Wei Wang

Peking Union Medical College Hospital, Peping, Beijing, China

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Publications (8)0 Total impact

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    ABSTRACT: Hereditary multiple exostoses (HME) is an autosomal dominant monogenic disorder of paraplasia ossium. Mutations in EXT1 and EXT2 have been suggested to be responsible for over 70% of HME cases. This study aimed to analyze the clinical features and pathogenic mutations in a Chinese family with HME (6 patients in 24 members of 3 generations) and to review the relative literature regarding mutations in EXT1 and EXT2 in the Chinese population. Clinical pedigree dada from a Chinese family of HME were collected and analysed. EXT gene mutations in this pedigree assessed by PCR and sequencing. Pubmed and Wanfang (a Chinese database) were searched for the literature related to gene mutations in Chinese HME patients. In the pedigree analyzed, the age of onset of HME was becoming younger, the disease was becoming more severe, and the number of osteochondromas was increasing, in successive generations. A splicing mutation IVS5+1G>A, first identified in Chinese population, was found in all diseased members of this pedigree. According the currently available literature, EXT1 and EXT2 mutations have been detected in 29% (26/90) and 43% (39/90) Chinese families with HME. HME starts earlier and becomes more severe and extensive with each successive generation in members of the pedigree analyzed. A splicing mutation, IVS5+1G>A, of EXT1, first identified in Chinese population, may be responsible for HME in the studied pedigree. EXT1 and EXT2 mutation rates may be different between the Chinese and Western populations.
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 02/2014; 16(2):174-180.
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    ABSTRACT: To study the difference in the EBV-DNA level in peripheral blood mononuclear cells (PBMC) and the type of Epstein-Barr virus (EBV)-infected cells in pediatric patients with chronic active EBV (CAEBV) infection, acute EBV infection (AEBV) and healthy children, and to analyze the relationship between the above difference and the clinical manifestation of CAEBV. Real-time fluorescent quantitative polymerase chain reaction (PCR) was used to detect the EBV-DNA levels in peripheral blood mononuclear cells (PBMC) in 12 normal children, 10 pediatric patients with CAEBV infection and 13 pediatric patients with AEBV infection in our hospital between March 2004 and April 2008. Immunomagnetic bead cell fractionation and fluorescent in situ hybridization (FISH) by EBV encoding RNA-1 ( EBER-1) probe were used in the healthy children, EBV-DNA positive CAEBV patients and AEBV patients to detect the type of EBV-infected cells. The average EBV-DNA level in CAEBV patients' PBMC was (6.8 x 10(7) +/- 1.1 x 10(8)) copies/ml, while the average EBV-DNA level of AEBV patients' PBMC was (1.3 x 10(6) +/- 1.6 x 10(6)) copies/ml. The average EBV-DNA level of CAEBV infected patients' PBMC was significantly higher than that of AEBV infected patients' PBMC (P<0.01). The cell fractionation and FISH in seven CAEBV patients showed that EBV in CAEBV patients infected not only B cells, but NK cells and CD4+ and CD8+ T cells to different degree, and these patients presented recurrent and persistent infectious mononucleosis (IM)-like symptoms. In 6 CAEBV patients infection mainly occurred to T cells, in one case, infection occurred mainly in CD8+ T cells, and the patient died from fulminant and deadly T lymphocytes proliferative syndrome except presenting firstly high fever, enlargment of the liver, spleen, lymphnode and the severe decrease of one or three kinds of blood cells. In 1 CAEBV patient the infection was mainly found in NK cells, who presented with hypersensitivity to mosquito biting and high IgE level (2500 U/ml). But EBV in seven AEBV patients infection was found only in B cells who presented with only IM for one time and no EBV-infected PBMC were found in the remaining 6 healthy children. There are much more EBV replications and different EBV-infected cell types in CAEBV patients. Detection of EBV-DNA level by real-time fluorescent quantitative PCR and the detection of the type of EBV-infected cells may help in diagnosis, treatment and development evaluation of children with CAEBV infection.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 07/2011; 49(7):495-500.
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    ABSTRACT: Glycogen storage disease type Ib (GSDIb, MIM: 232220) is an autosomal recessive inborn error of metabolism caused by deficiency of the glucose-6-phosphate translocase. The clinical manifestations include symptoms and signs of both the typical GSDIa, including hepatomegaly, fasting hypoglycemia, lactic acidemia and hyperlipidemia, and the dysfunction of neutrophils of recurrent infection and neutropenia. More than 84 mutations have been identified since the discovery of the SLC37A4 gene as the disease causing gene. Up to date, 5 mutations in 4 Chinese patients were reported from Hong Kang and Taiwan. In order to see the spectrum of the SLC37A4 gene mutations and the correlation between genotype and phenotype in patients with GSDIb of the mainland of China, the authors investigated 17 GSDIb patients from 15 families in this study. Data of 17 patients from 12 provinces, 11 male and 6 female, aged 6 months to 35 years, were collected from the genetic clinics of Peking Union Medical College Hospital from Oct. 2006 to Mar. 2009. All of them were Han Chinese in ethnicity. Consanguineous status was confirmed in 2 unrelated patients. All patients were presented with hepatomegaly, fasting hypoglycemia, lactic acidemia, hyperlipidemia and neutropenia with variable frequency of infections. The full coding exons, their relevant exon-intron boundaries, and the 5'- and 3'-flanking regions of the SLC37A4 gene were amplified and directly sequenced. RT-PCR was performed to verify the effect of the 2 novel splicing mutations. A total of 11 mutations were identified in 15 families. Four mutations, p.Gly149Glu, p.Pro191Leu, p.Arg415X and c.1042_1043 del CT, were previously reported, and seven mutations, p. Leu23Arg, p.Gly115Arg, p.Gly281Val, p.Arg415Gly, c.784 + 1G > A, c.870 + 5G > A and c.1014_1120del107, were novel. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A, accounting for 37%, 15% and 11% of mutant alleles respectively. RT-PCR analysis of novel mutation c.784 + 1G > A confirmed the splicing of exon 5 of 159 bp, causing inframe deletion. While mutation c.870 + 5G > A was proved to cause exon 6, 86 bp, deletion causing frame-shift. Among 15 families, 12 genotypes were identified, including 3 with homozygous mutation and 9 with compound heterozygous mutations. Homozygous p.Pro191Leu mutation was the only genotype detected in more than 1 family and was found in 4 unrelated families, including 1 patient from consanguineous marriage. A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A. The number of Chinese SLC37A4 gene mutations was extended from 5 to 14.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 03/2011; 49(3):203-8.
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    ABSTRACT: There are two different types of chronic active Epstein-Barr virus (CAEBV) infection: chronic EBV (CEBV) having persistent infectious mononucleosis (IM)-like illness with relatively good prognosis, and severe CAEBV (SCAEBV)infection that has rather severe manifestations and generally poor prognosis with many life-threatening complications, such as EBV-associated malignant lymphoma and hemophagocytic syndrome (HPS). The purpose of this study was to clarify the clinical and prognostic characteristics in 12 cases with SCAEBV infection. Data of 12 cases with SCAEBV infection were analyzed retrospectively, which included clinical and auxiliary examination, pathological data, especially EB virus (EBV)-antibodies and DNA in peripheral blood mononuclear cells (PBMC) and infected tissue, and follow-up information. Of the 12 cases, 7 were male and 5 were female. The age at the onset of diseases ranged from 35 months to 14 years (median, 11 years). The major manifestations were fever (100%), splenomegaly (91.7%), hepatomegaly (83.3%), lymphadenopathy (75.0%), and others, including skin rash, development retardation, jaundice, ascites, pulmonary hypertension, oral ulcer, cholecystitis and pleural effusion. The abnormalities of auxiliary examination were as follows: elevated LDH level (91.7%), liver dysfunction (83.3%), anemia (75.0%), leukopenia (58.3%), neutropenia (50.0%), thrombocytopenia (25.0%) and abnormal chest X-ray findings. At the time of onset, 58.3% of the patients had an IM-like illness. In all of the 12 cases, EBV serologic tests revealed high IgG antibody levels against EB viral capsid antigen (VCA). The patients often had positive IgM and IgA antibodies against VCA (33.3% and 66.7%) as well. Elevated IgG antibody level to early antigen (EA) (100.0%), occasionally positive IgA antibody (40.0%) were also seen. The mean load of EBV-DNA detected by real-time polymerase chain reaction (PCR) in the PBMC was (8.12 x 10(6), median)copies/ml. Four of 12 cases presented a poor clinical course, two of whom died from EBV-associated HPS, 1 from severe multiple pathogens infection, and 1 from multiple organ failure. In addition, 1 case developed Hodgkin's T cell lymphoma and another case showed hepatopulmonary syndrome in 2 years after splenectomy. The clinical feature of SCAEBV infection varied exceedingly. EBV-DNA load in PBMC of SCAEBV infected patients was significantly increased. More attention should be paid to the disease because of its severe complications, poor prognosis and high mortality.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 09/2009; 47(9):682-6.
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    ABSTRACT: Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and hyperlipidemia. GSD IIIA, involves both liver and muscle, and accounts for up to 80% of GSD III. The definitive diagnosis depends on either mutation analysis or liver and muscle glycogen debranching enzyme activity tests. This study aimed to establish enzymologic diagnostic method for GSD IIIA firstly in China by detecting muscular GDE activity, glycogen content and structure and to determine the normal range of muscular GDE activity, glycogen content and structure in Chinese children. Muscle samples were collected from normal controls (male 15, female 20; 12-78 years old), molecularly confirmed GSD III A patients (male 8, female 4, 2-27 years old) and other myopathy patients (male 9, 2-19 years old). Glycogen in the muscle homogenate was degraded into glucose by amyloglucosidase and phosphorylase respectively. The glycogen content and structure were identified by glucose yield determination. The debranching enzyme activity was determined using limit dextrin as substrate. Independent samples Kruskal-Wallis H test, Nemenyi-Wilcoxson-Wilcox test, and Chi-square test were used for statistical analyses by SPSS 11.5. (1) GSD III A patients' glycogen content were higher, but G1P/G ratio and GDE activity were lower than those of the other two groups (P < 0.01). In all of the three parameters, there were no significant difference between normal controls and other myopathy patients. (2) The range of normal values: glycogen content 0.31%-0.43%, G1P/G ratio 22.37%- 26.43%, GDE activity 0.234-0.284 micromol/(g. min). (3) Enzymologic diagnostic method had a power similar to that of gene analysis in diagnosis of GSD-IIIA patients. The sensitivity and specificity of enzymologic diagnostic method and mutation detection were 91.7% and 100% respectively. Enzymologic diagnostic method of GSD IIIA was firstly established in China. The range of normal values was determined. This method could be used in diagnosing suspected GSD IIIA patients in the clinic.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 08/2009; 47(8):608-12.
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    ABSTRACT: To study the characteristics of the peripheral blood lymphocyte subsets in pediatric patients with chronic active EBV (CAEBV) infection. Flow cytometry was used to detect the peripheral blood NK, B, T lymphocyte subsets and the functional, regulatory, naïve, memory and activatory subsets of T lymphocytes in 10 pediatric patients with CAEBV infection, 13 pediatric patients with acute Epstein-Barr virus infection (AEBV) and 12 healthy children in our hospital between March 2004 and April 2008. Compared with AEBV group, the number of white blood cells [3325 x 10(6)/L (median, just the same as the following)], lymphocytes (1078 x 10(6)/L), NK cells (68 x 10(6)/L), B cells (84 x 10(6)/L), total T cells (684 x 10(6)/L), CD4+ T cells (406 x 10(6)/L) and CD8+ T cells (295 x 10(6)/L) in CAEBV patients were lower (P<0.05). The functional subset of the CD4+ T cells in CAEBV group (94.5%) was lower than those of the healthy control group (98.7%) (P<0.05), but was still higher than those of AEBV group (74.0%) (P<0.05). While the functional subset of the CD8+ T cells in CAEBV (40.7%) was not dramatically different from the healthy control group (48.3%), but was still higher than that of AEBV group (21.0%) (P<0.05). Although the regulatory subset in CAEBV group (5.0%) was higher than the health control group (4.6%) (P<0.05), but lower than AEBV group (5.8%) (P<0.05). In CAEBV, the proportion of CD4+/CD8+ naïve T cells (32.3%/37.5%) was lower than that of normal group (58.3%/56.6%) (P<0.05), but the proportion of CD4+/CD8+ effective memory T cells in CAEBV group (23.9%/15.1%) was lower than that in AEBV group (36.5%/69.8%) (P<0.05), while the proportion of CD8+ fake naïve T cells in CAEBV (17.5%) was higher than the other 2 groups (P<0.05). The CD8+ activatory subset in CAEBV group (84.4%/34.0%) was higher than that of the healthy control group (44.1%/16.7%) (P<0.05), but still lower than AEBV group (96%/95%) (P<0.05). There is an imbalance in lymphocyte subsets and disturbance in cellular immunity in CAEBV patients, which may be associated with EBV chronic active infection. Detecting the peripheral haematologic parameters and lymphocyte subsets may be helpful in the diagnosis and the differential diagnosis of CAEBV.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 06/2009; 47(6):441-5.
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    ABSTRACT: To investigate the clinical manifestations, laboratory test, treatment and outcome of neuropsychiatric (NP) involvement in pediatric systemic lupus erythematosus (SLE) patients. Seventy-seven patients with NP syndromes of SLE (NPSLE) seen from 1987 to 2007 were retrospectively reviewed. The relationship between the relative factors and the relapse of NPSLE was analyzed with logistic regression model. NPSLE was found in 17.3% of the SLE patients and 75% of the NPSLE patients the NP involvements occurred in the first 2 years of the onset of SLE. The most frequent NP manifestations were headache (31.8%) and seizure disorder (29.1%). In the active phases, the levels of Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores of the 92.2% patients were higher than 15 and belonged to severe lupus. The patients were accompanied frequently with fever (88.3%) and rash (84.4%). The most frequently involved organs were kidney (76.6%) and blood system (67.5%). In the active phases, the ANA was positive (98.7%), the level of ESR increased (86.3%), the level of complement profile decreased (72.7%). The cerebrospinal fluid (CSF) study, the CT, the MRI and the EEG were abnormal (90.1%, 60.7%, 54.8%, 73.9%, respectively). All the patients received glucocorticoids and immunodepressant treatment in which 79.2% received IV high-dose methylprednisolone (MP), 51.9% received intrathecal (IT) methotrexate (MTX) and dexamethasone (DXM), 26.0% received IVIG, 2 patients received autologous peripheral blood stem cell transplantation. The mortality was 9.0%. The rate of relapse was 22.0% and in 75.0% of relapsed patients the relapse occurred within 24 months from the onset of NPSLE. The SLEDAI scores related to the relapse of the NPSLE (chi(2) = 3.987, P = 0.0459, OR = 1.172, 95% CI 1.003 and 1.370). SLEDAI scores were significantly helpful in predicting recurrence of NPSLE.
    Zhonghua er ke za zhi. Chinese journal of pediatrics 05/2009; 47(4):286-90.
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    ABSTRACT: Prader-Willi syndrome (PWS) is a complex, multisystem disorder, which is difficult to be diagnosed based on clinical symptoms and the purpose of this study is to establish methylation-specific PCR (MS-PCR) assay for the diagnosis of PWS, and evaluate its use in clinical cases. MS-PCR assay has been developed abroad for 10 years, and it is efficient, fast, specific and sensitive but it has not yet been used in clinical diagnosis in our country. Forty-four subjects were assigned to 3 groups: normal controls (n=16), typical PWS patients (n=7) and suspected PWS patients (n=21). Genome DNA was extracted by salt fractionation method and treated with CpGemone Fast Modification Kit. Using unmodified genome DNA as system control, the modified DNA was amplified by PCR with two primer pairs (M and P), and separated by agarose gel electrophoresis. All normal controls showed both 174 bp (M) and 100 bp (P) products, while all of the seven typical PWS patients demonstrated only 174 bp (M) product. In the 21 suspected patients, two cases were confirmed with PWS by MS-PCR, while others were excluded from PWS. MS-PCR appears to be a specific, efficient and convenient assay for the diagnosis of PWS.
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 09/2008; 10(4):485-8.