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Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.
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Background Visual adaptive mechanism of mammalian is close responsible for the development of visual cortex.The various genes with different biological functions in different developing stages of visual cortex participate in regulation of visual development.To investigate the differential expression profiles of various genes in different ages of rat cortex can offer basis and evidence for the study of visual development.Objective Present study aimed to investigate the genes that changed continuously in the postnatal developmental process of rat visual cortex by microarray analysis of visual cortex RNA.Methods Sixty clean SD rats were grouped numbered and randomized into the postnatal day 0 group (P0,n =20),before eye opening group (postnatal day 10,P10,n =15),before the critical period of visual cortex growth group (postnatal day 20,P20,n =15) and the end of development of visual cortex group(postnatal day 45,P45,n=15).The rats were sacrificed at corresponding time point respectively,and the fresh visual cortex were obtained for the extraction of total RNA and microarray analysis.Genes exhibiting changes in expression by≥2.0 folds were further confirmed using real-time PCR(RT-PCR).In order to evaluate the association of differential gene expression with growth,the postnatal stages were paired as 36 groups with the 3 pairs for each target gene (P45/P0,P20/P0,P10/P0).Results Microarray analysis showed that the gene with differential ratio ≥ 2.0 folds in rat visual cortex included Akap7,Asam,Casp3,Cxcr4,Egr1,Ennp2,Fabp7,Gpr88,Inpp5d,Rpsa,Stk32c and Vamp1.Real-time PCR verified that 24 genes form 26 probe sets had the same-phase regulating tendency,including 20 up-regulating probe sets and 6 down-regulating probe sets.The homodromous expressing tendency was seen in Akap7,Asam,Casp3,Cxcr4,Egr1,Ennp2,Fabp7,Inpp5d,Rpsa and Vamp1 genes between microarray analysis and RT-PCR.However,reverse expressions were found in the P45/P0 of Gpr88 and Stk32c genes,showing the up-regulation in the microarray analysis and down-regulation in RT-PCR.The concordant rate of gene expression between microarray analysis and RT-PCR was 94.44％.The expressing genes mainly functioned nervous system development,(metal) ion binding/transport,metabolism,regulation of neuronal synaptic plasticity.Conclusions New relevant candidate genes of age-associated rat visual cortex can be identified by microarray analysis,which provide a clue for the research of visual plasticity.
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Objective To investigate the therapeutic effect of embolizing carotid-cavernous sinus fistula(CCF) by superior ophthalmic vein(SOV) approaches.Design Retrospective case series.Participants 11 patients with CCF diagnosed by digital subtraction angiography(DSA) were failurers of traditional artery approaches.Methods All pathents were treated with embolizing carotid-cavernous sinus fistula by superor ophthalmic vein approaches.Main Outcome Measures visual acuity,exophthalmos,ocular movement,diplopia,conjunctival hyperemia,ocular fundus changes.Results Clinical cure was achieved in all 11 patients during follow-up for 1 week to 3 months.Six patients with symptoms of exophthalmos disappeared and five improved.8 cases with conjunctival hyperemia vanished and 3 cases relieved.The three patients with decreases of 8 visual acuity,among these one patient was normal and two improved.Intracalvarium strepitus and diplopia were all disappeared and ocular movement was normal.Conclusion Embolizing CCF by SOV is safe and effective when performed by a multidisciplinary team.