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Objective To evaluate the frequency of mutations that occur in PHEX,FGF - 23 and DMP - I genes associated with familial hypophosphatemic vitamin D resistant rickets among 6 patients from 4 families in China. Methods The peripheral blood samples from 4 families were collected and other 10 persons from different families were selected as normal controls,and then the total gene DNA was extracted from the whole blood. Using polymerase chain reaction(PCR)amplication,sequences of the exons and flanking zones in PHEX,FGF - 23 and DMP - I genes were sequenced by direct DNA sequencing and TA cloning,and then the mutations found were analyzed. Results In exon 6 of DMP - I gene,c1218 C ﹥ T and c1230 G ﹥ A mutations were detected in lineage 1,as same sense mutation (propositus and its sister:homozygous mutation;mother:heterozygous mutation);c1333 - 1334 GC ﹥ TT mutation,as missense mutation,was found in exon 12 of PHEX gene on the propositus of lineage 2,determined as heterozygous muta-tion,but the same mutation was not found from their parents. In exon 3 of FGF - 23 gene,c716 C ﹥ T,p. T239M hetero-zygous mutation was found on the propositus and its mother. In exon 6 of the DMP - I gene,c205 A ﹥ T homozygous mutation was detected in lineage 3. In lineage 3,c716 C ﹥ T mutation of the FGF - 23 gene was detected,and the pro-positus and their father had the same mutation. No disease causing mutations of the PHEX,FGF - 23 and DMP - I genes were detected in the family members of lineage 1,3 and 4. Conclusions The mutation c1333 - 1334 GC ﹥ TT detected in exon 12 of PHEX gene might be the cause of disease for the propositus of lineage 2,as missense mutation, which needs further verification;c716 C ﹥ T,p. T239M mutation of the FGF - 23 gene detected in lineage 2 and 3 might not be the causes of the hypophosphatemic rickets and abnormal phenotype.
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Objectives To study the molecular genetics of Niemann-Pick's disease (NPD), and its implication in the diagnosis of NPD. Methods The clinical data and blood samples of three unrelated families were collected. The genomic DNA was extracted from peripheral blood. The six coding exons and their lfanking intronic sequences of SMPD1 gene in all members of three pedigrees were ampliifed by polymerase chain reaction (PCR). The SMPD1 gene sequencing results were compared with the normal sequence from Genbank to identify possible causative mutations. The ampliifcation products of exons where mutations were located were cloned into TA vector for further conifrmation. Results Family 1 proband had homozygous T107C mutation and the parents had heterozygous T107C mutation. The homozygous delete mutation (c.108-113delGCTGGC) was detected and conifrmed by TA cloning in all members of family 2 and 3. The 20 normal control members did not have this delete mutation. Conclusions The genetic basis of NPD in the proband of family 1 is the homozygous T107C mutation in SMPD1 gene, while parents in family 1 are carriers of recessive T107C mutation. The homozygous mutation c.108-113delGCTGGC exists in SMPD1 gene in all members of the family 2 and 3. This delete mutation is considered to be genetic polymorphism.
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Objective To detect the expression of serum creatinine (SCr),urine output,and urinary chalone C (CysC) in children with acute kidney injury (AKI) and to explore its clinical significance.Methods A total of 34 children infected by H1N1 or EV71 virus were enrolled in this study.Thirty-four cases of children were divided into AKI group(12 cases) and non-AKI group(22 cases).The level of SCr,urine output and CysC in two groups was compared on admission and 1,3 d after admission.Results The incidence rate of AKI in virus infected children was 35.3％ (12/34).There was no significant difference in SCr and urine output between two groups on admission (P ＞ 0.05).But the CysC in AKI group was higher than that in non-AKI group [(1.64 ± 0.23) mg/L vs.(0.85 ± 0.16) mg/L] (P ＜ 0.05).There was no significant difference of SCr,urine output and CysC in non-AKI group (P ＞ 0.05),but the level of SCr and CysC in AKI group after admission was significantly higher than that on admission [(38.25 ±7.18),(40.54 ± 7.62) μ mol/L vs.(25.26 ± 5.42) μ mol/L; (2.04 ± 0.33),(2.56 ± 0.41) mg/L vs.(1.64 ± 0.23) mg/L] (P ＜ 0.05 or ＜ 0.01),and urine output was significantly lower[(0.37 ± 0.12),(0.41 ± 0.14) ml/(kg·h) vs.(0.54 ±0.20) ml/ (kg·h)](P＜ 0.05).There was no significant difference in AKI group in SCr and urine between 1 day and 3 day after admission,while the CysC was statistically significant (P ＜ 0.01).Correlation analysis showed that the expression of serum CysC and SCr had positively significant correlation (r =0.412,P ＜0.05),and the urine volume had significantly negative correlation (r =-0.364,P ＜ 0.05).Conclusions High incidence of AKI occurs in children of virus infection.CysC value in early diagnosis of AKI is significantly superior to SCr and urine volume,and is expected to be an index in early prevention and treatment of children with AKI.
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Objective To investigate the effect ofvalproate acid(VAP) on the activity ofneutrophils in children with epilepsy and its clinical significance.Methods A total of 34 cases of children with epilepsy(epilepsy group) were enrolled in this study.Another 30 healthy children were as control group.The activation rate of neutrophils was detected by flow cytometry.The levels of serum high sensitivity-C reactive protein(hs-CRP) were measured by latex enhanced immunoturbidimetric analysis.The levels of serum tumor necrosis factor-alpha (TNF-α) and interleukin-6 (IL-6) were measured by enzyme linked immunosorbent assay analysis.Results The activation rate of neutrophils had no significant difference between epilepsy group before treatment and control group (P ＞ 0.05).The activation rate of neutrophils after treatment of 6,12 months in epilepsy group was higher than that in control group [(12.36 ± 4.72)％,(15.87 ± 5.68)％ vs.(5.32 ± 1.41)％,P ＜ 0.01].The activation rate of neutrophils after treatment of 12 months was higher than that after treatment of 6 months in epilepsy group (P ＜ 0.05).There was no significant difference in the levels of serum hs-CRP,TNF-α and IL-6 between epilepsy group before treatment and control group (P ＞ 0.05).The levels of serum hs-CRP,TNF-α and IL-6 after treatment of 6,12 months in epilepsy group were higher than those in control group [(3.64 ± 1.22),(6.96 ± 2.64) mg/L vs.(1.46 ± 0.27) mg/L,(74.72 ± 22.58),(96.67 ± 30.25) ng/L vs.(31.72 ± 12.16) ng/L,(32.59 ± 8.45),(46.74 ± 12.16) ng/L vs.(15.36 ± 4.45)ng/L,P ＜ 0.01],and those after treatment of 12 months were higher than those after treatment of 6 months (P ＜ 0.05).The activation rate of neutrophils was positively related with the serum levels of hs-CRP,TNF-αand IL-6 (r =0.328,0.402,0.344,P ＜ 0.05).Conclusions The high activation rate of neutrophils is found in children with epilepsy.The abnormal activation of neutrophils makes the body undergo high oxidative stress status.
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<p><b>OBJECTIVE</b>To evaluate the protective effect of amlodipine against contrast agent-induced renal injury in elderly patients with coronary heart disease.</p><p><b>METHODS</b>A total of 189 elderly patients (>60 years) with coronary heart disease undergoing coronary artery angiography were randomly assigned into amlodipine group and control group to receive amlodipine or placebo, respectively, before and after administration of the contrast agent. At 24 h, 48 h and 5 days after contrast agent administration, the parameters of renal function were measured including serum cystatin C, urea nitrogen, creatinine, creatinine clearance rate, urine β2-microglobulin, and urine N-acetyl-β-glucosaminidase.</p><p><b>RESULTS</b>In both groups, the contrast agents obviously affected the renal functions of the patients (P<0.05). At 24 h after contrast administration, the levels of serum cystatin C, urine β2-microglobulin and urine NAG were significantly lower in amlodipine group than in the control group, but the other functional parameters showed no significant difference. At 48 h after contrast administration, the glomerular and tubular functional parameters were all superior in amlodipine group (P<0.05). At 5 days, the two groups showed significant differences in such glomerular and tubular functional parameters as urea nitrogen, creatinine, creatinine clearance rate, urine β2-microglobulin, and urine NAG (P<0.05), but not in serum cystatin C level. The incidence of contrast agent-induced nephropathy was significantly lower in amlodipine group than in the control group (5/95 vs 10/94, P<0.05).</p><p><b>CONCLUSIONS</b>Amlodipine offers protection against radiographic contrast agent-induced renal injury in elderly patients with coronary heart disease.</p>
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Amlodipine , Pharmacology , Therapeutic Uses , Contrast Media , Pharmacology , Coronary Angiography , Coronary Disease , Diagnostic Imaging , Kidney Diseases , Drug Therapy , Kidney Function TestsABSTRACT
Objective To investigate the regulatory effects of bombesin on the gastrointestinal morphology and proliferation of mucosa cells in neonatal rabbits. Methods Twenty four neonatal rabbits were divided into big,small dose experimental group and control group. The gastrointestinal morphology in neonatal rabbits was observed by using Video Image Digtal Analysis System and electron microscopy, and the proliferative rate of gastrointestinal epithelium cells was detected by using immunohistochemical assay. Results The villous height of duodenum were (520?76),(513?31),(379?44) ?m in three groups respectively. That in experimental group with big or small dose were significantly higher than that in control group( P