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BACKGROUND AND PURPOSE: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. METHODS: A prospective systematic genetic screening for ATTRv-PN was proposed in patients presenting with a sensory-motor idiopathic polyneuropathy and two or more "red flags" among the following: family history of polyneuropathy or cardiopathy, bilateral carpal tunnel syndrome, cardiac insufficiency, renal amyloidosis, lumbar tract stenosis, autonomic dysfunction, idiopathic gastrointestinal disease, amyloid deposits on biopsy, and vitreous opacities. The detection rate was calculated, and nonparametric analyses were carried out to underline differences among screened positive versus negative patients. RESULTS: In the first step, 145 suspected patients underwent genetic testing, revealing a diagnosis of ATTRv-PN in 14 patients (10%). Then, cascade screening allowed early recognition of 33 additional individuals (seven symptomatic ATTRv-PN patients and 26 presymptomatic carriers) among 84 first-degree relatives. Patients with a positive genetic test presented a higher frequency of unexplained weight loss, gastrointestinal symptoms, and family history of cardiopathy. CONCLUSIONS: A systematic screening for ATTRv-PN yielded an increased recognition of the disease in our neurological clinic. Unexplained weight loss associated with axonal polyneuropathy had the highest predictive value in the guidance of clinical suspicion. A focused approach for the screening of ATTRv-PN could lead to an earlier diagnosis and identification of asymptomatic carriers, who will be promptly treated after a strict follow-up at the clinical onset.
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Neuropatias Amiloides Familiares , Polineuropatias , Humanos , Estudos Prospectivos , Sicília , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/genética , Polineuropatias/diagnóstico , Polineuropatias/genética , Testes Genéticos , Redução de PesoRESUMO
Continuous positive airway pressure (CPAP) is the first-choice treatment for obstructive sleep-disordered breathing. Automatic bilevel ventilation can be used to treat obstructive sleep-disordered breathing when CPAP is ineffective, but clinical experience is still limited. To assess the outcome of titration with CPAP and automatic bilevel ventilation, the charts of 356 outpatients (obstructive sleep apnea, n = 242; chronic obstructive pulmonary disease + obstructive sleep apnea overlap, n = 80; obesity hypoventilation syndrome [OHS], n = 34; 103 females) treated for obstructive sleep-disordered breathing from January 2014 to April 2017 were reviewed. Positive airway pressure titration was considered successful in the case of sleep-disordered breathing resolution (apnea-hypopnea index <10/hr) with cumulative time at SaO2 < 90% (CT90%) <10% and/or improved daytime arterial blood gases at the end of titration. CPAP was effective in 268 patients (75.0%). CPAP treatment failure (n = 88) occurred in 13.6% of obstructive sleep apnea, 32.5% of overlap, and 85.3% of OHS patients. Compared with successful CPAP cases, patients undergoing the automatic bilevel ventilation trial showed higher body mass index (39.3 ± 10.5 kg/m2 versus 34.8 ± 6.9 kg/m2 , p < 0.0001), worse mean nocturnal SaO2 (89.2 ± 4.0% versus 91.3 ± 4.0%, p < 0.003) and CT90% (40.6 ± 28.6% versus 24.0 ± 23.3%), but similar age (62.8 ± 11.9 years versus 60.5 ± 12.0 years, p = 0.11), apnea-hypopnea index (39.4 ± 23.2/hr versus 41.0 ± 21.2/hr, p = 0.55) and oxygen desaturation index (37.8 ± 23.5/hr versus 39.2 ± 21.1/hr, p = 0.61) at diagnosis. Automatic bilevel ventilation was successful in 79.5% of CPAP treatment failures (n = 70). Automatic bilevel ventilation failure was independently associated with baseline body mass index >40 kg/m2 (odds ratio 6.16, confidence interval 1.50-25.17, p = 0.011) and CT90% >42% (odds ratio 5.87, confidence interval 1.39-24.83, p = 0.016). During follow-up, automatic bilevel ventilation treatment failed in seven patients (10%), and compliance was similar in CPAP (4.5 ± 2.2 hr) and automatic bilevel ventilation (5.2 ± 2.3 hr, p = 0.09) groups. Automatic bilevel ventilation was useful to treat sleep-disordered breathing, but failed in patients with severe OHS.
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Índice de Massa Corporal , Pressão Positiva Contínua nas Vias Aéreas/métodos , Cooperação do Paciente , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/terapia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Respiração Artificial/métodos , Estudos Retrospectivos , Apneia Obstrutiva do Sono/fisiopatologiaRESUMO
Migraine is one of the most prevalent and disabling neurological conditions, presenting episodes of throbbing headache that limit activities of daily living. Several factors may influence migraine frequency, such as lifestyle or alcohol consumption. Among the most recognised ones, sleep plays a biunivocal role, since poor sleep quality may worsen migraine frequency, and a high migraine frequency may affect sleep quality. In this paper, the authors evaluate the relationship between migraine and insomnia by exploring a cohort of patients affected by episodic or chronic migraine. To do so, a phone interview was performed, asking patients about their migraine frequency and mean pain intensity, in addition to the questions of the Insomnia Severity Index. The last one explores several symptoms impairing sleep that focus on insomnia. Patients complaining of insomnia showed an increased migraine frequency, and a weak but significant correlation was found between headache days per month and insomnia scores. Such results were particularly evident in patients affected by chronic migraine. Such results suggest how insomnia, in the presented data, seems to be associated with migraine frequency but not with pain intensity.
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BACKGROUND: Patients with age-related white matter changes (ARWMC) frequently present a gait disorder, depression and cognitive impairment. Our aims are to define which alterations in the gait parameters are associated with motor or neuro-psychological impairment and to assess the role of motor, mood or cognitive dysfunction in explaining the variance of the gait parameters. METHODS: Patients with gait disorders admitted to a Neuro-rehabilitation Department, affected by vascular leukoencephalopathy who had ARWMC confirmed by a brain MRI, were consecutively enrolled, classified by a neuroradiological scale (Fazekas 1987) and compared to healthy controls. We excluded subjects unable to walk independently, subjects with hydrocephalus or severe aphasia, with orthopaedic and other neurological pathologies conditioning the walking pattern. Patients and controls were assessed by clinical and functional scales (Mini Mental State Examination, Geriatric Depression Scale, Nevitt Motor Performance Scale, Berg Balance Scale, Functional Independence Measure), and computerised gait analysis was performed to assess the spatial and temporal gait parameters in a cross-sectional study. RESULTS: We recruited 76 patients (48 males, aged 78.3 ± 6.2 years) and 14 controls (6 males, aged 75.8 ± 5 years). In the multiple regression analysis, the gait parameter with overall best model summary values, associated with the ARWMC severity, was the stride length even after correction for age, sex, weight and height (R2 = 0.327). The motor performances justified at least in part of the gait disorder (R2 change = 0.220), but the mood state accounted independently for gait alterations (R2 change = 0.039). The increase in ARWMC severity, the reduction of motor performance and a depressed mood state were associated with a reduction of stride length (R = 0.766, R2 = 0.587), reduction of gait speed (R2 = 0.573) and an increase in double support time (R2 = 0.421). CONCLUSION: The gait disorders in patients with ARWMC are related to motor impairment, but the presence of depression is an independent factor for determining gait alterations and functional status. These data pave the way for longitudinal studies, including gait parameters, to quantitatively assess gait changes after treatment or to monitor the natural progression of the gait disorders.
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Chronic migraine is a burdensome condition, and onabotulinumtoxinA is revealed to be an effective therapy. Migraine shows a bidirectional relationship with sleep, but the effects of preventive therapies on sleep quality are poorly studied. This study aims to evaluate the effects of a single session of onabotulinumtoxinA on patients' sleep quality and correlates the results with measures of comorbid anxiety/depression. Patients completed self-administrable questionnaires about sleep quality (Pittsburgh Sleep Quality Index-PSQI) and psychological symptoms (Beck Depression Inventory, 2nd edition-BDI-II-and Hospital Anxiety and Depression Scale-HADS-subscales "a" and "d" for anxiety and depression, respectively), and reported migraine frequency at baseline and after 12 weeks. The 42 included patients showed a significant reduction in migraine days (from 20.6 ± 6.0 to 13.6 ± 6.2, p < 0.001), while no changes were observed in sleep quality (PSQI score from 11.0 ± 5.0 to 9.8 ± 4.6, p = 0.277) or psychological measures (BDI-II from 16.7 ± 10.2 to 15.7 ± 10.3, p = 0.678; HADS-a from 10.3 ± 4.8 to 9.3 ± 5.5, p = 0.492; and HADS-d from 7.2 ± 3.9 to 7.1 ± 5.0, p = 0.901). On the other hand, a strong correlation among PSQI, BDI-II, HADS-a, and HADS-d scores (p < 0.001, rho > 0.7) was found. Despite its efficacy in migraine prevention, a single session of onabotulinumtoxinA was not able to affect patients' sleep quality or their psychological symptoms.
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Toxinas Botulínicas Tipo A , Transtornos de Enxaqueca , Humanos , Qualidade do Sono , Toxinas Botulínicas Tipo A/efeitos adversos , Transtornos de Enxaqueca/tratamento farmacológico , Extremidade SuperiorRESUMO
The cluster headache is a primary headache characterized by attacks of unilateral pain associated with ipsilateral cranial autonomic features. These attacks recur in clusters during the years alternating with periods of complete remission, and their onset is often during the night. This annual and nocturnal periodicity hides a strong and mysterious link among CH, sleep, chronobiology and circadian rhythm. Behind this relationship, there may be the influence of genetic components or of anatomical structures such as the hypothalamus, which are both involved in regulating the biological clock and contributing even to the periodicity of cluster headaches. The bidirectional relationship manifests itself also with the presence of sleep disturbances in patients affected by cluster headaches. What if the key to studying the physiopathology of such disease could rely on the mechanisms of chronobiology? The purpose of this review is to analyze this link in order to interpret the pathophysiology of cluster headaches and the possible therapeutic implications.
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Objectives: Fibromyalgia (FM) is characterized by spontaneous chronic widespread pain in combination with hyperalgesia to pressure stimuli. Sound-induced flash illusions (SIFIs) reflect cross-modal interactions between senses allowing to assess a visual cortical hoerexcitability (VCH) by evaluating the fission and fusion illusions disruption. The aims of the present study were to explore whether SIFIs are perceived differently in patients with fibromyalgia as compared to healthy controls (HCs) and how migraine affects fission and fusion illusions in fibromyalgia. Methods: A single flash (F) accompanied by 0 to 4 beeps (B) was presented to induce the fission illusion while multiple flash (i.e., 2 to 4) accompanied by 0 or 1 beep was presented to induce fusion illusion. The mean number of perceived flashes in fission and fusion illusion trials was compared between the groups (i.e., FM, FM with migraine, and HCs) using repeated-measures analysis of variance. Medication history was recorded along with the administration of Fibromyalgia Impact Questionnaire and Hospital Anxiety and Depression scales. Results: Twenty-four patients with FM (mean age 51, 2 ± 10, 6 years; 22 females), seventeen patients with FM and migraine without aura (mean age 47.8 ± 11.4 years; 16 females; 13 chronic, 4 episodic migraine), and forty-one age- and sex-matched HCs (mean age 47.3 ± 6.9 years; 34 females) participated in the study. Fission and fusion illusory effects were detected in all the participants. However, in FM patients, the fission illusion was reduced and almost abolished as compared to HCs (1F1B, p = 0.02; 1F2B, p < 0.0001; 1F3B, p < 0.0001; 1F4B, p = 0.0001), while there were no differences between groups in fusion trials. Migraine did not affect the fission and the fusion illusions. Conclusion: Results from this study confirm that patients with FM have a VCH suggesting that the pathological changes in cortical excitability might have important roles in the pathophysiology of FM. SIFI represents a noninvasive behavioral tool for the exploration of cross-sensory functional interplay.
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Fibromialgia , Ilusões , Transtornos de Enxaqueca , Estimulação Acústica/métodos , Adulto , Ansiedade , Percepção Auditiva/fisiologia , Feminino , Humanos , Ilusões/fisiologia , Recém-Nascido , Pessoa de Meia-Idade , Estimulação Luminosa/métodosRESUMO
Purpose: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, and characterized by a multisystemic disease affecting the sensorimotor and autonomic functions along with other organs. Materials and Methods: All the patients were assessed by complete neurological assessment, neurophysiological evaluation, of the median nerve, and handgrip analysis. The data are presented as means and standard deviations. Parametric and non-parametric assessments have been performed to identify differences between groups. Pearson's correlation has been carried out when appropriate. Results: Twenty patients with ATTRv (66.1 ± 8.4 years; eight females) and 30 controls (61.1 ± 11.6 years; 16 females) were enrolled. Handgrip strength was reduced in patients with ATTR in both right and left hands compared to the controls. Significant differences were found between patients and controls in the right (handgrip right, HGSR TTR 21.1 ± 13 kg vs. HGSR Control 29.4 ± 11.3 kg, p = 0.017) and left (handgrip left, HGSL TTR 22.2 ± 10.7 kg. vs. HGSL Control 31 ± 11.3 kg, p = 0.007). NIS and CMAP amplitude of the median nerve were related to HGS measures for both hands in patients with ATTRv. Conclusions: The progression of bilateral carpal tunnel syndrome is related to neurophysiological data in the median nerve in ATTRv. Also, handgrip measures might represent an important tool for the assessment of disease progression in ATTRv. We propose using a combination of CMAP amplitude and HGS for the assessment of hand motor strength in ATTRv.
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Hirayama disease (HD) is a rare, benign, and nonprogressive motor neuron disease (MND) affecting the upper limbs. It usually presents with weakness and amyotrophy in a single upper extremity with an insidious onset between adolescence and the third decade of life. Since its description in 1959, HD has been known under several names and eponyms in Europe and in Asian countries probably due to its heterogeneous clinical features. Thus, the unclear nosological classification makes challenging the differential diagnosis between HD and other neuromuscular conditions, such as MNDs. However, apart from the nosological difficulties and the lack of evidence-based guideline for diagnosis, the neuroimaging is the mainstay for the diagnosis of HD. Indeed, the specific findings on cervical flexion MRI usually lead to a prompt diagnosis. Here, we reviewed the nosological classifications of HD and its neuroimaging features. Also, we report a case of a 18-year-old boy who presented to our Clinic complaining of muscle weakness of the left distal upper limb without other neurological signs. The cervical MRI, in the neutral position, revealed a high T2 signal intensity in the C5-C7 cervical myelomeres as well as the loss of cervical lordosis, whereas, during neck flexion, it showed the anterior displacement of the posterior dura ad the post-gadolinium T1-weighted imaging enhancement of the posterior epidural plexus. These findings are typical for HD allowing the diagnosis as well as the differential diagnosis from other neuromuscular diseases.
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Atrofias Musculares Espinais da Infância , Adolescente , Humanos , Imageamento por Ressonância Magnética , Masculino , Pescoço , Neuroimagem , Atrofias Musculares Espinais da Infância/diagnóstico por imagemRESUMO
BACKGROUND AND AIMS: Patients with Myasthenia gravis (MG) are considered vulnerable as they may present with respiratory muscle weakness and because they are on immunosuppressive treatment; thereby, COVID-19 may have a detrimental effect on these patients. Vaccines against COVID-19 are currently available and it has been shown as they can prevent severe COVID-19 in vulnerable patients. Notwithstanding their efficacy, vaccine hesitancy has not been completely dispelled in the general population. Unfortunately, there is limited data about the safety of these vaccines in MG patients. The aims of this study are to evaluate the impact of COVID-19 in a MG cohort, the adherence to COVID-19 vaccination in Italy and vaccine safety in MG patients. METHODS: A retrospective cohort study of MG patients attending the Neuromuscular Clinic of the University Hospital "Paolo Giaccone" of Palermo, Italy, was performed. Patients underwent telephone interviews with a dedicated questionnaire on SARS-CoV-2 vaccination and infection. Vaccine safety was assessed though the evaluation of vaccine-related adverse events (AEs) and comparisons of MG-ADL scores before and after vaccination. Patient worsening was defined as two or more point increases in MG-ADL scores. RESULTS: From a total of 90 participants, 75 answered the questionnaire and 70.5% of them (n = 53) received the vaccine; ten patients did not receive vaccination and 3 patients were partially vaccinated. Among the vaccinated patients, about 45% (n = 24) experienced at least one AE, with a complete resolution within one week. No serious AEs and life-threatening conditions were observed. Globally, MG-ADL scores did not worsen after vaccination. Nine unvaccinated patients experienced SARS-CoV2 infection and four of them (44%) died-one patient required respiratory support, whereas three patients were asymptomatic. CONCLUSIONS: COVID-19 significantly impacted MG patients with an increase in mortality due to respiratory sequelae. Vaccines against SARS-CoV-2 showed good short-term safety in MG patients, who may take advantage of vaccination to avoiding life-threatening complications such as COVID-19 pneumonia.
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INTRODUCTION: Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) have recently been proposed as promising biomarkers in different immune-mediated disorders. We evaluated the plasma levels of MMP-9 and MMP-2 and their tissue inhibitors TIMP-1 and TIMP-2 in a patients' cohort with generalized myasthenia gravis (MG). METHODS: Plasma concentrations of MMP-9, MMP-2, TIMP-1 and TIMP-2 were evaluated in 14 patients with generalized MG and 13 age- and sex-matched healthy controls. The severity of disease was assessed by the modified Osserman classification. RESULTS: Compared to the healthy subjects, MG patients had increased plasma concentrations of MMP-9, but reduced plasma levels of MMP-2 and TIMP-1. MG patients also showed a positive correlation between MMP-2 concentrations and disease severity. An increase in MMP-9 levels and MMP-9/TIMP-1 ratio and a decrease in MMP-2 levels and MMP-2/TIMP-2 ratio were detected in patients with generalized MG. Higher levels of MMP-2 correlated with greater disease severity. DISCUSSION: Our preliminary findings suggest that MMPs and TIMPs could play a role in the pathogenesis of MG and might be associated with the risk of clinical deterioration.
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The median-to-ulnar communicating branch (MUC) is an asymptomatic variant of the upper limb innervation that can lead to interpretation errors in routine nerve conduction studies. The diagnosis of carpal tunnel syndrome (CTS) or ulnar nerve lesions can be complicated by the presence of MUC. In this study, we describe electrophysiological features of MUC in CTS patients presenting to our clinic. We enrolled MUB cases from consecutive CTS patients referred to our laboratory between the years 2014 and 2019. MUC was present in 53 limbs (36 patients) from the studied population. MUC was bilateral in 53% of patients. MUC type II was the most common subtype (74%), followed by types III and I; more coexisting MUC types were found in the majority of tested limbs. A positive correlation was demonstrated between the severity of CTS and the presence of positive onset, faster CV, or a double component of the compound muscle action potentials. We emphasize the importance of suspecting the presence of MUC in CTS in the presence of a positive onset or a double component in routine motor conduction studies.
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Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.
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BACKGROUND: Quarantine was the measure taken by governments to control the rapid spread of COVID-19. This restriction resulted in a sudden change in people's lifestyle, leading to an increase in sedentary behavior and a related decrease in the practice of physical activity (PA). However, in neuromuscular diseases patients need to perform regular PA to counteract the negative consequences of the disease. Hence, the aim of this study was to estimate the levels of PA, measured as energy expenditure (MET-minute/week), among patients with neuromuscular disease (NMD) before and during the last week of quarantine. METHODS: A total of 268 Italian subjects, living in Sicily, completed an adapted version of the IPAQ-SF. Participants comprised 149 NMD, enrolled at the Neuromuscular Clinic of Palermo and 119 healthy subjects (control group). The SF-12 questionnaire was also administered to NMD. The Mann-Whitney U and the Kruskal-Wallis rank-sum tests were used for statistical analyses. RESULTS: We observed a significant decrease of the total weekly PA level during COVID-19 quarantine in both patients and controls. Moreover, a significant difference in the total weekly PA level was found depending on the presence of neuromuscular disease, impaired walking, gender and BMI. Finally, we found a correlation between SF-12 scores and the entity of the reduction of PA level during quarantine, thus confirming a relevant association with the quality of life in NMD. CONCLUSION: Our study confirmed that COVID-19 quarantine has affected the practice of PA among both NMD and healthy controls.
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COVID-19 , Exercício Físico , Doenças Neuromusculares , Qualidade de Vida , Quarentena , Adulto , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , SARS-CoV-2 , Sicília , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The restrictions taken to control the rapid spread of COVID-19 resulted in a sudden, unprecedented change in people's lifestyle, leading to negative consequences on general health. This study aimed to estimate the impact of such changes on migraine severity during 2020 March-May lockdown. METHODS: Patients affected by migraine with or without aura, diagnosed by expert physicians, completed a detailed interview comprehensive of: assessment of migraine characteristics; measure of physical activity (PA) levels; measure of the intake frequency of main Italian foods; the Insomnia Severity Index (ISI) questionnaire investigating sleep disorders. RESULTS: We included 261 patients with a mean age of 44.5 ± 12.3 years. During social distancing, 72 patients (28%) reported a headache worsening, 86 (33%) an improvement, and 103 (39%) a stable headache frequency. A significant decrease of the PA levels during COVID-19 quarantine in the whole study sample was observed (median total metabolic equivalent task (METs) decreased from 1170 to 510; p < 0.001). Additionally, a significant difference was reported on median ISI scores (from 7 to 8; p < 0.001), which were increased in patients who presented a stable or worsening headache. CONCLUSIONS: Our study confirmed that the restrictions taken during the pandemic have affected the practice of PA levels and sleep quality in migraine. Hence, PA and sleep quality should be assessed to find strategies for an improvement in quality of life.
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COVID-19/epidemiologia , Transtornos de Enxaqueca/epidemiologia , Distanciamento Físico , Adulto , Controle de Doenças Transmissíveis/métodos , Exercício Físico , Comportamento Alimentar , Cefaleia/epidemiologia , Humanos , Itália/epidemiologia , Estilo de Vida , Pessoa de Meia-Idade , Qualidade de Vida , Quarentena , SARS-CoV-2 , Sono , Transtornos do Sono-Vigília/epidemiologia , Inquéritos e QuestionáriosRESUMO
We used Motor Evoked Potentials (MEPs), elicited by transcranial magnetic stimulation, for assessing a motor pathways dysfunction in a selected group of Multiple Sclerosis (MS) patients, without limitation in walking. We selected 32 Relapsing Remitting MS patients, in remission phase, with EDSS < or = 3.5 and 20 healthy individuals with similar height and age distribution. We measured the following MEP parameters: motor thresholds; central motor conduction time (CMCT); amplitude and area, both expressed as MEP/CMAP ratio. Patients were divided into two groups according to the EDSS score: non-disabled group (ND; EDSS 0-1.5) and disabled group (D; EDSS 2-3.5). Mean average MEP values were significantly different in the patients compared with the controls. Even in MS patients with no or minor neurological signs (ND group), MEP parameters showed differences from controls and furthermore all MEP parameters were significantly different in the D group compared with the ND group. The 75% of the patients had an amplitude or area alteration; this percentage was significantly higher than the percentage of patients with a CMCT alteration (56.2%). In addition, CMCT increase was always associated with reduced amplitude and area, but amplitude and area alterations were present also in patients with normal CMCT. In early stages of MS, the higher percentage shown in alteration of MEP amplitudes and areas as opposed to CMCTs has not previously been highlighted in the literature. Independently of its pathogenesis (demyelination or axonal loss), the amplitude or area decrease should be considered in clinical trials and in follow-up studies, as a marker of the motor pathways dysfunction, at least as much as CMCT increase.
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Potencial Evocado Motor/fisiologia , Esclerose Múltipla/fisiopatologia , Tempo de Reação/fisiologia , Caminhada , Adulto , Estudos de Casos e Controles , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Condução Nervosa/efeitos da radiação , Tempo de Reação/efeitos da radiação , Estudos Retrospectivos , Índice de Gravidade de Doença , Estimulação Magnética Transcraniana/métodosRESUMO
OBJECTIVE The purpose of this study was to evaluate the usefulness of ultrasound in the preoperative workup of peripheral nerve lesions and illustrate how nerve ultrasonography can be integrated in routine clinical and neurophysiological evaluation and in the management of focal peripheral nerve injuries. The diagnostic role and therapeutic implications of ultrasonography for different neuropathies are described. METHODS The authors analyzed the use of ultrasound in 119 entrapment, tumoral, posttraumatic, or postsurgical nerve injuries of limbs evaluated in 108 patients during 2013 and 2014. All patients were candidates for surgery, and in all cases the evaluation included clinical examination, electrodiagnostic studies (nerve conduction study and electromyography), and ultrasound nerve study. Ultrasound was used to explore the nerve fascicular echotexture, continuity, and surrounding tissues. The maximum cross-sectional area (CSA) and the presence of epineurial hyperechogenicity or intraneural hyper- or hypoechogenicity, of anatomical anomalies, dynamic nerve dislocations, or compressions were recorded. The concordance rate of neurophysiological and ultrasonographic data was analyzed, classifying ultrasound findings as confirming, contributive, or nonconfirming with respect to electrodiagnostic data. The correlation between maximum nerve CSA and neurophysiological severity degree in entrapment syndromes was statistically analyzed. RESULTS Ultrasonography confirmed electrodiagnostic findings in 36.1% of cases and showed a contributive role in the diagnosis and surgical planning in 53.8% of all cases; the findings were negative ("nonconfirming") in only 10.1% of the patients. In 16% of cases, ultrasound was not only contributive, but had a key diagnostic role in the presence of doubtful electrodiagnostic findings. The contributive role differed according to etiology, being higher for tumors (100%) and for posttraumatic or postsurgical neuropathies (72.2%) than for entrapment neuropathies (43.8%). CONCLUSIONS Ultrasound is a powerful, noninvasive tool for the examination of peripheral nerve injuries, and can guide diagnosis of and surgical strategy for focal peripheral nerve injuries. It allows direct visualization of the cause and extent of nerve lesions and finds its place between electrodiagnostic tests and exploratory surgery. It can provide invaluable information, such as the presence and extent of a mass, scar compression, or neuromas. The authors recommend it as a complement to routine clinical and neurophysiological evaluation and as the first-line imaging modality for masses of suspected nerve origin.