OBJECTIVETo analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene.

METHODSClinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. Swiss-Port was used to predict the tertiary structure of wild type and mutant proteins. The mRNA and protein expression were analyzed by real-time PCR and Western blotting.

RESULTSA homozygous mutation c.901G>A (p.G301S) in exon 7 of CTSC gene was identified in the patient. Both parents of the patient had carried a heterozygous c.901G>A mutation. The mutation was located in the conserved region of CTSC enzyme and was predicted to be damaging by changing the structure of the protein, which could affect the activity of Cathepsin C. However, no significant difference was found in the expression of p.G301S variant at the mRNA and protein levels compared with that of the wild type CTSC gene.

CONCLUSIONThe c.901G>A mutation of the CTSC gene was first reported in China, which has expanded its mutation spectrum.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Cathepsin C ; genetics ; Child, Preschool ; China ; Exons ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Papillon-Lefevre Disease ; enzymology ; genetics ; Pedigree

OBJECTIVETo evaluate the value of intraoperative fine needle aspiration cytology (IFNAC) examination in the diagnosis of pancreatic lesions.

METHODSThe clinicopathological data of 491 patients with pancreatic lesions treated in our hospital from May 1998 to June 2013 were retrospectively analyzed. Their clinical features, IFNAC findings, pathological results after IFNAC examination and related complications were summarized. The factors affecting the aspiration biopsy accuracy were analyzed using logistic regression and multi factor analysis.

RESULTS491 patients with pancreatic lesions were examined by IFNAC. Among them, cancer cells were found in 434 cases (positive), and were not found in 57 cases (negative). Among the 310 cases who underwent surgical operation, postoperative pathology confirmed 209 cases of pancreatic ductal adenocarcinoma, 8 cases of pancreatic cystadenocarcinoma, 23 cases of solid pseudopapillary tumor of the pancreas, 15 cases of pancreatic neuroendocrine tumor, 14 cases of intraductal papillary mucinous tumor, 2 cases of primary pancreatic gastrointestinal stromal tumor, 17 cases of pancreatic serous cystadenoma, and 22 cases of chronic mass-forming type pancreatitis. The IFNAC test showed a sensitivity of 97.9% (425/434), and specificity of 89.5% (51/57). The IFNAC examination-related complications were pancreatic leakage in a total of 12 patients which were cured after treatment. No bleeding complication was observed. Logistic multivariate analysis showed that tumor size, cystic degeneration, lymph node metastasis and associated chronic pancreatitis are independent factors affecting the IFNAC examination of pancreatic carcinoma.

CONCLUSIONSIFNAC examination has a high sensitivity and specificity, and with a good safety in clinical use. IFNAC can be used as a powerful tool for the diagnosis of pancreatic cancer, with a high clinical value in use. In the cytology-negative cases, cytology alone can not rule out the diagnosis of pancreatic cancer. Through repeated sampling and combined with intraoperative frozen section pathology can improve the diagnostic accuracy.

Biopsy, Fine-Needle ; Biopsy, Needle ; Carcinoma, Pancreatic Ductal ; diagnosis ; pathology ; Cystadenoma, Serous ; diagnosis ; pathology ; Frozen Sections ; Humans ; Pancreas ; pathology ; Pancreatic Neoplasms ; diagnosis ; pathology ; Retrospective Studies ; Sensitivity and Specificity

OBJECTIVETo investigate the apatite forming ability of pure titanium implant after micro-arc oxidation treatment in simulated body fluid (SBF) and obtain implants with calcium phosphate (Ca-P) layers.

METHODSThe implants were immersed in (SBF) after micro-arc oxidation treatment for different time lengths, and their apatite forming ability and the morphology and constituents of the Ca-P layers formed on the sample surface were analyzed using X-ray diffraction, scanning electron microscopy, X-ray photoelectron spectroscopy, and energy dispersive electron probe.

RESULTSAfter immersion in SBF, large quantities of Ca-P layers were induced on the surface of the samples. The Ca-P layers were composed of octacalcium phosphate and carbonated hydroxyapatite, and the crystals showed a plate-like morphology with an oriented growth.

CONCLUSIONThe implants with micro-arc oxidation treatment show good apatite forming ability on the surface with rich calcium and phosphorus elements. The formed layers are composed of bone-like apatite including octacalcium phosphate and carbonated hydroxyapatite.

Apatites ; chemistry ; Biomimetic Materials ; chemistry ; Body Fluids ; chemistry ; Calcium Phosphates ; chemistry ; Coated Materials, Biocompatible ; chemistry ; Durapatite ; chemistry ; Oxidation-Reduction ; Prostheses and Implants ; Random Allocation ; Surface Properties ; Titanium ; chemistry