A hypomorphic vasopressin allele prevents anxiety-related behavior

In this study, microarray analysis, in situ hybridization, quantitative real-time PCR and immunohistochemistry revealed decreased expression of the vasopressin gene (Avp) in the hypothalamic paraventricular (PVN) and supraoptic (SON) nuclei of adult LAB mice compared to HAB, NAB (normal anxiety-related behavior) and HABxLAB F1 intercross controls, without detecting differences in receptor expression or density. By sequencing the regions 2.5 kbp up- and downstream of the Avp gene locus, we could identify several polymorphic loci, differing between the HAB and LAB lines. In the gene promoter, a deletion of twelve bp Δ(−2180–2191) is particularly likely to contribute to the reduced Avp expression detected in LAB animals under basal conditions. Indeed, allele-specific transcription analysis of F1 animals revealed a hypomorphic LAB-specific Avp allele with a reduced transcription rate by 75% compared to the HAB-specific allele, thus explaining line-specific Avp expression profiles and phenotypic features. Accordingly, intra-PVN Avp mRNA levels were found to correlate with anxiety-related and depression-like behaviors. In addition to this correlative evidence, a significant, though moderate, genotype/phenotype association was demonstrated in 258 male mice of a freely-segregating F2 panel, suggesting a causal contribution of the Avp promoter deletion to anxiety-related behavior

Femoral derotation osteotomy-Does intraoperative electromagnetic tracking reflect the dynamic outcome?

Femoral derotation osteotomy (FDO) is a well-established procedure for the correction of internal rotation gait in children with cerebral palsy. Various studies have demonstrated good results for FDO both in short-term and long-term evaluation with some describing recurrence and over- or under-corrections. The present study evaluates the use of an objective intraoperative derotation measurement through electromagnetic tracking. We report the static and dynamic results of 11 cases with internal rotation gait (8 male, 3 female, mean age 22.2 years), that underwent FDO with intraoperative electromagnetic tracking and conventional goniometric measurement of the correction. The dynamic and static changes were assessed through three-dimensional gait analysis after a mean of 12 months after surgery and rotational imaging preoperative and after a mean of eleven days postoperatively. Mean hip rotation in stance significantly decreased from 20.9° (SD 5.9) to 5.8° (SD 4.7°) after FDO. The mean amount of derotation quantified by electromagnetic tracking was 23.2° (16.5°-28.8°) and 25.1° (20.0°-33.0°) for goniometric measurement. Both measurement modalities showed small differences to rotational imaging (electromagnetic bone tracking [EMT]: 0.72°; goniometer: 1.19°) but a large deviation when compared to three-dimensional gait analysis (EMT: 8.5°, goniometer: 9.1°). In comparison to the static changes and EMT measurement, the dynamic changes measured during 3-D-gait analysis reflected only 66% of the actual derotation performed during surgery. Although electromagnetic tracking allows a precise intraoperative assessment of the derotation during FDO, the amount of intraoperative correction is not reflected in the improvements in three-dimensional gait analysis

Defining Equinus Foot in Cerebral Palsy

Background: Equinus foot is the deformity most frequently observed in patients with cerebral palsy (CP). While there is widespread agreement on the treatment of equinus foot, a clear clinical definition has been lacking. Therefore, we conducted this study to evaluate functional changes in gait analysis in relation to maximum possible dorsiflexion (0°, 5°, 10° and 15°) and in two subgroups of CP patients (unilateral and bilateral). Methods: In this retrospective study, CP patients with different degrees of clinically measured maximum dorsiflexion were included. We further subdivided patients into unilaterally and bilaterally affected individuals and also included a healthy control group. All participants underwent a 3D gait analysis. Our goal was to determine the degree of maximum clinical dorsiflexion where the functional changes in range of motion (ROM) and ankle moment and power during gait were most evident. Then, a subgroup analysis was performed according to the affected side. Results: In all, 71 and 84 limbs were analyzed in unilaterally and bilaterally affected subgroups. The clinically 0° dorsiflexion group barely reached a plantigrade position in the 3D gait analysis. Differences in ROM were observed between subgroups. Ankle moment was quite similar between different subgroups but to a lower extent in the unilateral group. All CP patients had reduced ankle power compared to controls. Conclusions: A cutoff value of clinical ≤ 5° dorsiflexion is the recommended value for defining a functionally relevant equinus foot in CP patients

Mid-Term Results of Distal Femoral Extension and Shortening Osteotomy in Treating Flexed Knee Gait in Children with Cerebral Palsy

Background: Distal femoral extension and shortening osteotomy (DFESO) seems to be an effective method for the treatment of flexed knee gait in children with cerebral palsy. Nevertheless, studies investigating the mid- and long-term outcomes after such procedures are lacking in the literature. Therefore, the purpose of this study was to assess the mid-term outcomes regarding sagittal plane kinematics of the knee after DFESO with or without concomitant patella advancement. Furthermore, an evaluation of the postoperative course and possible recurrence of flexed knee gait was planned. Methods: In a prospective observational study, 19 patients (28 limbs; mean age 11.8 years (6.7–16.0 years)) were examined using 3-D gait analysis and clinical exam before (E0) and at a mean of 38 months (E2: 24–55 months) after surgery. Fifteen patients (22 limbs) had an additional first postoperative gait analysis (E1) after a mean of 14 (10–20) months after surgery. In these patients, the postoperative changes between the short-term and mid-term gait analyses were evaluated. Results: DFESO led to a significant decrease in flexed knee gait with an improvement in sagittal plane kinematics during the stance phase. In addition, a slightly increased anterior pelvic tilt was observed at E1, and we found a tendency towards stiff knee gait with a decrease in mean knee flexion in swing at E2. Conclusions: DFESO led to a significant improvement in flexed knee gait in children with cerebral palsy. The therapeutic effect seems to be lasting on mid-term follow-up with a slight overall tendency to recurrence

K-Wire Osteosynthesis for Arthrodesis of the Paediatric Foot Is a Good and Valid Procedure

Background: Foot deformities in children are common, and the majority can be treated conservatively. Nevertheless, there are deformities that require surgical treatment. These include rigid clubfeet, severe forms of pes planovalgus, pes cavus and several more. We retrospectively analysed the pseudarthrosis rate of surgical treatment of foot deformities with transcutaneous K-wire osteosynthesis in neurologically healthy children and adolescents. The aim of the study was to show that the results with K-wires are comparable to those with other osteosynthesis methods in the literature. Methods: A total of 46 paediatric patients aged 6 to 17 years treated between January 2010 and December 2015 met the inclusion criteria. Depending on the diagnosis, different surgical interventions were necessary. In clubfoot and pes planovalgus, representing n = 81, 70% of the whole collective triple arthrodesis with fusion of the talonavicular, calcaneocuboid and subtalar joints or Evans osteotomy was usually performed. Radiographs were taken at least 6 months post-surgery, and bony consolidation of the subtalar, talonavicular (TN), and calcaneocuboidal (CC) joints and the metatarsal I (MT I) osteotomy were assessed. If there was no evidence of fusion at this time, it was considered non-union. Results: In total, 117 arthrodesis procedures with K-wires were performed. Overall, 110 of the arthrodesis (94%) healed, and only 7 joints (6%) showed non-union (subtalar 0%, TN 7.7%, CC 6.5% and MT I 6.7%). All non-unions occurred in subjects with clubfoot deformities. No significant risk factors were observed. Conclusion: This study replicated the good consolidation rates reported in the literature with screws, plates, intramedullary nails or staples in arthrodesis of the adolescent foot in neurologically healthy subjects and confirmed the efficacy of K-wires. The main advantages of transcutaneous K-wire treatment are easy metal removal, lower osteosynthesis material costs and less concomitant damage. Further studies, especially randomised controlled trials, are needed to further investigate this topic

Radiological Outcomes of Femoral Head Resection in Patients with Cerebral Palsy: A Retrospective Comparative Study of Two Surgical Procedures

Background: We conducted this study to compare postoperative radiological outcomes of two surgical procedures (femoral head resection (FHR) and femoral head cap plastic surgery (FCP)) in patients with CP and hip dislocation. Methods: CP patients with Gross Motor Function Classification Score (GMFCS) IV or V, who underwent either FHR or FCP between 2007 and 2018 at Heidelberg University Hospital in Germany, were included. Most participants underwent postoperative traction in an attempt to prevent telescoping. Besides the above-mentioned objectives, we examined the association between telescoping and spasmolytic use, traction weight, and traction duration. Results: Thirty-eight CP patients were included, of whom 15 (25 hips) underwent FHR and 23 (30 hips) underwent FCP. Heterotopic ossification (grades I, II, and III) occurred in 80% and 83.3% of patients in the FHR and FCP groups, respectively. Telescoping occurred in 18.68 and 31.99% of patients in the FHR and FCP groups, respectively (p = 0.999). Other complications were similar between both groups. Conclusions: The postoperative outcomes of FHR and FCP are similar in terms of telescoping, heterotopic ossification, and complications. Although telescoping was encountered more in the FCP group, no significant difference from the FHR group was found. We noted that the weight of traction could reduce the development of telescoping

Pain in adults with cerebral palsy after single-event multilevel surgery

OBJECTIVE The aim of the investigation was to assess the contribution of pain to functional, social, and health-related quality-of-life outcomes in adults with cerebral palsy. DESIGN This monocentric, prospective study included long-term data for ambulant adults with cerebral palsy and at levels I-III in the Gross Motor Function Classification System who had received orthopedic multilevel surgery in adulthood and in whom preoperative and postoperative three-dimensional gait analysis was conducted, including the Gait Profile Score. A questionnaire including the Visual Analog Scale, Oswestry Disability Index, and European Quality of Life 5 Dimensions 3 Level was analyzed. RESULTS Twenty-four adults at a mean age of 38.0 yrs were included. Sixteen patients (66.7%) indicated that they experienced pain and 10 patients (41.7%) had pain for more than 6 mos. Overall, 13 patients (54%) experienced both pain and anxiety. There was no correlation of the Gait Profile Score with pain, Gross Motor Function Classification System, and Oswestry Disability Index. The Oswestry Disability Index showed a positive correlation with the Gross Motor Function Classification System (r = 0.39, P = 0.05) and pain (r = 0.57, P = 0.004). CONCLUSIONS Pain and anxiety represent relevant comorbidities in adults with cerebral palsy. The occurrence of pain correlates with the Oswestry Disability Index and is higher than in children with cerebral palsy

Pain in Adults With Cerebral Palsy After Single-Event Multilevel Surgery

OBJECTIVE The aim of the investigation was to assess the contribution of pain to functional, social, and health-related quality-of-life outcomes in adults with cerebral palsy. DESIGN This monocentric, prospective study included long-term data for ambulant adults with cerebral palsy and at levels I-III in the Gross Motor Function Classification System who had received orthopedic multilevel surgery in adulthood and in whom preoperative and postoperative three-dimensional gait analysis was conducted, including the Gait Profile Score. A questionnaire including the Visual Analog Scale, Oswestry Disability Index, and European Quality of Life 5 Dimensions 3 Level was analyzed. RESULTS Twenty-four adults at a mean age of 38.0 yrs were included. Sixteen patients (66.7%) indicated that they experienced pain and 10 patients (41.7%) had pain for more than 6 mos. Overall, 13 patients (54%) experienced both pain and anxiety. There was no correlation of the Gait Profile Score with pain, Gross Motor Function Classification System, and Oswestry Disability Index. The Oswestry Disability Index showed a positive correlation with the Gross Motor Function Classification System (r = 0.39, P = 0.05) and pain (r = 0.57, P = 0.004). CONCLUSIONS Pain and anxiety represent relevant comorbidities in adults with cerebral palsy. The occurrence of pain correlates with the Oswestry Disability Index and is higher than in children with cerebral palsy

Lower-Limb Amputation in Children and Adolescents—A Rare Encounter with Unique and Special Challenges

Background/Aim: The pattern of lower-limb amputation, indications, complications, and revision in pediatric cases differs globally. Therefore, we conducted this study to describe the patterns of lower-limb amputation at our institution. Methods: During a set period between 2010 and 2020, adolescent patients undergoing lower-limb amputation within the orthopedic department of Heidelberg University Hospital were retrospectively collected and analyzed. The retrieved dataset included two parts: data on lower-limb amputations and data on subsequent complications and revision surgeries at the same time. Besides patients’ general information (age, gender), the dataset included data regarding amputation patterns (number, indications, and level of amputation, complications, and revision surgeries and their indications). Results: Twenty-two patients undergoing lower-limb amputation were examined, of which the majority were males (63.6%) with a mean age of 12 (5.1) years. Tumor was the most common indication for amputation (72.7%), and transfemoral amputation was the most frequent level (68.2%). Complications occurred in 10 patients, mostly due to stump impalement or bony overgrowth. Of all recorded patients requiring revision, nine were regarding bone and one case regarding soft tissue. Conclusions: Lower-limb amputation in adolescents is a rare encounter and it is commonly indicated due to bone tumors. The thigh is the most common level of amputation. Postoperative complications are frequent, mainly secondary to bony overgrowth, and often require revision surgery