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PubMed1996

[Phenocopies of hereditary retinal degenerations].

BACKGROUND: Phenocopies of retinal degenerations mimic the clinical signs of inherited retinal dystrophies. The purpose of this study is to discuss the difficulties of differential diagnosis. METHODS: Four patients were examined ophthalmologically and by standard electroretinography (ERG). RESULTS: (a) A 19-year-old woman presented with progressive visual loss, bone spicules, concentric narrowing of visual fields and extinguished ERG responses. At 3 years of age, she had developed a retinopathy induced by an infection with measles. (b) A 27-year-old man had bilateral visual loss, night blindness, pigmentary retinal changes, marked attenuation of visual fields and a reduced ERG. All signs of syphilitic retinopathy were regressive under antibiotic therapy. (c) A 59-year-old man showed a visual loss in the left eye, bilateral photophobia, color vision disturbances and a ring scotoma. Cone responses were nonrecordable in the ERG. A birdshot chorioretinopathy was suggested by ophthalmoscopic appearance and HLA typing. (d) A 40-year-old woman presented with paravenous pigmented retinochoroidal atrophy associated with Behcet disease. CONCLUSION: Systemic viral or bacterial inflammation as well as autoimmune disorders may present as phenocopies of hereditary retinal degenerations. A faulty diagnosis may have serious consequences, because necessary therapy may be withheld. Moreover, the misdiagnosis of a hereditary retinal degeneration may have severe effects on the psychic and social status of the patient.

Adult↗
PubMed1977

Oculocutaneous albinism associated with Apert's syndrome.

Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. Iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.

Acrocephalosyndactylia↗
PubMed1993

Chromatic aberration and ocular focus: Fincham revisited.

Longitudinal chromatic aberration of the eye (LCA) produces "color fringes" at edges that specify focus. Fincham [(1951) British Journal of Ophthalmology, 35, 381-393] concluded that these chromatic effects were important for accommodation, but most investigators disagree. We monitored accommodation in 25 subjects while they viewed a sinusoidally moving target (1.5-2.5 D at 0.2 Hz) in a Badal optometer. The target was monochromatic (590 nm with 10 nm bandwidth), or white (3000 K) with LCA normal, neutralized or reversed. Sensitivity to the effects of LCA is profound and widespread. Gain decreases substantially and phase-lag increases when LCA is eliminated, and reversing the aberration severely disrupts accommodation. The ordered arrangement of spectral foci produced by LCA seems to be a fundamental aspect of the stimulus for "reflex" accommodation.

Accommodation, Ocular↗
PubMed1992

Nuclear transplantation of mouse fetal germ cells into enucleated two-cell embryos.

Mouse fetal germ cells were fused with enucleated blastomeres of two-cell embryos. Donor germ cells were obtained from fetuses of albino CD-1 strain or pigmented F(1) (C57BL x CBA) female mice mated with the same strain males at 11.5 to 16.5 days post coitum. Recipient two-cell embryos, which were of a different strain from the donors, were obtained at 37 to 42 hours (Group 1), 42 to 47 hours (Group 2), and 47 to 52 hours (Group 3) after treatment with human chorionic gonadotropin (hCG). After removing the nucleus from one two-cell blastomere, a single germ cell was fused with the enucleated blastomere using the Sendai virus; the second blastomere was left intact. The reconstituted embryos were cultured for 3 days in vitro, to examine their developmental capacity. The fused blastomeres in Groups 1 and 2 did not divide, but a few transplanted blastomeres in Group 3 divided several times, and some of them developed into normal blastocysts. Most embryos developed into blastocysts from one blastomere, with an undivided blastomere remaining. Embryos developing into normal blastocysts or blastocysts with small blastomeres were transferred to the oviducts of Day-1 or the uteri of Day-3 pregnant albino CD-1 mice. None of the young showed any contribution of the germ cells, judging by the eye and coat colors and by the germ cells in the germ line following mating with albino mice. Possible reasons for failure of pluripotency of the germ cells are discussed here.

Journal Article↗
PubMed2006

[Bilateral infectious keratitis in a patient wearing cosmetic soft contact lenses].

We report a case of an immunocompetent 20-year-old woman, wearing planocosmetic contact lenses to change the color of her eyes, with no contact lens hygiene regimen. She developed a bilateral infectious keratitis. Acanthamoeba and Fusarium solani were isolated in both eyes. Bilateral penetrating keratoplasty was needed because of bilateral corneal perforation. Three months later, bilateral simultaneous phacoemulsification was performed because of a dense cataract and a severe decrease in her vision. Six months after surgery, her best corrected visual acuity was 0.7 in the right eye, and 0.6 in the left eye. Cosmetic contact lenses expose the wearers to the same potential ocular complications as other contact lenses. Wearers must be informed of such complications, which may be sight-threatening. Based on this case, we strongly recommend that all cosmetic contact lens wearers be examined and followed as if they were standard contact lens wearers.

Adult↗
PubMed1986

Frequency of moles as a key to melanoma incidence?

Subjects with light skin complexion are especially prone to develop melanoma. Furthermore, individuals with large numbers of moles are also at increased risk of developing melanoma. We studied the association between these two markers of melanoma in a group of healthy white people: 116 children 6 to 9 years of age, 78 children 10 to 13 years of age, and 133 medical and nursing students 18 to 30 years of age. Moles were counted on the chest, back, and lower legs. Skin complexion was established with the use of a scoring system based on burning/tanning ability, eye and hair color, and freckling tendency. A multifactorial statistical analysis was performed. Average mole counts increased with age (p less than 0.0001). Male subjects had more nevi on the trunk than female subjects, whereas counts on the lower legs were higher in female than in male subjects (p = 0.0001). Skin complexion was an important denominator of mole proneness; subjects with a light complexion had higher mean counts than those with a dark complexion (p = 0.0001). The present study shows that a significant association exists between skin complexion phenotype and numbers of moles. The pattern of the appearance of pigmented nevi roughly correlates with the sex and site distribution of melanoma.

Adolescent↗
PubMed2000

On-column visualization of sample migration in liquid chromatography.

A quantitative on-column visualization technique for evaluating solute migration in liquid chromatography columns was described. This technique employed a matched refraction index phase system in high-pressure glass columns. In this case, the mobile phase was carbon tetrachloride and the stationary phase was a C18 silica. Because the refractive indexes of the two phases were the same, the column bed, otherwise opaque, was transparent to the eye. Zones of colored solutes could be injected (iodine for instance) and their migration studied along the column. Photographing the sample band during its migration allowed chromatographic information to be extracted using digital technology. As an example of applications for this technique, we show the sample entry through various inlet fittings. The results demonstrate that chromatographers should pay more attention to the selection of inlet frits. Importantly, the frit porosity should be matched to the particle size of the packing.

Calibration↗
PubMed2005

Synthesis of a double spiro-polyindenofluorene with a stable blue emission.

[reaction: see text] A novel polyindenofluorene containing a double spiro-anthracene structure with solublizing alkyl groups was synthesized. Enhanced spectral stability of the polymer was investigated by heat treatment and photoirradiation in air. The EL spectrum of the polymer showed an enhanced sensitivity to the human eye and good color purity as a blue-emitting material.

Journal Article↗
PubMedDate not supplied

Approaches to the prevention and control of skin cancer.

Skin cancer is the most common and the most preventable form of cancer. Nonmelanoma skin cancers are associated with cumulative exposure to ultraviolet radiation, while melanoma is associated with intense episodes of ultraviolet exposure resulting in sunburns. Numerous risk factors are associated with the development of skin cancer. These include exposure to ultraviolet radiation; phenotypic factors such as skin type, eye and hair color, tendency to burn and tan, and having freckles and moles; a personal or family history of skin cancer; and occupational sun exposure. Primary prevention behaviors include applying SPF 15+ sunscreen 30 minutes before exposure, reapplying SPF 15+ sunscreen every 1 1/2 to 2 hours or after swimming or sweating, dressing in protective clothing, using shade, limiting exposure during peak sun hours, and avoiding artificial sources of ultraviolet radiation such as tanning beds. Secondary prevention behaviors include screening and early detection in combination with education on the primary prevention behaviors. Interventions designed to increase sun protective behaviors have resulted in increased knowledge and attitudes, but limited behavior change. And while skin cancer screenings have shown promising results, few studies have a follow-up component. Future studies should focus on developing effective strategies for making sun protective behaviors routine and determining the effectiveness of skin cancer screening. To inform approaches to the prevention and control of skin cancer, this paper will summarize key primary and secondary preventive behaviors, highlight primary and secondary prevention programs, and identify key unanswered questions in the area of skin cancer prevention and control.

Humans↗
PubMed2000

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↗
PubMed1997

Plantar melanoma: a case-control study in Paraguay.

In Paraguay, the plantar surface of the foot is the most common site for malignant melanoma, as it is in several other populations worldwide, most notably in those of African descent. Here, we report the results of the first case-control study of plantar melanoma, carried out in Paraguay. Sixty incident, histologically confirmed cases of plantar melanoma and 256 hospital controls were recruited in 11 hospitals throughout the country during 1988-93. Information was collected on general demographic, social, and lifestyle variables, on external exposures of feet (shoewear, work activities, injuries), and on some constitutional factors (skin, eye and hair color, and pigmented lesions of the feet). Few of the factors examined appeared to be associated with the risk of plantar melanoma. Adjusted for possible confounders, the strongest association was found for reported injuries (odds ratio [OR] = 40.9, 95 percent confidence interval [CI] = 14.8-112.7) and for occurrence of naevi on the soles (OR = 5.9, CI = 2.5-14.3). Walking barefoot did not seem to contribute to the risk although an outdoor workplace was associated with an increased melanoma occurrence (OR = 2.3, CI = 1.1-4.8). Future studies should be aware of problems of recall bias with respect to previous injuries, and ensure that evaluation of pigmentation of the sole is carried out blind to case/control status.

Adult↗
PubMed2005

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

The endothelin signaling pathway plays a crucial role in melanocyte differentiation and migration. In this study, we investigated whether germline mutations of endothelin receptor B (EDNRB), a gene involved in Hirschsprung disease (HSCR), could also predispose for malignant melanoma (MM). The coding region of EDNRB was sequenced in 137 MM patients and in 130 ethnically matched Caucasian control subjects. Six nonsynonymous EDNRB variants were found in 15 patients (11%), but only two were found in four control subjects (3%, odds ratio [OR] = 3.87, 95% confidence interval [CI] = 1.25 to 12; P = .012). Overall, 14 out of 15 MM patients carried EDNRB mutations reported in HSCR, some of which had previously been shown to lead to loss of function. In multivariable logistic regression analysis including skin type, eye and hair color, number of nevi, and dorsal lentigines (freckles), the association between EDNRB mutations and MM risk remained statistically significant (OR = 19.9, 95% CI = 1.34 to 296.2; P = .03). Our data strongly suggest that EDNRB is involved in predisposition for two different multigenic disorders, HSCR and melanoma.

Adult↗
PubMedDate not supplied

Albinism in Icelandic sheep.

A description is given of complete albinism in Icelandic sheep. The albino animals, which have occurred both among white and nonwhite strains of sheep, are pure white in color with pink eyes and impaired vision in bright light. The condition is shown to be autosomal, recessive, and is assumed to be caused by a mutation of C to c, thereby being homologous to albinism in rodents. Data on mating results are tabulated. This is believed to be the first case of albinism reported in sheep.

Albinism↗