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Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered. This disease has featured a high degree of clinical heterogeneity, and the same pathogenic variant can have different age of onset and severity among different patients and even within the same family. There is a lack of systematic research on the correlation between the genotype and phenotype of SPG4, and the pathogenic mechanism has remained controversial. This article has provided a review for the clinical characteristics, pathogenic gene characteristics, correlation between the genotype and phenotype, and pathogenic mechanism of this disease, with an aim to provide reference for its clinical diagnosis and treatment.
Assuntos
Humanos , Paraplegia Espástica Hereditária/genética , Mutação , Espastina/genética , Paraplegia/genética , FenótipoRESUMO
Nonalcoholic fatty liver disease is a common chronic liver disease with the risk of progression to nonalcoholic hepatitis, liver fibrosis, and hepatocellular carcinoma. Nonalcoholic fatty liver disease has various pathogeneses, among which abnormal metabolism of branched-chain amino acids can induce oxidative stress, autophagy, and mitochondrial dysfunction in hepatocytes and is the most important mechanism in the development and progression of nonalcoholic fatty liver disease. This article reviews related research advances and analyzes the possible role of abnormal metabolism of branched-chain amino acids in the development and progression of nonalcoholic fatty liver disease, in order to improve clinical awareness and diagnosis.
RESUMO
Objective To observe the inhibitory action of Qigefang on cell proliferation,movement,secreting MMP-2 and MMP-9 of MGC gastric cancer cell line.Methods MGC cell line of gastric cancer was cultured and divided into five groups randomly:low-,middle-,high-dose group of Qigefang,5-FU group,control group.Qigefang was added in Qigefang group to make final concentration of 35,70,140 mg/mL,5-FU in chemothapy group to 50 ?g/mL,and PBS in control group.Tumor cell proliferation was detected by MTT,moving ablity of tumor cell by agar drop,and MMP-2,MMP-9 activity by gelatinase zymography.Results Qigefang had obviously depressant effect on proliferation of MGC cell.It became more obviously with raising drug density.Moving ability of all dose Qigefang groups and 5-FU group were more feeble than control group.The difference was significant(P