小狗阅读会员会员
有解析的医学SCI阅读工具

扫码登录小狗阅读

阅读SCI医学文献

Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.

全基因组和节段性纯合子确认减数分裂错误是卵巢甲状腺肿的病因。

  • 影响因子:1.67
  • DOI:10.1159/000504908
  • 作者列表:"Henderson BB","Chaubey A","Roth LM","Robboy SJ","Tarasidis G","Jones JR","Sundermann JM","Chou J","Craddock AL","Stevenson L","Friez MJ","Kincaid EH","Stevenson RE
  • 发表时间:2020-01-01
Abstract

:Strumae ovarii are neoplasms composed of normal-appearing thyroid tissue that occur within the ovary and rarely spread to extraovarian sites. A unique case of struma ovarii with widespread dissemination detected 48 years after removal of a pelvic dermoid provided the opportunity to reexamine the molecular nature of this form of neoplasm. One tumor, from the heart, consisting of benign thyroid tissue was found to have whole-genome homozygosity. Another tumor from the right mandible composed of malignant-appearing thyroid tissue showed whole-genome homozygosity and a deletion of 7p, presumably the second hit that transformed it into a cancerous tumor. Specimens from 2 other cases of extraovarian struma confined to the abdomen and 8 of 9 cases of intraovarian struma showed genome-wide segmental homozygosity. These findings confirm errors in meiosis as the origin of struma ovarii. The histological and molecular findings further demonstrate that even when outside the ovary, strumae ovarii can behave nonaggressively until they receive a second hit, thereafter behaving like cancer.

摘要

: 卵巢甲状腺肿是由正常甲状腺组织组成的肿瘤,发生在卵巢内,很少扩散到卵巢外部位。在切除盆腔皮样瘤 48 年后发现了一例独特的广泛播散的卵巢甲状腺肿病例,为重新检查这种肿瘤的分子性质提供了机会。发现一个来自心脏的由良性甲状腺组织组成的肿瘤具有全基因组纯合性。另一种来自右下颌骨的肿瘤由恶性甲状腺组织组成,显示全基因组纯合子和 7p缺失,推测是第二次击中将其转化为癌性肿瘤。其他 2 例局限于腹部的卵巢外甲状腺肿和 9 例卵巢内甲状腺肿中的 8 例标本显示全基因组节段性纯合。这些发现证实了减数分裂的错误是卵巢甲状腺肿的起源。组织学和分子学研究结果进一步证明,即使在卵巢外,卵巢甲状腺肿也可以表现为非侵袭性,直到受到第二次打击,此后表现为癌症。

下载该文献
小狗阅读

帮助医生、学生、科研工作者解决SCI文献找不到、看不懂、阅读效率低的问题。提供领域精准的SCI文献,通过多角度解析提高文献阅读效率,从而使用户获得有价值研究思路。

相关文献
影响因子:1.32
发表时间:2020-01-01
DOI:10.1016/j.bjps.2019.05.033
作者列表:["Denadai R","Seo HJ","Lo LJ"]

METHODS:BACKGROUND:The anterior oronasal fistulae neighboring the alveolar cleft could persist or reappear after the alveolar reconstruction with cancellous bone grafting. The persistent symptomatic anterior oronasal fistulae need to be repaired, but surgery remains a challenge in cleft care. Surprisingly, this issue has rarely been reported in the literature. The purpose of this long-term study was to report a single surgeon experience with a therapeutic protocol for persistent symptomatic anterior oronasal fistula repair. METHODS:This is a retrospective study of consecutive patients with Veau type III and IV clefts and persistent symptomatic anterior oronasal fistulae managed according to a therapeutic protocol from 1997 to 2018. Depending on fistula size, patients were treated with local flaps associated with an interpositional graft or two-stage tongue flaps (small/medium or large fistulae, respectively). The surgical outcomes were classified as "good" (complete fistula closure with no symptoms), "fair" (asymptomatic narrow fistula remained), or "poor" (failure with persistent symptoms). RESULTS:Forty-four patients with persistent symptomatic anterior oronasal fistulae were reconstructed with local flaps associated with interpositional fascia or dermal fat grafting (52.3%) or two-stage tongue flaps (47.7%). Most of patients (93.2%) presented "good" outcomes, ranging from 87% to 100% (local and tongue flaps, respectively). Three (6.8%) patients presented symptomatic residual fistula ("poor" outcomes). CONCLUSIONS:For the repair of persistent symptomatic anterior oronasal fistulae, this therapeutic protocol provided satisfactory outcome with low fistula recurrence rate.

翻译标题与摘要 下载文献
影响因子:2.49
发表时间:2020-03-01
DOI:10.1136/archdischild-2019-316804
作者列表:["Cleary B","Loane M","Addor MC","Barisic I","de Walle HEK","Matias Dias C","Gatt M","Klungsoyr K","McDonnell B","Neville A","Pierini A","Rissmann A","Tucker DF","Zurriaga O","Dolk H"]

METHODS:OBJECTIVE:Methadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS. DESIGN/SETTING:This case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995-2011. PATIENTS:Cases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks' gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview. RESULTS:Among 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1-12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2). CONCLUSIONS:These findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk-benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.

翻译标题与摘要 下载文献
影响因子:0.73
发表时间:2020-01-01
DOI:10.1097/SCS.0000000000005693
作者列表:["Jahanbin A","Eslami N","Torkamanzadeh N"]

METHODS::Orthopedic treatment to improve deficient maxillary growth of cleft lip and palate patients is an important part of treatment. The success of this treatment is strongly dependent on the time of initiation of therapy. There has been a large controversy in the available literature regarding the skeletal age of these patients. The aim of the present study was to compare the skeletal age of cleft lip and palate patients with normal individuals.37 unilateral and 14 bilateral cleft lip and palate patients and 47 healthy individuals participated in this cross-sectional study. The patients were classified into 8 to 10 and 11 to 14-year-old individuals. Cervical vertebral maturational stage of participants was evaluated in the lateral cephalometry. The skeletal age of cleft lip and palate patients was compared with normal controls. Chi-square was used for statistical analysis. There was not a significant difference in the skeletal developmental stage of unilateral and bilateral cleft compared to their normal peers according to their age and sex. Also, significant difference in skeletal maturational stage of cleft lip and palate patients was not found between boys and girls (P = 0.8). Similarly, no significant difference was found in the skeletal age of the 3 studied groups without considering the age and sex of participants (P = 0.5). Regarding the similar skeletal maturational stage of cleft lip and palate patients with normal controls in our study, their maxillofacial orthopedic treatment can be initiated at similar time to normal peers.

关键词: 暂无
翻译标题与摘要 下载文献
颌部疾病方向

颌部的疾病,包括颌畸形、颌骨囊肿、颌骨肿瘤等疾病。

复制标题
发送后即可在该邮箱或我的下载查看该文献
发送
该文献默认存储到我的下载

科研福利

报名咨询

建议反馈
问题标题:
联系方式:
电子邮件:
您的需求: