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Biomedical subjects

J Milot

Publications and source records attributed to J Milot.

49 records · Page 3Linked to original sources
PubMed1979

Congenital miosis.

The inheritance of congenital miosis in 2 pedigrees is described. The inheritance was autosomal dominant in one and autosomal recessive in the other. The pupils were 0.5-2.5 mm diameter, reacted normally to light and accommodation but dilated poorly with mydriatics. In both pedigrees, the affected members had enlarged corneas. The five members in the autosomal dominant family were myopic and had translucent peripheral irides. Iridodonesis was presented in both members of the autosomal recessive pedigree. The embryology and innervation of the iris muscles together with the ocular abnormalities and syndromes associated with congenital miosis are reviewed.

Adult↗
PubMed1975

Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome.

Four boys with facial-digital-genital or Aarskog syndrome were whort with triangular faces, characteristic deformities of the hands and feet, and anomalies of the external genitalia. The syndrome appears to be inherited in an X-chromosomes-limked recessive manner. Previous reports emphasized the presence of hypertelorism but careful measurements of the interorbital dimensions revealed primary telecanthus in addition to hypertelorism. The palpebral fissures had a marked antimongoloid obliquity and in half the reported cases, there was unilateral or bilateral congenital blepharoptosis. Strabismus, hyperopic astigmatism, and large corneas may be additional features.

Abnormalities, Multiple↗
PubMedDate not supplied

On- and off-responses in the photopic electroretinogram in complete-type congenital stationary night blindness.

We examined the on- and off-responses of the photopic electroretinogram in patients with complete congenital stationary night blindness. Standard flash electroretinograms as well as those produced in a ganzfeld modified for long-duration light stimuli (500 msec) permitted the separation of on- and off-responses in four patients and four normal subjects. The amplitude and latency of the elctroretinogram on-response (a- and b-waves) and off-response (d-wave) in addition to the oscillatory potentials of the off-response in normal subjects and patients were compared. The abnormal on-response was demonstrated in all the patients, and the off-response with its oscillatory potentials were preserved. We showed that the second portion of the off-response (of inner retinal origin) is normal. If congenital stationary night blindness is a defect of depolarizing bipolar cells, these results preclude input of the depolarizing bipolar cells and support the hyperpolarizing bipolar cells as the cellular origin of the off-response electroretinogram.

Adolescent↗
PubMedDate not supplied

Differential modulation of carbonic anhydrase (CA III) in slow- and fast-twitch skeletal muscles of rat following denervation and reinnervation.

Carbonic anhydrase III (CA III) is influenced by neuronal factors in skeletal muscles of the rat. CA III protein and its mRNA levels were assessed in slow- and fast-twitch muscles after short-term denervation by ligature of the sciatic nerve and reinnervation following removal of the sheath tightly fixed around the nerve. Significant elevations in the CA III mRNA content of fast-twitch muscles were recorded after denervation, but they were cancelled following spontaneous muscle reinnervation. No such variations were observed in the slow-twitch soleus muscle. CA III specific activity or cytosolic CA III protein content increased in both types of muscles after denervation, while a decrease was solely observed in the soleus after reinnervation. These results suggest that neuronal mediators may be responsible for up and down variations in CA III gene expression and (or) mRNA stability in slow- and fast-twitch muscles exposed to identical stimuli. Variations of the mRNA and the protein probably reflect, in a time-related manner, the well-programmed changes in fiber type of the muscles in the context of the denervation-reinnervation model.

Animals↗
PubMedDate not supplied

[The mortality associated with asthma in Québec 1975-1985].

In the last decade, mortality from asthma has increased in most industrialized countries. The analysis of death certificates from 1975 to 1985 for the province of Québec shows a 28.6% increase in deaths associated with asthma, from 1.43 to 1.84 per 100,000 population. Although the mortality rate from asthma is higher in older patients, a steady increase in mortality rates from asthma have been observed in younger asthmatics (less than 35 years old), with rates going from 0.24 to 0.37 per 100,000. The number of deaths has recently increased more rapidly in women and is not different in rural and urban areas. On the other hand, the number of asthma-related hospitalisations has been stable from 1980 to 1985. This increase in mortality from asthma has been considered multifactorial but stresses the importance of improving asthma control. Proposed solutions to improve this situation, such as patient education on asthma and its treatment, regular measurement of expiratory flows, identification of "at-risk" patients and optimization of the treatment are discussed.

Adolescent↗