A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

PRRT2 mutations are the major causative agent of paroxysmal kinesigenic dyskinesia with infantile convulsion (PKD/IC). The study is aimed at screening PRRT2 gene mutations in patients who suffered from PKD/IC in Chinese population. Thirteen Chinese patients with PKD/IC were screened randomly for coding exons of the PRRT2 gene mutation along with 50 ethnically coordinated control people. Nine (2 unaffected) and 4 of the patients showed familial PKD/IC and apparently sporadic cases, respectively. We identified 5 different PRRT2 mutations in 10 individuals, including 8 familial and 2 apparently sporadic cases. However, no mutations were found in the 50 ethnically matched controls. Unknown (novel) NM_145239.2:c.686G>A and previously reported NM_145239.2:c.743G>C variants were identified in two familial and sporadic patients. All affected members of family A showed mutation NM_145239.2:c.650_670delinsCAATGGTGCCACCACTGGGTTA. The previously identified NM_145239.2:c.412 C>G and NM_145239.2:c.709G>A variants are seen in two individuals assessed in family B. Other than the previously identified variants, some of the patients with PRRT2-PKD/IC showed a new PRRT2 substitution variant. Thus, the spectrum of PRRT2 variants is expanded. The possible role and probability of PRRT2 variants involved in PKD/IC are highlighted.

[Clinical efficacy of Matrine and Sodium Chloride Injection in treatment of 40 cases of COVID-19].

In this paper, we analyzed medical records of 40 patients with coronavirus disease 2019(COVID-19), in order to explore the clinical efficacy of Matrine and Sodium Chloride Injection in the treatment of COVID-19. The investigation was based on the results of a previous animal test, which was aimed to investigate and confirme the clinical efficacy of Matrine and Sodium Chloride Injection in the treatment of COVID-19. The animal test demonstrated that Matrine and Sodium Chloride Injection has a significant therapeutic effect on the human coronavirus pneumonia for the model mice. The lung inhibition index reached up to 86.86%. The evaluation was conducted on 40 confirmed cases of COVID-19 treated at Jingzhou Hospital of Infectious Disease(Chest Hospital) of Hubei Pro-vince from January 30~(th) to March 21~(th), 2020. In these cases, patients were treated with other integrated Chinese and Western medicines regimens in the recommended Matrine and Sodium Chloride Injection diagnosis and treatment regimen. The clinical manifestations, laboratory data, nucleic acid clearance time, and imaging data were compared and analyzed before and after treatment. After administration with Matrine and Sodium Chloride Injection, the clinical symptoms of 40 cases were alleviated markedly, and their blood analysis and biochemical indexes returned to normal. The lung CT showed more than 50% of lesion absorption rate, and the viral nucleic acid test showed the average clearance time of patients was 16.6 days, and the average length of hospital stay was 25.9 days. After administration with Matrine and Sodium Chloride Injection, the symptoms of cough and fatigue were alleviated significantly, and the appetite was significantly improved compared with before, especially for patients with gastrointestinal symptoms. Additionally, laboratory indicators, especially absolute value and ratio of lymphocytes and CRP were significantly alleviated. According to the chest CT for short-term review, the absorption of lung lesions was faster than before, especially for grid-like and fibrotic lesions. Compared with antiviral drugs, such as Abidol and Kriging, the nucleic acid clearance time was significantly shorter than the cases treated with Matrine and Sodium Chloride Injection. The clinical effective rate of 40 cases was 100.0%. We believed that Matrine and Sodium Chloride Injection have a good clinical effect in the treatment of COVID-19, and suggested increasing the clinical application and further conducting large-sample-size cli-nical verification.

Anticonvulsant and Neuroprotective Effects of Paeonol in Epileptic Rats.

Paeonol is the main active compound in the root bark extract of the peony tree, and it has antioxidative and anti-inflammatory effects. Recent studies have reported the neuroprotective effects of paeonol including its capacity in improving impaired memory. However, the effect of paeonol on epilepsy is yet to be demystified. We aimed to investigate the therapeutic effect of paeonol in epilepsy and its relationship with oxidative stress damage and neuronal loss in the rat brain to reveal the underlying mechanisms of epileptic seizures. A rat model for chronic epilepsy was established, and the seizure scores of the rats in different groups were recorded. The seizure duration and the seizure onset latency were used to evaluate the anticonvulsant effects of paeonol. Terminal deoxynucleotidyl transferase dUTP nick end-labeling staining, Nissl staining and H/E staining were used to evaluate the effects of paeonol on neuronal loss and apoptosis in epileptic rats. The colorimetric assessment of malondialdehyde (MDA) content, superoxide dismutase (SOD) activity, catalase activity and total antioxidant capacity of paeonol were used in assessing paeonol's effect on oxidative stress in epileptic rats. Evaluation of Caspase-3 mRNA and protein expression levels were determined using western blot and quantitative real-time (RT-q)PCR. In this study, we found that paeonol reduced the seizure scores of epileptic rats and attenuated the duration and onset latency of seizures. Paeonol can also increase the activities of total antioxidant capacity, SOD and catalase activity and reduce MDA content as well. This suggests that paeonol can improve the level of oxidative stress in rats. More significantly, paeonol can improve neuronal loss and apoptosis in epileptic rats. These results indicate that paeonol has anticonvulsant and neuroprotective effects in epileptic rats. This effect may be caused by reducing oxidative stress.

Construction and application of a new cell electrochemical detecting system based on the hyposmotic principle.

A new cell electrochemical detecting system has been constructed based on the hyposmotic principle, in which the electrochemical signals have been strengthened by about 109.75% for the signal at about +0.70 V and 532.94% for the signal at about +1.03 V. The electrochemical detection limits of the cells have been improved by one order of magnitude. The individual concentrations of intracellular purines have been obtained.

[Genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population].

To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection. The five STR loci consist of simple repeat motif and its distributions of genotypes are agreement with Hardy-Weinberg equation. Its polymorphism information content is all over 0.50. The obtained data can not only be used as evidences for genetic diagnosis of Down Syndrome, but also for calculating the probabilities in the paternity test and individual identification.