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Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA patients (SMA types 3 and 4), aged between 7 and 41 years, were clinically evaluated through the Hammersmith Motor Functional Scale Expanded and the Spinal Muscular Atrophy-Functional Rating Scale. The patients underwent compound motor action potential (CMAP) and MUNIX studies of the right abductor pollicis brevis, abductor digiti minimi and tibialis anterior (TA) muscles. Age-matched healthy controls (n = 20) were enrolled to obtain normative CMAP and MUNIX values from the same muscles. Compared to healthy controls, SMA patients showed significant reductions in MUNIX values among all muscles studied, whereas CMAP showed reductions only in the weaker muscles (abductor digiti minimi and TA). MUNIX variability was significantly higher in the SMA group than in the control group. MUNIX variability in TA correlated with CMAP variability. Motor functional scores correlated with TA MUNIX. The MUNIX study is feasible in later-onset SMA patients, and TA MUNIX values correlate with disease severity in patients with mild motor impairment.

Background Few prospective studies in cutaneous and systemic lupus erythematosus (CLE/SLE) assessed thalidomide-induced peripheral neuropathy (TiPN) incidence/reversibility, and most have not excluded confounding causes neither monitored thalidomide plasma levels. Objectives To evaluate TiPN incidence/reversibility, coasting effect and its association with thalidomide plasma levels in CLE/SLE. Methods One-year prospective study of thalidomide in 20 CLE/SLE patients without pregnancy potential, with normal nerve conduction study (NCS), and excluded other PN causes. Thalidomide levels were determined by high-performance liquid chromatography/tandem mass spectrometry. Results Twelve patients (60%) developed TiPN: 33.3% were symptomatic and 66.6% asymptomatic. Half of this latter group developed coasting effect (TiPN symptoms 1-3 months after drug withdrawal). The main predictive factors for TiPN were treatment duration ≥6 months (p = 0.025) and cumulative dose (p = 0.023). No difference in plasma thalidomide levels between patients with/without TiPN was observed (p = 0.464). After drug withdrawal, 75% symptomatic TiPN patients improved their symptoms. Seven TiPN patients underwent an additional NCS after drug withdrawal: 42.8% worsened NCS, 14.2% was stable, and 42.8% had improved NCS. Conclusion Our data provides novel evidence of coasting effect in half of asymptomatic patients with TiPN. The irreversible nature of this lesion in 25% of TiPN patients reinforces the relevance of early NCS monitoring, and suggests thalidomide use solely as a bridge for other effective therapy for refractory cutaneous lupus patients.

OBJECTIVENerve transfers are commonly used in treating complete injuries of the brachial plexus, but donor nerves are limited and preferentially directed toward the recovery of elbow flexion and shoulder abduction. The aims of this study were to characterize the anatomical parameters for identifying the nerve to the levator scapulae muscle (LSN) in brachial plexus surgery, to evaluate the feasibility of transferring this branch to the suprascapular nerve (SSN) or lateral pectoral nerve (LPN), and to present the results from a surgical series.METHODSSupra- and infraclavicular exposure of the brachial plexus was performed on 20 fresh human cadavers in order to measure different anatomical parameters for identification of the LSN. Next, an anatomical and histomorphometric evaluation of the feasibility of transferring this branch to the SSN and LPN was made. Lastly, the effectiveness of the LSN-LPN transfer was evaluated among 10 patients by quantifying their arm adduction strength.RESULTSThe LSN was identified in 95% of the cadaveric specimens. A direct coaptation of the LSN and SSN was possible in 45% of the specimens (n = 9) but not between the LSN and LPN in any of the specimens. Comparison of axonal counts among the three nerves did not show any significant difference. Good results from reinnervation of the major pectoral muscle (Medical Research Council grade ≥ 3) were observed in 70% (n = 7) of the patients who had undergone LSN to LPN transfer.CONCLUSIONSThe LSN is consistently identified through a supraclavicular approach to the brachial plexus, and its transfer to supply the functions of the SSN and LPN is anatomically viable. Good results from an LSN-LPN transfer are observed in most patients, even if long nerve grafts need to be used.

Purpose: Self-biting behavior in patients with neonatal brachial plexus palsy (NBPP) has been associated with finger amputation. Our objective is to describe the incidence of this complication, risk factors, and clinical management.Methods: We retrospectively analyzed 612 patients with NBPP. There were 303 males and 309 females. 51.8% of patients had C5-C6 lesions, 28.9% had C5-C7, 18.9% had C5-T1, and 0.3 had C7-T1 involvement.Results: We identified 15 patients with self-biting behavior (2.5%). Ten patients had C5-T1 lesions, and five had C5-C7 lesions. Eight patents were submitted to brachial plexus surgery and seven were not. This behavior appeared between 8 and 46 months of life (mean 23.5), and it was always temporary. There was no difference between operated and non-operated patients (p > 0.05), and no correlation between age at surgery and age of appearance of self-biting behavior (p > 0.05). Physical restriction was effective in treating this complication and we had no case of finger amputation.Conclusion: Self-biting behavior is a rare complication of NBPP, and it is usually associated with severe motor involvement. The behavior duration is limited to a few months. This condition can be effectively treated with physical restriction to prevent hand biting.

True neurogenic thoracic outlet syndrome (TNTOS) is rare, and evaluation of surgical treatment is limited to a few studies in the literature. The purpose of this study is to present the results from a surgical series of 21 patients with TNTOS.Retrospective analysis on 21 patients diagnosed with TNTOS who underwent surgery. Demographic data and neurological status were characterized, and patients were classified in accordance with a pre-established scale for assessing the severity of hand impairment before and after surgery. Neuropathic pain was assessed using a visual analogue scale (VAS) and functional disability was quantified using the QuickDASH questionnaire. The results from before and after surgery were compared using the Wilcoxon test, and the significance level was taken to be 5%.There was a significant difference in VAS values from before to after the operation (Wilcoxon test: p = 0.0001; r = 0.86). Most patients (90%) improved after surgery, and in 85% of these patients, the VAS improvement was greater than 50%. Improvement in hand function occurred in seven patients (33.3%), and in most of these cases (28.6%), this improvement was classified as mild. Most patients (93.3%) showed moderate to very severe functional disability at the end of the follow-up.After surgery, only one-third of the cases showed improvement in motor function and most patients had significant functional disability. However, the improvement regarding pain was significant. Surgery to control this symptom should be recommended, even in cases of late presentation and severe motor impairment.

Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

This historical review presents the relevant data about the evolution of the surgical treatment of neonatal brachial plexus palsy. Starting with the first clinical description by Smellie in 1754, we will present the initial enthusiasm for the surgery followed by a lack of interest that lasted many years, the resurgence of interest in operative management in the 1970s, and the consolidation in the 1980s of surgery as the standard indication in cases of neonatal brachial plexus palsy without a functional spontaneous recovery.

Long-term evaluation of hand function in children who underwent transfer procedures to reinnervate the biceps muscle, using fascicles from the ulnar and median nerves as donors. In the last follow-up evaluation, the children underwent a neurological examination, and their hand status was classified according to the Raimondi grading system for hand function. Two physical measurements, the child health assessment questionnaire (CHAQ) and the Sollerman hand function test, were applied to assess upper extremity function. Eight children were re-evaluated. In four the donor fascicle was from the ulnar nerve and in four from the median nerve. The average interval between surgery and the last evaluation was 8.3 years (range 6–10 years). Five patients scored 5 points in the Raimondi grading system, and 3 patients scored 4 points. The results from the CHAQ ranged from 0.03 to 0.41. The results from the Sollerman test were between 60 and 77 for the affected upper limb and between 65 and 79 for the dominant upper limb. Nerve transfer of a fascicle from the ulnar or median nerve to the biceps motor branch in children with neonatal brachial plexus palsy does not result in hand dysfunction.

Objectives To present phenotype features of a large cohort of congenital myasthenic syndromes (CMS) and correlate them with their molecular diagnosis. Methods Suspected CMS patients were divided into three groups: group A (limb, bulbar or axial weakness, with or without ocular impairment, and all the following: clinical fatigability, electrophysiology compatible with neuromuscular junction involvement and anticholinesterase agents response), group B (limb, bulbar or axial weakness, with or without ocular impairment, and at least one of additional characteristics noted in group A) and group C (pure ocular syndrome). Individual clinical findings and the clinical groups were compared between the group with a confirmed molecular diagnosis of CMS and the group without molecular diagnosis or with a non-CMS molecular diagnosis. Results Seventy-nine patients (68 families) were included in the cohort: 48 in group A, 23 in group B and 8 in group C. Fifty-one were considered confirmed CMS (30 CHRNE, 5 RAPSN, 4 COL13A1, 3 DOK7, 3 COLQ, 2 GFPT1, 1 CHAT, 1 SCN4A, 1 GMPPB, 1 CHRNA1), 7 probable CMS, 5 non-CMS and 16 unsolved. The chance of a confirmed molecular diagnosis of CMS was significantly higher for group A and lower for group C. Some individual clinical features, alterations on biopsy and electrophysiology enhanced specificity for CMS. Muscle imaging showed at least mild alterations in the majority of confirmed cases, with preferential involvement of soleus, especially in CHRNE CMS. Conclusions Stricter clinical criteria increase the chance of confirming a CMS diagnosis, but may lose sensitivity, especially for some specific genes.

Background Thalidomide has shown exceptional results in systemic/cutaneous lupus erythematosus(SLE/CLE). Recently, lenalidomide has been also prescribed for SLE/CLE treatment. Literature regarding efficacy/adverse events for these drugs is scarce with a single systematic review and meta-analysis focused solely on thalidomide for refractory cutaneous lupus subtypes. Objective We, therefore, addressed in this narrative review the efficacy/adverse effects of thalidomide and lenalidomide for SLE and CLE. In addition, we provide a specialist approach for clinical practice based on the available evidence. Results Efficacy of thalidomide for refractory cutaneous lupus treatment was demonstrated by several studies, mostly retrospective with small sample size(≤20). The frequency of peripheral polyneuropathy is controversial varying from 15-80% with no consistent data regarding cumulative dose and length of use. Drug withdrawn results in clinical partial/complete reversibility for most cases (70%). For lenalidomide, seven studies (small sample sizes) reported its efficacy for SLE/CLE with complete/partial response in all patients with a mean time to response of 3 months. Flare rate varied from 25-75% occurring 0.5-10 months after drug withdrawn. There were no reports of polyneuropathy/worsening of previous thalidomide-induced neuropathy, but most of them did not perform nerve conduction studies. Teratogenicity risk exist for both drugs and strict precautions are required. Conclusions Thalidomide is very efficacious as an induction therapy for patients with severe/refractory cutaneous lupus with high risk of scarring, but its longstanding use should be avoided due to neurotoxicity. Lenalidomide is a promising drug for skin lupus treatment, particularly regarding the apparent lower frequency of nerve side effects.

Background: Although reinnervation of the suprascapular nerve is frequently obtained through brachial plexus surgery, reestablishment of infraspinatus muscle function is rarely achieved.Methods: Th...

Context: The understanding of neuromuscular manifestations secondary to infection by SARS-CoV-2 is scarce. Peripheral neuropathies are a heterogeneous group of diseases affecting the peripheral nervous system, with a variable motor, sensitive and autonomic involvement. There are recent descriptions of atypical patterns of neuropathies after COVID-19. In this study we aim to report a brachial plexopathy secondary to COVID-19 with its clinical and electrophysiological characterization. We performed a cross-sectional, observational, descriptive, case report type, using medical record review. Case report: A 42 year-old female was hospitalized for 2 months due to severe respiratory syndrome due to COVID-19. She remained in the ICU for 20 days. During her stay in the ward she complained of weakness and pain in his right upper limb. Physical examination revealed weakness in the right shoulder abduction and elbow flexion. Nerve conduction studies demonstrated involvement of the upper trunk of the right brachial plexus. There was no report of trauma. Her BMI was 50 kg/m2. Conclusions: Recent studies bring atypical descriptions of focal neuropathies, multiple mononeuropathies and plexopathies, opening a new field of study in addition to the description of neuromuscular weakness following ICU stay after COVID-19. From an electrophysiological point of view, there is a recent interest in better characterization of patients with axonal neuropathies suggesting a possible vasculitic mechanism of neuronal damage after COVID-19. Further investigations are necessary to improve the characterization of this particular group, helping its diagnosis and early treatment to reduce complications and disabilities.

Objectives: Making the diagnosis of root avulsion in traumatic brachial plexus injuries is important but sometimes difficult. The histamine test for differentiating between pre- and post-ganglionic lesions is a simple, fast and low-cost procedure. We conducted a study on patients with traumatic brachial plexus injury in order to evaluate the effectiveness of this test. Patients and methods: A total of 60 patients were initially evaluated. The subjects underwent clinical examination, myelo-CT and myelo-MRI, as well as the histamine test. The latter was applied to dermatomes C5 to T1, and occurrences of secondary neurogenic erythema were noted. The results were compared with surgical and imaging findings. Results: No statistical significance could be found for C5 and C6 roots, compared with surgical evaluation. The results for C5 showed that this may be useful for determining avulsion. Although significant results were found between the histamine test and imaging findings for all roots except for C6, the specificity of 0% for C8 and T1 is not helpful in clinical practice. Conclusion: Histamine test seems to be useful for C5 root assessment, since neurophysiological assessment of that root is difficult. There was no significance for C6 root and disappointing specificity for the C8-T1 level. Keywords: Brachial plexus injuries, Nerve root avulsion, Neurogenic inflammation

Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: KCNQ2 and KCNA1. Patients with KCNQ2 gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. We report a woman with marked facial myokymia and distal upper limb contractures whose mother also had subtle facial myokymia; both had the c.G620A (p.R207Q) variant in the KCNQ2 gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for KCNQ2 variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels.

A 41-year-old woman presented with progressive fluctuating lower limb weakness, urinary incontinence, and dry eyes and mouth. Physical examination revealed proximal flaccid tetraparesis (Medical Research Council 4). The patellar reflex was absent, but with postexercise facilitation (video 1). Eyelid and eye movements were normal. Electroneuromyography revealed a presynaptic neuromuscular junction disorder (figure). Antibodies to anti-voltage-gated calcium channels were positive. Periodic cancer screening, including whole-body FDG-PET, was negative during 2 years of follow-up. These findings were consistent with nonparaneoplastic Lambert-Eaton myasthenic syndrome.1 The patient had a good response to IV immunoglobulin. The presence of ascending muscle weakness, autonomic dysfunction, and postexercise facilitation of reflexes should raise suspicion for the diagnosis.

Objective: Restoration of the sensitivity to sensory stimuli in complete brachial plexus injury is very important. The objective of our study was to evaluate sensory recovery in brachial plexus surgery using the intercostobrachial nerve (ICBN) as the donor. Methods: Eleven patients underwent sensory reconstruction using the ICBN as a donor to the lateral cord contribution to the median nerve, with a mean follow-up period of 41 months. A protocol evaluation was performed. Results: Four patients perceived the 1-green filament. The 2-blue, 3-purple and 4-red filaments were perceptible in one, two and three patients, respectively. According to Highet's scale, sensation recovered to S3 in two patients, to S2+ in two patients, to S2 in six patients, and S0 in one patient. Conclusion: The procedure using the ICBN as a sensory donor restores good intensity of sensation and shows good results in location of perception in patients with complete brachial plexus avulsion. RESUMO Objetivo: A restauração da sensibilidade em pacientes com lesão completa do plexo braquial é muito importante. O objetivo desse estudo foi avaliar a recuperação sensitiva em cirurgia do plexo braquial utilizando o nervo intercostobraquial (NICB) como doador. Métodos: Onze pacientes foram submetidos a reconstrução sensitiva usando o NICB como doador para a contribuição lateral do nervo mediano, com tempo de acompanhamento pós-operatório médio de 41 meses. Um protocolo de avaliação foi realizado. Resultados: Quatro pacientes perceberam o filamento 1-verde. Os filamentos 2-azul, 3-roxo e 4-vermelho foram percebidos por um, dois e três pacientes, respectivamente. Um paciente não apresentou recuperação sensitiva. Dois pacientes obtiveram recuperação S3, dois S2+, seis S2 e um S0, pela escala de Highet. Conclusão: O procedimento usando o NICB como doador promove boa intensidade de recuperação sensitiva e bons resultados são obtidos quanto ao local de percepção em pacientes com avulsão completa do plexo braquial.

The treatment of complete post-traumatic brachial plexus palsy resulting in a flail shoulder and upper extremity remains a challenge to peripheral nerve surgeons. The option of upper limb amputation is controversial and scarcely discussed in the literature. We believe that elective amputation still has a role in the treatment of select cases. The pros and cons of the procedure should be intensely discussed with the patient by a multidisciplinary team. Better outcomes are usually achieved in active patients who strongly advocate for the procedure.Keywords: brachial plexus neuropathies; amputation; upper extremity; artificial limbs RESUMO O tratamento das paralisias completas apos lesoes traumaticas do plexo braquial que resultam em um membro superior completamente paralisado permanecem como um desafio aos cirurgioes de nervos perifericos. A opcao de amputar o membro superior e controversa e raramente discutida na literatura. Acreditamos que a amputacao eletiva ainda tem utilidade no tratamento de casos selecionados. Os pros e contras do procedimento devem ser intensamente discutidos com o paciente por uma equipe multidisciplinar. Os melhores resultados sao geralmente obtidos em pacientes atuantes que reivindicam vigorosamente o procedimento.Palavras-chave: neuropatias do plexo braquial; amputacao; extremidade superior; dor por deaferentacao; membros artificiais

Ulnar and median nerve transfers to arm muscles have been used to recover elbow flexion in infants with neonatal brachial plexus palsy, but there is no direct outcome comparison with the classical supraclavicular nerve grafting approach. We retrospectively analyzed patients with C5-C7 neonatal brachial plexus palsy submitted to nerve surgery and recorded elbow flexion recovery using the active movement scale (0–7) at 12 and 24 months after surgery. We compared 13 patients submitted to supraclavicular nerve grafting with 21 patients submitted to distal ulnar or median nerve transfer to biceps motor branch. We considered elbow flexion scores of 6 or 7 as good results. The mean elbow flexion score and the proportion of good results were better using distal nerve transfers than supraclavicular grafting at 12 months (p

Background: Shoulder stability, abduction and external rotation are vital for the performance of usual daily tasks. Aims: To compare the functional outcomes in the shoulder following spinal accessory to suprascapular nerve transfer (SASNT). Patients and Methods: Comparison of the outcome of adult patients with upper traumatic brachial plexus palsy undergoing SASNT with patients with complete palsy submitted to the same procedure. Statistical Analysis: Ranges of motion were compared via the Mann-Whitney U test. The percentages of patients with a favorable outcome were compared by the chi-square test. All tests were two-tailed and P values Results: SASNT was performed in 76 patients: 23 cases (30.2%) of upper-plexus injuries and 53 cases (69.7%) of complete brachial plexus palsy. Good shoulder abduction was achieved in 15 patients (65.2%) with upper plexus palsy and a good external rotation in 5 (21.7%). In those patients with a good recovery, the average range of motion (ROM) was 53° for shoulder abduction and 71.2° for external rotation. Thirty-six patients (67.9%) with complete palsy had a good shoulder abduction recovery with 30.7° of average ROM, but only 3 patients (5.6%) recovered a good shoulder external rotation with 68.3° of average ROM. There was no statistical difference for the abduction outcome, but the external rotation outcome was superior in the upper plexus palsy group. Conclusion: SASNT is a consistent procedure to achieve functional recovery of shoulder abduction after a partial or complete plexus injury, but the outcomes of external rotation were quite disappointing in both the groups.

Background: Pain threshold evaluation in compressive neuropathy is very useful for explainig generalized symptoms. About peripheral sensitization process in the release of bradykinin and prostaglandin alters specific TRPV1 receptors leading to reduction of nerve fiber firing threshold. This repetition leads to a brain receptive field expansion with consequent central sensitization. Methods: We have evaluated 160 female subdivided according to the neurophysiologic impairment of median nerve. Pressure algometry as well as discriminatory sensitivity between two points and The Boston Questionnaire were applied. Results: The comparison of algometry data showed extremely significant differences between control group and another groups. Therefore, pain thresholds showed direct relation to mononeuropathy severity to a certain point. When sensory or motor potential were no longer obtained, painful thresholds returned close to normal values. We suggest this result could be due to small fibers destruction, when hyperalgesia would be replaced by hypoesthesia. Conclusion: Pain threshold is lower in patients with carpal tunnel syndrome, either the median nerve innervated area or another areas.

Leprosy neuropathy is dependent on the patient's immune response and expresses itself as a focal or multifocal neuropathy with asymmetric involvement. Leprosy neuropathy evolves chronically but recurrently develops periods of exacerbation during type 1 or type 2 reactions, leading to acute neuropathy. Nerve enlargement leading to entrapment syndromes is also a common manifestation. Pain may be either of inflammatory or neuropathic origin. A thorough and detailed evaluation is mandatory for adequate patient follow-up, including nerve palpation, pain assessment, graded sensory mapping, muscle power testing, and autonomic evaluation. Nerve conduction studies are a sensitive tool for nerve dysfunction, including new lesions during reaction periods or development of entrapment syndromes. Nerve ultrasonography is also a very promising method for nerve evaluation in leprosy. The authors propose a composite nerve clinical score for nerve function assessment that can be useful for longitudinal evaluation.

The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, we aimed to verify the frequency of this mutation among individuals with CMS in a larger cohort of CMS patients from different areas of Brazil and to characterize clinical features of these patients. Eighty-four patients with CMS, from 72 families, were clinically evaluated and submitted to direct sequencing of the exon 2 of CHRNE. The c.130dupG mutation was found in 32 patients (23 families), with 26 patients (19 families, 26.3%) in homozygosis, confirming its high prevalence in different regions of Brazil. Among the homozygous patients, the following characteristics were frequent: onset of symptoms before 2 years of age (92.3%), little functional restriction (92.3%), fluctuating symptoms (100%), ocular muscle impairment (96.1%), ptosis (100%), limb weakness (88.4%), response to pyridostigmine (100%), facial involvement (77%), and bulbar symptoms (70.8%). The pretest probability of finding at least one allele harbouring the c.130dupG mutation was 38.1%. Selecting only patients with impaired eye movement together with limb weakness and improvement with pyridostigmine, the probability increases to 72.2%. This clinical pre-selection of patients is likely a useful tool for regions where CHRNE mutations have a founder effect. In conclusion, the CHRNE mutation c.130dupG leads to fairly benign natural course of the disease with relative homogeneity.

Lessons Learned Pregabalin is a medication that can decrease neuronal hyperexcitability, relieve neuropathic pain, and reach stable plasma levels after a titration period of only a few days. Its use during oxaliplatin infusions was not able to decrease the incidence of chronic, oxalipaltin-related neuropathic pain, compared with placebo. Background Patients with colorectal cancer (CRC) receiving oxaliplatin (OXA) develop acute and chronic painful oxaliplatin-induced peripheral neuropathy (OXAIPN). Acute and chronic OXA-related neuropathies have different pathophysiological bases, but both lead to a common phenomenon: central sensitization (CS) of nociceptive neuronal networks, leading to increased sensitivity (hyperlgesia, allodynia) in the somatosensory system, the common ground of chronic neuropathic pain. Because CS is related to increased risk of painful OXAIPN, we hypothesized that preemptive use of the anti-hyperalgesic drug pregabaline (known to decrease CS) during OXA infusions would decrease the incidence of chronic OXAIPN. Methods Pain-free, chemotherapy-naïve CRC patients receiving at least one cycle of modified-FLOX [5-FU(500 mg/m2)+leucovorin(20 mg/m2)/week for] 6 weeks+oxaliplatin(85 mg/m2) at weeks 1-3-5 every 8 weeks] were randomized (1:1) into the study. Patients received either pregabalin or placebo for 3 days before and 3 days after each OXA infusion and were followed for up to 6 months. Clinical assessments were performed at baseline, at the end of chemotherapy, and after the follow-up period. The main outcome was average pain at the last visit assessed by the visual analogic scale (0–10) item of the Brief Pain Inventory (BPI). Secondary endpoints were presence of neuropathic pain according to the Douleur Neuropathique-4 (DN-4), pain dimensions (short- form McGill Pain Questionnaire [MPQ]), Neuropathic Pain Symptom Inventory (NPSI), and changes in nerve conduction studies (NCS) and side effect profile. Results One hundred ninety-nine patients (57.0 ± 10.7 years old, 98 female, 101 male) were randomized. Data from 56 patients were not included in the analyses (as they did not receive at least one full cycle of modified FLOX). Data from 78 patients in the pregabalin group and 65 patients in the placebo group were retained for analyses. At the last visit, pain intensity in the pregabalin group was 1.03 (95% confidence interval [CI] = 0.79–1.26), and 0.85 (95% CI = 0.64–1.06) in the placebo group, which did not reach significance. Scores from the BPI, MPQ, DN-4, NPSI, and NCS and side-effect profiles and incidence of death did not differ between groups. Quality of life (QoL) score did not differ between groups (placebo = 76.9 ± 23.1, pregabalin group 79.4 ± 20.6). Mood scores were not significantly different between groups (placebo 9.7 [8.1–11.2]; pregabalin 6.8 [5.6–8.0]). Conclusion The preemptive use of pregabalin during OXA infusions was safe, but did not decrease the incidence of chronic pain related to OXAIPN.

Painful neuroma following amputation is a disabling condition for which treatments are not usually satisfactory. The aim of this study is to retrospectively evaluate the results of interdigital neurorrhaphy after neuroma resection as an option for the surgical treatment of painful digital neuroma. We retrospectively analyzed data from seven patients submitted to interdigital neurorrhaphy for treatment of digital neuroma. For evaluation of the results, the visual analog scale (VAS) for pain assessment, measurements with Simmens-Weinstein filaments and a handgrip dynamometer, and quantification of the Disabilities of the Arm, Shoulder and Hand (DASH) score were all performed. The mean improvements on the VAS and DASH scores were calculated. The mean follow-up was 28.3 months. All patients presented some degree of improvement in upper limb functionality and pain, and handling the affected finger was possible in all cases. The mean improvement on the VAS and DASH scores was 29.8 and 55.5 %, respectively. No patients presented long-term complications. Although this study was based on a small number of patients, it indicates that interdigital neurorrhaphy seems to be a feasible surgical treatment for painful digital neuroma.

Introduction Bayesian probabilistic characterization has already been used for quantitative electromyography but not for jitter analysis. Instead of classical statistical method, probabilistic characterization uses sequential cumulative probability. Our objective was to evaluate the performance of probabilistic characterization for jitter assessment. Methods We analyzed 20 controls and 20 patients with serologically confirmed Myasthenia Gravis (MG). All patients were submitted to orbicularis oculi concentric needle voluntary jitter measurements of 20 pairs of ASFAP, adding up 797 MCD measurements. Jitter was characterized in four different levels: A: μ s; B: 25–45 μ s; C: 45–65 μ s; and D: >65 μ s. We calculated the probability of an abnormal result for each jitter level. Then, we used the Bayesian sequential approach in each subject until the cumulative probability of a normal or abnormal result was >99%. Results The probability of abnormality for each jitter level was: A: 20%; B: 73%; C: 95%; and D: 99%. The cumulative probability achieved more than 99% up to the sixth potential in 77% of the subjects. However, one control subject was labeled as abnormal while four MG subjects were labeled as normal studies. Additionally, two control subjects could not be characterized up to the 20th recording. The method accuracy was 82%. Conclusion Probabilistic characterization requires fewer recordings than the statistical method. However, our study showed poor accuracy for jitter characterization. One possible reason is that MCD values in each patient are not randomly scattered during the entire exam, but rather clustered according to the sampled region.

Adult traumatic brachial plexus lesions are devastating injuries. Their real incidence is difficult to ascertain, but are certainly growing due to the increasing number of high-speed motor-vehicle accidents, especially in big cities. Analysis of the epidemiological characteristics of patients with traumatic brachial plexus lesions in Sao Paulo, Brazil, the sixth largest city in the world. This was a retrospective analysis of the epidemiological characteristics of patients submitted to surgical treatment of traumatic brachial plexus lesions in the Peripheral Nerve Surgery Unit of the Department of Neurosurgery of the University of Sao Paulo Medical School. In the period from 2004 to 2012, 406 patients underwent surgery. There were 384 (94.6 %) men and 22 (5.4 %) women. In 45.9 % the compromised plexus was the right and in 54.1 %, the left. The average age was 28.38 years. Among the causes, the most frequent was motorcycle accidents (79 %). Most of the lesions were supraclavicular. In 46.1 % of cases the lesions were complete, in 30.1 % the lesions compromised C5/C6 roots, in 20.9 % the C5/C6/C7 roots were lesioned and in 2.9 % the lesion was in the lower roots, C8/T1. Among the associated lesions the most prevalent were head trauma, observed in 34.2 % of the cases; lesions of long bones in 38.8 %; clavicle fractures in 25.9 %; and thoracic trauma in 12.9 %. In a population of adult patients with brachial plexus lesions with surgical indication, most of them comprise young male adults involved in high-energy motorcycle accidents.

No abstract available