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Postural balance in the comprehensive rehabilitation of adolescents with cleft lip and palate and maxillofacial anomalies: A literature review 唇腭裂和颌面畸形青少年综合康复中的姿势平衡:文献综述
Q4 Medicine Pub Date : 2024-04-11 DOI: 10.17816/ptors567935
Sofia A. Botsarova, M. Semyonov, S. V. Vissarionov
BACKGROUND: Patients with cleft lip and palate experience significant jaw relationship disorders and pathological bite formation, leading to changes in the motor activity of chewing muscles and postural balance disturbances. Most studies on postural control are conducted on patients with skeletal dentofacial anomalies and deformities without cleft lip and palate. The state of postural balance in children with cleft lip and palate requiring long-term complex medical rehabilitation, including bone-reconstructive operations on the jaw bones, remains poorly understood. AIM: To analyze publications dedicated to the evaluation of postural balance in adolescents with cleft lip and palate combined with jaw relationship disorders and pathological bite formation. MATERIALS AND METHODS: The article includes an analysis and review of several studies that investigated the state of postural balance in adolescents with cleft lip and palate, particularly at the final stages of growth and formation of the musculoskeletal system. Scientific articles published in various medical journals, monographs, dissertations, and materials from scientific symposiums related to this topic were used in the literature review. PubMed, Medline, Scopus, Web of Science, and RSCI were searched without language restrictions. The search depth was 23 years, and 64 studies were selected. RESULTS: The article analyzes literature data related to theories of the mechanism of mutual influence between postural balance and the dentofacial apparatus (disorders and pathological bite formation). The state of postural balance is influenced by various factors, including the craniosacral system and anomalies of the cervical spine. Patients with cleft lip and palate, hemifacial microsomia, and other craniofacial dysostoses with growth disorders of jaw bones experience an imbalance in the entire “descending” chain, causing postural disturbances, increased plantar pressure, increased foot rigidity, and changes in photogrammetry indicators, which should be considered when developing an individual rehabilitation program for these patients. The treatment of these patients without considering postural balance disorders can lead to temporomandibular joint pathologies, unstable results of the conservative orthodontic treatment of bite pathologies, and bone-reconstructive operations on jaws. CONCLUSIONS: The study highlights the ways of adaptation of the musculoskeletal system in the presence of occlusal relationship disorders and emphasizes the need to evaluate this influence comprehensively for the treatment of these patients. The limitations of the presented studies should be emphasized: insufficient sample size, lack of control groups and prospective studies, limited types of examination, and lack of studies dedicated to more severe anomalies of craniofacial development.
背景:唇腭裂患者会出现严重的下颌关系紊乱和病理性咬合形成,导致咀嚼肌运动活动发生变化和姿势平衡失调。大多数有关姿势控制的研究都是针对没有唇腭裂的颌面部骨骼异常和畸形患者进行的。对于需要进行长期复杂医疗康复(包括颌骨重建手术)的唇腭裂儿童的姿势平衡状况,人们仍然知之甚少。目的:分析专门评估唇腭裂合并颌骨关系紊乱和病理性咬合形成的青少年姿势平衡的出版物。材料与方法:文章分析并回顾了几项调查唇腭裂青少年姿势平衡状况的研究,尤其是在肌肉骨骼系统生长和形成的最后阶段。文献综述使用了各种医学期刊上发表的科学文章、专著、论文以及与该主题相关的科学研讨会资料。对 PubMed、Medline、Scopus、Web of Science 和 RSCI 进行了无语言限制的检索。检索深度为 23 年,共筛选出 64 项研究。结果:文章分析了与姿势平衡和牙面装置(紊乱和病理性咬合形成)之间相互影响机制理论相关的文献数据。姿势平衡状态受多种因素影响,包括颅骶系统和颈椎异常。唇腭裂、半面神经小畸形和其他颅面畸形并伴有颌骨生长障碍的患者会出现整个 "下降 "链的失衡,导致体位紊乱、足底压力增加、足部僵硬度增加和摄影测量指标的变化,在为这些患者制定个性化康复计划时应考虑到这些因素。在对这些患者进行治疗时,如果不考虑姿势平衡失调,可能会导致颞下颌关节病变、咬合病变的保守正畸治疗效果不稳定以及颌骨整形手术。结论:该研究强调了咬合关系紊乱时肌肉骨骼系统的适应方式,并强调在治疗这些患者时需要全面评估这种影响。需要强调的是这些研究的局限性:样本量不足、缺乏对照组和前瞻性研究、检查类型有限、缺乏针对更严重的颅面发育异常的研究。
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引用次数: 0
Archery injuries: A literature review 射箭伤害:文献综述
Q4 Medicine Pub Date : 2024-04-11 DOI: 10.17816/ptors625717
O. Agranovich, E. Petrova, S. Trofimova, Andrey V. Sapogovskiy, E. Melchenko, Evgeny D. Blagovechtchenski, K. A. Afonichev
BACKGROUND: Archery is one of the oldest human skills that survived to the present day. At first, it was used for hunting and war and later became a sport. The interest in archery has grown annually. Each type of sport has specific injuries. Information about archery-related injuries will allow us to develop preventive measures and help make this sport safer. The article will be useful for coaches, sports doctors, physiotherapists, and orthopedic surgeons. AIM: To present modern information about frequency, types of archery-related injuries, and preventive methods. MATERIALS AND METHODS: The publication search was performed in the PubMed/MEDLINE databases from 1978 to 2023 using combinations of OR, AND operators, and keywords: archery, archery injuries, rotator cuff injuries, arrow injuries, and overuse. Consequently, we extracted 49 foreign and domestic scientific sources. RESULTS: Archery injuries occur in 4.4 per 10,000 people involved in this sport. Acute injuries in archers are rare, mainly due to shooting errors and most often lead to soft tissue damage because of a fracture of a bow, arrow, or bowstring during a shot (83.3%) or as a result of touching the bowstring with a bow. Chronic injuries occur in 83.9% of archery athletes. The main risk factors for their occurrence include overuse, high repetitions during training, lack of strength of the athlete, and incorrect technique. Overuse (67.9%) is the most common cause of chronic tendon, ligament, and joint injuries. Injuries occurred in 30%–53% of cases in the shoulders (rotator cuff tear, scapular dyskinesia, and shoulder impingement syndrome), 12.8% in the elbow (medial and lateral epicondylitis and traumatic bursitis), 8.9%–19.9% in the spine and forearm (chronic tendovaginitis and tunnel syndromes). CONCLUSIONS: Proper training and safety measures help prevent acute injuries. Practicing archery techniques and strength training are the main measures of preventing muscle overuse and reducing the incidence of chronic injuries.
背景:射箭是人类最古老的技能之一,一直流传至今。射箭最初用于狩猎和战争,后来成为一种体育运动。人们对射箭的兴趣与日俱增。每种运动都有特定的伤害。有关射箭相关伤害的信息将有助于我们制定预防措施,使这项运动更加安全。这篇文章对教练、运动医生、理疗师和整形外科医生都很有用。目的:介绍射箭相关损伤的频率、类型和预防方法等现代信息。材料与方法:使用 OR、AND 运算符和关键词(射箭、射箭损伤、肩袖损伤、箭伤和过度使用)组合,在 PubMed/MEDLINE 数据库中对 1978 年至 2023 年期间的出版物进行检索。因此,我们提取了 49 篇国内外科学文献。结果:每万名射箭运动员中就有 4.4 人受到射箭伤害。射箭运动员的急性损伤很少见,主要是由于射箭失误造成的,最常见的原因是射箭过程中弓、箭或弓弦骨折(83.3%)或用弓触及弓弦导致软组织损伤。83.9% 的射箭运动员会出现慢性损伤。其发生的主要风险因素包括过度使用、训练中的高重复率、运动员力量不足以及不正确的技术。过度使用(67.9%)是造成慢性肌腱、韧带和关节损伤的最常见原因。30%-53%的损伤发生在肩部(肩袖撕裂、肩胛运动障碍和肩撞击综合征),12.8%发生在肘部(内侧和外侧上髁炎和创伤性滑囊炎),8.9%-19.9%发生在脊柱和前臂(慢性腱鞘炎和隧道综合征)。结论:适当的培训和安全措施有助于预防急性腱鞘炎:适当的训练和安全措施有助于预防急性损伤。练习射箭技术和力量训练是防止肌肉过度使用和减少慢性损伤发生率的主要措施。
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引用次数: 0
Triceps surae shortening in children 儿童肱三头肌缩短术
Q4 Medicine Pub Date : 2024-04-11 DOI: 10.17816/ptors625865
Andrey V. Sapogovskiy
BACKGROUND: The triceps surae is the main muscle that exerts propulsion power during walking and running. Its retraction changes the biomechanics of the foot, alters locomotion, and results in the secondary development of flatfoot deformity. Literature data on the clinical assessment of triceps surae retraction vary. AIM: To assess the threshold value of foot dorsiflexion in different clinical assessment methods of determining Achilles tendon shortening. MATERIALS AND METHODS: The study included the clinical assessment results of foot dorsiflexion in 167 patients (325 feet) with flatfeet aged 7–18 years. The foot dorsiflexion evaluation consisted of the assessment of isolated foot dorsiflexion and foot dorsiflexion with stabilization of the tarsal joints. To determine the involvement of the gastrosoleus complex in the pathological process, foot dorsiflexion was assessed with knee joint flexion and extension. The obtained data were subjected to correlation, regression, and Bland–Altman analyses. RESULTS: Strong correlations were found when foot dorsiflexion was assessed with the same knee joint position (assessment of isolated foot dorsiflexion and foot dorsiflexion with stabilized tarsal joints and knee joint flexion; the same tests with knee joint extension). Moderate correlations were noted when comparing foot dorsiflexion with knee joint extension and flexion. In the regression analysis, formulas were obtained according to which the threshold values of foot dorsiflexion were calculated in various variants during knee joint flexion and extension, indicating the retraction of the triceps surae: isolated foot dorsiflexion with knee joint extension 20°, isolated foot dorsiflexion with knee flexion 36°, and foot dorsiflexion with tarsal joint stabilization and knee extension 23°. CONCLUSIONS: Retraction of triceps surae in children with flatfeet equally involves the gastrocnemius and soleus. Differences in the magnitude of foot dorsiflexion with knee joint flexion and extension are the main factors in the retraction of the triceps surae to the gastrocnemius muscle.
背景:肱三头肌是步行和跑步时发挥推动力的主要肌肉。它的回缩会改变足部的生物力学,改变运动方式,并导致继发性扁平足畸形。有关肱三头肌回缩临床评估的文献数据各不相同。目的:评估不同临床评估方法在确定跟腱缩短时的足外翻阈值。材料与方法:研究包括 167 名 7-18 岁扁平足患者(325 只脚)的足外翻临床评估结果。足背屈评估包括孤立足背屈和稳定跗关节的足背屈评估。为了确定胃底肌复合体是否参与了病理过程,在膝关节屈伸的情况下对足背屈进行了评估。对获得的数据进行了相关、回归和布兰-阿尔特曼分析。结果:在相同的膝关节位置下评估足背屈时发现了很强的相关性(在稳定跗关节和膝关节屈曲的情况下评估孤立的足背屈和足背屈;在膝关节伸展的情况下进行相同的测试)。在比较足背屈与膝关节伸展和屈曲时,发现两者之间存在中度相关性。在回归分析中得出了一些公式,根据这些公式计算出了膝关节屈伸时足部外展的阈值,这些阈值表示肱三头肌的回缩:膝关节伸展时足部孤立外展 20°,膝关节屈曲时足部孤立外展 36°,跗关节稳定和膝关节伸展时足部外展 23°。结论:扁平足儿童的肱三头肌牵拉同样涉及腓肠肌和比目鱼肌。膝关节屈伸时足部外展幅度的差异是肱三头肌向腓肠肌回缩的主要因素。
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引用次数: 0
Is the psoas compartment block effective in eliminating pain in children after hip surgery? 腰方肌室阻滞能有效消除儿童髋关节手术后的疼痛吗?
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors501795
S. Vissarionov, V. A. Koriachkin, D. V. Zabolotskii, R. R. Safin, P. Bortulev, T. Baskaeva, Mikhail N. Dolgopolskii
BACKGROUND: Hip joint surgery is a highly traumatic surgical intervention. Currently, the anesthesia service in the clinic of H. Turner National Medical Research Center uses either prolonged epidural block with catheter placement in the lumbar spine at the LIII–LIV level or prolonged intravenous analgesia as the main method of pain syndrome treatment after hip joint surgery. Moreover, the potential of prolonged psoas compartment block has not been considered until recently. AIM: To evaluate the effectiveness of prolonged psoas compartment block for pain control in the early postoperative period after hip surgery in comparison with traditional methods of pain control. MATERIALS AND METHODS: This study analyzed the results of postoperative analgesia in 14 children after 15 surgeries in the hip joint, including 3 patients with prolonged psoas compartment block, 9 with prolonged epidural block, and 3 who received postoperative analgesia with systemic analgesics. One patient with bilateral congenital hip joint dislocation was anesthetized with prolonged psoas compartment block after the first operation for the first time and with prolonged epidural block after the second similar operation but on the other leg for the second time. Analgesia efficacy was assessed using the Wong–Baker scale, FLACC behavioral scale, and visual analog scale. RESULTS: All three patients with prolonged psoas compartment block required an addition of butorphanol tartrate (tramal) for good analgesia. Additional administration of opioid analgesics was not needed when a prolonged epidural block was initiated. CONCLUSIONS: Due to the continued need for additional administration of butorphanol tartrate, when prolonged epidural block was available, the use of prolonged psoas compartment block in children for pain relief in the early postoperative period after hip surgery was not considered appropriate.
背景:髋关节手术是一种创伤很大的外科手术。目前,H. Turner 国家医学研究中心诊所的麻醉服务采用在腰椎 LIII-LIV 水平放置导管的长时间硬膜外阻滞或长时间静脉镇痛作为治疗髋关节手术后疼痛综合征的主要方法。此外,直到最近才有人考虑到长时间腰大肌间隙阻滞的潜力。目的:与传统止痛方法相比,评估腰大肌室长时间阻滞在髋关节手术后早期止痛的有效性。材料与方法:本研究分析了 14 名儿童在接受 15 次髋关节手术后的术后镇痛结果,其中 3 名患者接受了长时间腰大肌室阻滞,9 名患者接受了长时间硬膜外阻滞,3 名患者术后接受了全身镇痛药镇痛。一名双侧先天性髋关节脱位患者在第一次手术后接受了腰大肌室长时间阻滞麻醉,在第二次类似手术后接受了硬膜外长时间阻滞麻醉,但第二次手术是在另一条腿上进行的。使用 Wong-Baker 量表、FLACC 行为量表和视觉模拟量表评估镇痛效果。结果:三位腰椎间室阻滞时间较长的患者都需要加用酒石酸丁吗啡醇(tramal)才能获得良好的镇痛效果。开始长时间硬膜外阻滞时不需要额外使用阿片类镇痛药。结论:由于在可以使用硬膜外长效阻滞时仍需额外使用酒石酸丁吗醇,因此在儿童髋关节手术后的术后早期使用腰椎间室长效阻滞止痛被认为是不合适的。
{"title":"Is the psoas compartment block effective in eliminating pain in children after hip surgery?","authors":"S. Vissarionov, V. A. Koriachkin, D. V. Zabolotskii, R. R. Safin, P. Bortulev, T. Baskaeva, Mikhail N. Dolgopolskii","doi":"10.17816/ptors501795","DOIUrl":"https://doi.org/10.17816/ptors501795","url":null,"abstract":"BACKGROUND: Hip joint surgery is a highly traumatic surgical intervention. Currently, the anesthesia service in the clinic of H. Turner National Medical Research Center uses either prolonged epidural block with catheter placement in the lumbar spine at the LIII–LIV level or prolonged intravenous analgesia as the main method of pain syndrome treatment after hip joint surgery. Moreover, the potential of prolonged psoas compartment block has not been considered until recently. \u0000AIM: To evaluate the effectiveness of prolonged psoas compartment block for pain control in the early postoperative period after hip surgery in comparison with traditional methods of pain control. \u0000MATERIALS AND METHODS: This study analyzed the results of postoperative analgesia in 14 children after 15 surgeries in the hip joint, including 3 patients with prolonged psoas compartment block, 9 with prolonged epidural block, and 3 who received postoperative analgesia with systemic analgesics. One patient with bilateral congenital hip joint dislocation was anesthetized with prolonged psoas compartment block after the first operation for the first time and with prolonged epidural block after the second similar operation but on the other leg for the second time. Analgesia efficacy was assessed using the Wong–Baker scale, FLACC behavioral scale, and visual analog scale. \u0000RESULTS: All three patients with prolonged psoas compartment block required an addition of butorphanol tartrate (tramal) for good analgesia. Additional administration of opioid analgesics was not needed when a prolonged epidural block was initiated. \u0000CONCLUSIONS: Due to the continued need for additional administration of butorphanol tartrate, when prolonged epidural block was available, the use of prolonged psoas compartment block in children for pain relief in the early postoperative period after hip surgery was not considered appropriate.","PeriodicalId":37631,"journal":{"name":"Pediatric Traumatology, Orthopaedics and Reconstructive Surgery","volume":"112 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138959568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Nonbacterial osteomyelitis of the vertebral bodies and frontal bone: A description of a rare clinical case and a review of the literature 椎体和额骨的非细菌性骨髓炎:一个罕见临床病例的描述和文献综述
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors529686
Aleksei N. Kozhevnikov, V. Zorin
BACKGROUND: Nonbacterial osteomyelitis is a chronic autoinflammatory skeletal disorder of unknown origin characterized by sterile bone lesions and presenting more frequently in children. Spinal manifestations are often common in nonbacterial osteomyelitis; however, cases with skull involvement, except for the mandible, are generally rare. CLINICAL CASE: Herein, we report the case of an 11-year-old girl presenting with multifocal thoracic vertebral and frontal bone lesions, which led to destructive sinusitis. Nonbacterial osteomyelitis was diagnosed after a bone biopsy, which showed no evidence of granuloma, malignancy, or histiocytes. The histopathological findings were nonspecific inflammatory changes. Ibandronic acid was used to treat nonbacterial osteomyelitis. Clinical signs begin to improve after the first infusion. After the fourth infusion of ibandronic acid, the inflammation was reduced and frontal bone structure and thoracic vertebrae were restored. DISCUSSION: Bisphosphonate therapy can be used in nonbacterial osteomyelitis when response to nonsteroidal anti-inflammatory drugs is not optimal. The efficacy of bisphosphonate therapy reaches 75%. However, bisphosphonate therapy in nonbacterial osteomyelitis has not been developed. The paper contained literature about rare cases with skull involvement and problems in bisphosphonate therapy in pediatric nonbacterial osteomyelitis. CONCLUSIONS: Nonbacterial osteomyelitis is a treatable condition, whose care depends on a referral to a rheumatologist.
背景:非细菌性骨髓炎是一种原因不明的慢性自身炎性骨骼疾病,以无菌性骨损伤为特征,多见于儿童。脊柱表现在非细菌性骨髓炎中很常见,但除下颌骨外,累及颅骨的病例一般很少见。临床病例:我们在此报告了一例 11 岁女孩的病例,她出现多灶性胸椎和额骨病变,并导致破坏性鼻窦炎。骨活检后诊断为非细菌性骨髓炎,活检未发现肉芽肿、恶性肿瘤或组织细胞。组织病理学检查结果为非特异性炎症变化。伊班膦酸用于治疗非细菌性骨髓炎。第一次输注后,临床症状开始改善。第四次输注伊班膦酸后,炎症减轻,额骨结构和胸椎得到恢复。讨论:当对非甾体抗炎药物的反应不理想时,双膦酸盐疗法可用于非细菌性骨髓炎。双膦酸盐疗法的有效率达到 75%。然而,用于非细菌性骨髓炎的双膦酸盐疗法尚未开发出来。本文收录了有关罕见颅骨受累病例的文献,以及双膦酸盐治疗小儿非细菌性骨髓炎的问题。结论:非细菌性骨髓炎是一种可治疗的疾病,其治疗需要转诊至风湿免疫科医生。
{"title":"Nonbacterial osteomyelitis of the vertebral bodies and frontal bone: A description of a rare clinical case and a review of the literature","authors":"Aleksei N. Kozhevnikov, V. Zorin","doi":"10.17816/ptors529686","DOIUrl":"https://doi.org/10.17816/ptors529686","url":null,"abstract":"BACKGROUND: Nonbacterial osteomyelitis is a chronic autoinflammatory skeletal disorder of unknown origin characterized by sterile bone lesions and presenting more frequently in children. Spinal manifestations are often common in nonbacterial osteomyelitis; however, cases with skull involvement, except for the mandible, are generally rare. \u0000CLINICAL CASE: Herein, we report the case of an 11-year-old girl presenting with multifocal thoracic vertebral and frontal bone lesions, which led to destructive sinusitis. Nonbacterial osteomyelitis was diagnosed after a bone biopsy, which showed no evidence of granuloma, malignancy, or histiocytes. The histopathological findings were nonspecific inflammatory changes. Ibandronic acid was used to treat nonbacterial osteomyelitis. Clinical signs begin to improve after the first infusion. After the fourth infusion of ibandronic acid, the inflammation was reduced and frontal bone structure and thoracic vertebrae were restored. \u0000DISCUSSION: Bisphosphonate therapy can be used in nonbacterial osteomyelitis when response to nonsteroidal anti-inflammatory drugs is not optimal. The efficacy of bisphosphonate therapy reaches 75%. However, bisphosphonate therapy in nonbacterial osteomyelitis has not been developed. The paper contained literature about rare cases with skull involvement and problems in bisphosphonate therapy in pediatric nonbacterial osteomyelitis. \u0000CONCLUSIONS: Nonbacterial osteomyelitis is a treatable condition, whose care depends on a referral to a rheumatologist.","PeriodicalId":37631,"journal":{"name":"Pediatric Traumatology, Orthopaedics and Reconstructive Surgery","volume":" 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138963120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of the serum concentration of growth factors and the informativeness of ultrasonography in studying the structural conditions of the osteoarticular system in children with type III osteogenesis imperfecta 在研究 III 型成骨不全症儿童骨关节系统结构状况时评估血清生长因子浓度和超声波检查的信息量
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors529677
Svetlana N. Luneva, T. I. Menshchikova, A. Aranovich, E. P. Vykhovanets, Kseniya P. Matveeva
BACKGROUND:The treatment of patients with osteogenesis imperfecta requires dynamic monitoring of the structural state and metabolism of the long bones. In the available literature, practically no data are available on the use of ultrasonography to assess the skeletal system in children with osteogenesis imperfecta. Increased expression of the members of the transforming growth factor-β superfamily in the serum has been described in several congenital bone diseases; however, this has not yet been examined in children with type III osteogenesis imperfecta. AIM:To examine the serum concentrations of growth factors in children with type III osteogenesis imperfecta relative to healthy children and evaluate the informativeness of ultrasonography for assessing the state of the osteoarticular system in type III osteogenesis imperfecta and justify the feasibility of its use in this pathology. MATERIALS AND METHODS: Children aged 3–7 years with type III osteogenesis imperfecta (n= 12) were examined. In the blood serum, bone-mineral metabolism parameters were determined onaHitachi/BM 902 analyzer (Japan), and the contents of growth factors and their receptors were determined by enzyme-linked immunosorbent assay onaThermo Fisher Scientific analyzer (USA). Ultrasound examinations were performed usinganAVISUS Hitachi device (Japan). Statistical processing was carried out using the Attestat program (I.P. Gaidyshev). Quantitative data are presented as medians and quartiles (Me [Q1; Q3]) for samples with non-normal distribution. In cases with normal distribution, quantitative data are presented as M ± σ,p 0.05. RESULTS: In patients with osteogenesis imperfecta, the degree of bone tissue mineralization and bone turnover rates were higher and the collagen content was lower than those of their healthy peers. Fibroblast growth factor-basic underwent the greatest changes; a decrease in the content of the vascular endothelial growth factor (VEGF)-R3 receptor was accompanied by multiple increases in VEGF and VEGF-R2. Ultrasonography identified areas of deformation and multiple fractures in the area of the diaphyses and metaphyses of the femur, tibia, hip, and knee joints. CONCLUSIONS:Predominance was noted toward the production of growth factors responsible for the activation of osteoclastogenesis. The content of growth factors responsible for osteoclast inhibition and osteoblast activation is normal or slightly changed. Ultrasonography has demonstrated high informativeness inadetailed assessment of the osteoarticular system in patients with osteogenesis imperfecta, which allows us to recommend this noninvasive technique for wider use in this disease.
背景:治疗成骨不全症患者需要对长骨的结构状态和新陈代谢进行动态监测。在现有文献中,几乎没有关于使用超声波检查评估成骨不全症儿童骨骼系统的数据。在一些先天性骨病中,血清中转化生长因子-β超家族成员的表达量有所增加,但尚未对 III 型成骨不全症患儿的血清中转化生长因子-β超家族成员的表达量进行研究。目的:研究Ⅲ型成骨不全患儿血清中生长因子的浓度与健康儿童的比较,评估超声波检查在评估Ⅲ型成骨不全患儿骨关节系统状况方面的信息量,并论证超声波检查在该病症中应用的可行性。材料与方法:研究对象为3-7岁的III型成骨不全症儿童(12人)。血清中的骨矿物质代谢参数由日本日立/BM 902 分析仪测定,生长因子及其受体的含量由美国泰尔茂 Fisher Scientific 分析仪通过酶联免疫吸附法测定。超声检查使用日立(日本)AVISUS 设备进行。使用 Attestat 程序(I.P. Gaidyshev)进行统计处理。对于非正态分布的样本,定量数据以中位数和四分位数(Me [Q1; Q3])表示。对于正态分布的样本,定量数据以 M ± σ 表示,P 0.05。结果:与健康人相比,成骨不全症患者的骨组织矿化程度和骨转换率更高,胶原蛋白含量更低。成纤维细胞生长因子-基础的变化最大;血管内皮生长因子(VEGF)-R3 受体的含量减少,而血管内皮生长因子和血管内皮生长因子-R2 的含量却增加了许多。超声波检查在股骨、胫骨、髋关节和膝关节的骨骺和骨骺区域发现了变形区和多处骨折。结论:患者体内主要产生的生长因子能激活破骨细胞的生成。抑制破骨细胞和激活成骨细胞的生长因子含量正常或略有变化。超声波检查在对成骨不全症患者的骨关节系统进行详细评估时显示出了很高的信息量,因此我们建议在该疾病中更广泛地使用这种无创技术。
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引用次数: 0
Phenotypic variability in children with Bruck syndrome type 2: Clinical cases 布吕克综合征 2 型儿童的表型变异:临床病例
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors569365
S. Trofimova, Evgenija A. Kochenova, O. Agranovich, D. S. Buklaev, E. S. Merkuryeva, T. Markova
BACKGROUND: Bruck syndrome is a rare disorder that features osteogenesis imperfecta, combined with severe congenital joint contractures often with pterygia, short stature, severe limb deformities, and progressive scoliosis. Its two forms, Bruck syndrome types 1 and 2, have similar clinical manifestations without osomal recessive inheritance and are caused by pathogenic variants of the nucleotide sequences in the FKBP10 and PLOD2 genes, respectively. CLINICAL CASES: The article demonstrates phenotypic and radiographic features as well as laboratory values of siblings with Bruck syndrome type 2 (a 10-year-old boy and a 13-year-old girl) born to healthy parents in a consanguineous marriage. The boy had congenital flexion contractures of the knee and elbow joints, few fractures, and severe kyphoscoliosis. The girl had no congenital joint contractures but had kyphoscoliosis, more severe osteoporosis, and a history of having more fractures than her younger brother. DISCUSSION: The cases demonstrated the significant phenotypic intrafamilial variability of Bruck syndrome type 2, caused by a newly identified homozygous variant c.1885AG (p.Thr629Ala) in PLOD2, which consists of varying degrees of osteoporosis, and the presence and severity of contractures. CONCLUSIONS: The description of the given clinical observation was made to draw attention to a rare pathology and expand doctors’ knowledge about the variability of clinical manifestations of Bruck syndrome. Genetic diagnostics is necessary for the timely diagnosis of Bruck syndrome, determining the prognosis and developing patient management techniques.
背景:布鲁克综合征是一种罕见的疾病,其特征是成骨不全症,合并严重的先天性关节挛缩,通常伴有翼状胬肉、身材矮小、严重的肢体畸形和进行性脊柱侧弯。布吕克综合征有两种类型,即布吕克综合征 1 型和 2 型,临床表现相似,但无单侧隐性遗传,分别由 FKBP10 和 PLOD2 基因核苷酸序列的致病变异引起。临床病例:文章展示了患有布吕克综合征 2 型的兄弟姐妹(一名 10 岁男孩和一名 13 岁女孩)的表型和影像学特征以及实验室数值。男孩有先天性膝关节和肘关节屈曲挛缩、少数骨折和严重的脊柱后凸。女孩没有先天性关节挛缩,但有脊柱后凸、更严重的骨质疏松症,而且比弟弟有更多的骨折史。讨论:这些病例表明,布吕克综合征 2 型(由新发现的 PLOD2 同源变异 c.1885AG(p.Thr629Ala)引起)具有显著的家族内表型变异性,包括不同程度的骨质疏松症、挛缩的存在和严重程度。结论:对临床观察结果的描述旨在引起人们对一种罕见病症的关注,并扩大医生对布鲁克综合征临床表现多变性的认识。基因诊断对于及时诊断布吕克综合征、确定预后和开发患者管理技术非常必要。
{"title":"Phenotypic variability in children with Bruck syndrome type 2: Clinical cases","authors":"S. Trofimova, Evgenija A. Kochenova, O. Agranovich, D. S. Buklaev, E. S. Merkuryeva, T. Markova","doi":"10.17816/ptors569365","DOIUrl":"https://doi.org/10.17816/ptors569365","url":null,"abstract":"BACKGROUND: Bruck syndrome is a rare disorder that features osteogenesis imperfecta, combined with severe congenital joint contractures often with pterygia, short stature, severe limb deformities, and progressive scoliosis. Its two forms, Bruck syndrome types 1 and 2, have similar clinical manifestations without osomal recessive inheritance and are caused by pathogenic variants of the nucleotide sequences in the FKBP10 and PLOD2 genes, respectively. \u0000CLINICAL CASES: The article demonstrates phenotypic and radiographic features as well as laboratory values of siblings with Bruck syndrome type 2 (a 10-year-old boy and a 13-year-old girl) born to healthy parents in a consanguineous marriage. The boy had congenital flexion contractures of the knee and elbow joints, few fractures, and severe kyphoscoliosis. The girl had no congenital joint contractures but had kyphoscoliosis, more severe osteoporosis, and a history of having more fractures than her younger brother. \u0000DISCUSSION: The cases demonstrated the significant phenotypic intrafamilial variability of Bruck syndrome type 2, caused by a newly identified homozygous variant c.1885AG (p.Thr629Ala) in PLOD2, which consists of varying degrees of osteoporosis, and the presence and severity of contractures. \u0000CONCLUSIONS: The description of the given clinical observation was made to draw attention to a rare pathology and expand doctors’ knowledge about the variability of clinical manifestations of Bruck syndrome. Genetic diagnostics is necessary for the timely diagnosis of Bruck syndrome, determining the prognosis and developing patient management techniques.","PeriodicalId":37631,"journal":{"name":"Pediatric Traumatology, Orthopaedics and Reconstructive Surgery","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138961822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and radiological characteristics of two patients with osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygotic variant in the LRP5 gene 两名由 LRP5 基因致病性同卵变异引起的骨质疏松症-假胶质瘤综合征患者的临床和放射学特征
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors607380
E. S. Merkuryeva, T. Markova, V. Kenis, V. Kadyshev, Tatiana S. Nagornova, Elena V. Noskova, E. Dadali
BACKGROUND: Osteoporosis–pseudoglioma syndrome (OMIM #259770) is an ultrarare autosomal recessive disease characterized by congenital or infant blindness, severe osteoporosis, and spontaneous bone fractures. The syndrome is caused by pathogenic variants in the LRP5 gene, which encodes a protein involved in the transmission of signals in the Wnt/β-catenin signaling pathway. To date, 77 pathogenic variants associated with osteoporosis–pseudoglioma syndrome have been registered in LRP5, mainly localized in the second and third beta-propeller domains of the protein, which have a high affinity for the Wnt ligand. CLINICAL CASES: Two siblings presented with clinical manifestations of osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygous missense variant c.1481GA (p.Arg494Gln) in LRP5. The phenotype of the patients was characterized by a combination of blindness, low bone-mineral density, short stature, and fractures and deformities of long tubular bones and the spine. DISCUSSION: The rarity of the osteoporosis–pseudoglioma syndrome and the similarity of the clinical manifestations of various skeletal disorders and their genetic heterogeneity lead to a late diagnosis and treatment. CONCLUSIONS: We are the first to present the clinical, radiological, and genetic characteristics of two siblings with clinical manifestations of osteoporosis–pseudoglioma syndrome. Its rarity necessitates detailed description of the clinical and genetic characteristics of this syndrome. Molecular genetic testing is an important part of a comprehensive diagnosis.
背景:骨质疏松症-假胶质瘤综合征(OMIM #259770)是一种极罕见的常染色体隐性遗传病,以先天性或婴儿失明、严重骨质疏松症和自发性骨折为特征。该基因编码一种参与 Wnt/β-catenin 信号通路信号传递的蛋白质。迄今为止,与骨质疏松症-假性胶质瘤综合征相关的 LRP5 基因致病变体已有 77 个,主要分布在该蛋白的第二和第三β-螺旋桨结构域,这两个结构域对 Wnt 配体具有很高的亲和力。临床病例:两个兄弟姐妹出现了骨质疏松症-假胶质瘤综合征的临床表现,其病因是 LRP5 中的致病性同源错义变异 c.1481GA (p.Arg494Gln)。患者的表型特征是失明、骨矿物质密度低、身材矮小、骨折以及长管状骨和脊柱畸形。讨论:骨质疏松症-假性胶质瘤综合征的罕见性、各种骨骼疾病临床表现的相似性及其遗传异质性导致了诊断和治疗的滞后。结论:我们首次展示了两个具有骨质疏松症-假性胶质瘤综合征临床表现的兄弟姐妹的临床、放射学和遗传学特征。骨质疏松症-假性胶质瘤综合征十分罕见,因此有必要详细描述该综合征的临床和遗传特征。分子基因检测是综合诊断的重要组成部分。
{"title":"Clinical and radiological characteristics of two patients with osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygotic variant in the LRP5 gene","authors":"E. S. Merkuryeva, T. Markova, V. Kenis, V. Kadyshev, Tatiana S. Nagornova, Elena V. Noskova, E. Dadali","doi":"10.17816/ptors607380","DOIUrl":"https://doi.org/10.17816/ptors607380","url":null,"abstract":"BACKGROUND: Osteoporosis–pseudoglioma syndrome (OMIM #259770) is an ultrarare autosomal recessive disease characterized by congenital or infant blindness, severe osteoporosis, and spontaneous bone fractures. The syndrome is caused by pathogenic variants in the LRP5 gene, which encodes a protein involved in the transmission of signals in the Wnt/β-catenin signaling pathway. To date, 77 pathogenic variants associated with osteoporosis–pseudoglioma syndrome have been registered in LRP5, mainly localized in the second and third beta-propeller domains of the protein, which have a high affinity for the Wnt ligand. \u0000CLINICAL CASES: Two siblings presented with clinical manifestations of osteoporosis–pseudoglioma syndrome caused by a pathogenic homozygous missense variant c.1481GA (p.Arg494Gln) in LRP5. The phenotype of the patients was characterized by a combination of blindness, low bone-mineral density, short stature, and fractures and deformities of long tubular bones and the spine. \u0000DISCUSSION: The rarity of the osteoporosis–pseudoglioma syndrome and the similarity of the clinical manifestations of various skeletal disorders and their genetic heterogeneity lead to a late diagnosis and treatment. \u0000CONCLUSIONS: We are the first to present the clinical, radiological, and genetic characteristics of two siblings with clinical manifestations of osteoporosis–pseudoglioma syndrome. Its rarity necessitates detailed description of the clinical and genetic characteristics of this syndrome. Molecular genetic testing is an important part of a comprehensive diagnosis.","PeriodicalId":37631,"journal":{"name":"Pediatric Traumatology, Orthopaedics and Reconstructive Surgery","volume":" 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138962983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of the modified Dunn procedure on the spine–pelvis relationship in children with severe slipped capital femoral epiphysis 改良邓恩手术对严重股骨头骺滑脱儿童脊柱骨盆关系的影响
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors585183
Dmitrii B. Barsukov, P. Bortulev, I. Pozdnikin, T. Baskaeva
BACKGROUND: Slipped capital femoral epiphysis (SCFE) is one of the most severe hip joint diseases in children. It is characterized by the development of unilateral or bilateral deformity of the proximal femoral epimetaphysis of varying degrees. The pronounced deformity of the femoral component of the affected joint leads to pelvic retroversion, decreased lumbar lordosis, increased thoracic kyphosis (TK), and formation of type I (hypolordotic) vertical posture according to the Roussouly classification, contributing to degenerative and dystrophic processes in the lumbosacral spine. At present, no data in the literature present the effect of surgical treatment on frontal and sagittal spine–pelvis relationships in the patients examined. AIM:To performacomparative radiological evaluation of the sagittal spine–pelvis relationship in children with severe SCFE before and after the modified Dunn procedure. MATERIALS AND METHODS:The study included 30 patients (30 hip joints) aged 14–18 years with severe SCFE characterized byaposterior epiphysis displacement of 60° and downward of no more than 10° in one of the joints and no displacement (preslip stage) in the other. All children underwent the modified Dunn procedure on one side and fixation of the epiphysis of the femoral head withacannulated screw on the other side. Before and after surgery, the patients underwent clinical and radiologic examinations. Standing radiographs were used to evaluate lumbar lordosis, TK, pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), and sagittal vertical axis (SVA). The obtained data were analyzed statistically. RESULTS:At the examination 3–3.5 years after the abovementioned interventions,apronounced increase was noted in the mean PI value, which began to correspond to type III (harmonious) of upright posture according to the Roussouly classification.Achange was noted in the mean values of positional indices PT (decreased) and SS (increased), and pelvic retroversion disappeared. The mean global lumbar lordosis (GLL) and lumbar lordosis increased, which led toadecrease in TK and the mean value of TK. All clinical observations showedasignificant decrease in the mean global sagittal balance index (the sagittal vertical axis (SVA)) and absence of torso imbalance. CONCLUSIONS:After performing the modified Dunn procedure on the one side and fixation of the epiphysis of the femoral head withascrew on the other side, children with severe SCFE demonstrated improvements in all the studied indices of sagittal spine–pelvis ratios. Consequently, the type of vertical posture according to the Roussouly classification changes from type I (hypolordotic) to type III (harmonious), and the probability of degenerative and dystrophic process development in the lumbosacral spine decreases.
背景:股骨头骺滑脱(SCFE)是儿童最严重的髋关节疾病之一。其特点是股骨近端骨骺出现不同程度的单侧或双侧畸形。受累关节股骨部分的明显畸形会导致骨盆后倾、腰椎前凸减少、胸椎后凸(TK)增加,并根据 Roussouly 分类法形成 I 型(脊柱后凸)垂直姿势,从而导致腰骶椎的退行性和萎缩过程。目前,文献中还没有数据显示手术治疗对受检患者的正面和矢状脊柱骨盆关系的影响。目的:对重度SCFE患儿在改良Dunn手术前后的脊柱骨盆矢状面关系进行比较放射学评估。材料与方法:该研究纳入了30名年龄在14-18岁的重度SCFE患者(30个髋关节),其特征是其中一个关节的骨骺后方移位60°且向下不超过10°,另一个关节无移位(前唇阶段)。所有患儿均接受了一侧的改良Dunn手术和另一侧的股骨头骨骺用annaculated螺钉固定术。手术前后,患者接受了临床和放射学检查。立位X光片用于评估腰椎前凸、TK、骨盆内陷(PI)、骨盆倾斜(PT)、骶骨斜度(SS)和矢状纵轴(SVA)。获得的数据将进行统计分析。结果:在进行上述干预3-3.5年后的检查中,PI的平均值明显增加,根据Roussouly分类法,开始符合直立姿势的III型(和谐)。总体腰椎前凸(GLL)和腰椎前凸的平均值增加,导致 TK 和 TK 平均值下降。所有临床观察结果表明,平均整体矢状平衡指数(矢状垂直轴(SVA))显著下降,且无躯干失衡。结论:一侧实施改良邓恩手术,另一侧使用螺钉固定股骨头骨骺后,重度SCFE患儿的矢状脊柱-骨盆比例的所有研究指标均有所改善。因此,根据罗苏里(Roussouly)分类法,垂直姿势的类型从 I 型(脊柱发育不良)变为 III 型(和谐),腰骶椎发生退行性病变和萎缩性病变的概率降低。
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引用次数: 0
Comparative evaluation of contusion spinal cord injury models from ventral and dorsal approaches in rabbits in an experiment 在实验中对兔子腹侧和背侧挫伤脊髓损伤模型进行比较评估
Q4 Medicine Pub Date : 2023-12-19 DOI: 10.17816/ptors568295
A. S. Shabunin, Margarita V. Savina, Timofey S. Rybinskikh, Anna D. Dreval, Vladislav D. Safarov, Platon А. Safonov, Andrej M. Fedyuk, D. Sitovskaia, Nikita M. Dyachuk, Alexandra S. Baidikova, Lidia S. Konkova, Olga L. Vlasova, S. Vissarionov
BACKGROUND: Contemporary experimental models for spinal cord injury studies are mainly based on spinal cord injury in rats and mice. Modeling of experimental spinal cord injuries is generally performed from the dorsal approach, which excludes its injury as a result of compression by the fragments of the fractured vertebral body and significantly restricts the application of the results obtained from clinical practice. AIM: To develop and create contusional spinal cord injury model from the ventral approach with its subsequent comparison with the contusional spinal cord injury model from the dorsal approach. MATERIALS AND METHODS: The study examined 20 female Soviet Chinchilla rabbits weighing 3.5–4.5 kg. The rabbits were subjected to standardized spinal cord injuries from the ventral and dorsal approaches at the LII level. Somatosensory- and motor-evoked potentials, H-reflex, were recorded in all experimental animals before injury, immediately after, and 3 and 8 h after injury. Histological studies were also performed using qualitative and semiquantitative analyses of biopsy samples of damaged areas and assessing the number of dystrophic neurons over time. The results of neurophysiological and histological examinations of the spinal cord in cases of ventral and dorsal trauma were statistically processed. RESULTS: When modeling spinal cord injury from the ventral approach, in comparison with the model from the dorsal approach, more significant damage is detected. As a result of the injury factor, the dysfunction of both neurons at the traumatization level and peripheral neurons below the injury zone was revealed; however, as histological examinations have shown, in contrast to the dorsal approach, mild hemorrhage was observed in the ventral approach. CONCLUSIONS: The results obtained indicate a more significant and strict contusion mechanism of the spinal cord injury model from the ventral approach and the maximum proximity of the resulting model in a clinical situation. In the future, the experimental model of the contusional spinal cord injury in a laboratory animal can be used in chronic experiments.
背景:当代脊髓损伤研究的实验模型主要基于大鼠和小鼠的脊髓损伤。实验性脊髓损伤模型一般从背侧入路进行,这就排除了脊髓损伤是由骨折椎体碎片压迫造成的,大大限制了临床实践结果的应用。目的:建立腹侧入路脊髓挫伤模型,并与背侧入路脊髓挫伤模型进行比较。材料与方法:研究对象为 20 只体重为 3.5-4.5 千克的雌性苏联栗鼠。这些兔子的 LII 水平分别受到腹侧和背侧的标准化脊髓损伤。所有实验动物在受伤前、受伤后立即以及受伤后 3 和 8 小时内均记录了躯体感觉和运动诱发电位以及 H 反射。此外,还对受损区域的活检样本进行了定性和半定量分析,并评估了随着时间推移萎缩神经元的数量。对脊髓腹侧和背侧创伤的神经电生理和组织学检查结果进行了统计学处理。结果:在建立腹侧脊髓损伤模型时,与背侧脊髓损伤模型相比,脊髓损伤更为严重。由于损伤因素,创伤水平的神经元和损伤区以下的外周神经元都出现了功能障碍;然而,组织学检查显示,与背侧入路相比,腹侧入路观察到轻度出血。结论:研究结果表明,腹侧入路脊髓损伤模型的挫伤机制更明显、更严格,所产生的模型也更接近临床情况。今后,实验动物脊髓挫伤实验模型可用于慢性实验。
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引用次数: 0
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Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
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