[Application of Next-Generation Sequencing in Rare Renal Diseases].

Rare diseases refer to the diseases with low prevalence,among which more than 150 kinds involve the kidney.Most of the rare renal diseases have genetic background.Due to complex etiology and diverse clinical phenotypes,most patients have progressed to the final stage of the disease before a clear diagnosis.Gene testing is a powerful tool for the diagnosis of rare renal diseases.The emergence of the next-generation sequencing (NGS) significantly improves the diagnostic efficiency and quality and provides an unprecedented opportunity to understand the molecular genetic basis of rare renal diseases and further select or develop targeted therapies.This article reviews the application progress,challenges,and prospects of NGS in rare kidney diseases.

Contralateral hemi-fifth-lumbar nerve transfer for unilateral lower limb dysfunction due to incomplete traumatic spinal cord injury: A report of two cases.

Current strategies for the chronic stage of spinal cord injury (SCI) had seen little progress. In this report, we present the use of contralateral L5 nerve transfer for the treatment of incomplete SCI patients with unilateral lower limb dysfunction in two male patients. One was diagnosed with L2 vertebral fracture and dislocation combined with coni medullaris injury 10 months prior, and the other was diagnosed with T6 and T7 vertebral fractures with SCI 24 months prior. The patients were treated with decompression surgery within 24 hr after injury. The patients reached a recovery plateau after 6-8 months of spontaneous recovery of locomotion and sustained paralysis in the right leg and were left confined to the wheelchair. The score on the lower-extremity Fugl-Meyer assessment (FMA-LE) was 7 for both patients. The patients were then enrolled, and they underwent half of the anterior root of the contralateral L5 transfer to S1 and S2 to improve lower limb motor function. A posterior approach was performed to expose the L5, S1, and S2 nerve roots. Half of the anterior root of the left L5 was cut, and end-to-end neurorrhaphy from the left L5 to the right S1 and S2 was performed subdurally. After the surgery, routine rehabilitation treatments were prescribed. Muscle strength decreased transiently in the donor-side before recovering within 12 months postoperatively. Muscle strength was significantly improved on the affected side 2 years postoperatively, when the FMA-LE scores increased to 14 and 15, respectively. The patients regained independent walking ability with crutches. This report suggests that contralateral hemi-5th-lumbar nerve transfer is safe and can benefit incomplete SCI patients with unilateral lower limb dysfunction.

P absorption and removal mechanism of new Salix clone (A42)on eutrophic water with different P concentrations.

Phosphorus is the necessary element for plant growth, and its concentration is one of the main indices for water eutrophication. Hence, it is significant to understand how woody plants purify phosphorus in eutrophic water. The purpose of this study is to reveal the P absorption and removal mechanism of Salix matsudana in eutrophic water with different P concentration. We selected new S. matsudana clone (A42) as experimental material and set three levels of P concentration (low P: 0.1, 0.2 mg·L-1; medium P: 1.0, 2.0 mg·L-1, high P: 10.0 mg·L-1), and the floating bed hydroponic experiment was conducted at the greenhouse from July to September, 2017. We found that S. matsudana efficiently removed P in water (removal rate >79% in 21 days). There was a positive correlation between the removal quantity and P concentration in the water. The removal ratio rose at first and then fell with increasing P. Owing to the purification of S. matsudana, the P concentrations ranging from 0.1 mg·L-1 to 1.0 mg·L-1 were reduced to minimum threshold concentration of eutrophication (0.016-0.032 mg·L-1) in seven days. The percentage of phosphorus input in water that assimilated by S. matsudana ranged from 29.0% to 66.9%. The quantity and ratio of assimilated P were respectively positive and negative relation with P concentration. Salix matsudana adapted to eutrophic water with different P concentrations and normally grew during experiment period, with root-shoot ratio being significantly increased with decreases of water P concentrations. The characteristic of phosphorus distribution in plant organs was: stem> leave>root, while the translocation factors (TF) of nitrogen and phosphorus were both greater than 3. When S. matsudana grew in eutrophic water with high phosphorus concentration, the TF of nitrogen and phosphorus significantly increased to 4.53±0.24 and 4.92±0.62 respectively. Our results indicated that S. matsudanais could purify the eutrophic water and it could normally grow. New clone of S. matsudana could effectively absorb phosphorus in the water and accumulated it in the stem, which could reduce secondary pollution. In conclusion, S. matsudana could be used for a short-term treatment on the eutrophic water with low P concentration, while for the long-term treatment it is adapted to eutrophic water with high phosphorus concentrations.