Transposition

换位
  • 文章类型: Case Reports
    牙齿移位是一种罕见的牙齿异常,其特征是两个相邻牙齿之间的位置交换。本报告介绍了一名20岁女性患者的上颌右犬和侧切牙移位的独特病例。临床评估和影像学评估揭示了受影响牙齿的非常规定位。治疗计划需要正畸专家之间的共同努力,以实现最佳的美学和功能结果。患者接受了综合治疗方案,包括通过犬齿的远端漂移和侧切牙的内侧移位进行正畸对准。随后的长期随访在18个月的时间内证实了稳定的闭塞和令人满意的美学。此案例强调了精确诊断和多学科方法在管理复杂的牙齿异常(例如牙齿移位)中的重要性。
    The transposition of teeth is an infrequent dental abnormality characterized by the exchange of position between two adjacent teeth. This report presents a unique case of transposition involving the maxillary right canine and lateral incisor in a 20-year-old female patient. Clinical assessment and radiographic evaluation revealed the unconventional positioning of the affected teeth. Treatment planning necessitated collaborative efforts between orthodontic specialists to achieve optimal esthetic and functional outcomes. The patient underwent a comprehensive treatment regimen, including orthodontic alignment by distal drifting of the canine and mesial shifting of the lateral incisor. Subsequent long-term follow-ups confirmed stable occlusion and satisfactory esthetics in a time period of 18 months. This case underscores the significance of precise diagnosis and a multidisciplinary approach in managing intricate dental anomalies such as tooth transposition.
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  • 文章类型: Journal Article
    尺神经病是一种更常见的诊断单神经病;尽管如此,明确的手术治疗策略尚未得到广泛认同.在这项研究中,我们系统地回顾了文献,并评估了接受原位减压的神经炎或神经病患者的恢复到游戏或活动的结果,皮下转位,或尺神经肌下转位。我们假设,在没有尺侧副韧带(UCL)病理的情况下,尺神经移位或减压将具有很高的活动恢复率。相关研究是使用PubMed从1975年到2023年进行的,学术搜索完成,CINAHL(护理和相关健康文献累积指数),MEDLINE,和SPORTDiscus。纳入了有关孤立的尺神经移位或减压治疗尺神经炎后恢复游戏或活动结果的文章。排除评估合并UCL损伤或翻修手术的患者的研究。共有12项研究符合纳入标准,从1977年到2021年。在所有研究中,共有358名患者报告恢复了游戏或活动状态,平均年龄为27.2岁(范围,11-75).成功回归发挥,活动,303例患者(84.6%)报告有工作.接受换位的患者,皮下(n=232)和肌肉下(n=20),回报率分别为87.9%和95%,分别。接受原位减压的患者(n=106)的回报率为75.5%。这项系统评价发现,在没有合并UCL病理的情况下,尺神经移位或减压后,活动率恢复为84.6%。总的来说,尺神经转位或减压可以很好地恢复活动率,并且有适当的适应症和手术技术可能会成功恢复。
    Ulnar neuropathy is one of the more commonly diagnosed mononeuropathies; despite this, a definitive surgical treatment strategy has not been widely agreed upon. In this study, we systematically review the literature and assess return to play or activity outcomes in patients with neuritis or neuropathy undergoing in situ decompression, subcutaneous transposition, or submuscular transposition of the ulnar nerve. We hypothesized that ulnar nerve transposition or decompression in the absence of concomitant ulnar collateral ligament (UCL) pathology would have a high rate of return to activity. Relevant studies were generated from 1975 to 2023 using PubMed, Academic Search Complete, CINAHL (Cumulative Index to Nursing and Allied Health Literature), MEDLINE, and SPORTDiscus. Articles reporting on return to play or activity outcomes following isolated ulnar nerve transposition or decompression for ulnar neuritis were included. Studies evaluating patients with concomitant UCL injury or revision surgery were excluded. A total of 12 studies met the inclusion criteria, ranging from 1977 to 2021. There were a total of 358 patients with a reported return to play or activity status across all studies with an average age of 27.2 years (range, 11-75). Successful return to play, activity, or work was reported in 303 patients (84.6%). Patients undergoing transposition, subcutaneous (n = 232) and submuscular (n = 20), had return rates of 87.9% and 95%, respectively. Patients undergoing in situ decompression (n = 106) had return rates of 75.5%. This systematic review found an 84.6% return to activity rate following ulnar nerve transposition or decompression in the absence of concomitant UCL pathology. Overall, transposition or decompression of the ulnar nerve provides a favorable return to activity rates and with appropriate indications and surgical technique will likely yield a successful return.
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  • 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: Case Reports
    大动脉转位(TGA),也称为完全转座,是先天性心脏缺陷,并且它受到房室系统与心室动脉(VA)系统不一致的影响。男性婴儿比女性婴儿略占优势。在报告的几乎一半的病例中,VA系统中的不一致是唯一的发现。在10%的案例中,TGA通常由其他心脏畸形引起,其中包括室间隔缺损和左心室出口狭窄。最终,这些背诵的进展,预后,和临床表现。在大多数情况下,一出生就发病。然而,它可能会有所不同,并取决于解剖和功能类型的差异,这决定了含氧和脱氧血液之间的汞齐化水平。以下疾病的病因尚不清楚,但是已知这种缺陷具有遗传优势。这种情况的最终管理是手术,但医疗管理是可选的,根据临床评估规定,包括呋塞米。手术矫正可以在以后的时间进行,确保孩子的健康。选择的程序是动脉转换操作。该病例报告强调了对新生儿进行广泛重症监护的重要功能,并迅速对高危妊娠进行产前筛查。它还强调了快速医疗保健实践对先天性残疾新生儿的重要性。
    Transposition of the great arteries (TGA), also termed complete transposition, is a congenital cardiac defect, and it is subjected to the concordance of the atrioventricular system discordance of the ventriculoarterial (VA) system. Male babies have slightly more preponderance than female babies. In almost half of the cases reported, the discordance in the VA system is the sole finding. In 10% of cases, TGA is often caused by other cardiac deformities, which incorporate defects in the septum of the ventricular chamber and stenosis in the left ventricular outlet. Eventually, these recite the progression, prognosis, and clinical presentation. In most cases, the onset is as soon as the birth. However, it may vary and depend on the difference in the anatomical and functional types, which determine the level of amalgamation between the oxygenated and deoxygenated blood. The etiology of the following condition is still unknown, but this defect is known to have a genetic preponderance. The definitive management of this condition is surgery, but medical management is optional and is prescribed according to the clinical evaluation and includes furosemide. Surgical correction can be performed in the later course of time, ensuring the fitness of the child. The procedure of choice is the arterial switch operation. This case report emphasizes the vital function of extensive critical care of newborns and prompt antenatal screening of high-risk pregnancies. It also highlights the importance of quick healthcare practices for newborns with congenital disabilities.
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  • 文章类型: Journal Article
    近年来,抗生素耐药性的迅速出现和全球传播引起了人们对现代医学未来的重大关注。超级细菌和多重耐药细菌已在世界许多地方流行,提高了无法治愈的感染的幽灵。在过去的80年中,抗生素的过度使用和滥用无疑促进了抗生素耐药性的发展。给全世界的医疗系统带来巨大的压力。尽管如此,细菌耐药性的分子机制自古以来就存在。这些机制和过程中的一些已经作为电流电阻决定因素的前体,强调细菌和抗菌对手之间正在进行的军备竞赛。此外,环境中含有许多推定的抗性基因,然而,我们仍然无法预测这些基因中的哪一个会出现并表现为致病性抗性表型。抗生素在自然栖息地的存在,即使在亚抑制浓度下,可能会提供选择性压力,有利于新型抗微生物耐药性设备的出现,因此,强调需要全面了解推动抗菌素耐药性持续和传播的因素。由于迫切需要开发逃避耐药性的抗菌策略,对这些关键因素的清晰认识最终可以为创新治疗靶点的设计铺平道路.
    The rapid emergence and global spread of antimicrobial resistance in recent years have raised significant concerns about the future of modern medicine. Superbugs and multidrugresistant bacteria have become endemic in many parts of the world, raising the specter of untreatable infections. The overuse and misuse of antimicrobials over the past 80 years have undoubtedly contributed to the development of antimicrobial resistance, placing immense pressure on healthcare systems worldwide. Nonetheless, the molecular mechanisms underlying antimicrobial resistance in bacteria have existed since ancient times. Some of these mechanisms and processes have served as the precursors of current resistance determinants, highlighting the ongoing arms race between bacteria and their antimicrobial adversaries. Moreover, the environment harbors many putative resistance genes, yet we cannot still predict which of these genes will emerge and manifest as pathogenic resistance phenotypes. The presence of antibiotics in natural habitats, even at sub-inhibitory concentrations, may provide selective pressures that favor the emergence of novel antimicrobial resistance apparatus and, thus, underscores the need for a comprehensive understanding of the factors driving the persistence and spread of antimicrobial resistance. As the development of antimicrobial strategies that evade resistance is urgently needed, a clear perception of these critical factors could ultimately pave the way for the design of innovative therapeutic targets.
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  • 文章类型: Journal Article
    背景:性分化方面和控制生殖器位置的机制,这代表了两性之间最重要的差异之一,仍然知之甚少。轻微病例和一些变异的阴囊转位(PST)未报告,明显的病例被广泛分类,并与其他无关的异常相混淆。
    方法:回顾了直到2022年发表的相关文献,然后整理,重述,并与65例诊断为PST的儿童的结果和数据进行比较。所以,对这种罕见情况的综合综合方法实现了新的分类,包括很少未报告的变异病例,是补充的。
    结果:PST在本文中被分类为头部或尾部阴囊迁移,头型细分为主要亚型和次要亚型,后者细分为双侧亚型,单侧或中枢亚型。尾部阴囊消退的病例是一种未报告的异常,其中阴囊位于尾部,与外翻/外翻异常持续相关,在固定阴茎和阴囊之间留下很远的距离。
    结论:PST并不罕见,因为它被认为,它发生在两个方向;头部和尾部方向。之前没有描述阴囊尾部回归异常,PST也表现为腹股沟疝。
    BACKGROUND: The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies.
    METHODS: Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented.
    RESULTS: PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs.
    CONCLUSIONS: PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.
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  • 文章类型: Journal Article
    重组腺相关病毒(rAAV)载体基因递送系统已在临床试验中显示出巨大的前景,但继续面临耐久性和剂量相关的挑战。与rAAV基因治疗不同,整合基因添加方法可以在有丝分裂活性细胞和儿科人群中提供治愈性表达。我们探索了一种基于工程化转座酶的新型体内递送方法,睡美人(SB100X)在脂质纳米颗粒(LNP)内作为mRNA递送,与rAAV递送的可转座转基因组合。这种组合方法在单次递送至新生肝脏中的分裂肝细胞后,在新生Spfash小鼠模型中实现了鸟氨酸转碳淀粉酶缺乏的校正。矫正一直稳定到成年,而传统的rAAV方法导致疾病状态的恢复。在非人灵长类动物中,通过换位整合,通过这项技术,与常规rAAV介导的基因转移相比,基因表达提高了10倍,同时需要5倍的载体。此外,整合位点分析证实了随机谱,同时特异性靶向跨基因组的TA二核苷酸.一起,这些发现表明,转座因子可以通过降低载体剂量需求和相关毒性,同时扩增靶细胞类型来改善rAAV递送疗法.
    Recombinant adeno-associated virus (rAAV) vector gene delivery systems have demonstrated great promise in clinical trials but continue to face durability and dose-related challenges. Unlike rAAV gene therapy, integrating gene addition approaches can provide curative expression in mitotically active cells and pediatric populations. We explored a novel in vivo delivery approach based on an engineered transposase, Sleeping Beauty (SB100X), delivered as an mRNA within a lipid nanoparticle (LNP), in combination with an rAAV-delivered transposable transgene. This combinatorial approach achieved correction of ornithine transcarbamylase deficiency in the neonatal Spfash mouse model following a single delivery to dividing hepatocytes in the newborn liver. Correction remained stable into adulthood, while a conventional rAAV approach resulted in a return to the disease state. In non-human primates, integration by transposition, mediated by this technology, improved gene expression 10-fold over conventional rAAV-mediated gene transfer while requiring 5-fold less vector. Additionally, integration site analysis confirmed a random profile while specifically targeting TA dinucleotides across the genome. Together, these findings demonstrate that transposable elements can improve rAAV-delivered therapies by lowering the vector dose requirement and associated toxicity while expanding target cell types.
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  • 文章类型: Journal Article
    近年来,马复杂的椎骨畸形(ECVM)一直是马社区关注的问题,研究发现了许多相关的形态学变异。这里,我们检查了ECVM病例中C6和C7之间的形态学相关性,其中C6的部分不存在的腹侧过程转移到C7的腹侧表面。C6腹突有两个结节,一个头颅(CrVT)和一个尾(CVT)。在这项研究中,C6骨标本(n=85)显示1-4级部分或完全缺失的CVT(aCVT),通常颅骨延伸,形成1-3级部分缺失的颅腹结节(aCrVT)。在检查的85个C6骨标本中,在44/85中,相应的C7表现出从C6开始的腹突完全或不完全转座,其中30/44复制了横孔。C64级aCVT与1-3级aCrVT和具有复制的横向孔的C7转座之间存在很强的统计依赖性。侧面也被证明,其中左侧缺失C6与C7左侧腹面转位相关。这同样适用于右侧和大多数双边情况。这些发现可能会使医师在对表现出尾部颈椎疼痛的患者进行ECVM构型的范围进行射线照相时受益。
    In recent years, equine complex vertebral malformation (ECVM) has been of concern in the equine community, with studies identifying numerous associative morphological variations. Here, we examine the morphological association between C6 and C7 for dependency in ECVM cases, where the partially absent ventral process of C6 transposes on the ventral surface of C7. A C6 ventral process presents two tubercles, one cranial (CrVT) and one caudal (CVT). In this study, the C6 osseous specimens (n = 85) demonstrated a partial or completely absent CVT (aCVT) graded 1-4 that often extended cranially creating a partially absent cranial ventral tubercle (aCrVT) graded 1-3. In the 85 C6 osseous specimens examined, the corresponding C7s demonstrated either a complete or incomplete transposition of the ventral process from C6 in 44/85, with 30/44 replicating a transverse foramen. A strong statistical dependency existed between C6 grade 4 aCVTs and grades 1-3 aCrVTs and C7 transpositions with replicated transverse foramen. Sidedness was also demonstrated, where a left sided absent C6 associated with transposition on the left ventral surface of C7. This likewise applied to right sidedness and most bilateral cases. These findings might benefit practitioners when radiographing the extent of the ECVM configuration in patients presenting caudal cervical pain.
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  • 文章类型: Case Reports
    背景:直接手术是治疗椎动脉(VA)狭窄的重要选择。
    方法:一名右侧VA起点有症状狭窄的患者接受了右侧VA转位至颈总动脉(CCA)。使用胸锁乳突保留方法,通过扭转CCA以使其后壁面对手术区域,将VA吻合到CCA的后壁。
    结论:这种方法,包括固定近端VA,然后跟随其远端,不仅保留了胸锁乳突肌,还保护了交感神经链和胸导管。
    BACKGROUND: Direct surgery is an important option to treat vertebral artery (VA) stenosis.
    METHODS: A patient with symptomatic stenosis at the origin of the right VA underwent transposition of the right VA to the common carotid artery (CCA). Using the sternocleidomastoid sparing approach, the VA was anastomosed to the posterior wall of the CCA by twisting the CCA to expose its posterior wall to face the operative field.
    CONCLUSIONS: This approach, consisting of securing the proximal VA and then following it to its distal end, not only preserves the sternocleidomastoid muscle but also protects the sympathetic chains and thoracic duct.
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  • 文章类型: Journal Article
    粪肠球菌是与乳酸菌相关的系统发育和工业相关的微生物。这种细菌的一些菌株在商业应用中用作益生菌,而其他人则是手工区域奶酪生产的发酵剂文化的主要组成部分。然而,在过去的十年里,该物种已成为机会性多重抗性病原体,引起人们对其对人类健康影响的担忧。最近,我们在粪肠球菌中发现了多个钾转运系统,包括KTR系统(KtrAB和KtrAD),Kup,KimA和Kdp复合体(KdpFABC)。然而,这些蛋白质的生理意义仍未完全了解。在这项研究中,我们观察到JH2-2菌株中的kup基因启动子区由于IS6770插入序列的完整拷贝的插入而被修饰。因此,我们研究了IS6770对kup基因表达的影响。为了实现这一点,我们在粪肠球菌JH2-2菌株中对该基因的启动子区域进行了定位,采用荧光基因报告基因。此外,在缺乏IS30相关插入元件的粪肠球菌V583菌株中进行了kup基因的转录分析,促进转录起始位点的鉴定。接下来,通过RT-qPCR在不同pH应激条件下评估kup基因的表达。在源自粪肠球菌V583的菌株中,在5.0的初始pH下观察到kup基因的强烈上调。然而,由于IS6770的存在引起的阻碍,在粪肠球菌JH2-2菌株中未观察到转录激活。除此之外,我们对粪肠球菌基因组的计算分析阐明了转座与kup基因调控之间的合理关联.值得注意的是,IS6770在整个系统发育树中普遍存在,这意味着它在粪肠球菌中的古老存在。此外,IS6770与kup基因的反复出现,在30%的IS6770阳性菌株中观察到,暗示这种基因组排列可能参与粪肠球菌在不同生态位的适应性策略。
    Enterococcus faecalis is a phylogenetically and industrially relevant microorganism associated with Lactic Acid Bacteria. Some strains of this bacterium are employed as probiotics in commercial applications, while others serve as the principal component in starter cultures for artisanal regional cheese production. However, over the last decade, this species has emerged as an opportunistic multiresistant pathogen, raising concerns about its impact on human health. Recently, we identified multiple potassium transporter systems in E. faecalis, including the Ktr systems (KtrAB and KtrAD), Kup, KimA and Kdp complex (KdpFABC). Nevertheless, the physiological significance of these proteins remains not fully understood. In this study, we observed that the kup gene promoter region in the JH2-2 strain was modified due to the insertion of a complete copy of the IS6770 insertion sequence. Consequently, we investigated the influence of IS6770 on the expression of the kup gene. To achieve this, we conducted a mapping of the promoter region of this gene in the E. faecalis JH2-2 strain, employing fluorescence gene reporters. In addition, a transcriptional analysis of the kup gene was executed in a strain derived from E. faecalis V583 that lacks the IS30-related insertion element, facilitating the identification of the transcriptional start site. Next, the expression of the kup gene was evaluated via RT-qPCR under different pH stressful conditions. A strong upregulation of the kup gene was observed at an initial pH of 5.0 in the strain derived from E. faecalis V583. However, the activation of transcription was not observed in the E. faecalis JH2-2 strain due to the hindrance caused by the presence of IS6770. Besides that, our computational analysis of E. faecalis genomes elucidates a plausible association between transposition and the regulation of the kup gene. Remarkably, the ubiquitous presence of IS6770 throughout the phylogenetic tree implies its ancient existence within E. faecalis. Moreover, the recurrent co-occurrence of IS6770 with the kup gene, observed in 30 % of IS6770-positive strains, alludes to the potential involvement of this genomic arrangement in the adaptive strategies of E. faecalis across diverse niches.
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