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[Genetic and phenotypic markers in adult leukemia].

The authors studied a number of original genetic phenotypical markers in leukemia patients. They suggested the existence of polygenic impacts involved in leukemia genesis. Hence, leukemias may be linked with some gene markers. It was established that leukemic subjects had phenotypical frequencies of cerebral hemispheric and sighting eye asymmetry, density of ear wax, hair color significantly different from those in the population. Hence, the above markers may indicate individual predisposition to leukemias.

Adult↗

[Postmenopausal osteoporosis: clinical characteristics in patients first vertebral crush fracture. Results of the GRIO National Multicenter Survey. Groupe de Recherche et d'Information sur les Osteoporoses].

This national multicenter study by the French Task Force on Osteoporosis Research and Information (Groupe de Recherche et d'Information sur l'Ostéoporose GRIO) was carried out to define clinical features in women presenting with a first osteoporosis-related vertebral crush fracture. Seventy-four patients with a less than three-month history of back pain due to a first vertebral fracture documented on the basis of stringent roentgenographic criteria, were compared to 74 normal age-matched female controls. Mean age at first vertebral fracture was 67 +/- 7 years. Cases and controls filled out a 78-item questionnaire on morphology, reproductive function, environmental factors, and previous fractures. The circumstances of onset and site of the vertebral fracture were recorded. Both groups were comparable in terms of age, body weight, hair color and eye color, whereas mean height was smaller by 2 cm in cases (p < 0.02). Among data on reproductive function, the only difference was a younger age at last menses among cases (47.7 +/- 5.7 versus 49.8 +/- 4.8 years); number of pregnancies and duration of breast-feeding were comparable in cases and controls. Environmental factors (smoking, alcohol use, physical activity, dietary calcium) were similar in the two groups. Cases were more likely than controls to report a history of appendicular fractures and/or a positive family history for vertebral osteoporosis. This study in French women suggests that the first osteoporotic vertebral fracture occurs approximately 20 years after cessation of menses and that risk factors include earlier age at last menses, a history of fracture, and a family history of vertebral osteoporosis.

Age Distribution↗

Hair in infancy and childhood.

Of concern to new mothers is often the question, "Does my baby look normal?" In regard to the scalp and hair patterns of the infant, we have provided at least a basic guideline of what is generally considered the norm or variants of normal. Our goal was to outline accepted methods to care for an infant's hair and present certain problems a mother could encounter concerning the hair and scalp of her child or adolescent. We wish for this to serve as a practical guide to physicians in preparing mothers to care for their child's hair needs.

Child↗

Accelerated disappearance of melanocytes in bcl-2-deficient mice.

Follicular melanocytes in bcl-2(-/-) mice have been reported to turn gray during the second hair cycle. Light microscopic analysis revealed that about half of bcl-2(-/-) mouse hair shafts had no detectable melanin granules after the second hair follicle cycle, but the remaining hair appeared to be pigmented normally. After depilation to induce new anagen hair, more than 97% of the hair shafts did not have visible melanin granules in bcl-2(-/-) mice, whereas 100% of the hair shafts in bcl-2(+/+) mice were pigmented. In bcl-2(+/+) mice, dopa-positive melanocytes appeared on day 4 after depilation, whereas bcl-2(-/-) mice developed few dopa-positive melanocytes after depilation, as assessed by light and electron microscopic observation. bcl-2(-/-) mouse hair in the second hair cycle contained about 60-70% less melanin than normal mouse hair, and newly generated bcl-2(-/-) mouse hair after depilation contained a level of melanin as low as that of albino mouse hair. These observations suggest that the expression of bcl-2 might be essential for melanocyte maintenance after the second hair cycle.

Animals↗

Chemical exposures, medical history, and risk of squamous and basal cell carcinoma of the skin.

The role of non-sunlight-related risk factors for squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) of the skin was investigated in a population-based, case-control study conducted among males in Alberta, Canada. In total, 180 SCC and 226 BCC cases and 406 randomly selected male controls, frequency matched by 5-year age groups to the cases, were interviewed by trained personnel using a standardized etiological questionnaire. Data were analyzed using conditional logistic regression techniques. After adjustment for age, skin and hair color, mother's ethnic origin, and sunlight exposure, elevated risks for SCC were seen in subjects exposed to insecticides [odds ratio (OR), highest tertile, 2.8; 95% confidence interval (CI), 1.4-5.6], herbicides (OR, highest tertile, 3.9; 95% CI, 2.2-6.9), and fungicides and seed treatments (OR, highest tertile, 2.4; 95% CI, 1.4-4.0), as well petroleum products, grease, and several other exposures. Elevated risks of BCC were seen in subjects exposed to fiberglass dust (OR, 2.0; 95% CI, 1.0-3.9) and dry cleaning agents (OR, 4.6 95% CI, 1.1-19.7). Prior nondiagnostic X-ray treatment for skin conditions increased risk of both cancers. Although solar UV radiation is known to be the major environmental exposure causing nonmelanocytic skin cancer, results of this study suggest that nonsolar factors may also be important.

Adult↗

Quantification of eumelanin and pheomelanin: stereologic image analysis method.

OBJECTIVE: To develop an ultrastructural stereologic image analysis method allowing quantification of intracellular melanization. STUDY DESIGN: First, in the field of image analysis, a newly elaborated segmentation method, SEM2, was compared with a previously described method based on gray level histograms. Only SEM2 allows the segmentation of melanin in micrographs of poorly melanized melanocytes. Second, in the field of stereology, estimation of cell volume remains problematic in the case of mixed cell populations. This problem is approached by the comparison of stereologic alternatives and cytochemistry (L-3, 4-dihydroxyphenylalanine reaction) in epidermal melanocytes and melanoma cells from several in vitro experiments. The cytochemical approach was found to be the best choice. RESULTS: Concerning the quantification of eumelanin and pheomelanin, the alkali elution method, permitting the specific dissolution of pheomelanin on ultrathin sections, was validated in normal human follicular melanocytes. CONCLUSION: These results allow us to envisage the stereologic quantification of eumelanin and pheomelanin at the ultrastructural level. At present our method is undergoing evaluation by comparison with the present method of reference based on high-performance liquid chromatography.

Adolescent↗

[Self-induced cutaneous lesions in Prader-Willi syndrome].

INTRODUCTION: The Prader-Labhart-Willi syndrome was first described in 1956. Prader-Labhart-Willi syndrome is the most common genetic form of human obesity and the incidence of Prader-Labhart-Willi syndrome has been estimated to 1 in 10,000 or 25,000 live births. Skin-picking was frequently reported in Prader-Labhart-Willi syndrome and two patients who displayed repetitive skin picking are described. OBSERVATIONS: Two childrens (6 year-old girl and 7 year-old boy) were examined and noted superficial ulcers of their arms and legs. This cutaneous lesions were induced by children themselves. Skin-picking, in our cases, were associated with behavior problems (temper tantrums, violence). CONCLUSIONS: Skin-picking appears to occur in the great majority of patients with Prader-Labhart-Willi syndrome and constitutes a minor criteria of diagnosis. Hypopigmentation in Prader-Labhart-Willi syndrome appears to be as common as previously features. Significant differences in hair color, sun sensitivity and complexion were found between those patients with chromosome 15 deletion and those with normal chromosome. Association between obesity (onset before 6 years) and skin picking constitute a sign for diagnosis of Prader-Labhart-Willi syndrome.

Child↗

Judaism, genetic screening and genetic therapy.

Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to cure and treat diseases.

Adolescent↗

Changes in melanin granules in the fox due to coat color mutations.

Hair samples from 11 different coat color phenotypes of the fox (Vulpes vulpes) were examined microscopically to determine the effects of several mutations on melanin granule color and distribution. Standard silver (b/b) causes the production of eumelanin rather than the phaeomelanin produced in wild-type red fox. Fromm brown (bf/bf) and Collicott brown (cb/cb) change the shape of the granules and convert eumelanin to brown and dark brown, respectively. The color dilution of Eastern Pearl (pe/pe) and Mansfield Pearl (pm/pm) is caused by clumping of granules in specific manners. Hairs from animals expressing more than one mutant gene, such as Amber (b/b pe/pe bf/bf), show the color and distribution of granules expected from interactions of independent loci.

Animals↗

Sunburn, sunscreens, and phenotypes: some risk factors for cutaneous melanoma in southern Brazil.

BACKGROUND: The risk factors for cutaneous malignant melanoma have been studied in populations from numerous countries around the world. There are no published studies on the risk factors for this malignancy in Brazil, the largest country in South America. METHODS: A case-control study of all melanoma patients attending a university hospital in Porto Alegre, Brazil, was conducted over a 3-year period from 1995 to 1998. Phototype, hair and eye color, solar habits, history of sunburn, use of sunscreens, and the number of nevi were evaluated through a questionnaire and full body skin examination. Bivariate analysis and a logistic regression model were used to evaluate the data. RESULTS: One hundred and three malignant melanoma patients and 206 matched controls were enrolled in the study. The female to male ratio was 2 : 1. Light phototypes were more prone to the development of cutaneous melanoma. Although stronger in the bivariate analysis, in the logistic regression model, phototypes I or II and ephelides emerged only as moderate risk factors; light eye color and light hair color were not independently significant, with adjusted odds ratios (OR) close to zero. Commonly acquired nevi (CAN) showed a significant and strong effect in the bivariate analysis only when the "30 or more" category was compared to baseline. In the logistic regression model, the presence of a large number of CAN showed an association with increased levels of risk, although these findings did not reach classical significance. Dysplastic or atypical nevi seemed to contribute more strongly, although still with a moderate excess of relative risk. When the use of sunscreens was compared to no use at all, it appeared to show progressive protection as the solar protection factor (SPF) increased. Only SPF15 or greater (SPF15+) showed strong and significant protection when compared to baseline. Physical measures offered a weaker level of protection. Nevertheless, there was a significant increase in the risk of melanoma for those with a large number of sunburn episodes. It was found that 30 or more alleged episodes of sunburn showed a very strong OR of 11.4 (95% confidence interval, 2.6-50.5), the most significant in the study. CONCLUSIONS: Phototypes I and II, freckles, a large number of acquired nevi, dysplastic nevi, and inadequate photoprotection appeared as risk factors with moderate strength for cutaneous malignant melanoma in the studied population. The color of the eyes and hair showed a very weak statistical significance as a risk factor. Sunscreens showed progressive significance corresponding to an increase in SPF, the best scores in statistical protection being achieved in users of sunscreens with SPF15 or greater. Frequent sunburn episodes appeared as the most important risk factor associated with malignant melanoma in this sample of the white population in southern Brazil.

Adult↗

Hair dye use and risk of fatal cancers in U.S. women.

BACKGROUND: Permanent hair dyes are used by about one third of adult American women. Several epidemiologic studies associate hair dye use with increased risk of non-Hodgkin's lymphoma and multiple myeloma. In one study, risk increased with more prolonged exposure to darker, more concentrated, permanent dyes. PURPOSE: The purpose of our study was to examine the relationship between hair dye use and development of certain cancers associated with hair dye use in previous studies. METHODS: We examined prospectively the relationship between the use of permanent hair dyes and selected fatal cancers in 573,369 women. The participants provided information in 1982 on the frequency and duration of hair dye use and the color of hair dye used. Death rates were measured through 1989. Relative risks (RRs) were computed with subjects who had not used hair dyes serving as the referent group, and 95% confidence intervals (CIs) were calculated on the basis of approximate-variance formulas. RESULTS: Women who had ever used permanent hair dyes showed decreased risk of all fatal cancers combined (RR = 0.93; 95% CI = 0.89-0.98) and of urinary system cancers (RR = 0.65; 95% CI = 0.49-0.87) and no increase in risk of any type of hematopoietic cancer. Women who had used black hair dyes for 20 years (0.6% of women hair dyers) or more had increased risk of fatal non-Hodgkin's lymphoma (RR = 4.37; 95% CI = 1.3-15.2) and multiple myeloma (RR = 4.39; 95% CI = 1.1-18.3). These positive findings are based on three cases of non-Hodgkin's lymphoma and two cases of multiple myeloma. We found no relationship between use of permanent hair dyes and fatal cancers of the mouth, breast, lung, bladder, or cervix, areas that were of interest as the result of earlier studies. CONCLUSIONS: Women using permanent hair dyes are not generally at increased risk of fatal cancer. Women with prolonged use of dark, particularly black, hair dyes may have increased risk of fatal non-Hodgkin's lymphoma and multiple myeloma, but these women are a small fraction of hair dye users. Nonetheless, the removal of carcinogens from hair dyes and appropriate labeling of hair-coloring products would help reduce this potential risk.

Adult↗

Long-term epilation with long-pulsed neodimium:YAG laser.

BACKGROUND: Unwanted body hair can represent a severe cosmetic disturbance. The traditional methods used to epilate often have limitations, side effects, and unsatisfactory results. In recent years, various light sources (lasers and others) have been developed for long-term epilation of unwanted hair. OBJECTIVE: This study evaluates, on a large number of patients, the efficiency and safety of a long-pulsed low-potency Nd-Yag laser invented specifically for long-term hair removal. METHODS: Some 208 subjects needing epilation were divided into three groups and treated during an 11-month period. Group A included 79 patients with a normal distribution of unwanted hair; Group B 67 patients with constitutional hypertrichosis; and Group C 62 patients with hirsutism. Treatment sessions were performed with a fluence of 23-56 J/cm2 at 1-month intervals until obtaining desirable results. Follow-ups ranged from 1 to 6 months. In 3 patients 4-mm diameter punch biopsy specimens were obtained before the first session and again after 6 hours. A third biopsy was performed after 3 months. RESULTS: Every session resulted in a 20-40% hair loss, depending on the color of hair. Complete epilation was obtained in 4 to 6 sessions. Only white hair was not receptive to laser light, and its growth was not modified. No patients, including dark-complexioned patients, had blistering, hypo-or hyperpigmentation. No pain was present during treatment except for the axillary area. In the specimen obtained after 6 hours, very extensive necrosis of the hair follicular and sebaceous gland epithelium was evident. Histologic findings of the biopsies taken after three months showed complete disappearance of hair and moderate fibrosis. CONCLUSION: This study proves that the long-pulsed Nd:Yag laser treatment produces an excellent prolonged epilation with no relevant side effects. This laser light, having a 1064 nm wavelength, is minimally absorbed in superficial skin layers, and pronounced scattering up to 5 mm occurs targeting the deeper follicles.

Adolescent↗

[Fur color gene profiles and length of hair of several cat populations in Cuba, Costa Rica, Colombia, Paraguay, Chile and Argentina, and possible genetic origins of these cat populations].

Until the present moment, only a scarce number of Latin American domestic cat populations have been studied from a population genetic standpoint. For this reason, the cat populations of La Havana (Cuba), San José (Costa Rica), Bogota and Ibagué (Colombia), Asuncion (Paraguay), Santiago (Chile) and Buenos Aires (Argentina) were sampled for several coat genes. The results obtained were as follows: (1) there was a strong genetic resemblance between several Hispanic American cat populations (especially, those of Buenos Aires, San José and the two Colombian populations studied) and those from South Western United States (California, Texas and Colorado), which adds support to the suspicion that these populations probably have a common origin; (2) The cat population of Santiago (Chile), contrarily to the other Hispanic American populations studied, showed a strong genetic resemblance with some Anglo North American populations; and (3) The l (long hair) and d (dilution) alleles showed systematic higher frequencies in the Hispanic American populations than those observed in Spain. Although the Hispanic American populations were not identical to the current Spanish populations (with the exception of Asuncion), this historic genetic experiment was very different to that found for the British populations and their overseas colonies.

Animals↗