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PubMed1987

Hypopigmentation in the Prader-Willi syndrome.

Cutaneous and ocular pigmentation were evaluated in 29 individuals with the Prader-Willi syndrome (PWS). Criteria for hypopigmentation included the presence of type I or II skin, the lightest skin type in the family by history, and iris translucency on globe transillumination. On the basis of these criteria, 48% of the PWS individuals were hypopigmented. The presence of hypopigmentation correlated with a small interstitial deletion on the proximal long arm of chromosome 15; however, this deletion was also found in individuals who did not meet the full criteria for hypopigmentation. Hairbulb tyrosinase activity and glutathione content, as well as urine cysteinyldopa excretion, were low in PWS individuals with and without hypopigmentation and did not separate these two groups. We conclude that hypopigmentation is found in a significant proportion of individuals with PWS and that the hypopigmentation may be associated with a deletion of the long arm of chromosome 15. The mechanism for the hypopigmentation is unknown.

Chromosome Deletion↗
PubMedDate not supplied

[Various anthropologic characteristics of patients with myasthenia gravis].

The anthropologic examination comprised: somatic measurements, cephalic measurements, determination of the pigmentation of the eyes and hair of women with myasthenia. The studied group was living in the towns of Lower Silesia and it included 47 myasthenic women and 67 healthy ones aged from 24 to 45 years. In 36 patients the HLA antigens were determined. The examination showed significant differences in the proportions of the body and head and in the pigmentation of eyes and hair between both these groups. The haplotypes HLA-B8, HLA-DR3 and HLA-A1 were significantly more frequent in the group of patients.

Adult↗
PubMed1987

[Demonstration of a correlation between the degree of pigmentation and the power of inactivation of isoniazid in man].

In a group of 153 white subjects treated for tubercle, individual determinations were made of: a) The power of inactivation of isoniazid. b) The degree of pigmentation (iris, skin, hair) assessed by a weighted pigmented index of the iris. A statistical study of the results shows the clear existence of a narrow positive correlation between these two characters, such that the more pigmented a subject is, the greater is the chance of rapid inactivation of isoniazid. An attempt at a biochemical explanation is proposed. The results in the world literature (Japanese, Swedish, American) are in keeping with these observations. Thus, weakly pigmented tuberculous patients are potentially a new group at risk from anti-TB drugs.

Eye Color↗
PubMed1985

Doyne lecture. Heterochromic iridocyclitis.

Fuchs' heterochromic iridocyclitis is a rare but significant cause of visual impairment. This form of uveitis is misdiagnosed more than any other in the entire field of uveitis. This is particularly true among brown-eyed individuals in whom gross heterochromia may not be diagnosed for many years. The clinical presentation of Fuchs' heterochromic iridocyclitis may include a number of generally unrecognised variants among which are Koeppe nodules, transient synechia formations, and blood-filled cysts. Recently the relationship of heterochromic iridocyclitis to posterior inflammatory lesions, such as those of toxoplasmosis, has been explored. Although the disease was once thought to be a degenerative or trophic disorder, current investigations reveal that it is a true inflammation of immunologic origin. The disorder may be related to a depression of suppressor T-cell activity. The aetiology of the disease is still obscure, but in some cases an association with simple heterochromia has been found among families in whom multiple members are affected by either simple heterochromia or Fuchs' heterochromic iridocyclitis. Corticosteroid treatment of Fuchs' heterochromic iridocyclitis is not effective and should be reserved for those patients in whom inflammatory products obstruct the visual axis. Most patients should be treated by observation alone. Cataract and glaucoma are the most important complications. Treatment of the glaucoma is particularly difficult and often unsuccessful.

Adrenal Cortex Hormones↗
PubMed1985

Power of isoniazid acetylation and pigmentation; first experimental tests in the rabbit: comparison with clinical data.

A positive correlation has been observed clinically at the Centre Edouard Rist, Paris, between the degree of pigmentation and the power of isoniazid acetylation in so-called "caucasians". The investigation was based on a relatively small sample of 153 observations, but sufficient to allow a significant statistical analysis. Comparing the results with data published in the literature, it may be assumed that this relationship between the power of acetylation and pigmentation would be applicable to all human beings. The rabbit, having as in man a bi-modal distribution of the power of acetylation, was used for further research of this correlation in that animal. The results of this research in rabbits may be compared with those in man, but further studies are required in view of the interest of this comparison and of the possible consequences of the relationship of pigmentation and the degree of acetylation of isoniazid in human therapeutics.

Acetylation↗
PubMedDate not supplied

Pupil cycle time.

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Adolescent↗