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Recently, neuromyelitis optica spectrum disorders (NMOSD) appear to be a multi-organ disorder, however, the involvement of myocardium in NMOSD is extremely rare. In the present article, we present a young girl who manifested bilateral optic neuritis, area postrema syndrome, brainstem syndrome and transverse myelitis, as well as tachycardia, abnormal electrocardiograph, moderate elevation of myocardial biomarker and regional wall movement abnormalities, which confirmed the diagnosis of Takotsubo cardiomyopathy associated with NMOSD. The neurological deficits along with myocardial injury were recovered soon after the administration of intravenous methylprednisolone and intravenous immunogloblin. This is a rare case that should be paid attention and by which can not only broaden the symptom spectrum of NMOSD, but can also provide novel visions for further investigating the mechanism of organs damage.
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OBJECTIVE@#To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.@*METHODS@#A comprehensive analysis including clinical investigation and genetic testing was carried out.@*RESULTS@#The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.@*CONCLUSION@#Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
Subject(s)
Humans , DNA Mutational Analysis , Galactosylceramidase , Genetics , Genetic Testing , Leukodystrophy, Globoid Cell , Genetics , Mutation , Peripheral Nervous System DiseasesABSTRACT
Objective To evaluate the clinical efficacy and safety ofShugan Liqi Qingqiu Decoction in the treatment of allergic rhinitis.Methods Totally 74 patients were randomly divided into treatment group and control group in a 1:1 ratio. The treatment group received the prescription ofShuganLiqiQingqiu Decoction, and control group was given loratadine tablets orally, 7 days as a course of treatment and 3 courses successive. After treatment, the visual analogue scale (VAS), Rhinocoujunctivitis Quality of Life Questionaire (RQLQ), Specific IgE (SIgE) values and total effective rate were measured to evaluate the clinical efficacy, and the total number of cases of adverse reactions was statistically analyzed.Results After all the patients were researched, the total effective rate of treatment group was 86.49% (32/37) in the treatment group and 89.19% (33/37) in control group, without statistical difference (P>0.05). There was statistical difference in VAS and RQLQ between before and after treatment in the two groups (P0.05) in VAS and was statistical difference in RQLQ (P0.05) in SIgE in the treatment group, and was statistical difference (P0.05) in SIgE between the two groups after treatment. There was no adverse reaction except for 2 patients in the treatment group with mild diarrhea. Conclusion ShuganLiqiQingqiu Decoction has good clinical efficacy and safety for the treatment of allergic rhinitis.
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@#Chronic inflammatory demyelinating polyneuropathy (CIDP) is one of the acquired autoimmune peripheral neuropathy with various therapeutical methods. This article reviewed the therapeutical advances in CIDP.