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Biomedical subjects

P De Beer

Publications and source records attributed to P De Beer.

7 recordsLinked to original sources
PubMed1996

Cenani-Lenz syndrome in father and daughter.

We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.

Child, Preschool↗
PubMed1990

[Distal hyperirrigation syndrome. Clinical and physiopathological aspects].

In this retrospective study, distal hyperirrigation syndrome was identified by "irrigraphy", a functional exploration method used to define an irrigation index at various levels of the lower limbs as determined by pulse wave amplitude, heart rare and segmental resistances. In 47 lower limbs studied, there were 26 unequivocal, 14 relative and 7 "masked" hyperirrigations. The main etiology was diabetes (24 limbs), but the syndrome was also noted in cases of peripheral neuropathy and chronic venous insufficiency. There was no basic difference between unequivocal and relative hyperirrigations. Some hyperirrigation states were not apparent in irrigraphy because of arterial lesions on upstream axes. The syndrome was also observed in approximately the same number of cases in insulin-dependent and noninsulin-dependent diabetes. The clinical disorders observed were especially peripheral trophic ones, notably perforating ulcers of the foot or various ulcers. Changes in the irrigraphic profile were followed regularly in 20 limbs. The rise in distal irrigation indices was due to a drop in peripheral resistances related to an abnormal opening up of arteriovenous anastomoses. A state of spontaneous sympathectomy was thus constituted, particularly in diabetic patients. The process was similar in syndromes of neurologic origin and in venous stasis. The mechanism was local, with venous hypertension causing the opening up of arteriovenous shunts. However, microangiopathic lesions must also be taken into account, since they can cause or favor arteriovenous shunting. The opening up of arteriovenous anastomoses is in effect the element common to all syndromes of distal hyperirrigation of various origins.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

[Phlebitis of effort of the lower limb].

Effort phlebitis of the lower extremity is rare but does occur : a patient was seen who suffered sudden swelling of the left leg when he had almost finished unloading a lorry. Phlebography, which was carried out five months later, revealed lesions of the deep veins of the lower leg and of the thigh, in which vascular permeability was in the process of being restored. The hypothesis is advanced that a sudden pronounced rise of the venous pressure had led to the rupture of a valvular perforating vein with secondary formation of a clot.

Accidents, Occupational↗