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1.
Chinese Journal of Medical Genetics ; (6): 922-925, 2019.
Article in Chinese | WPRIM | ID: wpr-797496

ABSTRACT

Objective@#To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson’s syndrome.@*Methods@#A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed.@*Results@#The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson’s syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c. 1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes.@*Conclusion@#The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson’s syndrome may be a rare clinical phenotype of CADASIL.

2.
Chinese Journal of Medical Genetics ; (6): 922-925, 2019.
Article in Chinese | WPRIM | ID: wpr-776774

ABSTRACT

OBJECTIVE@#To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson's syndrome.@*METHODS@#A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed.@*RESULTS@#The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson's syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c.1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes.@*CONCLUSION@#The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson's syndrome may be a rare clinical phenotype of CADASIL.


Subject(s)
Humans , Male , Middle Aged , CADASIL , Genetics , Low Back Pain , Magnetic Resonance Imaging , Mutation , Parkinson Disease , Receptor, Notch3 , Genetics
3.
Chinese Medical Equipment Journal ; (6): 24-27, 2017.
Article in Chinese | WPRIM | ID: wpr-510022

ABSTRACT

Objective To design a virtual ECG monitor system based on LabVIEW software and ECG hardware.Methods The ECG sensor from Vernier company and NI ELVIS were used as the signal acquisition platform.The modules of signal acquisition and procession,characteristic parameters extraction and report output were designed with graphical programming language on LabVIEW platform.Results The virtual ECG monitor system could implement reading,procession,analysis,report output by the computer,and individual differences in ECG analysis could be eliminated.Conclusion The system have advantages in easy operation,low cost,multi purposes and etc,and thus it is valuable for the development of miniature andintelligent multiphysiological parameters detection systems.

4.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 751-753, 2013.
Article in Chinese | WPRIM | ID: wpr-749298

ABSTRACT

OBJECTIVE@#To study the diagnosis, treatment and prognosis of sinonasal neuroendocrine carcinoma.@*METHOD@#Eight patients with sinonasal neuroendocrine carcinoma from February 2009 to February 2012 were retrospectively analyzed and the related literatures were reviewed.@*RESULT@#There were seven males and one female. Three cases were treated by surgery only, one case received surgery followed by radiotherapy, and four cases were treated by combined treatment (surgery followed by radiotherapy and chemotherapy). There were three patients with a primary tumor originating from the maxillary sinus, two cases died after 8 and 14 months, another patient was survived in 10 months of follow-up, and the carcinomas did not recur. There were five patients with primary neuroendocrine carcinoma from the nasal cavity, one patient recurred after the surgery and after radiotherapy, the patient did not recur after 20 months of follow-up, and the other four patients did not recur, in 13, 20, 27 and 28 months of follow-up.@*CONCLUSION@#Neuroendocrine carcinomas of the sinuses are rare malignant tumors. Neuroendocrine carcinomas cases with the lesions at different sites differ in the clinical manifestations and prognosis, pathology, immunocytochemistry and electron microscopy, It should be differentiated from poorly differentiated squamous carcinoma melanoma, olfactory nerve blastoma and neurospongioma. The key to improve the survival rate of the disease is early accurate diagnosis and combined treatment.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Carcinoma, Neuroendocrine , Pathology , Therapeutics , Nose Neoplasms , Pathology , Therapeutics , Prognosis , Retrospective Studies
5.
Journal of Biomedical Engineering ; (6): 846-850, 2012.
Article in Chinese | WPRIM | ID: wpr-246547

ABSTRACT

Phased array transducers are very attractive because the beam generated by the arrays can be electronically focused and steered. The present work characterizes far-field 2D properties of phased array system by functions that are deduced from rectangle source, rectangle line array and phased array based on point source. Results are presented for the distribution of ultrasound intensity on plane xoz and on x-axis by simulation using numerical calculation. It is shown that the shape of response of rectangle line array is modulated by the single array element. It is also demonstrated that the delay time of phased array is the key to steer the beam, sacrificing the value of main lobe and increasing the number of side lobes.


Subject(s)
Computer Simulation , Models, Theoretical , Transducers , Ultrasonics , Methods
6.
Journal of Zhejiang Chinese Medical University ; (6)2007.
Article in Chinese | WPRIM | ID: wpr-562838

ABSTRACT

[objective] To investigate the effects of curcumin on the behavior of chronic constrictive injury(CCI)rats and the c-fos expression in spinal cord dorsal horn.[Methods]108 male SD rats were randomly divided into 4 groups:Control group(treated with CCI);Sham operation group;Solvent contrast group;Curcumin treated group.Thermal withdrawal latency(TWL)and mechanical withdrawal threshold(MWT)of rats were determined by Hargreave's thermal radiation apparatus and von Frey's method of microfilament,respectively.The time course of expression of c-fos were assessed by immunohistochemical analysis.[Results]Curcumin could significantly attenuate the activation of c-fos induced by CCI and simultaneously ameliorate thermal and mechanical hyperalgesia induced by CCI.[Conclusion]This study shows that curcumin could attenuate the activation of c-fos to ameliorate the CCI-induced neuropathic pain.

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