A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family / 中华皮肤科杂志

Objective:To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family.Methods:Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database.Results:The patient harbored a homozygous missense mutation c.812T>C (p.Ile271Thr) in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases.Conclusion:The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.

Advances in role of inflammasome in fibrotic diseases / 中国药理学通报

The inflammasome—a molecular complex of proteins whose activation and subsequent secretion of inflammatory cytokines are essential for innate immune defense, playing an significant role in adaptive immune responses. Fibrosis is the final stage of the development of chronic inflammation, which is the result of excessive deposition of extracellular matrix, leading to tissue structure damage and organ dysfunction. This paper reviews the role of inflammasome in fibrotic diseases in order to promote the research and development of inflammasome mechanisms and drugs.

Analysis of Plantar Pressure before and after Occurrence of Neurogenic Intermittent Claudication in Patients with Central Lumbar Spinal Stenosis / 医用生物力学

Objective To investigate the changes of plantar pressure distributions and risk of falling before and after the occurrence of neurogenic intermittent claudication (NIC) in patients with central lumbar spinal stenosis (LSS), so as to provide theoretical and data references for the application of plantar pressure analysis in judgment of walking abilities for LSS patients. Methods Twelve patients with LSS at the L4-5 segment were selected as the LSS group, while twelve healthy adults at the same age were selected as the control group. Footscansystem was used to measure plantar pressure of these subjects during walking. Contact area percentage of the total foot contact area (CA%), pressure-time integral (PTI), foot progression angle (FPA), contact time percentage of the stance time (CT%) and total stance time (CT) in both LSS group and control group were compared to evaluate changes of plantar pressures during walking．Results Before the occurrence of NIC, compared with the control group, the LSS group had lower CT% during the forefoot push-off phase (FFPOP) and higher CT% during the initial contact phase (ICP), the total CT and FPA also increased, and the PTI of the 1st-3rd metatarsals and the CA% of the 2nd and 3rd metatarsals were higher. After the NIC occurred, for LSS group, CT% during ICP and forefoot contact phase (FFCP) decreased, CT% during the foot flat phase (FFP) and FFPOP as well as total CT and FPA increased, the PTI and CA% increased in 1st-4th metatarsals. Moreover, the CA% also increased in toe zone, both the PTI and CA% decreased in heel zone. Conclusions In patients with central LSS during walking, the distribution of plantar pressure shifts forward, with abnormal phase of the stance time occurring. Such abnormality will be further aggravated by NIC, indicating a higher risk of falling.

Neuroprotective effect of LSS on Aβ1-42-induced BV-2 microglial cells through the inhibition of neuroinflammation / 中国药理学与毒理学杂志

OBJECTIVE To investigate the effect of neuroprotective effect of lychee seed saponins (LSS) in BV-2. METHODS Aβ1-42 induced BV-2 cells were incubated with LSS for 12 h, the content of the inflammatory factors such as IL-1β, TNF-α, COX-2 and iNOS in the supernatant of BV-2 cell were measured by ELISA. The detection of the mRNA levels and the protein expression of the inflammatory factors including IL-1β, TNF-α, COX-2 and iNOS using real-time PCR and Western blotting, respectively. RESULTS The level of IL-1β, COX-2 and iNOS significantly increased with the treatment of Aβ1-42, and 0.117 mg·L-1-0.469 mg·L-1 LSS can inhibit these increased level. CONCLUSION LSS conferred neuroprotection via inhibiting the inflammatory factors expression.