Functional outcome of Sofield procedure in the upper limb in osteogenesis imperfecta

The functional outcome of Sofield procedures done in the upper limb of five patients with severe osteogenesis imperfecta was studied. Fourteen procedures were done. Mean follow-up was more than 10 years. Function of the upper limb improved in all patients. No patient lost function.     

Osteogenesis imperfecta--lower limb in osteogenesis imperfecta]

The author of this paper asses lower extremity in 141 children with osteogenesis imperfecta, treated in University Children Hospital in Krakow in years 1988-2002: number of fractures, presence of the deformation, radiological findings, possibility of walking. Only 3 from this group did not suffer from lower extremity long bone fractures. In remaining patients, the number of fractures was 4 on average with type I and IV, and 46 fractures in children with type III osteogenesis imperfecta in each patient. Perinatal fractures appeared in 26 children with type II or III oi. In remaining, first fracture happened at the age of 23 months on average. 21% of the children had never walked before, and the rest of them started pionisation at the age of 20 months on average. Lower extremities deformations appeared in 113 children (80%). We assessed typical deformity pattern, based on clinical and radiological findings: varisation of femur and antecurvation of the tibia. The movement limitations in hips or knees was found in 29 children. Radiological changes in growth cartilage, so-called "popcorn calcification" were found in 15 children with type III of osteogenesis imperfecta.     

Osteogenesis imperfecta--upper limb in osteogenesis imperfecta]

The authors of this paper discuss upper extremity in children with osteogenesis imperfecta: fractures frequency, presence of the deformity, radiological data as well as ability to use the limb. Fractures of the upper extremity and shoulder ring occurred in 93 (66%) among 141 children with oi that were treated in the ward in years 1988-2002. Most of the fractures occurred in children with type III oi in Sillence classification, this was a group were deformities appeared most frequently. Generally, deformities were found in 33% of the children with oi. Typical arm deformity was posterior bending, in forearm dorsal bending. Varus elbow occurred often (11%). We found in the x-rays capitis radius dislocation (3.5%), interosseus membrane ossification (2.1%), pseudoarthrosis of the forearm bones (2.1%). The causes of the deformities and opportunities to prevent them were discussed.     

Operative management of long-bone of the upper limb in children with osteogenesis imperfecta]

The authors present their own experiences in operative treatment of the upper extremities in 24 children with osteogenesis imperfecta (oi) among 141 treated in years 1988-2002, in whom 34 operations were performed. In one subgroup were children presented with bone fractures: olecranon six, humerus shaft five, lateral condyle of the humerus one, humerus supracondylar fracture one. In second subgroup included children with upper limb deformities following procedures were performed: correction of cubitus varus three, humerus osteoclasis two, dislocated radial head resection, forearm correction thirteen. Results after operative management of fractures were very satisfying for all the children--proper fracture healing, axis of the bones was straight and a full mobility of the joints was achieved. In second group: partial deformation recurrence after cubitus varus correction, good result on the one side and lack of correction an the other after humerus osteoclasis; bad result in terms of elbow mobility after radial head resection; good results (despite complicated healing and wires migration) in terms of axis correction after forearm bones osteotomies. Surgery of the upper limbs in osteogenesis imperfecta is very challenging but it is worth to perform, as it improves function.     

Results of a bone splint technique for the treatment of lower limb deformities in children with type I osteogenesis imperfecta

Background:

Children with osteogenesis imperfecta (OI) can suffer from frequent fractures and limb deformities, resulting in impaired ambulation. Osteopenia and thin cortices complicate orthopedic treatment in this group. This study evaluates the clinical results of a bone splint technique for the treatment of lower limb deformities in children with type I OI. The technique consists of internal plating combined with cortical strut allograft fixation.

Materials and Methods:

We prospectively followed nine children (five boys, four girls) with lower limb deformities due to type I OI, who had been treated with the bone splint technique (11 femurs, four tibias) between 2003 and 2006. The fracture healing time, deformity improvement, ambulation ability and complications were recorded to evaluate treatment effects.

Results:

At the time of surgery the average age in our study was 7.7 years (range 5-12 years). The average length of followup was 69 months (range 60-84 months). All patients had good fracture healing with an average healing time of 14 weeks (range 12-16 weeks) and none experienced further fractures, deformity, or nonunion. The fixation remained stable throughout the procedure in all cases, with no evidence of loosening or breakage of screws and the deformity and mobility significantly improved after surgery. Of the two children confined to bed before surgery, one was able to walk on crutches and the other needed a wheelchair. The other seven patients could walk without walking aids or support like crutches.

Conclusions:

These findings suggest that the bone splint technique provides good mechanical support and increases the bone mass. It is an effective treatment for children with OI and lower limb deformities.     

Effect of lower limb Sofield procedure on ambulation in osteogenesis imperfecta

Ambulation status was evaluated in 34 patients pre- and post-Sofield procedure in patients with osteogenesis imperfecta. Three percent had improved ambulation, 42.4% remained the same and 54.6% were worse. Only 41.2% were ambulating postoperatively compared to 73.5% preoperatively. The Sofield procedure did not improve ambulation status.     

Functional significance of bone density measurements in children with osteogenesis imperfecta

BACKGROUND: The treatment of osteogenesis imperfecta has been directed at improvement of bone mineral density, yet the importance of bone mineral density in predicting functional and clinical outcome in this patient population has not been demonstrated. We used a validated functional outcome measure to identify the relationship between bone mineral density and physical function in children with osteogenesis imperfecta, and we also evaluated the relationship of bone mineral density to the rate of surgery and fracture in patients with osteogenesis imperfecta. METHODS: Twenty patients (age range, four to seventeen years) with osteogenesis imperfecta who had undergone bone mineral densitometry as measured by dual x-ray absorptiometry of the lumbar spine, wrist, and proximal aspect of the femur between November 1999 and April 2001 were retrospectively analyzed. Functional outcome was measured with use of the Pediatric Outcomes Data Collection Instrument. These questionnaires were completed by the parents of all twenty patients and, in addition, by fifteen patients in the study who were between the ages of eleven and eighteen years. Fracture and surgery rates were calculated on the basis of the number of documented fractures and surgical procedures that the patient had had from the time of the initial presentation until the time of the latest follow-up visit. RESULTS: There were significant relationships between the bone mineral density of the lumbar spine and the scores obtained on the parent-completed questionnaires with regard to upper-extremity functioning (r = 0.57, p < 0.01), transfers and basic mobility (r = 0.55, p = 0.01), sports and physical functioning (r = 0.55, p = 0.01), and global functioning (r = 0.60, p < 0.004). There were also significant relationships between the bone mineral density of the wrist and the scores obtained on the child-completed questionnaires with regard to upper-extremity functioning (r = 0.82, p < 0.01), sports and physical functioning (r = 0.76, p < 0.01), and global functioning (r = 0.83, p = 0.001). There were significant negative relationships between the bone mineral density of the lumbar spine and the rate of fractures (r = -0.69, p < 0.001) and the bone mineral density of the lumbar spine and the rate of surgery (r = -0.60, p < 0.01). CONCLUSIONS: There is a relationship between bone mineral density and the functional outcome, rate of fracture, and rate of surgery in patients with osteogenesis imperfecta. Bone mineral density appears to be an indicator of disease severity and may be predictive of long-term functional outcome. To establish specific guidelines for treatment, more data on normative bone-mineral density in children with osteogenesis imperfecta will be needed.     

Non-union in osteogenesis imperfecta

A retrospective study of 44 patients with osteogenesis imperfecta treated over a 14-year period was undertaken to determine the frequency and pattern of non-unions of long bones in these patients. Nine non-unions were encountered in eight patients. Four of these non-unions developed at sites of osteotomies performed at the time of intramedullary rodding. These children have remained asymptomatic, however, without appreciable limitations in spite of the non-union. Five atrophic or gap non-unions that occurred in the humerus were following inadequately treated fractures. These children were disabled on account of the non-unions. In three patients all attempts at obtaining union failed. The other two patients were braced. We conclude that non-union in osteogenesis imperfecta is not a very rare phenomenon. We also recommend that all fractures in children with osteogenesis imperfecta must be treated with appropriate immobilization to prevent a gap non-union developing, since gap non-unions are exceedingly difficult to treat.     

Advances in osteogenesis imperfecta

Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogenesis imperfecta is being expanded to include a greater range of subgroups of patients. Attempts are being made to identify the genes causing forms of osteogenesis imperfecta and related syndromes that are not caused by mutations of the Type I collagen genes. In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of the disease significantly. Somatic cell therapy, using allogeneic bone marrow and mesenchymal stromal cell transplantation, are in their early phases of development for use in humans with osteogenesis imperfecta. Somatic gene therapy, which aims to inactivate the mutation, is being evaluated in laboratory and animal studies.     

成骨不全环状RNA生物信息学分析

目的对成骨不全血清中差异表达的miR-21、miR-26a、miR-29a、miR-29b、miR-30e、miR-34c、miR-133a、miR-145、miR-210、miR-489与miR-1297等共11种miRNAs进行circRNAs及其靶基因的预测,同时分析其与circRNAs及靶基因间的相互作用。方法采用starbase软件对11种差异性表达miRNAs相关circRNAs进行预测,将得到的miRNA-circRNA进行频数分布分析并通过cytoscape软件进行网络分析寻找核心分子。采用miRWALK软件对11种差异性表达miRNAs相关靶基因进行预测,将得到的miRWALK-靶基因进行频数分布分析并通过cytoscape,DAVID软件进行网络分析寻找核心分子。结果 Starbase软件对11种不同miRNAs所预测的靶circRNAs的总数量为222个,非重叠circRNAs为141个。其中MIB1_hsa_circ_000886,MIB1_hsa_circ_002013,CPNE1_hsa_circ_000657,CYP4F3_hsa_circ_001395,KIAA1586_hsa_circ_001439与其中4种miRNA相互作用。另有14个circRNAs与3种miRNA相互作用。miRWALK软件对11种不同miRNAs所预测的靶基因中CNOT6、ELF2、NAV3等基因在不同数量级数据库中与相应不同种miRNAs作用密切。通过对11种miRNA相应circRNA以及靶基因生物学预测分析得到YES1基因与miR-133a、miR-145以及FAT1_hsa_circ_000713与LMNB2_hsa_circ_001499之间存在相互作用。PPP2CA与miR-29a、miR-29b、miR-133a以及KIAA1586_hsa_circ_001439之间存在相互作用。NTN4和SRGAP1与miR-26a、miR-145以及RFC1_hsa_circ_001649之间存在相互作用。结论本研究对成骨不全血清中差异表达的11种miRNAs及其相互作用的circRNAs、靶基因与相关信号通路进行了网络分析与预测,为进一步分析之间相互作用奠定了基础。     

Functional results of operation in osteogenesis imperfecta: elongating and nonelongating rods

Gait capacity, operative intervention, and complications of operation were evaluated in 20 patients with osteogenesis imperfecta (OI). Thirty-two Bailey-Dubow (B-D) rods and 24 nonelongating rods were used. Postoperatively, gait capacity improved in eight patients, regressed in three, and remained unchanged in nine. No preoperative ambulator regressed to a nonambulatory status. The Sillence disease type was not a prognostic indicator of giat capacity. The complication rate was 72% for the B-D rod and 50% for the nonelongating rod, although the percentage requiring reoperation was similar for both types of nails. There was no difference in longevity between the two nails.     

多段截骨矫形髓内固定治疗儿童成骨不全症致下肢畸形

成骨不全症（osteogenesis imperfecta）是一种基因异常而影响结缔组织合成的疾病。其中大多数类型是编码Ⅰ型胶原的基因突变所致,其临床特征包括：骨骼脆性增加、骨质疏松、牙齿发育异常、蓝巩膜、关节松弛和脊柱侧弯。成骨不全症患儿因多次骨折、肢体畸形,严重干扰其负重行走功能,临床矫正畸形时面临骨质疏松、内固定容易松动;接骨板固定后因应力改变致接骨板两端易再骨折等问题。2005年8月至2007年12月,23例成骨不全症儿童（33处肢体）接受多段截骨矫形髓内固定治疗。股骨27处、胫腓骨6处。患儿手术时平均年龄8岁3个月（2岁1个月～15岁7个月）。23例患儿均周期性静脉给予帕米膦酸二钠治疗。随访全部23例病例,平均随访时间2年2个月（1年1个月～3年4个月）。全部患儿的父母对手术结果及畸形矫正满意,生活自理能力、活动范围较术前有明显改善。接受帕米膦酸二钠治疗患儿截骨处未表现延迟愈合。     

Recent progress in osteogenesis imperfecta

Osteogenesis imperfecta (OI), a rare clinical disease with abnormal type I collagen, is inherited or caused by mutation. A classification of OI into four types was proposed in 1979 and has been used up until four new types were added recently. A tough clinical challenge, OI causes abnormal blood coagulation and cardiovascular structure, airways obstruction, and delayed wound healing. The authors of the current article have reviewed recent progress in OI worldwide, including the mechanisms, classification, detection, clinical difficulties, and treatment.     

成骨不全的研究进展

成骨不全(OI)以骨骼脆性增加、反复骨折为主要临床表现的遗传性结缔组织疾病,亦可累及眼、耳、皮肤等,有常染色体显性遗传与常染色体隐性遗传两种遗传方式。目前根据临床表型、遗传方式和致病基因可分为15型,新发现的致病基因有待进一步明确分型。多数的OI患者是常染色体显性遗传,以Ⅰ型胶原蛋白结构基因COL1A1、COL1A2突变为主,非Ⅰ型胶原蛋白突变的常染色体隐性遗传的成骨不全患者数量少,但致病基因种类多,机制较为繁复,主要是前胶原蛋白的合成代谢异常所致。通过典型的临床特征及脆性骨折不难建立OI的诊断,为预防新生患儿,产前基因诊断极为重要。OI的治疗需多项学科的优化协同,畸形严重者可采取措施矫正畸形,改善负重力线,联合药物治疗可减轻疼痛、降低骨折风险。目前双膦酸盐在OI药物治疗中起主导地位,甲状旁腺素氨基端片段、抗硬化蛋白抗体等药物,有望增加骨密度、改善骨骼微结构且降低骨折风险,基因治疗、干细胞移植是新型治疗手段。本文综述成骨不全症的研究进展。     

Acetabular protrusion in osteogenesis imperfecta

The charts and radiographs of 79 patients with osteogenesis imperfecta (OI) actively followed at the authors' institution were reviewed to determine the incidence of acetabular protrusion (AP) in OI and to evaluate the clinical consequences of this pelvic deformity. All 79 patients had iliac crest bone biopsy and pelvic radiographs. They were subdivided into OI type 1, 3, and 4, according to the Sillence classification, and type 5, according to Glorieux. AP was measured on pelvic radiographs, using the center-edge angle of Wiberg and the acetabular ilioischial line. Twenty-six patients (33%) had radiologic evidence of AP, with the highest incidence in OI type 3 (69%) and OI type 5 (54%). Only 3 of these 24 patients (13%) had medical problems that could be related to AP: severe constipation and hip ankylosis. The authors conclude that in this series of 79 patients with OI, AP is not uncommon and in rare cases may lead to severe medical complications.     

The spine in osteogenesis imperfecta

The natural history and treatment of spinal deformity is presented in light of the radiographic severity of the disease. The radiographic findings are grouped according to the changes over time and are prognostically significant for ambulation, spinal deformity, and life span.