1997年 · 第110卷第02期

OBJECTIVE To detect gene defects of factor VIII (F VIII) in Chinese hemophilia A patients. METHODS 3' end of exon 14 of F VIII gene from a mild hemophilia A patient of Chinese origin was amplified by polymerase chain reaction (PCR) and identified mutations by denaturing gradient gel electrophoresis (DGGE) combining with direct sequencing. RESULTS An upward shift band was detected by DGGE in W381. Direct sequencing demonstrated a C to T transition resulting in substitution of Arg1689Cys within a thrombin activation site of mature F VIII protein, which created a unique a thrombin activation site of mature F VIII protein, which created a unique PstI site in amplified fragment of F VIII. CONCLUSIONS The association of PCR and DGGE can detect a single base substitution; the Arg1689Cys mutation that inhibited activation of F VIII by thrombin is a molecular defect associated with hemophilia A in W381.

OBJECTIVE To further investigate the role that cytogenetic may play in the diagnosis and prognosis of leukemia, a study was conducted in 319 acute leukemias. METHODS 100 patients with acute lymphoblastic leukemia (ALL) and 219 patients with acute non-lymphoblastic leukemia (ANLL) were from Rui Jin Hospital, Xin Hua Hospital, Ren Ji Hospital and Shanghai Children's Hospital. Their cytogenetic data were analyzed together with those of morphology, immunology and clinical prognosis. RESULTS In ALL group, 48 cases were karyotypically normal whereas 52 cases revealed chromosomal changes, among which 32 had quantitative abnormalities and 20 had qualitative abnormalities. The translocation t(9; 22) was identified in 11 out of 20 cases of structural aberrations (55%). Specific structural aberrations t(9; 22) and t(8; 14) were detected to be related to B-lineage associated differentiation antigens and t(8; 14) also with ALL-L3 according to FAB classification. With regard to clinical prognosis, the survival rate of structural aberration subset decreased significantly compared with the normal karyotype subset (P<0.05). However, no statistically significant difference was found between hyperdiploidy subset (not including near-triploidy) and normal karyotype subset (P>0.75). In ANLL group, 80% of de novo patients and relapsed patients had chromosomal abnormalities. Importantly, structural aberrations accounted for 73% of these abnormalities and frequently corresponded to specific types of FAB classification. Relevant prognostic studies demonstrated that t(15; 17) subset had the best overall survival probability, followed by t(8; 21) and normal karyotype subset, while the numerical aberration subset showed a relatively poor prognosis. CONCLUSIONS Our data confirmed that cytogenetic study is important for the molecular study of the leukemogenesis. On the other hand, it also provides an independent parameter for prognosis in acute leukemia.

OBJECTIVE To provide the scientific basis for formulating the control strategies of schistosomiasis japonica in mountainous regions in China Schistosomiasis Control Programme. METHODS We selected Chuanxing Village in Sichuan Province and Zhonghe Village in Yunnan Province as the two pilot areas for an epidemiological investigation according to their geographical and topographical characteristics, i. e. plateau canyon and plateau basin, respectively. Concentrated-egg hatching method in nylon tissue bag and Kato-Katz technique were used for the survey on prevalence rate and intensity of infection of man and domestic animals. Questionnaires were applied to investigating the infection sources, community behavior and the socioeconomic status. Snail survey and detection of cercaria-infested water bodies were conducted using routine techniques. RESULTS The results showed that in the endemic areas with plateau canyon, the key infection source was cattle. The infection rate in women was higher than that in men. The pattern of water-pollution was wild feces and the pollution source was cattle feces. Snails and infectious snails were distributed over the rice fields and the resident was infected through production activities. In plateau basin, the key infection source was human beings. The infection rate in men was higher than that in women. The pattern of water pollution was fertilization. The pollution source was human feces. Snails and infectious snails were distributed over the canals and ditches and the resident was infected through production and daily activities. CONCLUSIONS Therefore, it was suggested that the mountainous endemic areas should be divided into two sub-types, i.e., plateau basins and plateau canyons. The different control strategies should be formulated in accordance with the environmental situations and socioeconomic factors in the two kinds of endemic areas.

OBJECTIVE To probe into the similarities and differences of birth weight by gestational age between China and the United States by a comparative study. METHODS For China, we used the records of 24,150 single livebirth neonates. These records were collected between February 1986 and May 1987 from 43 hospitals and health care units in 15 large and middle cities in the South and North of China. For the United States, we used the natal records of National Center for Health Statistics from 1980 to 1987, selecting infants whose parents were coded as white and with higher socioeconomic backgrounds in the birth records. A total of 6,295,102 singleton livebirth neonates were selected. We used a method based on probability plots to define birth weight distributions. RESULTS The 50th and 95th percentiles of birth weights by gestational age of American newborns with white parents were more than those of Chinese newborns. The 50th percentile values of birth weights of American male and female newborns were 357 g and 277 g (about 10% and 8% respectively of the birth weight of a term newborn) more than those of Chinese male and female newborns respectively at 40 weeks of GA. CONCLUSIONS American white newborns were heavier than Chinese newborns. The differences were mainly due to race-specific influences, and were related to the differences in socioeconomic and educational background. We suggest that the references of birth weight by gestational age should be formulated separately in China and in the U.S.

OBJECTIVE The infection of Hepatitis B virus (HBV) in the uterus may occur in neonates born to HBV carrier mothers. The rates of intrauterine transmission in these neonates were 10%-16%, Recent studies on the methods of combined passive and active immunizations indicate an efficacy approaching 70%-90%, but intrauterine infection of HBV is the major cause of failure of vaccination to combat hepatitis B in neonates born to HBV carrier mothers. We studied the interruptive effect of HBV specific immunoglobulin (HBIG) before delivery in the prevention of intrauterine transmission of HBV. METHODS Of 3632 pregnant women, two hundred and four were HBV carriers; they were randomly divided into an HBIG group and a control group. Each subject in the HBIG group received 200 IU of HBIG intramuscularly at 3, 2 and 1 month before delivery. The subjects in the control group did not receive any specific treatment. Blood tests were conducted for all the subjects and their neonates after birth. Blood specimens were tested for HBsAg and HBeAg by enzyme immunoassay (Abbott Kits). RESULTS The results showed that the rates of intrauterine transmission in the two groups were 5.7% and 14.7% respectively (X2=4.58 P<0.05). No significant differences were observed for the positive rates of HBsAg and HBeAg between the two groups after delivery, but titer of HBsAg was reduced significantly in the HBIG group (t=4.82, P<0.01). CONCLUSIONS Our study suggests that HBV infection in the uterus may be interrupted using multiple HBIG intramuscularly before delivery without any side effects.

OBJECTIVE To investigate the expression of nm23-H1 in epithelial ovarian cancer. METHODS A total of 55 specimens from patients with epithelial ovarian cancers, 15 patients with serous cancers, 7 with mucinous cancers, 17 with endometrioid cancers and 16 with adenocarcinomas, were examined for the expression of nm23-H1 by means of the immunohistochemical technique. RESULTS The total positive rate was 23.64% (13/55). The tissular nm23-H1 immunostaining had significantly higher expression in mucinous cancer (57.14%) than in other histologic types of epithelial ovarian cancer (P<0.05). Compared to that in the primary tumor, nm23-H1 expression in the omental metastatic tumor in the same patient was reduced. CONCLUSIONS The expression rate of nm23-H1 is higher in the primary tumors than in the metastatic tumors and is different in various histologic subtypes of epithelial ovarian cancer. The expression of nm23-H1 may participate in the inhibitory process of tumor invasion.

OBJECTIVE To examine the role of otoacoustic emissions and auditory efferent system function in evaluating auditory functional status in both normal and diseased conditions. METHODS Spontaneous and transient evoked otoacoustic emissions and efferent function in terms of contralateral white noise induced transient evoked otoacoustic emission suppressions were tested and cross compared in 32 normal ears, 24 ears with cochlear hearing loss and 16 ears with retrocochlear hearing loss. RESULTS Transient evoked otoacoustic emission amplitude and contralateral suppression, spontaneous otoacoustic emission incidence, peaks and frequency range were significantly reduced in cochlear hearing loss while in retrocochlear hearing loss transient evoked otoacoustic emission and spontaneous otoacoustic emission levels were significantly higher than in cochlear hearing loss group and showed no suppression. CONCLUSIONS Contralateral acoustic stimulation induced transient evoked otoacoustic emission suppression as an index of efferent function is clinically feasible. Combined otoacoustic emission and efferent tests are of great significance in evaluating cochlea status and auditory central mechanisms. Auditory efferent function is weakened in cochlear lesions and severely damaged in retrocochlear lesions.

OBJECTIVE To further carry out a quantitative immunohistochemical study on neuropeptides (NPs) participation in perennial allergic rhinitis (PAR) in nasal mucosa. METHODS By using light microscopy (routine hematoxylin and eosin staining, Wright's staining and 1% toluidine blue staining) and scanning as well as transmission electron microscopy, an exhaustive immunohistochemical and morphometric study was made on the changes of substance P (SP), neuropeptide A (NKA) and neuropeptide B (NKB) in the nasal mucosa of a toluene-2,4-iso-cyanate (TDI)-induced PAR model of rat. RESULTS The results showed that the densities of all three peptidergic terminals were significantly increased (P<0.01) in experimental group (115.72±28.43 for SP, 39.23±10.34 for NKA and 37.24±11.22 for NKB, respectively) as compared with those in control group (49.65±11.23 for SP, 12.44±6.21 for NKA and 13.31±7.60 for NKB, respectively). Increased staining, thickening of peptidergic terminals and enlargement of varicosities were found. Mast cell infiltration in nasal mucosa was in parallel with increase of peptidergic terminals. CONCLUSIONS All results support the hypothesis that NP is a newly-recognized but potentially important factor in the pathogenesis of PAR.

OBJECTIVE To examine the difference in the light sensitivity in the central visual field between the normal subjects and patients with or without the early visual field damages and propose the criteria to identify the possible early disturbances in the visual field. METHODS Light sensitivities at the 76 locations in the central field were measured in 108 normal eyes of 75 normal volunteers aged from 20 to 78 years, and 82 eyes of 53 patients with early open-angle or closure-angle glaucoma on the Humphrey Field Analyzer (Model 610), using the Central-30-2 program. RESULTS No sex and eye differences were found. The significant differences in the light sensitivities existed between the age of 20-45 years and the age of 46-78 years in the normal subjects. The lower limit of 80% normal range for each location in the central field of the two age groups was calculated. The light sensitivity decreased by 2-3 dB at every 10 degree from the eccentricity. The light sensitivity in the inferior field was 1-2 dB higher than that in the superior field. There was no statistical difference between the nasal and the temporal field. For the patients with the field defects, the light sensitivity of many locations decreased by 4-8 dB, and by 1-2 dB in the patients without the field defects as compared with the normal controls. CONCLUSIONS Based on comparisons with the normal controls and the lower limit of 80% normal range, we proposed the following criteria for classification of the damages in the glaucoma visual field. Grade I: light sensitivity reduces by 1-3 dB at a cluster of locations in the field; Grade II: light sensitivity reduces by 4-6 dB at a cluster of locations in the field; Grade II: light sensitivity reduces by more than 6 dB at a cluster of locations in the field.

OBJECTIVE To compare the effect of vascularized and nonvascularized fibula grafting performed for the reconstruction of bone defects after the resection of bone tumors. METHODS Vascularized fibula grafting was performed in 18 patients with malignant or aggressive benign bone tumor of the extremities. Non-vascularized fibula grafting was performed in 15 patients with giant cell tumor of the radius. All the 18 patients were followed up with radiography, single photon emission computed tomography (SPECT), colored Doppler's sonography (CDS) examinations and functional observation for 2 to 14 years. RESULTS Vascularized fibula grafts with bone defects of 9 to 26 cm showed good blood supply in emission computerized tomography (ECT) and radiography examinations, and bone union was achieved (Table 1). In non-vascularized fibula grafting cases (Table 2), bone union was not achieved. CONCLUSIONS The advantages of vascularized grafting are the feasibility of one-stage reconstruction of various tissues and the growth of grafted fibula. It is necessary to adopt vascularized fibula grafting to reconstruct large bone defect resulting from the resection of extensive bone tumors, such as giant cell tumor (GCT), fibrous dysplasia of bone and malignant bone tumors.

Methicillin resistant Staphyloccus aureus (MRSA) is a bacterium. The medical community requests development of new antibiotics to combat MRSA and many pharmaceutical companies are working to do this.

In China, the incidence of cleft lip and palate in almost the same as in other countries, ranging from 1.34‰ to 3.07‰ in new born babies. The population in China is the largest in the world, and the incidence of cleft lip and palate is also the largest.

OBJECTIVE To investigate safety and De-qi (obtaining of needling sensation) depth of acupoint and their relation to therapeutic effect, and to electric resistance. METHODS 1) We plotted the graph to compare the differences of each acupoint depth between modern and ancient acupuncture writings; 2) 80 cadavers, and 240 subjects with computer tomography of chest to study the safety depth of acupoint were used, and their correlation to the length of the second phalanx of middle finger as Tong Shen Cun's standard; 3) 300 subjects were divided according to their body height and weight into normal-weight, over-weight and under-weight groups of 100 subjects to study the De-qi depth of acupoint; 4) using the 120 subjects which accepted acupuncture treatment due to pain symptom to study the relation between De-qi depth and therapeutic effect; 5) 107 subjects of different sizes were used to study the relation between De-qi depth and thickness of body, and electric resistance. RESULTS Acupoint depth was greater in modern acupuncture writings than in ancient writings. The safety depth of each acupoint in chest and in back was different, and they had high correlation to Tong Shen Cun's standard in adults, but not in newborns. The safety depths in chest acupoints were greater in female than in male, but not in back, and they related to body size. The De-qi depth was correlated with their therapeutic effects, corresponding to body thickness, but not related to their electric resistance. CONCLUSIONS Safety and De-qi depth of acupoint are related to body thickness. The length of the second phalanx of middle finger may be used as Tong Shen Cun's standard in adults, but not in newborns.

Pregnancy induced hypertension (PIH) is a serious complication of pregnancy. Its basic pathophysiological change is well known as a generalized spasm of the smaller arterioles. In severe cases, if the cerebral vessels and involved, it could result in cerebral vessels are involved, it could result in cerebral ischemia, edema, infarction and haemorrhagia, and even cause death.