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Biomedical subjects

R Mariani

Publications and source records attributed to R Mariani.

At least 109 records · Page 6Linked to original sources
PubMed1982

[Adaptation of the oral dosage of theophylline to the asthmatic child. Value of a kinetic test by the intravenous route].

The authors propose a practical method for determining chronic oral theophylline dosage in children from slow intravenous theophylline infusion (45 minutes). Calculated clearances and half lifes provided a basis for daily oral theophylline doses and dosing intervals. Pharmacokinetic characteristics (mean +/- SD) in 34 asthmatic children (age range 2-14 years) averaged 0.082 +/- 0.028 l/kg/h for Cl; 0.436 +/- 0.087 l/kg for Vd; 4.07 +/- 1.43 h for t 1/2. Calculated daily dosages necessary to maintain mean serum theophylline concentration of 12.5 mg/l ranged from 9.6 to 40.9 mg/kg/d (average 24.5 mg/kg/d). The validity of proposed dosage schedules is studied in 11 children (among the 34 patients) undergoing a chronic theophylline treatment either with rapid absorption products, or sustained-release form. The difference between predicted and effective serum concentrations was within +/- 1.8 mg/l in all cases.

Administration, Oral↗
PubMed1981

Arthrogryposis-like signs in trisomy 18.

Two cases of newborn male infants afflicted with trisomy 18 and with signs of arthrogryposis multiplex congenita (AMC) are described. Anomalies occurring in most cases of trisomy 18 such as polyhydramnios, reduced foetal activity, and skeletal muscle hypoplasia decrease articular movements and, thus might cause AMC. Since AMC is rarely associated with trisomy 18, chromosomal aberration is not the only factor involved in these cases.

Arthrogryposis↗
PubMed1981

[Late cutaneous porphyria in a child with Down's syndrome (author's transl)].

The authors report the case of a patent form of cutaneous or late porphyria in a 4 1/2 year-old child with a reduced activity of the erythrocyte uroporphyrinogene decarboxylase (URO D). This genetically transmitted disease (the father having the same enzyme defect) only appears after the occurrence of an external factor, usually alcohol and estrogens, rarely acute hepatitis with the presence of HAV antibodies as in this case of Down's syndrome. The same clinical picture may be accompanied by various hepatic lesions and, occasionally, by a deficiency of erythrocyte URO D. This justifies that one distinguish generalized familial forms from sporadic forms with exclusive hepatic involvement.

Child, Preschool↗
PubMed1981

[Monosomy 7qter (author's transl)].

A terminal deletion of the long arm of chromosome 7 is identified in a boy observed from birth to age 6 months. Eleven previously reported cases were reviewed. Eleven previously reported cases were reviewed. The most common features are microcephaly with brachycephaly, prominent forehead, large ears, a nose with bulbous tip, overlapping toes, genital abnormalities in the males and excess of subcutaneous tissue. Delayed mental and physical development is a general rule but visceral malformations seem uncommon.

Abnormalities, Multiple↗