2001年 · 第114卷第04期

Objective To provide epidemiological data for revising the diagnostic criteria of neonatal hyperbilirubinemia in China. Methods A survey was performed among full-term infants in multiple centers throughout the country. From less than 24 hours after birth, the infants' bilirubin levels were measured every day until the peak level fell to less than 68.4 μmol/L. Auditory brainstem responses were assessed in 56 infants randomly chosen from those with serum bilirubin levels of higher than 220.5 μmol/L. Results Jaundice in most infants was detected at 2-3 days after birth. The bilirubin level usually reached a peak level of 204±54.69 μmol/L at 5 days after birth and then fell. Among the 875 infants, the serum bilirubin levels in 34.4%of neonates were higher than 220.5μmol/L. The mean serum bilirubin level of the infants during the first week after birth varied with geography (P <0.001) and season (P<0.001). The serum bilirubin level was significantly associated with gestation age (P<0.01), delivery method (P <0.01), weight loss (P<0.001), and PCV elevation (P<0.001) during the first three days after birth. Conclusions The start time of neonatal jaundice was similar to that reported elsewhere, but the mean peak level in our study was higher than the reported. It is suggested that the diagnostic criteria for neonatal hyperbilirubinemia in China should be strict. Chin Med J 2001; 114(4): 344-347

Objective To prepare rat heme oxygenase-1 (HO-1) mutants and to determine the activity and inhibition of this mutated enzyme. Methods pcDNA3HO1 containing truncated native rat HO-1 cDNA and pcDNA3HO1 △25 carrying mutated rat HO-1 cDNA (His25Ala) were constructed, respectively. COS-1 cells transfected with pcDNA3HO1 and pcDNA3HO1△25 were collected and their activities were analyzed. Results Native rat HO-1 was highly expressed in transfected cells and its activity was 13 688 -15 600 U/mg protein per hour. However, the enzyme activity of mutated HO-1 declined and the value was 1948 -2160 U/mg protein per hour. When an equal amount of mutant was added to the enzyme reaction system, the level of bilirubin decreased by 42%. Conclusion The His25Ala mutant reduced the formation of bilirubin, suggesting that the mutant could competely bind the heme with native enzyme. Chin Med J 2001; 114(4): 348-351

Objective To assess the correlation between hepatitis B virus (HBV) surface gene mutant infection and hepatitis B (HB) vaccination failure. Methods Using sera from 106 infants who were born to HBV carrier mothers and failed in HB immunoprophylaxis, HBV S gene was amplified by PCR, transferred to nylon membranes for Southern blots, and then hybridized with oligonucleotide probes. Eleven of non-hybridizing samples were used for DNA sequencing. Results 93.4%(99/106) of the samples were HBV DNA positive, and 30.3%(30/99) failed to hybridize with at least one of the four probes. DNA sequencing confirmed that 10 of the 11 samples had an S gene mutation with amino acid (aa) change. The identified mutants included nucleotide (nt) 546T→A(aa131 N→T), nt531T→C (aa126l→T), nt491 A→C (aa113T→P), nt491T→A (aa113S→T), nt533C→A(aa127P→T), nt581T→A (aa143S→T), nt636A→T (aa161Y→F), and nt679A→C (aa175L→F) . The sequence in one mother-infant pair was completely the same, with mutations at aa131 and aa161. Conclusions The prevalence of HBV surface mutants is about 30%in the children failing in HB vaccination. HBV mutants can infect infants by maternal-infant transmission. Chin Med J 2001; 114(4): 352-354

Objective To study the selective toxicity of immunotoxin (IT) on T cells in cord blood and simultaneously determine its effect on hematopoietic progenitor cells. Methods The percentage of CD5 and CD8 T cell subsets in cord blood (CB) and bone marrow (BM) as well as peripheral blood (PB) was measured by immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes). One-way mixed lymphocyte cultures (MLC) were performed to compare the proliferative response of CB with that of PB. The proliferative capability of cord blood T cells and T lymphocyte transformation capacity were evaluated in the presence of anti-CD8 or anti-CD5 immunotoxin by one-way MLC and colorimetric MTT (tetrazolium) assay, respectively. The effect of IT on the growth of hematopoietic progenitor cell of colony forming unit-granulocyte and macrophage (CFU-GM), burst forming unit-erythroid(BFU-E), multipotential hemotapoietic progenitors (CFU-Mix) from CB were estimated by colony-forming assays. Results A certain proportion of CD5 and CD8 T cells existed in CB. The alloproliferative capacity of CB was similar to that of PB. CD5: Ricin at a dosage of 1 × 10-10 - 1 × 10-8 mmol/L and CD8: Ricin concentration in the range of 1 × 10-9 - 1 × 10-8 mmol/L effectively decreased both the proliferative capability of T cells in MLC during CB and T cell transformation. Over the dosage of 1 × 10-10 - 1 × 10-9 mmol/L, both kinds of IT didn't obviously affect the growth of hematopoietic progenitor cells. Conclusion CD5: Ricin and CD8: Ricin may effectively deplete T cells and may not significantly inhibit the function of hemaptopoietic cells at a specific dosage. Chin Med J 2001; 114(4): 355-359

Objective To assess the effectiveness of magnetic resonance imaging (MRI) and cine magnetic resonance imaging (cine-MRI) in the diagnosis of infantile congenital heart disease. Methods A total of 34 cases were studied with MRI and cine-MRI. The data were analyzed and compared with those of two-dimensional echocardiography (2DE), cardioangiography (CAG) and surgery. Results The size of the defect or its caliber obtained from MRI in 6 patients with left to right shunt congenital heart disease was compatible with that observed in surgery (P=0.924). Comparison of cine-MRI and CAG in 28 patients with complicated congenital heart disease showed that the diagnosis of 27cases by cine-MRI was the same as that by CAG. Conclusion Both MRI and cine-MRI play an important role in diagnosing infantile congenital heart disease. Chin Med J 2001; 114(4): 360-363

Objective To determine the epidemiologic pattern of subgroups A and B and genotypes of respiratory syncytial virus (RSV) during two noncontinuous epidemics during 1990-1991 and 1997-1998 in Beijing. Methods Nasopharyngeal secretion(NFS)samples of RSV positive or RSV isolates tested by indirect immunofluorescence(IIF)assay were classified into subgroups A and B. Isolates of RSV were divided into at least six different lineages, designated NP1-NP6, by restriction mapping of the N gene. Np1, 3 and 6were given by subgroup B isolates, while NP2, 4 and 5 were given by subgroup A isolates. Strains of subgroup A were further subdivided into six lineages SHL1-SHL6 on the basis of the SH gene sequence. SH lineages were closely related to each other and to NP1-NP6. Strains of SHL1, 3 and 4 were closely related and belonged to NP2, SHL2 and 6 to NP4, and SHL5 to NP5. Results Of 145 RSV NPS samples from the 1997-1998 epidemic, 83(57.2%)were of subgroup B RSV positive, 62(42.8%)of subgroup A RSV positive. The rate of occurrence of subgroup A to B strains was about 1:1.3. Two of 10 isolates during the epidemic were subgroup A strains, whereas 8 were subgroup B strains. The rate of occurrence of subgroup A to B strains was 1:4. Eight subgroup A strains of 10 isolates from the 1990-1991 epidemic were dominant; the proportion of subgroup A to B strains was 4: 1, With 10RSV isolates in 1997-1998, all 2 subgroup A strains gave N gene fragment restriction pattern NP4, and fell into SH lineage SHL2, whereas 8 subgroup B strains all belonged to NP3. All 8 subgroup A isolates from the 1990 - 1991 epidemic gave pattern NP4, and fell into SHL2, while 2 subgroup B strains all belonged to NP3. The classification of subgroups A and B deduced from NP patterns corresponded to the definition of these subgroups by monoclonal antibodies. Conclusions These observations confirm that subgroups A and B or multiple lineages of RSV co-circulated in Beijing, but different genome types predominated each year. Moreover, very similar viruses were isolated up to more than 5 years ago, indicating that despite apparent diversity of the subgroup A strains, the separate lineages might be relatively stable. Chin Med J 2001; 114(4): 364-368

Objective To explore the characteristics of arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods Seven patients with arrhythmogenic right ventricular cardiomyopathy and 34 members of three families were studied. All patients and family members underwent history collection, clinical examination,electrocardiogram (ECG), two-dimensional echocardiography (2-DE) and a signal averaging electrocardiogram. Programmed ventricular stimulation was performed in five patients. Results All patients and family members had normal morphologic characteristics and normal function of the left ventricular by 2-DE. Fourteen persons had abnormal findings indicating ARVC. Five had enlargement of the right ventricular with diffused hypocontractility, eight had thin and systolic bulging in the focal anterior wall with hypokinesia and one had bulging of the inferior wall. Twenty-five persons (seven patients and 18 family members) had abnormal findings in ECG. Positive ventricular late potential was recorded in 13 persons (six patients). Two to three monomorphic ventricular tachycardia (VT) with left bundle branch block (LBBB) configurations were induced in five patients. Ventricular fibrillation was induced in two patients during the electrophysiologic study (EPS). Five patients had very high pacing threshold and/or ineffective pacing in one or many regions of the right ventricle. Two members of one family died suddenly. One member was a dwarf with ARVC. Spontaneous VT with a left bundle branch block (LBBB)configuration was recorded in five patients, polymorphic VT with extremely short coupling interval in one,and premature ventricular complexes with LBBB configuration in 12 (six patients). Conclusion Our familial study strongly suggests that ARVC may be a hereditary disease and it is helpful in the diagnosis and detection of ARVC. The most common manifestations were abnormal structure and function of the right ventricle and abnormal ECG of repolarization and ventricular arrhythmia which originates from the right ventricle. Chin Med J 2001; 114 (4): 369-373

Objective To investigate the clinical and pathological characteristics of pauci-immune crescent glomerulo¬nephritis (PICGN) in Chinese patients. Methods During 13 years (1985 - 1998), 6400 patients underwent non-transplanting renal biopsy. Twenty-four patients were diagnosed as PICGN. All clinical and laboratory data of these patients were collected from the patients ' records and used for detailed analysis. The diagnosis is based on clinico¬pathologic findings. Results Of the 24 patients, 16 were females and 8 were males, with median age of 33 years (ranged 10-76 years). Microscopic polyarteritis (MPA) (33.3%) and systemic vasculitis (8.3%) were the secondary diseases. The incidence of PICGN was 0.38%in renal biopsies and 22.9%in crescentic glomerulonephritis. Clinically, most patients (75.0%) showed rapidly progressive nephritis with enlarged kidneys. At onset, gross hematuria was noted in 58.3%of patients, hypertension in 45.8%^ nephrotic syndrome in 41 .7%, and oliguria in 25.0%. However, systemic symptoms were rare except for anemia. Pathologically, necrosis of glomerular capillaries (62.5%), infiltration of monocytes and neutrophil cells in glomeruli (66.7%), and vasculitis in the interstitium (53.3%) were observed. In addition,glomerulosclerosis was noted in 45.8%, severe tubular atrophy in 83.3%and interstitial fibrosis in 75.0%. Anti-neutrophil cytoplasmic antibodies (ANCAs) were positive in 52.2% . All patients except two received intensively immunosuppressive therapy. Sixteen patients were available for long-term follow up (median 29.8 months, range 8-92 months). Twelve of them had life-sustaining renal function, four had normal serum creatinine (<124 nmol/L) and only 4 patients were dialysis-dependent. Conclusion PICGN is not rare in China. Early diagnosis and administration of immunosuppressive therapy, particularly in patients with rapidly progressive glomerulonephritis (RPGN), are important for good prognosis. Chin Med J 2001; 114(4): 374-378

Objective To investigate the factor V Leiden mutation associated with activated protein C resistance(APCR) in Chinese. Methods Thirty "normal" individuals and twenty patients with thrombotic disease from Chinese Han Nationality were studied with APTT±APC, PCR followed by MnLI restriction enzyme analysis, PCR based direct sequence-specific primers(PCR-SSP)and DNA sequence analysis. Results In one healthy control, the activated protein C (APC) sensitivity ratio (SR) was found to be significantly lower (0.8) than that in other normal control (> 2.0). This individual was identified to be heterozygous for FV Leiden mutaiton (Arg506-Gln). His grand-uncle, father, brother and son were also identified to be heterozygous for FV Leiden. The APC resistance was found in 3 other cases of thrombotice diseases, but with no FV Leiden mutation. Conclusion This is the first four generations family case of FV Leiden mutation associated with APCR reported within Chinese ethnic population. It is note-worthy that more FV Leiden or whether other gene defects may be associated with APC resistance and acquired APCR causing thrombosis in Chinese population. Chin Med J 2001; 114(4): 379-381

Objective To study the role of simian virus 40 (SV40) early region gene coding product large tumor antigen (Tag) expression and the interaction between Tag and tumor suppressors p53 and pRb in human brain tumorigenesis. Methods Tag was investigated by immunoprecipitation followed by silver staining and Western blot in 65cases of human brain tumors and 8 cases of normal brain tissues. Tag-p53 and Tag-pRb complexes were screened in 18 and 15 Tag positive tumor tissues, respectively. Results Tag was found in all 8 ependymomas and 2 choroid plexus papillomas. 90%of pituitary adenomas (9/10), 73%of astrocytomas (11/15), 70%of meningiomas (7/10), 50%of glioblastomas multiforme (4/8), 33%of medulloblastomas (2/6). 5 oligodendrogliomas, 1 pineocytoma, and 8 normal brain tissues were negative for Tag. Tag-p53 complex was detected in all 18 Tag positive tumors. Tag-pRb complex was found in all 15 Tag positive tumors. Conclusion SV40 Tag is expressed in human brain tumors and can form specific complexes with tumor suppressors p53 and pRb. The inactivation of p53 and pRb due to the formation of Tag-p53 and Tag-pRb complexes may be an important mechanism in the etiopathogenesis of human brain tumors. Chin Med J 2001; 114 (4): 382-386

Objective To investigate the effect of acidum vitamin A on tyrosinase activity and provide experimental evidence for therapy of pigment disorder of skin. Methods Tyrosinase activity was estimated by measuring the rate of oxidation of DL-dopa. Results The levels of tyrosinase activity in the acidum vitamin A group were significantly greater than those of the control group (P <0.01). Conclusion Tyrosinase activity can be increasingly induced by acidum vitamin A. Chin Med J 2000; 114(4): 415-417

Objective To gain a better understanding of genetic changes in Cantonese nasopharyngeal carcinoma(NPC). Methods Comparative genomic hybridization (CGH) was performed on 17 primary nasopharyngeal carcinomas. Results A novel copy number gain an chromosome 4q and loss of chromosome 1p were found at a high frequency (> 50%). Conclusions Current analysis revealed a comprehensive profile of the chromosomal regions showing gain of chromosomes 4q, 12q, and 1 q as well as loss of chromosomes 1p, 3p, 11q, 14q, 15q, 13q, Xq, 9q,10p, 10q, and 16q. Frequently altered loci may encode oncogenes or tumor suppressor genes involved in the development of primary NPC. Chin Med J 2001; 114 (4): 418-421