Biomedical subjects
Publications and source records attributed to A Bartolomeo-De Iuri.
Administration of warfarin during pregnancy may cause a rare syndrome characterized by nasal hypoplasia, usually associated with stippled epiphyseal and extraepiphyseal calcifications resembling chondrodysplasia punctata. A case of chondrodysplasia punctata after warfarin with 18 months follow-up is reported.
Intestinal malrotation and Hirschsprung's disease may be associated with other congenital anomalies. However, the association of Hirschsprung's disease with intestinal malrotation has been recently pointed out and sporadic cases are reported in the literature. We describe a case of such an association in a baby with asymptomatic malrotation and emphasize the diagnostic implications.
Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive multisystem disease which affects the eye, the cardiovascular system, the central nervous system, the skeleton and occasionally other organs. Archibald's metacarpal sign and Kosowicz's phalangeal sign were evaluated in 11 patients with homocystinuria. A short fourth metacarpal was demonstrated in four patients. Our study represents, to our knowledge, the first systematic evaluation of these skeletal signs in a rather large group of homocystinuric patients.
One hundred thirteen children referred for chronic constipation were examined by means of diagnostic work-up including anal inspection, rectal exploration, weekly bowel frequency evaluation, measurement of total and segmental intestinal transit times (TITT, SITT), contrast enema, anorectal manometry (ARM), suction rectal biopsy for histochemistry. Final diagnosis were: chronic functional "simple" constipation in 53 children; chronic functional constipation and soiling in 32; Hirschsprung's disease in 18. In 10 children, initially referred for constipation, TITT was in the normal range so they underwent no further examination. Conclusions are that bowel frequency identifies a real gastrointestinal problem, but definite diagnosis of constipation is relied on TITT. In the assessment of chronic constipation nature, ARM is more sensitive than radiology. Suction rectal biopsy is reliable in detection of aganglionosis: its accuracy can be improved by histochemical or biochemical determination of Acetylcholinoesterase.
Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive error of sulphur amino acid metabolism characterized clinically by lens dislocation, mental retardation, skeletal abnormalities and thromboembolic phenomena. We have evaluated roentgenologically our series of 12 pediatric homocystinuric patients to detect skeletal abnormalities. Bone changes are widespread and occur mainly in dorsolumbar spine and in epi-metaphyseal growth areas. Osteoporosis is the most important finding. Dolichostenomelia and arachnodactily are relatively common. Calcific spicules occur frequently in the wrist physes.
The authors studied 52 patients aged from 1 month to 8 years with symptoms consistent with gastro-esophageal reflux and esophagitis. The employed methods were radiological examination, esophageal manometry, acid reflux test, endoscopy. The gastro-esophageal reflux was diagnosed in 38 children. The authors compare the results of radiological examination to those of the other methods. The analysis of the results led the authors to believe that the association of every methods is necessary to define the diagnostic picture. However, the authors emphasize that the conventional X-rays examination is the first stage that cannot be substituted in the management of children with non acute gastro-esophageal disease.
The authors, after a review of few works found in literature, report 33 cases of urethro-vaginal reflux in girls. They analyse the radiological and clinical aspects of this phenomenon that can be considered as border line. Finally the authors point out that the urine collected through urine specimen collector could be contaminated by vaginal bacteria in connection with urethro-vaginal reflux.