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Biomedical subjects

M P Smacchia

Publications and source records attributed to M P Smacchia.

3 recordsLinked to original sources

Down syndrome with unusual chromosome translocation: case report and review.

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

Chromosomes, Human, Pair 21↗

[Spondylitis in infancy. A case report].

The authors report on a case of a spondylodiskitis in three year old child. Diskitis is an inflammatory process of the intervertebral disk space, not often described in pediatric age. The etiology is infective and generally presents with lumbar spine localization. Clinically it is characterized by lumbar pain at times radiating to a lower extremity. Symptoms are aspecific and radiological signs do not appear for several weeks after the onset of symptoms. Interest in this pathology derives from the fact that it may be more common than previously recognized. This case offered us the opportunity to review principal symptoms of diskitis and to describe the main diagnostic technics used.

Child, Preschool↗

[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↗