1.Hypnosis with medication on resistant phantom limb pain: A case report
Chengying PAN ; Hongyan WANG ; Tongling ZHANG ; Xin YU
Chinese Mental Health Journal 2017;31(2):123-126
The aim of this study was to evaluate the effect and relative factors of hypnosis combing medication on resistant phantom limb pain (PLP).This study presented one case report involving of the use of visualization,hypnotic imagery,suggestions procedures combing venlafaxine in the alleviation of PLP and depression.Visual analogue score (VAS) and Hamilton Rating Scale for Depression-17 items (HAMD17) were used to assess the severity of PLP and depression,which were evaluated at baseline and the end.Existing literature were reviewed.After hypnosis combing medication,PLP and depression were consistently alleviated.Hypnosis may be a useful adjunct to established strategies for the treatment of PLP.
2.Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I.
Qin ZHANG ; Yuting LIANG ; Ang GAO ; Chengying DUAN ; Yang DING ; Yuhong PAN ; Longwei QIAO ; Hong LI
Chinese Journal of Medical Genetics 2019;36(2):132-135
OBJECTIVE:
To explore the molecular basis for a Chinese family affected with neurofibromatosis type I.
METHODS:
Peripheral blood samples were collected from the proband and his parents. Potential mutations of NF1 gene were screened by PCR and Sanger sequencing. Pathogenicity of candidate mutations was analyzed using Polyphen-2 and Provean software.
RESULTS:
Two mutations of the NF1 gene, including c.702G>A (synonymous mutation) and c.1733T>G (missense mutation), were discovered in the proband. Neither mutation was found in his parents and 50 healthy controls. Bioinformatics analysis indicated that the c.1733T>G mutation (p.Leu578Arg) was probably damaging. The affected codon L578 is highly conserved across various species.
CONCLUSION
The c.1733T>C mutation of the NF1 gene probably underlies the neurofibromatosis type I in this family.
Asian Continental Ancestry Group
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Genes, Neurofibromatosis 1
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Humans
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Mutation
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Neurofibromatosis 1
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genetics
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Neurofibromin 1
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genetics
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Pedigree