An experience with Foot Macrodactyly: A case report and review of literature

Macrodactyly is a rare congenital malformation with clinical manifestations such as enlargement of soft tissue and osseous elements. It causes various health issues such as pain, difficulty in wearing shoes, impairment in ambulatory ability and gait development, aesthetic problem, and psychological issues. The aetiology of macrodactyly is ambiguous; however, its association with PIK3CA /AKT1 genes has been reported recently. In the present study, a rare congenital macrodactyly of second and third toe of right foot along with deformed leg in 16-year-old girl has been reported. A progressive increase in the size of the second and third toe of the right foot and deformed reddish swollen area on the same lower leg below knee was seen in the patient. The malformation was present at the time of birth and at the age of one year the patient was operated for macrodactyly, but again the toe progressively increased to the previous size. She was presented with multiple health problems. There was no positive family history and/or other congenital malformation. Thus, it was suggested that due to variable phenotypic manifestations, appropriate treatment should be chosen for the patient individually.

Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids

Background: Duchenne Muscular Dystrophy (DMD) is a neuromuscular disorder that presents in childhood and is characterized by slowly progressive proximal weakness and lower extremity contractures that limit ambulatory ability [1, 2]. Contractures develop in the ankles, knees, and hips due to muscle imbalances, fibrotic changes, loss of strength, and static positioning [2, 5]. Currently, standards of care guidelines emphasize the importance of maintaining good musculoskeletal alignment through stretching, bracing, and glucocorticoid (GC) therapy to preserve strength and function. Methods: This is a retrospective analysis of prospectively collected data through the CINRG Duchenne Natural history study (DNHS). The objectives of this analysis are to understand the progression of ankle contractures for individuals with DMD and to investigate the relationship between progressive lower limb contractures, knee strength, and Timed Function Tests. A collection of TFTs including supine to stand (STS), 10 meter walk test (10MWT), and timed stair climbing (4SC) have been used to monitor disease progression and are predictive of loss of ambulation in these patients [4]. Multiple factors contribute to loss of ambulation, including progressive loss of strength and contracture development that leads to changing biomechanical demands for ambulation. A better understanding of the changes in strength and range of motion (ROM) that contribute to loss of function is important in a more individualized rehabilitation management plan. In this longitudinal study, we measured strength using quantitative muscle testing (QMT) with the CINRG Quantitative Measurement System (CQMS)), ROM was measuresed with a goniometer and TFTs were measured using a standard stopwatch and methodology. Results: We enrolled 440 participants; mean baseline age was 8.9 (2.1, 28.0) years with 1321 observations used for analysis. GC use was stratified based on duration on drug with 18.7%at < 6 months or naïve; 4.3%<1 year; 58.0%1 < 10 years; and 19.3%between 10-25 years of GC use. Ankle ROM was better for those on GC compared to GC naive but did not significantly influence long-term progression rates. QMT, ROM, age and GCs contribute to speed of TFTs. Knee extension (KE) strength and Dorsiflexion (DF) ROM are significant predictors of speed for all TFTs (p < 0.001). Of the variables used in this analysis, KE strength is the primary predictor of walking speed, estimating that every pound increase in KE results in a 0.042 m/s improvement in 10MWT, and a smaller similar increase of 0.009 m/s with every degree of ankle DF ROM. Conclusion: GC use provides an improvement in strength and ROM but does not affect rate of change. Knee strength has a greater influence on speed of TFTs than DF ROM, although both are statistically significant predictors of speed. Results show that retaining knee strength [1, 2], along with joint flexibility, may be important factors in the ability to perform walking, climbing and supine to stand activities.

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

Background Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopathy, and amyotrophic lateral sclerosis lead to incurable amyotrophy and consequent loss of ambulation. Thus far, no therapeutic approaches have been successful in recovering the ambulatory ability. Thus, the aim of this trial was to evaluate the efficacy and safety of cybernic treatment with a wearable cyborg Hybrid Assistive Limb (HAL, Lower Limb Type) in improving the ambulatory function in those patients. Results We conducted an open-label, randomised, controlled crossover trial to test HAL at nine hospitals between March 6, 2013 and August 8, 2014. Eligible patients were older than 18 years and had a diagnosis of neuromuscular disease as specified above. They were unable to walk for 10 m independently and had neither respiratory failure nor rapid deterioration in gait. The primary endpoint was the distance passed during a two-minute walk test (2MWT). The secondary endpoints were walking speed, cadence, and step length during the 10-m walk test (10MWT), muscle strength by manual muscle testing (MMT), and a series of functional measures. Adverse events and failures/problems/errors with HAL were also evaluated. Thirty patients were randomly assigned to groups A or B, with each group of 15 receiving both treatments in a crossover design. The efficacy of a 40-min walking program performed nine times was compared between HAL plus a hoist and a hoist only. The final analysis included 13 and 11 patients in groups A and B, respectively. Cybernic treatment with HAL resulted in a 10.066% significantly improved distance in 2MWT (95% confidence interval, 0.667–19.464; p = 0.0369) compared with the hoist only treatment. Among the secondary endpoints, the total scores of MMT and cadence at 10MWT were the only ones that showed significant improvement. The only adverse effects were slight to mild myalgia, back pain, and contact skin troubles, which were easily remedied. Conclusions HAL is a new treatment device for walking exercise, proven to be more effective than the conventional method in patients with incurable neuromuscular diseases. Trial registration: JMACTR, JMA-IIA00156

Effectiveness of community-based rehabilitation interventions incorporating outdoor mobility on ambulatory ability and falls-related self-efficacy after hip fracture: a systematic review and meta-analysis

Summary There is limited evidence from 11 randomised controlled trials on the effect of rehabilitation interventions which incorporate outdoor mobility on ambulatory ability and/or self-efficacy after hip fracture. Outdoor mobility should be central (not peripheral) to future intervention studies targeting improvements in ambulatory ability. Purpose Determine the extent to which outdoor mobility is incorporated into rehabilitation interventions after hip fracture. Synthesise the evidence for the effectiveness of these interventions on ambulatory ability and falls-related self-efficacy. Methods Systematic search of MEDLINE, Embase, PsychInfo, CINAHL, PEDro and OpenGrey for published and unpublished randomised controlled trials (RCTs) of community-based rehabilitation interventions incorporating outdoor mobility after hip fracture from database inception to January 2021. Exclusion of protocols, pilot/feasibility studies, secondary analyses of RCTs, nonrandomised and non-English language studies. Duplicate screening for eligibility, risk of bias, and data extraction sample. Random effects meta-analysis. Statistical heterogeneity with inconsistency-value (I2). Results RCTs (n = 11) provided limited detail on target or achieved outdoor mobility intervention components. There was conflicting evidence from 2 RCTs for the effect on outdoor walking ability at 1–3 months (risk difference 0.19; 95% confidence intervals (CI): 0.21, 0.58; I2 = 92%), no effect on walking endurance at intervention end (standardised mean difference 0.05; 95% CI: − 0.26, 0.35; I2 = 36%); and suggestive (CI crosses null) of a small effect on self-efficacy at 1–3 months (standardised mean difference 0.25; 95% CI: − 0.29, 0.78; I2 = 87%) compared with routine care/sham intervention. Conclusion It was not possible to attribute any benefit observed to an outdoor mobility intervention component due to poor reporting of target or achieved outdoor mobility and/or quality of the underlying evidence. Given the low proportion of patients recovering outdoor mobility after hip fracture, future research on interventions with outdoor mobility as a central component is warranted. Trial registration PROSPERO registration: CRD42021236541

Comparison of Follow-Up Length-Matched Single-Center Myelomeningocele Postnatal Closure Cohort to the Management of Myelomeningocele Study (MOMS) Trial Results

<b><i>Objective:</i></b> We sought to compare our large single-institution cohort of postnatal myelomeningocele closure to the 2 arms of the Management of Myelomeningocele Study (MOMS) trial at the designated trial time points, as well as assess outcomes at long-term follow-up among our postnatal cohort. <b><i>Methods:</i></b> A single-institutional retrospective review of myelomeningocele cases presenting from 1995 to 2015 at Children’s Hospital of Pittsburgh was performed. We compared outcomes at 12 and 30 months to both arms of the MOMS trial and compared our cohort’s outcomes at those designated time points to our long-term outcomes. Univariate statistical analysis was performed as appropriate. <b><i>Results:</i></b> One-hundred sixty-three patients were included in this study. All patients had at least 2-year follow-up, with a mean follow-up of 10 years (range 2–20 years). There was no difference in the overall distribution of anatomic level of defect. Compared to our cohort, the prenatal cohort had a higher rate of tethering at 12 months of age, 8 versus 1.8%. Conversely, the Chiari II decompression rate was higher in our cohort (10.4 vs. 1.0%). At 30 months, the prenatal cohort had a higher rate of independent ambulation, but our cohort demonstrated the highest rate of ambulation with or without assistive devices among the 3 groups. When comparing our cohort at these early time points to our long-term follow-up data, our cohort’s ambulatory function decreased from 84 to 66%, and the rate of detethering surgery increased almost 10-fold. <b><i>Conclusions:</i></b> This study demonstrated that overall ambulation and anatomic-functional level were significantly better among our large postnatal cohort, as well as having significantly fewer complications to both fetus and mother, when compared to the postnatal cohort of the MOMS trial. Our finding that ambulatory ability declined significantly with age in this patient population is worrisome for the long-term outcomes of the MOMS cohorts, especially given the high rates of cord tethering at early ages within the prenatal cohort. These findings suggest that the perceived benefits of prenatal closure over postnatal closure may not be as substantial as presented in the original trial, with the durability of results still remaining a concern.

Assessment of Multiple Sclerosis Disability Progression Using a Wearable Biosensor: A Pilot Study

Background: The evaluation of walking activity of people with multiple sclerosis (pwMS) is desirable. We evaluate the power of the correlation of motor parameters detected by the accelerometer in the Samsung Gear S2 smartwatch with multiple sclerosis (MS) disability measures and patient reported outcomes (PROs). Methods: We enrolled 25 relapsing remitting MS patients. We assessed disability with the expanded disability status scale, two-minute walking test (2MWT), timed 25-foot walk test (T25FWT), and nine-hole peg test. We collected PROs measuring fatigue, ambulatory ability, depression, quality of life, and bladder/bowel function. Participants were asked to wear the accelerometer for a period of 30 days. Results: The Spearman’s rank correlation coefficient showed a moderate negative correlation between the patient-determined disease steps (PDDS) score with the mean steps/day, a strong negative correlation between the PDDS score with the maximum number of daily steps (MNDS) and a moderate negative correlation between the fatigue severity scale score and MNDS. A moderate negative correlation between MNDS and the 2MWT and a moderate negative correlation between MNDS and the T25FW was found. Conclusion: Our results suggest that motor parameters derived from the accelerometer could be a reliable measure of motor disability in pwMS.

Treatment Outcomes in Spinal Metastatic Disease With Indeterminate Stability

Study Design: Retrospective cohort study. Objective: The purpose of this study was to compare outcomes between different treatment modalities for metastatic disease with indeterminate instability (Spinal Instability Neoplastic Score [SINS] 7-12). Methods: We retrospectively reviewed neurologically intact patients treated for spinal metastatic disease with a SINS of 7 to 12. The cohort was stratified by treatment approach: external beam radiation therapy alone (EBRT), surgery + EBRT (S+E), and cement augmentation + EBRT (K+E). Kaplan-Meier analysis was used to assess differences in length of survival (LOS) and ability to ambulate at time of death. Multivariate analysis was performed to assess adjusted LOS and ability to ambulate at time of death. Results: The cohort included 211 patients, S+E (n = 57), EBRT (n = 128), and K+E (n = 27). In the S+E group, the median LOS was 430 days, which was statistically longer than the median LOS for the EBRT group (121 days) and the K+E group (169 days). In the S+E group, 52 patients (91.2%) and in the K+E group 24 patients (92.3%) retained the ability to ambulate at their time of death compared to 99 patients (77.3%) of the EBRT patients ( P = .01). The overall rate of revision treatment at the spinal level initially treated was 17.5%, S+E (15.8%), EBRT (20.3%), and K+E (7.7%). Conclusions: The length of survival, ability to maintain ambulatory ability, and revision treatment rates were all improved following surgical management and radiation therapy compared to radiation therapy alone. The authors’ conclusion from these results are that patients with indeterminate spinal instability should be discussed in a multidisciplinary setting for the need of spinal stabilization in addition to radiation therapy.

Qualitative and Quantitative Analyses of Donor Site Morbidity Following a Graft of the Acellular Dermal Matrix Versus Primary Fascial Repair After ALT Flap Harvesting

Background: The anterolateral thigh (ALT) flap is one of the most useful flaps in reconstruction because of its reliability, large skin flap territory, and versatility. The relatively small number of side effects is a common reason for preferring this flap. Primary repair is usually performed at the donor site closure; however, this requires substantial tension and causes many donor site morbidities, including pain. We attempted to use acellular dermal matrix graft to overcome these problems. Methods: We analyzed a total of 41 cases (41 flaps) in this study. Among these flaps, we conducted donor fascia suture with artificial dermis in 20 cases (study group) and primary fascial suture in 21cases (control group). Post-operative ambulation recovery times, pain scores, drainage removals, and wound problems of the donor site were recorded. Results: There were no serious complications, including infection, at the donor sites of all 41 cases. Of 20 cases using the acellular dermal matrix, seroma occurred in 2 cases and partial skin necrosis occurred in 2 cases. In 1 case of skin necrosis, the acellular dermal matrix was removed. However, in comparison to the control group, the group using the artificial dermis recovered ambulatory ability 3.9 days earlier and had a 1.8-point lower visual analogue scale score 5 days post-operatively. Conclusions: Our study suggested that, if used selectively, the acellular dermal matrix may play an effective role in donor site closure in cases with procedures involving the ALT flap.

Association of Serum Vitamin D and Calcium Levels With the Severity of Intertrochanteric Fractures in the Elderly: A Retrospective Study

Background: Femur intertrochanteric fractures can be classified into stable and unstable fractures according to their severity. Postoperative complications and mortality were more common in patients with unstable intertrochanteric fractures. However, there has been little effort to evaluate the risk factors of the two fracture types. This study aimed to identify the possible differences in demographic and clinical characteristics of older patients with different types of intertrochanteric fractures.Methods: The medical records of patients aged ≥60 years who presented with intertrochanteric fractures from June 2018 to March 2020 were retrospectively reviewed. Fifty-seven patients were enrolled and divided into two groups according to severity: stable (21 patients) and unstable (36 patients). Demographic data, body mass index (BMI), ambulatory ability prior to fracture, pre-fracture residence, season at fracture, bone mineral density (BMD), and serum 25-hydroxyvitamin D [25(OH)D], osteocalcin, and calcium levels were compared between the two groups. Additionally, we analyzed the correlation among variables.Results: The stable group had significantly higher serum 25(OH)D and calcium levels than the unstable group (p = 0.010, p = 0.019). There were no statistically significant differences (p > 0.05) in age, sex, height, weight, BMI, ambulatory ability prior to fracture, pre-fracture residence, season at fracture, BMD, and serum osteocalcin level between the two groups. In addition, serum 25(OH)D and calcium levels were not correlated with any of the variables in all patients.Conclusion: Low vitamin D and calcium levels are associated with unstable intertrochanteric fracture in elderly patients. Maintaining adequate vitamin D and calcium levels could avoid an increase in the severity of intertrochanteric fractures.