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1.
Br J Dermatol ; 178(4): 969-972, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-28301045

RESUMEN

Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which around one in 20 affected individuals show autosomal dominant inheritance. In such cases there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14), which activates the noncanonical nuclear factor (NF)-κB pathway, thereby promoting cutaneous inflammation. Here we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins 12 and 23, in both patients. A 49-year-old woman and her 20-year-old son had lifelong, generalized, patchy erythematous scale with a few islands of sparing, as well as minor nail ridging and mild palmoplantar keratoderma, features consistent with generalized PRP. Topical steroids, phototherapy and oral retinoids proved ineffective. Following informed consent, Sanger sequencing of CARD14 in both individuals revealed a new heterozygous single-nucleotide transversion in exon 4, c.356T>G, resulting in the missense mutation p.Met119Arg. Ustekinumab, at a dose of 45 mg every 12 weeks, brought about a significant physical and emotional improvement in both the mother and son within a few days of the initial dose, which was sustained on maintenance dosing. This report highlights the therapeutic potential of biologics that downregulate NF-κB signalling in familial PRP with mutations in CARD14.


Asunto(s)
Proteínas Adaptadoras de Señalización CARD/genética , Fármacos Dermatológicos/uso terapéutico , Guanilato Ciclasa/genética , Proteínas de la Membrana/genética , Mutación Missense/genética , Pitiriasis Rubra Pilaris/tratamiento farmacológico , Ustekinumab/uso terapéutico , Femenino , Humanos , Hallazgos Incidentales , Masculino , Persona de Mediana Edad , Linaje , Pitiriasis Rubra Pilaris/genética , Adulto Joven
4.
Int J Cosmet Sci ; 38(3): 319-24, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26663436

RESUMEN

OBJECTIVE: The seed coat of black soya bean (SCBS) contains high amount of anthocyanins and shows antioxidant and anti-mushroom tyrosinase activities. The objectives of this study were to analyse the anthocyanins in SCBS with different solvents and to find the relationship between anthocyanin profile with anti-human and anti-mushroom tyrosinase activities. METHODS: SCBS was extracted with hot water, 50 and 80% ethanol, 50 and 80% acetone and 50 and 80% acidified acetone. Total phenol and total flavonoid contents in the extracts were determined. Anthocyanins in the extracts were analysed using HPLC and LC/MS/MS. A genetically engineered human tyrosinase was used to evaluate the anti-tyrosinase potential of the extracts from SCBS. RESULTS: 80% acetone extract from SCBS obtained the highest total phenol, total flavonoid and cyanidin-3-O-glucoside (C3G) contents among all the extracts, whereas the hot water extract showed the lowest antioxidant contents. Three anthocyanin compounds were found in all the extracts from SCBS, and the analysis of HPLC and LC/MS/MS indicated that they were C3G, delphinidin-3-O-glucoside (D3G) and peonidin-3-O-glucoside (P3G). The ratios of C3G (2.84 mg g(-1) ), D3G (0.34 mg g(-1) ) and P3G (0.35 mg g(-1) ) in 80% acidified acetone extract were 76.6, 9.1 and 9.3%, respectively. All the extracts from SCBS possessed anti-human tyrosinase activity. Moreover, a good correlation was found between the anti-human tyrosinase activities and C3G contents in the extracts. CONCLUSION: Antioxidants in SCBS also possess anti-human and anti-mushroom tyrosinase activities.


Asunto(s)
Antocianinas/análisis , Antioxidantes/farmacología , Glycine max/embriología , Monofenol Monooxigenasa/antagonistas & inhibidores , Extractos Vegetales/farmacología , Semillas/química , Humanos
5.
Br J Dermatol ; 172(4): 1111-5, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25234635

RESUMEN

The physiology of human skin pigmentation is varied and complex, with an extensive melanogenic paracrine network involving mesenchymal and epithelial cells, contributing to the regulation of melanocyte survival and proliferation and melanogenesis. Mutations in several genes, involving predominantly the KIT ligand/c-Kit and Ras/mitogen-activated protein kinase signalling pathways, have been implicated in a spectrum of diseases in which there is hyperpigmentation, hypopigmentation or both. Here, we report on a 12-year-old girl from Taiwan with a 6-year history of diffuse progressive skin hyperpigmentation resulting from a different aetiology: an inborn metabolic disorder of vitamin B12 (cobalamin), designated cblJ. Using whole-exome sequencing we identified a homozygous mutation in ABCD4 (c.423C>G; p.Asn141Lys), which encodes an ATP-binding cassette transporter with a role in the intracellular processing of cobalamin. The patient had biochemical and haematological evidence of cobalamin deficiency but no other clinical abnormalities apart from a slight lightening of her previously black hair. Of note, she had no neurological symptoms or signs. Treatment with oral cobalamin (3 mg daily) led to metabolic correction and some reduction in the skin hyperpigmentation at the 3-month follow-up. This case demonstrates that defects or deficiencies of cobalamin should be remembered in the differential diagnosis of diffuse hyperpigmentary skin disorders.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Hiperpigmentación/genética , Errores Innatos del Metabolismo/genética , Mutación/genética , Polimorfismo de Nucleótido Simple/genética , Deficiencia de Vitamina B 12/genética , Niño , Femenino , Homocigoto , Humanos , Hiperpigmentación/tratamiento farmacológico , Errores Innatos del Metabolismo/tratamiento farmacológico , Vitamina B 12/uso terapéutico , Deficiencia de Vitamina B 12/tratamiento farmacológico , Complejo Vitamínico B/uso terapéutico
9.
Hautarzt ; 66(3): 189-94, 2015 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-25744530

RESUMEN

Human Demodex mites (Demodex folliculorum and Demodex brevis) are unique in that they are an obligate human ectoparasite that can inhabit the pilosebaceous unit lifelong without causing obvious host immune response in most cases. The mode of symbiosis between humans and human Demodex mites is unclear, while the pathogenicity of human Demodex mites in many inflammatory skin diseases is now better understood. Primary human demodicosis is a skin disease sui generis not associated with local or systemic immunosuppression. Diagnosis is often underestimated and differentiation from folliculitis, papulopustular rosacea and perioral dermatitis is not always straightforward. Dependent on the morphology and degree of inflammation, the clinical manifestations can be classified into spinulate, papulopustular, nodulocystic, crustic and fulminant demodicosis. Therapy success can be achieved only with acaricides/arachidicides. The effective doses, optimal regimen and antimicrobial resistance remain to be determined.


Asunto(s)
Acaricidas/administración & dosificación , Infestaciones por Ácaros/diagnóstico , Infestaciones por Ácaros/tratamiento farmacológico , Enfermedades Cutáneas Parasitarias/diagnóstico , Enfermedades Cutáneas Parasitarias/tratamiento farmacológico , Diagnóstico Diferencial , Humanos , Infestaciones por Ácaros/parasitología , Enfermedades Cutáneas Parasitarias/parasitología
14.
Br J Dermatol ; 161(2): 448-51, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19416262

RESUMEN

BACKGROUND: Mutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population. OBJECTIVES: To elucidate filaggrin mutations in the Taiwanese population and further to clarify the population genetics of filaggrin gene mutations in the Asian populations. METHODS: In the present study, 12 individuals from four unrelated Taiwanese IV families were examined for FLG mutations. We carried out comprehensive sequencing of the entire FLG coding region using an overlapping polymerase chain reaction strategy. RESULTS: We identified three FLG mutations in the Taiwanese IV families. One mutation E1795X was a previously unidentified FLG mutation, which might be specific to the Taiwanese. Interestingly, another FLG mutation 3321delA is prevalent in the Japanese population and the other mutation Q2417X was found in the Singaporean Chinese population. No FLG mutation identified in the white European population was found in the Taiwanese population. CONCLUSIONS: The present findings suggest that the Taiwanese population, as an East Asian group, share FLG mutations with both the Japanese and the Singaporean Chinese population. In addition, these results exemplify differences in the population genetics of filaggrin between Europe and Asia.


Asunto(s)
Ictiosis Vulgar/genética , Proteínas de Filamentos Intermediarios/genética , Mutación/genética , Pueblo Asiatico/genética , Femenino , Proteínas Filagrina , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Ictiosis Vulgar/etnología , Masculino , Linaje , Reacción en Cadena de la Polimerasa , Taiwán/etnología , Población Blanca/genética
16.
Clin Microbiol Infect ; 13(2): 196-198, 2007 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17328733

RESUMEN

Nosocomial infections caused by Acinetobacter baumannii have increased in recent years. Isolates of multidrug-resistant A. baumannii (MDRAB) have been recovered in Taiwan since 1999. The characteristics of 55 patients with MDRAB bacteraemia infections occurring between January 2003 and February 2005 were analysed retrospectively. The overall 30-day mortality rate was 49%. The portal of entry was identified in 80% of patients, with the respiratory tract being implicated most frequently. Among the different antimicrobial regimens prescribed, the combination of a carbapenem and ampicillin-sulbactam was associated with a better outcome than the combination of a carbapenem and amikacin, or a carbapenem alone.


Asunto(s)
Infecciones por Acinetobacter/tratamiento farmacológico , Acinetobacter baumannii/efectos de los fármacos , Antibacterianos/uso terapéutico , Bacteriemia/tratamiento farmacológico , Farmacorresistencia Bacteriana Múltiple , Sulbactam/uso terapéutico , Infecciones por Acinetobacter/microbiología , Infecciones por Acinetobacter/mortalidad , Amicacina/uso terapéutico , Ampicilina/uso terapéutico , Carbapenémicos/uso terapéutico , Femenino , Fluoroquinolonas/uso terapéutico , Humanos , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento
18.
Nucleic Acids Res ; 27(15): 3111-9, 1999 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-10454607

RESUMEN

The biologically active synthetic retinoid CD437 (6-[3-adamantyl-4-hydroxyphenyl]-2-naphthalene, AHPN) and different human breast carcinoma (HBC) cell lines were used to examine the possible mechanism(s) of gadd45 induction. Northern blot analysis of mRNA isolated from MCF-7, MDA-MB-468 and MDA-MB-231 HBC cell lines demonstrated a progressive increase in the 1.4 kb gadd45 transcript after exposure to 1 microM CD437. Western blot analysis showed increased gadd45 protein levels in MDA-MB-468 HBC cells following exposure to CD437. CD437 increased gadd45 mRNA levels by approximately 20-fold in MDA-MB-468 cells, however, the transcriptional activity was increased approximately 2-3-fold as demonstrated by the human gadd45 promoter-luciferase reporter construct and nuclear run-off assays. Sublines of MDA-MB-468 HBC cells expressing stably integrated GADD45 cDNA fragments were obtained and CD437-dependent induction of GADD45 analyzed. We report that approximately 300 nt located in the 5"-untranslated region (5"-UTR) of gadd45 mRNA are involved in the CD437-dependent 4-fold enhanced stability of gadd45 transcripts. MDA-MB-468 cells were stably transfected with either a plasmid having a CMV promoter-driven rabbit beta-globin gene or plasmids having a CMV promoter-driven chimeric gadd45 5"-UTR-rabbit beta-globin gene, where the entire gadd45 5"-UTR (from +1 to +298) or a 45 bp subfragment of the gadd45 5"-UTR (from +10 to +55) was positioned at the 5"-end of the rabbit beta-globin gene. CD437 was found to up-regulate expression of both the chimeric gadd45 -rabbit beta-globin transcripts, suggesting that cis element(s) involved in the CD437-dependent enhanced stability of gadd45 mRNA are contained in the 45 nt of the 5"-UTR of the gadd45 mRNA.


Asunto(s)
Antineoplásicos/farmacología , Neoplasias de la Mama/genética , Daño del ADN , Regulación Neoplásica de la Expresión Génica/efectos de los fármacos , Proteínas/genética , Retinoides/farmacología , Regiones no Traducidas 5'/genética , Animales , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Daño del ADN/genética , Globinas/genética , Globinas/metabolismo , Semivida , Humanos , Péptidos y Proteínas de Señalización Intracelular , Mutación , Regiones Promotoras Genéticas/genética , Proteínas/metabolismo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Conejos , Proteínas Recombinantes de Fusión/genética , Factores de Tiempo , Transcripción Genética/efectos de los fármacos , Transcripción Genética/genética , Transfección , Células Tumorales Cultivadas , Regulación hacia Arriba/efectos de los fármacos , Proteinas GADD45
19.
Cancer Res ; 57(22): 5129-36, 1997 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-9371514

RESUMEN

The cyclin-dependent kinase inhibitor p21WAF1/CIP1 plays a major role in the induction of G1 cell cycle arrest following DNA damage and is known to be regulated by p53-dependent and -independent pathways. Here, we show that p21WAF1/CIP1 transcription is also regulated, independently of p53, by the cis elements that are located downstream of the transcription start site. A cDNA fragment of approximately 180 bp, located 260 bases 3' to the translation termination codon of p21WAF1/CIP1 cDNA, was cloned in both the sense and antisense orientations downstream of the CMV promoter, upstream of the SV40 promoter, and both upstream and downstream of the p21WAF1/CIP1 promoter in the plasmids carrying the luciferase reporter gene. The constructs were transiently transfected in human breast carcinoma cells MCF-7 and MDA-MB-468 and a Syrian hamster smooth muscle cell line DDT1MF2 and were found to elicit 2-3-fold or higher repression of luciferase activities. By using overlapping deletions of the above 180-bp fragment, we identified a 48-bp subfragment that contains putative cis element(s) that participate in the transcriptional repression of the p21WAF1/CIP1 gene. The overlapping subfragments bind, in vitro, to specific proteins present in the nuclear extracts of MDA-MB-468 and DDT1MF2 cells. We, therefore, propose that additional mechanism(s) exist that regulate expression of the cellular p21WAF1/CIP1 and may contribute to p21WAF1/CIP1-dependent control of the cell cycle.


Asunto(s)
Ciclinas/genética , ADN Complementario/genética , ARN Mensajero/genética , Proteínas Represoras/genética , Transcripción Genética , Animales , Cricetinae , Inhibidor p21 de las Quinasas Dependientes de la Ciclina , Ciclinas/metabolismo , Genes Reporteros , Vectores Genéticos/genética , Humanos , Luciferasas/genética , Luciferasas/metabolismo , Proteínas Nucleares , Proteínas Represoras/fisiología , Virus 40 de los Simios/genética , Transfección
20.
Cancer Res ; 38(1): 130-6, 1978 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-271042

RESUMEN

The occurrence of a granulocytic leukemia in 1 of 40 female strain 13/N guinea pigs given N-nitroso-N-butylurea continuously in their drinking water for 21 weeks is reported here. This leukemia has been successfully transplanted in this guinea pig strain for 13 transplant generations by i.p. inoculation of leukemic blood or marrow cells. Macroscopically and microscopically, this leukemia resembles the chronic myelogenous form in humans. Histochemical studies showed, however, that unlike the human leukemic cells those in the leukemic guinea pigs are alkaline phosphatase positive. Electron microscopic studies of the guinea pig leukemic cells revealed the presence of numerous intracisternal A-type particles that are not found in corresponding normal leukocytes.


Asunto(s)
Leucemia Mieloide/patología , Fosfatasa Alcalina/metabolismo , Animales , Femenino , Granulocitos/patología , Cobayas , Cuerpos de Inclusión Viral , Leucemia Experimental/patología , Leucemia Mieloide/inducido químicamente , Leucemia Mieloide/enzimología , Trasplante de Neoplasias , Compuestos de Nitrosourea , Trasplante Homólogo
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