Pregnancy following oocyte donation in a woman with Noonan’s syndrome and a balanced Robertsonian translocation a case report

Successful pregnancy in Noonan’s syndrome and balanced Robertsonian translocation women is extremely rare. This is because pregnancies in these women usually end in spontaneous miscarriage or termination before 24 weeks gestation due to severe congenital anomaly. In this article, we report the case of a 41-years-old woman with Noonan’s syndrome and balanced Robertsonian translocation. She was delivered by an elective caesarean section at 38 weeks of a live male infant following a second attempt of in vitro fertilisation (IVF) and embryo transfer from donor oocytes. The use of donor eggs and IVF in these women means more of them will achieve successful term pregnancy as in this case. It is therefore important that Obstetricians understand this rare condition and optimise care. This case highlights some of the medical problems encountered by Obstetricians in managing patients in this high risk group.     

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations

Purpose To provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocations. Materials and methods Meiotic segregation behavior in spermatozoa from six carriers of Rob translocations, four t(13;14), one t(14;22) and one t(13;21), was investigated by dual fluorescence in-situ hybridization (FISH). Aneuploidy for chromosomes 18, X and Y was studied by triple FISH. Results The rate of normal/balanced spermatozoa resulting from alternate segregation ranged from 78.14 to 86.88%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 11.70 and 19.53%. The higher frequencies of aneuploidy for sex chromosome were observed in three Rob translocation carriers. In addition, the increased rates of diploid were found in two t(13;14) carriers. Conclusions Alternate segregation is dominant in the different types of Rob translocations. Some carriers may be at an increased risk for ICE. Electronic Supplementary Material The online version of this article (doi:) contains supplementary material, which is available to authorized users. An increased aneuploidy for sex chromosome observed in three Robertsonian translocation carriers suggests that an interchromosomal effect is likely in some carriers.     

A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports

Purpose To investigate the clinical application of fluorescence in situ hybridization (FISH) for assessing chromosome disorders of embryos in preimplantation diagnosis of carriers with der(15)t(Y;15)(q12;p11) translocations. Methods Multicolor FISH was performed using directly-labelled DNA probes, chromosome X with one (DXZ1, Xp11.1-q11.1), but Y with two (DYZ3, Yp11.1-q11.1 and DYZ1, Yq12). Normal embryos were transferred on day 6 at blastocyst stage. Results Couple A: Three of 6 biopsied embryos were normal. Two normal blastocysts were transferred, but no pregnancy was achieved. Couple B: Three of 6 biopsied embryos were normal. Two normal blastocysts were transferred. A normal male infant weighing 3,230 g was born by cesarean section on the 39th week of gestation. All of the remaining nonreplaced embryos showed mosaic or der(15). Conclusion Embryos from carries of der(15)t(Y;15)(q12;p11) translocation showed a high frequency of chromosome abnormalities. PGD is a valuable screen tool for those couples to treat their infertility and break the transmission of der(15) chromosome for their offspring.     

一氧化氮对内毒素血症大鼠肠道损伤及细菌移位的影响

目的 一氧化氮（NO）参与休克的血管扩张,血压下降,但它对组织损伤,特别是肠道的损伤及细菌移位的作用仍不十分清楚。本实验以NO合酶（NOS）底物左旋精氨酸及其抑制剂硝基左旋精氨酸（LNNA）为工具,观察NO对内毒素血症时大鼠肠道损伤及细菌移位的影响。方法 用内毒素（LPS,10mg/kg,ip）复制内毒素血症模型,给予LNNA或L-arg抑制或促进NO合成,测定肠道质过氧化物丙二醛（MDA)的含量,二胺氧化酶（DAD）活性及肠系膜淋巴结细菌培养。结果 LPS可降低肠细胞DAO活性,增加MDA含量和肠系膜淋巴细菌移位的发生率和细菌数量;用LNNA抑制NO后可加重LPS的上述作用,而给予L－arg促进NO合成则可减轻LPS的作用。结论 本实验结果表明在内毒素血症时,抑制NO可加重肠道损伤和细菌移位的发生,提示NO对肠组织有一定的保护作用。     

白癜风患者皮损处核因子E2p45相关因子2核转位异常

目的 明确白癜风患者皮损处是否存在核因子E2p45相关因子2(Nrf2)核转位异常.方法 应用试剂盒检测8例表皮移植白癜风患者皮损处与正常供皮处疱液中超氧化物歧化酶(SOD)、丙二醛(MDA)和过氧化氢酶(CAT)水平,采用细胞免疫荧光组化法鉴定8例寻常型白癜风患者皮损处与正常供皮处表皮细胞以及3例健康对照包皮原代培养的表皮细胞中Nrf2的表达,同时应用蛋白质印迹法检测上述样本中表皮细胞的胞质和胞核中Nrf2的表达水平.结果 皮损处SOD与CAT水平显著低于正常供皮处(P＜0.05),MDA水平显著高于正常供皮处(P＜0.05);细胞免疫荧光结果显示,健康对照、患者正常供皮处Nrf2在表皮细胞的胞质和胞核中均有表达,而患者皮损处Nrf2表达主要集中在胞质,胞核中表达量非常低.蛋白质印迹结果显示,核蛋白中Nrf2表达水平,白癜风患者皮损处(0.11±0.03)明显低于正常供皮处(0.27±0.06)和健康对照(0.32±0.02,均P＜0.01);胞质蛋白Nrf2表达水平,皮损处(0.63±0.04)与正常供皮处(0.61±0.03)和健康对照(0.65±0.04)差异无统计学意义(均P＞0.05).结论 白癜风患者皮损处表皮细胞存在Nrf2核转位异常.     

翼状胬肉切除加自体结膜转位术与单纯切除的疗效观察

目的观察翼状胬肉逆行切除加自体结膜转位术防止胬肉复发的临床疗效。方法逆行将翼状胬肉头部自角膜上分离,向泪阜方向及上下钝性分离结膜及其下方增生变性组织,直至近半月皱襞处,全部切除胬肉。转位相邻带干细胞的自体结膜于巩膜裸露区。结果40例46只眼的翼状胬肉患者的角膜上皮、结膜上皮缺损区均在术后1~2 d全部愈合,随访8~16个月,1例复发。结论翼状胬肉逆行切除加自体结膜转位术简单易操作,并可较大程度地降低胬肉术后复发率。     

早期肠道喂养对烫伤大鼠肠道细菌移位的影响

目的观察早期肠道喂养对烫伤大鼠肠道细菌移位的影响. 方法设计早期肠道喂养和延迟肠道喂养动物模型,取大鼠伤后6、12、24、48、72 h肝脏组织、肠系膜淋巴结作细菌培养,并测定肠道组织二胺氧化酶(DAO)活性,动态观察三者的变化并进行统计学分析.结果两组大鼠肠系膜淋巴结、肝脏组织均发生细菌移位和肠道组织二胺氧化酶(DAO)活性下降,延迟喂养大鼠移位细菌数量显著多于早期肠道喂养大鼠(P＜0.05),肠道组织二胺氧化酶(DAO)活性较早期喂养大鼠显著下降(P＜0.05);相关性分析发现,肝脏组织和肠系膜淋巴结细菌移位具有显著正相关关系(P＜0.01),二者与肠道组织二胺氧化酶(DAO)活性具有显著负相关关系(二者P＜0.01).结论烫伤大鼠延迟肠道喂养较早期肠道喂养容易发生肠黏膜损伤和肠道细菌移位且严重.     

桡侧屈腕肌腱瓣转位术治疗下尺桡关节脱位的护理

目的探讨桡侧屈腕肌腱瓣转位治疗下尺桡关节脱位的护理措施。方法采用桡侧屈腕肌腱瓣转位重建下尺桡关节稳定术20例。术前进行心理疏导,皮肤准备,术后严密观察,分阶段功能锻炼指导。结果20例全部得到随访,时间1～10年,平均2．5年。根据Sarmiento功能评分,优12例,良6例,一般2例;优良率90％。结论在配合该术式过程中,手术前的心理护理、石膏固定护理、饮食指导及术后患肢血供的观察、患肢肿胀情况的观察、并发症的观察和护理、功能锻炼的指导等促进了患者的恢复。