Background Leber hereditary optic neuropathy (LHON)is a mitochondrial DNA (mtDNA)hereditary disease,so it is significant to understand the influence of DNA mutation on the occurrence of LHON.Objective This survey was to evaluate the role of mtDNA mutation in the development of LHON.Methods This survey study was approved by the Ethic Committee of Wuhan General Hospital of Guangzhou Military Command and written informed consent was obtained from each subject before the relative medial examination.Seventy-two matrilineal relatives from a family with LHON were collected for a pedigree analysis and mutation screening.Regular eye examination was performed on 11 patients,13 mutant gene carriers and 49 individuals with normal phenotype,and the degree of visual damage was graded as follows: ＞0.3 was normal,0.1-0.3 was mild damage,＜0.05-0.1 was moderate damage,＜0.02-0.05 was severe damage and ＜0.01 was very severe damage.Clinical characteristics of LHON was evaluated.The periphery blood sample of 2-4 ml was collected from individuals to separate the mononuclear cells,and the mtDNA was extracted by modified high salt method.MtDNA was amplified by PCR and the mutation loci was sequenced.Results PCR amplification product sequencing of mutant gene showed that both G11778A and T14502C mutations were detected in 24 of 72 matrilineal relatives,but only 11 of 24 carriers developed LHON.No abnormal clinical findings were seen in the 13 carriers,showing a less 50％ penetrance in this family.There was no G11778A or/and T14502C mutation in the normal phenotype individuals of this family.The onset age for vision impairment in 11 affected matrilineal relatives varied from 8 to 50 years old,with the mean age of 24.36 years old,showing a significantly lower age than that of the 13 carriers (5-72 years old,mean 40.38 years old) (t =2.102,P=0.049).Conclusions This study suggests that the Gl1778A and T14502C mutation in mitochondrial DNA is one of causes in the development of LHON.The primary G11778A mutation together with T14502C mutation in mtDNA is a factor for the occurrence of LHON,hut it is not sufficient to the development of LHON.An effective “second hit” process will play an inducing role for LHON.

Antibodies, Antinuclear ; blood ; Autoantibodies ; blood ; Autoimmunity ; Biomarkers ; blood ; Hepatitis C ; blood ; immunology ; Humans ; Mitochondria ; immunology ; Muscle, Smooth ; immunology ; Retrospective Studies

The impact of key physical properties on granulated products by the high-speed mixing wet method was studied. Andrographis extracts were utilized as the model drug. Four processing methods were adopted to prepare mixed powder of microcrystalline cellulose (MCC) and starch with the mass ratio 1:0.5, 1:1 and 1:2 by the high-speed mixing wet method. The properties of the prepared granules were evaluated with such indexes as granule yield, the ratio of lumps and fine powder, granule-AOR and granule-HR. The impact of key physical properties on granulated products was analyzed through stepwise regression analysis. The results showed that angle of repose, moisture content, pore volume, density and contact angle with water were key physical properties of the powder. The key physical properties of Chinese medical extracts powder are the important factor impacting granulated products made by the high-speed mixing wet method. In this study, the impact of key physical properties on granulated products of Chinese medical extracts was analyzed from the physical angle.
Andrographis ; chemistry ; Drug Compounding ; instrumentation ; methods ; Drugs, Chinese Herbal ; chemistry ; Particle Size ; Powders ; chemistry

Objective To explore the epidemics of influenza viruses in Guangzhou area from 1998 to 2003. Methods The specimens for viral isolation were taken with swabs from children's throats and the material was inoculated into the MDCK cells and were incubated at 33 ℃ The supernatant of MDCK cells culture was tested with hemagglutination test. Results Influenza viruses were isolated from 264 of 3444 children; total positive rate of influenza virus isolation was 7.6%. The positive rate of influenza viruses was 16.8% in 1998; the prevailing strain of influenza viruses was H3N2. The influenza viruses isolation rate was 7.4% in 1999;the positive rate was 8.4% ; HIN1 occurred in 2000, the positive rate was 3.8%. H3N2 did not occur in 2001; the positive rate was 7.3% ; influenza B viruses was the prevailing strain in 2002; the positive rate was 1.7% in 2003. Influenza B viruses was Yamagata like strain from 1998 to 2001, Victoria like strain from 2002 to 2003. H9N2 avian influenza virus was isolated from a child. Conclusions Influenza was prevalent in Guangzhou in 1998, but not prevalent from 1999 to 2003. Most of influenza B viruses were Yamagata strain. There were cases avian influenza caused by H9N2 in 1999.

OBJECTIVETo establish immortalized cell line from the urothelium of the urinary bladder and identify the characteristics of the cell line.

METHODSHuman papillomavirus 16 (HPV-16) plasmid was used to transfect urothelium of infant urinary bladder in vitro with the help of Fugene-6, and this plasmid contained E6 and E7 genes of HPV-16. We also identified the existence of HPV-16 E6 and E7 genes and the biological characteristics of the cell line by PCR, immunohistochemistry, and the biology identification.

RESULTSBLTR-4 cell line, produced from the transfection of HPV-16K plasmid, was a cell line from urothelium with the expression of HPV-16 E6 and E7 genes. It had been cultured more than 70 passages, and the characteristics of growth was similar to the immortalized cell line as reported.

CONCLUSIONSBLTR-4 cell line is an immortalized cell line from urothelium of the urinary bladder, which contains HPV-16 E6 and E7 genes. BLTR-4 cell line is a good experimental model to investigate the relationship of the infection of high risk HPV and transitional cell carcinoma (TCC) in vitro.

Cell Line, Transformed ; Humans ; Oncogene Proteins, Viral ; genetics ; Papillomaviridae ; genetics ; Papillomavirus E7 Proteins ; Papillomavirus Infections ; virology ; Plasmids ; genetics ; Repressor Proteins ; genetics ; Transcription, Genetic ; Transfection ; Tumor Virus Infections ; virology ; Urinary Bladder ; cytology ; Urinary Bladder Neoplasms ; virology

Computer Graphics ; Computer-Assisted Instruction ; Forensic Pathology ; Humans ; Imaging, Three-Dimensional ; Pathology ; education ; Pathology, Clinical ; Specimen Handling ; methods

OBJECTIVETo investigate the anti-motion sickness efficacy and influence on the blood level of some hormones of a Chinese prescription composed of 10 herbs such as spina date seed.

METHODSAccording to the report by Cramptom and Lucot, SD rats and Beagle dogs were rotated around a horizontal axis, and the rat behavior of pica for Kaolin and the latency to vomit in dog were observed. In addition, guinea pigs were rotated around a vertical axis, and the nystagmus was recorded. Blood levels of corticosterone, adrenocorticotrophic hormone (ACTH), corticotropin releasing hormone (CRH) and arginine vasopressin (AVP) in rats were measured with radioimmunoassay. The influences of the extracted mixture of herbs on these variables were simultaneously investigated.

RESULTSCompared with control group, oral administration of the extracted mixture of herbs: (1) significantly inhibited the rat behavior of pica for Kaolin and prolonged the latency to vomit in dog dose-dependently; (2) decreased the frequency of nystagmus and mean slow phase speed in rat; (3) reduced the elevation of corticosterone, ACTH, CRH and AVP in rat blood induced by rotatory stimulation; and (4) these effects of the extracted mixture of herbs were almost identical to dimenhydrinate.

CONCLUSION(1) The extracted mixture of Chinese Medicinal Herbs we used could inhibit motion sickness effectively. (2) This drug could reduce the blood levels of hormones of hypothalamic-pituitary-adrenocortical axis and AVP elevated by provocative rotatory stimulation.

Adrenocorticotropic Hormone ; blood ; Animals ; Arginine Vasopressin ; blood ; Corticosterone ; blood ; Corticotropin-Releasing Hormone ; blood ; Dogs ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Guinea Pigs ; Male ; Motion Sickness ; blood ; drug therapy ; Phytotherapy ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo explore whether there are gene mutations of Tolloid-like 1 (TLL-1) gene in Chinese patients with sporadic congenital heart disease (CHD).

METHODSOne hundred and fifteen patients with sporadic CHD were selected as CHD group. One hundred and two age and gender-matched healthy people were recruited as control group. After amplifying the exon 10 of the TLL-1 gene by polymerase chain reaction, the polymerase chain reaction products were purified, sequenced and analyzed in order to investigate the TLL-1 gene mutation.

RESULTSAn insertion mutation of base A in the exon 10 of TLL-1 gene was identified in 7 out of 115 CHD patients, including 3 patients with atrial septal defect, 2 patients with ventricular septal defect, 1 patients with patent ductus arteriosus and 1 patients with complex CHD, the total mutation rate was 6.1% in CHD group and 0 in control group (P < 0.01).

CONCLUSIONSTLL-1 gene mutation with an insertion mutation of base A in exon 10 is often in Chinese patients with various CHD. The underlying pathogenesis between TLL-1 gene mutation and occurrence of congenital heart disease in Chinese people remains unclear and warrants further investigations.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Child ; Child, Preschool ; Exons ; Female ; Heart Defects, Congenital ; genetics ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Pedigree ; Tolloid-Like Metalloproteinases ; genetics ; Young Adult

OBJECTIVETo investigate the efficacy and safety of sirolimus in management of chronic allograft nephropathy (CAN).

METHODSA retrospective study was conducted involving 31 CAN patients followed up since March 2002, who experienced a change from a calcineurin inhibitor (CNI)-based regimen to a SRL-based regimen. Serum creatinine (Cr) in these patients was compared before and after the regimen change, and the adverse events associated with SRL were analyzed.

RESULTSTill March 2007 when the study closed, 15 patients reached the primary endpoint for resuming dialysis, 8 had improved and 8 had stable renal function. In patients with high Cr(0)(> or =3 mg/L, n=12), 9 resumed dialysis and 2 had improved renal function, but one of the patients with renal improvement eventually died due to infection; in the patients with low Cr(0)(<3 mg/L, n=19), 5 resumed dialysis, 8 had stable renal function and 6 had improved renal function, showing significant difference between the 2 groups (P=0.003). Altogether 14 patients reached the secondary endpoint for ceasing SRL for severe infection (5 patients, of whom 4 resumed dialysis and 1 died of infection) or adverse events associated with SRL (9 patients, of whom 4 resumed dialysis, 2 had stable and 3 had improved renal function). Hyperlipidemia (51.6%), leukocytopenia (41.9%), mouth ulcer (29.0%) and liver function lesion (16.1%) were the commonest adverse events in these patients, and totalling 13 severe adverse events were recorded, including 2 fatal cerebral hemorrhage, 3 fatal infection episodes, and 8 pulmonary and urinary infections that require hospitalization.

CONCLUSIONConversion from a CNI-based to SRL-based regimen can be effective for some CAN cases, especially for those with Cr(0) below 3 mg/L. Attention must be given to adverse events like hyperlipidemia and leukocytopenia, as well as the related cerebral vascular accidents and infections.

Adult ; Aged ; Chronic Disease ; Creatinine ; blood ; Female ; Humans ; Immunosuppressive Agents ; adverse effects ; therapeutic use ; Kidney Function Tests ; Kidney Transplantation ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Sirolimus ; adverse effects ; therapeutic use ; Transplantation, Homologous ; Treatment Outcome ; Young Adult

OBJECTIVETo evaluate the prognostic significance of micropapillary pattern (MPP) in adenocarcinoma of lung.

METHODSNinety-one consecutively excised cases of pulmonary adenocarcinoma, including follow-up data, were retrospectively studied. These tumors were divided into 2 major groups: those with MPP and those without MPP. The former was further subdivided according to extent of the micropapillary component, as follows: MPP + (constituting 1% to 10% of the tumor), MPP ++ (constituting 11% to 30% of the tumor) and MPP +++ (constituting more than 30% of the tumor).

RESULTSThe overall 5-year survival rate was 64.8%. The 5-year survival rates were 88.9% for stage I tumors, 46.2% for stage II tumors, and 23.8% for stage III tumor respectively (P = 0.000). The extent of micropapillary component showed no correlation with tumor stage, size and 5-year survival rate (P = 0.065, 0.358 and 0.206, respectively). On the other hand, the 5-year survival rate was 41.5% for patients in the MPP-positive group (number = 41) and 84.0% for patients in the MPP-negative group (number = 50). The percentage of nodal metastasis in MPP-positive group was also higher than that in MPP-negative group (P = 0.000). In pulmonary adenocarcinoma, this characteristic histology correlated with tumor stage and size, but not with patient's gender and smoking history. Within the same stage, the 5-year survival rates of MPP-positive and MPP-negative groups were as follows: for stage I, 78.6% versus 92.6% (P = 0.1548), for stage II, 30.0% versus 100% (P = 0.0598), and for stage III, 17.7% versus 28.6% (P = 0.4045).

CONCLUSIONSMPP in primary pulmonary adenocarcinoma, even when only constituting a minor component, predicts an aggressive clinical behavior and is associated with poor prognosis. Although it may not be an independent prognostic factor, presence of this histologic pattern should alert clinicians for more active treatment and closer follow up.

Adenocarcinoma ; pathology ; surgery ; Adenocarcinoma, Bronchiolo-Alveolar ; pathology ; surgery ; Adenocarcinoma, Papillary ; pathology ; surgery ; Adult ; Aged ; Female ; Follow-Up Studies ; Humans ; Lung ; pathology ; surgery ; Lung Neoplasms ; pathology ; surgery ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Staging ; Prognosis ; Retrospective Studies ; Survival Analysis