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[CNS disorders caused by metabolic disorders].

A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus, dyspnea, convulsion, coma and so on, and these are not specific to each disorder. However, such symptoms or signs as described below have often intimate relation to metabolic disorders: (1) previous children died of undetermined causes during early infancy; (2) complication of sepsis; (3) onset in the early neonatal period; (4) developmental and growth retardation. When newborns and infants have these symptoms or signs, we should start simple screening studies immediately for metabolic disorders, including CBC, hepatic function tests, blood glucose, lactate, pyruvate, ketone bodies, ammonia, blood gas analysis, urinalysis (including non-glucose reducing substance tests and FeCl3 reaction) and so on. As for CBC, we have to make our own effort to find spherocytosis and vacuoles in lymphocytes. Family history, especially the mother's personal history, is indispensable. During physical examinations, we must pay attention to facial appearance, skin color, macroglossia, hair abnormalities, peculiar odor of the urine and hepatosplenomegaly. When abnormality is found in these clinical signs or simple laboratory examinations, we should not hesitate to start dietary treatment even if special examinations for differential diagnosis are on the way.

Blood Gas Analysis↗

[An analysis of the distribution of clone cells in the retinal pigment epithelium from chimeric mice].

The quantity of pigmented and unpigmented cells was estimated in the retinal pigment epithelium (RPE) in ten newborn and five 20-days old aggregated chimaeric mice C/C----c/c. A strong correlation was shown in the proportion of cells of the paternal genotypes either in the whole RPE of right and left eyes or in its separate regions, i.e. dorsal, central, ventral. Random distribution was revealed in these RPE cells clones. A high correlation was shown between the number of RPE pigmented cells and percentage of coat pigmentation.

Animals↗

Coat colour phenotype, leucopenia, and insulin-dependent diabetes mellitus (IDDM) in BB rats.

Susceptibility to IDDM in BB rats is linked to the MHC and to one or two non-MHC genes. It is postulated that one of the non-MHC genes is leucopenia inherited as autosomal recessive trait which is, at least in part, due to the absence of RT6.1 T lymphocyte subsets. Because the RT6 alloantigenic system is located near the coat colour gene c, we analyzed the coat colour genes of BB rats by production of F1 and F2 hybrids by crossing of three diabetic and leucopenic BB/OK females (RT1u) with one diabetes-resistant and non-leucopenia DA male (RT1av1) genetically defined by the coat colour genotype AABBCCHH. The coat colour phenotype and the RT1.A haplotype were determined in all 144 F2 hybrids. Furthermore, PMNL, body weight gain and plasma glucose were monitored up to an age of 30 weeks of life. At an age of 30 weeks the pancreatic insulin content was determined. The results let us assume that, (a) the coat colour genotype of BB/OK rats is defined as aaBBcchh, (b) the RT6 locus is not responsible for the leucopenia in BB/OK rats and (c) there is a third gene in the diabetes development of BB/OK rats which is probably not linked to one of the coat colour genes.

Animals↗

Tryptophan, copper and zinc in hair of healthy subjects. Correlation with differences in hair pigmentation.

Tryptophan, copper and zinc levels were determined in the hair of 300 healthy subjects divided by sex, age and hair colour. Sex influences tryptophan content in hair, the levels of this amino acid being higher in males than in females. Tryptophan is also higher in infancy (2-5 years) and in both males and females aging around 80 years and over. Hair colour also influences tryptophan levels, which increase from fair to black hair. Copper levels are similar in hair of both males and females, while those of zinc are higher in women. Age influences the distribution of these two metals in human hair. Copper contents in hair of males are higher at the age 20-40 years. In females, values decrease over the age of 60 years. Instead, zinc levels are higher between 20 and 60 years in males, and between 13 and 19 years in females. As regards hair colour, copper is slightly higher in black hair in males and in fair hair in females, and lower in white hair in both sexes. Zinc values appear to be higher in red and lower in white hair in males. In females they are higher in black hair.

Adolescent↗

Melanocytotoxicity and antimelanoma effects of phenolic amine compounds in mice in vivo.

A phenolic amine compound, 4-S-cysteaminylphenol (4-S-CAP), is a potent depigmenting agent. To develop more efficacious antimelanoma agents, we synthesized four homologues of 4-S-CAP: N-acetyl-4-S-CAP (N-Ac-4-S-CAP), alpha-methyl-4-S-CAP, 4-S-homo-CAP, and N,N'-dimethyl-4-S-CAP. We tested these five compounds in mice in vivo. After s.c. or i.p. injection of saline solution (in control groups) or one of the compounds, follicular melanocytes were examined by light and electron microscopy to assess the degree of melanocytotoxicity; N-Ac-4-S-CAP induced the most depigmentation (98%), whether given i.p. or s.c. After injection of 4-S-CAP or N-Ac-4-S-CAP, the number of murine B16F10 melanoma colonies formed in the lungs was determined; 4-S-CAP and N-Ac-4-S-CAP were almost equally effective, reducing the colonies to 32 and 25% of mean control, respectively. Metabolic studies of the urine showed 9% of 4-S-CAP and 20% of N-Ac-4-S-CAP injected i.p. were excreted unchanged in 24 h; 1.3% of the N-Ac-4-S-CAP was excreted as 4-S-CAP, indicating some conversion. We conclude that N-Ac-4-S-CAP is a suitable model for developing chemotherapy to treat melanoma characterized by high tyrosinase activity and melanin synthesis.

Animals↗

The aging skin.

The anatomic, biochemical, and physical changes occurring in the skin with aging are reviewed and discussed. An attempt is made to distinguish between changes resulting from accumulated injury from environmental factors and the changes of aging per se.

Adolescent↗

Red scalp hair turning dark-brown at 50 years of age.

We report on a man whose scalp hair was reddish since childhood but changed into dark-brown after the age of 50. His pubic hair and beard remained carrot coloured. A high level of arsenic in his scalp hair seemed to be a possible cause of the change from pheomelanogenesis to eumelanogenesis.

Arsenic↗

Copper.

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Chelating Agents↗

[Brown hair and nail discoloration by water containing iron].

A 24-year-old patient who was otherwise in good health noticed an increasing brown discoloration of all her nails and her previously fair hair 7 weeks before consultation. On investigation it could be found that the patient used water with a high iron content for washing. A high iron content was detected in the discolored parts of the hair.

Adult↗

[Morpho-physiological study of the inhibitory effect of modifier genes on melanogenesis in the ontogenesis of sheep of the Tadzhik breed].

The suppressing effect on melanogenesis of genes determining high wool productivity in domestic sheep has been discussed for the first time. Morpho-physiological mechanism of suppression of the activity of pigment cells function in lambs of Tajik breed was shown: melanocytes lose their activity during some weeks-months after birth and migrate from the zone of usual localization on follicle papilla into forming hair. The result of genes-modificators' action (the period of postembryonic development, when white wool starts growing) is determined by their interaction with alleles of genes A and E: the lower intensity of melanogenesis, the earlier and more effective the inhibitory effect of genes-modificators. Some factors which suppress pigmentation are characterized: these are an increase in SH groups content, deficiency of tyrosine, rise in growth rate and reduction of the diameter of hairs, intensification of antagonism between melanocytes and keratinocytes. The problem is also interesting in evolutional aspect: since suppression of melanogenesis in the process of creating wooly sheep illustrates possible mechanisms of inhibition of one function, because of hyperfunction of other, such negative correlations could play significant role in evolution of organisms.

Alleles↗

[Endocrinological reactions following UV A whole body irradiation].

The basal secretion of proteo-hormones alpha-MSH and ACTH in plasma as well as the changes of the plasma concentrations following UV A-whole-body irradiation were investigated on 40 young male volunteers with different pigmentation levels (Caucasians: skin types I, II, III. Blacks: skin type VI). Significantly lower mean basic values of alpha-MSH and ACTH of light-haired persons in comparison with dark-haired and black persons (p less than 0,05) were demonstrated. We observed furthermore a significant increase of these proteo-hormones (alpha-MSH: skin type I: 26,7%, skin type II: 22,7%) in persons less pigmented within a short time after UV A whole-body irradiation in contrast to the more pigmented volunteers. These results prove a cutaneous peripheral sensor for UV A-rays, reacting with a different sensitivity depending on disposition and inducing endocrinological reactions. How this cutaneous-hypothalamic-pituitary stimulus mediation functions in detail is not completely revealed up to now. In what respect the present results, which can be explained as a consequence of evolutionary development, have a connection with the induction of melanoma remains to be seen.

Adrenocorticotropic Hormone↗