Spine

脊柱
  • 文章类型: Journal Article
    脊柱退行性疾病对我们的医疗保健系统造成了越来越大的负担,然而,人们对获取和护理的纵向趋势知之甚少。我们的目标是提供加拿大退行性脊柱病理的手术量趋势的基本肖像。
    加拿大健康信息研究所(CIHI)数据库用于识别2006年至2019年因退行性脊柱疾病接受手术的所有患者。干预措施数量的趋势,计划外与计划外住院,工作时间与工作时间外干预,使用线性回归模型对资源利用和不良事件进行回顾性分析.置信区间以预期计数比率量表(CR)报告。
    分析了2006年至2019年期间的338,629例脊柱干预和256,360例住院。选择性住院的患者年平均年龄的平均值和SD为55.5(SD1.6),紧急住院的患者年平均年龄为55.6(SD1.6)。择期住院的女性患者比例为47.8%(91,789/192,027),急诊住院的女性患者比例为41.4%(26,633/64,333)。择期住院平均每年增加2.0%,CR=1.020(95%CI1.017-1.023,p<0.0001),而紧急住院率表现出更快的增长,平均每年3.4%,CR1.034(95%CI1.027-1.040,p<0.0001)。"小时内"手术平均每年增加2.7%,CR1.027(95%CI1.021-1.033,p<0.0001),而“非工作时间”手术每年增长6.1%,CR1.061(95%CI1.051-1.071,p<0.0001)。计划外住院的资源利用率约为计划住院的两倍半。至少有一个不良事件的脊柱干预的比例平均每年增加6.3%,CR1.063(95%CI1.049-1.077,p<0.0001)。
    这项研究为所有提供商和利益相关者提供了至关重要的新数据。紧急非工作时间住院的快速增长表明,这一不断增长的患者群体的需求远远超过了医疗保健资源分配。未来的研究将分析这种系统转变对健康相关的生活质量的影响,并确定获得外科护理的人口和社会经济不平等。
    这项工作由Bob和TrishSaunders脊柱研究基金通过VGH和UBC医院基金会资助。研究的资助者在研究设计中没有作用,数据收集,数据分析,数据解释,或者写手稿。
    UNASSIGNED: Spinal degenerative disease represents a growing burden on our healthcare system, yet little is known about longitudinal trends in access and care. Our goal was to provide an essential portrait of surgical volume trends for degenerative spinal pathologies within Canada.
    UNASSIGNED: The Canadian Institute for Health Information (CIHI) database was used to identify all patients receiving surgery for a degenerative spinal condition from 2006 to 2019. Trends in number of interventions, unscheduled vs scheduled hospitalizations, in-hours vs out-of-hours interventions, resource utilization and adverse events were analyzed retrospectively using linear regression models. Confidence intervals were reported in the expected count ratio scale (CR).
    UNASSIGNED: A total of 338,629 spinal interventions and 256,360 hospitalizations between 2006 and 2019 were analyzed. The mean and SD of the annual mean age of patients was 55.5 (SD 1.6) for elective hospitalizations and 55.6 (SD 1.6) for emergent hospitalizations. The proportion of female patients was 47.8% (91,789/192,027) for elective hospitalizations and 41.4% (26,633/64,333) for emergent hospitalizations. Elective hospitalizations increased an average of 2.0% per year, with CR = 1.020 (95% CI 1.017-1.023, p < 0.0001) while emergent hospitalizations exhibited more rapid growth with an average 3.4% annually, with CR 1.034 (95% CI 1.027-1.040, p < 0.0001). «In-hours » surgeries increased on average 2.7% per year, with CR 1.027 (95% CI 1.021-1.033, p < 0.0001), while « out-of-hours » surgeries increased 6.1% annually, with CR 1.061 (95% CI 1.051-1.071, p < 0.0001). The resource utilization for unscheduled hospitalizations approximates two and a half times that of scheduled hospitalizations. The proportions of spinal interventions with at least one adverse event increased on average 6.3% per year, with CR 1.063 (95% CI 1.049-1.077, p < 0.0001).
    UNASSIGNED: This study provides novel data critical for all providers and stakeholders. The rapid growth of emergent out-of-hours hospitalizations demonstrates that the needs of this growing patient population have far exceeded health-care resource allocations. Future studies will analyze the health-related quality of life implications of this system shift and identify demographic and socioeconomic inequities in access to surgical care.
    UNASSIGNED: This work was funded by the Bob and Trish Saunders Spine Research Fund through The VGH and UBC Hospital Foundation. The funder of the study had no role in the study design, data collection, data analysis, data interpretation, or writing of the manuscript.
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  • 文章类型: Journal Article
    脊柱痛风,一种罕见且经常未被诊断的疾病,显著影响患者的生活质量。因此,这项研究的目的是分析脊髓痛风的病例,包括临床特征,脊柱痛风的解剖位置,实验室研究,影像学检查,治疗选择,以及各种脊髓痛风病例的结果。
    作者在2013年至2023年的PUBMED和ScienceDirect数据库中进行了系统的文献检索。我们纳入了成人脊柱病例的临床病例报告,用英语出版。三位研究者独立回顾了每篇文章的标题和摘要,任何意见分歧都是通过协商一致解决的。随后对提取的数据进行描述性分析。
    共获得并研究了88例脊髓痛风。在所有的脊柱痛风病例中,89.77%的受试者为男性,平均年龄为51.9岁(年龄范围16-87岁)。常见症状包括背部/颈部疼痛(78.41%)和下肢无力(37.50%)。腰椎是最常受累的区域(62.50%),主要通过磁共振成像(MRI)扫描诊断。手术,61.36%的病例执行,通常涉及减压椎板切除术。后处理,87.50%的病例症状缓解。
    有多种症状的脊髓痛风病例,包括背痛和虚弱.诊断通常涉及MRI检查和滑液分析以进行确认。治疗各不相同,包括药物治疗和手术干预。对这些病例的更深入了解可以帮助医疗保健从业人员管理和诊断脊髓痛风病例。
    UNASSIGNED: Spinal gout, a rare and often underdiagnosed condition, significantly impacts patients\' quality of life. Therefore, the aim of the research is to analyze cases of spinal gout, including clinical features, anatomical location of spinal gout, laboratory studies, imaging studies, treatment choices, and outcomes from various cases of spinal gout.
    UNASSIGNED: The author conducted a systematic literature search in the PUBMED and Science Direct databases from 2013 to 2023. We included clinical case presentations of spinal cases in adults, published in English. The three researchers independently reviewed the title and abstract of each article, and any differences in opinions were resolved through consensus. The extracted data were subsequently analyzed descriptively.
    UNASSIGNED: A total of 88 cases of spinal gout were obtained and studied. Out of the total reviewed cases of spinal gout, 89.77% of the subjects were male, with an average age of 51.9 years (age range 16-87 years). Common symptoms include back/neck pain (78.41%) and lower extremity weakness (37.50%). The lumbar spine is the most frequently affected region (62.50%), diagnosed primarily through magnetic resonance imaging (MRI) scans. Surgery, performed in 61.36% of cases, commonly involves decompressive laminectomy. Posttreatment, symptoms resolve in 87.50% of cases.
    UNASSIGNED: Cases of spinal gout present with a variety of symptoms, including back pain and weakness. Diagnosis typically involves an MRI examination and synovial fluid analysis for confirmation. Treatment varies and includes medication therapy and surgical interventions. A deeper understanding of these cases can assist healthcare practitioners in the management and diagnosis of spinal gout cases.
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  • 文章类型: Journal Article
    剑龙是鸟类恐龙的一种次要但标志性的进化枝,但由于化石记录不佳,人们对它们的早期进化知之甚少。这里,我们描述了一种新的剑龙,宝鸡龙,gen.等sp.11月。平川地区中侏罗世王家山组,白银市,甘肃省,中国。白羊龙的额叶在剑龙中具有独特的特征:它比长宽,并且对颞上窗的内侧和前缘都有贡献。白羊龙背椎的特征组合也与其他剑龙不同:它的神经弓没有很大的拉长,它的副肌发育良好,其神经棘轴向向外侧扩张。白羊龙的额叶和椎骨的特征让人联想到基本分支的胸腺,表明白羊龙在形态上在早期的甲状腺素和早期发散的剑龙之间过渡。系统分析表明,白羊龙是一种早期发散的剑龙。
    Stegosaurs are a minor but iconic clade of ornithischian dinosaurs, yet due to a poor fossil record, their early evolution is poorly understood. Here, we describe a new stegosaur, Baiyinosaurus baojiensis, gen. et sp. nov. from the Middle Jurassic Wangjiashan Formation of the Pingchuan District, Baiyin City, Gansu Province, China. The frontal of Baiyinosaurus possesses a unique characteristic among Stegosauria: it is wider than long and contributes to both the medial and anterior margins of the supratemporal fenestra. The character combinations of dorsal vertebrae of Baiyinosaurus are also different to other stegosaurs: its neural arches are not greatly elongated, its parapophyses are well developed, and its neural spines are axially expanded in lateral. The features of the frontal and vertebrae of Baiyinosaurus are reminiscent of basally branching thyreophorans, indicating that Baiyinosaurus is transitional in morphology between early thyreophorans and early-diverging stegosaurs. Systematic analysis shows that Baiyinosaurus is an early-diverging stegosaur.
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  • 文章类型: Journal Article
    在患有慢性鞭打相关疾病(WAD)的患者进行颈部运动干预之前或之后,尚未研究姿势摇摆。该研究的目的是调查患有慢性WAD2级和3级的个体的姿势摇摆:(a)与基线时健康匹配的对照组进行比较;(b)进行颈部特定运动三个月后,以及(c)调查姿势摇摆与运动过程中自我报告的头晕和平衡问题/不稳定之间的相关性。这是一项纵向前瞻性实验病例对照干预研究。WAD患者(n=30)和年龄和性别匹配的健康志愿者(n=30)参加。使用iPhone应用程序评估姿势摇摆。在基线进行测量,对于WAD患者,在颈部特定运动干预结束后的3个月随访时进行第二次测量.WAD组在基线时闭眼(主要结果)的途径和椭圆面积双姿态明显差于健康组,但不是在三个月的随访中。WAD组康复后在双路双位眼闭及单路双位眼睁开均有显著进步。在运动和平衡问题期间,姿势摇摆与自我评估的头晕之间的相关性低至中等。可以得出结论,在进行针对颈部的锻炼计划后,姿势摇摆得到了改善。研究结果加强了早期的发现,即WAD患者在不得不依靠颈部本体感觉(闭眼)时,平衡结果较差。研究结果可能对WAD改善康复方法的发展很重要。
    Postural sway has not been investigated before or after a neck exercise intervention in individuals with chronic whiplash-associated disorders (WAD). The aim of the study was to investigate postural sway in individuals with chronic WAD grades 2 and 3: (a) compared with healthy matched controls at baseline; (b) after three months of neck-specific exercise and (c) to investigate the correlation between postural sway with self-reported dizziness during motion and balance problems/unsteadiness. This is a longitudinal prospective experimental case-control intervention study. Individuals with WAD (n = 30) and age- and gender-matched healthy volunteers (n = 30) participated. Postural sway was assessed using an iPhone application. Measurements were carried out at baseline, and for those with WAD a second measurement was performed at the three-month follow-up when neck-specific exercise intervention ended. The WAD group performed significantly worse than the healthy group in both pathway and ellipse area double stance eyes closed at baseline (main outcome), but not at the three-month follow-up. The WAD group significantly improved after rehabilitation in both pathway double stance eyes closed and pathway single stance eyes open. The correlation between postural sway and self-rated dizziness during motion and balance problems was low to moderate. One may conclude that postural sway was improved after a neck-specific exercise programme. The study results strengthen earlier findings that individuals with WAD have worse balance outcome when they have to rely on neck proprioception (eyes closed). The study results may be important for the development of improved rehabilitation methods for WAD.
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  • 文章类型: Case Reports
    硬脑膜动静脉瘘(AVF)是脊柱中与硬脑膜根套相邻的节段动脉和神经根静脉之间的异常分流。这是最常见的脊髓血管畸形,是一种罕见但可治疗的对侧或四肢瘫痪的原因。它最常见于老年男性,并经常影响胸腰椎区域。这些患者临床表现为进行性脊髓病,和其他自主神经症状(例如,膀胱和肠功能障碍)随后在疾病的后期。计算机断层扫描血管造影和磁共振成像仍然是进行初步评估的方式。在这里,我们介绍了一例罕见的儿童硬脑膜AVF病例,并回顾了影像学检查方法。据我们所知,在儿科年龄组中,这种情况的报道很少。
    Spinal dural arteriovenous fistula (AVF) is an abnormal shunting between the segmental artery and radicular vein adjacent to the dural root sleeve in the spine. This is the most common vascular malformation of the spinal cord and is a rare but treatable cause of para or quadriplegia. It most commonly occurs in elderly men and often affects the thoracolumbar region. These patients clinically present with progressive myelopathies, and other autonomic symptoms (e.g., bladder and bowel dysfunction) subsequently in the later course of the disease. Computed tomography angiography and magnetic resonance imaging remain the modality for initial evaluation. Herein, we present a rare case of spinal dural AVF in a child along with a review of imaging modalities. To the best of our knowledge, there are few case reports of this condition in a paediatric age group.
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  • 文章类型: Journal Article
    脊柱磁共振(MR)扫描是诊断许多疾病和病症的背痛原因的重要工具。然而,从这些扫描中解释临床有用的信息可能是具有挑战性的,耗时且难以在不同的放射科医师之间复制。在本文中,我们通过引入用于分析脊柱MR扫描的多级自动化管道来缓解这些问题。该管道首先检测并标记跨几个常用序列的椎体(例如T1w,T2w和STIR)和视野(例如腰椎,子宫颈,整个脊柱)。使用这些检测,然后对几种脊柱疾病进行自动诊断,包括T1w和T2w腰椎扫描的椎间盘退行性改变,和脊柱转移瘤,脊髓压缩和椎骨骨折。为了实现这一点,我们提出了一种新的椎骨检测和标记方法,使用矢量场将检测到的椎骨标志组合在一起,并进行语言建模启发的波束搜索以确定检测的相应级别。我们还采用了一种新的基于变压器的架构来执行放射分级,该分级结合了来自多个椎骨和序列的上下文,就像真正的放射科医生一样.在几个临床数据集上单独测试管道每个阶段的性能,每个由66到421个扫描。将输出与放射科专家的手动注释进行比较,在一系列扫描参数中展示准确的椎骨检测。同样,该模型对不同类型椎间盘退变和脊柱转移瘤检测的分级预测与放射科专家的分级预测非常吻合。为了帮助未来的研究,我们的代码和训练的模型是公开可用的。
    Spinal magnetic resonance (MR) scans are a vital tool for diagnosing the cause of back pain for many diseases and conditions. However, interpreting clinically useful information from these scans can be challenging, time-consuming and hard to reproduce across different radiologists. In this paper, we alleviate these problems by introducing a multi-stage automated pipeline for analysing spinal MR scans. This pipeline first detects and labels vertebral bodies across several commonly used sequences (e.g. T1w, T2w and STIR) and fields of view (e.g. lumbar, cervical, whole spine). Using these detections it then performs automated diagnosis for several spinal disorders, including intervertebral disc degenerative changes in T1w and T2w lumbar scans, and spinal metastases, cord compression and vertebral fractures. To achieve this, we propose a new method of vertebrae detection and labelling, using vector fields to group together detected vertebral landmarks and a language-modelling inspired beam search to determine the corresponding levels of the detections. We also employ a new transformer-based architecture to perform radiological grading which incorporates context from multiple vertebrae and sequences, as a real radiologist would. The performance of each stage of the pipeline is tested in isolation on several clinical datasets, each consisting of 66 to 421 scans. The outputs are compared to manual annotations of expert radiologists, demonstrating accurate vertebrae detection across a range of scan parameters. Similarly, the model\'s grading predictions for various types of disc degeneration and detection of spinal metastases closely match those of an expert radiologist. To aid future research, our code and trained models are made publicly available.
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  • 文章类型: Journal Article
    囊性神经鞘瘤仅在少数病例报告/系列中报告。因此,它们可能被误诊,建立标准化的管理方法仍然具有挑战性。
    本研究的目的是收集所有报告的囊性神经鞘瘤病例,并根据对文献的系统回顾分析围手术期的过程,再加上作者的2例经验。
    我们搜索了MEDLINE和CENTRAL数据库中的脊髓硬膜内髓外囊性神经鞘瘤,根据PRISMA声明。所有标题/摘要都经过筛选,并对其余文章进行了全文审查。结果汇总在表格中,并使用平均值和标准偏差(SD)进行汇总,中位数和四分位数间距,百分比和95%置信区间。
    我们确定了263篇文章,其中35例,报告54例,包括在内。包括我们的病例报告(n=56),患者就诊时的平均年龄为47.7岁(SD±13.0岁),57%是男性,大部分病变为腰椎(43%)。最常见的症状是疼痛(82%)和肌肉无力(68%),84%的患者表现出神经系统表现。70%的患者在手术后症状完全缓解,96%的患者报告改善。仅报告了四种并发症。
    髓外囊性病变的鉴别诊断应考虑神经鞘瘤。患者通常表现为亚急性至慢性疼痛和/或神经系统变化。手术切除是主要的治疗方式,通常具有良好的效果。
    UNASSIGNED: Cystic schwannomas have only been reported in a few case reports/series. As a result, they may be misdiagnosed and a standardized management approach remains challenging to establish.
    UNASSIGNED: The aim of this study was to compile all reported cases of cystic schwannomas and analyze the perioperative course based on a systematic review of the literature with an additional two cases from the authors\' experience.
    UNASSIGNED: We conducted a search of MEDLINE and CENTRAL databases for spinal intradural extramedullary cystic schwannomas, in accordance to the PRISMA statement. All title/abstracts were screened, and a full-text review of the remaining articles was conducted. The results were compiled in tables and summarized using means and standard deviation (SD), median and interquartile range, and percentage and 95% confidence intervals.
    UNASSIGNED: We identified 263 articles, of which 35, which reported 54 cases, were included. Including our case-reports (n = 56), patients had a mean age of 47.7 years (SD ± 13.0 years) at presentation, 57% were males, and most lesions were lumbar (43%). The most common symptoms were pain (82%) and muscle weakness (68%) with 84% of patients showing neurological findings. 70% of patients showed a complete relief of symptoms after surgery and 96% reported improvement. Only four complications were reported.
    UNASSIGNED: Schwannomas should be considered in the differential diagnosis of intradural extramedullary cystic lesions. Patients typically present with subacute to chronic pain and/or neurologic changes. Surgical resection is the primary therapeutic modality and usually has a good to excellent outcome.
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  • 文章类型: Journal Article
    下腰痛(LBP)是腰骶脊柱磁共振成像(MRI)检查的最常见指征。软组织的个体作用,包括肌肉,对LBP的影响尚未完全了解,并且尚未详细研究每个MRI得出的软组织状态参数对LBP强度的贡献。
    研究设计是观察性回顾性研究,在大学医院进行的单一中心。使用1.5特斯拉扫描仪获取图像。患者完成症状问卷并使用视觉模拟量表(VAS)评估其疼痛强度。VAS评分被归类为轻度,中度,根据文献,使用3.8和5.7的截止值进行严重。生物识别数据,包括体重和身高,还记录了体重指数(BMI)。还计算了肌内脂肪浸润与净肌肉面积之间的比率。患者样本包括94例LBP患者,接受了腰骶脊柱MRI检查。
    逐步分析表明,腰大净面积的增加与较低的VAS水平相关(比值比[OR]:0.94:95%置信区间[CI]:0.90-0.98;p=.005),并且总腰大肌面积增加一平方厘米导致报告轻度(+1.21%;95%CI:0.37,2.05%)或中度VAS(+0.40%;95%CI:-0.02,0.82%)的可能性更大,此外,更严重的VAS与更高的BMI相关(OR:1.13;95%CI:1.00-1.27).
    我们的研究表明了LBP与椎旁肌和腰大肌状态的MRI参数之间的关系。腰大肌对于脊柱稳定极为重要,并且与受LBP影响的患者的临床症状有关。这些发现可能有助于未来的研究和改善LBP患者的治疗选择。可能减少对残疾的影响,生活质量和社会经济负担。
    UNASSIGNED: Low back pain (LBP) is the most frequent indication to magnetic resonance imaging (MRI) examinations of the lumbosacral spine. The individual role of soft tissues, including muscles, on LBP is not fully understood and the contribution of each MRI-derived parameter of soft tissues status on the intensity of LBP has not been investigated in detail.
    UNASSIGNED: The study design was observational retrospective, single center carried out at a University Hospital. Images were acquired using a using a 1.5 Tesla scanner. Patients completed a symptom questionnaire and rated their pain intensity using the Visual Analogue Scale (VAS). The VAS scores ​​were categorized as mild, moderate, and severe using cutoff values of 3.8 and 5.7, based on the literature. Biometric data, including weight and height, were also recorded to calculate the body mass index (BMI). The ratios between intramuscular fat infiltration and net muscle area were also calculated. Patient sample included 94 patients with LBP underwent MRI of the lumbosacral spine.
    UNASSIGNED: The stepwise analysis revealed that increasing psoas net area was associated with lower VAS levels (odds ratio [OR]: 0.94: 95% confidence interval [CI]: 0.90-0.98; p=.005), and an increase of one square centimeter of total psoas area resulted in a greater probability of reporting a mild (+1.21%; 95% CI: 0.37, 2.05%) or a moderate VAS (+0.40%; 95% CI: -0.02, 0.82%), Furthermore, a more severe VAS was associated with a higher BMI (OR: 1.13; 95% CI: 1.00-1.27).
    UNASSIGNED: Our study demonstrates a relationship between LBP and MRI parameters of paravertebral and psoas muscles status. The psoas muscle is extremely important for spine stabilization and is linked to clinical symptoms of patients affected by LBP. These findings could contribute to future studies and improve treatment options in patients with LBP, possibly reducing the impact on disability, quality of life and socioeconomical burden.
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  • 文章类型: Journal Article
    青少年特发性脊柱侧凸(AIS)的后路脊柱融合术会导致严重的术后疼痛。胸椎旁阻滞(PVB)在各种手术中提供出色的镇痛效果。我们检查了PVB对接受AIS手术的儿童术后镇痛的影响。在这项研究中,32名计划进行AIS手术的儿童被随机分配接受PVB(PVB组)或不接受阻滞(对照组)。PVB组接受外科医生进行的PVB,每侧0.5mL/kg肾上腺素0.2%罗哌卡因。主要结果是术后6小时休息时的疼痛评分。次要结果包括静息和运动过程中的疼痛评分以及术后48小时的镇痛药使用。术后6h静息疼痛评分在对照组和PVB组之间具有可比性(分别为5.2±2.0和5.1±1.8),没有显著差异。然而,术后1小时,对照组的静息和平均移动疼痛评分明显高于PVB组(p<0.05)。其他时间点的疼痛评分和镇痛药的使用在组间具有可比性。观察到外科医生进行双侧PVB的初始益处,但在术后6小时减少。需要使用各种麻醉剂的未来研究来扩展PVB的效果。
    Posterior spinal fusion for adolescent idiopathic scoliosis (AIS) causes severe postoperative pain. Thoracic paravertebral block (PVB) provides excellent analgesia during various surgeries. We examined the effects of PVB on postoperative analgesia in children undergoing AIS surgery. In this study, 32 children scheduled for AIS surgery were randomly assigned to receive either PVB (PVB group) or no block (control group). The PVB group underwent surgeon-performed PVB with 0.5 mL/kg of adrenalized 0.2% ropivacaine on each side. The primary outcome was the pain score at rest at 6 h postoperatively. Secondary outcomes included pain scores both at rest and during movement and analgesic use for 48 h postoperatively. The postoperative resting pain scores at 6 h were comparable between the control and PVB groups (5.2 ± 2.0 and 5.1 ± 1.8, respectively), with no significant differences. However, at 1 h postoperatively, the control group showed significantly higher resting and mean moving pain scores than the PVB group (p < 0.05). The pain scores at other time points and analgesic use were comparable between the groups. Initial benefits of surgeon-performed bilateral PVB were observed but diminished at 6 h postoperatively. Future research using various anesthetics is needed to extend the effects of PVB.
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  • 文章类型: Case Reports
    具有碱性螺旋-环-螺旋(bHLH)的肌源性转录因子,如MYOD,Myogenin,MRF4和MYF5有助于肌肉分化和调节。位于12号染色体上的MYF5基因编码生肌因子5(MYF5),在骨骼和眼外肌发育和肋骨形成中起作用。发现MYF5变异可导致外眼肌麻痹伴肋骨和椎骨异常(EORVA),一种罕见的隐性疾病。迄今为止,据报道,MYF5中的三个纯合变体在四个无关家族的六个成员中引起EORVA.这里,我们提出了一个新的纯合MYF5移码变体,c.596dupAp.(Asn199Lysfs*49),导致蛋白质过早终止并出现眼外肌麻痹,上睑下垂,和脊柱侧弯的三个兄弟姐妹来自一个巴基斯坦血统的近亲家庭。现在发现了四个MYF5变体,在所有先天性眼肌麻痹病例中,均应考虑对眼外特征进行基因检测和儿科评估.
    Myogenic transcription factors with a basic helix-loop-helix (bHLH) such as MYOD, myogenin, MRF4, and MYF5 contribute to muscle differentiation and regulation. The MYF5 gene located on chromosome 12 encodes for myogenic factor 5 (MYF5), which has a role in skeletal and extraocular muscle development and rib formation. Variants in MYF5 were found to cause external ophthalmoplegia with rib and vertebral anomalies (EORVA), a rare recessive condition. To date, three homozygous variants in MYF5 have been reported to cause EORVA in six members of four unrelated families. Here, we present a novel homozygous MYF5 frameshift variant, c.596dupA p. (Asn199Lysfs*49), causing premature protein termination and presenting with external ophthalmoplegia, ptosis, and scoliosis in three siblings from a consanguineous family of Pakistani origin. With four MYF5 variants now discovered, genetic testing and paediatric assessment for extra-ocular features should be considered in all cases of congenital ophthalmoplegia.
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