vincristine neuropathy. Study of 6 leukemic children].

A longitudinal clinical-electrophysiological study has been carried out on 6 leukaemic children during the treatment with vincristine. The Authors emphasize: 1) in the vincristine neuropathy the motor and sensitive fibres are initially affected in the distal segments with subsequent centripetal discussion, this agrees with the neuropathological picture characterized by distal axonal degeneration with processes dying-back type; 2) there is a relationship between dose-duration of the treatment and neurotoxic effects.

Child↗
PubMedDate not supplied

[Neurological complications of Mycoplasma pneumoniae infection. Description of a case of meningitis with clear cerebrospinal fluid].

Mycoplasma pneumoniae (M.p.) is generally responsible of upper and lower respiratory tract infections in children in school age; in about 2% of cases can be also considered the cause of a NS infection: meningitis, encephalitis, cerebellitis, transverse myelitis and ascending polyradiculitis. The authors describe a case of meningitis following an acute otitis media in a 6 years old child. This patient presented also a fourfold or greater decrease in titer of complement fixing antibodies to M.p. The authors suggest a systematic research of M.p. in patients with clear CSF meningitis.

Acute Disease↗
PubMedDate not supplied

[Chronic normocalcemic constitutional tetany: clinic and etiopathogenic aspects. Description of a case].

Tetany is a state of hyperexcitability of the central and peripheral nervous system due to abnormal concentrations of serum electrolytes. However tetanic individuals without any detectable abnormalities, are also encountered. This last condition has been named "chronic normocalcemic tetany or spasmophilia". The case here reported, allows the authors to review the literature concerning normocalcemic tetany and let them focus on two similar and sometimes overlapping entities, spasmophilia and hyperventilation syndrome, both common causes of recurrent, atypical symptoms and tetany.

Calcium↗
PubMedDate not supplied

[Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].

The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.

Child, Preschool↗