[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].

Objective: To analyze the clinical and genetic features of primary hypertrophic osteoarthropathy (PHO). Methods: The clinical data of one Chinese pedigree of PHO, namely pachydermoperiostosis (PDP) were collected.Blood samples were drawn from the propositus and other family members.DNA was extracted and genetic analysis was performed by Sanger method after PCR.The sequencing data of HPGD gene exons were analyzed by alignment with sequences from National Center for Biotechnology Information (NCBI). Results: (1)The propositus represented symptoms in childhood including clubbing fingers, sweating, seborrhea, joint swelling and so on.Periosteal thickening and bone hyperplasia were found by X-ray. (2)The homozygous mutation named c. 310_311delCT in propositus, which located in the third exon of HPGD, was identified.His parents carried the same heterozygous mutation, while his sister did not inherit any mutation of this gene. (3)The prediction of spatial structure of proteins revealed that the mutant proteins had about 60% discrepancy compared with wild-type protein, losing a lot of motifs responsible for combining with coenzyms and prostaglandin E(2), as well as active sites of enzymes. Conclusions: The clinical manifestations and imaging findings are helpful to diagnose PDP. Moreover gene mutation analysis ensures the diagnosis.The structure and function of HPGD gene mutation induce 15-hydroxy prostaglandin dehydrogenase mutation, contributing to the occurrence of PDP.

[Nuclear ultrastructure and histocytologic features of thyroid papillary carcinoma].

Nuclear ultrastructure and histo-cytologic features of 5 cases of thyroid papillary carcinoma were studied. Three main ultrastructural features were: (1) the complex folds and invaginations of the nuclear envelope with formation of nuclear lobules and tiny bridges, (2) the intranuclear pseudoinclusions and (3) the abundant euchromatins. Under the light microscope, as mentioned above in (1), the findings were observed as the indentation of nuclear envelope and deep nuclear groove, (2) was shown as the intranuclear eosinophilic globular body and (3) as the ground-glass appearance of nucleus. The intranuclear eosinophilic globular bodies could be seen on the routine and frozen sections as well as smears. The intranuclear pseudoinclusions and eosinophilic globular bodies, were found in these 5 papillary carcinomas. At the same time, the ultrastructure and histologic features of the follicular cells were observed in 13 cases of colloid adenomas and 9 nodular goiters. None of the follicular cell nuclei showed the three features described above. The intranuclear pseudoinclusion or eosinophilic globular body was not found in any of the ultrathin and histologic sections. These results indicate that in the pathologic diagnosis of thyroid papillary carcinoma, the light microscope has more practical value than the electron microscope. Still does it, especially in the cytologic diagnosis of thyroid puncture before operation.

A universal fluorescence sensing strategy based on biocompatible graphene quantum dots and graphene oxide for the detection of DNA.

A novel and efficient fluorescence sensing platform based on biocompatible graphene quantum dots and graphene oxide was established. It showed high selectivity and sensitivity for DNA detection.