Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.

Spastic paraplegias (SPGs) are a group of clinically and genetically heterogeneous neurodegenerative diseases. Mutations in 78 genes have been identified in autosomal dominant hereditary SPG (AD-HSP) and autosomal recessive hereditary SPG (AR-HSP). Compared to familial HSP, much less is known about the genetic and clinical profiles of sporadic SPGs.

[Characteristics and composition of vegetation carbon storage in natural grassland in Ning-xia, China.].

We measured the total vegetation carbon stock in the widely distributed natural grassland of meadow steppe (MS), warm steppe (WS), steppe desert (SD) and desert steppe (DS)] in Ningxia, using survey and sampling method. The results showed that the average carbon rate of vege-tation, shrubs and root were 0.40, and that of litter was 0.

Effect of High Suspension and Low Incision Surgery Based on Traditional Ligation of Chinese Medicine in Treatment of Mixed Haemorrhoids: A Multi-centre, Randomized, Single-Blind, Non-inferiority Clinical Trial.

Objective: To observe the clinical effect of high suspension and low incision (HSLI) surgery on mixed haemorrhoids, compared with Milligan-Morgan haemorrhoidectomy.

Methods: A multi-centre, randomized, single-blind, non-inferiority clinical trial was performed. Participants with mixed haemorrhoids from Xiyuan Hospital of China Academy of Chinese Medical Sciences, Beijing Rectum Hospital, Air Force Medical Center of People's Liberation Army of China, and Puyang Hospital of Traditional Chinese Medicine were enrolled from September 2016 to March 2018.

[Carbon sequestration characteristics of typical temperate natural grasslands in Ningxia, China].

To accurately estimate ecosystem carbon storage of natural grassland in Ningxia, we examined ecosystem carbon storage in four types of typical temperate natural grasslands, including meadow steppe, warm steppe, steppe desert, and desert steppe in Ningxia. The results showed that the total vegetation biomass of meadow steppe, warm steppe, steppe desert and desert steppe were 1178.91, 481.

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy.

Studies on myotonic dystrophy type 1 (DM1) have led to the RNA-mediated disease model for hereditary disorders caused by noncoding microsatellite expansions. This model proposes that DM1 disease manifestations are caused by a reversion to fetal RNA processing patterns in adult tissues due to the expression of toxic CUG RNA expansions (CUG) leading to decreased muscleblind-like, but increased CUGBP1/ETR3-like factor 1 (CELF1), alternative splicing activities. Here, we test this model in vivo, using the mouse poly(CUG) model for DM1 and recombinant adeno-associated virus (rAAV)-mediated transduction of specific splicing factors.

[Electrophysiological features of patients with myotonic dystrophy type 1].

Objective: To explore the electromyography (EMG) and nerve conduction (NC) features of patients with myotonic dystrophy type 1 (DM1).

Methods: Routine PCR and triplet primed-PCR (TP-PCR) were performed for 33 clinically diagnosed DM1 cases at our clinic from June 2009 to June 2012. The EMG and NC results of 30 patients with a genetic diagnosis of DM1 were collected and analyzed.

[Progress on whole genome sequencing in woody plants].

In recent years, the number of sequencing data of plant whole genome have been increasing rapidly and the whole genome sequencing has been also performed widely in woody plants. However, there are a set of obstacles in investigating the whole genome sequencing in woody plants, which include larger genome, complex genome structure, limitations of assembly, annotation, functional analysis, and restriction of the funds for scientific research. Therefore, to promote the efficiency of the whole genome sequencing in woody plants, the development and defect of this field should be analyzed.