Effect of adjuvant therapy with ginkgo-damole on apoptosis, nerve injury and platelet aggregation of patients with acute cerebral infarction

Objective:To investigate the effect of adjuvant therapy with ginkgo-damole on apoptosis, nerve injury and platelet aggregation of patients with acute cerebral infarction. Methods:A total of 74 patients with acute cerebral infarction treated in our hospital from March 2014 to December 2015 were retrospectively analyzed, and they were divided into ginkgo-damole group and conventional treatment group according to a therapeutic schedule that whether ginkgo-diyidamolum were included. At Week 2 and Week 4 after treatment, contents of apoptosis molecule, nerve injury molecule and index of platelet aggregation in serum were detected. Results:At Week 2 after treatment, contents of soluble Fas, soluble Fas ligand, soluble tumor necrosis factor related apoptosis inducing ligand, S100β, neuron specific enolase, glial fibrillary acidic protein, myelin basic protein, malonaldehyde, endothelin-1, fibrinogen and D-dimer in patients' sera of ginkgo-damole group were significantly lower than those of conventional treatment group. Contents of nitric oxide in sera were obviously higher than that of conventional treatment group. At Week 4 after treatment, contents of soluble Fas, soluble Fas ligand, soluble tumor necrosis factor related apoptosis inducing ligand, S100β, neuron specific enolase, glial fibrillary acidic protein, myelin basic protein, malonaldehyde, endothelin-1, fibrinogen and D-dimer in patients' sera of ginkgo-damole group were significantly lower than those of conventional treatment group. Contents of nitric oxide in sera were obviously higher than that of conventional treatment group. Conclusions:Adjuvant therapy with ginkgo-damole can inhibit the apoptosis of neuron cells and neurogliocyte and reduce the neural function injury and the situation of platelet aggregation.

Effect of fasudil combined with conventional therapy on nerve and blood coagulation function as well as Hcy metabolism in patients with acute cerebral infarction

Objective:To analyze the effect of fasudil combined with conventional therapy on nerve and blood coagulation function as well as Hcy metabolism in patients with acute cerebral infarction. Methods:80 patients with acute cerebral infarction treated in our hospital between January 2013 and January 2013 were selected as the research subjects and divided into observation group (n = 40) and control group (n = 40) according to the random number table. Control group received conventional therapy and observation group received fasudil combined with conventional therapy. After 14 d of treatment, the levels of cerebral blood perfusion parameters, nerve function indexes, platelet function indexes and homocysteine (Hcy) of two groups of patients were determined.Results:After 14 d of treatment, middle cerebral artery and basilar artery peak systolic flow velocity (Vs), low diastolic flow velocity (Vd) and mean flow velocity (Vm) levels of observation group were higher than those of control group (P<0.05);serum nerve function indexes brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) content were higher than those of control group (P<0.05) while phosphatidic acid (PA), neuron-specific enolase (NSE), S100β protein (S100β), and substantia nigra divalent metal transporter 1 (DMT1) content were lower than those of control group (P<0.05);serum platelet function indexes platelet activation-dependent granule membrane protein-140 (GMP-140), fibrinogen receptor-1 (PAC-1), platelet activating factor (PAF) and platelet-derived growth factor BB (PDGF-BB) content were lower than those of control group (P<0.05);serum Hcy content was lower than that of control group (P<0.05).Conclusions:Fasudil combined with conventional therapy can optimize the nerve function and blood coagulation function in patients with acute cerebral infarction, and also plays a positive role in reducing Hcy levels.

Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund-Thomson Syndrome in Two Chinese Families

Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected.DNA isolation,RNA isolation and complementary DNA synthesis,and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causativeRECQL4 gene.Results:We analyzed two patients with mild phenotypes.One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T(p.R758X),both resulting in premature termination codons.The other patient carried two novel alterations,c.2886-1G>A and c.2752G>T(p.E918X).Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenicRECQL4 variants in two patients with RTS,thus expanding the mutational spectrum of RTS-II.We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.