Abstract:Objective To investigate the BRCA1 gene in hereditary breast and ovarian cancer, early onset breast cancer and sporadic ovarian cancer Methods The exons of 2, 11 and 20 of BRCA1 gene were analyzed Polymerase chain reaction single strand conformation analysis(PCR SSCP) and PCR SSCP combined by restriction enzymes were used to screen for mutations Mutations were further indentifed by sequencing. The loss of heterozygosity (LOH)were also investigated at the BRCA1 genetic loci D17S855 in 10 hereditary ovarian cancer Results A insertion mutation was detected in H7.“C” was inserted at nucleotide 797. It would result in truncation of the BRCA1 protein at codon 277. A missen mutation was detected in an early onset breast cancer(diagnosed at age 24). At nucleotide position 3732, the substitution of a “G” to a “C” in codon 1205 changes a Gly to a Arg. A missen mutation were also detected in three sporadic ovarian cancers. At nucleotide position 2051, the substitution of a “T” to a “G” in codon 644 changes a Cys to a Trp. H3 and H7 patients show LOH. Conclusions. BRCA1 gene has an important effect in Chinese hereditary breast and ovarian cancer, its effect on early onset breast cancer and sporadic ovarian cancer are still to be studied. BRCA1 gene is a tumor suppressor gene.
Abstract:Aberrations of chromosome 9 p21 22 are involved in the genesis of many forms of cancer.The gene p16 and p15 have been assigned to this region.Both p16 and p15 are an inhibitor of cyclin D cdk4,cyclin D cdk6 complex and have been implicated in a wide variety of cancer types,including the germline of patients with familial melanoma.In order to investigate and compare the status of p16,p15 gene in primary tumors and cell lines,we examined 357 primary tumors and 29 cell lines derived from diverse tumor types.In addition to analysis of these primary tumors and cell lines,blood specimens from 91 patients either with sporadic multiple cancers or from cancer prone families were also analyzed.The data showed the following:1)Homozygous deletions of p16,p15 were comparatively rare and far less common than previously reported,although hemizygous deletions were observed in a significant fraction of many tumor types;2)the incidence of p16,p15 deletions(either homozygous deletions or heterozygous deletions)varied significantly among different tumor types;3)most deletions involved in both p16 and p15 genes;4)sequence variations in the coding sequence of p16,p15 were comparatively rare among these tumor types,though mutations and polymorphisms were identified;5)some tumors which showed LOH at 9p,containing p16 and p15 gene,did not show deletions or point mutations in the p16,p15 gene.6)In a subset of retinoblastoma and osteosarcoma where no Rb gene mutations were present a significant fraction was found to contain p16,p15 gene deletions.
Abstract:To determine the frequency of p16 gene inactivation in leukemia cells, and to evaluate their value in the prediction of their clinical outcome. Bone marrow or peripheral blood samples from 48 patients with leukemia were examined by multiplex polymerase chain reaction(MPCR) to detect p16 gene homozygous deletion, and restriction enzyme PCR to detect p16 gene methylation. p16 gene inactivation were detected in 10 of the 48 patients(20.4%). They were five patients with p16 homozygous deletion, and five patients with p16 methylation, respectively. p16 gene inactivation correlates with adverse prognosis features. The patients with p16 inactivation had poor response to chemotherapy, and had significantly shorter survival times than the patients in whom p16 gene was preserved(P<0.001). The inactivation of p16 gene play a key role in the pathogenesis and the progression of some leukemia. The detection of p16 gene is reliable prognostic factor that predict shortened survival times.
Abstract:Aim. Comparison of the trascranial Doppler (TCD) characteristics of cerebral circulation in persistent vegetative status (PVS), locked in syndrome and brain death patients. Methods. Using TCD ultrasound to detect the flow velocity and waveform patterns of middle cerebral artery (MCA) and basilar artery (BA) in patients with PVS, locked in syndrome and brain death. Results. The mean velocities of middle cerebral artery (Vmca) and basilar artery (Vba) were 30.0cm/s and 24.3cm/s in PVS patients respectively, which decreased 45.0% and 14.4% in comparing with normal value. For patients with locked in syndrome, Vmca and Vba were 49.7cm/s and 9.8cm/s, which decreased 5.0% and 61.7% than the normal value respectively. These results showed that the decrease of anterior circulation was predominant in PVS, and the decrease of posterior circulation was predominant in locked in syndrome. A unique diastolic reverse flow, short peak systolic wave or undetectable flow signal in middle cerebral artery were predominant in brain death patients, which was completely different from that of either PVS or locked in syndrome. Conclusion. TCD was a valuable tool in distinguishing PVS, locked in syndrome and brain death patients according to the differences in velocities and patterns of anterior and posterior cerebral arteries.
Fang Qiang Zhou , Xin Jin Zhou 2, Alex W. Yu 3, Ruo Hua Song 1 Renal and Hypertension Section, Hines Loyola Medical Center, Chicago, IL., USA
Issue 4, (1999)
Abstract:Aim. To elucidate whether an inhibited superoxide production(O 2 ) of neutrophils induced by commercial lactate based peritoneal dialysates(PDS) could be corrected after a transient intracellular acidosis. Methods. The intracellular pH([pHi]) of human neutrophils incubatd in PDS was monitored with a spectrofluorometer with a pH sensitive dye (BCECF AM). Neutrophilic O 2 stimulated by zymosan was determined in PDS with the superoxide dismutase inhibitable ferricytochrome c reduction, using a spectrophotometer. Results. The severe intracellular acidosis induced within 5 min by PDS at an extracellular pH of 5.2 could be promptly and completely recovered by a neutralization of the pH of media. However, O 2 by neutrophils exposed to the PDS for as little as 5 min was drastically and persistently inhibited, even the acidic [pHi] of cells had been fully returned for 1h. Conclusions. The intracellular acidification of cells in the initial phase could be transient and reversible, but impaired cell functions, at least in part including O 2 generating system, might be consistent and irreversible in the early stage of the cellular acidosis in the peritoneal cavity of CAPD patients. The findings above may be of particular importance in both clinic and cell biology.
Abstract:Objective and method. To research the alteration of pulmonary flow spectrum of patients with congenital heart disease and the relation between pulmonary flow spectrum and pulmonary artery pressure, 33 patients with congenital heart disease were examined by echocardiography and catheterization. Results. The result showed that the spectrum peak early occurring in patients with pulmonary hypertension and the degree of the spectrum peak early occurring was related to pulmonary artery pressure positively. The result suggested that when the pulmonary artery systolic pressure was over 100 mmHg, the flow spectrum showed slender pattern usually. Conclusion. The slender pattern in pulmonary flow spectrum could be a semi quantity parameter to predict that the pulmonary artery systolic pressure more than 100 mmHg.
Abstract:Objective. To determine whether malariotherapy (an old therapy for treatment of neurosyphilis) improves some clinical and laboratory parameters of HIV positive patients without iatrogenic complications. Methods. Total 8 asymptomatic HIV 1 positive subjects whose CD4 cell counts were over 250×10 6 cells/L were selected for the phase 1 studies of malariotherapy and were intravenously injected Plasmodia vivax to induce artificial malaria. Malaria was terminated with chloroquine after 10~20 malarial fever episodes. Cell bound CD4 levels were measured by APAAP (a solid phase enzyme essay) and levels of neopterin (NPT), beta 2 microglobulin (B2M), soluble tumor necrosis factor receptor 2(sTNF RII), interleukin 2(IL 2) and HIV P24 antigen were measured by ELISA. Patients were followed up to 24~30 months. Results.CD4 levels increased in 5, NPT decreased in 7 of 8 patients; IL 2 increased in 5 of 6 patients after malariotherapy. The total trends of B2M and sTNF RII basically remained stable. HIV P24 antigen remained undetectable in 6, remained detectably low level in 1 and experienced increase in 1 of 8 patients after malariotherapy. No any severe complications occurred in all 8 patients. Conclusions. The results indicate that malariotherapy basically is safe for HIV infection and it seems that the therapy improves some immunological parameters of HIV patients.
Abstract:Objective. To evaluate the diagnosis and treatment for malignant gestational trophoblastic tumor(MGTT) with pulmonary metastasis complicated with pulmonary tuberculosis. Methods. To analyze ten cases of MGTT with pulmonary metastasis complicated with pulmonary tuberculosis in our hospital from 1980 to 1997 retrospectively. Results.From the x ray film, there are great resemblances between MGTT with pulmonary metastasis and pulmonary tuberculosis. Of 10 patients, 7 of them were examined out pulmonary tuberculosis during the chemotherapy of MGTT. Pulmonary tuberculosis appeared six months before chemotherapy in three cases. All of the patients were treated with multiagent chemotherapy. Seven patients achiceved a complete remission, 2 patients developed drug resistance and died of cerebral haemorrhage and cerebral herniation, 1 woman who had achieved a complete remission from MGTT for 14 months died of miliary tuberculosis. Conclusion. It is very important to make differential diagnosis of the MGTT with pulmonary metastasis complicated with pulmonary tuberculosis. Trying to avoid excessive anti tumor treatment owing to mistake pulmonary tuberculosis for pulmonary metastasis, and avoiding missing an opportunity of anti tuberculosis treatment because of missed diagnosis should be emphasized.
Abstract:Objective. To study the changes of microcirculation in patients with diabetic retinopathy(DR). Methods. Examination were performed in 153 cases of type Ⅱ diabetes mellitus, among them, 72 cases were male, 81 cases were female, mean age 57.0±10.0 years, mean disease course 8.2±7.5 years. All cases were examined fundi by ophthalmologist, urinary albumin excretion rate (UAE) in 24 hours was measured by radioimmunoassay. Moreover, we examined the blood glucose, blood pressure, blood viscosity and observed the changes of naifold microcirculation. Results.It was found that there were more evident disturbance of microcirculation, markedly slowed velocity of blood flow(P<0.05), significantly increased aggregation of blood cells(P<0.05) and exudation around the loop(P<0.05) in the group with DR, compared with the group without DR. Conclusion. It was more evident disturbance of nailfold microcirculation in patients with diabetic retinopathy.
Abstract:Objective. So far, it has not been established a satisfactory method for early diagnosis and studying on epidemiology for leprosy, we want to develop a molecular biological method for solving this point. Materials and methods. Based on the M. leprae gene coding groEL, 65kD and 16S rRNA, three polymerase chain reactions were developed by using plikaytis’, Woods’ and Pattyn’s procedures. It was optimized that the experimental parameters for each PCR, and a comparative study on practivity among three PCRs was also conducted for practical purpose.Results and conclusion. For detecting infection with M. leprae, all of PCRs established by us were highly sensitive and specific, but for practicl purpose, the woods’ PCR optimized by us ought to be chosen firstly.
Abstract:Objective. Spleen transplanlation has developed to be an effective strategy for hemophilia A. But it has not been reported up to date that which kind of established solutions is most suitable for perfusion and preservation of spleen. This study aimed to establish some experiences with the comparison among Hartmann’s solution, Collins’ solution and WMO I solution, in order to instruct the clinical spleen transplantation. Methods. After the splenic artery and vein were dissociated clearly, three kinds of perfusion solutions began to perfuse the corresponding segments of spleen with a randomized sequence. When the efferent fluids from the splenic vein became clear, the perfused spleen segments were preserved for different durations with the same perfusing solution to calculate the survival rate of splencocyte(SRS) and were examined with light and electron microscopy. Results. Among the three solutions, SRS with WMO I solution was significantly higher than those of the other two(P< 0.001). The perfused spleen with WMO I solution showed the slightest morphological changes and a significant longer preservation duration than those with the other two(P<0.05 or P< 0 01). Conclusion. Among the three solutions, WMO I solution was most suitable for perfusion and preservation of spleen.
Abstract:Objectives. The aim of this paper is to describe the clinical characteristics, diagnostic procedure and operative management of Mirrizi syndrome. Methods. Sixteen cases of Mirrizi syndrome were selected and reviewed from 1987 to 1997. Results. In the 16 cases, 6 cases were male, 10 cases were female, the average age was 62.7 years old. Ten cases were diagnosed to be Mirrizi syndrome preoperatively(62.5%); 3 cases were considered to bile duct tumor, the other 3 cases were emergency, they were confirmed the diagnosis after the operation. Conclusions. Ultrasound is recommended as the first choice of screening method, while ERCP may confirm the diagnosis. Surgical approach is considered to be the choice and technical procedures are suggested to prevent intraoperative injury and to repair defects of the common bile duct.
Abstract:Objective. The present study aimed to elucidating the correlation of apolipoprotein(a)[apo(a)] with cerebral infarction at the levels of molecule and protein. Methods. The serum Lp(a) level, by means of ELISA, the polymorphism of apo(a) protein, by SDS PAGE/Western blotting combined with silver staining assays, and the sequence polymorphisms in 5’ control region, the first exon and intron of apo(a)gene, by PCR SSCP/AFLP assays, were detected in 85 healthy controls and 42 cases of cortical cerebral infarction. Results. The serum Lp(a) level was markedly higher in the patients(152.59±3.41 mg/L)than that in the controls(56.21±3.67 mg/L)(t=4.15, P<0.001), even between the subjects with the same apo(a) phenotype. The frequency of low molecular weight phenotype was significantly higher in the patients than that in the controls(0.5238 vs. 0.2941). There were 2 sites of sequence variance in the 5’ control region of apo(a) gene in our studied population, which were of significant difference between patients and controls, and were related to the variation of serum Lp(a) level. Conclusion. Our study found that the low molecular weight phenotype of apo(a) was closely associated with cerebral infarction, suggested that the variation of serum Lp(a) level be determined by not only the size of apo(a) gene but also its sequence, which indicated that both the size and sequence of apo(a) are associated with the susceptibility to cerebral infarction.
Abstract:The aim of this study was to observe the morphological changes of muscle in the process of rigor mortis. The quadriceps of 40 rats at various postmortem intervals were observed under the scanning electron microscope(SEM) and the light microscope by phosphotungstic acid haematoxylin(PTAH) stain. The results showed that the striations of muscle were blurred within 4 h, but they became apparent from 6 h to 24 h after death. The authors suggest that this phenomenon be associated with the increased resistance of muscle against the postmortal changes. The observations by scanning electron microscopy and light microscopy have revealed that the muscles do contract in the process of rigor mortis because the distance between two Z lines shortens and the I band narrows, compared with those in anaesthetised animals. The basic biochemical process for the formation of rigor mortis is the same as that of muscle contraction except that the former happens postmortem and the latter antemortem.