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Biomedical subjects

C Bonte

Publications and source records attributed to C Bonte.

At least 19 recordsLinked to original sources

Fundus changes in patients with the mitochondrial DNA point mutation at position 3243.

The A3243G transition in the mitochondrial DNA is commonly associated with the syndrome of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Previously, atypical pigmentary retinopathy has been described in patients with this syndrome and in patients with other phenotypes of the same mitochondrial defect. Maternally inherited diabetes mellitus and deafness has been recognized as a distinct clinical presentation of the mitochondrial point mutation at position 3243, and recently a pattern dystrophy has been identified as a characteristic ocular abnormality in these patients. The finding of a macular pattern dystrophy in patients with diabetes should therefore lead to screening for this aberrant mitochondrial genome.

Adult↗

[Acute spinal amyotrophy in toxoplasmosis].

A 19 year-old man developed an acute syndrome of the anterior horn of cervical spinal cord during a primo-infection with toxoplasma. The neurological syndrome was completely regressive after treatment with 1 600 mg/day of trimethoprim-sulfamethoxazole for three months.

Acute Disease↗

[Fronto-nasal dysplasia (apropos of 4 cases)].

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.

Abnormalities, Multiple↗

A field study of the validity of static paper sampling in fluoride pollution surveys.

A field study of fluoride pollution and of its consequences was made over a period of five years in the vicinity of an alumina reduction plant. This study, based upon the use of a static soda impregnated paper sampler, shows that the results obtained are in good agreement with the atmospheric fluoride concentrations obtained with dynamic samplers, especially when fluoride is present in gaseous form (HF). The results suggest that vertically mounted paper samplers are less sensitive to the collection of particulate fluorides. Collection rate is strongly influenced and increases with speed. If this parameter is known, an accurate estimation of the absolute atmospheric concentration is possible; the values shown by this technique are in good correlation with the value (annual mean) of pasture fluoride content. As a correlation exists between pasture fluoride content and the symptoms shown by cattle, the static filter samplers can predict disease in the case of slow chronic fluorosis. The field study agrees with earlier laboratory experiments and shows the validity of these simple and inexpensive types of exposure methods.

Air Pollutants↗