Clinical significance of serum fibrosis markers in diagnosis of infantile hepatitis syndrome / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the correlation between four serum fibrosis markers and liver function in patients with infantile hepatitis syndrome (IHS), and to explore the clinical significance of these markers in the diagnosis of IHS and the assessment of disease severity.</p><p><b>METHODS</b>A retrospective study was performed on 60 patients with IHS who were divided into hepatic fibrosis and normal groups based on ultrasound diagnosis. Levels of four liver fibrosis markers, i.e., hyaluronic acid (HA), type III procollagen (PC-III), type IV collagen (IV.C), and laminin (LN), were compared between the two groups, and the correlation between these markers and liver function was analyzed.</p><p><b>RESULTS</b>Levels of liver function markers (alanine aminotransferase (ALT), glutamyl transpeptidase (GGT), total bilirubin (TBil), direct bilirubin (DBil), indirect bilirubin (IBil), and total bile acid (TBA)) in the hepatic fibrosis group were significantly higher than those in the normal group (P<0.05). Levels of HA and IV.C in the hepatic fibrosis group were significantly higher compared with those in the normal group (P<0.05). Furthermore, HA, IV.C, and PC-III levels were positively correlated with those of ALT, TBil, GGT, DBil, IBil, and TBA (r=0.25-0.49), and the strongest correlation existed between HA/IV.C and ALT/jaundice markers.</p><p><b>CONCLUSIONS</b>Assay measuring serum fibrosis markers (HA, IV.C, and PC-III) in combination with liver function tests and ultrasound examination has an important clinical value in the early diagnosis of IHS and evaluation of disease severity.</p>

Clinical diagnosis and mutation analysis of a Chinese boy with Phelan-McDermid syndrome / 中华实用儿科临床杂志

Objective To explore the clinical features and genetic diagnosis analysis of a Chinese boy with unexplained overgrowth and developmental delay.Methods The clinical symptoms of the boy were described,and performed routine G-banding was performed to analyze the karyotype of the patient,and multiplex ligation-dependent probe amplification (MLPA) was used to detect the copy number variation (CNVs) in the 22q13 region,and array-comparative genomic hybridization(array CGH) was used to detect all chromosome abnormally,then fluorescence in situ hybridization(FISH) confirmed the result.Results 1.The boy was 1.5 years old and complained about accelerated growth,global developmental delay,severely delayed speech ability and peculiar facial features.2.Routine karyotype analysis showed a karyotype of 46,XY.MLPA found terminal deletion with breakpoints within the SHANK3 gene and ACR gene,RABL2B gene,and array CGH finely mapped the deletion on 22q13,furthermore FISH confirmed the micro deletion.Conclusions Combining the clinical manifestations and effective examination of 22q13 deletion,the boy got a reliable diagnosis of Phelan-McDermid syndrome;as array CGH can be useful to screen CNVs of all chromosome,so MLPA should be applied to some special CNVs.

Synergistic effects from substrate stiffness and cytokine TGF-β1 on phenotypic transformation of hepatocytes / 医用生物力学

Objective To explore the synergistic effects of substrate stiffness and cytokine TGF-β1 on phenotypic transformation of hepatocytes by establishing an in vitro culture model with the substrate stiffness that is relevant to hepatic cells physiologically and pathologically. Methods Immunofluorescence and Western blotting were adopted to observe the morphological adjustment, motion characteristics, cytoskeleton arrangement of hepatocytes on polyacrylamide substrates with different stiffness, as well as the changes in expression of integrin and phenotypic markers E-cadherin, albumin and alpha-smooth muscle actin (α-SMA). Image analysis software was also used for quantitative study on the obtained data. Results On the 3.6 kPa substrates, the scattered single cells were actively deformed and relocated, but the bulk cell population had little change in polarization and microfilament organization. Muscle actin was assembled as cortical ring in cell periphery. There was more abundant expression of E-cadherin and albumin, but less expression of integrin and α-SMA in TGF-β1 treated group as compared to the control group. On the 30 kPa substrates, the motion and deformation of cells were not so active, and expression of both E-cadherin and albumin in TGF-β1 treated group was decreased, while that of α-SMA was increased as compared to the control group. For 30 kPa and 3.6 kPa control groups and 30 kPa and 3.6 kPa TGF-β1 treated groups, expression of both E-cadherin and albumin was reduced (P<0.05), but that of alpha-SMA was increased (P<0.05), while no significant differences were found in both 10 kPa control group and TGF-β1 treated group, as well as in 30 kPa and 3.6 kPa control groups and TGF-β1 treated groups. Conclusions The increase of substrate stiffness can induce transformation of hepatocyte phenotype and promote the influence of TGF-beta 1 on behavior of hepatocyte metabolism.

Copy-number variations of SHANK3 and related clinical phenotypes in children with autism / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using multiplex ligation-dependent probe amplification (MLPA) and the phenotypes in children with autism and to further explore the clinical application of MLPA to make an etiological diagnosis of Autism.</p><p><b>METHODS</b>The diagnosed of autism was made according to the criteria of the ICD-10 and DSM-IV, with typical cluster of symptoms comprise social disability, communication impairments and repetitious behaviors. MLPA KIT P343-C1 AUTISM-1 was used to detect and describe the incidence of CNVs in these three domains.</p><p><b>RESULTS</b>Among 109 cases collected from 102 autistic pedigrees, 2 individuals had SHANK3 microdeletion, accounting for approximately 2% (2/109) of cases, suggesting the proportion of SHANK3 microdeletion might contribute to typical autism. The phenotypic traits of patients with SHANK3 microdeletions showed homogenicity in severe core symptoms and mental retardation.</p><p><b>CONCLUSIONS</b>SHANK3 microdeletion is an important genetics component for autism, which may explain 2% typical autism cases. SHANK3 microdeletion might explain autistic core symptoms and mental retardation. MLPA is a sensitive and a high throughput technique to detect CNVs in specific DNA segments, which is beneficial for further investigation of etiology of autism.</p>

Effects of substrate stiffness on the migration of hepatic and hepatoma carcinoma cells / 医用生物力学

Objective To investigate the cause of tumor cell migration by comparing the effect of substrate stiffness on hepatic and hepatoma carcinoma cell migration so as to understand the invasive characteristics of tumor cells. Methods Immunofluorescence staining, morphological analysis and transwell were employed to observe the morphological characteristics of HCCLM3 and L02 cells on different substrates and test their migration characteristics with the quantitative analysis. Results (1) The migration rate and net translocation of HCCLM3 and L02 cells on 4 kPa substrate was higher than those both on 0.5 kPa(most soft one) and on glass (the hardest one) substrates, and L02 cells also displayed higher migration efficiency than HCCLM3 cells on such substrates. (2) The mean squared displacement of HCCLM3 and L02 cells on different substrates showed consistent tendency, and the directional persistence of L02 cells on the softer substrate was significantly higher than that of HCCLM3 cells. (3) In 0.5 and 1 mg/mL three dimensional collagen environment, the number of invasive cells of HCCLM3 was remarkably more than that of L02 cells. After adding MMPs inhibitor GM6001 (40 μg/mL), the number of invasive cells was notably increased in HCCLM3 cells, but notably decreased in L02 cells. Conclusions (1) In two dimensional comparatively soft environment, L02 cells displayed an efficient migration due to its higher directional persistence. (2) In three-dimensional collagen environment, the invasion efficiency of HCCLM3 cells was significantly higher due to the various modes of migration adaptation to the microenvironment.

Picture perception in Chinese dyslexic children: an eye-movement study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Currently, whether or not there is visuospatial impairments in Chinese dyslexic children is still a matter of discussion. The relatively recent application of an eye-tracking paradigm may offer an opportunity to address this issue. In China, in comparison with reading studies, there have not been nearly as many eye movement studies dealing with nonreading tasks such as picture identification and whether Chinese children with dyslexia have a picture processing deficit is not clear. The purposes of the present study were to determine whether or not there is visuospatial impairments in Chinese dyslexic children. Moreover, we attempted to discuss whether or not the abnormal eye movement pattern that dyslexic subjects show during reading of text appropriate for their age is a consequence of their linguistic difficulties.</p><p><b>METHODS</b>An eye-link II High-Speed Eye Tracker was used to track the series of eye-movement of 19 Chinese dyslexic children and 19 Chinese normal children. All of the subjects were presented with three pictures for this eye-tracking task and 6 relative eye-movement parameters, first fixation duration, average fixation duration, average saccade amplitude, mean saccade distance, fixation frequency and saccade frequency were recorded for analysis.</p><p><b>RESULTS</b>Analyzing the relative parameter among three pictures, except for the fixation frequency and the saccade frequency, other eye-movement parameters were significantly different among the three pictures (P<0.05). Among the three pictures, the first fixation duration was longer, and the average fixation duration, the average saccade amplitude and the mean saccade distance were shorter from picture 2 to picture 3. Comparing all eye-movement parameter between the two groups, the scores of average saccade amplitude (P=0.017) and the mean saccade distance (P=0.02) were less in the dyslexia group than in the normal group (P<0.05), other parameters were the same in the two different groups (P>0.05).</p><p><b>CONCLUSIONS</b>The characteristics of the pictures can significantly influence the visuospatial cognitive processing capability of the Chinese children. There is a detectable disability for the Chinese dyslexic children in the visuospatial cognitive processing: their saccade amplitude and mean saccade distance are shorter, which may be interpreted as specific for their reading disability.</p>

Eye movements characteristics of Chinese dyslexic children in picture searching / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Reading Chinese, a kind of ideogram, relies more on visual cognition. The visuospatial cognitive deficit of Chinese dyslexia is an interesting topic that has received much attention. The purpose of current research was to explore the visuopatial cognitive characteristics of Chinese dyslexic children by studying their eye movements via a picture searching test.</p><p><b>METHODS</b>According to the diagnostic criteria defined by ICD-10, twenty-eight dyslexic children (mean age (10.12 +/- 1.42) years) were enrolled from the Clinic of Children Behavioral Disorder in the third affiliated hospital of Sun Yat-sen University. And 28 normally reading children (mean age (10.06 +/- 1.29) years), 1:1 matched by age, sex, grade and family condition were chosen from an elementary school in Guangzhou as a control group. Four groups of pictures (cock, accident, canyon, meditate) from Picture Vocabulary Test were chosen as eye movement experiment targets. All the subjects carried out the picture searching task and their eye movement data were recorded by an Eyelink II High-Speed Eye Tracker. The duration time, average fixation duration, average saccade amplitude, fixation counts and saccade counts were compared between the two groups of children.</p><p><b>RESULTS</b>The dyslexic children had longer total fixation duration and average fixation duration (F = 7.711, P < 0.01; F = 4.520, P < 0.05), more fixation counts and saccade counts (F = 7.498, P < 0.01; F = 11.040, P < 0.01), and a smaller average saccade amplitude (F = 29.743, P < 0.01) compared with controls. But their performance in the picture vocabulary test was the same as those of the control group. The eye movement indexes were affected by the difficulty of the pictures and words, all eye movement indexes, except saccade amplitude, had a significant difference within groups (P < 0.05).</p><p><b>CONCLUSIONS</b>Chinese dyslexic children have abnormal eye movements in picture searching, applying slow fixations, more fixations and small and frequent saccades. Their abnormal eye movement mode reflects the poor ability and strategy of visual information processing.</p>

Effect of human cytomegalovirus on hematopoietic system / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the mechanism and the suppression effect of human cytomegalovirus (HCMV) on hematopoietic system.</p><p><b>METHODS</b>Semi-solid culture system was used to observe the effect of HCMV AD169 strain on colony forming unit granulocyte/macrophage (CFU-GM), CFU-erythroid (CFU-E), CFU-multipotent (CFU-Mix) and CFU-megakaryocyte (CFU-MK) growth. The techniques of in situ polymerase chain reaction (IS-PCR) and polymerase chain reaction (PCR) were used to demonstrate the existence of HCMV DNA in the colony cells of cultured CFU-GM, CFU-Mix, CFU-MK and CFU-E, respectively. The immediate early antigen (IEA) mRNA in CFU-MK and late antigen (LA) mRNA in CFU-E were detected by reverse transcriptase-polymerase chain reaction (RT-PCR). HCMV early protein P52 was detected with immunohistochemical technique.</p><p><b>RESULTS</b>HCMV AD169 suppressed the differentiation and proliferation of CFU-GM, CFU-E, CFU-Mix and CFU-MK in vitro significantly (P < 0.05). The suppression was dose-dependent. HCMV DNA was successfully detected in CFU-GM, CFU-Mix, CFU-MK colony cells from viral infection groups by IS-PCR, and was detected in CFU-E by PCR, while it was negative in blank control or mock control groups. CFU-MK colony cells expressed HCMV IEA mRNA with the size of 340 bp in virus infection groups of 10(3) plague forming unit (PFU), 10(4) PFU and 10(5) PFU, respectively. The HCMV LA mRNA was detected by RT-PCR and was 263 bp long in positive control group of HCMV-infected human embryonic fibroblasts. The expression of HCMV LA mRNA in CFU-E was negative. The early protein P52 of HCMV in 10(4) PFU group was also identified by immunohistochemical staining.</p><p><b>CONCLUSION</b>HCMV AD169 strains inhibited the differentiation and proliferation of CFU-GM, CFU-E, CFU-Mix and CFU-MK by the infection of the hematopoietic progenitors. HCMV might cause the suppression of hematopoiesis by direct infection, which is thought to be one of the reasons of HCMV infection associated with thrombocytopenia, neutropenia and anemia.</p>