Research on the Diagnosis of Smith-Magenis Syndrome / 中山大学学报(医学科学版)

[Objective] We explore the diagnosis of Smith-Magenis syndrome and its clinical features of children,to raise the domestic awareness of this disease.[Methods] In this study,the child received peripheral blood chromosome microarray analysis,blood routine and urine routine,growth hormone provocation test,insulin-like growth factor Ⅰ and insulin-like growth factor binding protein Ⅲ test,cortisol (8a) test,prolactin test,adrenocorticotropic hormone test,thyroid function test,liver and kidney function test,blood biochemistry test,fasting insulin test,2-hour plasma glucose test,the antibodies and antigens test of hepatitis B.The bone age measurement and the pituitary gland MRI were also performed.We use the above figures to diagnose Smith-Magenis syndrome,assess and observe the condition of the child in Smith-Magenis syndrome.[Results] In this case,the chromosomal microarray analysis revealed a deletion of about 3.6Mb fragments in the chr17p11.2 region,including main functional gene RAI1,which was associated with Smith-Magenis syndrome.According to the clinical manifestations and the result of chromosome microarray analysis,the diagnosis of children with Smith-Magenis syndrome was made clear.[Conclusion] Genetic tests are the standard for diagnosing Smith-Magenis syndrome.When children have special facial features combined with multiple system disorders,early genetic examination is conducive to early diagnosis,and can reduce the time and economic cost.

Stanozolol activates the cross-talk of estrogen receptor alpha-insulin-like growth factor-1 receptor-extracellular-signal regulated kinase 1/2 in the growth plate chondrocytes of estrogen-inhibited adolescent rats in vitro / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the effects and the mechanisms of stanozolol (ST) on the proliferation, maturation and differentiation of in vitro cultured growth plate chondrocyte isolated from gonadotropin releasing hormone analogue (GnRHa)-treated adolescent rats, to study if ST mediates the proliferation of chondrocytes via the estrogen receptor alpha (ERalpha), androgen receptor (AR) and/or insulin-like growth factor-1 receptor (IGF-1R) and interactions of the two receptor and IGF-1R receptor signaling pathway, to investigate the mechanism of the biological effects in ST promoting bone growth/maturity at molecular level.</p><p><b>METHOD</b>The rats were weaned at the end of 3 weeks and intramuscular injection of triptorelin of GnRHa preparations, qow x 2 was started. The rats were sacrificed at the end of 7 weeks, and then the tibiae growth plates were taken out with sterile procedure. The chondrocytes were obtained by two-time enzyme digestion method, and the experiments were carried out with the primary chondrocytes. Immunohistochemical staining of proliferating cell nuclear antigen (PCNA) and Western blot analysis were applied.</p><p><b>RESULT</b>The results of PCNA demonstrated that stanozolol enhanced the proliferation of the chondrocytes, time-course studies showed that the proliferation were maximally stimulated by stanozolol after 2 days of incubation and decreased again after longer periods of incubation. The expression of p-ERalpha, p-IGF-1R and p-extracellular-signal regulated kinase 1/2 (ERK1/2) increased with the incubation period of ST treatment, and reached the peak value at a certain time, and then gradually decreased. The expression of p-ERalpha, p-IGF-1R and p-ERK1/2 increased with the elevation of ST concentration, and reached the peak value at 10(-9) - 10(-8) mol/L, then gradually decreased. ST induced-p-ERalpha expression was partially blocked by ERalpha and mitogen-activated protein kinase kinase inhibitors. ST induced-p-IGF-1R expression was partially blocked by ERalpha and IGF-1R inhibitors. ST induced-p-ERK1/2 expression was partially blocked by mitogen-activated protein kinase kinase and IGF-1R inhibitors.</p><p><b>CONCLUSION</b>As an androgen derivation, ST exerts its biological effects of promoting proliferation of the long bone growth plate chondrocytes via activating the classic ERalpha receptor pathway and mitogen-activated protein kinase pathway, and at the same time, by activation of IGF-1R. Both IGF-1R and ERalpha can promote "cross-talk" of two systems' receptor signal through mitogen-activated protein kinase signal pathway.</p>

Clinical investigation on the treatment of HCMV hepatitis in children / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>To investigate the effective therapeutic method of human cytomegalovirus (HCMV) hepatitis in children.</p><p><b>METHODS</b>Twenty-five children with HCMV hepatitis were randomly assigned to a treated group (n=13) or a control group (n=12). Both groups were treated with prednisone, glucurone, luminal and Xiaoyanlidanpian. But the treated group was given ganciclovir (GCV) + intravenous immunoglobulin (IVIG) in addition. Each infant of the two groups was checked for blood routine, liver function and HCMV copy numbers on admission and before discharge. They were seen at the third, sixth and ninth month after discharge. On each visit blood specimens were collected for HCMV copy numbers (fluorescence quantitative PCR, FQ-PCR).</p><p><b>RESULTS</b>The viral load of the treated group decreased significantly. A significant difference in viral copy numbers was found between the two groups on admission, discharge, and third, sixth and ninth month after discharge (P less than 0.001). The number of HCMV DNA copy fell to 10(3) copies/ml on discharge while that of the control group fell to the same level after the third month. The differences between the two groups in the length of hospitalization, time of initial jaundice disappearance and complete disappearance were statistically significant (P less than 0.05). The need for transfusion in the treated group was significantly less than that in the control group (chi-square=4.012, P less than 0.05).</p><p><b>CONCLUSION</b>Combination of GCV with a high dosage of IVIG to treat HCMV active infection could decrease viral load remarkably; The duration of disease, severity of symptoms, degree of anemia and the need for blood transfusion were reduced. No adverse effects related to the combination of GCV with IVIG therapy were observed.</p>

Effect of Stanozolol on Growth of Pubertal Rat Treated with Gonadotropin Releasing Hormone Agonist / 实用儿科临床杂志

Objective To observe the effect of stanozolol(ST) on long bone growth and maturation of pubertal female rats treated with gonadotropin releasing hormone agonist(GnRHa).Methods At 3 weeks of age,42 female Sprague-Dawley rats(brood) were divided into 7 groups(ST dosage groups,as 5 000 ?g/100 g group,200 ?g/100 g group,100 ?g/100 g group,50 ?g/100 g group,25 ?g/100 g group,solvent control group and blank control group)(n=6).Forty-eight female rats were divided into 8 groups(ST therapeutic duration)(n=6).Rats received 2.5 mg/kg im slow-released GnRHa(triptorelin,as 2 d group,3 d group,5 d group,7 d group,10 d group,13 d group,soluent control group and blank control group) which was repeated every 2 weeks for 2 times,3 days after the 2nd GnRHa(D1),ST dosage groups were subcutaneously administrated ST at the various dosage daily(D1-D13).ST therapeutic duration groups were subcutaneously administrated ST at the dosage of 100 ?g/100 g daily for different duration.All the rats were killed on the D14.On the day of sacrifice,body weight,body length and left tibial length were measured,plasma were taken for determining insulin-like growth factor-1(IGF-1),right tibia were fixed,demineralized and processed for paraffin-embedding.Paraff sections were HE stained for growth plate measurements.proliferating cell nuclear antigen(PCNA) on growth plate was analyzed with immunohistochemistry staining and image.Results 1.In the 5 000 ?g/100 g ST dosage group,the weight,Height and tibial length exceeded than those of the other dosage and control groups(Pa

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>

Validation study on the criteria for clinical classification of small for gestational age infants / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the validity of criteria currently used in China for the classification of symmetric small for gestational age infants (SGA) as compared with its definition.</p><p><b>METHODS</b>This study included 417 inpatients diagnosed as SGA in authors' hospital from January 1998 to June 2002. Symmetric SGA was diagnosed by the following three criteria: (1) the Ponderal Index (PI), (2) the crown-heel length-to-head circumference ratio (BL/HC) issued in Chin J Pediatr (1988;26:164 - 165), as well as (3) the SGA definition. The definition criterion was considered as the "gold standard". The sensitivity, specificity, false positive and negative values, positive and negative predictive values, exact agreement ratio, diagnosis index, and Cohen's Kappa value were used to evaluate the validity and agreement of the methods of PI and BL/HC. Receiver Operating Characteristic (ROC) analysis was used to evaluate the validity of the diagnosis.</p><p><b>RESULTS</b>Of 417 SGA infants, 376 (90.17%), 376 (90.17%) and 187 (44.84%) subjects were diagnosed as symmetric type with PI, BL/HC and the definition criteria, respectively. (2) The agreement rate and Kappa value between PI and BL/HC was 80.82% and -0.093 (SEM 0.026), respectively. And the agreement rates between PI or BL/HC and the definition criterion were 49.88% and 50.84%, respectively. As compared with the definition criterion, the PI and BL/HC methods had sensitivities of 91.8% - 96.4%, specificities of 9.3% - 25.9%, positive predictive values of 45.8% - 51.1%, negative predictive values of 72.7% - 82.8%, diagnosis indices of 4.9% - 17.7% and Kappa values of 0.070 - 0.167. (3) The areas under the ROC curves in full-term and preterm infants by PI method were 0.635 (95% CI, 0.573 - 0.697) and 0.698 (95% CI, 0.622 - 0.725), respectively. PI cutoffs at 2.47 in full-term SGA, at 2.43 in preterm SGA, and BL/HC cutoff at 1.43 produced the maximum diagnosis indices that were 24.7%, 39.6% and 33.7%, respectively. When the PI at 2.50 (full-term), PI at 2.31 (preterm) and BL/HC values at 1.46, the sensitivity closed mostly to the specificity. The sensitivities and specificities in full-term and preterm infants were 59.4% and 59.3%, 65.3% and 65.5%, and 66.3% and 65.5%, respectively.</p><p><b>CONCLUSION</b>In the classification of SGA, the results showed a poor agreement between PI or BL/HC and the definition criterion. The results suggested that the current cutoffs of PI and BL/HC might not be appropriate for the diagnosis of symmetric SGA. Low AUC suggested that PI and BL/HC could not give a valid diagnosis at any cutoffs.</p>

Effect of recombinant human growth hormone on final adult height in children with growth hormone deficiency / 中华内分泌代谢杂志

0.05).Conclusion GH improves FAH of children with GHD.Height at the initiation of puberty is the most significant determining factor for the long-term efficacy.Hence,it is important that the diagnosis should be made and treatment be initiated as early as possible to afford children with GHD the opportunity to make up much of their height deficit before puberty.Adequate dosage of GH should be used for the children taking initial treatment at puberty to attain satisfactory FAH.