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A case-control study of malignant melanoma in Israeli kibbutzim.

BACKGROUND: Incidence rates for malignant melanoma in Israel are rising steadily, and the kibbutz population is at increased risk for this malignancy. OBJECTIVES: To assess the risk factors for malignant melanoma among kibbutz members compared to matched healthy controls. METHODS: We conducted a case-control study of 168 malignant melanoma patients and 325 healthy controls, matched by age and gender. Data were collected on three categories of risk: demographic, personal (e.g., skin, eye and hair color), and environmental/behavioral (e.g., sun exposure, use of sunscreens). RESULTS: There were no differences between the groups regarding sociodemographic data. Significantly more patients than controls had fair, vulnerable skin (P < 0.001), light eyes (P < 0.05), and fair hair (P < 0.001). There was no difference in family history of malignant melanoma or other cancers. Patients with malignant melanoma had significantly more additional skin lesions (e.g., keratoses) (P < 0.001). More patients than controls recalled having been exposed to the sun for long periods when they were 6-13 years of age. A conditional logistic regression analysis showed that fair hair, fair vulnerable skin, and additional skin lesions were independently associated with malignant melanoma (P < 0.01). CONCLUSIONS: The main target population for interventions to reduce the incidence of malignant melanoma among kibbutz members should be individuals with these risk factors. A history of increased exposure to the sun from age 6 to 13 should also be taken into account as an independent risk factor.

Adult↗

Topographical cone photopigment gene expression in deutan-type red-green color vision defects.

Eye donors were identified who had X-chromosome photopigment gene arrays like those of living deuteranomalous men; the arrays contained two genes encoding long-wavelength sensitive (L) pigments as well as genes to encode middle-wavelength sensitive (M) photopigment. Ultrasensitive methods failed to detect the presence of M photopigment mRNA in the retinas of these deutan donors. This provides direct evidence that deuteranomaly is caused by the complete absence of M pigment mRNA. Additionally, for those eyes with mRNA corresponding to two different L-type photopigments, the ratio of mRNA from the first vs. downstream L genes was analyzed across the retinal topography. Results show that the pattern of first relative to downstream L gene expression in the deuteranomalous retina is similar to the pattern of L vs. M gene expression found in normal retinas.

Adolescent↗

[Standardization of color images of the fundus of the eye].

The development of the programs analyzing the image of the fundus of the eye has aroused considerable interest in computer-aided diagnostic tools. At present the majority of such programs is based mainly on the analysis of information of the brightness and color of an image. The paper proposes a procedure for correcting the color images of the fundus of the eye, by lowering the impact of color differences caused by external causes, such as the spectrum of a light source, the spectral characteristics of ocular optical medium transmission, and those of a photo receiver. The procedure for correcting the color retinal images is to standardize the color of an image and makes it possible to use information on color with more confidence to recognize diseases of the eye grounds and the natural course of a pathological process.

Fluorescein Angiography↗

A new allelic series for the underwhite gene on mouse chromosome 15.

A new allelic series at the underwhite gene is described. Three of the alleles in the series--uw, uwd, and Uwdbr--arose as spontaneous mutations on different genetic backgrounds at The Jackson Laboratory. We report here the visible phenotypes and dominance hierarchy of these alleles, all of which are defined by a reduction of pigmentation in both eye and coat color. Electron microscopic analysis of retinal epithelium suggests that the primary defect is in the melanosome. The degree of severity of melanosome anomalies in the retina correlates with the degree of hypopigmentation in the coat. The perturbed gene and its gene product are unknown. We show that the uw locus is genetically distinct from Myo10, a suggested candidate gene for this mutation.

Alleles↗

Color perimetry of glaucomatous visual field defects.

A color video tangent screen has been devised, using microcomputer control of a video display to produce colored perimetric test objects matched in luminance to a white surround at 10-foot lamberts . Perimetric isopters for varying degrees of color saturation were determined by kinetic perimetry. This form of color perimetry was used to examine one eye of each of 40 patients with open-angle glaucoma as well as 20 glaucoma-suspect patients. For the first 23 eyes with manifest glaucomatous visual field defects, a masked comparison was made between the results of color perimetry and conventional perimetry with a Goldmann perimeter. For these 23 eyes, color perimetry did as well as luminance perimetry in 14, was less sensitive in 2, and was more sensitive in 7. All defects that were detectable by conventional perimetry were successfully demonstrated by the color method. Such defects often appeared to be greater in extent when mapped by the color method as compared to conventional luminance perimetry.

Aged↗

Vision defects in albinism.

We have examined the possible presence of color vision anomalies in 9 individuals (17 eyes, 1 blind) with fundus findings suggesting ocular albinism using the Ishihara plates, the 28-hue Roth test, and the Davico anomaloscope. Results indicate that four of these individuals show no sign of the anomalies expected in an albino in either of the two eyes. Of the remaining cases, two are simple deuteranomals in both eyes, according to Pickford's classification criteria. The rest have protanomaly; however, in these the deviation toward red appears in both eyes in only one subject, whereas in the other two subjects it appears in only one eye, their binocular color vision being basically normal. Our study shows that a large proportion of these albinos have photophobia, pendular nystagmus, strabismus, noticeable refractive errors (astigmatism and high myopia), and poor visual acuity [usually less than 6/30 (20/100) with correction]. The measurement of contrast sensitivity function (CSF) indicates that the frequency of 12 cpd cannot be perceived, even in binocular vision.

Adolescent↗

[Ocular toxicity caused by tamoxifen: case report].

To report tamoxifen ocular toxicity. The best visual acuity was measured in both eyes with Snellen chart, slit-lamp examination of anterior segment, refraction, dilated fundus examination, fluorescein angiography and retinography in a 63-year-old patient, female, white, using tamoxifen 20 mg/day for 4 years, with 20/70 and 20/40 corrected visual acuity. The anterior segment examination showed corneal linear subepithelial opacity inferior to the visual axis and nuclear and posterior cortical cataract (1+/4) in both eyes. Fundus examination showed alteration of macular color in both eyes. Fluorescein angiography presented hyperfluorescence in the macular area at an early phase (window defect). Report of keratopathy and maculopathy caused by tamoxifen.

Antineoplastic Agents, Hormonal↗

Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects.

The extension locus has been identified in many mammalian species as a gene that determines the relative amounts of eumelanin and phaeomelanin pigments in hair and skin. In at least three species, this locus has been demonstrated to encode the melanocyte-stimulating hormone receptor (MC1-R), and functionally variant alleles have been demonstrated to cause a broad range of pigmentation phenotypes. To test for MC1-R allelic variation in man, genomic DNA was extracted from skin samples collected from patients with different skin types (I-VI), and eye and hair color. A PCR-based approach was used to amplify the full-length coding sequence of the MC1-R and the resulting products were sequenced. Two polymorphic alleles were identified with single point mutations in the coding sequence: a valine-to-methionine substitution at position 92 (V92M), and an aspartic acid-to-glutamic acid substitution at position 84 (D84E). RFLP analysis demonstrated the presence of the V92M allele in 4 out of 60 (6.6%) of individuals examined, predominantly those with blue eyes and blond hair. This polymorphism was found in both heterozygous and homozygous states in individuals with type I skin. The D84E allele was found in one individual with skin type I; this person also has the V92 M allele and thus is a compound heterozygote.

Amino Acid Sequence↗

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.

Adolescent↗

Unreliability of self-reported burning tendency and tanning ability.

Burning and tanning histories were studied in 790 white students 18 to 30 years of age by means of a self-administered questionnaire. Only 325 cases (41.1%) were classifiable according to the Fitzpatrick scheme (skin types I to IV). Skin type I (always burn, never tan) was recorded only twice (0.3%). The minimal erythemal dose was measured in a subgroup of 197 students; these results showed no significant correlation with the self-reported burning tendency. In 508 students the burning-tanning histories were compared with eye and hair color, freckling tendency, and number of moles. The tanning ability showed a better correlation with skin complexion characteristics than the burning tendency. It is concluded that self-reported burning-tanning histories form an unreliable means of skin typing.

Adult↗

A single gene (yes) controls pigmentation of eyes and scales in Heliothis virescens.

A yellow-eyed mutant was discovered in a strain of Heliothis virescens, the tobacco budworm, that already exhibited a mutation for yellow scale, y. We investigated the inheritance of these visible mutations as candidate markers for transgenesis. Yellow eye was controlled by a single, recessive, autosomal factor, the same type of inheritance previously known for y. Presence of the recombinant mutants with yellow scales and wild type eyes in test crosses indicated independent segregation of genes for these traits. The recombinant class with wild type scales and yellow eyes was completely absent and there was a corresponding increase of the double mutant parental class having yellow scales and yellow eyes. These results indicated that a single factor for yellow eye also controlled yellow scales independently of y. This gene was named yes, for yellow eye and scale. We hypothesize that yes controls both eye and scale color through a deficiency in transport of pigment precursors in both the ommochrome and melanin pathways. The unlinked gene y likely controls an enzyme affecting the melanin pathway only. Both y and yes segregated independently of AceIn, acetylcholinesterase insensitivity, and sodium channel hscp, which are genes related to insecticide resistance.

Acetylcholinesterase↗

Risk factors of squamous cell carcinoma of the skin. A case-control study in the Montreal region.

A matched case-control study was undertaken to assess the relative risk associated with known and suspected risk factors of squamous cell carcinoma of the skin among patients in the Montreal region. Three hundred eleven cases histologically diagnosed in 1977 and 1978 in 12 hospitals and meeting strict definition criteria were identified. With the exception of six cases, two controls were matched to each case for sex, age, and hospital of diagnosis. A logistic regression analysis was done. The known host risk factors (eye and hair color, complexion, descent) and nonoccupational sunlight exposure were found to be operative in the Montreal region. After adjusting for these factors, occupational sunlight exposure appeared to be a risk factor. An association was then observed between the risk of squamous cell carcinoma of the skin and tobacco smoking and the use of a sunlamp. Relative risks associated with the above-mentioned factors were estimated.

Age Factors↗

Seborrheic skin and acne vulgaris as protective factors against the development of basal cell epithelioma.

This study was conducted in order to evaluate a possible protective role of seborrheic complexion and a history of acne on the development of basal cell epithelioma (BCE). For this purpose, 77 patients with this tumor were examined and asked to fill out a questionnaire. The questionnaire included demographic data and questions about skin type, eye and hair colors, sun exposure habits and a past history of acne. The nature, number and location of tumors, the texture of skin and acne scars were noted by a physician. A group of 93 age-, sex- and skin-color-matched patients served as controls. The results show a clear relationship between seborrheic features and a lower risk of developing BCE, after controlling for solar exposure using the Mantel-Haenszel summary measure. The same trend was found in patients with a history of acne. Whether ultraviolet light absorption by sebum, an anticancer activity of Propionibacterium acnes or other factors play a protective role against the development of BCE is as yet unclear.

Acne Vulgaris↗

Fundus pigment distribution in rhesus monkeys.

There is growing evidence for an interaction among fundus pigmentation, character, geography and the function and structure of the outer retina. We examined three inbred groups of rhesus macaques (132 eyes) including all ages. One was a smaller (18 eyes) group. Coat colors were variations of brown-tan however, the smaller group had lighter 'golden' coats and colors. Fundus images were classified for pigmentation and its geographic distribution. In golden-coated animals there was bias toward nasal fundus hypopigmentation with the optic disk as a watershed demarcation zone, which extended in the superior-inferior direction. Temporal fundus hypopigmentation did not occur in the absence of nasal hypopigmentation. More common, darker coated samples showed a characteristic diffuse fundus pigmentation. There was no evidence for albinism or large variations in macular pigmentation. Rhesus monkeys can exhibit geographically controlled genetic development of fundus pigmentation. Hypopigmentation provides for access to the choroidal infrastructure.

Animals↗