Does crouch alter the effects of neuromuscular impairments on gait? A simulation study.

Cerebral palsy (CP) is a neurologic injury that impacts control of movement. Individuals with CP also often develop secondary impairments like weakness and contracture. Both altered motor control and secondary impairments influence how an individual walks after neurologic injury. However, understanding the complex interactions between and relative effects of these impairments makes analyzing and improving walking capacity in CP challenging. We used a sagittal-plane musculoskeletal model and neuromuscular control framework to simulate crouch and nondisabled gait. We perturbed each simulation by varying the number of synergies controlling each leg (altered control), and imposed weakness and contracture. A Bayesian Additive Regression Trees (BART) model was also used to parse the relative effects of each impairment on the muscle activations required for each gait pattern. By using these simulations to evaluate gait-pattern specific effects of neuromuscular impairments, we identified some advantages of crouch gait. For example, crouch tolerated 13 % and 22 % more plantarflexor weakness than nondisabled gait without and with altered control, respectively. Furthermore, BART demonstrated that plantarflexor weakness had twice the effect on total muscle activity required during nondisabled gait than crouch gait. However, crouch gait was also disadvantageous in the presence of vasti weakness: crouch gait increased the effects of vasti weakness on gait without and with altered control. These simulations highlight gait-pattern specific effects and interactions between neuromuscular impairments. Utilizing computational techniques to understand these effects can elicit advantages of gait deviations, providing insight into why individuals may select their gait pattern and possible interventions to improve energetics.

Devil's Advocate: Evidence-Based Recommendation for "One Breast-One Insertion Funnel" Policy.

BACKGROUND: Rates of capsular contracture have reduced significantly since the use of insertion funnels to place breast implants became routine. However, due to financial constraints, the same funnel is usually used for implantation of both sides. OBJECTIVES: The aim of this study was to determine whether the risk of capsular contracture is higher for the second breast when the same insertion funnel is used for both breasts. METHODS: The authors collected a sample of the insertion funnel tip immediately after removing the funnel from its sterile packaging and another tip sample after the funnel had been used to insert the first implant. These samples were sent for microbiological culture evaluations. Capsular contracture rates in the first implanted breast vs the second implanted breast were then retrospectively analyzed. RESULTS: All samples taken from the funnel before the first implantation showed no bacterial growth. All 10 samples taken from the funnel after the first implantation showed organism growth (8 were positive for Staphylococcus epidermidis and 2 for Cutibacterium acnes). Retrospective analysis of the results revealed that the overall capsular contracture rate had reduced after the authors began to use insertion funnels. However, this complication was still more common on the second implanted breast. CONCLUSIONS: Surgeons should consider the use of separate insertion funnels for each breast. This might help to slightly reduce the incidence of capsular contracture.See the abstract translated into Hindi, Portuguese, Korean, German, Italian, Arabic, and Chinese (Simplified and Traditional) online here: https://doi.org/10.1093/asj/sjad288.

Transurethral columnar balloon dilation of the prostate combined with holmium laser incision for bladder neck contracture in day-surgery mode.

The study aimed to investigate the clinical effect of transurethral columnar balloon dilation of the prostate combined with holmium laser in the treatment of bladder neck contracture (BNC). This retrospective study included 41 patients with BNC, who had been treated with transurethral columnar balloon dilation and holmium laser in our hospital from June 2020 to June 2022. Admission, operation, and discharge of all the patients were completed in 24 h. The patients' satisfaction, postoperative complications, and chronic pain after operation were followed up. Clinical parameters, such as International Prostate Symptom Score (IPSS), maximum urinary flow rate (Qmax), quality of life (QoL), and post-void residual volume (PVR) in pre-operation, 1 month and 6 months after operation were recorded. All patients underwent the operations successfully. Six patients experienced urge incontinence and one patient experienced recurrence of BNC after 12 months. At 1 month and 6 months after the operation, IPSS, QoL, PVR, and Qmax of the patients were significantly better than those before the operation (P < 0.05). Transurethral columnar balloon dilation of the prostate combined with holmium laser can effectively treat BNC with simple performance and satisfactory clinical effects. It is a minimally invasive treatment that can be conducted by simple day surgery.

Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.

BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with continuous motor function loss and complications, such as scoliosis and contractures. Understanding the natural history of SMA is key to demonstrating the long-term outcomes of SMA treatments. This study reviews the natural history of motor function, scoliosis, and contractures in patients with SMA. METHODS: Electronic databases were searched from inception to June 27, 2022 (Embase, MEDLINE, and Evidence-Based Medicine Reviews). Observational studies, case-control studies, cross-sectional studies, and case series reporting on motor function (i.e., sitting, standing, and walking ability), scoliosis, and contracture outcomes in patients with types 1-3 SMA were included. Data on study design, baseline characteristics, and treatment outcomes were extracted. Data sets were generated from studies that reported Kaplan-Meier (KM) curves and pooled to generate overall KM curves. RESULTS: Ninety-three publications were included, of which 68 reported on motor function. Of these, 10 reported KM curves (3 on the probability of sitting in patients with types 2 and 3 SMA and 8 on the probability of walking/ambulation in patients with type 3 SMA). The median time to loss of sitting (95% CI) was 14.5 years (14.1-31.5) for the type 2 SMA sitter population (their maximum ability was independent sitting). The median time to loss of ambulation (95% CI) was 13.4 years (12.5-14.5) for type 3a SMA (disease onset at age younger than 3 years) and 44.2 years (43.0-49.4) for type 3b SMA (disease onset at age 3 years or older). Studies including scoliosis and contracture outcomes mostly reported non-time-to-event data. DISCUSSION: The results demonstrate that a high degree of motor function loss is inevitable, affecting patients of all ages. In addition, data suggest that untreated patients with types 2 and 3 SMA remain at risk of losing motor milestones during late adulthood, and patients with types 3a and 3b SMA are at risk of loss of ambulation over time. These findings support the importance of stabilization of motor function development even at older ages. Natural history data are key for the evaluation of SMA treatments as they contextualize the assessment of long-term outcomes.

Holistic Approach to Burn Reconstruction and Scar Rehabilitation.

More than 11 million burn injuries occur each year across the world. Many people with burn injuries, regardless of injury size, develop hypertrophic scar, contracture, unstable scar, heterotopic ossification, and disability resulting from these sequelae. Advances in trauma systems, critical care, safe surgery, and multidisciplinary burn care have markedly improved the survival of people who have experienced extensive burn injuries. Burn scar reconstruction aims to improve or restore physical function, confidence, and body image. Like acute burn care, burn scar reconstruction requires thoughtful, coordinated approaches along the continuum of burn injury, recovery, and rehabilitation.

Implant-Based Breast Reconstruction: Impact of Body Mass Index on Postoperative Complications and Aesthetic Results: A 5-Year, Single-Center Study.

BACKGROUND: Increasing adoption of implant-based breast reconstruction (IBR) has raised expectations regarding postoperative outcomes and aesthetic results. BMI has been extensively explored as a predictor of complications. This study is the first to examine complication rates in underweight subjects, and compares these rates among underweight, normal weight, overweight, and obese patients. OBJECTIVES: The aim of this study was to investigate the influence of BMI on postoperative complications and aesthetic results in IBR following mastectomy. METHODS: Retrospective analysis encompassed patients undergoing mastectomy with subsequent IBR, performed by a collaborative team of breast and plastic surgeons. Demographics, treatment specifics, and outcomes were evaluated by univariate and multivariate regression models. Significance was determined at P < .05. RESULTS: In total, 1046 IBRs were performed in 921 patients, of whom 63 had a BMI <18.5 kg/m2, 572 were normal weight, 215 were overweight, and 71 were obese. Significantly higher complication rates were observed in both obese and overweight patients compared with normal-weight patients (P < .001). Each unit increase in BMI correlated to 7% increased odds of overall complications and 13% increased odds of reconstructive failure. Underweight individuals had higher capsular contracture rates than normal-weight patients, 14.3% vs 3.65%, respectively (P = .001). In addition, aesthetic complications rates in underweight patients were higher than in normal-weight patients, 36.4% vs 25.7%, respectively (P < .05). CONCLUSIONS: This study confirmed BMI to be a strong predictor of postoperative complications and aesthetic outcomes, and demonstrates that low BMI has a significant impact on the incidence of capsular contracture and aesthetic complications.

Clinical Results of Mentor MemoryGel Xtra Breast Implants From the GLOW Clinical Trial.

BACKGROUND: Mentor MemoryGel Xtra breast implants (Mentor Worldwide LLC, Irvine, CA) were designed to maintain the soft, natural feel of MemoryGel implants while increasing fullness and projection and minimizing wrinkling, rippling, and related complications through optimization of shell gel-fill. OBJECTIVES: To measure 3-year safety and effectiveness of MemoryGel Xtra breast implants in the Mentor MemoryGel and MemoryShape Combined Cohort Clinical Study. METHODS: Participants were implanted with MemoryGel Xtra breast implants in a prospective, multicenter clinical trial. Rates of complications and reoperations were analyzed to assess device safety and BREAST-Q was employed to assess device effectiveness. RESULTS: Two hundred eighty-seven females receiving MemoryGel Xtra breast implants were enrolled. Complication rates in the primary augmentation cohort included rates of 1.5% for implant-related reoperation, 2.3% for explantation, and 1.5% for Baker grade III or IV capsular contracture. For the revisional augmentation cohort, these rates were 2.8% for implant-related reoperation, 4.3% for explantation, and 3.0% for capsular contracture. For the primary reconstruction cohort, these rates were 12.0% for implant-related reoperation, 12.3% for explantation, and 7.3% for capsular contracture. For the revisional reconstruction cohort, these rates were 7.1% for capsular contracture, with zero implant-related reoperations or explantations. There were no reports of infection or implant malposition or displacement in any of these cohorts. Each cohort showed significantly improved satisfaction with breasts and psychosocial and sexual well-being at 1 year following the primary procedure. CONCLUSIONS: These data are consistent with legacy clinical data for MemoryGel and provide the first published safety and effectiveness data regarding the use of MemoryGel Xtra breast implants for breast augmentation and reconstruction.

Relationship between hand stereotypies and purposeful hand use and factors causing skin injuries and joint contractures in individuals with Rett syndrome.

BACKGROUND: Skin injuries and joint contractures in the upper limbs are observed in approximately 50 % of individuals with Rett syndrome, respectively. AIMS: To investigate the relationship between stereotypic hand movements and purposeful hand skills, items related to these, and factors that cause upper extremity skin injuries and joint contractures in individuals with Rett syndrome. STUDY DESIGN: We conducted a cross-sectional observational study in 2020 with families belonging to either of the two largest Rett syndrome organizations in Japan. SUBJECTS: In 2020, we sent a questionnaire to 194 Japanese families. OUTCOME MEASURES: We used descriptive statistics to indicate frequency in each question. We analysed the association between hand stereotypies and purposeful hand use, their associations with each questionnaire item, and the relationship between the occurrence of skin injuries and joint contractures. RESULTS: We acquired information from 72 cases. We found correlations between stereotypy frequency with reaching and between purposeful hand use with intellectual development grade and hand function. Hand and finger skin injuries and elbow and finger joint contractures were associated with wringing/washing, grasping, locomotion, reaching, and intellectual development grade. We identified cut-off points for the occurrence of elbow and finger joint contractures of 10 years 6 months, ability to roll over, finger feeds only, and understanding of simple words. CONCLUSIONS: Direct interventions can reduce hand stereotypies and increase purposeful hand use, while related items can be addressed with indirect interventions. Evaluations of factors that cause skin injuries and joint contractures can prevent their occurrence.

Reducing Peri-implant Capsule Thickness in Submuscular Rodent Model of Breast Reconstruction With Delayed Radiotherapy.

INTRODUCTION: Capsular contracture remains the most common complication following device-based breast reconstruction, occurring in up to 50% of women who also undergo adjuvant radiotherapy either before or after device-based reconstruction. While certain risk factors for capsular contracture have been identified, there remains no clinically effective method of prevention. The purpose of the present study is to determine the effect of coating the implant with the novel small molecule Met-Z2-Y12, with and without delayed, targeted radiotherapy, on capsule thickness and morphologic change around smooth silicone implants placed under the latissimus dorsi in a rodent model. METHODS: Twenty-four female Sprague Dawley rats each had 2 mL smooth round silicone breast implants implanted bilaterally under the latissimus dorsi muscle. Twelve received uncoated implants and twelve received implants coated with Met-Z2-Y12. Half of the animals from each group received targeted radiotherapy (20 Gray) on postoperative day ten. At three and 6 months after implantation, the tissue surrounding the implants was harvested for analysis of capsular histology including capsule thickness. Additionally, microCT scans were qualitatively analyzed for morphologic change. RESULTS: Capsules surrounding Met-Z2-Y12-coated implants were significantly thinner (P = 0.006). The greatest difference in capsule thickness was seen in the irradiated 6-month groups, where mean capsule thickness was 79.1 ± 27.3 µm for uncoated versus 50.9 ± 9.6 µm for Met-Z2-Y12-coated implants (P = 0.038). At the time of explant, there were no capsular morphologic differences between the groups either grossly or per microCT. CONCLUSIONS: Met-Z2-Y12 coating of smooth silicone breast implants significantly reduces capsule thickness in a rodent model of submuscular breast reconstruction with delayed radiotherapy.

[Experience of using rhythmic transcranial magnetic stimulation, extracorporeal shock wave therapy and botulinotherapy in individual motor recovery programs in patients with spastic paresis of the lower limb]. / Opyt ispol'zovaniya v individual'nykh programmakh dvigatel'nogo vosstanovleniya ritmicheskoi transkranial'noi magnitnoi stimulyatsii, ekstrakorporal'noi udarno-volnovoi terapii i botulinoterapii u patsientov so spasticheskim parezom nizhnei konechnosti.

Walking disorder is one of the most frequent consequences of stroke and traumatic brain injury, occurring in 80% of cases. Spastic paresis of the muscles of the lower extremity is the cause formed in 20-40% of patients within a few weeks after brain damage. In this case, a complex of symptoms occurs: motor deficiency (muscle paresis), increased muscle tone (spasticity), biomechanical changes in muscles, joints and surrounding tissues, contractures. Recovery of walking is a difficult task due to the peculiarities of its organization in the norm. At the same time, changes occurring in the muscles of the lower limb after a stroke, their modular reorganization, the formation of various pathological patterns, violation of the regulation of movements by the central nervous system, rapidly occurring changes in muscles, ligaments, complicate this process. Improving walking is one of the most important priorities of rehabilitation. Already at the second (stationary) stage of rehabilitation, patients have a lack of proper support on the lower limb, which inevitably leads to excessive load on the second limb, a change in the body scheme, incorrect foot placement, violation of the mechanics of walking (moving from heel to toe) due to plantar flexion / turn of the foot, etc. All this makes patients dependent on outside help, and walking unsafe, increases the risk of falls and complications (arthropathy, contracture, etc.). In this regard, it is important to timely diagnose the totality of changes in the lower limb and create optimal comprehensive rehabilitation programs using highly effective treatment methods aimed at reducing the severity of the motor defect, reducing spasticity and preventing complications. The article discusses the place of rhythmic transcranial magnetic stimulation, extracorporeal shock wave therapy and botulinum therapy during rehabilitation in patients with spastic paresis of the lower limb after a stroke. The results of the protocol of clinical approbation «Complex rehabilitation of patients with lower limb spasticity after focal brain damage at the second stage of medical rehabilitation¼ are presented.

ADM-Assisted Direct-to-Implant Prepectoral Breast Reconstruction in Postmastectomy Radiation Therapy Setting: Long-Term Results.

BACKGROUND: Postmastectomy radiotherapy (PMRT) on immediate breast reconstruction historically involved a marked increase in complication rate (up to 50%). Prepectoral breast reconstruction (PPBR) has shown promising early postoperative results. This study aims to evaluate PPBR long-term results in PMRT setting. MATERIALS AND METHODS: This is a retrospective monocentric analysis of 485 PPBR (439 patients) undergoing Acellular-Dermal-Matrix assisted direct-to-implant reconstruction (46 bilateral procedures) between January 2015 and December 2020 (mean FU:35.6 months). Group 1 comprised 401 PPBR not submitted to PMRT, and 84 reconstructions receiving PMRT in Group 2. Patients' characteristics, postoperative complication and revisional surgery rate were examined. PMRT characteristics and subcutaneous tissue thickness, measured in Group 2 by CT scan, were also evaluated. RESULTS: Long-term complication rate was 11.2% in Group 1 vs. 21.4% in Group 2 (P-value = .019). Capsular contracture represented the only complication associated to a statistically significant difference between the 2 groups (P-value < .001). In Group 2, only 4.8% implant loss and 8.3% severe capsular contracture rate was found. In patients who underwent PMRT, 38.9% of complications settled with no consequences, and only 4.8% of patients needed revisional surgery in the long-term FU. According to multivariate analysis, drug intake and PMRT were significantly associated with postoperative complications. In Group 2, a thinner subcutaneous tissue was linked to a higher complication risk. CONCLUSION: In our series, patients treated with PPBR who underwent PMRT, presented a low complication rate and minimal need for revisional surgery in the long-term follow-up, suggesting that this technique is feasible and safe also in PMRT context.

Orthopedic surgical procedures in people with hemophilia.

People with hemophilia tend to develop joint lesions secondary to the recurrent hemarthroses typical of their condition. These usually include chronic synovitis and arthropathy chiefly affecting their ankles, knees, and elbows. In addition, muscular hematomas, albeit less frequently, may also result in complications such as acute compartment syndrome, pseudotumors, bone cysts and peripheral nerve compression. Joint lesions may require some of the following surgical interventions: arthroscopic synovectomy (in cases of synovitis), arthroscopic joint debridement, radial head resection, opening-wedge tibial osteotomy, arthrodesis, arthrodiastasis (of the ankle), tendon lengthening (hamstrings, Achilles tendon), progressive extension of the knee by placing an external fixator in cases of flexion contracture of the knee, supracondylar femoral extension osteotomy in cases of knee flexion contracture and, eventually, a total joint arthroplasty when the affected joint has been destroyed and the patient experiences severe joint pain. Total knee arthroplasty in hemophilic patients is associated with a high infection risk (7% on average). As regards the complications following muscle hematomas, acute compartment syndrome requires urgent performance of a fasciotomy when hematological treatment is incapable of resolving the problem. Surgical resection of hemophilic pseudotumors is the best solution, with those affecting the pelvis (secondary to iliopsoas hematomas) being particularly difficult to resolve. Peripheral nerve lesions can often be effectively addressed with hematological treatment, although a surgical neurolysis of the ulnar nerve is indicated if nonoperative treatment fails.

Surgical outcomes following breast reconstruction in patients with and without a history of chest radiotherapy for Hodgkin lymphoma: a multicentre, matched cohort study.

BACKGROUND: Breast cancer is the most common treatment-related second malignancy among women with previous chest radiotherapy for Hodgkin lymphoma (HL). Little is known about the effects of this kind of radiotherapy on the outcomes of postmastectomy breast reconstruction (BR). This study compared adverse outcomes of BR after HL-related chest radiotherapy to matched controls. METHODS: The authors conducted a retrospective, matched cohort study in two expert cancer centres in the Netherlands. BRs after therapeutic or prophylactic mastectomy in HL survivors who received chest radiotherapy were matched with BRs in nonirradiated patients without HL on age at mastectomy date, date of BR, and type of BR. The primary outcome was complication-related BR failure or conversion and secondary outcomes were complication-related re-operation, capsular contracture, major donor-site complications, and complication-related ICU admission. The authors analyzed all outcomes univariably using Fisher's exact tests and the authors assessed reconstruction failure, complication-related re-operation, and capsular contracture with multivariable Cox regression analysis adjusting for confounding and data clustering. RESULTS: Seventy BRs in 41 patients who received chest radiotherapy for HL were matched to 121 BRs in 110 nonirradiated patients. Reconstruction failure did not differ between HL survivors (12.9%) and controls (12.4%). The comparison groups showed no differences in number of reoperations, major donor-site complications, or capsular contractures. BR in HL survivors more often let to ICU admission due to complications compared with controls ( P =0.048). CONCLUSIONS: We observed no increased risk of adverse outcomes following BR after previous chest radiotherapy for HL. This is important information for counselling these patients and may improve shared decision-making.

Risk factors for bladder neck contracture after transurethral resection of the prostate.

INTRODUCTION: Transurethral resection of the prostate (TURP) is the most frequently used treatment of benign prostate hyperplasia with a prostate volume of <80 mL. A long-term complication is bladder neck contracture (BNC). The aim of the present study was to identify the risk factors for BNC formation after TURP. METHODS: We conducted a retrospective analysis of all TURP primary procedures which were performed at one academic institution between 2013 and 2018. All patients were analyzed and compared with regard to postoperative formation of a BNC requiring further therapy. Uni- and multivariable logistic regression analyses (MVAs) were performed to identify possible risk factors for BNC development. RESULTS: We included 1368 patients in this analysis. Out of these, 88 patients (6.4%) developed BNC requiring further surgical therapy. The following factors showed a statistically significant association with BNC development: smaller preoperative prostate volume (p = 0.001), lower resected prostate weight (p = 0.004), lower preoperative levels of prostate-specific antigen (PSA, p < 0.001), shorter duration of the surgery (p = 0.027), secondary transurethral intervention (due to urinary retention or gross hematuria) during inpatient stay (p = 0.018), positive (≥100 CFU/mL) preoperative urine culture (p = 0.010), and urethral stricture (US) formation requiring direct visual internal urethrotomy (DVIU) postoperatively after TURP (p < 0.001), in particular membranous (p = 0.046) and bulbar (p < 0.001) strictures. Preoperative antibiotic treatment showed a protective effect (p = 0.042). Histopathological findings of prostate cancer (PCA) in the resected prostate tissue were more frequent among patients who did not develop BNC (p = 0.049). On MVA, smaller preoperative prostate volume (p = 0.046), positive preoperative urine culture (p = 0.021), and US requiring DVIU after TURP (p < 0.001) were identified as independent predictors for BNC development. CONCLUSION: BNC is a relevant long-term complication after TURP. In particular, patients with a smaller prostate should be thoroughly informed about this complication.

Functional and aesthetic outcomes of abdominal full-thickness skin grafts in paediatric postburn digital and palmar flexion contractures.

The study aimed to assess the functional and aesthetic outcomes of abdominal full-thickness skin grafts (FTSGs) in paediatric postburn digital and palmar flexion contractures. The digital and palmar functions and aesthetics of 50 children who met the criteria were evaluated at pre-operation, the 3rd- and 12th-month post-operation, respectively. In the evaluation, the Vancouver Scar Scale (VSS), total active movement (TAM), and Jebsen-Taylor Hand Function Test (JHFT) were used. The contralateral, unaffected hand served as the criteria for functional recovery. The complications of donor sites were observed, and the take rate of skin grafts was calculated. The VSS scores at the 3rd and 12th months post-operation were lower than those before the operation. The TAM of each finger was improved at the 3rd and 12th months post-operation, compared with that before the operation. There was a significant difference in the time to complete the JHFT between the affected hand and the unaffected at the 3rd month post-operation, but no significant difference between them at the 12th month post-operation. The excellent and good take rate of the skin grafts was 90.00%.No donor site complications were observed. The abdominal FTSGs are effective in repairing paediatric digital and palmar scar contractures, with satisfying functional and aesthetic results, especially in large defects after scar release and resection.

Scoliosis due to scar contracture caused by infection after cyst-peritoneal shunt: a case report and literature review.

BACKGROUND: Cyst-peritoneal (CP) shunt is one of the most common methods for the treatment of intracranial arachnoid cysts (ACs). Infection is a common postoperative complication. We report a patient with scoliosis due to scar contracture caused by infection after CP shunt. CASE DESCRIPTION: A 12-year-old boy underwent CP shunt surgery for the left frontoparietotemporal AC when he was 2 years old. At the age of 7 years, he underwent a shunt catheter removal procedure because of the infection caused by the fistula leading from the subcutaneous tunnel to the body surface. However, contracture of the subcutaneous scar from fistula infection caused scoliosis and limited range of motion of the right arm. At the age of 12, the patient received scar lysis and his symptoms improved. CONCLUSION: We presented the first case of scoliosis due to scar contracture caused by infection after CP shunt. In this case, timely release of scar tissue can effectively correct scoliosis and limb movement limitation.

Long-Term Outcomes of Biceps Rerouting for Flexible Supination Contractures in Children With Brachial Plexus Birth Injuries.

PURPOSE: Forearm supination contractures occur in 7% of children with brachial plexus birth injuries (BPBI). Biceps rerouting is proposed when pronation has deteriorated but is passively correctable to at least 0° (neutral). The purpose of this investigation was to evaluate long-term outcomes of biceps rerouting for this indication, including magnitude and maintenance of correction, complications, and subsequent osteotomy. METHODS: We conducted a retrospective review of all children with BPBI and forearm supination contractures treated with biceps rerouting alone, for the above indications, from 1993 to 2017 with at least 2 years follow-up. Demographic information, BPBI characteristics, surgical details, and ranges of motion were obtained from medical records. Pre- and postoperative active pronation (AP) and supination (AS), elbow flexion contracture, and arc of forearm rotation (Arc) were analyzed using linear mixed-effect models. RESULTS: Twenty-five children (13 females; 13 left forearms; 15 global BPBI) underwent biceps rerouting at age 7 ± 3 years and were followed for 6 ± 3 years. Before surgery, the mean AP and AS were 6° ± 29° and 62° ± 27°, respectively. At the final follow-up, the mean AP, AS, and Arc were 39° ± 36°, 18° ± 34°, and 57° ± 42°, respectively. AP was significantly improved and AS was significantly decreased by 2 years after surgery and at the final follow-up. Neither Arc nor elbow flexion contracture changed significantly. Two of 25 (8%) children underwent subsequent forearm osteotomy. CONCLUSIONS: Biceps rerouting in children with BPBI improves the forearm position when pronation is deteriorating by shifting the arc from supination to pronation without decreasing the arc of motion or worsening elbow flexion contractures. There is a low risk of complications and a limited need for subsequent forearm osteotomy. These results are maintained over time. When performed before passive pronation is reduced beyond neutral, this procedure may prevent severe supination contractures and reduce the need for forearm osteotomy. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Prevalence of knee contractures is high in children with cerebral palsy in Denmark.

INTRODUCTION: Cerebral palsy (CP) is a neurological disease occurring in children at early gestation, often resulting in pronounced functional limitations. A Swedish cross-sectional study (Cloodt, et al., 2018) discovered that 22% of children with CP had a knee contracture, which was associated with higher levels of Gross Motor Function Classification System (GMFCS), higher age, and higher levels of spasticity measured by the Modified Ashworth Scale (MAS). The current study investigated these associations in a Danish population. METHODS: This is a cross-sectional study including 1,163 children with CP aged 0-15 years, registered in the Danish National Cerebral Palsy Registry between 2017 and 2019. Prevalence of knee contracture was estimated, and logistic regression analysis was applied with results presented as odds ratio (OR) with 95% confidence intervals (CI). RESULTS: A total of 511 children with CP had knee contracture resulting in a prevalence of 44%. Age groups 4-6 years (OR: 1.73, CI: 1.19; 2.52), 7-9 years (OR: 1.85, CI: 1.29; 2.66) and 10-12 years (OR: 2.12, CI: 1.39; 3.24) were significantly associated with a higher prevalence of knee contractures compared to age group 0-3 years. Knee contractures were significantly more frequent at GMFCS levels IV (OR: 1.9, CI: 1.21; 2.97) and V (OR: 3.62, CI: 2.36; 5.55) compared to level I. Knee contractures were not associated with higher levels of MAS. CONCLUSIONS: Knee contractures are highly prevalent and significantly associated with high levels of GMFCS and increased age until 12 years, but not with high levels of spasticity in children with CP in Denmark.

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.

INTRODUCTION: Progressive osseous heteroplasia (POH) is a rare, debilitating disorder characterized by heterotopic ossification in the skin and muscles, resulting in contractures of the joints and progressive loss of function. While 60-70% of the POH patients have paternally inherited, inactivating pathogenic variants in GNAS, the remaining 30-40% have no known etiology. FAM111B pathogenic variants, located on chromosome 11q12.1, cause POIKTMP (hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis), a very rare, autosomal-dominant disorder with high frequency of de novo missense pathogenic variants, which affects multiple tissues and organs, causing extensive fibrosis and muscle adiposis, though the exact mechanism is unknown. To our knowledge, there are no reports of FAM111B associated with POH. We describe the first case of POH phenotype associated with a novel de novo frameshift pathogenic variant in the FAM111B and present an analysis of the protein structure and function caused by this genomic disruption. CASE: A 15-year-old African-American male presented with generalized calcific nodules, progressive contractures, and muscle weakness leading to immobility, beginning at 6 years of age. Cutaneous examination showed generalized hard nodules varying from small to plaque-like ulcerated erupted skin lesions. Biochemical evaluation revealed 25(OH) vitamin D insufficiency (20 ng/mL), and normal levels of parathyroid hormone, FGF-23, alkaline phosphatase, calcium, and phosphorus. Skeletal survey radiographs and computed tomography (CT) of the chest, abdomen, and pelvis showed extensive soft tissue and muscle heterotopic ossifications involving shoulders, axillae, trunk, abdomen, pelvis, upper and lower extremities, in a clumped, conglomerate distribution within muscle, subcutaneous fat, and in some areas extending to the skin. There was no pulmonary fibrosis on the chest CT. The clinical and radiographic findings were most consistent with POH. A trio-clinical exome sequencing revealed a de novo heterozygous likely pathogenic variant in the FAM111B (OMIM # 615584) (c.1462delT [p.Cys488Valfs*21]). The resulted frameshift change in exon 4 replaced C-terminal region with 21 alternative amino acids. Multiple, previously reported disease-associated variants appear to localize within the trypsin-like cysteine/serine peptidase domain in which this variant occurs, supporting the functional significance of this region, though none have been previously reported to be associated with POH phenotype. Our 3D protein modeling showed obliteration of predicted protein folding and structure, and elimination of the zinc-binding domain, likely severely affecting protein function. CONCLUSION: This is the first case of POH phenotype associated with a novel de novo pathogenic frameshift variant in FAM111B. Whether the frameshift change in FAM111B predicts POH remains unclear. Further evaluations are necessary to fully elucidate this finding and the potential role and mechanism by which the FAM111B variants contributes to POH phenotype.

Muscle cramps and contractures: causes and treatment.

Muscle cramps are painful, sudden, involuntary muscle contractions that are generally self-limiting. They are often part of the spectrum of normal human physiology and can be associated with a wide range of acquired and inherited causes. Cramps are only infrequently due to progressive systemic or neuromuscular diseases. Contractures can mimic cramps and are defined as shortenings of the muscle resulting in an inability of the muscle to relax normally, and are generally myogenic. General practitioners and neurologists frequently encounter patients with muscle cramps but more rarely those with contractures. The main questions for clinicians are: (1) Is this a muscle cramp, a contracture or a mimic? (2) Are the cramps exercise induced, idiopathic or symptomatic? (3) What is/are the presumed cause(s) of symptomatic muscle cramps or contractures? (4) What should be the diagnostic approach? and (5) How should we advise and treat patients with muscle cramps or contractures? We consider these questions and present a practical approach to muscle cramps and contractures, including their causes, pathophysiology and treatment options.