Distal Lower Limb Research Articles

Guillain-Barrè Syndrome-Retrospective Analysis of Data from a Cohort of Patients Referred to a Tertiary Care Pediatric Neuromuscular Center from 2000 to 2017: Electrophysiological Findings, Outcomes, and a Brief Literature Review.

Background and Objectives: Guillain-Barré syndrome (GBS) is the most frequent cause of acute flaccid paresis in children. The aim of this study was to describe the clinical and electrophysiological findings and outcomes of children with GBS diagnosed in our unit. Moreover, the literature on pediatric GBS cases from the past 5 years was reviewed. In this retrospective study, we reported data on 12 patients (9 male and 3 female patients; mean age: 5 y, 4 mo; range: 9 mo-11 y) clinically diagnosed at the Child Neurology Unit of the AUSL-IRCCS of Reggio Emilia, Italy, between 2000 and 2017 and a brief analysis/comparison with data from the literature. Materials and Methods: Data were collected from medical charts. Results: In our cohort, male patients were more frequent than female ones (9 vs. 3), and upper respiratory tract infection (n = 8, 66.7%) was the most frequent triggering factor. The main clinical symptoms on admission were distal lower limbs' weakness with gait difficulties (83.3%), pain (50%), upper limbs' weakness (50%), and dysphagia for liquids (25%). Peripheral neurophysiological studies revealed acute inflammatory demyelinating polyradiculoneuropathy (AIDP) in 66.6% of the children, acute motor and sensory axonal neuropathy (AMSAN) in 25%, and acute motor axonal neuropathy (AMAN) in 8.3%. Ten individuals (83.3%) received timely treatment with intravenous immunoglobulins (IVIG), and, out of these ten patients, 58% received concomitant treatment with IV methylprednisolone because of a progressive disease course. Complete remission was observed in the majority of individuals (91.6%) within 6 months of symptom onset. Conclusions: Different subtypes of GBS can affect children; however, the outcome is usually positive. Early treatment appears to be important for a favorable outcome.

Incomplete Fractures of Distal Long Bones Among Children in Early Stages of Mobility: Few Concerns for Physical Child Abuse at a Single Pediatric Level I Trauma Center.

This study aimed to describe the characteristics, reported mechanism of injury, fracture morphology, and level of physical abuse concern among children in the early stages of mobility diagnosed with an incomplete distal extremity long bone fracture. A retrospective chart review was performed for all children aged 10 to 12 months with an incomplete fracture of a distal forearm or distal lower limb who were reportedly pulling up, cruising, or ambulating, and who were evaluated by the child abuse pediatrics team at a single pediatric level I trauma center. Of the 29 patients who met inclusion criteria, the child abuse pediatrics team had concerns about physical child abuse for 3 children. Not every case with an unknown or discrepant history of injury was deemed concerning for abuse, but all 3 for whom the team determined that concern was warranted had an unknown or discrepant history. All 3 of these children had distal forearm fractures; 1 child had multiple concomitant fractures (including a scapular fracture), and 2 had evidence of bone healing at initial presentation. Each of these observations raises concern for abusive injury based on current evidence. Both-bone buckle fractures of the radius/ulna and tibia/fibula were the most common type of incomplete distal fracture. This age group presents a unique challenge when designing evidence-based algorithms for the detection of occult injuries in emergency departments. Incomplete fractures of a distal limb are commonly related to a fall and may be considered "low specificity" for physical abuse. However, some publications conclude they should prompt universal physical abuse screening. Our small study indicated that the presence or absence of certain risk factors may provide additional information which could help guide the need for a more thorough evaluation for occult injury in early-mobile children with incomplete distal extremity long bone fractures. Ongoing research is warranted.

AI-Based Automated Lipomatous Tumor Segmentation in MR Images: Ensemble Solution to Heterogeneous Data

Deep learning (DL) has been proposed to automate image segmentation and provide accuracy, consistency, and efficiency. Accurate segmentation of lipomatous tumors (LTs) is critical for correct tumor radiomics analysis and localization. The major challenge of this task is data heterogeneity, including tumor morphological characteristics and multicenter scanning protocols. To mitigate the issue, we aimed to develop a DL-based Super Learner (SL) ensemble framework with different data correction and normalization methods. Pathologically proven LTs on pre-operative T1-weighted/proton-density MR images of 185 patients were manually segmented. The LTs were categorized by tumor locations as distal upper limb (DUL), distal lower limb (DLL), proximal upper limb (PUL), proximal lower limb (PLL), or Trunk (T) and grouped by 80%/9%/11% for training, validation and testing. Six configurations of correction/normalization were applied to data for fivefold-cross-validation trainings, resulting in 30 base learners (BLs). A SL was obtained from the BLs by optimizing SL weights. The performance was evaluated by dice-similarity-coefficient (DSC), sensitivity, specificity, and Hausdorff distance (HD95). For predictions of the BLs, the average DSC, sensitivity, and specificity from the testing data were 0.72 pm 0.16, 0.73 pm 0.168, and 0.99 pm 0.012, respectively, while for SL predictions were 0.80 pm 0.184, 0.78 pm 0.193, and 1.00 pm 0.010. The average HD95 of the BLs were 11.5 (DUL), 23.2 (DLL), 25.9 (PUL), 32.1 (PLL), and 47.9 (T) mm, whereas of SL were 1.7, 8.4, 15.9, 2.2, and 36.6 mm, respectively. The proposed method could improve the segmentation accuracy and mitigate the performance instability and data heterogeneity aiding the differential diagnosis of LTs in real clinical situations.

Acute effects of neuromuscular electrical stimulation on contralateral plantar flexor neuromuscular function

Introduction
 Neuromuscular electrical stimulation (NMES) is used in athletes to enhance muscle strength (Filipovic et al., 2012) or in patients to restore muscle strength (Nussbaum et al., 2017). The increased maximal voluntary contraction (MVC) torque of one limb (e.g. right leg) while transcutaneous NMES is concomitantly applied to the contralateral limb (e.g. left leg) has been termed contralateral facilitation. This effect has previously been reported for the knee extensors (Cattagni et al., 2018; Minetto et al., 2018) but the underlying mechanisms remain to be investigated. It is also not known whether or not other muscle groups may show contralateral facilitation.
 The aim of this study was to compare plantar flexor contralateral facilitation between a submaximal voluntary contraction (~10% MVC torque) and two evoked contractions with presumably distinct motor unit recruitment patterns (conventional and wide-pulse high-frequency [WPHF] NMES; Bergquist et al., 2011) of the ipsilateral plantar flexors, with respect to a resting condition.
 Methods
 Twenty-two healthy volunteers (4 women: mean ± SD, 26 ±4 yrs, 162 ±7 cm, 65 ±9 kg and 18 men: 26 ±6 yrs, 180 ±5 cm, 76 ±6 kg) took part to the experiments. Contralateral MVC torque and maximal voluntary activation level were measured in 4 different conditions: while the ipsilateral plantar flexors were at rest, voluntarily contracted at 10% of MVC torque or stimulated with conventional (0.1 ms, 30 Hz) and wide-pulse high frequency (1 ms, 100 Hz) NMES for 15 s at a pre-determined intensity to evoke 10% of MVC torque. Additional neurophysiological parameters (soleus H-reflex and V-wave amplitude and tibialis anterior coactivation level) were quantified in a subgroup of 12 participants (4 women and 8 men).
 Results
 Conventional and WPHF NMES of the ipsilateral plantar flexors did not induce any contralateral facilitation of MVC torque with respect to the resting condition (respectively: mean ± SD, 133 ±44, 133 ±43 and 135 ±39 Nm) as well as maximal voluntary activation level, while an ipsilateral voluntary contraction of the same intensity resulted in lower contralateral strength than conventional NMES. Moreover, no alteration in the neurophysiological parameters was observed in the different conditions.
 Discussion/Conclusion
 The absence of contralateral facilitation contrasts with the results obtained on the knee extensors and can be attributed to the absence of neural changes observed on the contralateral side. These findings should be considered by clinicians/researchers in lower limb rehabilitation settings, as it seems easier to induce contralateral facilitation in proximal vs. distal lower limbs.
 References
 Bergquist, A. J., Clair, J. M., Lagerquist, O., Mang, C. S., Okuma, Y., & Collins, D. F. (2011). Neuromuscular electrical stimulation: Implications of the electrically evoked sensory volley. European Journal of Applied Physiology, 111, 2409–2426. https://doi.org/10.1007/s00421-011-2087-9
 Cattagni, T., Lepers, R., & Maffiuletti, N. A. (2018). Effects of neuromuscular electrical stimulation on contralateral quadriceps function. Journal of Electromyography and Kinesiology, 38, 111-118. https://doi.org/10.1016/j.jelekin.2017.11.013
 Filipovic, A., Kleinöder, H., Dörmann, U., & Mester, J. (2012). Electromyostimulation: A systematic review of the effects of different electromyostimulation methods on selected strength parameters in trained and elite athletes. Journal of Strength and Conditioning Research, 26(9), 2600-2614. https://doi.org/10.1519/JSC.0b013e31823f2cd1
 Minetto, M., Botter, A., Gamerro, G., Varvello, I., Massazza, G., Bellomo, R., Maffiuletti, N., & Saggini, R. (2018). Contralateral effect of short-duration unilateral neuromuscular electrical stimulation and focal vibration in healthy subjects. European Journal of Physical and Rehabilitation Medicine, 54(6), 911-920.
 Nussbaum, E., Houghton, P., Anthony, J., Rennie, S., Shay, B., & Hoens, A. (2017). Neuromuscular electrical stimulation for treatment of muscle impairment: Critical review and recommendations for clinical practice. Physiotherapy Canada, 69(5), 1-76. https://doi.org/10.3138/ptc.2015-88

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.

Tibial muscular dystrophy (TMD) is a dominant late onset distal titinopathy. It was first described in Finnish patients 3 decades ago. TMD patients with several other TTN mutations occur in many European populations. In this retrospective study, we were able to obtain longitudinal follow-up data of the disease progression over 15 years in 137 TMD patients. We retrieved clinical data retrospectively from three examinations spanning a period of 15 years. The data were analyzed in R. Frequencies, percentages, and median values were used to describe data. Probability values were determined with the chi-squared test. In the cohort, the first symptoms were walking difficulties (97.8%) and weakness in distal lower limbs (98.5%). The progression of the weakness in distal lower limbs was moderate, and in the proximal lower limbs and proximal upper limbs it was mild. The distal upper limbs were not affected. Magnetic resonance imaging results indicated fatty degeneration preferentially in lower leg anterior muscles, gluteus minimus, and hamstring muscles. Serum creatine kinase values in the cohort were mostly normal (40.7%) or mildly elevated (53.7%). The data suggest that 50% of patients need walking aids by the age of 88 years. Despite individual variability of severity, the overall disability due to walking difficulties and upper limb weakness remained moderate even at very advanced ages, and cardiomyopathy did not develop due to the titin defect alone. The acquired results promote the correct identification of TMD, and the obtained trajectories of disease evolution can be used as natural history data for any therapeutic intervention.

Challenges Faced in the Surgical Fixation of a 4 Part Inter-Trochanteric Fracture in a Patient with Ipsilateral Below Knee Amputation and Uncontrolled Diabetes Mellitus

Operative treatment of hip fractures in a patient with below-knee amputation on the same extremity poses a great challenge in terms of obtaining an optimal amount of traction for fracture reduction. The absence of the foot and the distal lower limb which makes the positioning difficult and other medical co-morbidities contribute to the same. We present a case report of a 66-year-old man with ipsilateral below-knee amputation who underwent surgical fixation of a comminuted 4-part right intertrochanteric femur fracture. We discuss the pros and cons of various methods and highlight a simple and effective technique of reverse boot traction for fracture reduction. Keywords: Inter trochanteric fracture, 4-part fracture, amputation, diabetes mellitus, reverse boot.

A novel approach to alpha-lipoic acid therapy in the treatment of diabetic peripheral neuropathy

Diabetic peripheral neuropathy (DPN) is a heterogenic disorder prevalent amongst patients suffering from diabetes mellitus (DM), with symptoms comprising neuropathic pain, paresthesia, and numbness in distal lower limbs. Alpha-lipoic acid (ALA) is proposed as a pathogenesis-oriented treatment option, targeting underlying causes of neural lesions such as hyperglycemia, metabolic and microvascular dysfunctions, and cellular oxidative stress. We performed a comprehensive review of controlled clinical trials demonstrating the clinical usefulness of ALA in the treatment of DPN, published in the last 5 years to determine the benefits of ALA monotherapy and combined treatments with other known antioxidants. We also investigated the differential efficacy of oral versus intravenous ALA administration. Clinical trials show the efficacy of ALA treatment, attributed to its anti-inflammatory, anti-hyperglycemic, and antioxidant properties, as well as its function in the endothelial activation and lipid metabolism parameters. ALA supplementation is associated with amelioration in nerve conduction velocity scores, clinically significant reduction of reported neuropathic pain, burning and paresthesia, as well as a decrease in serum triglycerides, improved insulin sensitivity, and quality of life.

Impact of self-coiling catheters for continuous popliteal sciatic block on postoperative pain level and dislocation rate: a randomized controlled trial

BackgroundDislocation of catheters within the tissue is a challenge in continuous regional anesthesia. A novel self-coiling catheter design is available and has demonstrated a lower dislocation rate in a cadaver model. The dislocation rate and effect on postoperative pain of these catheters in vivo has yet to be determined and were the subjects of this investigation.MethodsAfter ethics committee approval 140 patients undergoing elective distal lower limb surgery were enrolled in this prospective randomized controlled trial. Preoperatively, patients were randomly assigned and received either the conventional (n = 70) or self-coiling catheter (n = 70) for ultrasound-guided popliteal sciatic nerve block in short axis view and by the in-plane approach from lateral to medial. The primary outcome was pain intensity after surgery and on the following three postoperative days. Secondary outcomes investigated were dislocation rate in situ determined by sonography, catheter movement visible from outside, opioid consumption as well as leakage at the puncture site.ResultsAll catheters were successfully inserted. The study population of self-coiling catheters had significantly lower mean numeric rating scale values than the reference cohort on the first (p = 0.01) and second postoperative days (p < 0.01). Sonographic evaluation demonstrated, 42 standard catheters (60%) and 10 self-coiling catheters (14.3%) were dislocated in situ within the first three postoperative days. The externally visible movement of the catheters at insertion site did not differ significantly between groups through the third postoperative day. The opioid consumption was significantly lower in the self-coiling catheter group on the day of surgery and on the second and third postoperative days (p = 0.04, p = 0.03 and p = 0.04, respectively).ConclusionThe self-coiling catheter offers a better postoperative pain control and a lower dislocation rate within the tissue when blocking the popliteal sciatic nerve compared to a conventional catheter. Further trials in large patient cohorts are warranted to investigate the potential beneficial effects of self-coiling catheters for other localisations and other application techniques.Trial registrationThe trial was registered at German Clinical Trials Register (DRKS) on 08/04/2020 (DRKS00020938, retrospectively registered).

Development of a Risk Score to Predict Peripherally Inserted Central Catheter Thrombosis in Active Cancer

BackgroundPeripherally inserted central catheters (PICCs) are commonly used in cancer patients. PICC-associated upper limb venous thromboembolism (PaULVTE, non-deep and deep involving veins proximal to the brachial vein) and distant VTE (i.e. pulmonary embolism [PE], lower limb deep vein thrombosis [DVT]) prevention is important due to the bleeding risk from subsequent anticoagulation.The Khorana risk score (KRS) is used to predict VTE in malignancies, has been externally validated and prospectively utilized in VTE prophylaxis studies in cancer patients. It utilizes routinely available variables: cancer type, prechemotherapy platelet count, hemoglobin, leukocyte count and body mass index (BMI) to stratify patients into three risk groups. However, the KRS was not designed to predict PaULVTE so its utility in this context is unknown. A specific PaULVTE risk model is the Michigan Risk Score (MRS) which assesses concurrent central catheter at time of PICC insertion, leukocyte count at insertion, PICC lumen number, antecedent VTE (DVT or PE) and active cancer (the latter confers a score of 3). The MRS has not been externally validated and is not specifically designed for cancer patients which comprised 6.2% of their derivation cohort.ObjectivesTo measure the discriminative ability for PaULVTE of the KRS and MRS and the corresponding prevalence of PaULVTE in patients with active cancer in various KRS and MRS strata. To modify the KRS and MRS, to improve discriminative accuracy for PaULVTE.MethodsWe retrospectively reviewed consecutive patients with malignancies, who received chemotherapy through a PICC between April 2017 to July 2018. Exclusion criteria for cancer cases included PICC insertion for other reasons such as supportive care. We did not exclude patients on prophylactic or therapeutic anticoagulation or those with a history of PaULVTE.The outcome measures included objectively confirmed PaULVTE incidence whilst the PICC remained in place or within 30 days post removal, treatment and to assess the prevalence of PaULVTE according to KRS and MRS categories in patients with active cancer. For cancer patients, KRS and MRS were calculated based on clinical and laboratory values at PICC insertion. We also assessed whether combining components of both scores would yield improved discriminative ability. Furthermore, we recorded symptomatic, radiologically confirmed distant VTE (i.e. PE, DVT in the proximal or distal lower limb) if this occurred whilst the PICC was in situ or up to 30 days post removal.ResultsAmong 147 cancer patients, median age 64 years, PICC duration 70 days (range, 2-452), 7% developed PaULVTE (95%CI 3.6-12.2) and 4%(95%CI 2-9) distant VTE. Of KRS<1, 22% had no PaULVTE (95%CI 0-11) compared to 9% (95%CI 5-16) in KRS≥1(n=111), p=0.12. Patients with MRS<5 and MRS≥5 developed (95%CI 2-11) and 21% (95%CI 7-48) PaULVTE respectively, p=0.002 and accounted for 83% and 17% of patients respectively. The c-statistic for KRS was 0.6 (95%CI 0.44-0.75) whilst MRS was 0.63 (95%CI 0.44-0.82). The addition of thrombocytosis, a variable from KRS, to MRS (modified MRS, mMRS) improved discriminative value (mMRS 0.72 [95%CI 0.58-0.85]) more than BMI≥35kg/m 2 (0.67 [95%CI 0.49-0.85)] (Figure 1). mMRS3 (lowest score) occurred in 47% with 1.4% (95%CI 0-8.3) PaULVTE compared to 11.8% (95%CI 6.1-21.2) in mMRS>3, p=0.01 (Figure 2). The addition of lumen number from MRS to KRS did not improve the area under the curve (0.6 [95%CI 0.44-0.82]).ConclusionPaULVTE risk is high in active cancer (7%). The MRS dichotomized at a score of above or less than 5 showed moderate discriminative ability for PaULVTE. With simple modification of the MRS with the addition of thrombocytosis (mMRS), a score of 3 had a low rate of PaULVTE (1.4%) and accounted for 47% of patients. mMRS>3 comprised 53% of the cohort and had a statically higher rate of PaULVTE 11.8%.More patients were accurately classified as low PaULVTE risk using mMRS3 compared to KRS<1 (47% versus 22%) but both have low rates of PaULVTE. Prospective validation of mMRS would be invaluable to determine which patients are at high risk of PaULVTE and may benefit from prophylaxis. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Characterization of A Rare Case of Vulvar Epithelioid Sarcoma with local recurrence and metastases

Abstract Introduction/Objective Epithelioid sarcoma (ES) is a rare, malignant mesenchymal neoplasm that has a known tendency for local recurrence, regional lymph node involvement, and distant metastases. Two histologic variants have been recognized: classic ES also known as the distal type, and proximal-type ES (PES). The classic ES is common in young adults. It occurs more frequently in the distal upper extremities followed by the distal lower limbs and has a male prevalence of 2:1. Conversely, PES commonly involves deep tissues in the pelvic region, including the genital area. It tends to occur in older patients and follows a more aggressive clinical course. In the female genital tract, PES occurs most frequently in the vulva. The incidence of primary sarcoma of the vulva accounts for 1.5-5% of all malignant tumors, making PES a very rare incidence. Methods/Case Report Here we report a 60-year-old female diagnosed with vulvar epithelioid sarcoma treated with a right radical vulvectomy and bilateral inguinal lymph node dissection in 2008. In 2017, further surgery and adjuvant radiation were given for local recurrence. In 2020, the patient developed left hip pain and was found to have an expansile lytic lesion in the left proximal femur. Extensive resection was performed. Grossly the vulvar lesion was nodular with diffuse hemorrhage, degeneration, and necrosis. Microscopically, the tumor cells had large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. Histologically, the morphology of the tumor cells are similar for the primary vulvar specimen and the bone metastases. Immunohistochemically, the tumor cells are positive for vimentin, GATA, FLI-1, SMA, SMHC, partially positive for CAM5.2, AE1/AE3, CD31, and CD163. Immunohistochemistry was negative for CDX2, CD56, S-100, TTF-1, CK5/6, CK20, P40, mammoglobin, MOC31, ER, CK7, CK903, HMB45, PAX8. A Ki-67 proliferative index was around 30-40%. NGS molecular testing detected a SMARCB1 mutation with loss of exons 1-3 and exons 7-9 supporting the diagnosis of epithelioid sarcoma. Results (if a Case Study enter NA) NA Conclusion In summary, we report a case of PES of the vulva in a 60 year old female. Grossly, the lesion was nodular with histology showing large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It showed loss of INI1/SMARCB1 nuclear expression. The patient is receiving further adjuvant treatment and shows no new metastases.

P01 Catastrophic antiphospholipid syndrome presenting as diffuse peripheral and central thromboses

P01 Catastrophic antiphospholipid syndrome presenting as diffuse peripheral and central thromboses

26481 Sensory mononeuritis multiplex: A rare sequela of leukocytoclastic vasculitis

A 36-year-old gentleman presented to our dermatology service with a 1-month history of a burning, purpuric rash affecting both lower limbs. He was otherwise fit and well with no other symptoms. On examination, there was a tender, purpuric, and petechial rash present on both distal lower limbs. A biopsy revealed a leukocytoclastic vasculitis with no IgA deposits on direct immunofluorescence. A serum vasculitic screen was negative. The patient’s symptoms improved with the application of a potent topical corticosteroid.

THE CHALLENGING DIAGNOSIS OF DYSFERLINOPATHY – A CASE REPORT

Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype. We report a case of dysferlinopathy and discuss relevant clinical, pathological and genetic data. Material and methods. We present the case of a 36 years old man with more than ten years history of progressive muscle weakness and atrophies in the distal lower limbs. He had a first clinical evaluation at the age of 24 years and a muscle biopsy was performed but it was inconclusive. On current admission, he presented with clinical suspicion of Charcot-Marie-Tooth disease, but because of increased serum creatine kinase levels and EMG (electromyography) findings of myopathy, another muscle biopsy was recommended. The muscle tissue obtained was analysed by histopathology, immunohistochemistry, and Western blot techniques, and also a genetic confirmation was recommended. Results. Based on morphological findings, electrodiagnostic study results and clinical context, the diagnosis of primary dysferlinopathy was established, supported by genetic data. Conclusions. The diagnosis may be challenging in these rare genetic myopathies, due to the high variability of phenotypes, ranging from asymptomatic hyperCKemia (high serum creatine kinase level) to a severe clinical picture with loss of ambulation. Repeated evaluation, increasing access to genetic testing and a multidisciplinary approach made an accurate diagnosis possible in our case.

Thr124Met myelin protein zero mutation mimicking motor neuron disease

Mutations in myelin protein zero (MPZ) are associated with heterogeneous manifestations. In this study, we report clinical, electrophysiological, pathological, and muscle MRI findings from two relatives with MPZ Thr124Met variants, disclosing different phenotypes. The proband was a 73-year-old female with a 12-year-story of atrophy, weakness, and fasciculations in her proximal and distal lower limbs. EMG examination showed neurogenic signs with active denervation together with reduced sensory action potentials, without sensory symptoms. The initial diagnosis was of a slowly progressive lower motor neuron disease (MND) with subclinical sensory axonal neuropathy. Two years later, the observation of her 60-year-old nephew, who had a distal sensory-motor neuropathy, prompted the analysis of inherited neuropathies-related genes and revealed a MPZ Thr124Met mutation in both cases. Our findings expand the clinical spectrum of MPZ-related neuropathy and highlight that Thr124Met mutation may cause a syndrome mimicking MND. The challenging issue to detect sensory features in the diagnostic MND work up is discussed.

Lower limb reconstruction involving osteosynthesis material: A retrospective study on propeller flaps outcomes

IntroductionReconstruction of soft tissue defects in lower limb fractures requiring internal fixation remains a challenging scenario with the optimal surgical treatment still debated. This study aims to recommend, and eventually redefine, surgical indications for propeller flaps reconstruction in the distal lower limb, with a particular focus on the presence or not of metalwork. MethodsA retrospective study of lower limb soft tissue reconstructions performed between January 2015 and July 2018 was carried out including all patients treated with a propeller perforator flap (PPF) with at least 6-month follow-up. Patients were further divided in 2 groups depending on the presence of metalwork fixation beneath the flap (F group, propeller on Framework; NF group, propeller with No-Framework). Results21 patients were retained (F group, 11 patients; NF group, 10 patients). There were no significant differences between the two groups in age, BMI, ASA scores, comorbidities or defect size. There was a statistically significant difference between the groups (p<0.05) in the cumulative hospital stay with a mean cumulative hospital stay of 22 ± 9 days in the F group and 12 ± 8 days in NF group. Failures were higher where PPF were used to cover hardware material, with 3 patients requiring a major secondary procedure in F group versus 1 patient in NF group. ConclusionThe presence of underlying metalwork significantly reduced the margin for small, day-case revision procedures such as flap readvancement or STSG. This study emphasizes clinical intuition that whilst PPF are a useful and elegant tool in lower limb reconstruction, their use should be limited when underlying metalwork is present.

Cytopathology of myxoinflammatory fibroblastic sarcoma: a series of eight cases and review of the literature

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare low-grade sarcoma presenting as a slow-growing mass that occurs mainly in the distal extremities of adults. Relatively little is known about the cytopathology of MIFS. We evaluated cytologic characteristics of MIFS on fine-needle aspiration (FNA). A search was made of our cytopathology and surgical pathology databases for cases diagnosed as MIFS. FNA biopsy smears and cell-block were performed and examined using standard technique. Eight cases were retrieved from patients aged 22-90 years (mean, 56 years), and M:F ratio of 1:1. Six tumors (75%) were primary, and 2 (25%) locally recurrent. Distal lower limb was involved in all but one case (88%). One (13%) recurrent case was correctly diagnosed cytologically as MIFS; remaining single diagnoses were varied: myxofibrosarcoma, low-grade sarcoma, malignant neoplasm, myxoid neoplasm, atypical fibrohistiocytic neoplasm, atypical cells with chronic inflammation, and spindle cells with atypia. Among 7 cases with available cytologic slides for review, common features were spindle cells with variable atypia (100%), rare virocyte/Reed-Sternberg -like cells (86%), background mixed inflammation (71%), and variable myxoid stroma (57%). Pseudolipoblasts and multinucleated giant cells were rare. Hemosiderin and branching capillaries were largely absent. Immunohistochemistry was non-specific. MIFS was accurately interpreted in only 13% of cases; remaining cases were diagnosed as atypical or malignant, which would lead to proper management. A specific cytologic diagnosis of MIFS using FNA is extremely difficult in our experience due to an absence of distinctive cytomorphology and specific immunophenotype.

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect. Peripheral neuropathy remains a classical but underdiagnosed complication of cblC defect, especially in late-onset cblC disease caused by mutations in the methylmalonic aciduria type C and homocysteinemia (MMACHC) gene. So the clinical, electrophysiological, and pathological characteristics of late-onset cblC disease are not well-known.Methods: A retrospective study of patients with late-onset cblC disease was conducted at our hospital on a 3-year period. The neuropathy was confirmed by the nerve conduction study. Sural biopsies were performed in 2 patients.Results: Eight patients were identified, with a mean onset age of 16.25 ± 6.07 years. All patients had methylmalonic aciduria, homocysteinemia, compound heterozygous MMACHC gene mutations were detected in all patients, and 7/8 patients with c.482G>A mutation. One patient concomitant with homozygote c.665C>T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. All patients showed limb weakness and cognitive impairment. Five patients had possible sensorimotor axonal polyneuropathy predominantly in the distal lower limbs. Sural biopsies showed loss of myelinated and unmyelinated fibers. Electro microscopy revealed crystalline-like inclusions bodies in Schwann cells and axonal degeneration.Conclusion: Late-onset cblC disease had possible heterogeneous group of distal axonal neuropathy. c.482G>A mutation is a hot spot mutation in late-onset cblC disease.

Current concepts in the management of diabetic polyneuropathy.

Diabetic sensorimotor polyneuropathy (DSPN) is encountered in approximately one‐third of people with diabetes. This, in turn, might markedly impoverish their quality of life, mainly owing to neuropathic pain and foot ulcerations. Painful DSPN might be as frequent as 25% in diabetes patients. Symptoms as a result of DSPN typically comprise pain, paresthesia and numbness in the distal lower limbs. Asymptomatic DSPN might reach 50% among patients with this condition. Unfortunately, DSPN is still not adequately diagnosed and treated. Its management has three priorities: (i) lifestyle improvement, near‐normoglycemia and multifactorial cardiovascular risk intervention; (ii) pathogenesis‐oriented pharmacotherapy; and (iii) symptomatic alleviation of pain. Intensive diabetes therapy showed evidence for favorable effects on the incidence and deterioration of DSPN in type 1 diabetes, but not type 2 diabetes. Among pathogenesis‐oriented treatments, α‐lipoic acid, actovegin, benfotiamine and epalrestat are currently authorized to treat DSPN in several countries. Symptomatic therapy uses analgesics, notably antidepressants, opioids and anticonvulsants, reducing pain by ≥50% in approximately 50% of individuals, but might be limited, particularly by central nervous system‐related adverse events. Local treatment with the capsaicin 8% patch might offer an alternative. In addition to pain relief, therapy should improve sleep, mobility and quality of life. In conclusion, multimodal treatment of DSPN should consider the individual risk profile, pathogenetic treatment and pain management using pharmacotherapy (combinations, if required), as well as non‐pharmacological options.

Osteoid Osteoma in Talus: Our Experience in Radioguided Surgery

The osteoid osteoma (OO) is the third most frequent benign bone tumor, whose location is more frequent in long bones of lower limbs. Its presence in the distal lower limb is uncommon, with the talus the most common reported location. Surgical treatments with radioguided surgery of OO of foot and ankle in our hospital were reviewed. We present a retrospective cohort study of 4 patients with clinical and radiologic findings suspicious OO with at least 1 year of follow-up. We used radioguided surgery for surgical resection after the injection of a dose of 99mTc-hydroxydiphosphonate. The nidus was located with the help of a portable gamma camera and gamma detection probe, concluding the surgical resection when its activity decreased to the levels present in healthy tissues. Samples were sent for pathologic anatomy for further examination. Lesions were localized in all patients. The cure rate, based on the absence of relapse of symptoms, was 100%. On the basis of our experience and on the available literature, we suggest that radioguided surgery is an effective and safe method for the treatment of OO in the foot and ankle. Although radiofrequency ablation is the first choice treatment for OO, radioguided surgery offers a number of advantages: an accurate delimitation of the nidus, allowing a more precise excision of the lesion; a decrease in postoperative complications; and the possibility of confirmation in histopathologic studies. Because of the small number of cases, a multicenter study could be useful to increase the number of cases and therefore provide more evidence to this type of treatment. Level of Evidence: Level V. See Instructions for Authors for a complete description of levels of evidence.

P3848Baseline profile of patients treated for acute venous thromboembolism (VTE) in routine clinical practice according to VTE location in the RE-COVERY DVT/PE global cohort study

Abstract Background In contrast to randomized clinical trials, observational studies provide the opportunity to evaluate routine practice in real-world patient populations. Purpose Using data from the RE-COVERY DVT/PE global observational study (enrollment January 2016 to May 2017), we have explored patient characteristics and anticoagulant treatment patterns in subgroups defined according to the type and location (proximal or distal lower limb) of acute venous thromboembolism (VTE). Methods Baseline patient characteristics, details of hospitalization and choice of anticoagulant therapy were tabulated descriptively for three groups of patients according to the type and location of their index VTE: pulmonary embolism (PE) (± any deep vein thrombosis; DVT); proximal (± distal) lower limb DVT, including the iliac vein; or distal lower limb DVT. Anticoagulant therapy at baseline and at hospital discharge or 14 days after diagnosis (whichever was later) was recorded. Results Of the 6122 eligible patients, 324 who had DVT at locations other than the lower limb and no PE were excluded from this analysis (as a key objective was to compare subgroups with DVT in the lower extremities according to whether the location was distal alone or involved the proximal segment). The remaining 5798 patients had either distal DVT (17.7%), proximal (± distal) DVT (40.0%) or PE (± any DVT) (42.3%) (Table). The likelihood of being diagnosed in an emergency department and of being hospitalized for VTE increased in line with the seriousness of the index event (distal DVT to PE). There were corresponding increases in age and the proportion of patients with comorbidities and/or medical history such as hypertension, diabetes mellitus or active cancer across these subgroups. At the time of hospital discharge or 14 days after diagnosis, whichever was later, non-vitamin K antagonist oral anticoagulants were the most commonly used anticoagulants (53% of patients in the PE group and 55–56% in the two DVT groups). The use of parenteral anticoagulant therapy alone appeared to be lower in the PE group than in the DVT groups, but the total use of parenteral therapy (alone or prior to oral anticoagulation) increased across groups from distal DVT (67%) to proximal DVT (74%) to PE (79%). Conclusion These data provide an insight into the potential differences in patient characteristics and treatment patterns among patients with PE, proximal/iliac lower limb DVT or distal lower limb DVT. Acknowledgement/Funding Funded by Boehringer Ingelheim