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PubMed2004

Deafness prevalence and pigmentation and gender associations in dog breeds at risk.

Hearing function was tested in dogs from breeds at risk for pigment-associated congenital sensorineural deafness - Dalmatian, English setter (ES), English cocker spaniel (ECS), bull terrier (BT), Australian cattle dog (ACD), whippet, Catahoula leopard dog, and Jack Russell terrier. Deafness prevalence was highest in Dalmatians and lowest in ECS. Phenotype correlation studies were performed in breeds with >100 brainstem auditory evoked responses (BAER) tested subjects. No gender differences were observed. No differences were seen between black- and liver-spotted Dalmatians, among the ES roan colour varieties, among the ECS parti varieties, or among the ACD colour varieties. Blue eyes were positively associated and patches were negatively associated with deafness in the Dalmatian. Blue eyes were also associated with deafness in the ES and ECS. White BT were more likely than coloured BT to be deaf. Having one or more parent's ear deaf was positively associated with deafness in Dalmatians, ES, and ECS.

Animals↗
PubMed1996

Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study.

The atypical mole syndrome (AMS) phenotype, characterised by a large number of common naevi as well as atypical naevi, has been described in families with a genetic susceptibility to melanoma. However, the importance of this phenotype for melanoma in the general population has not been conclusively determined. This study was designed to examine the types and distribution of naevi as well as the prevalence of the AMS phenotype in melanoma patients in England compared with controls. A total of 426 cutaneous melanoma cases (61% of all incident cases) aged 16-75 years were recruited between 1989 and 1993 from the north-east Thames region of the UK and 416 controls from the same age group were recruited over the same period and from the same region. Each subject answered a questionnaire covering demographic details, sun exposure history and other risk factors and underwent a skin examination with total body naevus count performed by a dermatologist. The AMS phenotype was defined using a scoring system. Atypical naevi gave the highest relative risk for cutaneous melanoma, with an odds ratio (OR) of 28.7 (P < 0.0001) for four or more atypical naevi compared with none. Many common naevi were also an important risk factor: the OR for 100 or more naevi 2 mm or above in diameter compared with 0-4 naevi was 7.7 (P < 0.0001). Melanoma was also associated with naevi on sun-exposed sites but also with naevi on non-sun-exposed sites such as the dorsum of the feet, buttocks and anterior scalp. Sixteen per cent of the cases had the AMS phenotype compared with 2% of the controls (OR 10.4, P < 0.0001). The AMS phenotype was more common in males than females (P = 0.008). The odds ratio for the presence of the AMS phenotype was dependent on age, with an odds ratio of 16.1 (95% CI 4.6-57.5) for the presence of the AMS phenotype if aged less than 40 compared with an odds ratio of 6.9 (95% CI 2.9-16.6) if aged 40 or more. The AMS phenotype was strongly predictive of an increased risk of melanoma outside the familial context.

Adolescent↗
PubMed1984

The determinants of actinic skin damage: problems of confounding among environmental and constitutional variables.

Constitutional and environmental determinants of actinic skin damage, assessed by cutaneous microtopography, were evaluated in 1,216 subjects attending the 1981 Busselton Health Survey in Western Australia. Increasing age, male sex, the tendency to burn on exposure to sunlight and outdoor occupation were found to have independent predictive value for the presence of actinic skin damage. Crude positive and inverse associations of actinic skin damage with several other factors were shown to arise from confounding. Effect measures for outdoor leisure pursuits and sunscreen use were underestimated due to inverse associations of these factors with older age, and inverse associations of high-exposure outdoor activities with poor skin response to sunlight. Associations of constitutional traits typical of fair individuals and sunscreen use with the tendency to burn resulted in overestimation of effect measures. Empirical relationships of actinic skin damage with certain leisure activities and with use of sunscreens were also confounded by sex. The results indicate a need for greater attention to confounding in nonexperimental skin cancer research.

Adolescent↗
PubMedDate not supplied

Pelage mutant allele frequencies in domestic cat populations of Poland.

To determine mutant allele frequencies, surveys of coat phenotypes of the domestic cat (Felis catus L.) were conducted from October 1982 to June 1985 in 23 urban and rural populations of Poland (N = 67-278). The seven gene loci studied included: sex-linked orange (O), agouti (A), tabby (T), full-color expression (D), long hair (L), piebald spotting (S), and dominant white (W). The mutant allele frequencies at these loci are: p(O) = 0-0.139, q(a) = 0.487-0.774, p(Ta) = 0, q(tb) = 0.132-0.451, q(d) = 0-0.332, q(l) = 0-0.220, p(S) = 0.242-0.620, and p(W) = 0. The coefficients of darkness estimated ranged from 0.51 to 0.75, showing no statistically significant differences between urban and rural populations. Of the gene loci studied, only A and S show such differences, with the incidence of alleles a and S being, respectively, significantly higher and lower for urban areas. The relatively great amount of genetic heterogeneity in the cat populations of Poland seems to reflect historical determinants. The Polish data are compared to those from Europe, northern Africa, and western Asia, and geographic patterns in distribution for all of the mutant alleles studied are described.

Alleles↗
PubMed1998

Nodular histogenetic type -- the most significant factor for thick melanoma: implications for prevention.

Tumour thickness is the most important prognostic factor in malignant melanoma. To reduce the melanoma-related mortality, factors related to the presentation of thick melanoma have to be identified. Three samples of melanoma patients (n=694) were studied for this purpose. Histogenetic type was the only factor which differentiated between 'thin' (< or = 0.8 mm) and 'thick' (> 2.0 mm) lesions. During a 10-year period only 3% of the nodular lesions were 'thin' at diagnosis. Differences in knowledge about melanoma or the location of the lesion (either 'easy' or 'difficult' for the patient to observe) did not explain differences in tumour thickness. The most common tumour site irrespective of histogenetic type and gender was 'back of the trunk'. 'Increase in diameter' and 'bleeding' were the symptoms most frequently reported by patients with 'thick' melanoma. 'Thick' lesions were diagnosed in older age groups and in men to a greater extent. Considering these results, melanoma prevention should also be targeted to older age groups and attention should be paid to symptoms such as 'increase in diameter' even in the absence of other characteristic symptoms of melanoma. An increased proportion of nodular melanoma diagnosed as 'thin' lesions can be interpreted as a step forward in secondary prevention.

Adult↗
PubMed1990

Measurement and perception of skin colour in a skin cancer survey.

A population-based prevalence survey of skin cancer was conducted in Nambour, Queensland, in 1986. The skin colour of 807 participants was assessed in three ways: quantitatively, graded by a dermatologist, and self-reported. Quantitation of skin pigmentation was obtained by measuring the reflectance of light of wavelength 650 nm, at six sites. Females showed higher mean reflectance (paler skin) than males at all sites with the greatest difference on the lateral forearms. Prevalent skin cancer in males, and solar keratoses in both sexes were correlated with inherently pale skin colour on an unexposed site, and the presence of keratoses was correlated with darkly-pigmented backs of the hands (P less than 0.001). Both dermatologists' and participants' grading of skin colour were moderately correlated with measured skin colour. For dermatologists, correlation was highest with reflectance from the medial upper arms (r = 0.35, right arm; 0.30, left) in males, and the lateral forearms (r = 0.34, right; 0.38, left) in females. Correlations between reflectance values and self-reported innate skin colour were highest for the upper arms (r = 0.26, right; 0.24, left) in males, and for forearms (r = 0.42, right and left) in females. Prevalence of actinic lesions was more highly correlated with subjectively assessed skin colour than with quantitative skin pigmentation.

Adult↗
PubMed1994

Improved prediction of the minimal phototoxic dose in PUVA therapy.

In an attempt to improve the prediction of PUVA erythemal sensitivity, we have examined, in 251 patients, the relationship between the minimal phototoxic dose (MPD) and a number of variables, including skin type, ingested dose of 8-methoxypsoralen (8-MOP) and history of previous PUVA treatment. The MPD was determined by phototesting 2 h after ingestion of crystalline 8-MOP, given at a standard dose of 0.6 mg/kg (calculated to the nearest 10 mg). No reaction to the highest dose of UVA used for phototesting occurred in 16% of cases; the dose of 8-MOP was significantly associated with non-response. In the patients in whom an erythemal response was obtained, a significant association was found between the MPD and the variables of skin type, ingested dose of 8-MOP, and history of previous PUVA treatment. Thus, by taking these factors into account, a more accurate prediction can be made of an individual patient's erythemal sensitivity to PUVA than relying on skin type alone. That erythemal sensitivity is affected by the ingested dose of 8-MOP (even when all patients received 0.6 mg/kg) suggests that conventional psoralen dosing according to body weight is not ideal.

Adolescent↗
PubMedDate not supplied

Brainstem auditory-evoked potential assessment of congenital deafness in Dalmatians: associations with phenotypic markers.

To screen for congenital deafness, brainstem auditory-evoked potential (BAEP) testing was performed on 1031 Dalmatians from three geographically separated areas. Phenotypic marker assessment was done to determine markers possibly associated with deafness. Markers included sex, hair coat color, pigmentation of different areas of skin (eye rims, nose, and ears), presence of a patch, spot size and marking (density of spotting), sire and dam BAEP status, and presence of iris and retinal tapetal pigmentation. Combined data from all test sites showed 8.1% bilateral deafness (N = 83 dogs) and 21.6% unilateral deafness (N = 223), or an overall 29.7% incidence of hearing disorders. Significant (P less than 0.05) associations with deafness for the data from all test sites combined were seen for patch, sire and dam BAEP, iris pigment, and retinal pigment. However, results differed for several of the significant phenotypic markers when analyses were done on the data from the individual test sites; changes from significant to not significant were found. This suggested the existence of multiple populations of deafness patterns, and reinforced the precautionary conclusion that associations of phenotypic markers with deafness are not necessarily functionally significant.

Animals↗
PubMed1985

Evaluation of human hair sources for the in vitro hair perforation test.

The in vitro hair perforation test for dermatophytes was evaluated with hair from males and females aged 6 months to 67 years, including hair of various natural colors and hair which had been bleached, tinted, curled, sprayed, or subjected to various combinations of these treatments. In contrast to published recommendations, the source of hair had no effect on this diagnostic procedure.

Adolescent↗
PubMed1989

Frequency of acquired melanonevocytic nevi and their relationship to skin complexion in 939 schoolchildren.

In 939 schoolchildren aged 8-16 years skin complexion was determined by a system of seven categories Anamnestic data concerning tanning ability and history of sunburns, however, were not considered owing to their obvious unreliability in children. Mean nevus count was 17.97, was significantly higher in boys than in girls and increased with age. There was a clear relation of mean nevus number and skin complexion: in fair skin type nevi are most frequent, decreasing in number by increasing of pigment content. Additionally, children with freckles have higher mean nevus count in every category of skin complexion. All literature data critically reviewed as dealing with mean mole count are not comparable in several respects. In different races, however, such studies may serve as a basis for subsequent investigations concerning the questions of probably increasing number of melanonevocytic nevi.

Adolescent↗
PubMed1989

Sun exposure and malignant melanoma among susceptible individuals.

The purpose of this case-control study was to identify susceptible subgroups, primarily based on pigmentary characteristics, at higher risk of developing melanoma when exposed to the sun. The study group, which was interviewed from 1979 to 1982, consisted of 289 consecutive patients with melanoma and 527 randomly selected controls without cancer. In general, the risk of melanoma associated with sun exposure was greater for individuals expected to be susceptible on the basis of poor ability to tan, but not other pigmentary traits. There were, in addition, some noteworthy interactions between age and sun exposure. Among subjects with poor tanning ability, the risk of melanoma associated with outdoor occupation was more than 3-fold [odds ratio (OR) = 3.3] compared to indoor occupation. In contrast, the analogous OR was much less elevated among subjects with a good ability to tan (OR = 1.5). Mixed indoor and outdoor job exposure was protective among good tanners (OR = 0.80), but not among poor tanners (OR = 1.5). A similar pattern was seen for recreational sun exposure and, when applying multiple logistic regression, for the patient's overall subjective assessment of his lifetime sun exposure. However, quantitative assessment of average hours of sun exposure did not prove to be a good indicator of melanoma risk, even among susceptible individuals. A history of severe sunburn with blistering was associated with nearly 3-fold risk among poor tanners (OR = 2.9) but was protective among good tanners (OR = 0.79). A history of nonmelanoma skin cancer or solar keratosis was a very strong risk factor (OR = 7.3), which, however, did not significantly differ in magnitude among susceptibility subgroups.

Adult↗
PubMed1998

Spontaneous osteoarthritic lesions in a new mutant strain of the mouse.

In our laboratory, mice showing signs of osteoarthritic lesions with cinnamon colored (yellowish-brown) hair were discovered in a colony of B6C3F1 mice. This mouse is characterized by tiptoe walking and swelling and ankylotic changes in the ankle joint. As to radiographic findings, osteoarthritic changes, such as erosion and/or fusion of the bone tissue, were evident in the ankle joints. Histopathological characteristics included irregularity of articular surfaces caused by fissuring and/or erosion with degeneration of articular cartilage, as well as osteophytes with abnormal proliferation of chondrocytes in joint margin regions. Subsequently, ankylotic changes in the ankle joints were completed in the formation of a cartilaginous bridge and fusion of articular cavity with abnormal proliferation of cartilaginous or bone tissues. This mouse strain may provide an additional animal model that is valuable in the study of human osteoarthritis (OA).

Animals↗
PubMed1986

[Genetical analysis and characterization of a new mutant, black tremor appearing in the Syrian hamster].

A black coat-color mutant with tremor was discovered in babies of 61 generations of an inbred strain APG of Syrian hamster which had been maintained in the Nippon Institute for Biological Science, Laboratory Animal Research Station. The genetical analysis by matings between four inbred strains which had different genes in the E and B loci and four mutant strains which were introduced the mutant gene into the four inbred strains and characterization were carried out on the mutant. The results obtained are summarized as follows: 1) The mutation occurred in a different locus with E and B loci. 2) The mutant was controlled by an autosomal recessive gene designated as "bt", and it was thought that both tremor and black coat-color were the pleiotropic effect of bt gene. 3) At least one E gene in the E locus was necessary for the appearance of black coat color. Therefore, the coat-color remained cream in ee (cream) hamsters showing only trembling. 4) The degree of blackness of the coat-color of EE hamsters differed from Ee ones. The former was darker than the latter. 5) The mutant may be a useful animal model for studying abnormal myelogenesis and biosynthesis of melanin.

Animals↗
PubMed1997

Assessing children's ultraviolet radiation exposure: the use of parental recall via telephone interviews.

OBJECTIVES: This study evaluated the validity of a parental report measure of children's solar protection behaviors. METHODS: Fifty-eight children had skin color assessed twice with a colorimeter. Between measurement sessions, parents were interviewed by telephone to assess children's indoor-outdoor status and solar protection across 40 hourly intervals. RESULTS: Parental report of child's indoor-outdoor status was significantly correlated with the colorimeter values, whereas the use of sunscreen and protective clothing was not. CONCLUSIONS: This measure was feasible for assessing ultraviolet exposure in young children. The component that assessed the number of intervals spent outdoors evidenced predictive validity.

Child↗
PubMed2000

Complex segregation analysis of deafness in Dalmatians.

OBJECTIVE: To use pedigree analysis to evaluate the feasibility of a major locus model for deafness in Dalmatians. ANIMALS: 605 purebred Dalmatians from 42 families. PROCEDURE: Hearing loss was evaluated through the brainstem auditory-evoked response. Dogs were classified into mutually exclusive categories: normal hearing, unilaterally deaf, or bilaterally deaf. Information was collected on sex, coat color, presence or absence of a color patch at birth, and eye color. Statistical analyses were performed by use of regressive logistic models designed for complex segregation analysis. Genetic correlations among eye color, deafness, and color patch were estimated. RESULTS: Prevalence of hearing loss was 11% for dogs classified as unilaterally deaf and 5% for dogs that were bilaterally deaf. Complex segregation analysis detected statistical evidence of a single allele with an expected frequency of 0.21 that had an effect on the prevalence of deafness. Results of analyses suggested that this locus cannot completely explain the inheritance and incidence of deafness in Dalmatians. Genetic correlation estimates among deafness, eye color, and color patch revealed strong interrelationships among these characteristics. CONCLUSIONS AND CLINICAL RELEVANCE: To reduce the incidence of hearing loss in Dalmatians, unilaterally deaf, blue-eyed dogs should not be considered as potential parents.

Alleles↗
PubMed1996

Effects of controlled exposure of sunlight on plasma and skin levels of beta-carotene.

We conducted a randomized placebo-controlled double-blind study in 20 healthy young female students (skin type II + III, body mass index 18-22) in order to evaluate the efficacy of 10 weeks of moderate dose (30 mg/d) beta-carotene (BC) on plasma and skin beta-carotene levels during 12 days of time and intensity controlled sunlight exposure at sea level (30 degrees latitude, Red Sea, Eilath, Israel). After 12 days of controlled sun exposure (total UV dose of about 10.000J/cm2), plasma beta-carotene decreased in the placebo (p < 0.01) and beta-carotene group (not significant). In addition cutaneous beta-carotene decreased significantly in both groups. Plasma alpha-tocopherol decreased significantly (p < 0.01) during exposure time in both groups. In the supplemented group, however, the decrease of a-tocopherol was significantly greater (p < 0.01) than in the placebo group. We conclude that sunlight influences the beta-carotene and alpha-tocopherol content of blood and tissues.

Adult↗