Transposition

换位
  • 文章类型: Editorial
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  • 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: Editorial
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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: 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
    背景:微血管减压术(MVD),面肌痉挛(HFS)的标准手术方法,可分为间置法和转置法。尽管已经报道了介入后HFS复发的风险,由一名外科医生进行的两种方法的长期结局比较数据有限.本研究旨在通过比较单个外科医生在单中心环境中进行的手术结果来研究MVD技术对HFS的疗效。
    方法:对109例MVD患者进行分析,分为转位组(86例)和间位组(23例)。评估并比较术后1个月和1年的结果,包括痉挛缓解率,并发症,和复发。
    结果:结果评估显示,干预组早期痉挛缓解率较高(66.3%vs.100%,转座vs.插入,分别,p=0.0004),尽管术后1年痉挛缓解在两组之间具有可比性(84.9%vs.95.7%,转座vs.插入,分别,p=0.2929)。并发症和复发率无明显差异。Kaplan-Meier分析表明,MVD方法在痉挛消退的持续时间上没有显着差异(p=0.4347,对数秩检验)。
    结论:这项研究表明,移位(Surgicel®和纤维蛋白胶)和插入(海绵)方法都是出色的手术技术。与转座方法相比,插入方法可以实现更早的痉挛解决。
    BACKGROUND: Microvascular decompression (MVD), the standard surgical approach for hemifacial spasm (HFS), can be divided into the interposition and transposition methods. Although the risk of HFS recurrence following interposition has been reported, there is limited data comparing long-term outcomes between both methods performed by a single surgeon. This study aimed to investigate the efficacy of MVD techniques on HFS by comparing surgical outcomes performed by a single surgeon in a single-center setting.
    METHODS: A total of 109 patients who underwent MVD were analyzed and divided into the transposition (86 patients) and interposition (23 patients) groups. Postoperative outcomes at 1 month and 1 year were assessed and compared, including rates of spasm relief, complications, and recurrence.
    RESULTS: Outcome assessment revealed higher rates of early spasm relief in the interposition group (66.3% vs. 100%, transposition vs. interposition, respectively, p = 0.0004), although spasm relief at 1-year postoperatively was comparable between the two groups (84.9% vs. 95.7%, transposition vs. interposition, respectively, p = 0.2929). No significant differences were observed in complication and recurrence rates. Kaplan-Meier analysis demonstrated no significant differences in the duration of spasm resolution by MVD method (p = 0.4347, log-rank test).
    CONCLUSIONS: This study shows that both the transposition (Surgicel® and fibrin glue) and interposition (sponge) methods were excellent surgical techniques. The interposition method may achieve earlier spasm resolution compared to the transposition method.
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  • 文章类型: Journal Article
    背景:NODAL信号在脊椎动物的胚胎模式和心脏发育中起关键作用。导致TGF-β/NODAL信号传导途径扰动的遗传变异已重复显示在人类中引起偏侧性缺陷。为了进一步探索这种关联并改善遗传诊断,本研究旨在鉴定和表征大量具有侧向性缺陷的个体中更广泛的NODAL变异.
    方法:我们使用以家庭为基础的方法,重新分析了321例临床诊断为偏侧性先天性心脏病(CHD)的先证者外显子组,罕见的变异基因组分析。在该队列中,我们添加了12名来自机构研究和临床队列的具有已知NODAL变体和CHD的受影响受试者,以调查等位基因系列。对于那些具有候选贡献变体的人,通过Sanger测序对现有家族成员进行变异等位基因确认和分离分析.阵列比较基因组杂交和液滴数字PCR用于拷贝数变体(CNV)验证和表征。我们进行了基于人类表型本体论(HPO)的定量表型分析,以剖析等位基因特异性表型差异。
    结果:错觉,胡说,拼接部位,indels,在33例CHD病例中,NODAL的和/或结构变体被确定为异位和其他侧向缺陷的潜在原因。我们描述了一种复发的复杂indel变体,其核酸二级结构预测暗示二级结构诱变是一种可能的形成机制。我们在两个无关的CHD病例中鉴定了两个跨越NODAL的CNV缺失等位基因。此外,发现17例CHD个体(16/17已知西班牙裔)的c.778G>A:p。G260RNODAL错义变体,我们建议将其从意义不确定的变体(VUS)重新分类为可能的致病性。对所有p.G260R变异病例的临床表型进行基于HPO的定量分析,包括杂合的,纯合子,和复合杂合子病例,揭示具有双等位基因变异的个体的聚类。这一发现为基因型-表型相关性和等位基因特异性基因剂量模型提供了证据。
    结论:我们的数据进一步支持NODAL中罕见的有害变体作为散发性人类侧向缺陷的原因的作用,扩大观察到的潜在心血管异常的解剖复杂性,并暗示等位基因特异性基因剂量模型。
    NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large number of individuals with laterality defects.
    We re-analyzed a cohort of 321 proband-only exomes of individuals with clinically diagnosed laterality congenital heart disease (CHD) using family-based, rare variant genomic analyses. To this cohort we added 12 affected subjects with known NODAL variants and CHD from institutional research and clinical cohorts to investigate an allelic series. For those with candidate contributory variants, variant allele confirmation and segregation analysis were studied by Sanger sequencing in available family members. Array comparative genomic hybridization and droplet digital PCR were utilized for copy number variants (CNV) validation and characterization. We performed Human Phenotype Ontology (HPO)-based quantitative phenotypic analyses to dissect allele-specific phenotypic differences.
    Missense, nonsense, splice site, indels, and/or structural variants of NODAL were identified as potential causes of heterotaxy and other laterality defects in 33 CHD cases. We describe a recurrent complex indel variant for which the nucleic acid secondary structure predictions implicate secondary structure mutagenesis as a possible mechanism for formation. We identified two CNV deletion alleles spanning NODAL in two unrelated CHD cases. Furthermore, 17 CHD individuals were found (16/17 with known Hispanic ancestry) to have the c.778G > A:p.G260R NODAL missense variant which we propose reclassification from variant of uncertain significance (VUS) to likely pathogenic. Quantitative HPO-based analyses of the observed clinical phenotype for all cases with p.G260R variation, including heterozygous, homozygous, and compound heterozygous cases, reveal clustering of individuals with biallelic variation. This finding provides evidence for a genotypic-phenotypic correlation and an allele-specific gene dosage model.
    Our data further support a role for rare deleterious variants in NODAL as a cause for sporadic human laterality defects, expand the repertoire of observed anatomical complexity of potential cardiovascular anomalies, and implicate an allele specific gene dosage model.
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