Trisomy 18 (Edwards Syndrome) was first reported in 1960 by Edward et al. in a newborn with multiple abnormalities, and is a broad clinical presentation involving more than 130 different abnormalities. Most cases die ...Trisomy 18 (Edwards Syndrome) was first reported in 1960 by Edward et al. in a newborn with multiple abnormalities, and is a broad clinical presentation involving more than 130 different abnormalities. Most cases die during the embryonic or fetal life. Only 5% - 10% of the live-born cases survive the first year of life. Prenatal diagnosis is possible. However, the prenatal detection compels parents to make a difficult decision. After the birth of the baby, it also places a material and moral burden on both the family and the national economy due to multiple congenital abnormalities and limited lifespan. On the other hand, pediatricians experience difficulties in making a decision on interventions, especially cardiac surgery and resuscitation, due to the comorbid abnormalities in the neonatal intensive care units, in which medical ethics arises for discussion. The current study presents a case diagnosed with trisomy 18 by chromosome analysis, who was found to have multiple abnormalities with ultrasonography (USG) during the prenatal period and born because the patient’s mother, who was advised to have amniocentesis, decided to continue with the pregnancy.展开更多
AIM To identify the clinical features of gastric mucosaassociated lymphoid tissue(MALT) lymphoma with extra copies of MALT1.METHODS This is a multi-centered,retrospective study. We reviewed 146 patients with MALT lymp...AIM To identify the clinical features of gastric mucosaassociated lymphoid tissue(MALT) lymphoma with extra copies of MALT1.METHODS This is a multi-centered,retrospective study. We reviewed 146 patients with MALT lymphoma in the stomach who underwent fluorescence in situ hybridization analysis for t(11;18) translocation. Patients were subdivided into patients without t(11;18) translocation or extra copies of MALT1(Group A,n = 88),patients with t(11;18) translocation(Group B,n = 27),and patients with extra copies of MALT1(Group C,n = 31). The clinical background,treatment,and outcomes of each group were investigated.RESULTS Groups A and C showed slight female predominance,whereas Group B showed slight male predominance. Mean ages and clinical stages at lymphoma diagnosis were not different between groups. Complete response was obtained in 61 patients in Group A(69.3%),22 in Group B(81.5%),and 21 in Group C(67.7%). Helicobacter pylori(H. pylori) eradication alone resulted in complete remission in 44 patients in Group A and 13 in Group C. In Group B,14 patients underwent radiotherapy alone,which resulted in lymphoma disappearance. Although the difference was not statistically significant,event-free survival in Group C tended to be inferior to that in Group A(P = 0.10).CONCLUSION Patients with t(11;18) translocation should be treated differently from others. Patients with extra copies of MALT1 could be initially treated with H. pylori eradication,similar to patients without t(11;18) translocation or extra copies of MALT1.展开更多
文摘Trisomy 18 (Edwards Syndrome) was first reported in 1960 by Edward et al. in a newborn with multiple abnormalities, and is a broad clinical presentation involving more than 130 different abnormalities. Most cases die during the embryonic or fetal life. Only 5% - 10% of the live-born cases survive the first year of life. Prenatal diagnosis is possible. However, the prenatal detection compels parents to make a difficult decision. After the birth of the baby, it also places a material and moral burden on both the family and the national economy due to multiple congenital abnormalities and limited lifespan. On the other hand, pediatricians experience difficulties in making a decision on interventions, especially cardiac surgery and resuscitation, due to the comorbid abnormalities in the neonatal intensive care units, in which medical ethics arises for discussion. The current study presents a case diagnosed with trisomy 18 by chromosome analysis, who was found to have multiple abnormalities with ultrasonography (USG) during the prenatal period and born because the patient’s mother, who was advised to have amniocentesis, decided to continue with the pregnancy.
文摘AIM To identify the clinical features of gastric mucosaassociated lymphoid tissue(MALT) lymphoma with extra copies of MALT1.METHODS This is a multi-centered,retrospective study. We reviewed 146 patients with MALT lymphoma in the stomach who underwent fluorescence in situ hybridization analysis for t(11;18) translocation. Patients were subdivided into patients without t(11;18) translocation or extra copies of MALT1(Group A,n = 88),patients with t(11;18) translocation(Group B,n = 27),and patients with extra copies of MALT1(Group C,n = 31). The clinical background,treatment,and outcomes of each group were investigated.RESULTS Groups A and C showed slight female predominance,whereas Group B showed slight male predominance. Mean ages and clinical stages at lymphoma diagnosis were not different between groups. Complete response was obtained in 61 patients in Group A(69.3%),22 in Group B(81.5%),and 21 in Group C(67.7%). Helicobacter pylori(H. pylori) eradication alone resulted in complete remission in 44 patients in Group A and 13 in Group C. In Group B,14 patients underwent radiotherapy alone,which resulted in lymphoma disappearance. Although the difference was not statistically significant,event-free survival in Group C tended to be inferior to that in Group A(P = 0.10).CONCLUSION Patients with t(11;18) translocation should be treated differently from others. Patients with extra copies of MALT1 could be initially treated with H. pylori eradication,similar to patients without t(11;18) translocation or extra copies of MALT1.
