The evolution of the nosology of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular investigations into the etiology of OI and these advances have direct relevance to the medical management of the disorder, and the purpose of this review is to document the history and evolution of the nosology of OI. The current nosology, based on molecular concepts, which are crucial in the identification of genotype‐phenotype correlations in persons with OI, is also outlined. The successive revisions of the nosology and classification of OI have highlighted the importance of the nomenclature of the condition in order for it to be recognized by clinicians, scientists and patient advocacy groups. In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of the individual's type of OI have been facilitated.     

Multidimensional ultrasound imaging of the wrist: Changes of shape and displacement of the median nerve and tendons in carpal tunnel syndrome

Dynamics of structures within the carpal tunnel may alter in carpal tunnel syndrome (CTS) due to fibrotic changes and increased carpal tunnel pressure. Ultrasound can visualize these potential changes, making ultrasound potentially an accurate diagnostic tool. To study this, we imaged the carpal tunnel of 113 patients and 42 controls. CTS severity was classified according to validated clinical and nerve conduction study (NCS) classifications. Transversal and longitudinal displacement and shape (changes) were calculated for the median nerve, tendons and surrounding tissue. To predict diagnostic value binary logistic regression modeling was applied. Reduced longitudinal nerve displacement (p≤ 0.019), increased nerve cross‐sectional area (p≤ 0.006) and perimeter (p≤ 0.007), and a trend of relatively changed tendon displacements were seen in patients. Changes were more convincing when CTS was classified as more severe. Binary logistic modeling to diagnose CTS using ultrasound showed a sensitivity of 70–71% and specificity of 80–84%. In conclusion, CTS patients have altered dynamics of structures within the carpal tunnel. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 33:1332–1340, 2015.     

Immediate and durable clinical improvement in the non-operated hand after contralateral surgery for patients with bilateral Carpal Tunnel Syndrome

Background

Little is known about clinical improvement in the non-operated hand after unilateral surgery for patients who present with bilateral carpal tunnel syndrome (CTS). In this prospective study of patients with bilateral CTS, we evaluated the clinical effects on the non-operated hand following unilateral contralateral carpal tunnel surgical release.

Material and Methods

During a consecutive period of 22 months, 69 patients with bilateral CTS underwent unilateral open carpal tunnel release. Bilateral subjective and objective evaluations were performed pre-operatively, at days 2, 15 and 180 after surgery. Subjective evaluations, analysed with Student t test, included the Boston-Levine symptom severity score and a visual analogue scale including pain, nocturnal symptoms and numbness. A telephone survey was conducted 12 months after surgery.

Results

The Boston-Levine severity score of the contralateral non-operated hand decreased from 2.70 pre-operatively to 1.70 at 2 days (p < 0.001). The visual analogue pain score decreased at 2 days for 61 patients (88 %), whereas the nocturnal symptoms decreased or disappeared in 63 cases (91 %) and the paresthesia in 52 cases (75 %) (ps < 0.001). These beneficial effects were stable in time with no statistically significant change at 180 days. Overall, 58 patients (84 %) observed a total resolution or a significant improvement in their symptoms at 6 months. At 12 months, 100 % of patients responded to a telephone survey. Fifty one of them (74 %) reported minimal or no symptoms on the non-operated hand. Linear regression (analysis of variance [ANOVA]) showed that gender, age, professional status, duration of pre-operative symptoms and severity of electrophysiological disturbances were not predictive of post-operative evolution in the non-operated hand after unilateral surgery for CTS.     

蜡泪样骨病1例并文献复习

蜡泪样骨病(Melorheostosis)是一种罕见起病原因不明的骨质硬化性疾病。发病率约为1/100万左右,早期无明显的临床特征,随着病情进展主要表现为受累肢体的慢性疼痛,活动时加重,且年龄越大疼痛越明显,严重者可出现受累肢体的感觉异常、关节挛缩、僵硬、畸形等。该疾病主要有保守治疗和手术治疗两种方式,一般愈后较好。此病发病较低,临床对此病认识不足,漏诊及误诊率较高。本文通过对我科收治的1例患者进行分析并复习相关文献,进一步熟悉蜡泪样骨病的的诊断和治疗方案,以提高对此病的认识。     

磨削法在防止颌骨病变术后复发中的应用

目的:为提高颌骨手术的成功率,减少术后复发,采用磨削法处理颌骨病变手术创面,进行术后观察及疗效评估。方法:对142例颌骨各种病变进行手术,手术后骨创面采用磨削法进行处理。结果:颌骨囊肿和良、恶性肿瘤无复发;颌骨骨髓炎术后有2例复发,复发率为14.29%。结论:磨削法处理颌骨病变手术创面,可以提高治疗效果。     

Histomorphometric analysis of the temporal bone after change of direction of force vector of mandible: an experimental study in rabbits

Objectives

The present study aimed at performing a histological evaluation of the response of temporal bone tissue to a change of direction of the force vector of the mandible in relation to the base of the skull.

Material and methods

Adult rabbits were assigned into four groups with two control and four experimental animals in each group. Experimental animals underwent surgery, which resulted in a change of direction of the force vector on the right temporomandibular joint. Samples were collected after 15, 30, 60 and 90 days for histological analysis.

Results

In the two-way analysis of variance, the effect of group and time was statistically significant (p<0.001). Additionally, a statistically significant interaction between group and time was observed (p<0.001). Control animals showed normal growth and development of the temporal region. In the experimental group, the change in direction of the force vector of the mandible induced significant changes in the temporal bone, with a bone modeling process, which suggests growth of this cranial structure.

Conclusions

The methodology used in this experiment allows us to conclude that the change in direction of the force vector of the mandible in relation to the skull base induces remodeling and modeling processes in the temporal bone. The resumption of normal oral functions after bone healing of the mandibular fracture appears to increase cell activation in the remodeling and modeling of the temporal bone structure. The observation of areas of temporal bone modeling shows the relevance of further investigation on the correlation between the joint structures and craniofacial growth and development.     

Guided Bone Regeneration Using Injectable Vascular Endothelial Growth Factor Delivery Gel

Background: Vascularization underlies the success of guided bone regeneration (GBR) procedures. This study evaluates the regenerative potential of GBR in combination with vascular endothelial growth factor (VEGF) delivery via an injectable hydrogel system. Methods: Critical‐sized defects were created in rat calvariae, and GBR procedures were performed with a collagen membrane alone (control), or plus bolus delivery of VEGF, or plus application of VEGF‐releasing hydrogels (VEGF–Alg). Four and 8 weeks after treatment, defect sites were evaluated with microcomputed tomographic and histomorphometric analyses for blood vessel and bone formation. Results: At 4 weeks, relative to the control condition, the bolus addition of VEGF did not affect blood vessel density within the defect site, yet the application of VEGF–Alg significantly (P <0.05) increased blood vessel density. Although there was no difference in bone regeneration at 4 weeks, at 8 weeks there was a significant (P <0.05) increase in bone regeneration in the VEGF–Alg‐treated defects. Conclusions: These data demonstrate that the application of VEGF–Alg enhanced early angiogenesis, whereas at a later time point, it enhanced bone regeneration. Controlled delivery approaches of angiogenic growth factors used adjunctively with GBR may be a promising strategy for enhancing outcomes of GBR.     

Peripheral nerve entrapment syndromes of the upper limb

Peripheral nerve entrapment syndrome is a condition caused by the persistent application of pressure to a nerve. Symptoms include pain, numbness and tingling, and muscle weakness. The distribution of symptoms depends upon the nerve affected. This article discusses the aetiology, epidemiology and pathogenesis of peripheral nerve entrapment in the upper limb, and the principles of diagnosis and management. Common examples of nerve entrapment are described in greater depth.