Knee Contracture Research Articles

Screw Anterior Distal Femoral Hemiepiphysiodesis in Children With Cerebral Palsy and Knee Flexion Contractures: A Retrospective Case-control Study.

In children with cerebral palsy who demonstrate hamstring tightness, increasing attention is being paid to less invasive methods of correcting knee flexion contractures. Guided growth principles represent one such approach, and in tandem with a serial extension casting protocol, may provide a less invasive method of addressing these contractures. To date, no evidence is available on this combination of procedures. The purpose of this study was to investigate the effectiveness of a combined lengthening/guided growth procedure (hamstring lengthening, percutaneous anterior screw hemiepiphysiodesis, and serial extension casting) in addressing knee flexion contracture, and to compare this approach to hamstring lengthening and serial extension casting alone. Measures from preoperative and postoperative gait analyses were reviewed retrospectively for 10 patients with cerebral palsy who underwent anterior screw hemiepiphysiodesis and hamstring lengthening followed by serial extension casting [anterior epiphysiodesis (AE) group]. These findings were compared with measures from 19 patients with cerebral palsy who underwent hamstring lengthening followed by serial extension casting [no anterior epiphysiodesis (NAE) group]. Postoperative changes in clinical, functional, and kinematic parameters were assessed. Radiographic parameters were also assessed for the AE group. In the AE group, improvements were measured in knee contracture, popliteal angle, peak stance phase knee extension, knee range of motion, and Gait Deviation Index. Similar results were observed in the NAE group. In the AE group, the lateral distal femoral angle increased into extension by 20.9 degrees at an average of 26-month follow-up. Both groups showed an increase in pelvic tilt postoperatively. There were no surgical complications associated with the screw anterior hemiepiphysiodesis. Four patients did have complaints of knee pain, but the pain was attributable to the implants in only one patient. The AE group demonstrated statistically greater postoperative improvement in popliteal angle, knee flexion contracture, and peak knee extension during stance than the NAE group. Both procedures led to improvements in clinical and functional measures, indicating the validity of this approach as a means of correcting flexion contracture that is less invasive and allows immediate weight bearing. Level III-therapeutic study.

Low Load Prolonged Stretch vs. High Load Brief Stretch in Treatment of Knee Contracture after Burn

Abstract Background: Burn is defined as a traumatic injury to the skin or other organic tissue primarily caused by thermal or other acute exposures. Burns occur when some or all of the cells in the skin or other tissues are destroyed by heat, cold, electricity, radiation, or caustic chemicals. Burns are acute wounds caused by an isolated, non-recurring insult and progress rapidly through an orderly series of healing steps. Aim of Study: This study was conducted to investigate effect of low load prolonged stretchvs. High load brief stretch post burn knee contracture. Subjects and Methods: Thirty patients with knee contrac-ture following burn were conducted in the present study. All patients with age ranged from 25 to 45 years. They were selected from Om Al-Masreen Hospital, and Kasr El-Ainy Hospital. Patients assigned randomly into two groups (A and B) equal in number: Group (A) fifteen patients received low load prolonged stretch using weights (sand bags) 3 times/ week for 4 successful weeks. Group (B) fifteen patients received manual stretch 3 times/week for 4 successful weeks. Evaluation: Evaluations of both groups (A and B) were done before starting the treatment and at the end of study by Goniometer and Foot print to measure range of motion and cadence pre and post-treatment. Results: This study showed a statistically significant increase of knee joint ROM with percentage of improvement (14.4±4.89) in group (A), compared with group (B) with percentage of improvement (19.4±5.15). Conclusion: The present study concluded that low load prolonged stretch is more effective than high load brief stretch in treatment of knee contracture after burn.

The Therapeutic Effect and Mechanism of Static Progressive Stretching in Different Durations on Traumatic Knee Contracture in Rats

To investigate the effect and mechanism of static progressive stretching (SPS) in different durations on traumatic knee contracture in rats. Seventy male Wistar rats were randomly divided into three groups, including surgical modeling group ( n=50), control group (CON, no surgery, no treatment, n=10) and trauma without immobilization group (TRA, no treatment, n=10). The knee contracture model was established, and 50 surgical modeling rats were randomly divided into five groups including static progressive stretching treatment for 20 minutes group (S20 min, n=10), treatment for 30 minutes group (S30 min, n=10), treatment for 40 minutes group (S40 min, n=10), untreatment group (UNT, no SPS, n=10) and modeling group (MOD, n=10, euthanized after immobilization for histological staining and Western blot). Individuals in the S20 min, S30 min, and S40 min groups were anesthetized and submitted to SPS. One treatment session took place every other day. A total of 8 sessions were given till the final treatment session on the day 16. On the day 0, 8, and 16 of intervention, the range of joint motion (ROM) and gait analysis were measured and compared. After the ROM measurements and gait analysis, the rats were euthanized on the day 16 and the samples were stained with HE and Masson methods. The changes of pathological organization were observed. Western blot was used to detect the expressions of transforming growth factor-β1 (TGF-β1) and interleukin-6 (IL-6). ① ROM：the ROM of S30 min group recovered similar to that of the S20 min and S40 min groups after 8 days of treatment ( P>0.05), and was the best among all the surgical modeling groups after 16 d of treatment ( P<0.05). The ROM of S20 min, S30 min and S40 min groups significantly improved on the day 8 and day 16 comparing with that on day 0 ( P<0.01). ② Gait analysis: the stands in the S30min group improved best on the day 8 and day 16 ( P<0.05) , and better than that on day 0 ( P<0.05). The stride length of the S30 min group progressed similar to that of the S40 min group on the day 8 ( P>0.05), and there was no difference among three groups on the day 16 ( P>0.05). The stride length of the S30 min group appeared to recover more quickly on the day 8 ( P<0.05), and those of S20 min and UNT groups recovered significantly on the day 16 ( P<0.05). In addition, the swings in the S30 min group improved best ( P<0.05), and it appeared to recover better on the day 16 ( P<0.05). There was no statistical difference in terms of the swing speed among the four surgical modeling groups on the day 8 ( P>0.05). The swing speed of the S30min group increased most than those of the other three groups ( P<0.05), and it was much better on the day 8 and day 16 comparing with that on the day 0 ( P<0.05 ). ③ HE and Masson staining: the fibrosis and inflammation of the S30min group were significantly suppressed comparing to the other groups on the day 16. ④ Western blot: The protein expression levels of TGF-β1 and IL-6 were significantly lower than those in the other intervention groups including the S20 min, S40 min and UNT groups on the day 16 ( P<0.05). Static progressive stretching treatment for 30 min could significantly improve the traumatic knee contracture in rats. The mechanism may be that the SPS decreased the expressions of TGF-β1 and IL-6, reduced the adhesion and inflammation of joint capsule. Therefore it relieved the pain and increased the joint mobility by reconstructing the structure of the capsule and suppressing the fibrotic changes.

Orthopaedic care of the child with arthrogryposis: a 2020 overview.

The orthopaedic treatment of children with arthrogryposis multiplex congenita has evolved steadily over the past two decades. Interrelated factors have spurred this on, including better appreciation of the functional potential of persons with arthrogryposis, development of newer procedures specific for the arthrogrypotic deformities, and outcomes studies that provide understanding of the overall capabilities of adults with arthrogryposis and follow-up to determine which treatments were beneficial and which were not. This article briefly sketches out of some of these advances and indicates areas that need further development. Outcome studies show that the majority of adults with arthrogryposis are ambulatory but less than half are fully independent. Adults frequently experience ongoing pain, particularly foot and back pain, limiting ambulation and standing. Advancements in the upper extremity treatment include improving elbow function, wrist repositioning, and improving thumb positioning. In the lower extremities, correction of hip and knee contractures leads to improved ambulatory potential, and treating clubfeet with serial casting decreases poor outcomes. Clinical evaluation, both physical examination and assessment of the patient's needs, are important in directing treatment in arthrogryposis. Further outcomes studies are needed to continue to refine procedures and define the appropriate candidates.

Application of internal and external lysis combined with Ilizarov external fixation technology for severe knee pathological flexion contracture deformity in children

To investigate the effectiveness of internal and external lysis combined with Ilizarov external fixation technology for severe knee pathological flexion contracture deformity in children. A retrospective analysis was made on 12 children (12 knees) with severe knee pathological flexion contracture deformity who were treated with internal and external lysis and Ilizarov external fixation between August 2012 and January 2017. There were 9 boys and 3 girls with an age of 3-12 years (mean, 8.4 years). There were 8 cases of tuberculosis, 3 cases of haemophilia A, and 1 case of residual deformity after extensive hemangioma drug injection. The disease duration ranged from 5 months to 4 years, with an average of 20.3 months. The degree of knee contracture was (67.42±23.30)°, and the range of motion of knee was (38.33±14.98)°. The preoperative Western Ontario and McMaster University Osteoarthritis Index (WOMAC) score was 78.42±15.57. The complication was observed after operation, and the degree of knee contracture, range of motion, and WOMAC score at 3 months and 1 year after operation were recorded and compared with those before operation. The operations completed successfully in all children. All the 12 cases were followed up 9-24 months (mean, 14.5 months). All incisions healed by first intention after operation. The knee function of all children improved significantly and the weight-bearing walking function of the lower limbs restored. The degree of knee contracture, range of motion, and WOMAC score were significantly improved at 3 months and 1 year after operation (P<0.05), but there was no significant difference between 3 months and 1 year after operation (P>0.05). For severe knee pathological flexion contracture deformity in children, application of internal and external lysis combined with Ilizarov external fixation has advantages, such as small trauma, rapid recovery, and early postoperative knee function training, and good effectiveness.

E-POSTERS – EARLY ONSET MUSCLE DISEASE – CASE REPORTS: EP.120ADSSL1 distal myopathy presenting with a more rapid progressive course in patient with trisomy 21

We report a 22 year old female of mixed European and Mexican background with novel compound heterozygous ADSSL1 gene mutations (p.Gly326Asp, pat and c.1202+1G>A, mat) identified by exome sequencing with a more progressive clinical course due to her other diagnosis of trisomy 21 (T21). Her development was appropriate for T21, but she never learned to run, jump or use stairs independently. At age 8 yr, her motor skills started to regress with emergence of weakness. She used a walker by 10 yr and lost ambulation at 12 yr. Currently, she cannot weight-bear (strength 1/5 in most leg muscles; quadriceps at 1-2/5), but has more preserved upper extremity use (strength 3 to 3-/5 range). She has hip, knee contractures, end-grade elbow contractures, and coexistence of finger flexor contractures with laxity in PIP and DIP joints. Her cognitive delays are typical for T21. She developed progressive scoliosis that required T4-L4 spinal fusion at 12 yr of age. There is no cardiomyopathy and her LVSF is 36%. Nocturnal hypoventilation started at age 13 yr with use of BiPAP during sleep since 16 yr of age. Unlike previously reported cases, she had a normal CK and her muscle biopsy at 14 yr did not show rimmed vacuoles or nemaline rods but rather severe myopathic changes: fibrosis and adipose infiltration, variation in fiber size with small, atrophic fibers intermixed with hypertrophic fibers, rounded and splitting fibers, increased central nuclei and occasional degenerating/regenerating fibers. To date, ADSSL1 gene mutations, encoding an enzyme converting inosine monophosphate (IMP) to adenosine monophosphate (AMP), have been reported only in 9 Korean patients from 6 families with 8 of the 9 patients having the same compound heterozygous mutations, suggesting a founder-effect. Identification of another patient with novel mutations suggests that this form of myopathy is panethnic and likely underdiagnosed among patients presenting with signs of generalized and distal myopathy.

Distal Femoral Shortening Osteotomy for Severe Knee Flexion Contracture and Crouch Gait in Cerebral Palsy.

Although there have been advancements of surgical techniques to correct gait abnormalities seen in patients with cerebral palsy, the crouch gait remains one of the most difficult problems to treat. The purpose of this retrospective study was to examine our results of distal femoral shortening osteotomy (DFSO) and patellar tendon advancement (PTA), performed in patients with crouch gait associated with severe knee flexion contracture. A total of 33 patients with a mean fixed knee contracture of 38° were included in the study. The mean age at the time of surgery was 12.2 years and the mean follow-up was 26.9 months. The measurements of clinical, radiological, and gait parameters were performed before and after surgery. The mean degrees of knee flexion contracture, Koshino index of patella height, and Gait Deviation Index were found to be significantly improved at the time of final follow-up. The maximum knee extension during the stance phase improved by an average of 25°, and the range of knee motion during gait increased postoperatively. On the other hand, the mean anterior pelvic tilt increased by 9.9°. Also, the maximum knee flexion during the swing phase decreased and the timing of peak knee flexion was observed to be delayed. We conclude that combined procedure of DFSO and PTA is an effective and safe surgical method for treating severe knee flexion contracture and crouch gait. However, the surgeons should be aware of the development of increased anterior pelvic tilt and stiff knee gait after the index operation.

A study on role of intramedullary interlocking nailing in the complex femoral shaft fractures

&lt;p class="abstract"&gt;&lt;strong&gt;Background:&lt;/strong&gt; Fractures of the shaft of the femur are a major cause of morbidity and mortality in patients who sustain high energy trauma. Morbidity arises from limb shortening, malalignment, knee contractures and other complications of fracture.&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Methods:&lt;/strong&gt; The aim of our study is to analyze the results of complex femoral shaft fractures treated by intramedullary interlocking nailing in our institution. Totally 20 cases of complex femoral fractures from 2007-2009 were treated with intramedullary interlocking at Krishanakumar Orthopedic Care Hospital, Nagercoil were included in our study.&lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Results:&lt;/strong&gt; We found that fracture of femur is most common in 2nd, 3rd and 4th decade of life, with mean age of 35.85 years. Vehicular accident in 17 patients was observed to be the main cause of fracture in our series (85%). 4 patients started full weight bearing at 10th week, 9 patients were able to bear full weight at 12th week, 4 patients at 14th week and 2 at 16th week. Average time of full weight bearing was 12.4 weeks. One patient developed deep infection (osteomyelitis) at 12 weeks and later non union was seen and unable to bear full weight.&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; Intramedullary interlocking nailing for complex femoral fractures has been established worldwide as the gold standard treatment because of its load sharing property, internal splinting, and rotational stability. These contribute the stable osteosynthesis.&lt;/p&gt;&lt;p class="abstract"&gt; &lt;/p&gt;

Improved Clinical and Functional Outcomes in Crouch Gait Following Minimally Invasive Hamstring Lengthening and Serial Casting in Children With Cerebral Palsy.

Serial extension casting represents a novel solution for addressing residual knee flexion contractures following hamstring lengthening in children with cerebral palsy. The purpose of this study was to investigate postoperative changes in patients following hamstring lengthening with a serial casting protocol. Measures from preoperative and postoperative gait analyses were reviewed retrospectively for 19 patients with cerebral palsy who underwent hamstring lengthening followed by serial extension casting. Postoperative changes in clinical, functional, and kinematic parameters were assessed using paired parametric methods. Improvements were measured in popliteal angle, knee contracture, peak stance phase knee extension, sagittal plane range of motion of the knee during walking, Gait Deviation Index, and pediatric outcomes data collection instrument Global score. Nearly 80% of the cohort (15/19 patients) demonstrated a significant or moderate response to the intervention, whereas 20% demonstrated no improvement. Of note, significantly increased anterior pelvic tilt was also observed. Hamstring lengthening combined with a serial casting protocol was associated with significant postoperative improvements in a range of clinical (eg, knee contracture), functional (eg, pediatric outcomes data collection instrument Global), and kinematic (eg, knee extension in stance) parameters. Improvements following this minimally invasive surgery were comparable to outcomes from procedures with higher complication rates. This is a Level III Therapeutic Study (retrospective study investigating the results of a treatment).

Botulinum toxin type A injection increases range of motion in hip, knee and ankle joint contractures of children with cerebral palsy

This study aims to evaluate the clinical outcomes of children with spastic type cerebral palsy (CP) treated with botulinum toxin type A (BoNT-A) injection for lower limb contracture and the influence of age, gender, functional level and degree of initial contracture on treatment outcomes. Clinical records at pre-BoNT-A injection and post-BoNT-A injections of 153 sessions of a total of 118 consecutive children (67 boys, 51 girls; mean age 5.9±2.6 years; range, 2.5-16 years) were retrospectively evaluated. Degrees of pre- and post-injection contracture were evaluated. Post-injection supplemental casting for 10 days was recorded in all cases. Less than 20° of hip flexion contracture, more than 30° of hip abduction, a negative prone Ely test, less than 50° of popliteal angle and at least 5° of ankle dorsiflexion values at post-injection were accepted as sufficient clinical improvement. Sufficient post-injection range of motion (ROM) was observed in 80% of cases with hip flexion contracture, in 45% of cases with hip adduction contracture, in 84% of cases with knee flexion contracture and in 77% of cases with ankle equinus contracture. Prone Ely test that was positive in 60% of cases with knee extension contracture was negative at post-injection. Improvement in contractures were prominent in children with lesser degree initial contractures. Botulinum toxin type A injection increases ROM in hip, knee and ankle joint contractures in CP. Although age, gender and functional level may influence the clinical outcomes, pre-treatment level of contracture is the main determinant in improvement in ROM at post-injection.

Percutaneous Versus Open Hamstring Lengthening in Spastic Diplegic Cerebral Palsy.

Open hamstring lengthening (oHSL) is commonly performed to decrease knee contracture and improve gait and posture for children with spastic diplegia. Furthermore, percutaneous hamstring lengthening (pHSL) is also gaining popularity as an alternative to the open approach. This study aimed to compare the results of pHSL versus oHSL and to determine the efficacy and safety of the percutaneous approach. This retrospective included 54 patients (108 knees) with spastic diplegia operated for flexed knee gait with either open or percutaneous HSL. The mean age of the participants at the time of surgery was 10.3±1.7 years (age range: 5-25 years) for the open and 8.5±1.5 years (age range: 7-23 years) for the percutaneous group. Overall, 29 and 25 children were subjected to oHSL and pHSL, respectively. The mean durations of follow-up were 19.1 months (range: 12-49 months) and 18.3 months (range: 14-45 months) for oHSL and pHSL groups, respectively. In the open group, the mean of preoperative popliteal angle decreased from 64.3±3.6 to 28.4±4.3 (P<0.001), and in the percutaneous group from 63.8±2.7 to 29.5±2.3 (P<0.001). The obtained results revealed no significant differences between the two approaches leading to a similar improvement among the investigated patients (P=0.83). Although the Gross Motor Function Class Score improved significantly within each group (P<0.001); this improvement was insignificant between the groups (P=0.88). The mean of hospital stay for the percutaneous group was 1.6 days (range:1-3 days) compared to 3.6 days (range: 2-6 days) for the open group, which indicated a significant difference (P=0.001). The mean values of total cost were $333 and $473 in the percutaneous group and open group (P=0.001), respectively. There was no significant difference between the groups regarding the complication rate (P=0.85). Percutaneous HSL is a safe, easy, rapid, and brief procedure that is as effective as the open technique for children with spastic diplegia in a short period of time. However, it is essential to examine the effects of this approach during longer follow-ups to generalize the findings of the current study.

Effects of hypertonia on contracture development in rat spinal cord injury.

Experimental animal study. Spastic hypertonia is originally believed to cause contractures from clinical observations. Botulinum toxin is effective for the treatment of spasticity and is widely used in patients who have joints with contractures. Using an established rat model with knee contractures after spinal cord injuries, we aimed to verify whether hypertonia contributes to contracture development, and the botulinum toxin improves structural changes in muscles and joint components responsible for contractures. University laboratory in Japan. To evaluate the effect of hypertonia on contracture development, the rats received botulinum toxin injections after spinal cord injuries. Knee extension motion was measured with a goniometer applying a standardized torque under anesthesia, and the contribution by muscle or non-muscle structures to contractures were calculated by measuring joint motion before and after the myotomies. We quantitatively measured the muscle atrophy, muscle fibrosis, and synovial intima length. Botulinum toxin injections significantly improved contractures, whereas did not completely prevent contracture development. Botulinum toxin was effective in improving the muscular factor, but little difference in the articular factor. Spinal cord injuries induced muscle atrophy, and botulinum toxin significantly accelerated muscle atrophy and fibrosis. The synovial intima length decreased significantly after spinal cord injuries, and botulinum toxin did not improve this shortening. This animal study provides new evidence that hypertonia is not the sole cause rather is the partial contributor of contractures after spinal cord injuries. Furthermore, botulinum toxin has adverse effects in the muscle.

Anterior Guided Growth of the Distal Femur for Knee Flexion Contracture: Clinical, Radiographic, and Motion Analysis Results.

Fixed knee flexion deformity is common in children with neuromuscular disorders. Anterior guided growth (AGG) of the distal femur can achieve gradual correction in patients who are skeletally immature. Little outcome data are available on this procedure. This is a retrospective matched cohort study. Forty-two knees (26 patients) underwent AGG surgery at our institution between 2007 and 2017. All patients underwent instrumented 3-dimensional gait analysis (3DGA). A nonsurgical control group of 49 knees (43 patients) was selected that matched for age, severity of preoperative knee contracture, and 3DGA parameters. Clinical, radiographic, and 3DGA outcomes were assessed and compared. Average preoperative knee flexion deformity in AGG group was 13±8 degrees. Following AGG, deformity improved by 8±7 degrees (P<0.001) as measured radiographically and by 7±7 degrees (P<0.001) as measured on physical examination. Average rate of correction was 0.7±0.6 degrees per month or 8±8 degrees per year. The 3DGA parameters such as minimum stance phase knee flexion and knee flexion at initial contact were also significantly improved following AGG. In contrast, flexion deformity as measured radiographically worsened by 3±3 degrees (P=0.002) in the control group. Twelve knees (29%) had failure of correction. Predictors of failure included older age, lower level of function, and greater severity of preoperative deformity. The age at time of surgery and the anteroposterior position of plate fixation relative to the distal femoral physis were associated with rate of correction. In children with neuromuscular disorders, AGG of the distal femur is effective in improving degree of fixed knee flexion deformity as well as objective gait parameters. A significant portion of knees experience inadequate correction. Addressing factors associated with correction failure (ie, age and plate placement) may improve the procedure's success. Level III-case control study.

SAT-087 Familial Generalized Lipodystrophy in Two Siblings Due to Homozygous p.Arg545His LMNA Mutation

Background: Homozygous mutations in lamin A/C (LMNA) gene are extremely rare and have been reported to cause mandibuloacral dysplasia type A, Emery-Dreifuss muscular dystrophy-3, Charcot-Marie-Tooth axonal neuropathy type 2B1, progeroid syndrome and severe familial partial lipodystrophy. We report a novel syndrome of familial generalized lipodystrophy due to homozygous p.Arg545His LMNA mutation in two sisters. Clinical Cases: The proband, a 18.5-year-old Hispanic female, was diagnosed with speech delay at age 4 years; and developed lipodystrophy and acanthosis nigricans at age 10. She was diagnosed with diabetes and elevated serum aspartate and alanine aminotransferases at 11 years of age; and extreme hypertriglyceridemia (serum triglycerides >10,000 mg/dL), xanthomas and three episodes of acute pancreatitis at 14 years of age. Her liver biopsy showed hepatocytes with pleomorphic and enlarged mitochondria and variably enlarged glycogenated nuclei, with macro-vesicular and micro-vesicular steatosis in 2% of hepatocytes. At age 16, she had severe metabolic abnormalities despite low fat diet, metformin 1000 mg, insulin > 600 units, fish oil 4 g, gemfibrozil 600 mg, and lisinopril 10 mg per day. Subcutaneous metreleptin 2.5 mg/d was initiated which improved glycemic control, liver enzymes and triglycerides, with no further episode of acute pancreatitis. She currently takes metreleptin and insulin 140 units daily. She recently developed right hydrosalpinx, 1.8 cm posterior uterine fibroids, and 2.1 cm endometriosis. Her 17-year-old sister had speech delay in infancy, and recurrent pyelonephritis, and lost sc fat in early childhood. She developed hypothyroidism, elevated transaminases, and diabetes at age 10, 14, and 16 years, respectively. She had one episode of acute pancreatitis and an incidental 6.8 cm ovarian cyst was found at age 16 years. Both of them have generalized loss of sc fat, more from the extremities than from the trunk, thin lips with perioral pigmentation, dry skin, short 5th finger with clindodactyly, and bilateral ankle contractures. The proband also had bilateral knee contractures. They have no acro-osteolysis, buffalo hump, double chin, myopathy or neuropathy. Whole exome sequencing of both the patients revealed homozygous mutation chr1:156107470G>A, p.Arg545His (rs142191737, minor allele frequency 0.000038 in Latinos) in LMNA (http://gnomad.broadinstitute.org). The mother and a younger brother are both heterozygous for p.Arg545His variant and are healthy without any lipodystrophy. Conclusions: Homozygous p.Arg545His LMNA mutation results in a novel syndrome of childhood-onset familial generalized lipodystrophy with early onset diabetes, hypertriglyceridemia, and hepatic steatosis, speech delay and joint contractures. Metreleptin therapy may be helpful in improving metabolic derangements.

Outcomes of Total Knee Arthroplasty in Human Immunodeficiency Virus-Positive Patients.

Successful management of human immunodeficiency virus (HIV) has lengthened the life expectancy of HIV-positive (HIV + ) patients; consequently, increasing numbers of this patient population are candidates for total knee arthroplasty (TKA). This study seeks to provide detailed results of TKA in HIV+ patients and compare them to an HIV-negative (HIV - ) cohort. We performed a multicenter retrospective case-control study comparing 25 HIV+ patients to 25 HIV- patients undergoing TKA. The analysis included a cohort and subgroup stratification based on the presence or absence of postoperative complications. Prior to TKA, all 25 patients had a documented history of HIV infection. No intraoperative complications were reported. Ninety-day postoperative complications included knee contracture (one HIV + , no HIV - , p = 0.3124), periprosthetic joint infection requiring revision (one HIV + , no HIV - , p = 0.3124), mechanical fall requiring incision and drainage (one HIV + , no HIV - , p = 0.3124), and death (one HIV + , no HIV - , p = 0.3124). The average follow-up was 18.80 months. HIV+ patients stayed in the hospital for an average of 3.8 days following surgery, which was significantly greater than HIV- patients (2.28 days; p = 0.0040). As the life expectancy for HIV+ patients improves, a greater number will be TKA candidates. This study has shown an acceptable postoperative complication risk in an HIV+ patient population undergoing TKA, albeit with a significantly increased hospital length of stay.

Rabbit Model of Extending Knee Joint Contracture: Progression of Joint Motion Restriction and Subsequent Joint Capsule Changes after Immobilization.

This study aimed to develop a rabbit model of knee contracture in extension and investigate the natural history of motion loss and time-dependent changes in the joint capsule after immobilization. We immobilized the unilateral knee joints of 32 rabbits by maintaining the knee joint in a plaster cast at full extension. Eight rabbits were euthanized at 2, 4, 6, and 8 weeks after casting, respectively, and the lower extremities were disarticulated at the hip joint. Eight control group rabbits that did not undergo immobilization were also examined. We assessed the progression of joint contracture by measuring the joint range of motion, evaluating the histologic alteration of the capsule, and assessing the mRNA levels of transforming growth factor β1 (TGF-β1) in the anterior and posterior joint capsules. After 2 weeks of joint immobilization, the knee joint range of motion was limited, the synovial membrane of the suprapatellar and posterior joint capsules was thickened, the collagen deposition was increased, and the mRNA levels of TGF-β1 were elevated in the anterior and posterior joint capsules. These changes progressed rapidly until 6 weeks of immobilization and may advance slowly after 6 weeks. Joint contracture developed at the early stage of immobilization and progressed over time. The changes in the anterior and posterior joint capsules after joint immobilization may contribute to the limitation in flexion. The elevated mRNA expression of TGF-β1 may be related to joint capsule fibrosis and may be one of the causes of joint contracture.

Range of Extension Correlates with Posterior Capsule Length after Knee Remobilization.

Knee injuries are common in sports, and postinjury immobilization is often required to protect healing tissues and alleviate pain, but both the injury and the immobilization can lead to a knee contracture. Knee flexion contractures limit performance. Previous research has identified posterior knee capsule fibrosis as a contributor to immobility-induced knee flexion contractures. This study aims to measure posterior knee capsule length at various durations of remobilization after knee immobilization and to correlate with the recovery of knee range of motion. Two hundred fifty-nine male Sprague-Dawley rats had one knee extra-articularly immobilized in flexion with a Delrin® plate at a 45° angle for one of six durations: 1, 2, 4, 8, 16, or 32 wk, followed by spontaneous remobilization after plate removal, which lasted zero, one, two, and four times the duration of immobilization. The contralateral knees served as controls. The posterior knee capsule length was measured by histomorphometry. These measures were correlated with previously published range of motion data from the same cohort of specimens. Knees immobilized for 1 and 2 wk partially recovered posterior capsule length (P > 0.05). Knees immobilized beyond 2 wk failed to recover posterior capsule length, irrespective of the duration of remobilization (P < 0.05). The residual posterior capsule shortening correlated with the lack of knee extension (P < 0.003). For knee injuries requiring more than 2 wk of immobilization, unassisted remobilization will not restore posterior knee capsule shortening and the reduction in knee extension. These results support the role of the posterior capsule in knee joint contracture and the need to minimize the duration of immobility and to assist the recovery of the range of knee extension after a sport injury.

Using a Knee Arthrometer to Evaluate Tissue-specific Contributions to Knee Flexion Contracture in the Rat.

Normal knee range of motion (ROM) is critical to well-being and allows one to perform basic activities such as walking, climbing stairs and sitting. Lost ROM is called a joint contracture and results in increased morbidity. Due to the difficulty of reversing established knee contractures, early detection is important, and hence, knowing risk factors for their development is essential. The rat represents a good model with which the effect of an intervention can be studied due to the similarity of rat knee anatomy to that of humans, the rat's ability to tolerate long durations of knee immobilization in flexion, and because mechanical data can be correlated with histologic and biochemical analysis of knee tissue. Using an automated arthrometer, we demonstrate a validated, precise, reproducible, user-independent method of measuring the extension ROM of the rat knee joint at specific torques. This arthrometer can be used to determine the effects of interventions on knee joint ROM in the rat.

Knee contractures in children with cerebral palsy

Knee contractures in children with cerebral palsy

CMT AND NEUROGENIC DISEASE: P.340Distal arthrogryposis, peripheral neuropathy and an autosomal dominant pedigree leading to a diagnosis of TRPV4-pathy

Transient receptor potential vanilloid 4 channel (TRPV4) is a calcium permeable cation channel predominantly expressed in bone and peripheral nervous system (PNS). TRPV4 mutations cause a spectrum of skeletal disorders and PNS syndromes, including Charcot-Marie-Tooth disease type 2C, spinal muscular atrophy, arthrogryposis, and scapuloperoneal spinal muscular atrophy. A 6-year-old boy from a non-consanguineous family was referred to our clinic due to arthrogryposis multiplex congenita (AMC) and weakness of lower limbs. He was not able to walk. There were six other members in the family diagnosed with varying degrees of peripheral neuropathy and short stature including his father and uncle. Physical examination showed muscle weakness in lower limbs with predominantly distal involvement and atrophy. Lower limbs were short. There were flexion contractures of knees and ankles. Deep tendon reflexes were absent in lower limbs. There was neither motor deficit in upper limbs nor cranial nerve involvement. Electromyography showed lower motor neuron involvement. Exome sequencing targeted to genes involved in arthrogryposis revealed a heterozygous mutation in TRPV4 (c.805C>T; p.Arg269Cys). This mutation is known to be pathogenic in Clinvar database (rs267607146). The mutation was confirmed by Sanger sequencing and cosegregates with the disease in the family indicating that mutation of this gene is responsible for the disease phenotype. TRPV4-pathies represent a heterogeneous group of diseases presenting with skeletal dysplasias and/or peripheral nervous system involvement. Although our patient is grouped clinically as distal SMA with arthrogryposis, there are patients who present with scapuloperoneal SMA and skeletal dysplasia harbouring the same mutation. Despite significant overlaps in presentations, distal arthrogryposis in combination with short stature, skeletal abnormalities, disproportion of upper and lower extremities and neuropathy should be clinical clues for TRPV4 mutations.