[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].

The proband presented with bilateral congenital non-progressive ptosis and limitation of eye rotation since childhood. The diagnosis was congenital fibrosis of the extraocular muscles. A new KIF21 pathogenic mutation locus was found. It was a KIF21A-ex20 c.2821C>T (p.Arg941Trp) heterozygous missense mutation, which caused the disease in this family.

Association between p53 codon 72 polymorphisms and clinical outcome of nasopharyngeal carcinoma.

We conducted a cohort study to investigate whether polymorphisms in p53 at codon 72 are associated with tumor response and survival time of advanced nasopharyngeal carcinoma (NPC) patients treated with radiotherapy. The study population included 127 subjects with NPC who were enrolled at Binzhou Medical University between September 2008 and December 2009. Cox proportional hazard regression was used to assess the association between polymorphisms in the p53 gene and progression-free survival (PFS) and overall survival (OS) of NPC patients. During the follow-up period, 42 patients died and 72 patients showed progression at the end of the study. Of the 127 patients, median PFS was 22.5 ± 1.2 months (1-36 months), and the median OS time was 28.2 ± 1.1 months (2-36 months). The p53 codon 72 Pro/Pro genotype was associated with a longer median PFS time of 30.3 months compared with 18.2 months for patients with Arg/Arg variants. Moreover, the p53 codon 72 Pro/ Pro genotype was associated with a longer median OS time of 31.6 months compared with 25.8 months for those with Arg/Arg variants; the P value was marginally significant. We showed that variants in p53 codon 72 may be an independent predictor for PFS and OS of NPC patients.

Serum human epididymis protein 4 is associated with the treatment response of concurrent chemoradiotherapy and prognosis in patients with locally advanced non-small cell lung cancer.

AIM: To investigate the role of human epididymis protein 4 (HE4) in the diagnosis and prognosis of patients with locally advanced non-small cell lung cancer (LA-NSCLC) receiving concurrent chemoradiotherapy (CRT). METHODS: A total of 218 patients with LA-NSCLC were enrolled. All patients underwent CRT. The treatment response to CRT was evaluated. The prognosis analysis was performed using relapse-free survival (RFS) and overall survival [1]. RESULTS: Our data show that the serum HE4 can discriminate patients who respond well to CRT from those who respond poorly. Higher serum HE4 had dramatically increased risk of being non-responders to CRT. Serum HE4 level is also associated with prognosis of patients after CRT. Patients with high HE4 level had shorter RFS and OS compared to those with low HE4 level. CONCLUSION: Our data suggest that serum HE4 may be a useful prognostic biomarker for LA-NSCLC patients who underwent CRT.

[Imaging diagnosis of splenic metastasis].

The splenic metastasis of malignant diseases is uncommon. The relative paucity of this condition is thought to be due to the property of the spleen as an organ of immunity and the sharp angle of the splenic artery at its origin from the coeliac axis making it difficult for the tumor emboli to enter the spleen. The primary sites of 15 splenic metastases were: 7 (43%) ovarian tumors, and 8 (57%) others. All 15 patients had been repeatedly examined by ultrasonography. 6 patients were shown to give hyperechoic, 6 hypoechoic and 3 nonechoic findings. 10 patients had been examined by CT scan. Except one splenic metastasis of malignant teratoma with calcification, reduced density lesions were seen on ordinary and enhanced CT scans in all. We are of the opinion ther the most common route of splenic metastasis is hematogenous or direct seeding. The high incidence of splenic metastasis in gynecologic tumors may be related to their particular biologic behavior of being prone to direct seeding.

[Unusual imaging findings of renal angiomyolipoma with giant pseudoaneurysm and intrarenal perirenal hemorrhage].

Two patients with unusual findings of renal angiomyolipoma (AML) were reported. One had intratumoral giant pseudoaneurysm with mural thrombus and hemorrhage, the other had intrarenal and perirenal hemorrhage, due to vascular malformation, rupture of small aneurysms and pseudoaneurysms within the tumor. Since imaging techniques such as CT, ultrasonography, MRI are being so commonly used, the detectability of renal AML is increased. Understanding of the various composition of renal AML and their accompanied pathology is most helpful in improving the accuracy of imaging diagnoses.

Influences of Sr dose on the crystal structure parameters and Sr distributions of Sr-incorporated hydroxyapatite.

Stoichiometric strontium-incorporated hydroxyapatite (Sr-HA) with different Sr concentrations [Sr/(Sr+Ca)] were synthesized using a wet chemical approach and characterized by X-ray diffraction, Fourier-transformed infrared absorption, X-ray photoelectron spectroscopy, and Rietveld Structure Refinement. The crystal lattice parameter, Sr distribution, chemical state of Sr, and also the relationships between their variations and the Sr concentrations have been intensively studied. The results show that both the crystal lattice parameters and crystal plane space of Sr-HA remarkably increase with the Sr concentration increasing. Whether Sr preferably occupies the Ca(I) site or Ca(II) site after incorporated into apatite lattice depends on the Sr number incorporated into apatite. All the Sr ions completely occupy the Ca(II) sites when the Sr concentration is below 5%. With the exception of partial Sr ions occupying the Ca(II) sites, the other Sr ions start to occupy the Ca(I) sites when the Sr concentration doped in HA is beyond 10%. The ratio of Sr ions occupying the Ca(I) sites increases with the further raising Sr concentration up to 20%. The Sr ions inherit the chemical state and environment of the original Ca(I) or Ca(II) site after incorporated into apatite.