Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.</p><p><b>METHODS</b>The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.</p><p><b>RESULTS</b>As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.05). There was also a significant difference in the frequency of T allele between the two groups (P<0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype , TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC: OR=4.05, 95%CI: 1.04-15.69; TT/CC: OR=30.60, 95%CI: 6.46-144.85; T/C: OR=4.64, 95%CI: 2.54-8.48).</p><p><b>CONCLUSIONS</b>SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.</p>

Relationship between serum erythropoietin levels and brain injury in preterm infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the relationship between the levels of erythropoietin (EPO) in serum and brain injury in preterm infants.</p><p><b>METHODS</b>Three hundred and four preterm infants (gestational age: 28-34 weeks) born between October 2014 and September 2015 were enrolled in this study. Brain injury was diagnosed using cerebral ultrasound and MRI. The levels of EPO, S100 protein, neuron-specific enolase (NSE) and myelin basic protein (MBP) in serum were detected using ELISA. To compare the incidence of brain injury in different serum EPO levels in preterm infants, and the relationship between brain injury and serum EPO levels was analyzed.</p><p><b>RESULTS</b>The incidence rate of brain injury in preterm infants was 41.1% (125/304). The incidence rate of brain injury in the low EPO level group was significantly higher than that in the middle-high EPO level groups (P<0.01). The serum levels of S100 protein, NSE, and MBP in the brain injury groups were significantly higher than in the control group (P<0.01). The serum EPO levels were negatively correlated with serum S100 protein concentration and NSE levels (P<0.05). According to the multiple logistic regression analysis, low gestational age, low birth weight, asphyxia, prolonged mechanical ventilation, anemia and low serum EPO levels were the risk factor for brain injury in preterm infants.</p><p><b>CONCLUSIONS</b>There is a higher incidence rate of brain injury in preterm infants with lower serum EPO levels. The serum EPO levels may be correlated with brain injury in preterm infants.</p>

Early multi-disciplinary intervention reduces neurological disability in premature infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>This study aimed to evaluate the effectiveness of multi-disciplinary treatment approaches in reducing neurological disabilities in premature infants.</p><p><b>METHODS</b>A total of 117 infants who were born premature in our hospital between March 2008 and February 2010 but had no congenital malformations and no severe neonatal complications, were enrolled in this study. They were randomly allocated to a multi-disciplinary treatment group (n=63) and a control group (n=54). While patients in the control group underwent an early conventional treatment, those in the multi-disciplinary treatment group were subjected to regular development monitoring, neurological examination and screening for brain injury, neuro-nutrition and neurodevelopment therapies, and rehabilitation training.</p><p><b>RESULTS</b>The incidence rates of abnormalities in posture, reflex, sleep, muscle tone and EEG were significantly lower in the multi-disciplinary treatment group than in the control froup (P<0.05) at corrected postnatal ages of 6-12 months. At corrected postnatal ages of 6, 12, 18 and 24 months, both mental development index (MDI) and psychomotor development index (PDI) scores were significantly higher in the multi-disciplinary treatment group than in the control group (P<0.05). At corrected postnatal age of 3 years, incidence rates of cerebral palsy, language barrier, abnormal muscle tone and hearing impairment were significantly lower in the multi-disciplinary treatment group than in the control group (P<0.05).</p><p><b>CONCLUSIONS</b>Early multi-disciplinary intervention approaches may significantly improve mental and motor developments and reduce the incidence of cerebral palsy-associated neurological disabilities in premature infants.</p>

Effects of environmental enrichment on the repair and proliferation of neurons in neonatal rats with hypoxic-ischemic brain damage / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effects of environmental enrichment on neuron proliferation, learning and memory ability and motor ability in neonatal rats with hypoxic-ischemic brain damage (HIBD).</p><p><b>METHODS</b>One hundred and eight 7-day-old Sprague-Dawley rats were randomly divided into three groups: sham operation (CON group), HIBD and intervention group. HIBD model was prepared according to the classic Rice-Vannucci method. Environmental enrichment was administered for the rats in the intervention group after HIBD inducement. Behavioral tests (Water maze test, Suspension test and Slope test) were performed and the number of neural cells in the left hippocampus was examined 7, 14 and 28 days after intervention.</p><p><b>RESULTS</b>The pyramid cells in the hippocampus CA1 area in the HIBD group were significantly less than in the CON group at 7, 14 and 28 days (P<0.05). The number of pyramid cells in the hippocampus CA1 area in the intervention group was significantly higher than in the HIBD group (P<0.01) at 7, 14 and 28 days. The hidden platform escape latency period (EL) in the Water maze test was significantly more prolonged and the cross-platform number within 2 minutes was significantly less in the HIBD and the intervention groups than in the CON group at all observed time points (P<0.01). The EL was significantly shorter and the cross-platform number within 2 minutes was significantly higher in the intervention group than in the HIBD group at all observed time points (P<0.01). The maintain time and score in the Suspension test were significantly lower and the time in the Slope test was significantly more prolonged in the HIBD and intervention groups than in the CON group at 7, 14 and 28 days (P<0.01). An increased maintain time and score and a decreased time in the Slope test were found in the intervention group compared with the HIBD group at 14 and 28 days (P<0.01).</p><p><b>CONCLUSIONS</b>Environmental enrichment can improve motor function, learning and memory ability, and promote the repair and proliferation of neurons in neonatal rats with HIBD.</p>

Curative effects and safety of deferasirox in treatment of iron overload in children with β-thalassemia major / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the effectiveness and safety of deferasirox (DFX) in the treatment of iron overload in children with β-thalassemia major.</p><p><b>METHODS</b>Twenty-four β-thalassemia major children with iron overload who received regular blood transfusion were randomly enrolled. The serum feritin (SF) levels were measured in the patients after different doses of DFX treatment. The DFX treatment-related adverse events were observed. The values of cardiac MRI T2* and liver MRI T2* were compared between the patients receiving DFX treatment for 5 years and the patients treated with deferoxamine and deferiprone.</p><p><b>RESULTS</b>The patients with iron overload did not respond to DFX at the initial dose of 20-30 mg/kg•d. However, the SF level decreased significantly after the dose of DFX increased to 30-40 mg/kg•d (U=58, P<0.01). Serum liver transaminase elevation was the most common adverse effect, followed by non-progressive elevation in serum creatinine level. The mean SF level was significantly lower (1748±481 ng/mL vs 3462±1744 ng/mL; P<0.05), in contrast, the liver MRI T2* value was significantly higher (8.5±2.9 ms vs 2.7±1.9 ms; P<0.01) in patients receiving DFX treatment for 5 years than in the controls. There were no significant differences in the cardiac MRI T2* value between the two groups.</p><p><b>CONCLUSIONS</b>DFX can reduce SF levels in a dose-dependent manner in children with β-thalassemia major. It can significantly lower liver iron overload but not cardiac overload. Serum liver transaminase elevation and non-progressive elevation in serum creatinine level are major adverse effects in DFX treatment.</p>

Heart rate variability in children with beta-thalassemia major / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the diagnostic value of heart rate variability (HRV) in heart dysfunction in children with beta-thalassemia major (β-TM)by examining the changes of HRV in β-TM children.</p><p><b>METHODS</b>A 24 hours Holter monitoring electrocardiogram (Holter) was performed in 21 children with β-TM and 15 healthy children (control group). The time domain and frequency domain indexes of HRV in the two groups were compared. The correlation between serum ferritin levels and HRV was evaluated.</p><p><b>RESULTS</b>The time domain indexes SDNN, rMSSD and PNN50 and the frequency domain indexes very low frequency (VLF), low frequency (LF) and high frequency (HF) in the β-TM group were significantly lower than in the control group (P<0.05). There was no correlation between serum ferritin level and HRV in children with β-TM.</p><p><b>CONCLUSIONS</b>The autonomic nerve dysfunction exists in children with β-TM. HRV analysis is useful in the prediction of early cardiac dysfunction in children with β-TM.</p>

Protective effects of trichosanthin in Herpes simplex virus-1 encephalitis in mice / 中国当代儿科杂志

<p><b>OBJECTIVE</b>Trichosanthin (TCS), a ribosome-inactivating protein extracted from the root tuber of Chinese medicinal herb Trichosanthes kirilowii maximowicz, has various pharmacological properties including abortifacient, anti-tumor and anti-virus. This study aimed to evaluate the effects of TCS on infectious brain injury induced by Herpes simplex virus-1 (HSV-1) in mice.</p><p><b>METHODS</b>Ninety mice were randomly assigned into three groups: Normal control group (n=30), Model group (n=30) and TCS-treated group (n=30). Viral encephalitis was induced by intracranial inoculation of HSV-1 in the latter two groups. The TCS-treated group was injected with TCS 30 minutes before HSV-1 inoculation. The water content of brain tissue was measured at 1, 12, 24 and 48 hrs, and at 4 and 7 days after HSV-1 inoculation. The viral titer of brain tissue and brain histopathological changes were detected at 7 days after HSV-1 inoculation. The neurological deficient scores were determined daily.</p><p><b>RESULTS</b>The water content of brain tissue in the TCS-treated group between 48 hrs and 7 days after HSV-1 inoculation was significantly lower than that in the Model group (P < 0.05), although it was significantly higher than that in the Normal control group (P < 0.05). The viral titer of brain tissue in the TCS-treated group was markedly lower than that in the Model group (1.16 +/- 0.45 vs 2.89 +/- 0.44; P < 0.05) 7 days after HSV-1 inoculation. The neurological deficient scores of the TCS-treated group after 24 hrs of HSV-1 inoculation were significantly lower than that in the Model group but were higher than those of the Normal control group. TCS treatment resulted in alleviated pathological changes of brain tissue compared with the Model group 7 days after HSV-1 inoculation.</p><p><b>CONCLUSIONS</b>TCS has protective effects against infectious brain injury induced by HSV-1 in mice.</p>

Significance of MMP2 and MMP9 expression in prostate cancer / 中华男科学杂志

<p><b>OBJECTIVE</b>To evaluate the significance of the expression of matrix metalloproteinases (MMPs) in prostate cancer (PCa) and its clinical association.</p><p><b>METHODS</b>Fifty one cases of PCa and 10 cases of BPH were studied by immunohistochemical method using monoclonal antibodies to MMP2 and MMP9.</p><p><b>RESULTS</b>There was significant correlation between MMP2 or MMP9 and pathological grade, Gleason score and PCa metastasis.</p><p><b>CONCLUSION</b>The expression of MMP2 and MMP9 may play an important role in the development and metastasis of PCa.</p>