[Comparative study of two methods permitting the detection of macroamylases. Application to the evaluation of macroamylasemia in a hospitalized population]. / Etude comparative de deux méthodes permettant la détection de macroamylases. Application à l'évaluation d'une macroamylasémie dans une population hospitalière.

It is of great importance to be able to distinguish hyperamylasemia linked to a pathological condition of the pancreas from one due to the presence of the macroamylase in the serum of the patient. We have evaluated both gel filtration chromatography and precipitation by PEG-6000 for the detection of serum macroamylase. Our study has enabled us to define a simple detection protocol, suitable for routine laboratory use. In this protocol, macroamylasemia is detected initially by precipitation with PEG-6000; if less than 60% of amylase activity is precipitated, there is no macroamylasemia. If more than 60% of amylase activity can be precipitated by PEG-6000, macroamylasemia is confirmed by gel filtration chromatography. The incidence of macroamylasemia in hospitalized patients was studied; it was 1.3% in cases where amylasemia was normal, and 4.5% in hyperamylasemic patients.

Intestinal permeability to [51Cr]EDTA in children with Crohn's disease and celiac disease.

[51Cr]EDTA was used as a probe molecule to assess intestinal permeability in 7 healthy control adults, 11 control children, 17 children with Crohn's disease, and 6 children with untreated celiac disease. After subjects fasted overnight, 75 kBq/kg (= 2 microCi/kg) 51Cr-labeled EDTA was given by mouth; 24-h urinary excretion of [51 Cr]EDTA was measured and expressed as a percentage of the total oral dose. Mean and SD were as follows: control adults 1.47 +/- 0.62, control children 1.59 +/- 0.55, and patients with Crohn's disease or celiac disease 5.35 +/- 1.94. The difference between control children and patients was statistically significant (p less than 0.001). These results show that intestinal permeability to [51Cr]EDTA is increased among children with active or inactive Crohn's disease affecting small bowel only or small bowel and colon, and with untreated celiac disease. The [51Cr]EDTA permeability test could facilitate the decision to perform more extensive investigations in children suspected of small bowel disease who have atypical or poor clinical and biological symptomatology.

[Fronto-nasal dysplasia (apropos of 4 cases)]. / La dysplasie fronto-nasale (à propos de quatre observations).

Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment.