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Trisomy 18: A Difficult Decision for the Family
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作者 Atiye Fedakâr Seval Eren +1 位作者 Elif Özbey Akan Selahattin Semiz 《Open Journal of Pediatrics》 2016年第1期136-140,共5页
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
关键词 trisomy 18 Prenatal Diagnosis
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Complete or partial trisomy 3 in gastro-intestinal MALT lymphomas co-occurs with aberrations at 18q21 and correlates with advanced disease stage:A study on 25 cases 被引量:2
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作者 Jens Krugmann Alexandar Tzankov +5 位作者 Stephan Dirnhofer Falko Fend Dominik Wolf Reiner Siebert Pensiri Probst Martin Erdel 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第46期7384-7385,共2页
Taji et al . have reported in their study on 13 patients with gastric mucosa-associated lymphoid tissue (MALT) lymphomas an aggressive tumor course in trisomy 3 positive cases. The authors analyzed only stage I pat... Taji et al . have reported in their study on 13 patients with gastric mucosa-associated lymphoid tissue (MALT) lymphomas an aggressive tumor course in trisomy 3 positive cases. The authors analyzed only stage I patients with classical low-grade marginal zone lymphoma of the MALT type and detected the trisomy 3 using an alphasatellite DNA probe directed to the centromere. Their data support the observation that trisomy 3 is the most frequent cytogenetic aberration in MALT lymphomas . 展开更多
关键词 MALT lymphoma trisomy 3 trisomy 18
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Management of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene 被引量:3
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作者 Masaya Iwamuro Ryuta Takenaka +9 位作者 Masahiro Nakagawa Yuki Moritou Shunsuke Saito Shinichiro Hori Tomoki Inaba Yoshinari Kawai Tatsuya Toyokawa Takehiro Tanaka Tadashi Yoshino Hiroyuki Okada 《World Journal of Gastroenterology》 SCIE CAS 2017年第33期6155-6163,共9页
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
关键词 Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue Gastric neoplasms ESOPHAGOGASTRODUODENOSCOPY t(11 18) translocation trisomy 18
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