RESUMEN
<p><b>OBJECTIVE</b>To detect potential mutation in a family affected with congenital dyserythropoietic anemia type II (CDA II).</p><p><b>METHODS</b>Targeted sequence capture and next-generation sequencing (NGS) were used to analyze the exons and exon-intron boundaries of the SEC23B gene in a clinically suspected CDA II patient. Genotypes of the relatives were validated by Sanger sequencing. Potential impact of amino acid substitution on the structure and function of SEC23B protein was predicted with MutationTaster and PolyPhen-2. The protein structure was predicted with SWISS-MODEL software.</p><p><b>RESULTS</b>The proband was found to harbor double heterozygous mutations of the SEC23B gene, c.1727T>C (p.F576S) and c.1831C>T (p.R611W), which resulted in amino acid substitutions p.F576S and p.R611W. Both mutations were confirmed by Sanger sequencing. The sister of the proband was found to have carried c.1727T>C (p.F576S), while her father and son have carried c.1831C>T (p.R611W) mutation. In addition, the proband was detected to have carried c.211C>T (p.R71X) of the HFE gene, which resulted in substitution of arginine by a stop codon. The impact of above mutations on the structure or function of protein was predicted to be harmful. Splenectomy and iron chelation therapy have achieved effective improvement of anemia and iron overload. Computer simulation suggested that the mutations have altered the 3D structure of the SEC23B protein.</p><p><b>CONCLUSION</b>The novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the CDA II in the family, and there is a strong correlation between the genotype and phenotype.</p>
Asunto(s)
Adulto , Femenino , Humanos , Anemia Diseritropoyética Congénita , Genética , Simulación por Computador , Familia , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Fenotipo , Proteínas de Transporte Vesicular , GenéticaRESUMEN
@#Objective To observe the effects of Dong's Extraordinary Acupoints acupuncture and rehabilitation on upper limb spastic hemiplegia after stroke. Methods 105 patients with upper limb spastic hemiplegia after stroke were randomized into 3 groups as groups A, B, C equally, and receiving Baclofen and rehabilitation training, acupuncture at Dong's Extraordinary Acupoints, and both acupuncture at Dong's Extraordinary Acupoints and rehabilitation training for 8 weeks, respectively. They were assessed with China Stroke Scale (CSS) and modified Ashworth Scale (MAS) before and after treatment Results The CSS and MAS scores obviously improved after treatment in each group (P<0.01), and improved more in the group C than in the group A and B for CSS (P<0.05). Conclusion Both acupuncture at Dong's Extraordinary Acupoints and rehabilitation can improve the neural function and upper limb muscle tension in patients with upper limb spastic hemiplegia after stroke, with the synergistic effects.
RESUMEN
Objective To observe the effects of Dong's Extraordinary Acupoints acupuncture and rehabilitation on upper limb spastic hemiplegia after stroke. Methods 105 patients with upper limb spastic hemiplegia after stroke were randomized into 3 groups as groups A, B, C equally, and receiving Baclofen and rehabilitation training, acupuncture at Dong's Extraordinary Acupoints, and both acupuncture at Dong's Extraordinary Acupoints and rehabilitation training for 8 weeks, respectively. They were assessed with China Stroke Scale (CSS) and modified Ashworth Scale (MAS) before and after treatment Results The CSS and MAS scores obviously improved after treatment in each group (P<0.01), and improved more in the group C than in the group A and B for CSS (P<0.05). Conclusion Both acupuncture at Dong's Ex-traordinary Acupoints and rehabilitation can improve the neural function and upper limb muscle tension in patients with upper limb spastic hemiplegia after stroke, with the synergistic effects.