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Clinicians need accurate, reproducible, fast, and cost-effective grading systems to determine facial functions. There is currently no internationally accepted objective method to report the loss of function at the onset of facial paralysis and subsequent recovery. Our study aimed to test a three-dimensional handheld light scanner's efficacy for grading facial paralysis and monitoring recovery.Sixty-one healthy volunteers (28 men and 33 women) aged between 20 and 75 years (mean 36.4 ± 11.9 years old) and 22 patients with facial palsy (10 male and 12 female patients) aged between 12 and 77 years (mean 47.6 ± 19.7 years old) were included in the study. The healthy individuals' and patients' facial scans were performed with a three-dimensional handheld scanner during different facial expressions at 3-month intervals. The asymmetry and intensity degree of each facial expression were determined in terms of the root mean square.After facial paralysis, a significant larger asymmetry value (1.2 ± 0.4 mm vs. 2.0 ± 0.8 mm and p0.05) was determined as compared to the control group, while a significant smaller intensity value (2.3 ± 1.2 mm vs. 1.7 ± 0.9 mm and p0.05) was observed. At the end of 3 months, both parameters showed a tendency to recover.Our findings suggest that three-dimensional morphological analyses may be an effective method to grade facial palsy. However, our data need to be confirmed by larger cohort size and more extended follow-up periods.

BackgroundAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2–5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different countries report a similar median diagnostic delay of around 12 months, which is still far from desirable. We analyzed the diagnostic pathway in different countries in order to identify the major challenges.MethodsWe studied a cohort of 1,405 ALS patients from five different centers, in four different countries (Turkey, Germany, Poland, and Portugal), which collaborated in a common database. Demographic, disease and sociocultural factors were collected. Time from first symptom onset to first medical evaluation and to diagnosis, the specialist assessment and investigations requested were analyzed. Factors contributing to diagnostic delay were evaluated by multivariate linear regression.ResultsThe median diagnostic delay from first symptom onset was 11 months and was similar between centers. Major differences were seen in the time from symptom onset to first medical evaluation. An earlier first medical evaluation was associated with a longer time to diagnosis, highlighting that ALS diagnosis is not straightforward in the early stages of the disease. The odds for ALS diagnosis were superior when evaluated by a neurologist and increased over time. Electromyography was decisive in establishing the diagnosis.ConclusionsWe suggest that a specific diagnostic test for ALS—a specific biomarker—will be needed to achieve early diagnosis. Early referral to a neurologist and to electromyography is important for early ALS diagnosis.

Although there have been numerous reports of major replantation of upper extremity amputations, limited numbers of above-elbow amputation replantation have been reported. We present the technical details of two successful replantations of forequarter amputations in a nine-year-old girl and a three-year-old boy. In both cases, the forequarter was amputated due to avulsion traction injuries resulting in amputation including the entire upper limb, while the integrity of the scapula and parascapular muscles was maintained, with no injury to the glenohumeral joint. Replantation was performed, involving a shorter ischemia time with proper fixation, and vascular and neural repairs. Postoperative recovery was uneventful, and motor and sensorial acquisition were quite satisfactory during follow-up periods of 9 and 6 years, respectively. Proper fixation of the amputated part mimicking the original anatomy, radical debridement of avulsed vessels, and reconstruction of the defect using long vein grafts and neural repair while maintaining proper integrity are the most important factors in success. When the requirements are met, replantation of the forequarter in a child yields a superior outcome, from both the functional and esthetic perspectives. To the best of our knowledge, this is the first report in the English literature involving two sequential cases of such high-level replantation resulting in successful reacquisition of both viability and function.

ObjectiveAmyotrophic lateral sclerosis (ALS) pathogenesis is still unclear, its course is considerably variable, and prognosis is hard to determine. Despite much research, there is still a lack of easily accessible markers predicting prognosis. We investigated routine blood parameters in ALS patients regarding correlations with disease severity, progression rate, and survival. Additionally, we analyzed disease and patients' characteristics relating to baseline blood parameter levels.MethodsWe analyzed creatine kinase (CK), albumin (ALB), creatinine (CREA), total cholesterol (TC), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides (TG) levels around time of diagnosis in 1,084 ALS patients. We carried out linear regression analyses including disease and patients' characteristics with each blood parameter to detect correlations with them. Linear regression models were performed for ALSFRS-R at study entry, its retrospectively defined rate of decay and prospectively collected progression rate. Different survival analysis methods were used to examine associations between blood parameters and survival.ResultsWe found higher CK (p-value 0.001), ALB (p-value p-value p-value 0.044) at time of diagnosis being associated with better functional status according to ALSFRS-R scores at study entry. Additionally, higher CREA levels were associated with lower risk of death (p-value 0.003).ConclusionsOur results indicate potential of CK, ALB, CREA, and HDL as disease severity or progression markers, and may also provide clues to ALS pathogenesis. However, these values are highly dependent on other variables, and further careful, longitudinal analyses will be necessary to prove the relevance of our findings.

Objectives There is a clinical variability and heterogeneity among Facioscapulohumeral Muscular Dystrophy (FSHD) patients. Escalation after menopause in women, early onset in men suggests that estrogen might be a protective factor on the course of FSHD. In spite of few molecular studies supporting the protective role of estrogen in FSHD in vitro, there is no study revealing the effect of estradiol on the protein levels of DUX4, β-catenin and PAX3/PAX7. In present study, we investigated the effect of estradiol treatment on the expressions of DUX4, β-catenin and PAX3/PAX7 protein levels. Materials and Methods Primary myoblasts of 63 and 71 years old (63yM/71yM) males; 47 years old (47yF) female FSHD patients were used. Cells were processed under these conditions; (i) untreated, (ii) 10 nM-30 min estradiol and (iii) 10 nM-4 h estradiol treated. The expression of DUX4, PAX3/PAX7 and β-catenin were examined by western-blotting. Results Expression of DUX4 significantly downregulated after 4 h treatment of estradiol while PAX3/PAX7 56 kDa variant expression upregulated in 71yM cells. β-catenin and PAX3 expression was variable among the samples. Conclusion Our results suggest that estrogen might be a palliative treatment option via downregulation of DUX4 protein in DUX4 expressing FSHD patients.

Introduction: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease that affects nerve cells in the brain and spinal cord, controlling voluntary muscle movement. Data mining is a discipline that provides meaningful conclusions from databases or implicit data. In this study, we examine the relationship between the clinical and demographic characteristics of ALS patients and a control group, using data mining techniques. Methods: In the study, data belonging to 235 patients diagnosed with ALS and a control group of 117 people consisting of relatives of ALS patients were used. The dataset contains 121 features that include clinical and demographic information for each patient. The patient group and the control group were examined together and separately to examine the relationship between the features. In the study the data mining methods of classification and clustering were used on R and WEKA software packages. Results: There were no significant differences between ALS patients and the control group in terms of environmental factors such as location, gender, smoking, exercise status, and clinical factors such as genetics, ALS involvement, course of the disease, disease in the family. The results also showed that there was no relationship between demographic and clinical features such as gender, occupation, age group, and concomitant disease between groups or within groups.

Objectives The relation between increase of tonus and joint movement velocity is controversial in Parkinson's rigidity. It is accepted that the increase of tonus in rigidity is constant during joint movement, and does not change within all limits of movement. However, there is thoughtful evidence that the change in tonus in rigidity has a correlation with joint movement velocity and amplitude of movement. The pendulum movement that is formed by triggering of the patellar T reflex allows the examination of phasic stretching reflexes and physiological changes of passive stretching. Therefore, the velocity and amplitude properties of tonus in Parkinson's rigidity can be scanned together. Materials and methods Patellar T reflex-triggered patellar pendulum was recorded in 40 Parkinson's patients. The velocity and amplitude changes in the pendulum were observed according to the rigidity scale. Muscle action potentials were recorded from the rectus femoris muscle and biceps femoris muscles simultaneously via superficial recording electrodes. Knee joint angle changes were recorded with a goniometer. The kinesiological and electromyographic features were compared with those of the control subjects. Results The number of pendulums decreased significantly, the angle of joint movement decreased, the peak time decreased and the angular velocity slowed down significantly in the Parkinson's group. While the latency of the patellar T reflex did not change significantly, its amplitude decreased, and the onset time of joint movement measured by accelerometer was prolonged. Conclusions Parkinson's rigidity has a velocity-dependent component, and this correlates negatively with the rigidity scale.

There has been an increase in studies on amyotrophic lateral sclerosis (ALS) in the last thirty years. These studies show an ALS incidence rate that varies between 0.6 and 3.8 per 100,000 person-years. The incidence rate is significantly lower in Asia than in Europe and North America. ALS prevalence rates vary between 4.1 and 8.4 per 100,000. It is more common in men, and the male-to-female ratio is between 1 and 2. The mean age of ALS onset is between 51 and 66 years. Patients with familial ALS tend to have an earlier age of onset compared with patients with sporadic ALS. Some 58-82% of the cases have a spinal onset. The studies show age, male sex, and family history as risk factors. Other than these, lifestyle and exposure to environmental factors may have an effect. The period from the first symptoms to either invasive ventilatory support or death is between 24 and 50 months. ALS foci with high prevalence have been recorded in Guam, The Kii Peninsula, and New Guinea. Underdeveloped or developing countries show a speedy aging tendency, which points to an increased burden due to ALS in their future. Further epidemiologic studies with higher case numbers in different regions are needed to be able to enlighten causative associations of the disease.

The aim of the study is to find the prevalence and incidence of amyotrophic lateral sclerosis in Antalya and to define patient characteristics.The study represents five major districts in the Antalya metropolitan region, with a population of 1,286,943, which is defined as the provincial center. In cooperation with the neurology departments of all hospitals and private practices, existing cases were identified and new cases were recorded with continuous monitoring. Detailed demographic and clinical features of each patient were recorded, Revised El-Escorial Criteria were used for diagnosis. Incidence and prevalence rates are standardized by age based on USA 2016 population.Point prevalence rates of 2016, 2017 and 2018 are 3.7, 4.7 and 5.4 per hundred thousand, respectively. Standardized prevalence rates for the US population are 5.5, 7.1 and 8.6 per hundred thousand in the same order. The incidence rate in 2017 is 1.4 per hundred thousand, and 2018 is 1.2. Standardized incidence rates for the US population are 2.1 and 1.8 per hundred thousand, respectively. About 75.6% of the cases were classified as definite, 11.0% probable, 11.0% possible, 2.4% probable laboratory-supported. The male/female ratio is 2.0 for total cases and 2.8 for new cases. The site of onset is spinal in 81.7% of patients and bulbar in 18.3%.ALS rates detected in Antalya and the general features of the disease show similarities with European countries rather than Asian countries and comply with the literature.

Non-invasive estimation of the conduction velocity distribution (CVD) of a peripheral nerve has the potential to both improve clinical diagnoses of pathology and to observe the progress of the disease or the efficacy of treatments. Comparisons were made of the performance of three non-invasive CVD estimation methods proposed by independent research groups on peripheral nerve bundles under different conditions.The first method (Cummins) uses a nerve compound action potential (CAP) with temporal dispersion and a mathematical single fiber action potential (SFAP). The second method (Barker) uses two CAPs and a non-mathematical SFAP waveform. The third method (Hirose) uses two CAPs recorded from distal and proximal sites. The Cummins and Barker methods have iterative solutions in the time domain while the Hirose method is a deconvolution estimator in the frequency domain. In order to compare these methods, we used cold exposure to affect primarily motor fibers and ischemia to affect primarily sensory fibers on rat caudal nerve bundles.The Cummins method is sensitive to changes in motor and sensory fiber percentages in CVD if it is used with the volume conductor model. The Barker and Hirose methods are sensitive to motor fiber percentages in CVD but they cannot detect changes in sensory fiber percentages accurately.Estimation of the CVD using a priori SFAP created with a volume conductor model can non-invasively supply accurate and precise information about fiber groups in a peripheral nerve bundle.

© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made., Objective: To investigate disease spread in amyotrophic lateral sclerosis (ALS), and determine the influence of lower (LMN) and upper motor neuron (UMN) involvement. Methods: We assessed disease spread in ALS in 1376 consecutively studied patients, from five European centers, applying an agreed proforma to assess LMN and UMN signs. We defined the pattern of disease onset and progression from predominant UMN or lower motor neuron (LMN) dysfunction in bulbar, upper limbs, lower limbs, and thoracic regions Non-linear regression analysis was applied to fit the data to a model that described the relation between two random variables, graphically represented by an inverse exponential curve. We analyzed the probability, rate of spread, and both combined (area under the curve). Results: We found that progression was more likely and quicker to or from the region of onset to close spinal regions. When the disease had a limb onset, bulbar motor neurons were more resistant. Furthermore, in the same time frame more patients progressed from bulbar to lower limbs than vice-versa, whether predominantly UMN or LMN involvement. Patients with initial thoracic involvement had a higher probability for rapid change. The presence of predominant UMN signs was associated with a faster caudal progression. Interpretation: Contiguous progression was leading pattern, and predominant UMN involvement is important in shortening the time for cranial-caudal spread. Our results can best be fitted to a model of independent LMN and UMN degeneration, with regional progression of LMN degeneration mostly by contiguity. UMN lesion causes an acceleration of rostral-caudal LMN loss., This is an EU Joint Programme - Neurodegenerative Disease Research (JPND) project. The project is supported through national funding organizations under the aegis of JPND - www.jpnd.eu. This project was also partially supported by FCT funding to Neuroclinomics2 (PTDC/EEI-SII/1937/2014).

Deep tendon reflexes are one of the main parameters of the neurological examination in many diseases. Reflex responses increase in upper motor neuron diseases due to a lack of suprasegmental control such as spasticity and rigidity. This information provided by the reflex response makes it an indispensable element of neurological examination. However, an important limitation is that this assessment is subjective. In this study, EMG and kinesiology measurements were recorded together during the assessment of the patellar T reflex in healthy control, spasticity, and Parkinson's disease groups. Nine kinesiologic and three electrophysiologic features were extracted. We validated the proposed method with three healthy participants by ten repeated measurements on 6 different days and we observed that angular velocity is the most stable parameter. Clustering of different groups determined with K-clustering and artificial neural network used for classification with kinesiological and EMG inputs. Our findings show that reflex grade can be determined with high accuracy (Acc = 98.6) in a large population for both pathological and healthy groups and angular velocity is sufficient for reflex grading. Therefore, we think that our study will contribute to the literature by providing an approach with high reliability and reproducibility in the quantitative assessment of reflexes.

SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method. We aimed to reveal both the most common copy number profiles of different SMA types. It was found that the frequency of homozygous deletions in SMN1 was 15.9%, while heterozygous deletions was 16.9%. The most common SMN-MLPA profile was 0-0-3-3. In the cases with homozygous deletion, SMA type III diagnosis was observed most frequently (44%), and the rate of consanguineous marriage was found 33%. Two cases with the same exonic copy number profile but with different clinical subtypes were identified in a family. We also detected distinct exonic deletion and duplication MLPA profiles for the first time. We created "the SMA signature" that can be added to patient reports. Furthermore, our data are important for revealing potential local profiles of SMA and describing the disease in genetic reports in a way that is clear and comprehensive.

Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with unsatisfactory treatment options. Best management and recruitment into clinical trials requires early diagnosis. However, diagnosis is often delayed. Analysis of the diagnostic pathway and identification of the causes of diagnostic delay are imperative.Methods: We studied a cohort of 580 ALS patients followed up in our ALS clinic in Lisbon. Demographic, disease, and sociocultural factors were collected. Time from first symptom onset to diagnosis, the specialist's assessment, and investigations requested were analyzed. Predictors of diagnostic delay were evaluated by multivariate linear regression, adjusting for potential confounders.Results: The median diagnostic delay from first symptom onset was 10 months. Spinal-onset, slower disease progression, cognitive symptoms at onset, and lower income were associated with increased diagnostic delay. Most patients were first assessed by general practitioners. Patients who were first evaluated by a neurologist were more likely to be correctly diagnosed, decreasing time to diagnosis. Electromyography was decisive in establishing the diagnosis.Conclusions: Late referral from non-neurologists to a neurologist is a potentially modifiable factor contributing to significant diagnostic delay. Educational interventions targeted to non-neurologists physicians, in order to increase awareness of ALS and, consequently, promote early referral to a neurologist at a tertiary center, will be important in reducing diagnostic delay.

Purpose The three-dimensional morphological analysis of facial expressions has been becoming increasingly common and hand-held three-dimensional scanners can be advantageous in data acquisition due to their mobility. The aim of the present study was to test intra-subject, intra-observer and inter-observer reproducibility and reliability of a hand-held scanner during facial expressions. Materials and methods In order to investigate intra-subject reproducibility and reliability, we performed face scanning two times on 30 healthy subjects at three-month intervals. In addition, two observers scanned twice the face of 10 healthy subjects consecutively to evaluate intra-observer and inter-observer differences. Scannings were performed during facial expressions. Face asymmetry and severity of facial expression were determined using root mean square (RMS) value. Repeated-measurement ANOVA was used to test the reproducibility and correlation coefficient to determine the reliability of the facial expressions. Results The mean RMS values measured at different times were not significantly different for any facial expression (p > 0.05). The reliability of the measurements was variable depending on the facial expression (r = 0.47 and 0.98, p Conclusions Our study may contribute to the development of new techniques for examining facial expressions. Hereby, morphological analysis may be possible in the clinic and at the bedside without the need for laboratory conditions.

Objective: To investigate the relationship between diaphragm motor evoked potential (Dia-MEP) with swallowing, respiratory function and survive in amyotrophic lateral sclerosis (ALS) patients.

METHODS This article describes a rehabilitation program and the long-term results after its application in 2 double-hand transplantation patients after 9- and 4-year follow-up periods. A personal rehabilitation program was planned to commence as early as possible after postoperative patient stabilization. Splinting, edema, positioning, passive and active joint movements, daily life activity modification and education, and occupational therapy were also emphasized. RESULTS Positioning, edema, and passive joint movements were started in the acute phase. Strengthening and exercises were continued for 8 weeks and later for functional gains and adaptation to daily living activities. Subjective and overall results were quite satisfactory. The Hand Transplantation Score System, Disabilities of the Arm Shoulder and Hand, Semmes Weinstein Monofilaments, sensory tests, and modified Kapandji index improvements were all within good acceptable ranges. Although rapid recovery and functional development were observed in the first 4 years, these are still continuing at the time of writing. DISCUSSION The most important determining factors in the success of rehabilitation are to return to daily life and the ability to acquire functional skills. Long-term follow-up of the patients in this study showed that they were able to return to their independent daily lives and that external assistance decreased to a minimum.

After tissue or limb loss, the development of sensation and perception of the lost or deafferent tissue is defined as a phantom phenomenon. We investigated the presence of phantom phenomena in individuals who underwent a full face transplant as well as those who had a hand transplant. Specifically, we investigated sensory perception of the face on the fingers and sensory perception of the fingers on the face in three full face and four hand transplant patients. In all seven individuals, we used a brush to separately stimulate the right and left sides of the face or the palmar and dorsal faces of the hand. We then asked the individuals if they felt a sensation of touch on any other part of their body and, if so, to describe their perceptions. Changes in the regions of the primary sensory cortex representing the hand and face were defined using fMRI obtained via tactile sensory stimulation of the clinical examination areas. Two of the full face transplant patients reported sensory perceptions such as a prominent sensation of touch on their faces during sensory stimulation of their fingers. Three of the hand transplant patients reported sensory perceptions, which we referred to as finger patches, during sensory stimulation of the face area. In fMRI, overlaps were observed in the cortical hand and face representation areas. We consider the phantom hand and phantom face phenomena we observed to be complementary due to the neighborhood of the representations of the hand and face in the somatosensory cortex.

© 2021 Elsevier B.V. All rights reserved., Background: The role of cardiovascular risk factors in amyotrophic lateral sclerosis (ALS) is controversial. A favourable profile has been found in ALS patients, but previous studies have not specifically considered the profile in different disease phenotypes. Methods: Demographic data, smoking habits, lifetime exercise, and medical history including diabetes mellitus, arterial hypertension, hypercholesterolemia, hypertriglyceridemia, stroke, and cardiac events, were analysed in ALS patients and in controls with other neurological disorders, utilising a standardized questionnaire applied by the same neurologist. In ALS patients the results were analysed according to their different phenotypes. Univariate analyses and multinomial logistic models were applied to estimate the odds ratios (ORs) and confidence intervals (CIs) for covariates, to test potential modifiers and their effects. Results: 500 consecutively assessed adult ALS patients (mean age 65.6, 47% women, and 136 bulbar-onset) and 327 age and gender-matched controls were studied. Patients with spinal-onset ALS took more exercise (p = 0.012), reported less hypertension (p = 0.002) and had fewer cardiac events (p = 0.012). Multinomial regression analysis showed that men without hypertension have a higher risk of having spinal-onset ALS (p < 0.001) while female with hypertension have a higher risk of having bulbar-onset ALS (p = 0.033). Conclusions: Risk-factors in ALS can be influenced by gender and phenotype. This study suggests that men with spinal ALS are healthier, exercise more and have lower rate of hypertension, but females with bulbar-onset ALS are more prone to hypertension. The complex interplay between exercise, diet and comorbidities with ALS phenotype requires further investigation., This study is included in the ONWebDUALS project (JPND-PS/0001/2013) initiative. This is an EU Joint Program – Neurodegenerative Disease Research (JPND) project – Fundação para a Ciência e a Tecnologia (JPND-PS/0001/2013).

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ., Amyotrophic lateral sclerosis (ALS) is a rare and progressive neurodegenerative disease mainly affecting upper and lower motor neurons but also causing multisystem involvement, in particular, associated with cognitive changes. Minor sensory fibre dysfunction has been described in the past and confirmed in recent studies. In a multicentre study investigating a population of 88 patients with ALS, the ESTEEM group (a European Telematic Project for quality assurance within Clinical Neurophysiology) reported sensory polyneuropathy (PNP) in 12.5% of the patients, not influenced by age, disease duration and onset region. In this study, we aimed to readdress prevalence of and risk factors for PNP in a larger population of patients with ALS. A large number of variables, including gene mutations, were assessed.

Amyotrophic Lateral Sclerosis is one major disease in the group of neurodegenerative conditions. As with most other neurodegenerative diseases, clinical signs of the disease usually show among the elderly population, and most commonly around 60-65 years of age. Therefore the disease is not expected to impact the fertility of ALS patients. When examined from an evolutionary medicine and evolutionary biology perspective, there should be no selection pressure on the patient population due to the late onset of ALS.

Sudden foot dorsiflexion lengthens soleus muscle and activates stretch-based spinal reflexes. Dorsiflexion can be triggered by activating tibialis anterior (TA) muscle through peroneal nerve stimulation or transcranial magnetic stimulation (TMS) which evokes a response in the soleus muscle referred to as Medium Latency Reflex (MLR) or motor-evoked potential-80 (Soleus MEP80), respectively. This study aimed to examine the relationship between these responses in humans. Therefore, latency characteristics and correlation of responses between soleus MEP80 and MLR were investigated. We have also calculated the latencies from the onset of tibialis activity, i.e., subtracting of TA-MEP from MEP80 and TA direct motor response from MLR. We referred to these calculations as Stretch Loop Latency Central (SLLc) for MEP80 and Stretch Loop Latency Peripheral (SLLp) for MLR. The latency of SLLc was found to be 61.4 ± 5.6 ms which was significantly shorter (P = 0.0259) than SLLp (64.0 ± 4.2 ms) and these latencies were correlated (P = 0.0045, r = 0.689). The latency of both responses was also found to be inversely related to the response amplitude (P = 0.0121, r = 0.451) probably due to the activation of large motor units. When amplitude differences were corrected, i.e. investigating the responses with similar amplitudes, SLLp, and SLLc latencies found to be similar (P = 0.1317). Due to the identical features of the soleus MEP80 and MLR, we propose that they may both have spinal origins.

2019-novel Coronavirus disease (COVID-19) is a global health problem that affected >2.000.000 people in the world. Although the main component of the disease is pulmonary disturbances, recent reports suggested neurological manifestations. Neurological complications have been rarely reported with other Coronavirus associated diseases. In this short review, we would like to draw attention to COVID-19-related neurological symptoms. Heath-care providers should be aware that COVID-19 can associate neurological manifestations.

The suppression of oxidative-stress induced neurotoxicity by antioxidants serves as a potential preventive strategy for neurodegenerative diseases. In this study, we aimed to investigate the cell protective and antioxidant effects of masitinib and cromolyn sodium against toxin-induced neurodegeneration. First, human neuroblastoma SH-SY5Y cells were differentiated into neuron-like (d)-SH-SY5Y cells. The differentiated cells were confirmed by immuno-staining with anti-PGP9.5 antibody, a neuronal marker. Cell culture groups were formed, and a neurotoxin, 1-methyl-4-phenyl1,2,3,6-tetrahydropyridine (MPTP) was applied on cells followed by masitinib and/or cromolyn sodium treatments. Survival rate of cells were detected by MTT assay. Anti-inflammatory Transforming Growth Factor-β1 (TGF-β1) and nitric oxide (NO) levels and total oxidant and antioxidant capacities (TOC and TAC) in cell conditioned media (CM) were measured. Morphological analysis and apoptotic nuclear assessment of cells were also noted. When (d)-SH-SY5Y cells were exposed to neurotoxin, cell viability rates of these cells were found to be decreased in a concentration-dependent manner. CM of toxin applied group displayed higher levels of TOC/TAC ratios and NO levels compared to control (p 0.01). Both masitinib and cromolyn sodium protected cells from toxin-induced cell death as revealed by ameliorated rates of viability, reversed toxin-induced elevation of TOC/TAC ratios, and decreased NO levels in their CM (p 0.01). Combined treatment significantly reduced TOC/TAC ratios and NO levels more effectively compared to mono-treatments. Both drugs also increased TGF-β1 levels significantly in cell CM. When these agents were tested for therapeutic effects against toxin-induced cell degeneration, better viability results were obtained by both masitinib and cromolyn sodium treatment, with significantly better amelioration provided by combined application of these drugs (p 0.01). This study demonstrated new findings that combined treatment with cromolyn sodium, an FDA-approved drug of asthma, and masitinib, an orally administered drug with a low toxicity, exert neuroprotective and additive therapeutic effects. We propose that combination therapy of masitinib and cromolyn sodium may represent an innovative treatment in neurodegenerative diseases. Combination therapy may be more advantageous that it enables combined application of lower doses of both drugs, providing less side effects.

Background The repair of extensive lower lip defects is difficult due to the presence of both functional and esthetic requirements. This report describes functional lip repair using the partial latissimus dorsi free flap without nerve coaptation. Methods Reconstruction of the lower lip due to subtotal and total tissue defects was performed using latissimus dorsi free flap on twelve patients, between 2013 and 2017. The etiology was squamous cell carcinoma in six patients, malignant melanoma in one, firearm injury in three and microstomia in two. Following exposure of the lip defect, the partial latissumus dorsi muscle flap was harvested and transfered into the lower lip defect. The microvascular anastomoses was done and no nerve coaptation was performed. The muscle was covered with a skin graft taken from the thigh for mucosal and skin lining. Functional outcomes were assessed using physical examination, electromyography (EMG), electroneuromyography, cold/warm and pain sensation, two point discrimination (TPD), and Semmes Weinstein (SMW) tests. Results Postoperative course was uneventful for all of the flaps. Patients were followed for between fifteen months and four years (mean 28.2 months).Color match between the flap and the face and functional outcome was satisfactory. Reinnervation was detected at EMG in eleven patients undergoing surgery six months postoperatively.After 1 year, the patients demonstrated quite normal results of the test with SMW and TDP results. None of patients perceived both hot and cold sensation. Conclusion The technique is an alternative option in lower lip reconstruction since it provides satisfactory functional and esthetic results despite absence of any neural coaptation.

Highlights • Motor unit number of the rectus femoris muscle in spasticity is measured by using the MUNIX algorithm. • Ideal Case Motor Unit Count (ICMUC) can be used for comparing voluntary force production between spasticity and healthy volunteers. • The modified MUNIX (MUNIXT) algorithm is a potential marker for increasing the excitability of alpha motor neuron pool in spasticity., Objective The understanding of the spasticity mechanism is still a problem in the literature, as its definition can be made on the basis of more than one parameter. Therefore, we studied alpha motor neuron excitability, dynamic changes based on force production, and patellar tendon (T) reflex in spasticity and healthy control groups. Methods Alpha motor neuron excitability, force production, and patellar T reflex were evaluated through three different test protocols. Motor Unit Number Index (MUNIX) measurement was applied for understanding motor neuron pool properties in the first protocol. Voluntary force production and patellar T reflex parameters were evaluated by voluntary force production and triggering patellar T reflex. Twenty spasticity and 20 healthy volunteers participated in the study. Results In the spasticity group, both MUNIX numbers and Motor Unit Size Index (MUSIX) numbers were lower than those in the control group. The results for the Ideal Case Motor Unit Count (ICMUC) parameter show that there is no significant difference between spasticity and healthy individuals for low-level contractions, whereas there is a significant difference for high-level contractions (p

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with loss of muscle function. The pathogenesis is still unclear and the heterogeneity of ALS phenotypes is huge. We investigated a large population of ALS patients and controls concerning comorbidities and medications to detect specific risk or protective factors regarding onset and progression of ALS. We investigated a cohort of 200 ALS patients pro- and retrospectively compared to a control group. For comparison of frequencies of comorbidities and medication intake, uni- and multivariate binary logistic regressions were performed. To analyze the influence of comorbidities and medication on the progression of ALS, we used linear regression analysis. ALS patients showed a relevantly higher prevalence of strokes and depression compared to controls. Moreover, ALS patients reported relevantly more often regular physical activity and their BMI was lower. The coexistence of coronary heart disease was associated with a relevantly faster disease progression. Intake of contraceptives was relevantly higher in controls compared with ALS patients. Our results suggest stroke, lower BMI, and regular physical activity as risk factors for ALS. Strokes could be a possible trigger of the pathogenetic pathway of ALS and the lower BMI with consecutively lower rate of hyperlipidemia supports the hypothesis of premorbid hypermetabolism in ALS patients. Coexistence of coronary heart disease possibly has a negative influence on respiratory involvement. Contraceptives could be beneficial due to a protective effect of estrogen. Information on influencing factors can help to elucidate the pathogenesis of ALS or provide approaches for possible therapeutic options.

The aim of this study is to examine cortical plasticity and to analyze cortical reorganization following hand and facial transplantation, using functional magnetic resonance imaging. Patients who had undergone full-face transplantation, hand transplantation and scapular arm replantation, as well as healthy controls, participated in the study. The perioral area and volar surfaces of the index finger and thumb were stimulated and images were acquired using 3 T functional MRI. The areas of the somatosensory cortex representing the hand and face are different in size and shape due to experience-dependent plasticity. Therefore, a new and more adaptive volume of interest analysis was created whereby the radiuses of the VOI masks were defined by the peak intensity of subsequent clusters. For each control subject, the distribution of activated voxels was observed for various cluster defining thresholds in order to determine the mean number of activated voxels for each stimulation inside the defined region. The determined numbers of voxels per subject were extracted from the defined regions using a binary search algorithm. Subsequently, the distances between the weighted centers of the extracted regions were calculated and compared. In transplant patients, the weighted centers of the hand and face clusters were separated at same-sized volumes. Two of the rehabilitated full-face transplant patients converge to the range of the controls. As a result, the weighted distribution of somatotopy indicated previous and present cortical reorganization. Additionally, referred sensation was assessed in two full-face transplant and one replant patient with activation clusters partially in BA40 in the Inferior Parietal Lobule.

Spasticity is one of the major problems that arise in different neurological diseases and seriously affect the quality of human life. Research on the understanding of mechanism of spasticity remains as important as the studies on the spasticity therapy and rehabilitation. In this study, the spasticity mechanism which develops concerning the upper motor neuron lesions is investigated by modelling “Patella tendon reflex triggered patella pendulum”. The mathematical model based on the pendulum phenomenon is developed by solving the curve-fitting problem as finding the curve that best fits a set of data points. Electrophysiological and dynamic measurement data were taken from 76 spastic subjects and 20 healthy participants. The mathematical model is determined by the morphological properties of the goniometric variations. The results denote that the mathematical model containing two clinically relevant parameters –frequency component of the damped oscillatory motion defined as “f0” with the maximum angle of the reflex defined as “a0” ensures to distinguish spasticity from healthy subjects.

Copyright: © 2019 Barc K et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited., Amyotrophic lateral sclerosis (ALS) is a fast progressing neurodegenerative disease leading to quadriplegia, anarthria and respiratory insufficiency. A large variety of phenotypes and disability progression requires individually tailored management. Identification of predictors of poor prognosis may not only improve management, but also allow for more precise patients' stratification for clinical trials or research studies. The aim of the study was to investigate the influence of emotional lability present at disease onset on ALS progression by exploring its direct impact on the decay of the ALS Functional Rating Scale-Revised (ALSFRS-R). The study was performed in a group of 1145 patients from Germany, Poland, Portugal and Turkey between 2014 and 2018. The analysis showed that the presence of emotional lability at ALS onset was linked to a faster decline of ALSFRS-R (0.70 vs 0.50, p, This study was supported by OnWebDuals project (JNPD 01ED1511B; DZP/2/JPND-III/2015). This is an EU Joint Programme - Neurodegenerative Disease Research (JPND) project. The project is supported through the following funding organization under the aegis of JPND - www.jpnd.eu: Germany, Bundes-ministerium für Bildung und Forschung (BMBF); Poland, Narodowe Centrum Badań i Rozwoju (NCBiR); Portugal, Fundação a Ciência e a Tecnologia (FCT); Sweden, Vetenskapsrådet (VR).

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons in the brain and spinal cord, leading to muscle weakness and death due to respiratory failure.1 Although most cases of ALS are sporadic, up to 10% of patients have a positive family history of ALS, usually associated with causative gene mutations.2 Latest evidence has shown that ALS is a complex multisystem disorder with extramotor involvement, namely, cognitive deficit and extrapyramidal dysfunction, expanding the clinical spectrum of the disease. Cognitive impairment is present in up to 50% of patients with ALS with different degrees of severity, and 15% of patients have a concomitant diagnosis of frontotemporal dementia (FTD).1 In fact, the clinical imaging and pathological and genetic overlap between ALS and FTD have led to the definition of an ALS/FTD continuum.1 Thus, one may speculate that a positive family history of neurodegenerative disorders (NDs) can be associated with ALS development. In this prospective case–control study, we aimed to describe the family aggregation of ND within the group of patients with ALS and to estimate the risk of ALS development in patients with a positive ND family history. ### Study population We included 496 adult Portuguese patients with ALS followed up from January 2015 to January 2018 in our ALS clinic in Lisbon. Patients with definite, probable laboratory-supported and …

The aim of this study was to investigate cortical plasticity in potential transplant candidate patients with facial lesions and to analyze cortical reorganization after tissue loss using functional magnetic resonance imaging. The study included 10 healthy 4 facial lesion patients. The volar surfaces of the index finger and the thumb and the perioral area of the lower face were stimulated by means of a cotton swab and images were recorded on a 3T functional MRI system. The areas in the somatosensory cortex representing the hand and face differ in size, shape, density and position due to experience-related plasticity. The distances between the peaks of the represented hand and face areas were calculated in order to examine the ongoing cortical plasticity while ignoring these differences. As a result, the peak intensity distances were observed to be larger than the control group depending on the case with facial lesions.

In this study, EEG beta band examinations were performed in patients with facial lesions and compared with the control group. 10 healthy volunteers and 4 patients with face lesions participated in this study Right-hand sensory and rightlower face sensory EEG recordings were analyzed based on wavelet packet transformation, and lower and upper beta band maximum amplitude values and ratios were compared with control group. Significant differences were found in 2 patients for right hand stimulus and were found in 3 patients for right face stimulus. The mapping of the two senses on the cortex was performed and the differences in the activity areas were discussed.

Background and aims Brain cortex controls movement but the influence of peripheral component of movement on cortex is not known. functional magnetic resonance imaging(fMRI) studies in volenteers, investigate cortex areas activated during execution and imagination of complex movements. We hypothesized that cortex areas activated to remember, organize and order to do a movement can be isolated from areas activated during performing the motor component of movement when the limb is peripherally blocked. We also aimed to show if there is bilateral cortex activity during acute peripheral motor block as seen in stroke patients and amputated patients. Methods We performed brain fMRI in 3 right-handed patients scheduled to undergo right-hand surgery with peripheral block anaesthesia as a pilot-study. Ethics approval and written informed consent from all patients were obtained. fMRI screening was performed before the surgery day and just before surgery after the block. Patients were screened when executing the task (figure 1) (after the block they just attempt), during rest and during they imagine doing the task. Results The activation areas decreased after right-hand block during both blocked and intact hand execution trials (figure 2) and imagination trials (figure 3). We propose that the difference between the areas of right hand represent the motor component of movement. Conclusions In this report, we describe a model that shows the activation areas during the effort of execution and imagery of complex hand movements during peripheral-nerve-block. There are many unknowns in the interactions between the brain-peripheral organ during movement. Identification of motor activation areas will help to perform more effective stroke rehabilitation and neurophatic pain therapies.

The authors tested face discrimination, face recognition, object discrimination, and object recognition in two face transplantation patients (FTPs) who had facial injury since infancy, a patient who had a facial surgery due to a recent wound, and two control subjects. In Experiment 1, the authors showed them original faces and morphed forms of those faces and asked them to rate the similarity between the two. In Experiment 2, they showed old, new, and implicit faces and asked whether they recognized them or not. In Experiment 3, they showed them original objects and morphed forms of those objects and asked them to rate the similarity between the two. In Experiment 4, they showed old, new, and implicit objects and asked whether they recognized them or not. Object discrimination and object recognition performance did not differ between the FTPs and the controls. However, the face discrimination performance of FTP2 and face recognition performance of the FTP1 were poorer than that of the controls were. Therefore, the authors concluded that the structure of the face might affect face processing.