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Parkinson′s disease is a motion disorder mostly occurring in middle and old age with high disability and death rate. According to epidemiological studies, the incidence of Parkinson′s disease increases year by year worldwide. Tremor is one of the four major symptoms of Parkinson′s disease. However, due to the similarity of signs with other diseases, the diagnosis is mostly based on the clinical experience of neurologist, which makes accurate identification of Parkinson′s disease tremor a challenge. Understanding tremors in Parkinson′s disease can be of help to more accurately diagnose the disease. This article reviews the research progress of tremors presented in Parkinson′s disease and other diseases, and their differentiation, which is expected to be helpful for the diagnosis of Parkinson′s disease.
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Objective To summarize the clinical manifestations, diagnosis, and treatment of infantile Sandhoff disease. Methods The clinical data of one case with infantile Sandhoff disease were reviewed retrospectively. The related literatures were reviewed. Results The girl aged 1 year and 2 months suffered from psychomotor regression and intractable convulsions. The parents were consanguineous marriage. The fundus microscopy showed fundus erythema. Brain magnetic resonance imaging showed an abnormal signal of long T2WI and identical T1WI at left pons, white matter edema, and diffuse demyelination. No abnormal karyotype was observed. A chromosome microarray suggested multiple large homozygous chromosomes segments. The second generation gene sequencing showed deletion of c.1263_1268delTGAAGT:P. (Glu422_Val423del) deletion in exon 11 and a shear mutation of c.1614_2A>G:P? in intron 13 of HEXB gene which were carried by her parents respectively . The activity of HexA, HexA & HexB were 84 and 112 nmol?mg?1?h?1, respectively. Finally, this girl was diagnosed of infantile Sandhoff's disease. After treatment with valproate, levetiracetam combined with antiepileptic and glucocorticoids, episodes of convulsions were decreased gradually, and the reaction was better than before. In 5 months of follow up, the condition was stable, and no progression and no seizures exist. Her mother got pregnant again and received an amniocentesis on her 21+6 weeks of pregnancy, and results suggest that the fetus had the same mutation as this girl. Conclusions Sandhoff's disease is a type of rare hereditary lysosomal disease, characterized by progressive neurological impairment. Currently there are no effective treatments. Genetic testing is helpful in the diagnosis and prenatal diagnosis.
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Epidermal growth factor receptor (EGFR) is found to express at high levels in a variety of solid tumors including gliomas. This study was to examine the effect of an EGFR-tyrosine kinase inhibitor (AG1478) alone or in combination with cisplatin (CDDP) on the growth of glioma cells (U87). U87 glioma cells were treated with AG1478 (10 μmol/L) or CDDP (25 μmol/L) as a single agent or in combination for 24 or 48 h. The expression of EGFR and the components in its downstream signaling pathway [extracellular signal-regulated kinase (ERK), protein kinase B (AKT)] in U87 glioma cells was detected by Western blotting. Cell growth, cell cycle distribution and cell apoptosis were determined by MTT method and flow cytometry, respectively. The results showed that CDDP could induce the activation of EGFR and the components in its downstream signaling pathways in a concentration-dependent manner. The combined treatment of AG1478 with CDDP could inhibit the proliferation of U87 glioma cells, arrest the cell cycle and promote cell apoptosis. In the EGFR signaling pathway, AG1478 decreased the phosphorylation of ERK, AKT and EGFR in U87 glioma cells. It was concluded that the combined treatment of AG1478 and CDDP may exert synergistic inhibitory effects on the growth of glioma cells by suppressing the activities of EGFR, AKT and ERK.
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Objective To evaluate the efficacy of surgical excision combined with iodine-125 implants intmcavitary radiotherapy for neumglioma Method After excision,27 patients with nenroglioma were implanted with the iodine-125 into the tumor bed or the residual tumor tissues.Results Of all cases,there were no operative mortality and no serious complication.The survival time of 25 cases exceeded 6 months and 1 glioblastoma recurrence,22 cases exceeded 12 months,3 glioblastoma and 1 astrocytoma Ⅲgrade recurrence.There were 19 cases exceeding 24 months,15 cases no recurrence,3 cases died for cere bral hernia because of giving.up further tremment,1 case surviving.Conclusions Surgical excision Combined with iodine-125 implants intracavitary radiotherapy can improve partial control rate,prolonged the survival time of patients with neuroglioma,and complications is rare.It is an efficient therapy for neu roglioma