Neuromuscular junction disorders: Experimental models and pathophysiological mechanisms.

Located between skeletal muscle fibers and motoneurons, the neuromuscular junction is a chemical synapse essential for the transmission of information from nervous system to skeletal muscle. There are many diseases related to neuromuscular junction dysfunction, including myasthenia gravis, Lambert‑Eaton myasthenic syndrome, congenital myasthenic syndromes, amyotrophic lateral sclerosis, and spinal muscular atrophy. The pathophysiological mechanisms of these diseases have been investigated using many animal models.

Clinicopathological Significance of AKT1 and PLK1 Expression in Oral Squamous Cell Carcinoma.

Purpose: Oral squamous cell carcinoma (OSCC) is the sixth leading cause of cancer-related death worldwide and is characterized by metastasis and recurrence. We aimed to evaluate the expression of AKT1 and PLK1 in OSCC and identify their correlation with the clinical and histological features and prognosis of patients with OSCC.

Methods: Tissue samples were collected from 70 patients with OSCC and 50 patients with normal oral mucosa.

[MicroRNA model that can predict the prognosis of oral squamous cell carcinoma based on bioinformatics analysis].

Objective: The microRNA (miRNA) prognostic model can predict the prognosis of patients with oral squamous cell carcinoma (OSCC) on the basis of bioinformatics. Moreover, it can accurately group OSCC patients to improve targeted treatment.

Methods: We downloaded the miRNA and mRNA expression profile and clinical data of OSCC from The Cancer Genome Atlas (TCGA).

Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.

Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion. Late-onset MADD with syncope has not been reported previously.

No association of four candidate genetic variants in MnSOD and SYNIII with Parkinson's disease in two Chinese populations.

Background: The manganese superoxide dismutase (MnSOD) gene, which encodes a chief reactive oxygen species (ROS) scavenging enzyme, has been reported to be associated with the risk of developing sporadic Parkinson's disease (PD) in some Asian races and the synapsin III (SYN3) gene with some neuropsychiatric diseases.

Objective: To explore the associations between the MnSOD and SYN III variations and PD in two Chinese populations from mainland China and Singapore.

Methods: We recruited 2342 subjects including 1200 sporadic PD patients and 1142 healthy controls from two independent Asian countries.

Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.

Background: The first large-scale meta-analysis of published genome-wide association studies (GWAS) in Parkinson's disease (PD) identified 5 new genetic loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). Very recently, a large-scale replication and heterogeneity study also reported that STK39 and CCDC62/HIP1R increased risk of PD in Asian and Caucasian populations. However, their roles still remain unclear in a Han Chinese population from mainland China.

SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.

Alpha-synuclein gene (SNCA) polymorphisms have been associated with Parkinson's disease (PD). A recently published genome-wide association study (GWAS) meta-analysis from the USA and Europe found a strong association between SNCA rs356219 and PD. Considering the population-specific heterogeneity, we investigated the role of SNCA rs356219 as PD susceptibility in a large Han Chinese population of 685 patients and 569 controls.

Association between asymptomatic carotid stenosis and cognitive function: a systematic review.

Background: Asymptomatic carotid stenosis (CS), traditionally considered clinically silent, may be an independent risk factor for a cognitive impairment.

Methods: To determine whether an association exists between asymptomatic CS and cognitive function, we systematically reviewed the literature in the Cochrane Library, MEDLINE, EMBASE and the China National Knowledge Infrastructure databases.

Results: A total of 8 cross-sectional studies and 2 community-based cohort studies were included, comprising 763 participants in the CS group and 6308 participants in the non-CS group.

GSK3β reduces risk of sporadic Parkinson's disease in ethnic Chinese.

Genetic variability of glycogen synthase kinase-3β (GSK3β) may be linked to Parkinson's disease (PD). Its role in ethnic Chinese population is still unclear. We examined the association between GSK3β variation and PD in a Han Chinese population from mainland China.

Genetic analysis of LRRK2 A419V variant in ethnic Chinese.

Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) are the most common causes of autosomal dominant and sporadic forms of Parkinson's disease (PD). The A419V variant has been suggested to be a potential risk variant but its role among Chinese is unclear. We genotyped LRRK2 A419V variant to investigate the association with risk of PD.

GWAS-linked GAK locus in Parkinson's disease in Han Chinese and meta-analysis.

Genome-wide association studies of Parkinson's disease (PD) have recently identified a new susceptibility locus GAK (PARK17) (rs1564282 variant) in subjects of European ancestry. Its role in other races is still unclear. The potential differences of the clinical characteristics between carriers and non-carriers have not been examined in detail.

Association of GWAS loci with PD in China.

Genome-wide association studies (GWAS) have identified numerous single-nucleotide polymorphisms (SNPs) at four loci (SNCA, PARK16, LRRK2, BST1) that can modulate the risk of Parkinson's disease (PD). The strength of these associations has yet to be clarified in Mainland China. Ethnic specific effect is an important consideration in GWAS analysis.

Functional parkin promoter polymorphism in Parkinson's disease: new data and meta-analysis.

Background: A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients.

Methods: Using a case-control methodology, we genotyped the SNP in the promoter region of the parkin gene to investigate their association with risk of PD and conducted a pooled analysis of published papers in the English literature.

Results: A total of 1087 study subjects comprising 595 patients with PD and 492 unrelated healthy controls were recruited.

Multiple LRRK2 variants modulate risk of Parkinson disease: a Chinese multicenter study.

We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.

[Regional difference of land use/cover change in farming-pasturing zone of Naiman Banner in Inner Mongolia].

Based on the four TM images of Naiman Banner in Inner Mongolia in 1975, 1985, 1995 and 2005, the extent and relative rate of land use change were used as the indices to analyze the regional difference of land use/cover change in the farming-pasturing zone of Naiman Banner, and the indices abundance and importance value were adopted to analyze the spatial distribution features of land use/cover change in the study area. The results showed that from 1975 to 2005, the types of land use/cover became diversified. The annual change rate was high, and the regional difference was significant.