Academic literature on the topic 'Sendai-han (Japan)'

Abstract We identified four distinct point mutations in homozygous pyruvate kinase (PK) variants in Japanese and Chinese patients with chronic nonspherocytic hemolytic anemia. All gene abnormalities were missense mutations that caused single amino acid substitutions. 1261A (Q421K) and 1436A (R436H), which were identified in PK Sendai and PK Shinshu, had been found in unrelated Japanese and Amish PK variants, respectively. The clinical severity and extremely low residual erythrocyte PK activity of PK Shinshu as well as of the Amish PK might be caused partly by aberrant splicing, because the 1436A mutation changes a nucleotide at the last nucleotide in the exon 10. Recently, we diagnosed a 42-year-old Japanese woman with chronic nonspherocytic hemolytic anemia as having a homozygous PK deficiency. DNA sequencing of the variant PK gene showed a homozygous missense mutation at 1403GCT- ->GTT, resulting in a single amino acid substitution from 468la-->Val. The gene mutation is likely to impair the allostericity of this enzyme, speculated from the tertiary structure. A homozygous missense mutation in PK Hong Kong, a boy of a non-Han southern Chinese minority group, was identified in exon 7 of the human L-PK gene, 941ATT-->ACT, resulting in a single amino acid substitution from 314lle-->Thr. The R- PK activity is expected to be severely affected, because the mutated amino acid residue is located between the 313 Lys and the 315 Glu, which are very important for acid-base catalysis and magnesium binding, respectively. Both the R- and M2-type PK were shown by polyacrylamide gel electrophoresis of the PK Hong Kong erythrocyte lysate, and this is the first report of a homozygous individual whose erythrocytes contain the immature (M2)-type isozyme.

We identified four distinct point mutations in homozygous pyruvate kinase (PK) variants in Japanese and Chinese patients with chronic nonspherocytic hemolytic anemia. All gene abnormalities were missense mutations that caused single amino acid substitutions. 1261A (Q421K) and 1436A (R436H), which were identified in PK Sendai and PK Shinshu, had been found in unrelated Japanese and Amish PK variants, respectively. The clinical severity and extremely low residual erythrocyte PK activity of PK Shinshu as well as of the Amish PK might be caused partly by aberrant splicing, because the 1436A mutation changes a nucleotide at the last nucleotide in the exon 10. Recently, we diagnosed a 42-year-old Japanese woman with chronic nonspherocytic hemolytic anemia as having a homozygous PK deficiency. DNA sequencing of the variant PK gene showed a homozygous missense mutation at 1403GCT- ->GTT, resulting in a single amino acid substitution from 468la-->Val. The gene mutation is likely to impair the allostericity of this enzyme, speculated from the tertiary structure. A homozygous missense mutation in PK Hong Kong, a boy of a non-Han southern Chinese minority group, was identified in exon 7 of the human L-PK gene, 941ATT-->ACT, resulting in a single amino acid substitution from 314lle-->Thr. The R- PK activity is expected to be severely affected, because the mutated amino acid residue is located between the 313 Lys and the 315 Glu, which are very important for acid-base catalysis and magnesium binding, respectively. Both the R- and M2-type PK were shown by polyacrylamide gel electrophoresis of the PK Hong Kong erythrocyte lysate, and this is the first report of a homozygous individual whose erythrocytes contain the immature (M2)-type isozyme.

A lo largo de su historia Japón ha sufrido numerosos desastres, lo cual le ha llevado a desarrollar una cultura de prevención del riesgo de desastres y reducción de sus consecuencias. La definición de estrategias, la gestión del conocimiento adquirido a través de la experiencia, y el desarrollo de tecnologías para afrontar los desastres han convertido a esta nación en el referente internacional en materia de reducción del riesgo de desastres (RRD), mientras que su aportación conceptual ha permitido desarrollar una auténtica cultura de prevención del riesgo, frente al anterior enfoque en la recuperación post-desastre. Desde la década de 1980 Japón viene promoviendo la cooperación internacional en la reducción de riesgos de desastres utilizando dos estrategias. La primera a través del papel de liderazgo que el país ha asumido en materia de RRD en los foros internacionales, especialmente en el seno de la ONU, lo que le ha llevado a organizar en su territorio las tres Conferencias Mundiales sobre la Reducción del Riesgo de Desastres, de las que han salido tres documentos de referencia en la materia, el último de ellos el Marco de Sendai de 2015. El segundo pilar es su política internacional de cooperación al desarrollo, basada en el concepto de seguridad humana y canalizada a través de sus programas de ayuda oficial al desarrollo gestionados por la Agencia Japonesa de Cooperación Internacional (JICA). Todas estas acciones de RRD están alineadas con los Objetivos de Desarrollo Sostenible (ODS) y la lucha contra el cambio climático.