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1.
Nat Genet ; 42(11): 1005-9, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20953187

RESUMO

We extended our previous genome-wide association study for psoriasis with a multistage replication study including 8,312 individuals with psoriasis (cases) and 12,919 controls from China as well as 3,293 cases and 4,188 controls from Germany and the United States and 254 nuclear families from the United States. We identified six new susceptibility loci associated with psoriasis in the Chinese study containing the candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8 and ZNF816A (combined P < 5 × 10⁻8) and replicated one locus, 5q33.1 (TNIP1-ANXA6), previously reported (combined P = 3.8 × 10⁻²¹) in the European studies. Two of these loci showed evidence for association in the German study at ZNF816A and GJB2 with P = 3.6 × 10⁻³ and P = 7.9 × 10⁻³, respectively. ERAP1 and ZNF816A were associated with type 1 (early onset) psoriasis in the Chinese Han population (test for heterogeneity P = 6.5 × 10⁻³ and P = 1.5 × 10⁻³, respectively). Comparisons with the results of previous GWAS of psoriasis highlight the heterogeneity of disease susceptibility between the Chinese and European populations. Our study identifies new genetic susceptibility factors and suggests new biological pathways in psoriasis.


Assuntos
Povo Asiático/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Psoríase/genética , Aminopeptidases/genética , Conexina 26 , Conexinas/genética , Replicação do DNA , Alemanha/epidemiologia , Humanos , Proteínas de Membrana/genética , Antígenos de Histocompatibilidade Menor , Proteínas de Neoplasias/genética , Securina , Serpinas/genética , Proteínas Supressoras de Tumor , Estados Unidos/epidemiologia
2.
Zhonghua Zhong Liu Za Zhi ; 30(12): 901-4, 2008 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-19173989

RESUMO

OBJECTIVE: To investigate the characteristics of freshly resected laryngeal carcinoma by Fourier transform infrared spectroscopy (FTIR). METHODS: FTIR was applied to the study of the cancerous tissues and adjacent normal tissues in 32 patients. RESULTS: Compared with pathological diagnosis results, one benign specimen was classified as a malignant, the accuracy was 98.4%. Significant differences were seen in the FTIR spectra between the normal and malignant laryngeal tissues. The peak at 1085 cm(-1) shift to 1114 cm(-1) showed that the relative contents of DNA in laryngeal carcinoma cells was increased. The peak at 1397 cm(-1) was stronger than 1451 cm(-1) in normal tissues, while it was not obvious in cancer tissues. I(2926)/I(2870) in carcinoma cells was lower than that in normal tissues. The wave numbers of the bands of amide I and amide II, symmetric and asymmetric stretching bands of CH(3), stretching vibration bands of C-OH and NH band were shifted to higher number in cancer tissues. CONCLUSION: The study shows that the malignant and normal laryngeal tissues have different FTIR spectra, which are mainly due to changes in protein, nucleic acid and phospholipids. FTIR may become a new method for the diagnosis of laryngeal carcinoma in clinical practice.


Assuntos
Neoplasias Laríngeas/química , Neoplasias Laríngeas/diagnóstico , Laringe/química , Proteínas de Neoplasias/análise , Espectroscopia de Infravermelho com Transformada de Fourier/métodos , Humanos , Neoplasias Laríngeas/patologia , Laringe/patologia , Ácidos Nucleicos/análise , Fosfolipídeos/análise
3.
Zhonghua Wai Ke Za Zhi ; 43(21): 1414-7, 2005 Nov 01.
Artigo em Chinês | MEDLINE | ID: mdl-16318784

RESUMO

OBJECTIVE: To investigate the clinical applied anatomy in the region of anterior clinoid process, and to improve the therapeutic efficacy of clinoidal tumors. METHODS: Twelve patients with large meningiomas located in clinoid were surgically treated via the extended anterior and middle fossa combined with epidural approach between January 1998 and August 2004. The surgical outcome and follow-up results were reviewed retrospectively. Supraorbital-posterional approach and cranioorbital zygomatic approach were used when tumors involved cavernous sinus. Anterior clinoid process was grinded with high-speed drilling. Supply of tumors were blocked extradurally. Tumors were resected intradurally. RESULTS: Of the 12 cases in large meningiomas located in clinoid, 8 cases had total removal of tumors, 3 patients had subtotal removal. Of the 10 patients with pre-operative severe visual deterioration, 6 patients was markedly improved, one patient unchanged and one patient worsened post-operatively. No death was found in this group. CONCLUSIONS: Using epidural approach for clinoidal meningiomas and grinding anterior clinoid process was advantageous to block tumors base blood supply and detach infraclinoidal tumors from internal carotid artery. Supraorbital-pterional approach could minimize brain retraction and was advantageous to expose superior pole of giant tumors.


Assuntos
Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adulto , Feminino , Humanos , Masculino , Neoplasias Meníngeas/patologia , Meningioma/patologia , Pessoa de Meia-Idade , Estudos Retrospectivos , Osso Esfenoide/cirurgia , Resultado do Tratamento
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