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Objective:To investigate the relationship between inherited dysplasminogenemia and cerebral infarction (CI) by phenotype and gene mutation analysis of 2 inherited dysplasminogenemia pedigrees.Methods:Retrospective analysis was carried out on clinical data of 2 patients diagnosed with CI who were treated in the Department of Neurology, the First Affiliated Hospital of Wenzhou Medical University in January and March 2021, and peripheral venous blood samples were collected from proband 1 and his family members (8 subjects, 4 generations in total) and proband 2 and her family members (5 subjects of 3 generations in total), and their plasminogen (PLG) activity (PLG:A), protein C activity, protein S activity, antithrombin activity and the content of PLG antigen (PLG: Ag), fibrinogen, D-dimer and fibrinogen degradation products were measured for definite diagnosis. All 19 exons,5′ and 3′ untranslated regions of PLG were amplified with polymerase chain reaction, and the amplification products were analyzed by direct DNA sequencing. The results were compared with human PLG reference sequences published in the National Center for Biotechnology Information database using Chromas software to find the mutation sites, and confirmed by reverse sequencing.Results:Both of the 2 patients with confirmed CI had a young onset, and PLG: A was reduced to 21% in the proband 1 and to about 50% in 4 family members; PLG: A was reduced to about 50% in the proband 2 and 2 family members; PLG:Ag and the above tests were essentially normal in both probands and family members. Gene analysis showed that the proband 1 had the homozygous mutation of c.1858G>A in exon 15, the 4 family members of the proband 1, proband 2 and her 2 family members had the heterozygous mutation of c.1858G>A in exon 15, which resulted in a mutation of alanine at position 620 in PLG to threonine (p.Ala620Thr).Conclusions:The decrease of PLG:A was caused by the p.Ala620Thr missense mutation of PLG gene. Proband having CI may be related to the inhibition of fibrinolytic function in the organism due to the p.Ala620Thr missense mutation.
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Objective To evaluate the extremity function of patients with intracerebral hemorrhage (ICH)using short-latency somatosensory evoked potentials (SEPs) and a modified intracerebral hemorrhage (MICH) scale.Methods On admission, SEP was applied in the examination of 61 patients with ICH. P40 latency and the amplitude of posterior tibial nerve potentials in both the healthy and affected extremities were measured. Abnormalities were classified based on the margin of lower extremity SEP latency and the main waveform changes. MICH was measured simultaneously to prepare a prognosis. The modified Rankin scale (MRS) score was assessed 3 months after the attack as well.Results Compared with the healthy side, there were significant differences in posterior tibial nerve P40 latency and amplitude on the affected side among patients with ICH. P40 latency and MRS scores on the affected side 3 months after the attack were positively correlated. On the unaffected side, P40 amplitude and the MRS score 3 months after the attack were negatively correlated. The MICH score on admission and the MRS score 3 months after the attack were positively correlated. Based on MRS scores (MRS≥4 indicating a poor prognosis), the predictive sensitivities for a poor prognosis of SEP and the MICH scale in patients with ICH were 80.77% and 84.61% respectively, while the specificities were 62.68% and 88.57% respectively, and the accordance rates were 70.5% and 86.9% respectively. Conclusions SEP and the MICH scale are closely correlated with the prognosis for extremity function in patients with ICH.The combination of SEP with the MICH scale might be helpful in predicting the prognosis of the patients with ICH.