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OBJECTIVE: To study the survival motor neuron (SMN) gene exon 7 and 8 and neuronal apoptosis inhibitory protein (NAIP) gene exon 5 and 6 in Chinese patients with Type Ⅰ～Ⅲ SMA, and to confirm the relationship between the deletions of SMN and NAIP genes with SMA phenotype. METHODS: PCR and PCR-enzyme methods were used to detect the deletions of NAIP gene exon 5 and 6 and SMN gene exon 7 and 8 in 15 SMA (Ⅰ～Ⅲ) patients, 20 healthy relatives and 30 normal controls. RESULTS: Deletions of exon 7 and 8 of the telomeric SMN gene were 4/4, 2/3, 1/8 in Type Ⅰ, Ⅱ, Ⅲ SMA patients, respectively. One patient with Type Ⅱ lacked exon 7 but retained exon 8. No deletion was found in the controls (0/50). No deletion of exon 5 and 6 of the NAIP gene was detected in the patients, healthy relatives and controls. CONCLUSIONS: Deletions of SMN gene exon 7 and 8 examined by PCR-enzyme digestion could be recommended as an accurate gene diagnostic method for SMA with Type Ⅰ and Ⅱ. However, the method was not as useful in Type Ⅲ as in Ⅰ and Ⅱ for the diagnosis of SMA. The frequency of NAIP deletion was lower in Chinese SMA patients.
OBJECTIVE: To determine whether APOE influences the serum levels of lipid and lipoprotein. METHODS: The distribution of apolipoprotein E phenotypes was investigated in 214 children of 2 primary schools (aged 8～12, 116 males and 98 females). Phenotypes of APOE were examined with PCR. RESULTS: The E 3/3 phenotype was demonstrated in 69.2% , E 4/3 in 19.1% , E 2/3 in 9.3% and E 4/4 in 2.4% , and E 2/2 and E 2/4 were not detected. The serum levels of total cholesterol and low density lipoprotein cholesterol and apolipoprotein B were progressively lower in phenotypes E4, E3 and E2. The serum levels of HDL C, APOA1 and TG showed no statistic difference.CONCLUSIONS: APOE phenotypes do influence serum lipids of Chinese school children.
OBJECTIVE: To study the value of cardial troponin T (cTnT) and neuro peptide Y (NTY) in hyperthyroic heart disease. METHODS: The concentrations of serum cTnT and NTY were measured by ELISA method in 23 patients with hyperthyroidism, and were correlated with the myocardial systolic functions (cardic index, CI; ejective fration, EF) before and after the treatment. RESULTS: The concentrations of cTnT, NTY, FT 3, FT 4 and blood pressure (BP) at the beginning were 0.13 ± 0.04 ng/L, 192.8 ± 7.1 ng/L, 36.79 ± 4.94 ng/L, 52.96 ± 16.18 ng/L and 123.69 ± 10.06 mmHg, which after the treatment were 0.06 ± 0.03 ng/L, 140.2 ± 5.1 ng/L, 11.52 ± 4.74 ng/L, 26.81 ± 5.18 ng/L and 105.00 ± 8.66 mmHg while TSH was lower at the beginning ( 1.21 ± 0.45 U/L) than after the treatment (1.84 ± 0.29 U/L) in hyperthyroidism (t= 2.185 , 2.08, 13.3, 4.53 and 4.84, respectively). The myocardial systolic functions were damaged in hyperthyroidism. The interrelations between NTY and CI, EF were negative in hyperthyroidism (r= -0.333 and -0.203 , Y= 276.21 - 21.785 X; Y= 0.632 - 2.902 X, respectively). CONCLUSIONS: The concentrations of NTY and cTnT are higher in hyperthyroic heart disease. The higher the NTY and cTnT concentrations, the worse the myocardial systolic functions.
OBJECTIVE: To study the value of the fine needle aspirationin cytological examination for child thyroiditis. METHODS: The fine needle aspiration was performed in cytological examination for 100 patients with child thyroiditis. RESULTS: In 98 patients (98%) the clinical treatment coincided with other laboratory examinations. Two patients (2%) were misdiagnosed by typing. The sensitivity of serology (T 3, T 4, TG, TM, TSH) examination was lower. The hashimoto's thyroiditis diagnostic rate was 63.1% ～ 73.6% , lymphocytic thyroiditis was 26.0% ～ 84.7% , and other serological examinations showed no significance. CONCLUSIONS: The fine needle aspiration can obtain enough tissues for diagnosis.
OBJECTIVE: To investigate the changes of serum thyroid hormone levels in children with the simple nephrotic syndrome.METHODS: We measured the serum thyroid hormone levels in a group of simple nephrotic syndrome children (n=20) and a group of healthy controls (n=20) by radioimmunoassay double antibody (RIA-DA), and then compared the differences in serum thyroid hormone levels the 2 groups by a statistical method. RESULTS: The thyroid hormone levels in the contorl group were normal, but the serum T 3, T 4, TSH in the nephrotic syndrome group showed changes of different degrees. They were (1.0 ±0.5) nmol/L, (15.5 ± 32.4) nmol/L, and (20.2±13.2 ) mU/L, respectively. There was a significant difference between the simple nephrotic syndrome group and the controls (P< 0.01). CONCLUSIONS: There might be some significance in using serum thyroid hormone levels in children with the simple nephrotic syndrome for the improvement of management, curative effect and evaluation of prognosis.
OBJECTIVE: To explore the possibility of using the retrovirus vector (RV) in the gene therapy of neonatal neuropathy and the expression properties of target genes in the brain. METHODS: We combined human placenta alkaline phosphatase (hpAKP) cDNA obtained from plasmid DAP with RV pLXSN and transferred recombinant plasmid into packed cell line PT67 by the liposome entrapment method. We injected high titer recombinant hpAKP RV into the 1 day old mouse brain, and then determined the hpAKP expression in the brain by hybridation in situ and the enzyme histological chemistry method as well as the type of expression cells by the immunological histological chemistry method. RESULTS: The infected cells lay in the Ⅱ Ⅴ stratum of the cerebral cortex, the nuclei of the brain stem, the Purkenje cell stratum of the cerebellum, the vascular wall, and the cerebral mater. The area of positive cells increased from the 1st to the 7th day after the injection, but was smaller on the 28th day than on the 7th day after the injection, part of those being GFAP(-). RV was not found harmful to the nervous system. CONCLUSIONS: RV can transfer target genes into the newborn mouse brain effectively, including neurons. Target genes express normally. It is likely that RV could be used in the gene therapy of neonatal neuropathy.
OBJECTIVE: To study the protocol that induces adult rat bone marrow stromal cells (MSCs) to express neuron specific enolase (NSE) in vitro. METHODS: MSCs were preinduced with β mercaptoethanol for 24 h, and then induced for 5 h. The positive percentages of NSE protein expression were measured by immunocytochemistry SABC staining. RESULTS: After the induction, MSCs displayed neuronal morphologies, such as pyramidal cell bodies and processes which formed extensive networks. The positive percentage of NSE protein expression was ( 63.7 ± 4.5 )%. CONCLUSIONS: β mercaptoethanol may induce adult rat MSCs to NSE positive cells in vitro.
OBJECTIVE: To study the effect of thyroid hormones on expression of GAP 43 in cerebellum of neonatal rats. METHODS Immunocytochemical method and image analysis were used to observe changes of GAP 43 in cerebellum of both normal and hypothyroid neonatal rats. RESULTS: The body weight (14.00 ± 3.03 g, 29.88 ± 8.92 g), brain weight (0.825 ± 0.078) g, (1.150 ± 0.110) g and thyroid hormones levels T 3: (0.26 ± 0.28) nmol/L, T 4: (10.00 ± 4.80) nmol/L of 15 or 30 day hypothyroid rats were significantly weaker than that of age matched euthyroid rats (33.00 ± 4.12) g, (80.00 ± 14.28) g; (1.098 ± 0.040) g, (1.430 ± 0.114) g; T 3: (1.052 ± 0.143) nmol/L, T 4:( 93.85 ± 7.92) nmol/L (P<0.001). The distribution tendency of GAP 43 in cerebellun was similarly in experimental pups as compared to age matched controls. In hypothyroid pups, the distribution tendency of GAP 43 in cerebellum was similar to that of age matched controls. The analysis of image shows that the grey values of GAP 43 was higher in hypothyroidism than that of normal pups at postnatal 15th days (171.35 ± 0.69 vs 160.83 ± 4.69, P< 0.001 ), but lower at pastnatal 30th days (149.60 ± 3.94 vs 159.42 ± 6.66, P< 0.01). CONCLUSIONS: Thyroid hormones affect expression of GAP 43 directly or indirectly. By regulating GAP 43, thyroid hormones have an effect on G 0 protein signal transduction system and may lead to brain developmental retardation.
OBJECTIVE: To explore the etiology of pulmonary hypertension with relation to the pulmonary expression of matrix metalloprotease1 (MMP 1). METHODS: The pulmonary hypertension animal models were induced by monocrotaline (MCT), the pulmonary arterial pressure was measured by cathetrization, and the pulmonary MMP 1 mRNA expression was studied by RT PCR. RESULTS: The pulmonary arterial pressure increased significantly in the 3rd week after the induction of MCT and reached the peak in the 4th weak; the pulmonary MMP 1 mRNA expression increased significantly in the 2nd week and then decreased greatly in the 3rd week, and still it was higher than that in the 1st weak. CONCLUSIONS: Changed MMP 1 expression might play a part in the development of pulmonary hypertension. MMP 1 overexpression might play the role of target during the earlier stage of pulmonary arterial remodeling.
OBJECTIVE: To investigate the changes of pulmonary shunt fraction (Qs/Qt), alveolar dead space (V Dalv), gas exchange and respiratory mechanics in the septic acute respiratory distress syndrome (ARDS) and acute lung injury (ALI). METHODS: Ten anaesthetized and ventilated young pigs were given an infusion of endotoxin for an experimental observation of 180 min to induce ARDS/ALI. The mean pulmonary artery pressure (MPAP), cardiac output (CO), respiratory compliance (Crs), end tidal CO2 (ET CO2), and single breath test for CO2 (SBT CO2), PaO2 and PaCO2 were recorded. Cardiac index (CI), Qs/Qt, V Dalv and ET CO2/PaCO2 were calculated. RESULTS: Endotoxin induced ARDS/ALI decreased in CI, Crs, PaO2, ET CO2/PaCO2, and increased in MPAP, Qs/Qt, V Dalv (P<0.05). CONCLUSIONS: Qs/Qt and V Dalv in combination with haemodynamics, respiratory mechanics and arterial blood gases are of great clinical importance in the diagnosis of ARDS/ALI and analysis of pathophysiological events.
OBJECTIVE: To evaluate the therapeutic effect on children with acute idiopathic thrombocytopenic purpura (AITP) by intravenous immunoglobulin (IVIG) or dexmethasone (DEX). METHODS: Fortysix patients aged from 4 months to 14 years with AITP were randomized to receive IVIG or DEX, and we monitored the platelet count (Tc) and observed the side effects after each treatment. RESULTS: There was no difference in the lasting time of Tc≤20×109/L and the time when Tc increased to ≥50×109/L between the treatment of IVIG and DEX (P>0.05). But the percentage of patients with Tc≥50×109/L was higher in the IVIG group Ⅱ (88%) than in the DEX group (50%) after the 5 day treatment (P<0.05). CONCLUSIONS: We may choose IVIG to treat the patients with AITP complicated by severe mucomenbrane and organ bleeding, while we may use DEX if the patients have no complication.
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