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Biomedical subjects

M C Tozzi

Publications and source records attributed to M C Tozzi.

26 records · Page 2Linked to original sources

[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report].

Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.

Chromosome Aberrations↗

[Extrapyramidal type collateral effects of the administration of metoclopramide to children].

Metoclopramide (M.) is a neurolectic drug used with good results in digestive tracts disorders. Even in minimum doses Metoclopramide may cause side effects to children. The most frequent are: localized hypertonia, oculogyric fits, trismus, cervical, oral and lingual dyskinesias, tremors and agitations. Symptoms seem to be serious but it is sufficient to stop the cure that all signs fade away. Manufactures show three personal side-effects' remarks by M. and advise to administer the drug to children with more caution since they are very sensitive to the substance.

Adolescent↗

[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↗

[Trisomy 18 with unusual clinical and chromosome features].

The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.

Abnormalities, Multiple↗

[Hypoplasia of the renal artery as a cause of renovascular hypertension. A case report].

The authors report the case of an 8-year-old Libyan boy who presented with hypertension, episodes of vomiting and headaches during the past year. Routine blood tests, including nitrogen and urea clearances, were normal; an ultrasound scan and a urography demonstrated a left kidney smaller than the right. Further tests were carried out to evaluate the morphology and the function of the kidney; a scintigraphy confirmed the hypoplasia of the left kidney with reduction of the glomerular filtration rate. The arteriography of the abdominal aorta was decisive, confirming not only the hypoplasia of the left kidney, but also the presence of a hypoplasic renal artery. The latter appeared to be uniformly hypoplasic, with no signs of segmentary stenosis. This fact suggested the hypothesis of renovascular hypertension caused by a hypoplasia of the renal artery. The medical treatment with enalapril gave good results, with normalization of the pressure levels after 5 days of administration. However, only nephrectomy is able to give excellent long-term results.

Child↗

A case of pediatric systemic lupus erythematosus with early onset and unusual serologic and clinical findings.

The authors report on a case of Pediatric Systemic Lupus Erythematosus (SLE) in a female child aged 3 1/2 with a set of peculiar clinical and serologic characteristics; early onset of the disease, non-specific clinical signs, high serum levels of IgG and a clinical course characterized by the absence of renal neurological and articular involvement.

Child, Preschool↗