Biomedical subjects
Publications and source records attributed to M Vidailhet.
The case of a 1 month-old boy with a severe form of Thomsen-Becker myotonia is reported. Resistance to regular antimyotonic treatment over a 3 month-period of time led to use mexiletine, an antiarrhythmic drug. This treatment was responsible for a dramatic clinical and electromyographic improvement. No adverse effect has been observed over a 16 month-period of continuous treatment.
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The isoprotein pattern of semi-purified R binder (an acidic glycoprotein which binds cobalamin) from saliva and sera of 8 cystic fibrosis patients was compared to that of R binder from samples of 5 healthy children. In cases of cystic fibrosis, the mean isoelectric point of salivary R binder was increased from 3.78 up to 4.34 and its microheterogeneity was reduced. These significant physicochemical modifications were not observed with R binder from cystic fibrosis sera and they did not correlate with the beta-galactosidase, alpha-mannosidase, alpha-L-fucosidase nor neuraminidase activity of saliva. We propose the R binder as a model molecule to study the glycoprotein metabolism in cystic fibrosis since it contains 30-40% carbohydrate, is easily complexed with cyano[57Co]cobalamin and is present in most tissues and fluids of the human organism.
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A malabsorption of crystalline labelled cobalamin is observed in 100% of cystic fibrosis patients. Using radioisotope dilution assays and molecular sieve gel chromatography, we determined the serum concentration and the faecal excretion of cobalamin and cobalamin analogues in nine cystic fibrosis children before and after 4 days' interruption of pancreatic extract treatment. On chromatography, the unsaturated cobalamin binders of the faecal extracts eluted in two positions with molecular masses of 44 300 and 20 300, corresponding mostly to partially degraded R binders. The amounts of the less degraded form of R binder (molecular mass 44 300) increased significantly after interruption of the treatment. The cobalamin concentration in the serum remained normal after interruption of the treatment but the analogue concentrations in the serum decreased and faecal excretion of cobalamin and analogues increased significantly. These results allowed us to suggest that (1) pancreatic insufficiency in cystic fibrosis is responsible for a decrease in the absorption of digestive analogues induced by a defective degradation of R binders, and (2) cobalamin analogues have a short half-life in blood.
The authors describe the main patterns of the calcifications of the liver and present the different causes which are numerous. Value of the radiological procedures, mainly ultrasound and computer tomography is emphasized. They are necessary for the diagnosis of the type of calcifications and of the disease of the patient.
Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
Two cases of pheochromocytomas in multiple locations are described. In the first case, a 5-year-old girl had surgery for a pheochromocytoma that was nonsecreting but had obstructed the renal artery. Ten years later, hypertension recurred and 2 adrenal pheochromocytomas, one on the left and one on the right side, were discovered. In addition, a papillary angioma was present in the fundus of the right eye, which indicated a phacomatosis. The child was cured. In the second case, another 5-year-old girl had a secreting pheochromocytoma in the upper thoracic region. Six months after extirpation of the tumour, a second pheochromocytoma was found in the right adrenal gland. These findings indicate 4 points of interest: 1. The thoracic localization. This prompted a review of all the available literature with the conclusion that this form of tumour is extremely rare. 2. The association of a pheochromocytoma and renal arterial stenosis. This has been observed by a number of other authors as well. 3. The coincidence of a pheochromocytoma as part of a phacomatosis and pheochromocytomas associated with Sipple's syndrome. 4. The multiple tumour sites. The necessity of generalized examinations in patients with pheochromocytomas to determine the presence of a phacomatosis or Sipple's syndrome is apparent.
Ten cases of boys without testis are presented. Clinical and anatomical patterns of the disease are analysed. Total absence of testicular tissue is proven by the lack of plasma testosterone response to HCG stimulation and by cautious surgical investigation. Artificial virilization by prolonged androgen administration associated with silastic prothesis implantation is the only possibility of treatment. Anorchism does not represent a form of gonadal dysgenesis or sexual ambiguity since external genitalia are always non ambiguous, chromosomal constitution is XY without any structural anomaly of Y and H-Y histocompatibility antigen is present. Absence or destruction of the testis are caused by different mechanisms, according to the data obtained by individual case studies. The most likely is that foetal testes developped normally are destroyed in utero or in the perinatal period or even soon after birth. The most frequent mechanism with a genetic predisposition, seems to be bilateral pedicle twisting.
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The palate of the frog possess a pseudostratified epithelium with mucus secreting cells and numerous ciliated cells covered with a continuous mucus blanket of 4 to 8 micron thickness. This palate can be used as a simple model for studying mucus transport and giving rapid information on the transportability of pathological bronchial secretion by the ciliary mechanism. The analysis of the relationship between the rheological properties of sputum an their transport rates on the frog palate showed that the highest transport rates were obtained with sputum samples characterized by a high spinability (Sp greater than 70 mm) and an intermediate range of viscosity (25-180 P) and elasticity (SR = 4-12 units). The mucociliary frequency (Fm) of the frog palate was measured by a photoelectric method and analyzed as a distribution function of the ciliary frequencies by the Fast Fourier Transform method. Fm decreased significantly after mucus depletion and was restored when adding a drop of frog mucus collected on a freshly excised frog palate. On the other hand, it remained about 20% lower than the original predepleted value, when adding purulent sputum collected in patients with chronic bronchitis and cystic fibrosis. The frog palate appears as a valuable model for analyzing the mucociliary transport rate and also for studying the effect of pathological secretions on the ciliary beating frequency.
A method is described for the extraction of urinary organic acids in children, their conversion to TMS and oxime TMS derivatives and their separation by gas liquid chromatography on a packed column of 10% OV 101. The compounds are identified by mass spectrometry. Profiles of urinary organic acids in normal neonates and in several metabolic disorders are presented.
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The authors report a 5 year-old child in whom lesions of the inferior metaphyses of the femur and superior metaphyses of the tibia were observed after successive pheochromocytomas. The aspect of the lesions, their improvement after surgical treatment of the tumors, the data in the literature and histologic findings suggest that a bone ischemia was induced by impaired microcirculation with infarction of the metaphyses.
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