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trisomy 18: A Difficult Decision for the Family

Open Journal of Pediatrics 2016年第1期6卷 136-140页

作者： Atiye Fedakâr Seval Eren Elif Özbey Akan Selahattin Semiz The Departments of Pediatrics Afiyet Hospital Istanbul Turkey The Departments of Radiology Afiyet Hospital Istanbul Turkey

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.

关键词： trisomy 18 Prenatal Diagnosis

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Management of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene

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World Journal of Gastroenterology 2017年第33期23卷 6155-6163页

作者： Masaya Iwamuro Ryuta Takenaka Masahiro Nakagawa Yuki Moritou Shunsuke Saito Shinichiro Hori Tomoki Inaba Yoshinari Kawai Tatsuya Toyokawa Takehiro Tanaka Tadashi Yoshino Hiroyuki Okada Department of Gastroen-terology and Hepatology Okayama University Graduate School of MedicineDentistryand Pharmaceutical Sciences Department of Internal Medicine Tsuyama Chuo Hospital Department of Internal Medicine Hiroshima City Hospital Department of Gastroenterology Mitoyo General Hospital Department of Internal Medicine Okayama Saiseikai General Hospital Department of Gastroenterology Shikoku Cancer Center Department of Gastroenterology Kagawa Prefectural Central Hospital Department of Gastroenterology Onomichi Municipal Hospital Department of Gastroenterology Fukuyama Medical Center Department of Pathology Okayama University Hospital Department of Pathology Okayama University Graduate School of MedicineDentistryand Pharmaceutical Sciences

AIM To identify the clinical features of gastric mucosaassociated lymphoid tissue(MALT) lymphoma with extra copies of *** 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 *** 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.

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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Analysis of prenatal screening situation in Sichuan area from 2007 to 2009

Analysis of prenatal screening situation in Sichuan area fro...

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2011中国妇产科学术会议暨浙江省计划生育与生殖医学学...

作者： GONG Yun-Hui,ZHOU Rong,ZHANG Xun,LI Tian-Lun,YUAN Li-Xin,HE Bin,HAN Dai-Wen,TANG Jun,ZHOU Fen-e,QIU Dong-Shen,WANG He West China Second University Hospital,Sichuan University/Prenatal Diagnosis Center of Sichuan Province

Objective To analyses the prenatal screening situation in Sichuan area. Methods The concentrations of AFP,freeβhCG and uE3 in the serum of mid-trimester(15-20 weeks pregnancy) pregnant women were *** risk of Down syndrome,trisomy 18 and Nervous tube defect were evaluated by using the risk evaluation software. Results In the three years,the total rate of prenatal screening was 5.08%.Among the high risk and low risk pregnant women,the total positive rate was 23.68%and 8.59%*** the high risk group,the positive rate of Down syndrome,trisomy 18 and Nervous tube defect was 21.46%,0.96%and 1.26%respectively;in the low risk group it was 7.34%,0.13%and 1.11%,respectively. Conclusion As the second level intervention measure of birth defect,prenatal screening plays an important role in decreasing birth defect rate,but it should be further popularized.

关键词： Prenatal screening Down syndromes trisomy 18 Nervous tube defect

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