Objective: To assess the effect of spinal surgery and nocturnal ventilation on lung function and survival in patients with scoliosis secondary to Duchenne Muscular Dystrophy. Study design: Prospective, observational study by a single observer (Research Physiotherapist). Subjects: 80 patients with Duchenne Muscular Dystrophy were treated between 1986 and 2002. During this period 40 patients underwent a spinal fusion at a mean age of 14.05y (95 % CI 13.6 – 14.6). Nocturnal ventilation was commenced when symptoms and signs of respiratory failure were evident. The mean FVC at commencement of nocturnal ventilation was 0.41 litres. The patients were divided into 2 groups based on whether they received nocturnal ventilation. A total of twenty eight patients received nocturnal ventilation and 52 did not. The groups were further sub-divided based on whether they had spinal fusion. There were fourteen patients in each sub-group of the ventilated group and 26 patients in each sub-group of those that were not ventilated. Outcomes: Serial forced vital capacity (FVC) measurements and survival measured by Kaplan Meir survival analysis. Results: The mean vital capacity dropped from 1.41 l (95 % CI 1.21 – 1.61) to 1.13 (95 % CI 0.893 – 1.37), a year post-operatively. This was not associated with the development of respiratory compromise. The vital capacity improved gradually, reaching the pre-operative level before it declined again. The shortest survival was seen in patients who received neither surgery nor ventilation (median survival 19.7y). The patients who received surgery but no ventilatory support were not as good as the patients that were ventilated but did not have surgery (median survival 24.3y). The best results were seen in the patients who had both surgery and ventilation (median survival 26.4y). The worst prognosis is in patients with early onset symptomatic cardiomyopathy (6 patients, with a median survival of 16.3y). Conclusion: Nocturnal ventilation is the most important factor in the improvement in survival of patients with Duchennes muscular dystrophy. Spinal surgery is also beneficial and the best results are in those patients who have both

Prior to the introduction of steroid management in Duchenne Muscular Dystrophy (DMD), the prevalence of scoliosis approached 100%, concomitant with progressive decreases in pulmonary function. As such, early scoliosis correction (at 20-25°) was advocated, prior to substantial pulmonary function decline. With improved pulmonary function and delayed curve progression with steroid treatment, the role of early surgery has been questioned. The purpose of this study was to compare the post-operative outcomes of early versus late scoliosis correction in DMD. We hypothesize that performing later surgery with larger curves would not lead to worse post-operative complications. Retrospective cohort study. Patients with DMD who underwent posterior scoliosis correction, had pre-operative pulmonary function testing, and at least 1-year post-operative follow-up, were included; divided into 2 Groups by pre-operative curve angle – 1: ≤45°, 2: >45°. Primary outcome was post-operative complications by Clavien-Dindo (CD) grading. Secondary outcomes included: age at surgery, forced vital capacity (FVC), steroid utilization, fractional shortening (FS) by echocardiogram, surgery duration, blood transfusion requirements, ICU length of stay (LOS), days intubated post-operatively, hospital LOS, infection, curve correction. Two-tailed t-test and chi-square testing were used for analysis of patient factors and CD complication grade, respectively. 31 patients met the inclusion criteria, with a mean total follow-up of 8.3±3.2 years. Steroid treatment (prednisone, deflazacort) was utilized for 21 (67.7%) patients, for a mean duration of 8.2±4.0 years. Groups were comparable for steroid use, FVC, echo FS, and age at surgery (p>0.05). Primary curve angle was 31.7±10.4° and 58.3±11.1° for Groups 1 and 2, respectively (p 0.05). Surgery duration, ICU LOS, days intubated, hospital LOS, were also not different between Groups. For the entire cohort, however, the overall complication rate was higher for patients with steroid treatment [61.9% vs 10%, respectively (p=0.008)], the majority being CDII. Neither FVC nor echo FS were different between Groups at final follow-up (p=0.6; p=0.4, respectively). Post-operative complication rates were not different for early and late scoliosis correction in DMD. In general, however, patients undergoing steroid treatment were at higher risk of blood transfusion and deep infection. Delaying scoliosis correction in DMD while PF is favourable is reasonable, but patients with prior steroid treatment should be counseled regarding the higher risk of complications

This is a retrospective study describing four patients who developed symptomatic subluxation of the hip after stabilisation to the pelvis for myopathic scoliosis in Duchenne Muscular Dystrophy (DMD). Fusion to the pelvis is recommended for treatment of scoliosis in DMD. Non-spinal extra-pulmonary complications following this have not been described. 4 patients (average age: 14 years) out of a cohort of patients who have undergone spinal stabilisation for DMD between 1991 and 1998 developed symptomatic subluxation of the hip at an average of three months after fusion from the upper thoracic spine to the pelvis. All four had pain and three noticed clicking in the hip. X-rays revealed subluxation of the hip in all patients, and conservative treatment by adjustment of seating position in the wheelchair was successful in reducing the symptoms in all patients. Flexion-abduction contractures of the hip, which are a feature of DMD, are known to cause uncovering of the contralateral hip. We postulate that the spine compensates for this uncovering to a large degree, and that spinopelvic fusion for scoliosis in patients with pre-existent abduction contractures negates the capacity of the spine to provide compensation. This leads to uncovering of the hip with the lesser degree of contracture, and the resultant symptoms. We recommend screening for, and treatment of, flexion-abduction contractures of the hip in all patients undergoing spinal fusion for DMD, to avoid the possibility of development of symptomatic subluxation of the hip

Aprotinin has been shown to reduce blood loss in a number of surgical specialities. Patients with Duchenne Muscular Dystrophy (DMD) bleed more during surgical procedures than patients without this condition. The aim of this study was to evaluate the effect of aprotinin in reducing blood loss in scoliosis correction surgery in patients with DMD. A retrospective analysis of case notes was performed. Thirty two patients diagnosed with DMD who underwent surgical correction for scoliosis over the last 25 years were included. All patients underwent posterior spinal fusion and instrumentation, between the levels T3 and L3. All procedures were carried out by the same lead surgeon. Patient age, body weight, length of procedure, and estimated blood loss were recorded. Blood loss as a percentage of total circulating volume was calculated and compared between patients who had not received aprotinin (seven patients), and those who did (25 patients). Blood loss as a percentage of total circulating volume in the group of patients with aprotinin (range 37% – 107% mean 67%) was significantly lower (P< 0.05) than the group without aprotinin (range 67% – 157% mean 111%). There was found to be no statistically significant relationship between blood loss and length of procedure. There was no statistically significant difference in the duration of the procedure between the two groups of patients. Despite the small number of patients this study shows a beneficial effect for aprotinin in reducing blood loss during scoliosis correction surgery in patients with DMD

Background: There are conflicting reports regarding the effect of scoliosis surgery on respiratory function in Duchenne Muscular Dystrophy (DMD). 1. ,. 2. Galasko et al. 2. found that the Percentage Predicted Forced Vital Capacity (%PFVC), remained static for thirty six months following surgery, in patients with DMD that underwent spinal stabilisation for scoliosis. The aim of the current study was to support or refute the above finding in a large series of patients with DMD. Methods: A retrospective analysis of data on 55 consecutive patients with DMD that underwent single stage posterior surgical correction for scoliosis. We analysed the data of 55 boys with DMD who underwent scoliosis surgery between 1990 and 2002. Age at surgery, pre-operative Cobb angles, pre-operative %PFVC, and post-operative %PFVC at 6 months, 12-18 months and 2–3 years were collected. We documented the pre-operative Cobb angle ± SD to assess the difficulty level of our surgical cases. Percentage PFVC was used as our outcome measure to assess respiratory function. The mean pre-operative %PFVC was compared to the post –operative mean %PFVC at three different time intervals; at 6 months, 12 to 18 months and at 2 to 3 years. Results: The mean age was 14.6 years (range 11.2–18yrs). The mean pre-operative Cobb angle was 65.4 degrees ± 14.8. The mean %PFVC pre-operatively was 33.9 ± 10.4. The mean post-operative %PFVC’s were: 6 months (29.1 ± 10.4), 12 to 18 months (27.6 ± 12.1) and 2 to 3 years (25.4 ± 8.7). Therefore the mean % PFVC following surgery at 6 months, 12 to 18 months and 2 to 3 years decreased from the mean pre-operative % PFVC by 4.8%, 6.3% and 8.5% respectively. Conclusion: The natural history of patients with DMD is a gradual decline in respiratory function. In the current study the mean post –operative %PFVC was less than the mean pre-operative %PFVC at 6 months, 12 to 18 months and at 2 to 3 years post surgery. Our series would suggest that respiratory function declines post-operatively, even in the short term, in patients with DMD that undergo spinal stabilisation. The decline in respiratory function in our study was progressive over the 3 year follow up period

Boys affected by Duchenne Muscular Dystrophy (DMD) often develop significant scoliosis in the second decade of life and require scoliosis surgery. Our aim was to establish whether cardiac MRI (CMR) improves the preoperative risk assessment in DMD patients and evaluate the current risk of surgery. Case records were retrospectively reviewed for 62 consecutive DMD boys who underwent pre-surgical evaluation at a single tertiary neuromuscular centre between 2008–2013. 62 DMD patients aged 7–18 years underwent pre-operative assessment for a total of 70 procedures (45 spinal, 19 foot, 6 gastrostomy). Echocardiography data were available for 68 procedures. Echo revealed a median left ventricular (LV) shortening fraction (SF) of 29% (range: 7–44). 34% of boys (23/68) had abnormal SF <25%, 48% (31/65) showed dyskinesia and 22% (14/64) had LV dilatation. CMR was routinely performed on 35 patients. Of those who underwent CMR, median left ventricular ejection fraction (LVEF) was 52% (range: 27–67%), 71% of boys (25/35) had dyskinesia. Echocardiography shortening fraction (SF) correlated significantly with CMR LVEF (r. s. = 0.67; p<0.001). Increasing severity of dyskinesia on CMR correlated with reduced CMR LVEF (r. s. = −0.64; p<0.001) and reduced echo SF (r. s. = −0.47; p = 0.004). Although functional echocardiography and CMR data tended to correlate in 35 DMD boys who underwent both imaging modalities nine (26%) had discrepant results. Seven (20%) had evidence of dysfunction on CMR (LVEF < 55%) not detected on echocardiography (SF ≥ 27%); in two cases echocardiogram measured worse function than CMR. Based on multi-disciplinary risk assessment, surgery was considered too high risk in 23 out of 67 (34%) cases. In 21 cases (91%) this was due to underlying cardiomyopathy. The highest risk among older boys assessed for spinal surgery; 21 out of 43 (49%). Of 19 boys undergoing spinal surgery, six (32%) experienced complications: two wound infections; three patients required readmission to intensive care; one patient died in the post-operative period with acute heart failure

Objective: This study investigates whether fixation down to lumbar spine only can prevent pelvic tilt compared to pelvic fixation, in the surgical treatment of Duchenne Muscular Dystrophy (DMD). Design: Retrospective and prospective clinical outcome study, with long-term follow up. Materials and Methods: Nineteen cases of DMD with scoliosis had early stabilisation (mean age 11.5 years, range 9–16) with sublaminar wires and rods, and pedicle screws up to the lumbar spine. This cohort was followed up for a mean 4.2 years (3–10 years). 31 cases in another centre had late stabilisation (mean age 14.5 years, range 10–17), with Luque rod and sublaminar wire fixation, and pelvic fixation using L-rod (22 cases) configuration or Galveston technique (9 cases) and were followed up for 4.6 years (0.5–11.5 years). Post-op morbidity, Cobb angle correction and pelvic obliquity data were collected retrospectively and prospectively for comparison. Results: In the lumbar fixation group FVC was 58%, the mean Cobb angle and pelvic obliquity were 19.8° and 9° preoperative, 3.2° and 2.2° direct postoperative, and 5.2° and 2.9° at final follow up respectively. The mean estimated blood loss was 3.3 litres and average hospital stay 7.7 days. In the pelvic fixation group FVC was 44%, the mean Cobb angle and pelvic obliquity were 48° and 19.8° preoperative, 16.7° and 7.2° direct postoperative, and 22° and 11.6° at final follow up respectively. The mean blood loss (4.1 litres) and the average hospital stay (17 days) were significantly higher (p< 0.05) compared to the lumbar fixation group. The pelvic fixation group had higher complication rate at the lower end of fixation. No progression of the pelvic obliquity was noted in the lumbar fixation group during follow up. Conclusion: Lumbar fixation may be adequate for scoliosis in DMD, if the stabilisation is performed early, before the pelvis becomes tilted, and scoliosis becomes significant. The caudal pedicular fixation in the lumbar spine stops rotation of the spine around the rods, and prevent pelvic tilt to occur. Pelvic fixation may be necessary in presence of established pelvic obliquity and larger scoliosis, but is associated with higher morbidity and complications

Introduction: Historically segmental sublaminar wiring (SLW) fixation has been used for the correction of spinal deformity in neuromuscular scoliosis, however pedicle screw (PS) fixation is gaining popularity. We compared the results of both techniques in patients with Duchenne Muscular Dystrophy (DMD). Methods: Two groups of patients with DMD were matched according to the age at surgery, magnitude of deformity and vital capacity. Indications for surgery included loss of sitting balance, rapid decline of vital capacity and curve progression. In Group 1 (22 patients) SLW fixation was used from T2 to S1 with the Galveston technique. In Group 2 (18 patients) PS fixation was used from T2 to L5. Minimum follow-up was 2 years (range 2–13 years). Radiographs, SRS-22 and lung function tests were performed at standardised intervals. Results: Mean Cobb angle in Group 1 improved from 47° (range 26°–75°) to 23.5° (range10°–36°) and mean pelvic obliquity improved from 15° (range8°–25°) to 2.4° (range0°–8°). Mean Cobb angle in Group 2 improved from 46° (range28°–82°) to 8.5° (range 0°–18°) and mean pelvic obliquity improved from 15° (range7°–30°) to 1.1° (range 0°–6°) [p< 0.05]. Mean operating time and blood loss were less in Group 2 [p< 0.05]. In Group 1, the infection rate and instrumentation failure was higher, and SRS-22 outcomes showed no significant difference between the groups. Interestingly the mean Body Mass Index (BMI) in Group 2 was much higher than group 1. Conclusions: PS fixation resulted in superior correction and controlled pelvic obliquity to a large extent without the need for pelvic fixation. Lower rates of infection and failure of instrumentation were noted with PS fixation, despite high BMI of patients presumably due to steroid therapy. We recommend the use of PS instrumentation for the correction of spinal deformity in DMD

Aim:. Our aim was to report the rate and risk factors for post-operative complications in Duchenne Muscular Dystrophy (DMD) patients undergoing spinal arthrodesis for scoliosis, with a comparison to neuromuscular scoliosis of other aetiology. Methods:. From a prospective single surgeon spinal deformity database, we identified all patients with neuromuscular disorders who underwent surgical correction for progressive scoliosis. We recorded demographic and peri-operative data, including complications and subsequent procedures. The rate and risk factors for complications was determined, with a sub-analysis of the DMD group to determine any peri-operative factors predictive of overall complication rates. Results:. There were 98 patients, 59 (60%) were male with mean age at surgery 14 yrs (7–19 yrs). Forty-eight patients had cerebral palsy (n=48, 49%) and 26 DMD (27%). The overall complication rate was 18.4% (n=18), with deep wound infection (DWI; n=9, 9.2%) and acute liver injury (ALI; n=4, 4.0%) most frequent. The complication rate was significantly higher in DMD patients (35%) compared to other neuromuscular disorders (13%; p=0.013). All ALIs occurred in DMD patients (p=0.004), with an increased DWI rate (19% vs 6%; p=0.053). On subanalysis, no peri-operative factors correlated with overall complication rate or DWI rate. Increased intraoperative blood loss was the only factor associated with ALI (p=0.036). Discussion:. Scoliosis correction has an acceptable complication rate in patients with neuromuscular diagnoses. DMD patients have an increased complication rate when compared to other neuromuscular disorders. ALI in our series was unique to DMD patients and we would recommend peri-operative vigilance for hepatotoxicity in these patients. Conflict Of Interest Statement: No conflict of interest

Introduction: Duchenne’s Muscular Dystrophy (DMD) is a progresssive sex linked recessive disorder predominantly involving skeletal muscle. Scoliosis is almost universal in patients with DMD. Surgical stabilisation carries significant risks and complications with per-operative mortality of < 6%. Cardiopulmonary complications along with severe intraoperative blood loss requiring massive nlood transfusion are the major cause of morbidity. Aim: To evaluate the efficacy of single rod fusion technique in reducing the peroperative and post operative complications especially blood loss, duration of surgery and progression of curve. Materials and Methods: Retrospective review- 32 patients with scoliosis secondary to DMD with an average age of 14 years (range, 11–18) underwent either single rod fusion technique (19 patients) using Isola rod system or Hartshill rectangle/double rod fusion technique (13 patients). Blood loss was measured directly from the peroperative suction and postoperative drainage, indirectly by weighing swabs. Vapour free hypotensive anaesthesia was used in all cases. Progression of curve was followed up in the outpatients. Results: The mean operative time was 130 minutes (range, 80–180) for the single rod fusion technique in comparison to 250 minutes (range, 170–300) for the Hartshill/Double rod technique. The average blood loss for the single rod fusion technique was reduced, 2.2 L (range 0.4–4) versus 3.1L (0.8–4). The mean follow up was 35 months (range, 5–72). The inpatient stay was 12 days (range, 6–23). Seven patients developed complications: 3 ileus, 2 respiratory tract infections, one patient had loosening and migration of the rod, which required revision under LA, and one patient developed a superficial wound infection, which resolved with intravenous antibiotics. Conclusion: In our experience, single rod stabilisation is a safe and quick method of correcting the DMD scoliotic spine, with less blood loss and complications compared to traditional methods

Introduction: Duchenne’s Muscular Dystrophy (DMD) is a progressive sex linked recessive disease, predominantly involving skeletal muscle. Scoliosis is almost universal in patients with DMD. Surgical stabilization carries a significant risks and complications with peroperative mortality of < 6%. Cardiopulmonary complications along with severe intraoperative blood loss requiring massive blood transfusion are the major cause of morbidity. Aim: To evaluate the efficacy of single rod fusion technique in reducing the peroperative and post operative complications especially blood loss, duration of surgery and progression of curve. Material & Methods: Retrospective review – 14 patients with scoliosis secondary to DMD with an average age of 14.5 years (range, 11–17) underwent single rod fusion technique using Isola rod system and pelvic was not included in fixation. Blood loss was measured directly from the peroperative suction and post operative drainage, indirectly by weighing the swabs. Vapour free hypotensive anesthesia was used in all case. Progression of curve was monitored over a period of five years. Results: The mean operative time was 110 min (range, 80 – 180). The average blood loss was 1.6L (range, 0.7 – 5). The mean follow up was 32 months (range, 4 – 60). There was no progression noticed in the curve on follow up. Two patients develop complications, one had loosening & migration of the rod, required revision and superficial wound infection treated with intravenous antibiotics. Conclusion: In our experience, single rod stabilization is a safe and quick method of stabilizing the spine in DMD with less blood loss and complications compared to traditional methods

Aim: This study is to assess whether spinal fusion surgery can be performed safely in patients with Duchenne’s muscular dystrophy (DMD) and a low (less than 30%) predicted forced vital capacity (PFVC). Patients- Methods: Patients were identified with a diagnosis of scoliosis secondary to DMD who underwent spinal fusion procedures at the Royal National Orthopaedic Hospital, Stanmore between January 1990 and December 1999. Their notes and radiographs were reviewed and a standardised data collection form was completed. Results: Thirty patients with a mean age of 14 years 8 months at surgery underwent posterior spinal fusions. All were discharged from hospital alive and self-ventilating on average 22 days postoperatively (range 13–62 days). Thirteen patients had a PFVC less than 30%. The mean preoperative curve was 61 degrees (range 30 to 90) and the mean number of levels fused was 15 (i.e. T3 to sacrum). The mean correction was 36 degrees (range 16 to 61). Two patients required temporary tracheotomies, one with a PFVC of 34% and one with a PFVC of 20%. Both were removed successfully after 39 days and 27 days respectively. There was no association between PFVC and operative time, blood loss, length of time on ventilatory support, time intubated, incidence of complications or length of admission. Conslusion: Historically, only curves of greater than 20–350 have been considered suitable for surgery, as the progression of the curve is associated with a marked decline in respiratory function. Considering the currently used criteria for surgery, the group of 13 with low PFVCs normally would have been denied surgery. We conclude that spinal fusion surgery can be safely performed in DMD patients with a low PFVC

This study assessed whether spinal fusion surgery could be performed safely in patients with Duchenne’s muscular dystrophy (DMD) and a low (less than 30%) predicted forced vital capacity (PFVC). Patients were identified with a diagnosis of scoliosis secondary to DMD who underwent spinal fusion procedures at the Royal National Orthopaedic Hospital, Stanmore between January 1990 and December 1999. Their notes and radiographs were reviewed and a standardised data collection form was completed. Thirty patients with a mean age of 14 years 8 months at surgery underwent posterior spinal fusions. All were discharged from hospital alive and self-ventilating on average 22 days post-operatively (range 13–62 days). Thirteen patients had a PFVC less than 30%. The mean pre-operative curve was 61 degrees (range 30 to 90) and the mean number of levels fused was 15 (i.e. T3 to sacrum). The mean correction was 36 degrees (range 16 to 61). Two patients required temporary tracheotomies, one with a PFVC of 34% and one with a PFVC of 20%. Both were removed successfully after 39 days and 27 days respectively. There was no association between PFVC and operative time, blood loss, length of time on ventilatory support, time intubated, incidence of complications or length of admission. Historically, only curves of greater than 20–35 degrees have been considered suitable for surgery, as the progression of the curve is associated with a marked decline in respiratory function. Considering the currently used criteria for surgery, the group of 13 with low PFVCs normally would have been denied surgery. We conclude that spinal fusion surgery can be safely performed in DMD patients with a low PFVC

Introduction and Aims: This study is to assess whether spinal fusion surgery can be performed safely in patients with Duchenne’s muscular dystrophy (DMD) and a low (less than 30%) predicted forced vital capacity (PFVC). Method: Patients were identified with a diagnosis of scoliosis secondary to DMD who underwent spinal fusion procedures at the Royal National Orthopaedic Hospital, Stanmore between January 1990 and December 1999. Their notes and radiographs were reviewed and a standardised data collection form was completed. Results: Thirty patients with a mean age of 14 years 8 months at surgery underwent posterior spinal fusions. All were discharged from hospital alive and self-ventilating on average 22 days post-operatively (range 13–62 days). Thirteen patients had a PFVC less than 30%. The mean pre-operative curve was 61 degrees (range 30–90) and the mean number of levels fused was 15 (i.e. T3 to sacrum). The mean correction was 36 degrees (range 16–61). Two patients required temporary tracheotomies, one with a PFVC of 34% and one with a PFVC of 20%. Both were removed successfully after 39 days and 27 days respectively. There was no association between PFVC and operative time, blood loss, length of time on ventilatory support, time intubated, incidence of complications or length of admission. Conclusion: Historically, only curves of greater than 20–350 have been considered suitable for surgery, as the progression of the curve is associated with a marked decline in respiratory function. Considering the currently used criteria for surgery, the group of 13 with low PFVCs normally would have been denied surgery. We conclude that spinal fusion surgery can be safely performed in DMD patients with a low PFVC

Duchenne muscular dystrophy (DMD) is a prevalent childhood neuromuscular disease characterized by progressive skeletal and cardiac muscle degeneration due to dystrophin protein deficiency. Despite ongoing drug development efforts, no cure exists, with limited success in preclinical studies. To expedite DMD drug development, we introduce an innovative organ-on-a-chip (OOC) platform. This microfluidic device sustains up to six 3D patient-derived skeletal muscle tissues, enabling real-time evaluation of anti-DMD treatments. Our in vitro model recreates myotube integrity loss, a hallmark of DMD, by encapsulating myogenic precursors in a fibrin-composite matrix using a PDMS casting mold. Continuous contractile regimes mimic sarcolemmal instability, monitored through tissue contractibility and Creatine Kinase (CK) levels—an established marker of muscle damage. We further enhance our platform with a nanoplasmonic CK biosensor, enabling rapid, label-free, and real-time sarcolemmal damage assessment. Combining these elements, our work demonstrates the potential of OOCs in accelerating drug development for DMD and similar neuromuscular disorders

Aims: This study is dedicated to the diagnostics of the progressive muscular dystrophies, especially Duchenne muscular dystrophy. The aim of the study was determine the origin of the patology of dystrophin in two families with an occurrence of handicapped males and set the probability of carrier for women in risk. The other aim was to make an algorithm for investigation with the suspicion on the progressive muscular dystrophy. Methods: Material for analysis (DNA) was extracted from peripheral blood and from diagnostic muscular biopsy (dystrophin, mRNA) from the patients or the members of the families. When the deficit of the dystrophin from muscular biopsy by the imunohistochemical method was detected, the other molecular-biologic analyses were done. Multiplex PCR, mRNA analysis, RT-PCR and linkage analysis in families was used as so as the standard techniques of gel electrophoresis. Results& Conclusions: The clinical findings are very miscellaneous. With the suspicion on the progressive muscular dystrophy is needful the comprehensive view, because of the bad prognosis of the desease. For prediction of carrier status is sometimes necessary to examine several members of the family. This study should give the overview of the possible methods to identify the origin of the patology and determine the risk of carrier status for women

Introduction. The exact mechanisms leading to tendinopathies and tendon ruptures remain poorly understood while their occurrence is clearly associated with exercise. Overloading is thought to be a major factor contributing to the development of tendon pathologies. However, as animal studies have shown, heavy loading alone won't cause tendinopathies. It has been speculated, that malfunctioning adaptation or healing processes might be involved, triggering tendon tissue degeneration. By analysing the expression of the entirety of degrading enzymes (degradome) in pathological and non-pathological, strained and non-strained tendon tissue, the aim of this study was to identify common or opposite patterns in gene regulation. This approach may generate new targets for future studies. Materials and Methods. RNA was extracted from different tendon tissues: normal (n=7), tendinopathic (n=4) and ruptured (n=4) Achilles tendon; normal (n=4) and tendinopathic (n=4) posterior tibialis tendon; normal hamstrings tendon with or without subjection to static strain (n=4). The RNA was reverse transcribed, then pooled per group The expression of 538 protease genes was analysed using Taqman low-density array quantitative RT-PCR. To be considered relevant, changes had to be at least 4fold and measurable at a level below 36 Cts. Results. In general, there was little common regulation when exercised was compared with pathological tissue. The expression of PAMR1 and TNFαIP3 was upregulated with exercise (169-fold and 78-fold), Achilles tendinopathy (9724-fold and 7-fold) and Achilles tendon rupture (1809-fold and 10-fold), while DDI1, PSMB11 and PSH2 which were down-regulated with exercise were upregulated with Achilles pathology. Discussion. The newly found targets may deliver insights into the initiation and progression of tendon pathologies: PAMR1, a regeneration associated muscle protease which has been shown to be downregulated in Duchenne muscular dystrophy and upregulated in regenerating muscle fibers, might also be involved in tendon regeneration; TNFαIP3, which negatively regulates the NF-κB/pro-inflammatory pathway, could have anti-inflammatory function in tendon regeneration. PSMB11 and PSH2 are for the first time shown to be expressed in tendon and regulated in tendon pathology. Using this approach we were able to generate new targets and to add information on function, regulation and expression sites of recently identified proteins

Objective: To evaluate per-operative and postoperative complications following surgical correction of neuromuscular scoliosis and assess the amount of radiological correction of Cobb’s angle and pelvic obliquity angle. Design: Retrospective study of 25 consecutive patients with neuromuscular scoliosis (10 Duchenne Muscular Dystrophy, 8 Cerebral palsy, 2 Neurofibromatosis, and 1 each of Spinal Muscular Atrophy, Friedrich’s Ataxia, Spina Bifida, Rett’s Syndrome and incarcerated hemi-vertibrae) who had surgical correction for their spinal disorders between 1999 and 2002. Background: Aims of surgical correction in neuromuscular scoliosis include improving sitting ability, cardio-respiratory function and cosmesis. Patients studied underwent a combination of anterior release, posterior spinal fusion and pelvic fixation. Due to the length and complexity of procedures many of these patients need two stage surgical procedures on two separate occasions to achieve this goal. However our practice is performing these two stage procedures in one sitting with post operative ITU support. Results: Patients were aged between 4 and 16 years of age with mean preoperative Cobb angles of 75.9° and pelvic obliquity of 18°. A mean correction of 55.8° of Cobb angle and 12° of Pelvic obliquity were achieved. We had mean operating time of 413 minutes with a mean blood loss of 50.2 ml/ Kg body weight. All patients were admitted to ITU post operatively with a mean stay in ITU of 5.8 days. All patients achieved clinical and radiological spinal fusion. Instrumentation had to be removed from one patient after fusion because of persistent infection. Conclusion: Surgery for Neuromuscular Scoliosis is time consuming and complicated. With anticipation of blood loss, complications and ITU support, we can successfully perform the two-stage procedure in one sitting

Background: The long term survival of patients with type II and III spinal muscular atrophy differs considerably from patients with Duchenne muscular dystrophy. Despite this, treatment of scoliosis in both groups is often reported together. 1. There are only sporadic reports, all with small numbers, of combined anterior and posterior (two stage) scoliosis surgery in patients with spinal muscular atrophy (SMA). 1. The aim of the current study was to document the peri-operative morbidity, length of stay and correction of deformity in patients with SMA that had two stage surgery and compare them with the patients that had single stage surgery. Methods: A retrospective analysis of data on our consecutive series of patients with SMA. We analysed the data of 31 patients with SMA (16M:15F) who underwent scoliosis surgery between 1996 and 2004. The data collected included SMA type, age at surgery, percentage predicted forced vital capacity(%PFVC), blood loss, duration of surgery, complications, type of surgery undertaken, pre-operative mean Cobb angle ± SD(including bending film Cobb angle ± SD), post-operative Cobb angle ± SD and length of hospital stay. The decision to do single or two stage surgery was based on the history of recurrent chest infection, %PFVC and the stiffness of the curve. Percentage correction of Cobb angle in patients that had two stage surgery compared with those that had single stage posterior surgery. Comparison of post-operative respiratory complications, estimated blood loss, total hours in theatre and mean length of stay between the two groups. Results: There were 27 SMA type II and 4 SMA type III’s with a mean age at surgery of12.5 years (range 7.8 – 17.4). The mean pre-operative Cobb angle of all 31 patients was 89.7° ± 19.7°, the mean bending preoperative Cobb angle was 54° ± 13.3° and the mean post-operative Cobb angle was 33.7° ± 17.3°. Eighteen patients had single stage surgery and 13 had two stage surgery. Twelve out of the thirteen two stage operations had either a thoracotomy or a thoracoabdominal approach. In the patients that had single stage posterior surgery, the mean bending preoperative Cobb angle was 54° ± 13.3° and the mean post-operative Cobb angle was 38.7° ± 19.2°. In the patients that had two stage surgery the mean pre-operative bending Cobb angle was 53.6° ± 11.6° and the post-operative Cobb angle was 25.5° ± 10.8°. The %PFVC in the patients that had single stage and two stage surgery was 39.2 ± 12.8 and 69.2 ± 12.2 respectively. There were 3 respiratory complications in the single stage group and 4 in the two stage group. The average total estimated blood loss (EBL) in the single stage and two stage groups (first and second stage EBL’s combined) were 2433ml and 1902ml respectively. The length of stay for the patients with single stage surgery and two stage surgery was 14.1 ± 4.1 and 18.5 ± 7.4 days respectively. The total surgical hours for the patients with single and two stage surgery were 2.9 ± .6 hrs and 4.8 ± 1.2 hrs respectively. Conclusion: The results of our series would suggest that in a selected group of SMA patients (no history of recurrent chest infection and an acceptable %PFVC) a better immediate deformity correction can be attained with two stage surgery. This has to be weighed up with a greater total EBL and mean length of stay for the patients that had two stage surgery

The development of spinal deformity in children with underlying neurodisability can affect their ability to function and impact on their quality of life, as well as compromise provision of nursing care. Patients with neuromuscular spinal deformity are among the most challenging due to the number and complexity of medical comorbidities that increase the risk for severe intraoperative or postoperative complications. A multidisciplinary approach is mandatory at every stage to ensure that all nonoperative measures have been applied, and that the treatment goals have been clearly defined and agreed with the family. This will involve input from multiple specialities, including allied healthcare professionals, such as physiotherapists and wheelchair services. Surgery should be considered when there is significant impact on the patients’ quality of life, which is usually due to poor sitting balance, back or costo-pelvic pain, respiratory complications, or problems with self-care and feeding. Meticulous preoperative assessment is required, along with careful consideration of the nature of the deformity and the problems that it is causing. Surgery can achieve good curve correction and results in high levels of satisfaction from the patients and their caregivers. Modern modular posterior instrumentation systems allow an effective deformity correction. However, the risks of surgery remain high, and involvement of the family at all stages of decision-making is required in order to balance the risks and anticipated gains of the procedure, and to select those patients who can mostly benefit from spinal correction.