est that childhood wheezing is closely related to genetic factors, and children who carry predisposing genes may suffer from frequent wheezing and subsequent asthma.

Objective To investigate the potential benefits of hepatic resection for patients with hepatic metastasis of gastroenteropancreatic neuroendocrine tumors.Methods A search in Cochrane Library,PubMed,Medline,Embase,CBM,Wanfang Databases for identifying randomized trails.Criteria for inclusion were established based on validity criteria by Cochrane Methods Group on screening and diagnostic tests,and correlated indexes of 10 articles including 1 567 patients were extracted for Meta-analysis.Results Compared with non-surgical treatment group,the 3-year survival rate (OR:0.07,95 ％ CI:0.02,0.22 ; Pheterogeneity =0.93,P ＜ 0.00001),the 5-year survival rate (OR:0.19,95 ％ CI:0.15,0.24 ; Pheterogeneity ＝ 0.11,＜ 0.00001) were significantly increased in the surgical group.Conclusions Surgical resection is the preferred treatment of gastroenteropancreatic neuroendocrine tumors in patients with liver metastasis.Surgery is safe and effective,furthermore it takes the advantages of significantly extend the surgical live time.

Objective:In order to study the necessity of introducing PhD students into the large-scale instrument platform and how to make them play a better role in work through management.Methods:The status of technicians in large-scale instrument and equipment platforms of domestic and foreign universities and scientific research institutions were investigated; combined with the experience of more than 10 years of operation of the technology platform of State Key Laboratory of Natural and Biomimetic Drugs of Peking University, the analysis was carried out.Results:In recent years, the large-scale instrument platforms of major universities and scientific research institutions have strengthened the introduction of high-level talents and the construction of the team. Maintain the stability of the instrument service staff through management measures such as rank promotion and salary enhancement.Conclusions:High-precision instruments are the foundation of the instrument technology platform, and well-educated talents are the core of the instrument technology platform. Only when more PhD students join the technology platform, can the high-precision instruments and equipment exert their maximum functions and promote scientific research.

Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

Objective:To report the clinical, electrophysiological and genetic features in a Chinese family with distal hereditary motor neuropathy type V (dHMN-V) and screen the pathogenic mutant gene.Methods:A family with the history of inherited peripheral neuropathy was recruited in the First Affiliated Hospital of Zhengzhou University in July 2017. The clinical features and electrophysiological data were investigated. Genetic testing on well-established genes associated with hereditary peripheral neuropathy was conducted by targeted high throughput sequencing and the candidate variant was screened in the family and normal controls.Results:There were four affected individuals in the family. The proband, a 25-year-old male, was characterized by weakness and atrophy in the distal extremities primarily affected the upper extremities without sensory impairment. Electrophysiological study showed chronic neurogenic pattern in the upper and lower limb muscles. The motor conduction showed reduced velocity and compound muscle action potential amplitude, while the sensory conduction studies results were normal. The grandfather, a maternal uncle and a cousin of the proband exhibited similar clinical manifestations and electrophysiological abnormality. Genetic testing revealed a heterozygous mutation, c.880G>A(p.G294R), in the GARS gene in the proband. Proband′s mother and two other affected individuals carried the mutation which was confirmed by Sanger sequencing. The mutation site was not found in the unaffected members from the family and 300 unrelated normal controls. The variant is a novel mutation which has not been reported in dbSNP, ExAC and 1000 Genomes Project databases. Conclusion:The results suggest that the novel c.880G>A(p.G294R) mutation of the GARS gene is responsible for the Chinese patients with dHMN-V, and the findings broaden the mutational spectrum of GARS gene.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics

Objective:To evaluate the clinical efficacy of thunder-fire moxibustion plus glucosamine sulfate potassium capsule in treating knee osteoarthritis (KOA).Methods:This study was a randomized controlled trial. A total of 90 participants with KOA in the Acupuncture and Moxibustion Department, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University from February 2020 to December 2021 were randomized and assigned into 3 groups, with 30 cases in each group according to the random number table method. The thunder-fire moxibustion group was only treated with thunder-fire moxibustion on Neixiyan and Dubi acupoints, while the medication group was only treated with oral glucosamine sulfate potassium capsule, and the thunder-fire moxibustion plus medication group was treated with thunder-fire moxibustion on Neixiyan and Dubi acupoints combined with oral glucosamine sulfate potassium capsule. All the three groups were treated for 4 weeks. The degree of joint pain and stiffness was assessed using the Western Ontario and McMaster Universities osteoarthritis index (WOMAC); the amount of knee joint cavity effusion was detected by ultrasound; the knee circumference was measured to assess the degree of knee swelling.Results:After treatment, the amount of knee joint cavity effusion [(3.21±2.44) mm, (3.73±2.53) mm vs. (4.80±3.07) mm, F=6.82], the WOMAC score [(65.88±30.25), (77.74±28.27) vs. (86.58±31.50), F=7.92], knee circumference [(36.74±2.74) cm, (37.59±2.63) cm vs. (38.51±3.09) cm, F=8.94] in the thunder-fire moxibustion plus medication group and the thunder-fire moxibustion group were lower than those in the medication group ( P<0.01). Conclusion:Thunder-fire moxibustion plus oral glucosamine sulfate potassium capsule can reduce the amount of knee joint cavity effusion, WOMAC score and the degree of knee swelling, and the efficacy is better than thunder -fire moxibustion and oral glucosamine sulfate potassium capsule.

Objective:In order to allow the large instruments to play the greatest role in scientific research management and technology coverage.Methods:Texts review of the opening and sharing of large-scale instrument platforms of domestic and foreign universities and scientific research institutions was conducted, combined with the experience of more than 10-year operation of the technology platform of State Key Laboratory of Natural and Biomimetic Drugs of Peking University.Results:There are particular problems in the opening and sharing of large-scale instrument technology service platforms at this stage. Through building the hierarchical management of large instruments and equipment, building an efficient and flexible shared management information system, introducing high-level instrument management and high-level talents, and strengthening the security management of the shared platform, State Key Laboratory of Natural and Biomimetic Drugs of Peking University realized the opening and sharing of large-scale instrument technology service platforms. We consider that the current large-scale instrument technology service platforms of universities and research institutes are necessary and feasible to be shared. It is greatly significant to improve the utilization rate of scientific research instruments and to innovate to the ability of the whole society.Conclusions:At this stage, efficient management, system capabilities, and team building can effectively promote the opening and sharing of large-scale instrument technology service platforms.

Neurodegenerative diseases are a group of diseases caused by degeneration and dysfunction of the cells and tissues of the central nervous system， mainly including Alzheimer's disease （AD）， Parkinson's disease （PD）， and epilepsy. A common clinical manifestation of these diseases is cognitive decline. Neurodegenerative diseases are more common in the elderly. As population aging is aggravating， neurodegenerative diseases have aroused increasing concern since they seriously affect human health and quality of life. The pathogenesis of neurodegenerative diseases is complex， mainly related to mitochondrial dysfunction， apoptosis， neurotoxin， neurotransmitter abnormalities， oxidative stress， and inflammation. Although western drugs on the market can attenuate the symptoms of neurodegenerative diseases， they may induce severe adverse reactions and are thus not conducive to long-term use by the patients. The Chinese herbal medicine Angelicae Sinensis Radix was first recorded in the Shennong's Classic of Materia Medica （Shen Nong Ben Cao Jing）. It has the functions of activating blood， tonifying blood， modulating the immune system， regulating menstruation， and relieving pain. This paper summarizes the research progress in the effects of Angelicae Sinensis Radix and the prescriptions containing this medicine on neurodegenerative diseases in recent 10 years， aiming to provide a reference for the future application and research of Angelicae Sinensis Radix in the treatment of neurodegenerative diseases.

Bilateral medial medullary infarction is a rare type of stroke. Hypertrophic olivary degeneration (HOD) is usually secondary to the lesion involving the Guillain-Mollaret triangle with vacuolar degeneration of inferior olivary nucleus neurons and enlargement of inferior olivary nucleus. The primary lesions involving the Guillain-Mollaret triangle are usually located in midbrain, pons and cerebellum. A case of unilateral HOD secondary to bilateral medial medullary infarction is reported and the clinical characteristics, diagnosis and treatment are analyzed in order to improve the understanding of HOD.