OBJECTIVETo explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).

METHODSPeripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.

RESULTSMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.

CONCLUSIONThe genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.

Chromosomes, Human, Pair 10 ; genetics ; Female ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Mutation ; genetics ; Pedigree

OBJECTIVETo explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.

METHODSPeripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.

RESULTSTwo previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.

CONCLUSIONTwo novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Ovarian Diseases ; diagnosis ; genetics ; Pedigree ; Receptors, FSH ; genetics ; Young Adult

Application of fresh herbs is a kind of special forms of traditional Chinese medicine. In China, there is a long and rich experience in clinical application of fresh herbs. Many studies showed that the efficacy of fresh herbs was better than that of dried herbs, but the further study about the difference of their chemical composition, effective components and the overall material basis were few. In this paper, the ideas and methods to study on material basis of the fresh herbs by comparing the difference of the fresh and dry herbs in medicine chemical composition and pharmacological activity of effective components with modern advanced separation, analysis and screening technology under the "Constituent structure theory" were proposed. It was an effectual method for studying on the reasonable development of Chinese medicine and fresh herbs resources.
Chemistry, Pharmaceutical ; trends ; Drugs, Chinese Herbal ; analysis ; chemistry ; Investigational New Drug Application ; methods ; Medicine, Chinese Traditional ; Phytotherapy ; Plants, Medicinal ; Research ; trends

To investigate the expression of hypoxia inducible factor 1-alpha (HIF-1alpha) and its correlation with P53 and vascular endothelial growth factor (VEGF), immunohistochemical technique was employed to detect the protein expressions of HIF-1alpha, P53 and VEGF in specimens from 57 patients with lung cancer. The results indicated that the total positive proportion of HIF-1alpha expression was 63% and the HIF-1alpha expression was more frequent in bronchiole-alveolar carcinoma (86%) than in other lung cancer. There was a strong association of HIF-1alpha with VEGF and P53 protein expressions. It is concluded that HIF-1alpha overexpression is a common event in lung cancer, which may be related to the up-regulation of the angiogenic factor VEGF and oncogene mutant P53 protein.
Adenocarcinoma ; metabolism ; pathology ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Squamous Cell ; metabolism ; pathology ; Female ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; biosynthesis ; genetics ; Lung Neoplasms ; metabolism ; pathology ; Male ; Middle Aged ; Mutation ; Tumor Suppressor Protein p53 ; biosynthesis ; genetics ; Vascular Endothelial Growth Factor A ; biosynthesis ; genetics

OBJECTIVETo evaluate the effect of preoperative transcatheter arterial chemoembolization(TACE) on apoptosis of hepatocellular carcinoma (HCC) cells.

METHODSA total of 136 patients with HCC underwent liver resection. One to five courses of TACE prior to liver resection were performed in 79 patients (TACE group), in which one to four courses of chemotherapy alone were performed in 11 patients (group A), one to five courses of chemotherapy combined with iodized oil were performed in 33 patients (group B), one to three courses of chemotherapy combined with iodized oil and gelatin sponge were performed in 23 patients group C) and one to three courses of chemotherapy combined with iodized oil, ethanol and gelatin sponge were performed in 12 patients (group D). The other 57 patients only received liver resection (non-TACE group). The extent of apoptosis was analyzed by transferase-mediated dUTP nick end labeling (TUNEL) staining. The expressions of Bcl-2 and Bax protein were detected by immunohistochemical method.

RESULTSThe apoptotic index(AI) and level of Bax protein in HCC cells were significantly higher in groups A, B, C and D than those in the non-TACE group (P < 0.05). The level of Bcl-2 protein and ratio of Bcl-2 to Bax protein of HCC cells were significantly lower in Groups A, B, C and D than those in the non-TACE group (P < 0.05).

CONCLUSIONPreoperative TACE regimens may enhance apoptosis of HCC cells by up-regulating the expression of Bax protein and down-regulating the expression of Bcl-2 protein and ratio of Bcl-2 to Bax protein expression.

Adult ; Aged ; Apoptosis ; Carcinoma, Hepatocellular ; chemistry ; pathology ; therapy ; Chemoembolization, Therapeutic ; Ethanol ; administration & dosage ; Female ; Humans ; Iodized Oil ; administration & dosage ; Liver Neoplasms ; chemistry ; pathology ; therapy ; Male ; Middle Aged ; Proto-Oncogene Proteins ; analysis ; Proto-Oncogene Proteins c-bcl-2 ; analysis ; bcl-2-Associated X Protein