Asunto(s)
Cromosomas Humanos Par 12/genética , Enfermedad de Darier/genética , Mutación Missense , ATPasas Transportadoras de Calcio del Retículo Sarcoplásmico/genética , Adulto , Pueblo Asiatico , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Adulto JovenRESUMEN
Microvenular hemangioma (MVH) is an uncommon benign vascular neoplasm that usually occurs as a solitary asymptomatic red or purple papule, nodule, or plaque with a predilection for the upper extremities. Patients with more than 1 lesion, that is, multiple MVHs, are extremely rare. We describe the clinicopathologic features of 4 Chinese patients who had a rapidly progressive abrupt onset of numerous MVHs numbering in the tens to hundreds. Clinically, the correct diagnosis of MVH could not be made in any of our patients; however, histologic examination revealed the characteristic features of MVH. Immunohistochemical stains were performed in all cases and showed the vessel lining cells to be positive for CD34, CD31, and factor VIII-related antigen. Polymerase chain reaction for human herpesvirus-8 was negative in all cases. The differential diagnosis and review of the literature of patients with multiple MVHs are presented.
Asunto(s)
Hemangioma/patología , Neoplasias Cutáneas/patología , Vénulas/patología , Adulto , Antígenos CD34/análisis , Biomarcadores de Tumor/análisis , Biopsia , China , Diagnóstico Diferencial , Femenino , Hemangioma/inmunología , Hemangioma/virología , Herpesvirus Humano 8/genética , Herpesvirus Humano 8/aislamiento & purificación , Humanos , Inmunohistoquímica , Masculino , Molécula-1 de Adhesión Celular Endotelial de Plaqueta/análisis , Reacción en Cadena de la Polimerasa , Valor Predictivo de las Pruebas , Neoplasias Cutáneas/inmunología , Neoplasias Cutáneas/virología , Vénulas/inmunología , Vénulas/virología , Adulto Joven , Factor de von Willebrand/análisisRESUMEN
Acrodermatitis enteropathica, a rare autosomal recessive disease, manifests as periorificial and symmetrical acral dermatitis, alopecia, and diarrhea due to insufficient zinc uptake by the intestine. Recent research revealed that mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc transporter-like protein, also known as ZIP4. We detected one novel homozygous mutation c.1115T > G in the human SLC39A4 gene in one Chinese patient, which leading to p.L372R of the ZIP4. Homology analysis shows Leu372 in ZIP4 is conserved in Eutheria.
Asunto(s)
Acrodermatitis/genética , Proteínas de Transporte de Catión/genética , Acrodermatitis/diagnóstico , Acrodermatitis/tratamiento farmacológico , Acrodermatitis/fisiopatología , Adolescente , Alopecia , Proteínas de Transporte de Catión/metabolismo , China , Análisis Mutacional de ADN , Diarrea , Eritema , Femenino , Homocigoto , Humanos , Mutación/genética , Linaje , Zinc/deficiencia , Sulfato de Zinc/uso terapéuticoRESUMEN
OBJECTIVE: To investigate the CpG methylation locus and frequency pattern on p16 INK4a gene promoter in epidermis of p16 INK4a methylated patients with psoriasis vulgaris. METHODS: The DNA specimens were obtained from epidermal lesion of 50 plaque psoriatic patients. Methylation specific PCR and DNA sequencing were used to detect the frequency and locus of methylation in p16 INK4a gene promoter region. RESULTS: Approximately 50% CpG was methylated in p16 INK4a methylated patients, methylation was found in specifical locus of p16 INK4a gene promoter. CONCLUSION: The distinct methylation pattern is showed on the p16 INK4a gene promoter region in patients with psoriasis.
Asunto(s)
Islas de CpG/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Metilación de ADN/genética , Regiones Promotoras Genéticas/genética , Psoriasis/genética , Adolescente , Adulto , Anciano , Secuencia de Bases , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Epidermis/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa , Alineación de Secuencia , Proteína p14ARF Supresora de Tumor/genética , Adulto JovenRESUMEN
OBJECTIVE: To perform an comparative proteome analysis of human papillomavirus-infected cervical specimens and to investigate different expressions between high- and low-risk genotypes. METHODS: The cervical specimens were divided into two groups (cervical intraepithelial neoplasia group and condyloma acuminatum group) according to their genotypes. Using comparative proteome technology, high-risk human papillomavirus-infected cervical intraepithelial neoplasia, low-risk human papillomavirus-infected condyloma acuminatum, and normal cervical intraepithelial tissue were compared. The differential expression protein spots were identified by mass spectrometry. RESULTS: Totally 26 differential spots were selected and analyzed, and 22 peptide mass fingerprints (PMF) maps were obtained by MALDI-TOF-MS. Eighteen proteins were preliminarily identified after searching the NCBInr database. The function information of these 18 proteins mainly involved cell metabolism, signal transduction, cell secretion, cell cytoskeleton construction, cell proliferation, and apoptosis. CONCLUSION: The proteomic expressions after the cervical infection of high- or low-risk genotype of human papillomavirus are obviously different.
