Mutation analysis of ATP2C1 gene in Chinese families with Hailey-Hailey disease / 中华皮肤科杂志

Objective To detect the mutations in ATP2C1 gene in 3 Chinese Hailey-Hailey-disease (HHD) families and 1 sporadic HHD patient.Methods Three Chinese HHD families and 1 sporadic HHD patient were recruited into this study with informed consent.Blood samples were taken from the patients with HHD,unaffected individuals in the HHD families and 100 unrelated normal human controls.Genomic DNA was extracted from these blood samples.All the exons and exon-intron boundaries of the ATP2C1 gene were amplified by PCR followed by direct sequencing via dye-termination chemistry.Results Three novel missense mutations in ATP2C1 gene were identified,including a 2048 G→A mutation in exon 20 causing the substitution of arginine by lysine at position 619 in the patients from HHD family 1,853A→C mutation in exon 8 causing the substitution of threonine by proline at position 221 in the patients from family 2,and 2323T→C mutation in exon 23 causing the substitution of tyrosine by histidine at position 711.None of these mutations were found in patients from the HHD family 3,unaffected individuals from the HHD family 1 and 2,or the unrelated normal human controls.Conclusion Three novel missense mutations are identified in the ATP2C 1 gene of patients with HHD.

The value of MR in the diagnosis of primary splenic lymphoma / 中国基层医药

Objective To evaluate the value of MR in the diagnosis of primary splenic lymphoma (PSL).Methods The MR imaging features of 3 PSL cases proved by pathology were retrospectively reviewed. Results Three cases were all pathologically diagnosed as B-cell non-Hodgkin's lymphoma(NHL). Two cases were multiple node shape and one was massive shape. Unenhanced MR imaging revealed heterogeneous splenic enlargement, with large nodules showing iso-hyperinternse on T1WI and hypointense on T2WI. Linear hyperintense on T1WI and T2WI was seen on the spleen peripherous. The spleen vascular was infiltrated. CE-MRI showed heterogeneous enhancement of spleen with iso-hypointense. The focus of postperitoneal showed medial enhancement. Immunohistochemistry-showed 2 cases of diffuse B cell. The CD20 and CD19 α of tumor cell showed diffuse( + ) ,CD3 ,CD5 individual( + ) ,CD43 ( + ) ,CD45RO( + ), CD10 ( +/- ), Mum ( + ), MAC387 individual ( + ), 1 case of B lymphocell type, CD79α ( + ) ,CD23( + ) ,CD38( + ) ,λ( + ). Conclusion The MR imaging features of PSL were characteristic and helpful in the diagnosis of PSL, but the correct diagnosis was still dependent on the pathology and immunohistochemical staining.