Transposition

换位
  • 文章类型: Case Reports
    背景:舌根异位甲状腺是一种罕见的先天性疾病,更罕见的是有临床症状,需要手术干预。本病术前容易误诊。这篇文章报告了诊断,手术治疗,并随访1例舌部甲状腺。
    方法:患者是一名54岁女性,出现喉部异物感和吞咽困难20d。舌部甲状腺考虑进行一般检查,并进行手术以将舌侧甲状腺转位至右侧颌下区。病理分析证实为甲状腺组织。患者在手术后经历了完全缓解,但是出现了甲状腺功能减退,需要甲状腺激素替代疗法,随着时间的推移,她的甲状腺功能逐渐恢复。
    结论:我们报告了一例罕见的舌部甲状腺伴明显的喉异物感和吞咽困难。转位手术后症状完全缓解,但术后出现甲状腺功能减退。
    BACKGROUND: Ectopic thyroid at the base of the tongue is a rare congenital condition, and it is even rarer to have clinical symptoms and require surgical intervention. This disease is easily misdiagnosed preoperatively. This article reports the diagnosis, surgical treatment, and follow-up of a case of lingual thyroid.
    METHODS: The patient was a 54-year-old woman who presented with laryngeal foreign body sensation and dysphagia for 20 d. The lingual thyroid was considered for general examination, and surgery was performed to transpose the lingual thyroid to the right submaxillary region. Pathological analysis confirmed thyroid tissue. The patient experienced complete remission after surgery, but developed hypothyroidism and required thyroid hormone replacement therapy, and her thyroid function gradually recovered over time.
    CONCLUSIONS: We report a rare case of lingual thyroid with marked laryngeal foreign body sensation and dysphagia. Symptoms were completely relieved by transposition surgery but postoperative hypothyroidism developed.
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  • 文章类型: Journal Article
    背景:面肌痉挛(HFS)是微血管减压术(MVD)最有效的治疗方法。然而,当椎动脉(VA)参与压迫面神经(VA参与)时,HFS的MVD存在一定的挑战.本研究旨在介绍一种治疗VA累及HFS患者的“桥式分层”减压技术,并评估其治疗HFS患者的疗效和安全性。
    方法:对62例VA累及HFS患者的临床资料进行单中心回顾性分析。通过多点“桥”减压技术抬起VA的曲折躯干,以避免小脑的过度牵引并降低面听神经复合体受损的风险。对所有负责的船只进行全面减压,然后使用“分层”减压技术分离VA的分支血管。
    结果:在62例患者中,59例患者在手术后立即治愈,两个月后,两名患者延迟治愈,其中一人在手术后偶尔出现面部肌肉抽搐。患者平均随访19.5个月。长期随访结果显示,所有患者在随访期间均无HFS复发,没有病人出现听力损失,面瘫,或其他永久性神经损伤并发症。手术后只有两名患者出现耳鸣。
    结论:“桥分层”减压技术可有效治疗VA累及的HFS,安全性满意,听力损失风险低。该技术可为VA累及HFS的减压手术提供参考。
    BACKGROUND: Hemifacial spasm (HFS) is most effectively treated with microvascular decompression (MVD). However, there are certain challenges in performing MVD for HFS when the vertebral artery (VA) is involved in compressing the facial nerve (VA-involved). This study aimed to introduce a \"bridge-layered\" decompression technique for treating patients with VA-involved HFS and to evaluate its efficacy and safety to treat patients with HFS.
    METHODS: A single-center retrospective analysis was conducted on the clinical data of 62 patients with VA-involved HFS. The tortuous trunk of VA was lifted by a multi-point \"bridge\" decompression technique to avoid excessive traction of the cerebellum and reduce the risk of damage to the facial-acoustic nerve complex. To fully decompress all the responsible vessels, the branch vessels of VA were then isolated using the \"layered\" decompression technique.
    RESULTS: Among the 62 patients, 59 patients were cured immediately after the surgery, two patients were delayed cured after two months, and one had occasional facial muscle twitching after the surgery. Patients were followed up for an average of 19.5 months. The long-term follow-up results showed that all patients had no recurrence of HFS during the follow-up period, and no patients developed hearing loss, facial paralysis, or other permanent neurological damage complications. Only two patients developed tinnitus after the surgery.
    CONCLUSIONS: The \"bridge-layered\" decompression technique could effectively treat VA-involved HFS with satisfactory safety and a low risk of hearing loss. The technique could be used as a reference for decompression surgery for VA-involved HFS.
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  • 文章类型: Journal Article
    一系列“分子驯化”事件被认为已将无脊椎动物RAG样(RAGL)转座酶转化为RAG1-RAG2(RAG)重组酶,下颚脊椎动物适应性免疫的关键酶。这些事件的时间和顺序还没有得到很好的理解,部分原因是缺乏有关无脊椎动物RAGL-A转座子家族的信息。与丰富且分散的RAGL-B转座子家族相反,RAGL-A最类似于RAG,并且在半鱼鳞状黄牛(PflRAG1L-A)的基因组中由单个孤儿RAG1样(RAG1L)基因代表。这里,我们提供了在P.flava和几种棘皮动物基因组中存在完整RAGL-A转座子的证据。这些转座子编码的预测的RAG1L-A和RAG2L-A蛋白混合了颌骨脊椎动物RAG和RAGL-B转座酶的序列特征,导致DNA结合的预测,催化,和转座活动是RAG和RAGL-B的杂种。同样,RAGL-A转座子的末端反向重复(TIR)组合了RAGL-B转座子TIR和RAG重组信号序列的特征。与之前描述的所有RAG2L蛋白不同,RAG2L-A蛋白含有酸性铰链区,我们证明能够有效抑制RAG介导的转座。我们的发现为RAG进化中的关键中间体提供了证据,并认为某些适应被认为是颌骨脊椎动物特有的(例如,RAG2酸性铰链)实际上出现在无脊椎动物中,从而将注意力集中在其他适应上,作为完成下颚脊椎动物RAG驯化的关键步骤。
    A series of \"molecular domestication\" events are thought to have converted an invertebrate RAG-like (RAGL) transposase into the RAG1-RAG2 (RAG) recombinase, a critical enzyme for adaptive immunity in jawed vertebrates. The timing and order of these events are not well understood, in part because of a dearth of information regarding the invertebrate RAGL-A transposon family. In contrast to the abundant and divergent RAGL-B transposon family, RAGL-A most closely resembles RAG and is represented by a single orphan RAG1-like (RAG1L) gene in the genome of the hemichordate Ptychodera flava (PflRAG1L-A). Here, we provide evidence for the existence of complete RAGL-A transposons in the genomes of P. flava and several echinoderms. The predicted RAG1L-A and RAG2L-A proteins encoded by these transposons intermingle sequence features of jawed vertebrate RAG and RAGL-B transposases, leading to a prediction of DNA binding, catalytic, and transposition activities that are a hybrid of RAG and RAGL-B. Similarly, the terminal inverted repeats (TIRs) of the RAGL-A transposons combine features of both RAGL-B transposon TIRs and RAG recombination signal sequences. Unlike all previously described RAG2L proteins, RAG2L-A proteins contain an acidic hinge region, which we demonstrate is capable of efficiently inhibiting RAG-mediated transposition. Our findings provide evidence for a critical intermediate in RAG evolution and argue that certain adaptations thought to be specific to jawed vertebrates (e.g. the RAG2 acidic hinge) actually arose in invertebrates, thereby focusing attention on other adaptations as the pivotal steps in the completion of RAG domestication in jawed vertebrates.
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  • 文章类型: Journal Article
    目的:在解剖学和组织学研究的基础上,探讨眼眶脂肪筋膜瓣在亚洲眼睑成形术中矫正上眼睑凹陷的临床应用。
    方法:通过尸体解剖和10具尸体的组织学切片观察眼眶脂肪及其筋膜血管的组织学结构。根据眼眶脂肪的解剖和组织学特点,采用保留筋膜血管蒂的眶脂肪筋膜瓣移位术矫正轻中度上眼睑凹陷36例。在操作过程中,眼眶脂肪中央脂肪团的外侧部分纵向分离,转移到凹陷的地方,以纠正凹陷的上眼睑。
    结果:解剖和组织学显示,眶脂肪位于提上睑膜的前层和眶隔的后层之间,并被许多纤维间隔分离成脂肪小叶。血管沿着眶脂肪小叶间隔由后向前移动,眼眶脂肪下的囊内血管丰富。临床结果表明,在术后9个月至18个月的随访中,有35例采用该方法矫正后的上眼睑凹陷形状明显改善。平均凹陷深度从术前6.2mm(±1.0mm)改善至末次随访时的2.2mm(±0.9mm),差异有统计学意义。仅1例单侧眼睑部分凹陷,行自体颗粒脂肪移植,术后效果满意。
    结论:眼眶脂肪筋膜瓣的纵向分离和保留筋膜血管蒂的转位能较好地纠正眼睑成形术中的上眼睑凹陷。长期效果稳定,值得临床推广。
    方法:本期刊要求作者为每篇文章分配一定程度的证据。对于这些循证医学评级的完整描述,请参阅目录或在线作者说明www。springer.com/00266.
    OBJECTIVE: To explore the clinical application of orbital fat fascia flap in the correction of sunken upper eyelid in Asian blepharoplasty based on anatomical and histological research.
    METHODS: Observe the histological structure of the orbital fat and its fascia vascularity through cadaver anatomy and histological sections of 10 cadavers. Based on the anatomical and histological characteristics of orbital fat, 36 patients with mild to moderate sunken upper eyelids were corrected by transposition of orbital fat fascia flap with preservation of fascia vascular pedicle. During the operation, the lateral part of the central cellulite of orbital fat was separated longitudinally and transferred to the sunken place to correct the sunken upper eyelid.
    RESULTS: Anatomy and histology show that the orbital fat was located between the anterior layer of the levator aponeurosis and the posterior layer of the orbital septum and was separated into fat lobules by many fibrous septa. The blood vessels move forward from back to front along the orbital fat interlobular septum, and the blood vessels in the capsule below the orbital fat are abundant. Clinical results showed that the shape of the sunken upper eyelid was significantly improved in 35 cases after correction with this method during the postoperative follow-up from 9 months to 18 months. The mean sunken depth improved from 6.2mm (±1.0 mm) preoperatively to 2.2mm (±0.9 mm) at the last follow-up with a statistical significance. And only 1 case had partial depression in the unilateral eyelid and received autologous granular fat transplantation with satisfactory postoperative results.
    CONCLUSIONS: The transposition of orbital fat fascia flap with longitudinal separation and preservation of fascia vascular pedicle can better correct the sunken upper eyelid during blepharoplasty, and the long-term effect is stable, which is worthy of clinical promotion.
    METHODS: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
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  • 文章类型: Journal Article
    在三个月的时间里,我们监测了与患者相关的超广谱β-内酰胺耐药大肠杆菌(ESBL-EC)的人群,工作人员,和广州重症监护室(ICU)的环境,中国。12个月后,从同一家医院获得了34个临床分离株。共对165株分离株进行了鉴定和全基因组测序,与24个分离物进行长读数测序。不同的群体包括59种不同序列类型(STs)的代表。ICU患者和环境分离株与工作人员分离株和临床分离株在很大程度上不同。我们观察到5例高度相似的分离株(0至13个单核苷酸多态性[SNP])是从不同的患者或床单位环境中获得的。该集合中的ESBL抗性主要由blaCTX-M基因赋予,在所有分离株的96.4%中发现。blaCTX-M基因的背景是多种多样的,位于多个染色体位置和各种质粒中。我们鉴定了携带blaCTX-M的质粒谱系,这些谱系存在于整个监测中的多个ST中,工作人员,和临床收藏。对ISEcp1-blaCTX-M换位单元的仔细检查揭示了它们传输的动力学,有证据表明可以从特定质粒谱系中获得blaCTX-M基因的染色体拷贝,以及blaCTX-M-55从ST1193染色体移动到小的可移动质粒。从接受美罗培南和哌拉西林-他唑巴坦治疗的患者中分离出的耐碳青霉烯的ST167菌株含有7个拷贝的blaCMY-146,似乎已被IS1扩增。我们的数据显示ESBL-EC菌株在ICU环境中的持久性和移动有限,但是我们观察到循环质粒谱系在塑造所检查人群的头孢菌素耐药格局中起着重要和持续的作用。重要性ESBL耐药性显著影响全球医院大肠杆菌感染的临床管理。重要的是要了解医院患者和工作人员携带的ESBL-EC人群的结构,他们在医院环境中坚持的能力,以及驱动ESBL抗性传播的移动基因的动力学。在我们为期3个月的研究中,在ICU环境中发现的ESBL-EC菌株与患者运输密切相关,但与工作人员中发现的菌株不同。然而,在ICU人群和1年后获得的临床分离株集合中发现了携带blaCTX-M基因的质粒谱系。通过检查他们的内容和背景,我们追踪了ICU人群中染色体和质粒携带的ISEcp1-blaCTX-M转座单位的最新历史。这些信息使我们能够在染色体blaCTX-M基因的获取中暗示特定的质粒谱系,即使质粒不再存在,并检测blaCTX-M-55从染色体到可移动质粒的近期转座。如果要了解与ESBL抗性传播相关的传播途径并进行干预,则研究移动遗传元件的类似高分辨率方法将是必不可少的。
    Over a 3-month period, we monitored the population of extended-spectrum β-lactam-resistant Escherichia coli (ESBL-EC) associated with the patients, staff, and environment of an intensive care unit (ICU) in Guangzhou, China. Thirty-four clinical isolates were obtained from the same hospital 12 months later. A total of 165 isolates were characterized and whole-genome sequenced, with 24 isolates subjected to long-read sequencing. The diverse population included representatives of 59 different sequence types (STs). ICU patient and environmental isolates were largely distinct from staff isolates and clinical isolates. We observed five instances of highly similar isolates (0 to 13 single nucleotide polymorphisms [SNPs]) being obtained from different patients or bed unit environments. ESBL resistance in this collection was largely conferred by blaCTX-M genes, which were found in 96.4% of all isolates. The contexts of blaCTX-M genes were diverse, situated in multiple chromosomal positions and in various plasmids. We identified blaCTX-M-bearing plasmid lineages that were present in multiple STs across the surveillance, staff, and clinical collections. Closer examination of ISEcp1-blaCTX-M transposition units shed light on the dynamics of their transmission, with evidence for the acquisition of chromosomal copies of blaCTX-M genes from specific plasmid lineages and for the movement of blaCTX-M-55 from a ST1193 chromosome to a small mobilizable plasmid. A carbapenem-resistant ST167 strain isolated from a patient that had been treated with meropenem and piperacillin-tazobactam contained seven copies of blaCMY-146, which appears to have been amplified by IS1. Our data revealed limited persistence and movement of ESBL-EC strains in the ICU environment, but we observed circulating plasmid lineages playing an essential and ongoing role in shaping the cephalosporin-resistance landscape in the population examined. IMPORTANCE ESBL resistance significantly impacts clinical management of E. coli infections in hospitals globally. It is important to understand the structures of ESBL-EC populations carried by hospital patients and staff, their capacity to persist in hospital environments, and the dynamics of mobile genes that drive the spread of ESBL resistance. In our 3-month study, ESBL-EC strains found in the ICU environment were strongly associated with patient carriage but distinct from strains found in staff. However, plasmid lineages carrying blaCTX-M genes were found across the ICU populations and in a collection of clinical isolates obtained 1 year later. By examining their content and contexts, we have traced the recent histories of chromosomal and plasmid-borne ISEcp1-blaCTX-M transposition units in the ICU population. This information allowed us to implicate specific plasmid lineages in the acquisition of chromosomal blaCTX-M genes, even when the plasmids were no longer present, and to detect recent transposition of blaCTX-M-55 from a chromosome to a mobilizable plasmid. Similar high-resolution approaches to the study of mobile genetic elements will be essential if the transmission routes associated with the spread of ESBL resistance are to be understood and subjected to interventions.
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  • 文章类型: Journal Article
    长末端重复反转录转座子(LTR-RT)构成植物基因组的相当大一部分。这些活性LTR-RTs的新插入修饰了基因结构和功能,并在基因组进化中起着重要作用。因此,鉴定LTR-RTs的活性形式可以揭示这些元素在植物中的作用。染色体外线性DNA(eclDNA)在LTR-RT复制过程中形成;因此,扩增eclDNA的LTR,然后测序(ALE-seq)揭示了LTR-RT的当前易位电位。通过在Nipponbare品种的愈伤组织中鉴定Tos17来验证ALE-seq方案。这里,基于ALE-seq技术,我们在水稻品种Dongjin愈伤组织中的6号和9号染色体上鉴定了属于Oryco家族的两个活性LTR-RT。每个Oryco家族成员具有具有相同序列和内部结构域区的配对LTR。两个LTR-RT的比较揭示了它们的内部结构域中97%的序列同一性和它们的LTR中65%的序列同一性。这两个假定具有活性的OrycoLTR-RT家族成员可用于扩展我们对逆转转座机制以及LTR-RT对水稻基因组的影响的了解。
    Long terminal repeat retrotransposons (LTR-RTs) make up a considerable portion of plant genomes. New insertions of these active LTR-RTs modify gene structures and functions and play an important role in genome evolution. Therefore, identifying active forms of LTR-RTs could uncover the effects of these elements in plants. Extrachromosomal linear DNA (eclDNA) forms during LTR-RT replication; therefore, amplification LTRs of eclDNAs followed by sequencing (ALE-seq) uncover the current transpositional potential of the LTR-RTs. The ALE-seq protocol was validated by identification of Tos17 in callus of Nipponbare cultivar. Here, we identified two active LTR-RTs belonging to the Oryco family on chromosomes 6 and 9 in rice cultivar Dongjin callus based on the ALE-seq technology. Each Oryco family member has paired LTRs with identical sequences and internal domain regions. Comparison of the two LTR-RTs revealed 97% sequence identity in their internal domains and 65% sequence identity in their LTRs. These two putatively active Oryco LTR-RT family members could be used to expand our knowledge of retrotransposition mechanisms and the effects of LTR-RTs on the rice genome.
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  • 文章类型: Journal Article
    OBJECTIVE: To review the research progress of arthroscopic long head of biceps tendon (LHBT) transposition in treatment of irreparable massive rotator cuff tears.
    METHODS: The domestic and foreign related literature in recent years on the treatment of irreparable massive rotator cuff tears with different LHBT transposition methods under arthroscopy was reviewed and analyzed.
    RESULTS: Arthroscopic LHBT transposition is an effective method for irreparable massive rotator cuff tears, which mainly includes \"proximal cut\", \"both two cuts\", \"distal cut\", and \"no cut\". Different methods of LHBT transposition can achieve good effectiveness, but its long-term effectiveness needs further follow-up.
    CONCLUSIONS: Arthroscopic LHBT transposition in treatment of irreparable massive rotator cuff tears is simple and effective. The patients can recover quickly after operation with less injury. But the technique has higher requirements for surgeons, and the indications must be strictly controlled.
    UNASSIGNED: 综述关节镜下肱二头肌长头肌腱(long head of biceps tendon,LHBT)转位治疗不可修复巨大肩袖撕裂的研究进展。.
    UNASSIGNED: 查阅近年来国内外关节镜下不同方式LHBT转位治疗不可修复巨大肩袖撕裂的相关文献,并进行总结分析。.
    UNASSIGNED: 关节镜下LHBT转位是一种治疗不可修复巨大肩袖撕裂的有效方法,目前主要采用“断近端”、“两头断”、“断远端”及“不切断”4种方式。临床研究表明上述方式均能取得良好疗效,但远期疗效有待进一步随访明确。.
    UNASSIGNED: 关节镜下LHBT转位治疗不可修复巨大肩袖撕裂手术简便、有效,患者损伤小、术后恢复快,但对术者技术要求较高,需严格把握手术适应证。.
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  • 文章类型: Journal Article
    Objectives: The aim of this study was to present our experience with the management of isolated left vertebral artery (ILVA) during complex thoracic aortic pathology treated with the hybrid thoracic endovascular aortic repair. Methods: This is a single-center, respective cohort study. Between June 2016 and June 2020, 13 patients (12 men; median age 60 years old, range 42-72 years old) who underwent hybrid procedures were identified with ILVA in our center. Demographics, imaging features, operation details, and follow-up in these patients were collected and analyzed. Results: In this study, all patients received the hybrid procedure, and the primary technical success rate was 100%. There were no in-hospital deaths. Complication occurred in two (15.4%) patients. One patient suffered from contrast-induced acute kidney injury (CI-AKI) and recovered before discharge. Another patient required reintervention for acute left-lower-limb ischemia, which was successfully treated using Fogarty catheter embolectomy. Immediate vagus/recurrent laryngeal never palsy, lymphocele, and chylothorax were not observed. The median duration of follow-up was 22 months (range, 13-29 months). No neurologic deficits, bypass occlusion, or ILVA occlusion or stenosis were observed during the follow-up. No aortic rupture, cerebrovascular accident, or spinal cord ischemia was observed during the follow-up period. Conclusions: Our limited experience reveals that hybrid procedures [thoracic endovascular aortic repair (TEVAR), ILVA transposition, and left common carotid artery-left subclavian artery (LCCA-LSA) bypass] are relatively safe, feasible, and durable for the treatment of thoracic aortic pathology with ILVA. However, further technique durability and larger studies with long-term follow-up periods are warranted.
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  • 文章类型: Journal Article
    BACKGROUND: LTR retrotransposons play a significant role in plant growth, genome evolution, and environmental stress response, but their regulatory response to heat stress remains unclear. We have investigated the activities of two LTR retrotransposons, PHRE1 and PHRE2, of moso bamboo (Phyllostachys edulis) in response to heat stress.
    RESULTS: The differential overexpression of PHRE1 and PHRE2 with or without CaMV35s promoter showed enhanced expression under heat stress in transgenic plants. The transcriptional activity studies showed an increase in transposition activity and copy number among moso bamboo wild type and Arabidopsis transgenic plants under heat stress. Comparison of promoter activity in transgenic plants indicated that 5\'LTR promoter activity was higher than CaMV35s promoter. Additionally, yeast one-hybrid (Y1H) system and in planta biomolecular fluorescence complementation (BiFC) assay revealed interactions of heat-dependent transcription factors (TFs) with 5\'LTR sequence and direct interactions of TFs with pol and gag.
    CONCLUSIONS: Our results conclude that the 5\'LTR acts as a promoter and could regulate the LTR retrotransposons in moso bamboo under heat stress.
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  • 文章类型: Journal Article
    Microbes employ sophisticated cellular networks encoded by complex genomes to rapidly adapt to changing environments. High-throughput genome engineering methods are valuable tools for functionally profiling genotype-phenotype relationships and understanding the complexity of cellular networks. However, current methods either rely on special homologous recombination systems and are thus applicable in only limited bacterial species or can generate only nonspecific mutations and thus require extensive subsequent screening. Here, we report a site-specific transposon-assisted genome engineering (STAGE) method that allows high-throughput Cas12k-guided mutagenesis in various microorganisms, such as Pseudomonas aeruginosa and Klebsiella pneumoniae. Exploiting the powerful STAGE technique, we construct a site-specific transposon mutant library that focuses on all possible transcription factors (TFs) in P. aeruginosa, enabling the comprehensive identification of essential genes and antibiotic-resistance-related factors. Given its broad host range activity and easy programmability, this method can be widely adapted to diverse microbial species for rapid genome engineering and strain evolution.
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