Malignant melanoma resection and reconstruction with the first manifestation of lumbar metastasis: A case report.

Background: Malignant melanoma (MM) has shown an increasing incidence worldwide, and a potential to metastasize to almost any part of the body. Clinically, MM with bone metastasis as the initial manifestation is extremely rare. Spinal metastatic MM can cause spinal cord or nerve root compression, resulting in severe pain and paralysis.

[Acupuncture at Shangjuxu (ST37) to Inhibit Distention of Colon Induced Discharge Reaction of LC: an Experimental Study].

Objective: To study possible mechanisms of Shangjuxu (ST37) and the large intestine.

Methods: Totally 40 SD rats were selected. The distension of end colon was used as injured afferent stimulus.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Background: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis.

Methods: By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL).

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive weakness and spasticity of the lower limbs, in complicated forms, with additional neurological signs. To identify the genotype and characterize the phenotype in a Chinese HSP family, ten subjects from the family were examined through detailed clinical evaluations, auxiliary examinations and genetic tests. Using a combined approach of whole-exome sequencing and candidate mutation validation, we identified novel compound heterozygous mutations in the SPG11 gene of the patients as follows: a nonsense mutation c.

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome sequencing in a family with two deaf siblings.

[Effect of electroacupuncture on expression of phosphorylated P 38 MAPK and IL-1beta in frontal lobe and hippocampus in rats with Alzheimer's disease].

Objective: To observe the effect of electroacupuncture (EA) intervention on expression of phosphorylated mitogen activated protein kinase-P 38 (p-P 38 MAPK) protein and Interleukin 1beta (IL-1beta)mRNA in the frontal lobe and hippocampus in Alzheimer's disease (AD) rats so as to explore its mechanisms underlying improvement of AD in clinic.

Methods: Thirty-two SD rats were equally and randomly divided into normal control (normal), sham-operation (sham), model and EA groups. AD model was established by microinjection of Abeta(1-40) (10 microg/microL, 1 microL) into bilateral Meynert nucleus (AP: 1.