Background About one third of congenital cataract is associated with inheriting factor.The inherited heterogeneity has been found in congenital cataract.To seek the pathogenic gene is essential for the gene therapy. Objective Present study was to map and identify the causal gene for autosomal dominant congenital cataract (ADCC) in a Chinese family. Methods The clinical features of all affected members in this family were examined.Blood samples were collected from eleven family members for genetic linkage analysis.Polymorphic microsatellite markers were selected from the regions which harbor all known loci linked with ADCC.Universal fluorescent-labeled M13 primer was used in linkage analysis.Direct genomic sequencing was used to evaluate the candidate gene for example CRYBB2 gene.This study followed Helsinki Declaration and was proved by Tianjin City Ethic Committee.Written informed consent was obtained from each SUbject before any medical procees. Results The maximum two-point LOD score of 1.20 was obtained for marker D22S315 (θ=0).The LOD score of 0.6 was obtained for marker D16S3068.No mutation in all exons of CRYBB2 gene was found in the family. Conclusion CRYBB2 gene associated with ADCC was excluded from the family.A genome-wide linkage screening should be conducted.Genotyping with microsatellite markers using Universal fluorescent-labeled M13 primer can decrease the cost and obtain the same result.

OBJECTIVE: To investigate the numbers, sizes and types distribution of diatoms in drowned and postmortem immersed rabbits' lungs. METHODS: Sixty-two rabbits were randomly divided into drowning group (n = 30), postmortem immersion group (n = 30) and land death group (n=2), and the diatoms in each lung lobe were analyzed quantitatively and qualitatively by microwave digestion and scanning electron microscopy. RESULTS: In the drowning group, the diatoms were detected in each lung lobe with Cyclotella and Melosira in the majority. In the postmortem immersion group, Cyclotella was in the majority. And the diatoms weren't detected in some lung lobes in postmortem immersion. There were significant differences in the detection rates of upper lobe of left lung, middle lobe and cardiac lobe of right lung in two groups (P < 0.05). CONCLUSION Based on the microwave digestion and scanning electron microscopy, the numbers, sizes and types distribution of diatoms in drowned and postmortem immersed rabbits' lungs can be analyzed and used as references for testing theory.
Animals ; Autopsy ; Diatoms/isolation & purification* ; Drowning ; Lung/microbiology* ; Microscopy, Electron, Scanning ; Microwaves ; Rabbits

OBJECTIVETo explore the clinical features and the combined treatment modality of Hurthle cell thyroid tumor (HCT).

METHODSTwenty-eight cases of HCT treated between 2001 and 2009 were analyzed retrospectively.

RESULTSThe age of the patients ranged from 18 to 72 years (with a median of 46.5 years); 22 females and 6 males. The main symptoms were thyroid solitary node or mass (22 cases) and multiple nodule (6 cases), 2 cases with cervical lymph node metastasis. All of the patients underwent surgery, 11 cases with thyroid lobectomy, 11 cases with thyroid lobectomy plus isthmusectomy, 4 cases with subtotal thyroidectomy, and 2 cases with thyroid lobectomy plus isthmusectomy and combined with modified radical cervical lymph node dissection. Postoperative pathological examination showed that 22 cases were Hurthle cell adenomas and 6 cases were Hurthle cell carcinomas, 1 of them with cervical lymph node metastasis. Twenty-one patients with Hurthle cell adenomas were followed up for 6 months to 7.5 years (with a median of 45 months) and 6 patients with Hurthle cell carcinomas for 3 to 8 years (with a median of 54 months), with no recurrence and death case.

CONCLUSIONSHCT is a potential malignant neoplasm. There are some difficulties in the diagnosis of HCT by frozen section. Surgery is an effective treatment for HCT. L-Thyroxine can be used to inhibit TSH excretion.

Adenoma, Oxyphilic ; diagnosis ; surgery ; Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Thyroid Neoplasms ; diagnosis ; surgery ; Young Adult

OBJECTIVETo observe the effect of Migu capsule and Strengthening Spleen prescriptions on the expression of vitamin D receptor on small intestine and calf muscle of the rat, while observing whether the Chinese medicine complex prescriptions of different effect such as invigorating the kidney and strengthening the spleen had selectivity to expression of the VDR mRNA.

METHODSCopy the model of osteoporosis by ovariectomy operation, the rats were randomly divided into four groups, pseudo-resection group, model group, Migu capsule group and strengthening Spleen prescriptions group. Drug delivery 12 weeks later from operation, stomach lavage last for 12 weeks. Then, to observe the effect of medicine on the rats' bone mineral density, uterus weight, calf muscle/weight, and the VDR mRNA in small intestine and calf muscle through RT-PCR.

RESULTSMigu capsule enhanced bone mineral density (P<0.05), raised calf muscle/weight (P<0.05), up-regulated expression of calf muscle VDR mRNA in the small intestine (P<0.01). Strengthening Spleen prescriptions remained bone mineral density (P>0.05), up-regulated expression of calf muscle VDR mRNA (P<0.01), there was no obvious difference in uterus weight in Migu capsule group and Strengthening Spleen prescription group.

CONCLUSIONMigu capsule and Strengthening Spleen prescriptions can cure osteoporosis by improving the expression of calf muscle VDR mRNA in the small intestine.

Animals ; Bone Density ; Capsules ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Female ; Gene Expression Regulation ; drug effects ; Intestine, Small ; drug effects ; metabolism ; Muscle, Skeletal ; drug effects ; metabolism ; Osteoporosis ; metabolism ; prevention & control ; Ovariectomy ; Prescriptions ; RNA, Messenger ; metabolism ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Receptors, Calcitriol ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Spleen ; drug effects ; metabolism

A full-length cDNA encoding a MYB-related regulatory gene was isolated from a cDNA library prepared from mRNAs of the red line callus of S. medusa by TD-PCR. The cDNA, designated SmP, is 969 nucleotides long and has an open reading frame of 771 bp with a deduced amino acid sequence of 256 residues. The putative protein of SmP has two typical conversed R2R3-Myb DNA-binding domains in N-terminal and displays a rather high degree of similarity to OsMYB from rice and LBMI from tobacco, showing 73% and 70% identity within the DNA-binding domains. However, the C-terminal domain of the SmP protein does not show obvious similarity to any other known protein sequence. It is rich in hydrophilic amino acids, especially in serine residues (18.38%), partly organized in homopolymeric stretches, a feature often found in activation domain of transcription factors.
Amino Acid Sequence ; Cloning, Molecular ; Molecular Sequence Data ; Phylogeny ; Plant Proteins ; chemistry ; classification ; genetics ; metabolism ; Polymerase Chain Reaction ; Saussurea ; classification ; genetics ; metabolism ; Sequence Homology, Amino Acid ; Transcription Factors ; chemistry ; genetics ; metabolism

OBJECTIVETo investigate whether α-hemoglobin stabilizing protein (AHSP), the α-globin-specific molecular chaperone, is regulated by erythroid transcription factor NF-E2.

METHODSWe established the stable cell line with NF-E2p45 (the larger subunit of NF-E2) short hairpin RNA to silence its expression. Western blot, real-time polymerase chain reaction, and chromatin immunoprecipitation (ChIP) analysis were performed to detect the expression of AHSP, the histone modifications at AHSP gene locus, and the binding of GATA-1 at the AHSP promoter with NF-E2p45 deficiency. ChIP was also carried out in dimethyl sulfoxide (DMSO)-induced DS19 cells and estrogen-induced G1E-ER4 cells to examine NF-E2 binding to the AHSP gene locus and its changes during cell erythroid differentiation. Finally, luciferase assay was applied in HeLa cells transfected with AHSP promoter fragments to examine AHSP promoter activity in the presence of exogenous NF-E2p45.

RESULTSWe found that AHSP expression was highly dependent on NF-E2p45. NF-E2 bound to the regions across AHSP gene locus in vivo, and the transcription of AHSP was transactivated by exogenous NF-E2p45. In addition, we observed the decrease of H3K4 trimethylation and GATA-1 occupancy at the AHSP gene locus in NF-E2p45-deficient cells. Restoration of GATA-1 in G1E-ER4 cells in turn led to increased DNA binding of NF-E2p45.

CONCLUSIONNF-E2 may play an important role in AHSP gene regulation, providing new insights into the molecular mechanisms underlying the erythroid-specific expression of AHSP as well as new possibilities for β-thalassemia treatment.

Base Sequence ; Blood Proteins ; genetics ; DNA Primers ; GATA1 Transcription Factor ; physiology ; Gene Expression Regulation ; physiology ; Gene Silencing ; HeLa Cells ; Humans ; Methylation ; Molecular Chaperones ; genetics ; NF-E2 Transcription Factor, p45 Subunit ; physiology ; Promoter Regions, Genetic ; Reverse Transcriptase Polymerase Chain Reaction

China ; Cognition ; Digestive System Surgical Procedures ; Enhanced Recovery After Surgery ; Humans ; Length of Stay

Objective To evaluate the clinical effect of embolization of cerebral dural atreriovenous fistulas (cDAVF) of the eavemous sinus through the superior ophthalmic vein approach. Methods Twnety-seven patients with eDAVF of the cavernous sinus were embolized through the superior ophthalmic vein approach. Cerebral angiography and follow-up examination of the patients were performed to evaluate the effect ofernbolization. Results The fistulae showed complete angiographic disappearance in 15 patients, and 12 patients had blood velocity flow reduction at the fistula orifice. Ocular proptosis and chemosis deteriorated transiently in 11 patients after the procedure. The patients were followed-op for 3 to 48 months, and clinical cure was achieved in 17 patients, and 10 showed significant symptom relief. Conclusion cDAVF of the cavernous sinus can be effectively embolized through the superior ophthalmic vein approach.

OBJECTIVETo evaluate the characteristics of myocardial (18)F-FDG imaging in pilots with regular aerobic exercise training.

METHODSTwenty seven healthy male pilots with regular aerobic exercise training were included in this study. The subjects were divided into fasting (n = 17) or non-fasting group (n = 10). Fluorine-18-labeled deoxyglucose and Tc-99m-sestamibi dual-nuclide myocardial imaging were obtained at rest and at target heart rate during bicycle ergometer test. The exercise and rest myocardial perfusion imaging were analyzed for myocardial ischemia presence. The myocardial metabolism imaging was analyzed with the visual semi-quantitative analyses model of seventeen segments.

RESULTSThe secondary-extreme heart rate (195-age) was achieved in all subjects. There was no myocardial ischemia in all perfusion imaging. In the visual qualitative analyses, four myocardial metabolism imaging failed in the fasting group while one failed in the non-fasting group (P > 0.05). In the visual semi-quantitative analyses, myocardial metabolism imaging scores at rest or exercise in all segments were similar between two groups (P > 0.05). In the fasting group, the myocardial metabolism imaging scores during exercise were significantly higher than those at rest in 6 segments (P < 0.05). In the non-fasting group, the scores of 3 exercise myocardial metabolism imaging were significantly higher than those at rest (P < 0.05).

CONCLUSIONSatisfactory high-quality myocardial metabolism imaging could be obtained at fasting and exercise situations in subjects with regular aerobic exercise.

Adult ; Blood Glucose ; metabolism ; Exercise ; Exercise Test ; Fluorodeoxyglucose F18 ; Humans ; Male ; Middle Aged ; Myocardium ; metabolism ; Technetium Tc 99m Sestamibi ; Young Adult

OBJECTIVEThe aim of this study was to evaluate the correlation of protein expressions of CXC chemokine receptor 4 (CXCR4), vascular endothelial growth factor-C (VEGF-C) and cytokeratin 19 (CK-19) with lymph node metastasis (LNM) in patients with hepatocellular carcinoma (HCC), and their survival.

METHODSThe expressions of CXCR4, VEGF-C and CK-19 in HCC patients with (n = 123) or without (n = 145) LNM were determined using tissue microarray and immunohistochemical staining. The relationship between clinicopathological features and CXCR4, VEGF-C and CK-19 were analyzed. Evaluation of immunostaining was performed semiquantitatively by visual assessment.

RESULTSThe UICC T stage, and expressions of nuclear CXCR4, VEGF-C and CK-19 were independent risk factors for LNM. Nuclear CXCR4, VEGF-C and CK-19 expression were predictive factors for LNM in HCC patients. In patients with LNM, the median survival time was 15.1 months for patients with high nuclear CXCR4 expression and 24.5 months for those with low nuclear CXCR4 expression. The median survival time was 15.1 months for patients with high tumor VEGF-C expression and 31.1 months for those with low tumor VEGF-C expression. The median survival time was 12.0 months for patients with positive CK-19 expression and 19.2 months for patients with negative CK-19 expression. Patients with high nuclear CXCR4, VEGF-C or CK-19 expression had significantly poorer prognosis than those with low expression (all P < 0.05). PVT, UICC T stage and expressions of nuclear CXCR4, VEGF-C, and CK-19 were independent prognostic factors.

CONCLUSIONIncreased protein expressions of nuclear CXCR4, VEGF-C, and CK-19 are independent risk factors for developing lymph node metastasis, and they are significantly correlated with LNM and poor outcome in HCC patients.

Carcinoma, Hepatocellular ; metabolism ; pathology ; Cell Nucleus ; metabolism ; Female ; Follow-Up Studies ; Humans ; Keratin-19 ; metabolism ; Liver Neoplasms ; metabolism ; pathology ; Lymphatic Metastasis ; pathology ; Male ; Middle Aged ; Neoplasm Staging ; Proportional Hazards Models ; Receptors, CXCR4 ; metabolism ; Risk Factors ; Survival Rate ; Vascular Endothelial Growth Factor C ; metabolism