Anti-pan-neurofascin nodopathy: cause of fulminant neuropathy.

Autoimmune nodopathies are inflammatory diseases of the peripheral nervous system with clinical and neurophysiological peculiar characteristics. In this nosological category, we find patients with autoantibodies against Neurofascin 140/186 and 155, Contactin1, and Caspr1 directed precisely towards nodal and paranodal structures. These antibodies are extremely rare and cause severe clinical symptoms. We describe the clinical case of a patient with autoimmune nodopathy caused by the coexistence of anti-neurofascin (NF) 186/140 and 155, characterized by progressive weakness in all limbs leading to tetraplegia, involving cranial nerves, and respiratory insufficiency. Response to first-line treatments was good followed by rapid dramatic clinical relapse. There are few reported cases of anti-pan NF neuropathy in the literature, and they present a clinical phenotype similar to our patient. In these cases, early recognition of clinical red flags of nodopathies and serial neurophysiological studies can facilitate the diagnosis. However, the severe clinical relapse suggests a possible early use of immunosuppressive therapies for this rare category of patients.

Diagnosis and Management of Seronegative Myasthenia Gravis: Lights and Shadows.

Myasthenia gravis (MG) is an antibody-mediated neuromuscular disease affecting the neuromuscular junction. In most cases, autoantibodies can be detected in the sera of MG patients, thus aiding in diagnosis and allowing for early screening. However, there is a small proportion of patients who have no detectable auto-antibodies, a condition termed "seronegative MG" (SnMG). Several factors contribute to this, including laboratory test inaccuracies, decreased antibody production, immunosuppressive therapy, immunodeficiencies, antigen depletion, and immune-senescence. The diagnosis of SnMG is more challenging and is based on clinical features and neurophysiological tests. The early identification of these patients is needed in order to ensure early treatment and prevent complications. This narrative review aims to examine the latest updates on SnMG, defining the clinical characteristics of affected patients, diagnostic methods, management, and therapeutic scenarios.

Miller Fisher syndrome: an updated narrative review.

Introduction: Miller Fisher syndrome (MFS) is considered a rare variant of Guillain-Barré syndrome (GBS), a group of acute-onset immune-mediated neuropathies characterized by the classic triad of ataxia, areflexia, and ophthalmoparesis. The present review aimed to provide a detailed and updated profile of all aspects of the syndrome through a collection of published articles on the subject, ranging from the initial description to recent developments related to COVID-19. Methods: We searched PubMed, Scopus, EMBASE, and Web of Science databases and gray literature, including references from the identified studies, review studies, and conference abstracts on this topic. We used all MeSH terms pertaining to "Miller Fisher syndrome," "Miller Fisher," "Fisher syndrome," and "anti-GQ1b antibody." Results: An extensive bibliography was researched and summarized in the review from an initial profile of MFS since its description to the recent accounts of diagnosis in COVID-19 patients. MFS is an immune-mediated disease with onset most frequently following infection. Anti-ganglioside GQ1b antibodies, detected in ~85% of patients, play a role in the pathogenesis of the syndrome. There are usually no abnormalities in MFS through routine neuroimaging. In rare cases, neuroimaging shows nerve root enhancement and signs of the involvement of the central nervous system. The most consistent electrophysiological findings in MFS are reduced sensory nerve action potentials and absent H reflexes. Although MFS is generally self-limited and has excellent prognosis, rare recurrent forms have been documented. Conclusion: This article gives an updated narrative review of MFS with special emphasis on clinical characteristics, neurophysiology, treatment, and prognosis of MFS patients.

Starting eculizumab as rescue therapy in refractory myasthenic crisis.

INTRODUCTION: Myasthenia gravis is a long-lasting autoimmune neuromuscular disease caused by antibodies attacking the neuromuscular junction, which can result in muscle weakness, fatigue, and respiratory failure in severe cases. Myasthenic crisis is a life-threatening event that requires hospitalization and treatments with intravenous immunoglobulin or plasma exchange. We reported the case of an AChR-Ab-positive myasthenia gravis patient with refractory myasthenic crisis, in which starting eculizumab as rescue therapy led to a complete resolution of the acute neuromuscular condition. CASE PRESENTATION: A 74-year-old man diagnosed with myasthenia gravis. ACh-receptor antibodies positivity comes to our observation for a recrudescence of symptoms, unresponsive to conventional rescue therapies. Due to the clinical worsening over the following weeks, the patient was admitted to intensive care unit, where he underwent therapy with eculizumab. About 5 days after the treatment, there was a significant and complete recovery of clinical condition with weaning-off from invasive ventilation and discharge to outpatient regimen, with reduction of steroid intake and biweekly maintenance with eculizumab. DISCUSSION: Eculizumab, a humanized monoclonal antibody that inhibits complement activation, is now approved as treatment for refractory generalized myasthenia gravis with anti-AChR antibodies. The use of eculizumab in myasthenic crisis is still investigational, but this case report suggests that it may be a promising treatment option for patients with severe clinical condition. Ongoing clinical trials will be needed to further evaluate the safety and efficacy of eculizumab in myasthenic crisis.

Sex differences in neuromuscular disorders.

The prevalence, onset, pathophysiology, and clinical course of many neuromuscular disorders (NMDs) may significantly differ between males and females. Some NMDs are more frequently observed in females, and characterized to show a higher grade of severity during or after the pregnancy. Meanwhile, others tend to have an earlier onset in males and exhibit a more variable progression. Prevalently, sex differences in NMDs have a familiar character given from genetic inheritance. However, they may also influence clinical presentation and disease severity of acquired NMD forms, and are represented by both hormonal and genetic factors. Consequently, to shed light on the distinctive role of biological factors in the different clinical phenotypes, we summarize in this review the sex related differences and their distinctive biological roles emerging from the current literature in both acquired and inherited NMDs.

[Analysis of violence against health care workers through medical surveillance at the workplace in a 8-yr period]. / Analisi della violenza contro i lavoratori della Sanità durante la sorveglianza sanitaria in un periodo di 8 anni.

Physical and moral violence against the workers of a local public health unit is perspectively studied in the period 2005-2011. Data were collected during periodic medical surveillance of all workers exposed to risk and with more than one year of seniority. The prevalence of the phenomenon is constant in the period under review. On average, each year a worker in ten is physically assaulted, and one in five is subjected to verbal abuse. The professional groups most exposed to violence are nurses (OR 2.67 IC95% 1.63-4.39) and doctors (OR 2.44 IC95% 1.34-4.46). The areas at greatest risk are the psychiatric care (OR 25.7, IC95% 11.1-59.6) and emergency and first aid (OR 8.8, CI95% 3.8-20.5). The workplace violence against health workers requires urgent preventive interventions.

[Workers with alcohol and drug addiction problems. Consensus Document of the Study Group on Hazardous Workers]. / Lavoratori con problemi di alcol e dipendenze. Documento di Consenso del gruppo La.R.A. (Lavoratori Rischiosi per gli Altri).

BACKGROUND: Italian Law 81/08 (so-called "Unified Text of Laws on Health and Safety at Work"), came into force on 15 May 2008 and incorporates provisions related to medical surveillance of drug and alcohol dependency at the workplace. OBJECTIVES: Occupational health traditionally addresses the issue of protection of worker from occupational hazards. The issue of protection of third parties from behaviour of workers resulting from drug and alcohol dependency implies an original methodological approach, involving full cooperation of employer, employees, and health and safety consultants. METHODS: A consensus development meeting was organized under the leadership of the Italian Study Group on Hazardous Workers (La.R.A. group). The meeting brought together physicians of different specialties, legal experts and bioethicists, labour and management policy-makers, to discuss the issue and define the research data available, the standards that were appropriate, and which policies were fair. RESULTS: The efficacy of medical surveillance, including workplace drug-testing, relies on a comprehensive policy, including written and verbal information on the use of alcohol and drugs on the job, training for supervisors and management, employee education, and employee assistance structures. Sample collection and testing should be carried out in accordance with standardized and tested procedures. Small businesses will need assistance, including development of model policies, setting up consortia for testing services and if necessary request for National Insurance benefits to reduce costs. CONCLUSIONS: The recently introduced Italian legislation on occupational safety and health closely resembles Finnish law since it consists of a "double channel" for workplace drug testing. At recruitment, the employer is entitled to ask a job applicant for a certificate of "Job fitness", including drug tests, that can be issued only by a public health institution, where the job applicant works on a well-defined set of tasks which require accuracy, trustworthiness, independent judgement or a very good reaction capacity. The employer may also refer the employee to the public health institution to obtain a certificate in the course of an employment contract when there is a legitimate suspicion that the employee is working while under the effects of drugs or alcohol or that the employee is a drug addict. After recruitment, the physician responsible for medical surveillance of workers (the so-called "Competent Physician") is entitled to perform drug tests on employees. The need for a test is decided by the health care professional, not by the employer, and only a general report on the health of the employee ("fit", fit with restrictions" or "unfit") may be given to the employer. Workers positive for drug tests will be referred to a public health institution for re-testing and treatment.

[Health surveillance audit of wood dust exposure]. / Audit della sorveglianza sanitaria negli esposti a polvere di legno.

BACKGROUND: Medical surveillance of wood-dust exposed workers has been compulsory in Italy since 1956. The Law 66 of 25/2/2000, as a consequence of the EU Directive regarding occupational carcinogenic and mutagenic agents, has recently enforced preventive measures for wood dust exposure. OBJECTIVES: The Local Health Unit RM-F, Civitavecchia, has developed a Workplace Vigilance Plan, specifically aimed at the enhancement of preventive measures against carcinogens. The Plan includes the "audit" of the Occupational Health physicians responsible for workers' surveillance. METHODS: Physicians are invited to revise the quality of their work and to consider the inclusion of specific occupational health measures in the health plan, such as rhinoscopic examination. RESULTS: In many cases, this action leads to the revision of the Security Document, the improvement of programs and protocols, and the enhancement of training activities. In a few cases, medical surveillance allowed diagnosis of wood dust-related occupational diseases, such as nasal polyposis and adenocarcinoma of paranasal sinuses. CONCLUSIONS: Audit in occupational medicine is a feasible and efficient tool to improve quality of health care.