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1.
Skinmed ; 19(5): 332-333, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34861911

RESUMEN

Dermatology publications have substantial untapped potential to improve patient care for all patients and communities. The leadership role of both editors and editorial boards of these journals, books, and digital media provides an important opportunity to support professional diversity, equity, and inclusion (DEI) plus democratization of knowledge.1 Multiple events in many countries in recent times have revealed the need to work harder at DEI to ensure a level playing field for all patients, clinicians, and researchers.


Asunto(s)
Dermatología , Humanos , Internet
3.
Am J Hum Genet ; 100(6): 978-984, 2017 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-28575652

RESUMEN

The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. This disorder is characterized by severe lesions of thick scaly skin on the face and genitals and thickened, red, and scaly skin on the hands and feet. Although exome sequencing revealed several of the KDSR mutations, we employed genome sequencing to discover a pathogenic 346 kb inversion in multiple probands, and cDNA sequencing and a splicing assay established that two mutations, including a recurrent silent third base change, cause exon skipping. Immunohistochemistry and yeast complementation studies demonstrated that the mutations cause defects in KDSR function. Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation.


Asunto(s)
Oxidorreductasas de Alcohol/genética , Genes Recesivos , Predisposición Genética a la Enfermedad , Queratosis/enzimología , Queratosis/genética , Mutación/genética , Ceramidas/biosíntesis , Proteínas Filagrina , Prueba de Complementación Genética , Heterocigoto , Humanos , Proteínas de Filamentos Intermediarios/metabolismo , Polimorfismo de Nucleótido Simple/genética , Empalme del ARN/genética , Saccharomyces cerevisiae/metabolismo
12.
BMC Dermatol ; 9: 11, 2009 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-19909522

RESUMEN

BACKGROUND: Little evidence exists to guide treatment of alopecia areata (AA). The current practices in treatment of children compared to adults and of progressive stages of hair loss are unknown. The objective of this study was to examine the current practices of southeastern United States dermatologists for the treatment of AA. METHODS: Dermatologists were sent anonymous questionnaires regarding their treatment practices by mail. Respondents' frequencies of treatment in children compared to adults and in patchy hair loss compared to widespread hair loss were compared with Wilcoxon signed-ranks tests and Friedman tests. As a secondary source, the National Alopecia Areata Registry (NAAR) database was analyzed for patients' treatment histories. RESULTS: Survey results suggested that dermatologists recommend treatment less frequently for children than adults and for more advanced hair loss. NAAR data confirmed that offering no treatment for AA is relatively common. CONCLUSION: Dermatologists' treatment of AA is inconsistent. A stronger evidence base will provide more consistent treatment options.


Asunto(s)
Alopecia Areata/terapia , Actitud del Personal de Salud , Encuestas de Atención de la Salud , Práctica Profesional , Estudios Transversales , Humanos , Cuerpo Médico de Hospitales , Sudeste de Estados Unidos , Encuestas y Cuestionarios
13.
J Natl Med Assoc ; 101(9): 900-7, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19806847

RESUMEN

Difficulty in recruiting African American adults for clinical trials is well documented, but there is no consensus on African American children. Responses of a survey completed by 90 African American and Caucasian parents from December 2004 to April 2005 were analyzed to determine if racial disparities exist in research participation interest in an academic pediatric dermatology clinic. The majority of questions (32 of 38) were answered similarly by subjects of both races. However, when compared to African Americans, Caucasians were slightly more trusting (84% vs 65%) in regard to either total or moderate trust (p = .03). African Americans were 3 times as likely to feel that their child might be "treated like a guinea pig" if the child was a research subject (p = .03). Nearly a third more Caucasians than African Americans would be more inclined to enroll their healthy child in a research study if they had an established relationship with the health care provider informing them of the study (p = .0001). Caucasians had more exposure to research (p = .03). Nevertheless, there was no racial difference in the willingness to theoretically allow their child to participate in research studies. Accordingly, the possible lack of trust should not be used as the only reason racially representative recruitment goals are not accomplished.


Asunto(s)
Investigación Biomédica , Negro o Afroamericano/psicología , Conocimientos, Actitudes y Práctica en Salud , Padres/psicología , Pediatría/normas , Población Blanca/psicología , Adolescente , Investigación Biomédica/normas , Investigación Biomédica/estadística & datos numéricos , Niño , Preescolar , Ensayos Clínicos como Asunto , Femenino , Humanos , Lactante , Recién Nacido , Consentimiento Informado , Masculino , Percepción Social , Encuestas y Cuestionarios
15.
Pediatr Dermatol ; 25(1): 19-24, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18304147

RESUMEN

Atopic dermatitis is a common chronic skin condition in children. Treatment strategies often require stringent adherence to skin care regimens for symptom resolution. As many factors influence the course of the condition, we investigated the role of a designated "atopic dermatitis educator" in a pediatric dermatology clinic. We planned to determine whether the individual interaction with an atopic dermatitis educator affects the course of disease severity, resolution, and quality of life in atopic children. New and return pediatric atopic dermatitis patients from English-speaking families were recruited from a pediatric dermatology clinic with a single pediatric dermatologist. The 151 subjects were randomized to either the control or the intervention group. A total of 106 subjects completed the study. Those in the intervention group received the atopic dermatitis educator's individual counseling/education session. Subjects' severity was determined by the Scoring Atopic Dermatitis severity index and quality of life by either the Children's Dermatology Life Quality Index or the Infants' Dermatitis Quality of Life index depending on the patient's age. Analysis of covariance was measured. No significant difference was found in the percentage change of severity or quality of life between the groups.


Asunto(s)
Dermatitis Atópica/diagnóstico , Dermatitis Atópica/tratamiento farmacológico , Fármacos Dermatológicos/uso terapéutico , Atención al Paciente/métodos , Calidad de Vida , Administración Tópica , Factores de Edad , Niño , Preescolar , Intervalos de Confianza , Sistemas de Liberación de Medicamentos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Análisis Multivariante , North Carolina , Probabilidad , Valores de Referencia , Medición de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Perfil de Impacto de Enfermedad , Resultado del Tratamiento
16.
J Appl Toxicol ; 28(4): 535-42, 2008 May.
Artículo en Inglés | MEDLINE | ID: mdl-18004718

RESUMEN

OBJECTIVE: The grafting of human scalp hair was used as a new application of this method to explore methyl mercury incorporation into human hair and to validate this model for mercury monitoring in hair. METHODS: Human scalp grafts were transplanted to athymic BALB/c nude mice. The animals were exposed to methyl mercury either as a single dose i.p. or continuously for 4 months, using ALZET osmotic pumps. The mercury concentration in hair was determined using x-ray fluorescence (XRF) spectrometry by segmental (2 mm) analysis of a single strand, and tissue concentrations were measured by cold vapor atomic absorption analysis. RESULTS: Human scalp hair grown in nude mice showed long-term persistence of human features including the expression of histocompatibility antigens (KAB 3, W 6/32, SF 1-1.1.1) and normal hair morphometry. The disposition of methyl mercury in nude mice followed a one-compartment model with a whole body elimination half-life of 6.7 days (elimination constant, k = 0.1/day). Autoradiographic studies revealed that methyl mercury was rapidly incorporated into areas of the hair follicle undergoing active keratinization. Methyl mercury concentrations in human hair transplanted onto nude mice were two orders of magnitude higher than in blood and attained a mean hair: blood ratio of 217 : 1, similar to ratios reported only in human studies. CONCLUSIONS: This study demonstrated that human hair grown on nude mice can record the level of exposure to methyl mercury and can serve as a valuable research tool to study mercury incorporation into human hair.


Asunto(s)
Monitoreo del Ambiente/métodos , Cabello/metabolismo , Compuestos de Metilmercurio/farmacocinética , Cuero Cabelludo/metabolismo , Animales , Autorradiografía , Femenino , Cabello/embriología , Cabello/crecimiento & desarrollo , Cabello/trasplante , Humanos , Bombas de Infusión , Inyecciones Intraperitoneales , Compuestos de Metilmercurio/administración & dosificación , Ratones , Ratones Endogámicos BALB C , Ratones Desnudos , Modelos Biológicos , Reproducibilidad de los Resultados , Cuero Cabelludo/embriología , Cuero Cabelludo/crecimiento & desarrollo , Cuero Cabelludo/trasplante , Espectrometría por Rayos X , Espectrofotometría Atómica
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