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Familial episodic pain syndrome is characterized by ion channel gene mutation in dorsal root ganglion neurons, and there can be neuropathic pain in different parts. However, the lack of awareness of familial episodic pain syndrome, along with the absence of uniform diagnostic and treatment standards, may lead to frequent missed diagnosis and misdiagnosis. This article will review the concepts, classification, pathogenesis, clinical features, diagnosis and treatment of familial episodic pain syndrome, aimed at deepening the understanding of the diseases as well as facilitating early diagnosis and treatment.
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Objective To explore the effect of Qushi-Huaban granule for the allergic purpura and the impact on CD4+CD25+T cells. Methods A total of 80 children with allergic purpura from March 2014 to January 2016 were randomly divided into two groups, the control group and observation group, 40 in each group. The control group was given routine medicine andmontelukast chewable tablets. The observation group was treated with Qushi-Huaban granule on the basis of conventional therapy. The clinical effect, purpura recession time, recurrence rate before and after treatment were observed and compared. The serum levels of IFN-γ (interferon-γ, IFN-γ) and IL-5 were detected by ELISA. The expression level of CD4+CD25+ Treg were observed by flow cytometry before and after treatment. Results The effective rate of the treatment group [92.5% (37/40) vs. 72.5%(29/40), χ2=9.270] was significantly higher than control group (P＜0.01). After treatment, the serum IFN-γ levels in the observation group and the control group were significantly higher than those before treatment (t=3.960, 4.175, P＜0.05). The serum IL-5 levels of two groups were significantly lower than those before treatment (t=8.061, 8.776, P＜0.01).There was no significant differencein the serum INF-γ and IL-5 leves after treatment between two groups (P＞0.05). The regression time of purpura in the observation group (5.2 ± 1.1 d vs. 10.2 ± 2.4 d, t=12.460) was significantly shorter than that in the control group ( P＜0.01). The recurrence rate of the observation group was [7.4% (5/37) vs. 10.3% (3/29)] which was significantly lower than that of the control group, but the difference was not statistically significant (χ2=0.153, P=0.696). The CD4+CD25+T cells (t=7.367, 6.957, P＜0.05) and CD3+CD4+CD25+ T cells (t values were 9.080, 8.885, P＜0.05) of two groupswere significantly higher than those beforetreatment, butthere was no significant difference between the 2 groups after treatment ( P＞0.05). Conclusions The Qushi-Huaban granule combined with montelukast sodium for Henoch Schonlein purpura showed efficacy, and significantly increase the moisture level of T cell subsets.
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Objective To analyze the clinical manifestations and imaging features of human brainstem encephalitis with Parkinson syndrome as the main manifestations. Methods Combined with related literature, the clinical, laboratory and imaging features of three patients with brainstem encephalitis, which were mainly manifested as Parkinson syndrome, were analyzed. Results The 3-hour video EEG showed normal in 2 cases and abnormal in one case with more delta wave in each leads. Cerebrospinal fluid examination revealed normal cell numbers in one case, increased cell numbers in 2 case and elevated cerebrospinal fluid proteins in all 3 cases. serum and CSF IgG anti-NMO antibodies as well as autoimmune encephalitis antibodies were negative in 3 cases. Brain MRI showed symmetrical abnormal signal in bilateral midbrain and pia mater enhancement increased in 3 cases. After hormone, and madopar treatment, Parkinson syndrome symptoms were significantly improved in two patients. Conclusion Brainstem encephalitis-induced symmetrical midbrain lesion can manifest as Parkinson syndrome. The laboratory tests reveal an involvement of immune system and hormone therapy may be effective.
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Objective To investigate the applicative value of enhanced 3D multi-echo GRE T2*-weighted angiography(ESWAN) sequence phase values in evaluating brain gray nuclei iron content in idiopathic restless legs syndrome(RLS) patients, providing imaging basis in diagnosis and treatment of idiopathic RLS. Methods In our institute from June 2012 to September 2016,forty-five RLS patients were selected as the RLS group, and 45 healthy volunteers as the control group. ESWAN sequence was performed and serum ferritin values were obtained in all patients and volunteers. The raw data of ESWAN was postprocessed , where the phase maps were obtained. Phase analysis was performed on localized brain gray nuclei regions of interest (substantia nigra, red nucleus, dentate nucleus, thalamus, pallidum, putamen and caudate nucleus ) selected on phase maps. Differences between the 2 subject groups were evaluated using ANCOVA including age as a covariate. Results The phase values of the substantia nigra, thalamus, pallidum and putamen in the RLS group were (-0.087 ± 0.021), (-0.053 ± 0.012), (-0.161 ± 0.008), (-0.125 ± 0.019) radians , respectively. The phase values of the substantia nigra, thalamus, pallidum and putamen in the control group were (-0.127 ± 0.007), (-0.066 ± 0.007), (-0.166 ± 0.007), (-0.150 ± 0.010) radians, respectively. There were significant differences between the two groups (F=142.492, 37.988, 10.558, 60.725;P0.05). Conclusions Phase values can make a quantitative assessment of brain gray nuclei iron content in RLS patients, our results supported the hypothesis of reduced brain iron content in RLS patents , which may have an important role in the pathogenesis of the disorder. However, iron content change in some brain regions was not correlated with serum ferritin concentration changes.
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Objective The aim of this article is to study the clinical features, image, electroencephalogram and gene mutation of mitochondrial encephalomyopathy with MELAS and to improve understanding of the disease. Methods Clinical data was collected from 12 MELAS cases. Their clinical symptoms, head imageological result,electroencephalo-gram and gene mutation were analyzed. Results The average onset age was 28 years old. The main manifestations of 12 patients were epilepsy(66.7%), stroke-like episodes(50.0%), mental behavious disorder and decrease of perceive (41.7%),diabetes or abnormal glucose tolerance(41.7%), hearing impairment(41.7%). The imaging results showed long T1, long T2 and high signals on DWI. The nidus involved occipital lobe, temporal lobe, parietal lobe most. Five of six cases undergoing MRS imaging had large lactate peak at 1.33 ppm. There were 9 cases carrying mtDNA A3243G muta-tion. Conclusion The clinical presentation of MELAS is highly variable without any obvious specificity on MRI and EEG. Large lactate peak on MRS may indicate the disease. Most patients carry A3243G mutation.
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Background and purpose:Bladder cancer is the most common urological tumor, and its pathogen-esis is still not fully understood. The study was aimed to observe the expressions of key genes in many tumor-associated signaling pathways in normal bladder tissue and bladder carcinoma, and to provide further evidence for the subsequent study of bladder cancer recurrence and metastasis.Methods:Twenty-seven cases of bladder cancer specimens were col-lected, and normal bladder tissues and bladder cancer tissues were distinguished by frozen section. Then, the expressions of 84 genes of cancer-related signaling pathways in bladder cancer tissues and normal bladder tissues were screened by Cancer Pathway Finder PCR Array produced by QIAGEN company.Results:Compared with the normal bladder tissues, the bladder carcinoma tissues had 8 up-regulated genes and 19 down-regulated genes. In this study, the impact of epithe-lial-mesenchymal transition (EMT) signaling pathway was selected as a research direction in which theGSC,KRT14,DSP were up-regulated,SNAI2,SNAI3 were down-regulated. ThereforeGSC,KRT14,DSP,SNAI2 andSNAI3 were chosen as target genes, and verified by qRT-PCR in many examples. The result showed that the expressions ofGSC gene in bladder cancer tissues were up-regulated, but with no statistical significance;KRT14,DSP expressions in bladder cancer were higher than those in normal bladder tissues (P<0.05);SNAI2,SNAI3 expressions in bladder cancer were lower than those in normal bladder tissues (P<0.05), andSNAI3 showed the most obvious expression differences.Conclusion:KRT14,DSP andSNAI3 may play an important role in bladder cancer’s occurrence, development and metastasis.
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Here we report the clinical,radiological and neuropathological findings of a patient with tumor-like inflammatory demyelinating diseases of the central nervous system.The patient was a 51-year-old man with a four-month history of inflammatory pseudotumor and no other significant medical history,who presented to our hospital recurrent relapse numbness and weakness of his right extremities,dysarthria and memory deterioration.Brain magnetic resonance imaging(MRI) showed mass focal lesion in white matter of left parietal lobes.The biopsy showed numerous infiltrating macrophages and lymphocytes within the perivascular.The patient responded clinically to corticosteroid and intravenous immunoglobulin(IVIG) therapy.According to the results of the biopsy and the MRI,a diagnosis of inflammatory pseu-dotumor of the central nervous system was made.The vascular dysfunction may act in the pathogenesis of inflammatory pseudotumor of the central nervous system.