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ABSTRACT: To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.
Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.
The sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.
The clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.
Zhonghua er ke za zhi. Chinese journal of pediatrics 08/2012; 50(8):601-5.
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ABSTRACT: To explore the incidence of various types of mucopolysaccharidosis (MPS) and their clinical characteristics.
A total of 75 children highly suspected as having MPS underwent quantitative and electrophoretic analysis of urinary glycosaminoglycans (GAGs) and enzymatic analysis of seven types of MPS from January 2009 to December 2011. Fluorescence assay was used to measure the activities of α-L-iduronidase, iduronate-2-sulfatase, α-N-acetylglucosaminidase, galactosamine-6-sulfatase, β-galactosidase, arylsulfatase B and β-glucuronidase in the white blood cells.
A total of 52 cases were confirmed with MPS based on clinical, radiological, and enzymatic examinations. The 52 cases, with a mean age of 4.0 ± 2.2 years, included 5 cases of MPS I (10%), 20 cases of MPS II (38%), 20 cases of MPS IVA (38%), 6 cases of MPS VI (12%) and 1 case of MPS VII (2%). No MPS IV B cases or MPS IIIB cases were found. Compared with healthy children of the same age, the GAG/Cr ratio was significantly elevated in 50 confirmed cases of MPS (two MPS IVA cases having no increased ratio). All children with increased urinary GAGs had a confirmed diagnosis of MPS. The age of onset was between 1 and 2 years after birth in most cases, and often complicated by hernia and valvular heart disease. Children with MPS I, MPS II, and MPS VI presented with ugly and unsmooth face, short stature, joint stiffness, and limitation of motion, while children with MPS IVA presented with short stature, skeletal dysplasia, and joint laxity.
Type IVA and type II are the most common in MPS cases, followed by type VI and type I. MPS children are characterized by special appearances including ugly and unsmooth facial appearance, short stature and skeletal dysplasia. Quantitative analysis of urinary GAG, as a simple, rapid, and reliable method, is recommended for screening of MPS.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 07/2012; 14(7):510-4.
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ABSTRACT: To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.
The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.
The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L). The biochemical markers showed urinary glycosaminoglycans (GAG) (532.8 mg/L, controls < 70.0 mg/L). The ratio of GAG/creatinine was 161.3 (controls: 26.2 ± 11.7). Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control < 53 nmol/(ml·h)]. Beta-glucuronidase activity was deficient in isolated leukocytes.
Severe form of mucopolysaccharidosis VII exhibited characteristics of hydrops fetalis, hepatosplenomegaly, coarse face, thrombocytopenia and Alder-Reilly granules in the leucocytes. The measurements of GAG in urinary and beta glucuronidase in leucocytes are critical to diagnosis and deferential diagnosis.
Zhonghua er ke za zhi. Chinese journal of pediatrics 06/2011; 49(6):455-8.
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ABSTRACT: To study the influence of cord blood total nucleated cell (TNC) dose on the efficacy of cord blood transplantation in children.
Thirty-four children with hematological disease received cord blood transplantation. They were assigned to 3 groups according to the infused TNC dose: TNC>10 x 10(7)/kg (n=7), 10 x10(7)/kg>TNC> or =7 x 10(7)/kg (n=9) and TNC<7 x 10(7)/kg (n=18). The rates of graft and rejection of hematopoietic stem cells and the efficacy of transplantation were examined in the three groups.
All 7 children in the group infused with TNC >10 x 10(7)/kg got a long-term stable engraftment. The median time of absolute neutrophil count >0.5 x 10(9)/L was 14.8 days (range 12-20 days) and platelets >50 x10(9)/L was 52.3 days (range 26-86 days). They survived in a disease-free state. Of the 9 children in the group infused with TNC between 10 x 10(7)/kg and 7 x 10(7)/kg, 7 got engraftment. The median time of absolute neutrophil count >0.5 x 10(9)/L was 16.4 days (range 11-30 days) and platelets >50 x 10(9)/L was 63.7 days (range 34-140 days). Four children got a long-term stable engraftment and survived in a disease-free state. Two children with beta-thalassemia major had secondary rejection after engraftment and autologous hematopoitic recovery. One child died after engraftment and one child died in the early period after transplantation. Of the 18 children in the group infused with TNC<7 x 10(7)/kg, 16 children got engraftment. The median time of absolute neutrophil count >0.5 x 10(9)/L was 19.5 days (range 10-29 days) and platelets >50 x 10(9)/L was 70.1 days (range 41-116 days). Eight children had a long-term stable engraftment and survived in a disease-free state. Two children with beta-thalassemia major had secondary rejection after engraftment and autologous hematopoitic recovery. Six children died after engraftment. Two children had graft failure.
TNC dose is an important influencing factor for hematopoietic stem cell engraftment in cord blood transplantation. An increased TNC dose may improve the success of cord blood transplantation.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 07/2010; 12(7):551-6.
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Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 03/2009; 11(2):81-7.
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ABSTRACT: To investigate the effects of fluoxetine on depression-induced changes of mast cell morphology and protease-1 (rMCP-1) expression in rats.
A Sprague-Dawley rat model of chronic stress-induced depression was established. Fifty experimental rats were randomly divided into the following groups: normal control group, fluoxetine+normal control group, depressed model group, saline+depressed model group, and fluoxetine+depressed model group. Laser scanning confocal microscopy (LSCM) immunofluorecence and RT-PCR techniques were used to investigate rMCP-1 expression in gastric antrum. Mast cell morphology was observed under transmission electron microscopy. ANOVA was used for statistical analysis among groups.
Morphologic observation indicated that depression induced mast cell proliferation, activation, and granule hyperplasia. Compared with the normal control group, the average immunofluorescence intensity of gastric antrum rMCP-1 significantly increased in depressed model group (37.4+/-7.7 vs 24.5+/-5.6, P<0.01) or saline+depressed model group (39.9+/-5.0 vs 24.5+/-5.6, P<0.01), while there was no significant difference between fluoxetine + normal control group (23.1+/-3.4) or fluoxetine+depressed model group (26.1+/-3.6) and normal control group. The average level of rMCP-1mRNA of gastric antrum significantly increased in depressed model group (0.759+/-0.357 vs 0.476+/-0.029, P<0.01) or saline+depressed model group (0.781+/-0.451 vs 0.476+/-0.029, P<0.01), while no significant difference was found between fluoxetine+normal control group (0.460+/-0.027) or fluoxetine+depressed model group (0.488+/-0.030) and normal control group. Fluoxetine showed partial inhibitive effects on mast cell ultrastructural alterations and de-regulated rMCP-1 expression in gastric antrum of the depressed rat model.
Chronic stress can induce mast cell proliferation, activation, and granule hyperplasia in gastric antrum. Fluoxetine counteracts such changes in the depressed rat model.
World Journal of Gastroenterology 01/2009; 14(45):6993-8. · 2.47 Impact Factor
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ABSTRACT: This study was aimed to investigate the effect of intra-bone marrow (IBM) injection of allogeneic mesenchymal stem cells (MSCs) on reconstruction of bone marrow MSCs (BM-MSCs) in rats that received hematopoietic stem cell transplantation (HSCT), and to detect the donor MSCs in the hosts for clarifying the effect mechanism of donor MSCs. Wistar female rats conditioned with lethal dose 60Co gamma-ray irradiation were co-transplanted with F344 female fetal and neonatal peripheral blood (FNPB) and BrdU-labeled MSCs separated from bone marrow mononuclear cells of F344 male rats. The donor MSCs were infused by IBM injection in bilateral tibia or intravenous injection (IV), while the FNPB were all via IBM route. The survival rate, engraftment level of HSCs and recovery of BM-MSCs of recipients were monitored. The ratio of BrdU-labeled MSCs in recipient rats was calculated by immunofluorescence assay (IFA) and the Y chromosomes were examined by PCR. The results showed that the recipient rats of the two co-transplantation groups were all alive at day 60 after transplantation. There was no significant difference between these two groups on the survival rates or the engraftment levels of HSCs, but each of them was much better than that of the FNPB group. At day 30 after transplantation, the proliferation ability of recipients' BM-MSCs was still below normal, while that of the FNPB (IBM)+MSC (IBM) group was the best of all the experiment groups (p<0.01). At 60 days, the donor MSCs coexisted with host MSCs in only a few recipient rats examined by IFA, while the Y chromosomes could be detected in all the recipient rats in the two cotransplantation groups. It is concluded that the infusion of allogeneic MSCs can accelerate the recovery of HSCT recipients' BM-MSCs. The IBM route is safe and more effective than intravenous infusion.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 12/2008; 16(6):1334-8.
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ABSTRACT: To study the status of growth and development and the relationship between growth disorders and iron overload in children with beta-thalassemia major.
Fifty children with beta-thalassemia major and who received blood transfusion therapy regularly (age: 9 months-17 years) were enrolled. They were subjected to a thorough history taking, clinical examinations, and laboratory examinations, including complete blood count, alanine transferasa (ALT) and serum ferritin. The physical growth parameters, such as height and weight, were compared with the reference values of Chinese children.
Twenty-four patients (48%) were of short stature with height under the 3th percentile. Among them, 15 cases presented with their height and weight both under the 3th percentile. Spontaneous sex development was seen in 7 cases out of 21 over 10-year-old patients. No sex development was found in 4 out of 8 patients who were over 14 years old. The patients with a height under the 10th percentile (n=31) had higher serum ferritin levels (8239.2+/-5865.5 mg/L vs 5028.1+/-3885.7 mg/L; P<0.05) and lower hemoglobin levels (68.2+/-12.3 g/L vs 79.7+/-14.5 g/L; P<0.05) as well as hepatomegaly when compared with those patients with a height over the 10th percentile (n=19). Serum ferritin levels in 20 patients with a weight under the 10th percentile were significantly higher than those in 30 patients with a height over the 10th percentile (9165.5+/-6042.5 mg/L vs 5567.3+/-4447.3 mg/L; P<0.05).
Short stature, low weight and sex development delay are common in children with beta-thalassemia major. This may be related to iron overload.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 10/2008; 10(5):603-6.
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ABSTRACT: To study the biological characteristics of bone marrow-derived mesenchymal stem cells (MSC) in children with aplastic anemia (AA) and evaluate the relationship of biological characteristics of MSC with the efficacy of immunosuppressive therapy (IST).
Bone marrow-derived MSC were cultured and isolated from 29 children with AA and 5 normal controls. Seventeen out of the 29 cases received IST. Surface markers and cell cycle of MSC at passage 3 were analyzed by flow cytometry. The inhibition of lymphocyte proliferation by MSC was evaluated and TGF-beta 1 level in the supernatant of MSC was detected using ELISA.
Growth abnormality of MSC was found in 16 children with AA (55%), characterized by deficiency and poor proliferation of MSC, and was frequently seen in patients with severe AA or in patients with more prolonged disease course or in patients with radiation/chemotherapy-induced AA. Surface markers, cell cycle and TGF-beta 1 level in the supernatant of MSC at passage 3 and the inhibition of lymphocyte proliferation by MSC in the AA group were similar to those in the control group. Eight out of nine patients with normal MSC growth achieved complete remission (CR) but only 2 out of 8 patients with abnormal MSC growth achieved CR following IST ( P<0.01).
Bone marrow-derived MSC growth abnormality occurs in most of children with AA. MSC abnormality may affect adversely hematological recovery following IST.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 02/2008; 10(1):9-13.
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ABSTRACT: This study was purpose to investigate the frequency of HLA-DRB1*15 expression in children with aplastic anemia (AA) and its relation to effect of immunosuppressive therapy. HLA-DR genotypes were detected by SSP-PCR in 40 patients with acquired aplastic anemia and 107 normal controls, and the expressions of HLA-DR gene in AA patients and normal controls were compared. 32 out of 40 patients were treated with immunosuppressive therapy, which included antilymphocyte globulin combining with cyclosporine or cyclosporine alone, the relation of HLA-DRB1*15 expression to efficacy of immunosuppressive therapy and relapse of AA was explored. The results showed that the mean age of the patients was 9.0 years with a ratio of male to female 1.5:1. The frequency of HLA-DRB1*15 genotype expression in patients with idiopathic aplastic anemia was 51.5% (17/33), which was markedly higher than that of healthy controls (20.6%, p<0.01). All of 7 patients with second acquired aplastic anemia showed negative expression of HLA-DRB1*15. The rates of all responses, including complete remission and partial remission (CR+PR), and CR to immunosuppressive therapy in 16 patients who bared HLA-DRB1*15 were 93.8% and 87.5% respectively, which were higher significantly than those of patients without bearing HLA-DRB1*15 (56.3% and 31.3%, p<0.01). Relapse occurred in 5 patients who bared HLA-DRB1*15 genotype. It is concluded that the frequency of HLA-DRB1*15 genotype expression in children with AA is significantly higher than that in normal controls, and the immunosuppressive therapy for patients bared HLA-DRB1*15 shows favourable effect with high incidence of complete remission.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 12/2007; 15(6):1212-5.
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ABSTRACT: To investigate changes in vasoactive intestinal polypeptide (VIP) and corticotrophin releasing factor (CRF) in the plasma and duodenum of chronic stress-induced depressed rats and the effects of fluoxetine hydrochloride (fluoxetine) treatment on depression-induced changes in VIP and CRF.
A Sprague-Dawley rat model of chronic stress-induced depression was produced. Thirty experimental rats were randomly divided into the following groups: control group, saline-treated depressed group, and fluoxetine-treated depressed group. Open-field testing was performed to assess the rats' behavior. VIP and CRF levels in plasma were measured by ELISA. Immunofluorescence techniques combined with laser scanning confocal microscopy (LSCM) were used to investigate VIP and CRF expression in the duodenum.
The open-field behavior, both crossing and rearing, of depression model rats, decreased significantly compared with those of normal control rats over 5 min. Defecation times increased significantly. Compared to the control group, FITC fluorescence of duodenal CRF expression and plasma CRF levels in the depressed rats increased significantly (fluorescence intensity of duodenal CRF: 11.82 +/- 2.54 vs 25.17 +/- 4.63; plasma CRF: 11.82 +/- 2.54 ng/L vs 25.17 +/- 4.63 ng/L, P < 0.01), whereas duodenal VIP expression and plasma VIP levels decreased significantly (fluorescence intensity of duodenal VIP: 67.37 +/- 18.90 vs 44.51 +/- 16.37; plasma VIP: 67.37 +/- 18.90 ng/L vs 44.51 +/- 16.37 ng/L, P < 0.01). Fluoxetine improved depressed behavior, increased VIP expression and decreased CRF expression in plasma and the duodenal tissue of depressed rats.
Chronic stress can induce injury to the duodenum, accompanied by increasing CRF and decreasing VIP in the plasma and duodenum. Treatment with fluoxetine can ameliorate pathological changes in the duodenum of depressed rats, which suggests that antidepressants are an effective therapeutic agent for some duodenal diseases caused by chronic stress. VIP is a potential therapeutic strategy.
World Journal of Gastroenterology 12/2007; 13(45):6060-5. · 2.47 Impact Factor
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ABSTRACT: To explore the effects of infusion with human mesenchymal stem cells from bone marrow on bone marrow hematopoietic function and survival in mice with aplastic anemia (AA), immuno-mediated aplastic anemia mice model was established according to Yao's method. Thirty BALB/c female mice were divided into AA model group, MSC group and radiation group. In MSC group, 1 x 10(6) MSC was infused by intravenous injection at 3 days after establishment of model. The changes of blood count, the number of nuclear cells in a single thigh-bone, colony-forming units (CFU), pathological features of bone marrow and survival rate of mice were observed in all groups. The results showed that the number of white blood cells in peripheral blood of AA model group at day 7 after establishment of model was (0.65 +/- 0.05) x 10(9)/L, which was significantly lower than those in MSC group and radiation alone group, respectively. Pancytopenia was found in all three groups at day 10. At day 14 the pancytopenia was continued in AA model group while it was less severe in MSC and radiation groups. In MSC group the number of nucleated cells in single thigh bone and pathological slice as well as CFU-GM were significantly higher than those in AA model group, respectively. The survival rate of mice in MSC group was 80.0% which was higher than that of group in AA model (18.2%, p < 0.01). There were no significant differences between MSC group and radiation alone group in bone marrow hematopoiesis and survival rate. It is concluded that MSC infusion reduces the degree of bone marrow failure and improve survival of immuno-mediated AA mice model.
Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 10/2007; 15(5):1005-8.
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Zhonghua er ke za zhi. Chinese journal of pediatrics 11/2006; 44(10):794-5.
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Zhonghua er ke za zhi. Chinese journal of pediatrics 03/2006; 44(2):153-5.
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Zhonghua er ke za zhi. Chinese journal of pediatrics 05/2003; 41(4):309.
