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5 years' experience of 5-S-cysteinyldopa in melanoma diagnosis.

Determinations of the urinary excretion of 5-S-cysteinyldopa were performed in 571 patients previously treated by surgery for melanoma or melanoma metastasis. 90% of the 161 patients with metastases showed values exceeding 0.15 mg/24 h, and 9% of the 410 patients without metastases had such values. The increase in 5-S-cysteinyldopa excretion was generally more pronounced in men with metastases than in women, 98% of the men and 77% of the women with metastases showing values exceeding 0.15 mg/24 h. High levels of 5-S-cysteinyldopa are of grave prognostic significan4% died within one month, and only 3% survived for more than a year. In Sweden, determination of 5-S-cysteinyldopa in patients operated on for melanoma gives maximum information in the winter (October--March), when sun exposure does not influence the excretion levels.

Adult↗

[Sunscreen use in an urban Negev population].

The use of sunscreen in the Negev population was assessed. The study population included 1458 subjects, mean age 35.5 +/- 14.2 years, half born in Israel and 25% in East Europe. Two-thirds were exposed to the sun 1-2 hours a day and 13% 4 hours a day or more. Only about 15% used sunscreen while shopping, 69% used it at the beach, and less than half applied it to children being sent to school. Sunscreen use was greater in women (p < 0.000001), especially those with sensitive skin (p < 0.0001) and red hair (p < 0.0001). No significant association was found with age, education or country of birth.

Adolescent↗

Acquired ichthyosis, alopecia and loss of hair pigment associated with leiomyosarcoma.

Acquired ichthyosis is an important clinical finding; internal malignancy, systemic disease and medication are recognised associations. We present a 70-year-old lady with acquired ichthyosis and leiomyosarcoma, one of the less frequently associated malignancies. An additional unusual finding was generalised thinning and loss of pigment affecting her hair. Scalp biopsy showed histological evidence of ichthyosis. Following resection of the tumour the ichthyosis resolved and there was regrowth of darker hair.

Aged↗

Probabilities and human pubic hair comparisons.

By use of a card coding system for some macroscopic and microscopic characteristics of human pubic hairs, 101 368 comparisons were made between 454 hairs from 60 different individuals. Of these, 16 pairs were found to be similar. For a Caucasian population, it is estimated that if one human pubic hair is found to be similar to at least one of a group of six to eleven mutually dissimilar hairs from a given source, the probability that it could have originated from another source is small, about 1 in 800.

Forensic Medicine↗

Persulfate hair bleach reactions. Cutaneous and respiratory manifestations.

Ammonium persulfate is widely used to "boost" peroxide hair bleaches. These persulfates can produce a variety of cutaneous and respiratory responses, including allergic eczematous contact dermatitis, irritant dermatitis, localized edema, generalized urticaria, rhinitis, asthma, and syncope. Some of these reactions appear to be truly allergic while others appear to be due to the release of histamine on a nonallergic basis. Patch tests may be performed with 2% to 5% aqueous solution of ammonium persulfate. Scratch tests may result in asthma and syncope. In some patients, merely rubbing a saturated solution of ammonium persulfate into the skin will evoke a large urticarial wheal. Hairdressers should be made aware that these ammonium persulfate hair bleach preparations may provoke severe reactions and should seek medical attention if the client complains of severe itching, tingling, a burning sensation, hives, dizziness, or weakness.

Adult↗

[Response of adult djungarian hamsters (Phodopus sungorus) to odor signals of species of their own and opposite sex during different seasons with the reference to reproduction process].

Studies were carried out on adult Djungarian hamster (Phodopus sungorus) males living in familial pairs under natural thermal and light regimes year-round. The response of hamsters to the odors of urine, secretory substances of the midabdominal gland and additional saccules in the ostium of cheek pouches, and faeces from conspecific males and females were studied. The results obtained suggest that the odors of urine and also feces play an important role in sexual recognition of individuals. These odors are especially attractive for the males in summer, during the period of active breeding. The tested males examined the odor of the midabdominal gland from individuals of the same sex reliably longer throughout the year, but in winter the interest in this odor was higher than in summer. These secretory substances appear to be important in organization of territorial interactions between individuals. The results of observations on breeding and the data on sex ratio in the broods from pairs with the tested males were compared to similar data obtained earlier for Roborovskii hamsters (Sokolov and Feoktistova, 1996). Similarities and differences were found in the course of breeding in the studied species.

Animal Communication↗

Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice.

'Viable yellow' (Avy/a) mice are larger, obese, hyperinsulinemic, more susceptible to cancer, and, on average, shorter lived than their non-yellow siblings. They are epigenetic mosaics ranging from a yellow phenotype with maximum ectopic agouti overexpression, through a continuum of mottled agouti/yellow phenotypes with partial agouti overexpression, to a pseudoagouti phenotype with minimal ectopic expression. Pseudoagouti Avy/a mice are lean, healthy, and longer lived than their yellow siblings. Here we report that feeding pregnant black a/a dams methyl-supplemented diets alters epigenetic regulation of agouti expression in their offspring, as indicated by increased agouti/black mottling in the direction of the pseudoagouti phenotype. We also present confirmatory evidence that epigenetic phenotypes are maternally heritable. Thus Avy expression, already known to be modulated by imprinting, strain-specific modification, and maternal epigenetic inheritance, is also modulated by maternal diet. These observations suggest, at least in this special case, that maternal dietary supplementation may positively affect health and longevity of the offspring. Therefore, this experimental system should be useful for identifying maternal factors that modulate epigenetic mechanisms, especially DNA methylation, in developing embryos.

5-Methylcytosine↗

The agouti gene product inhibits lipolysis in human adipocytes via a Ca2+-dependent mechanism.

Overexpression of the murine agouti gene results in obesity. The human homologue of agouti is expressed primarily in human adipocytes, and we have shown recombinant agouti protein to increase adipocyte intracellular Ca2+([Ca2+]i) and thereby stimulate lipogenesis. However, since recent data demonstrate that increasing adipocyte [Ca2+]i may also inhibit lipolysis, we have investigated the role of agouti-induced [Ca2+]i increases in regulating lipolysis in human adipocytes. Short-term (1 h) exposure to recombinant agouti (100 nM) protein had no effect on basal lipolysis, although longer term treatment (24 h) caused a 60% decrease in basal lipolysis (P<0.0001). Short-term agouti treatment totally inhibited ACTH-induced lipolysis (P<0.05). Since melanocortin receptors (MCR) are involved in some actions of agouti, we next determined whether agouti's antilipolytic effect is exerted through competitive antagonism of the ACTH receptor (MCR-2). Forskolin (1 microM), an adenylate cyclase activator, induced a 48% increase in lipolysis in human adipocytes (P<0.05); this effect was reversed by 100 nM agouti (P<005), demonstrating that the antilipolytic effect of agouti is distal to the ACTH receptor. To determine the role of [Ca2+]i in the antilipolytic effect of agouti, human adipocytes were treated with KCl or arginine vasopressin to stimulate voltage- and receptor-stimulated Ca2+ influx, respectively. Both agents caused inhibition of forskolin-induced lipolysis (P<0.005). Furthermore, agouti's antilipolytic effect was also blocked by the Ca2+ channel blocker nitrendipine. These data demonstrate that agouti exerts a potent antilipolytic effect in human adipocytes via a Ca2+-dependent mechanism. This effect, combined with agouti-induced lipogenesis, represents a coordinate control of adipocyte lipid metabolism that may contribute to an agouti-induced obesity syndrome.

Adenosine Triphosphate↗

Skin characteristics and risk of superficial spreading and nodular melanoma (United States).

OBJECTIVE: To assess the risk for melanoma associated with moles and pigmentary characteristics. METHODS: Representative melanoma cases (773) among non-Hispanic white residents under age 65 occurring between 1 June 1978 and I December 1983 in Los Angeles County were compared to controls (752) matched to cases by age, sex, race and neighborhood of residence. Factors considered include hair, eye, and skin color; numbers of freckles and moles; and propensity to burn and tan obtained during an in-person interview. RESULTS: Five hundred and fifty-one cases were classified as superficial spreading melanoma (SSM) and 110 as nodular melanoma (NM). For SSM, the important risk determinants were hair and skin color, freckling, and mole prevalence. Light skin and more freckles were found to be more highly associated with SSM for younger compared to older subjects, whereas the associations between SSM and both hair color and moles remained independent of age. NM showed patterns of risk similar to SSM with the exception of skin color. NM showed no evidence of increasing risk with lighter skin, as compared to the strong association seen for SSM. CONCLUSION: Hair and skin color, freckling and, especially, numbers and size of moles are important determinants of melanoma risk.

Adult↗

Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.

Human physical pigmentation is determined by the type and amount of melanin and the process of pigmentation production probably involves more than 100 genes. A failure to synthesize melanin results in oculocutaneous albinism (OCA). A recently identified form of OCA results from mutations in the Membrane Associated Transporter Protein (MATP) gene. The role of MATP in human pigmentation is not clear. We investigated the role of two nonpathogenic nonsynonymous single nucleotide polymorphisms (SNPs) in the MATP gene to determine if they are associated with normal human skin, hair, and eye color variation. A total of 608 individuals from four different population groups (456 Caucasians, 31 Asians, 70 African-Americans, and 51 Australian Aborigines) were genotyped for c.814G>A (p.Glu272Lys) and c.1122C>G (p.Phe374Leu). Results indicate that the allele frequencies of both polymorphisms are significantly different between population groups. The two alleles, 374Leu and 272Lys, are significantly associated with dark hair, skin, and eye color in Caucasians. The odds ratios (ORs) of the LeuLeu genotype for black hair and olive skin are 25.63 and 28.65, respectively, and for the LysLys genotype are 43.23 and 8.27, respectively. The OR for eye color is lower at 3.48 for the LeuLeu and 6.57 for LysLys genotypes. This is the first report of this highly significant association of MATP polymorphisms with normal human pigmentation variation.

Black or African American↗

The melanocortin-1 receptor: red hair and beyond.

Although human pigmentation is genetically complex, to date polymorphism at only 1 locus, the melanocortin-1 receptor (MC1-R), has been associated with physiologic variation in hair and skin color. The MC1-R, a G protein-coupled receptor with 7 transmembrane-spanning domains, plays a key role in determining the type of melanin (eumelanin vs pheomelanin) that is produced within melanocytes. This article begins with an overview of melanocortin receptors, proopiomelanocortin-derived ligands, and the agouti antagonist, with particular focus on their functions in regulating eumelanin and pheomelanin synthesis, including UV-induced melanogenesis. A brief description of mouse-coat-color genetics is then followed by a discussion of human MC1-R variants, which are present in approximately 50% of white populations. We review the increasing evidence that loss-of-function MC1-R mutations largely account for the red hair phenotype in humans (which approximates an autosomal recessive trait) and also have a strong association with fair skin and a decreased ability to tan, with a significant heterozygote effect in individuals without red hair. Finally, we examine recent work showing that loss-of-function MC1-R variants may increase the risk of developing melanoma and nonmelanoma skin cancer beyond their effects on pigmentation phenotype.

Agouti Signaling Protein↗

Analyzing the laser-light reflection from human hair fibers. I. Light components underlying the goniophotometric curves and fiber cuticle angles.

The consumer may repeatedly over the day apply intensive grooming procedures to maintain and improve hair appearance. Among these, brushing and combing are responsible for changes if not damage to the hair fiber surface. Beneficial or unfavorable changes to the hair surface may furthermore result from any cosmetic treatment. The analysis of laser-light reflection and scattering of human hair fibers is a direct, quick, and non-destructive method to monitor such surface changes. The application of a laser-based, multichannel goniophotometer is described, by which this analysis is based on the determination of the complete angular distribution of reflected light within a sub-second time interval. Systematic investigations of hairs differing in ethnic origin and color show that the goniophotometric curves can be analyzed by assuming three fractions of reflected light, namely, specularly, diffusely, and internally reflected light. Prominent effects are related to changes of the relative intensities of the different light fractions with hair color. The angular intensity distribution for each of the light fractions is well described by a Gaussian distribution. The angular positions of the peaks and their widths are analyzed. From the systematic shift of the intensity peak for specularly reflected light from its expectation angle, the tilt angle of the cuticle cells on the hair fiber surface is determined. All results are discussed with respect to changes along the hair length and for color differences.

Female↗

A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and Shorthorn cattle.

The Roan locus is responsible for the coat coloration of Belgian Blue and Shorthorn cattle. The solid-colored and white animals are homozygotes, and the roan animals, with intermingled colored and white hairs, are heterozygous. The roan phenotype was mapped to cattle Chromosome (Chr) 5 with microsatellites, and a candidate gene was proposed (Charlier et al. Mamm Genome 7, 138, 1996). PCR primers to the exons of this candidate gene, the steel locus or mast cell growth factor (MGF) were designed. Solid-colored and white animals were sequenced. A missense mutation at 654 bp (amino acid 193, Ala --> Asp) was detected in these two groups. A PCR-RFLP was designed to this single base pair change, and 143 animals in total (Belgian Blue, Shorthorn, and various other breeds) were screened. In addition, the Canadian Beef Cattle Reference Herd (http://skyway. usask.ca/ approximately schmutz) was used to verify Mendelian inheritance of this marker with the phenotypic inheritance of roan. Our data suggest that this mutation in the bovine MGF gene is responsible for the roan phenotype.

Animals↗

Evidence for eumelanin and pheomelanin producing genotypes in the Arabian horse.

The ultrastructural imaging of melanocytes coupled with analyses to detect sulfur-containing melanosomes by energy-dispersive X-ray spectroscopy were used to test the hypothesis that the yellowish-red and black pigments found in Arabian horses result from pheomelanogenesis and eumelanogenesis, respectively. These procedures detected pheomelanosomes in follicles at the base of hairs in chestnut horses and eumelanosomes in follicles at the base of hairs in black horses. By analyzing tissue obtained by skin biopsy, these procedures also demonstrated that skin melanocytes in a chestnut horse produce eumelanosomes, and follicular melanocytes in the same horse produce pheomelanosomes. It was also shown that the type of follicular melanosome present in light bay horses is correlated with the color of the hair. The results of this study give experimental evidence for the Odriozola-Adalsteinsson hypothesis that the e allele is responsible for the chestnut phenotype; they also give fine structure and chemical confirmation of the action of the A and E loci in the Arabian horse as currently proposed for the mouse and other mammals.

Alleles↗

A photometric study of the color of health gingiva.

An apparatus was developed that was found suitable for measuring gingival color in terms of reflectance at 6328 A. A total of 445 readings were taken on 95 Caucasian subjects in order to determine certain properties of healthy gingival color. It was determined that: 1. Healthy adult gingival color ranged in reflectance from 17% to 45% of the magnesium oxide standard, with a mean of 32%. 2. Gingival color of children was lighter than that of adults. The reflectance of children's gingiva ranged from 31% to 43%, with a mean of 35%. 3. Gingival color did not vary with the sex of the individual. 4. Gingival color was lighter in individuals with blonde hair than in individuals with brown hair. 5. Gingival color was darker in individuals with darker eye color. 6. Gingival color was lighter in individuals with geographic origins that are commonly related to lighter complexions. 7. Gingival color did not vary with age, within the adult range covered in this study. 8. Gingival color did not vary with the following physiological and physical factors: menstrual period, use of oral contraceptives, smoking habits, moistness or dryness of the gingiva, which side was measured, time of day, or time after toothbrushing, smoking a cigarette, eating an apple, or drinking a hot beverage.

Adult↗