Intermittent abdominal pain and abdominal distension with fatigue and massive ascites in a 13-year-old boy / 中国当代儿科杂志

A 13-year-old boy was admitted due to intermittent abdominal pain for one year with massive ascites. The purified protein derivative (PPD) test after admission yielded positive results (3+), and ascites examination revealed a yellow color. There were 634×10 nucleated cells/L in the ascites, among which 82.2% were mononuclear cells and 17.8% were multinuclear cells. The Rivalta test yielded a positive result and revealed that the ascites was exudate, suggesting the possibility of tuberculosis infection. The symptoms were not relieved after isoniazid-rifampicin anti-tuberculosis therapy and symptomatic/supportive treatment. Plain CT scan of the abdomen and contrast-enhanced CT showed that the lesion was located at the left wall of the transverse colon, with uneven thickening of the peritoneum and heterogeneous enhancement. Colonoscopic biopsy found signet ring cells in the mucosa and immunohistochemical examination revealed Syn (-), CgA (-), CD56 (-), CK(pan) (+), CDX-2 (+), CK20 (+), Muc-1 (+) and Ki-67 (+, about 80%). PET-CT scan showed an abnormal increase in fluorodeoxyglucose metabolism, which was shown as a mass near the splenic flexure of the transverse colon, with a maximum standard uptake value of 9.9, indicating a highly active lesion; this was consistent with the metabolic changes of malignant tumors. Surgical operation was performed and intraoperative exploration revealed massive ascites, a hard mass located at the hepatic flexure of the colon, involvement of the serous coat and surrounding tissues, stenosis of the bowel, lymph node enlargement around the superior mesenteric vessels and the gastrocolic ligament, and multiple metastatic nodules in the greater omentum, the abdominal wall and the pelvic cavity. The results of postoperative pathology were consistent with those of colonoscopic biopsy, i.e., poorly differentiated mucinous adenocarcinoma of the transverse colon and partly signet-ring cell carcinoma. Therefore, the boy was diagnosed with colon signet-ring cell carcinoma with peritoneal metastasis and tuberculosis infection. When a child is suffering from intractable abdominal pain, unexplained intestinal obstruction and massive intractable ascites, the possibility of malignancy should be considered. Abdominal plain CT scan as well as contrast-enhanced CT scan should be performed as early as possible, and enteroscopy should be performed when necessary.

Clinical efficacy of pulmonary surfactant combined with budesonide for preventing bronchopulmonary dysplasia in very low birth weight infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the clinical efficacy of intratracheal instillation of pulmonary surfactant (PS) combined with budesonide for preventing bronchopulmonary dysplasia (BPD) in very low birth weight (VLBW) infants.</p><p><b>METHODS</b>Thirty VLBW infants with gestational age <32 weeks who developed neonatal respiratory distress syndrome (NRDS) (grade III-IV) suffering from intrauterine infection were randomly assigned into a PS + budesonide group and a PS alone group. The changes were compared between the two groups in arterial blood gas indexes, oxygenation index (OI), duration of mechanical ventilation, duration of oxygen supplementation, incidence of BPD, mortality rate at 36 weeks corrected gestational age and incidences of other complications except BPD.</p><p><b>RESULTS</b>Compared with the PS alone group, the PS+budesonide group had a lower incidence of BPD, shorter duration of mechanical ventilation and oxygen supplementation (P<0.05). On the 2nd to 6th day after treatment, the PS+budesonide group had higher pH value of arterial blood gas and OI and lower carbon dioxide partial pressure compared with the PS alone group (P<0.05). There were no significant differences in the mortality rate at 36 weeks corrected gestational age and the incidences of other complications except BPD between the two groups (P>0.05).</p><p><b>CONCLUSIONS</b>Intratracheal instillation of PS combined with budesonide can effectively reduce the incidence of BPD in VLBW premature infants with severe NRDS.</p>

Casticin induces caspase-mediated apoptosis via activation of mitochondrial pathway and upregulation of DR5 in human lung cancer cells

OBJECTIVE@#To assess if casticin induces caspase-mediated apoptosis via activation of mitochondrial pathway and upregulation of DR5 in human lung cancer cells.@*METHODS@#Human non-small-cell lung carcinoma cell lines H460, A549 and H157 were cultured in vitro. The cytotoxic activities were determined using MTT assay. The apoptotic cells death was examined by flow cytometry using PI staining and DNA agarose gel electrophoresis. The activities of caspase-3, -8 and -9 were measured via ELISA. Cellular fractionation was determined by flow cytometry to assess release of cytochrome c and the mitochondrial transmembrane potential. Bcl-2/Bcl-XL/XIAP/Bid/DR5 and DR4 proteins were analyzed using western blot.@*RESULTS@#The concentrations required for a 50% decrease in cell growth (IC(50)) ranged from 1.8 to 3.2 μM. Casticin induced rapid apoptosis and triggered a series of effects associated with apoptosis by way of mitochondrial pathway, including the depolarization of the mitochondrial membrane, release of cytochrome c from mitochondria, activation of procaspase-9 and -3, and increase of DNA fragments. Moreover, the pan caspase inhibitor zVAD-FMK and the caspase-3 inhibitor zDEVD-FMK suppressed casticin-induced apoptosis. In addition, casticin induced XIAP and Bcl-XL down-regulation, Bax upregulation and Bid clearage. In H157 cell line, casticin increased expression of DR5 at protein levels but not affect the expression of DR4. The pretreatment with DR5/Fc chimera protein effectively attenuated casticin-induced apoptosis in H157 cells. No correlation was found between cell sensitivity to casticin and that to p53 status, suggesting that casticin induce a p53-independent apoptosis.@*CONCLUSIONS@#Our results demonstrate that casticin induces caspase-mediated apoptosis via activation of mitochondrial pathway and upregulation of DR5 in human lung cancer cells.

Preliminary functional analysis of a novel mutation in GATA-4 gene in Chinese patients with congenital cardiac septal defects / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform the functional analysis of a novel H436Y mutation of GATA-4 gene identified in Han Chinese patients with congenital cardiac septal defects.</p><p><b>METHODS</b>Using bioinformatics to predict if the H436Y mutation in the GATA-4 gene affects its protein function. H436Y mutation in the GATA-4 gene was generated by Quick Change Lightning site-directed mutagenesis kit and verified by DNA sequencing. GATA-4-wt or GATA-4-mut DNA was cotransfected into Hela cells with DNA for the luciferase reporter gene atrial natriuretic factor (ANF), and luciferase activity was measured by an LKB luminometer 48 h after transient transfection.</p><p><b>RESULTS</b>Alignment of the GATA-4 amino acid sequence indicated that the histidine residue at position 436 was conserved, and H436Y mutation in the GATA-4 gene is expected to affect its protein function. The H436Y mutation significantly reduced the transcriptional activation of downstream reporter ANF when compared to wild-type GATA-4 (P<0.01).</p><p><b>CONCLUSION</b>The mutation c.1306C-->T of the GATA-4 gene impaired the activation of the downstream target, suggesting that the H436Y mutation in the C-terminal region of the GATA-4 gene might prevent its biological function.</p>

Association between GATA-4 mutations and congenital cardiac septal defects in Han Chinese patients / 中华心血管病杂志

<p><b>OBJECTIVE</b>To elucidate the association between GATA-4 gene mutations and congenital cardiac septal defects in Han Chinese patients.</p><p><b>METHODS</b>Fifty Han Chinese patients with congenital cardiac septal defects and 100 normal subjects with the same ethnical background were studied. Total six exons and the intron-exon boundaries of GATA-4 were amplified by the polymerase chain reaction. The polymerase chain reaction products were purified and directly sequenced with automatic sequencer.</p><p><b>RESULTS</b>Two novel heterozygous mutations were discovered in the GATA-4 gene of patients with congenital cardiac septal defects, His28Tyr in exon 2 and His436Tyr in exon 7 respectively, which were absent in the control population and not reported in the SNP database (http://www.ncbi.nlm.nih.gov/SNP).</p><p><b>CONCLUSION</b>Our finding suggests that the mutations in the transcription factor GATA-4 may be related to congenital cardiac septal defects in Han Chinese patients.</p>