Myasthenie.comAssociation de malades de la Myasthénie et leurs familles.2024-03-18T15:02:54+01:00https://www.myasthenie.com/feed2024-03-18T15:02:54+01:002024-03-18T15:02:54+01:00https://www.myasthenie.com/viewtopic.php?p=154112#p154112
"Mon SELFIM" - votre compagnon personnel dans la compréhension et l'explication de la myasthénie.
Nous sommes ravis de vous présenter ce nouvel outil destiné à vous accompagner dans votre parcours de santé !
Mais qu'est-ce que "Mon SELFIM" exactement ?
"Mon SELFIM " est bien plus qu'une simple application. C'est un allié dédié à vous accompagner dans votre parcours de santé.
Que peut faire "Mon SELFIM" pour vous ?
"Mon SELFIM" vous aidera à :
Comprendre et Expliquer votre Myasthénie:
"Mon SELFIM" est conçu pour vous aider à mieux comprendre votre condition et à l'expliquer à vos proches et à votre équipe médicale.
Suivre l'évolution de vos symptômes:
Avec "Mon SELFIM", vous pouvez suivre l'évolution de vos symptômes au fil du temps. Cela vous permettra d'avoir une vision claire de votre état de santé et de mieux préparer vos consultations médicales.
Préparer les consultations médicales:
Grâce à "Mon SELFIM", vous pourrez préparer efficacement vos consultations médicales en consignant vos expériences, vos difficultés et vos ressentis. Cela aidera votre médecin à mieux comprendre votre situation et à vous fournir les meilleurs soins possibles.
Comment utiliser "Mon SELFIM" ?
C'est simple !
Utilisez "Mon SELFIM" à votre rythme, quand vous le souhaitez.
Notez ce que vous vivez dans votre corps, vos difficultés, vos ressentis tout en utilisant vos propres mots.
Gardez à l'esprit que "Mon SELFIM" ne vise pas à poser un diagnostic médical,mais plutôt à vous aider à communiquer efficacement avec vos professionnels de santé.
Nous sommes convaincus que "Mon SELFIM" facilitera les discussions avec vos professionnels de santé et vous aidera à mieux communiquer avec vos proches.
N'hésitez pas à télécharger "Mon SELFIM" dès maintenant et à commencer votre voyage vers une meilleure compréhension de votre myasthénie.
Restez connecté avec nous pour toutes questions ou suggestions.
]]>2024-03-18T11:00:00+01:002024-03-18T11:00:00+01:00https://www.myasthenie.com/viewtopic.php?p=154111#p154111Clin Respir J. 2024 Mar;18(3):e13740. doi: 10.1111/crj.13740.
ABSTRACT
Lambert-Eaton myasthenic syndrome (LEMS) is a rare paraneoplastic neurological syndrome of the neuromuscular transmission. The symptoms often progress slowly and can be misdiagnosed in early stage. Seropositive SOX-1 antibodies are support for the diagnosis of LEMS and have high specificity for small cell lung cancer (SCLC). In this paper, we report a case of a 56-year-old man with smoking history who was admitted to hospital with progressive muscle weakness of the proximal legs. LEMS was diagnosed by repetitive nerve stimulation (RNS) testing and seropositive SOX-1 antibodies. Primary screening with chest computed tomography (CT) and integrated PET/CT did not reveal any tumor. After continuous follow-up, SCLC was found by chest CT and confirmed with pathological examination 10 months after the diagnosis of LEMS. Long-term follow-up and screening for occult SCLC in LEMS patients with positive SOX-1 antibodies are very important.
Source: https://pubmed.ncbi.nlm.nih.gov/3849722 ... t9+e462414
]]>2024-03-18T10:40:04+01:002024-03-18T10:40:04+01:00https://www.myasthenie.com/viewtopic.php?p=154109#p154109 Suite de notre série "Comprendre la myasthénie"
Voici le troisième épisode de la saison III consacré au système immunitaire : "Le complément : son rôle dans la réponse immunitaire!" "
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Bonne séance
]]>2024-03-18T10:36:14+01:002024-03-18T10:36:14+01:00https://www.myasthenie.com/viewtopic.php?p=154108#p154108 Suite de notre série "Comprendre la myasthénie"
Voici le second épisode de la saison III consacré au système immunitaire : Action des auto-anticorps "
Treatment strategies in paraneoplastic neurological syndromes rely on the three pillars of tumor treatment, immunotherapy, and symptomatic treatment, the first one being by far the most important in the majority of patients and syndromes. Classically, antibodies against extracellular antigens are directly pathogenic, and patients with these syndromes are more responsive to immunomodulatory or immunosuppressive treatments than the ones with antibodies against intracellular targets. This chapter first discusses some general principles of tumor treatment and immunotherapy, followed by a closer look at specific treatment options for different clinical syndromes, focusing on symptomatic treatments.
Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumors arising from the transformation of neuroendocrine cells in several organs, most notably the gastro-entero-pancreatic system and respiratory tract. The classification was recently revised in the 5th Edition of the WHO Classification of Endocrine and Neuroendocrine Tumors. NENs can rarely spread to the central or peripheral nervous systems. Neurologic involvement is determined by the rare development of paraneoplastic syndromes, which are remote effects of cancer. Mechanisms depend on immunologic response to a tumor, leading to the immune attack on the nervous system or the production of biologically active ("functioning") substances, which can determine humoral (endocrine) effects with neurologic manifestations. Paraneoplastic neurologic syndromes (PNS) are immunologically mediated and frequently detected in small cell lung cancer but rarely seen in other forms of NEN. PNS and Merkel cell carcinoma is increasingly reported, especially with Lambert Eaton myasthenic syndrome. Endocrine manifestations are found in a wide spectrum of NENs. They can develop at any stage of the diseases and determine neurologic manifestations. Patient outcomes are influenced by tumor prognosis, neurologic complications, and the severity of endocrine effects.
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by proximal muscle weakness, loss of tendon reflexes, and autonomic dysfunction. Muscle weakness usually starts in the upper legs and can progress to oculobulbar and in severe cases respiratory muscles. P/Q-type voltage-gated calcium channels (VGCCs) localized in the presynaptic motor nerve terminal and in the autonomic nervous system are targeted by antibodies in LEMS patients. These antibodies can be detected in about 90% of patients, and the presence of decrement and increment upon repetitive nerve stimulation is also a highly sensitive diagnostic test. Rapid diagnosis is important because of the association with SCLC in 50%-60% of patients, which stresses the need for vigorous tumor screening after diagnosis. Clinical parameters can predict tumor probability and guide frequency of tumor screening. Treatment of the tumor as well as symptomatic treatment and immunosuppression can effectively control symptoms in the majority of patients.
Treatment strategies in paraneoplastic neurological syndromes rely on the three pillars of tumor treatment, immunotherapy, and symptomatic treatment, the first one being by far the most important in the majority of patients and syndromes. Classically, antibodies against extracellular antigens are directly pathogenic, and patients with these syndromes are more responsive to immunomodulatory or immunosuppressive treatments than the ones with antibodies against intracellular targets. This chapter first discusses some general principles of tumor treatment and immunotherapy, followed by a closer look at specific treatment options for different clinical syndromes, focusing on symptomatic treatments.
Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumors arising from the transformation of neuroendocrine cells in several organs, most notably the gastro-entero-pancreatic system and respiratory tract. The classification was recently revised in the 5th Edition of the WHO Classification of Endocrine and Neuroendocrine Tumors. NENs can rarely spread to the central or peripheral nervous systems. Neurologic involvement is determined by the rare development of paraneoplastic syndromes, which are remote effects of cancer. Mechanisms depend on immunologic response to a tumor, leading to the immune attack on the nervous system or the production of biologically active ("functioning") substances, which can determine humoral (endocrine) effects with neurologic manifestations. Paraneoplastic neurologic syndromes (PNS) are immunologically mediated and frequently detected in small cell lung cancer but rarely seen in other forms of NEN. PNS and Merkel cell carcinoma is increasingly reported, especially with Lambert Eaton myasthenic syndrome. Endocrine manifestations are found in a wide spectrum of NENs. They can develop at any stage of the diseases and determine neurologic manifestations. Patient outcomes are influenced by tumor prognosis, neurologic complications, and the severity of endocrine effects.
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease characterized by proximal muscle weakness, loss of tendon reflexes, and autonomic dysfunction. Muscle weakness usually starts in the upper legs and can progress to oculobulbar and in severe cases respiratory muscles. P/Q-type voltage-gated calcium channels (VGCCs) localized in the presynaptic motor nerve terminal and in the autonomic nervous system are targeted by antibodies in LEMS patients. These antibodies can be detected in about 90% of patients, and the presence of decrement and increment upon repetitive nerve stimulation is also a highly sensitive diagnostic test. Rapid diagnosis is important because of the association with SCLC in 50%-60% of patients, which stresses the need for vigorous tumor screening after diagnosis. Clinical parameters can predict tumor probability and guide frequency of tumor screening. Treatment of the tumor as well as symptomatic treatment and immunosuppression can effectively control symptoms in the majority of patients.
Thymoma is often associated with paraneoplastic neurologic diseases. Neural autoantibody testing is an important tool aiding diagnosis of thymoma and its autoimmune neurologic complications. Autoantibodies specific for muscle striational antigens and ion channels of the ligand-gated nicotinic acetylcholine receptor superfamily are the most prevalent biomarkers. The autoimmune neurologic disorders associating most commonly with thymoma are myasthenia gravis (MG), peripheral nerve hyperexcitability (neuromyotonia and Morvan syndrome), dysautonomia, and encephalitis. Patients presenting with these neurologic disorders should be screened for thymoma at diagnosis. Although they can cause profound disability, they usually respond to immunotherapy and treatment of the thymoma. Worsening of the neurologic disorder following surgical removal of a thymoma may herald tumor recurrence. Prompt recognition of paraneoplastic neurologic disorders is critical for patient management. A multidisciplinary approach is required for optimal management of neurologic autoimmunity associated with thymoma.
This chapter reviews the association between cancer and the idiopathic inflammatory myopathies (IIM), which includes dermatomyositis (DM), antisynthetase syndrome (ASyS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM). Accumulating evidence shows that the risk of a coexisting malignancy is high in patients with DM, especially among those with anti-Tif1γ autoantibodies. Patients with IMNM and no defined autoantibodies also have an increased risk of malignancy. Recent evidence demonstrates that many IBM patients have increased numbers of circulating CD57+ CD8+ T cells, consistent with a diagnosis of large granular lymphocytic leukemia. In contrast, IMNM patients with anti-SRP or anti-HMGCR autoantibodies as well as patients with ASyS syndrome do not have a definitively increased risk of cancer. Patients who have a cancer treated with one of the immune checkpoint inhibitors can develop myositis (ICI-myositis), sometimes along with myasthenia gravis and/or myocarditis.
Myasthenia gravis (MG) is an autoimmune disease characterized by dysfunction of the neuromuscular junction resulting in skeletal muscle weakness. It is equally prevalent in males and females, but debuts at a younger age in females and at an older age in males. Ptosis, diplopia, facial bulbar weakness, and limb weakness are the most common symptoms. MG can be classified based on the presence of serum autoantibodies. Acetylcholine receptor (AChR) antibodies are found in 80%-85% of patients, muscle-specific kinase (MuSK) antibodies in 5%-8%, and
Source: https://pubmed.ncbi.nlm.nih.gov/3849428 ... t9+e462414
]]>2024-03-16T11:00:00+01:002024-03-16T11:00:00+01:00https://www.myasthenie.com/viewtopic.php?p=154099#p154099Arch Gynecol Obstet. 2024 Mar 16. doi: 10.1007/s00404-024-07436-y. Online ahead of print.
ABSTRACT
PURPOSE: Myasthenia gravis (MG) is a rare, potentially life-threatening autoimmune disease with fluctuating muscle weakness frequently affecting women of childbearing age. MG can affect maternal as well as neonatal outcome with risk of worsening of myasthenic symptoms in the mothers and risk of transient neonatal myasthenia gravis (TNMG) and arthrogryposis multiplex congenita (AMC) or foetal acetylcholine receptor antibody-associated disorders (FARAD) in the neonates.
METHODS: Retrospective analysis of maternal and neonatal outcome in a cohort of pregnant MG patients treated at a tertiary care centre in Germany.
RESULTS: Overall, 66 pregnancies were analysed. During 40 (63%) pregnancies, women experienced a worsening of myasthenic symptoms, of whom 10 patients (15.7%) needed acute therapy with IVIg or plasma exchange. There was no case of myasthenic crisis. Rate of caesarean section was comparable to the overall C-section rate at our centre (38% vs. 40%). However, there was a slightly higher rate for operative vaginal delivery (15% vs. 10%) as potential indicator for fatiguing striated musculature in MG patients during the expulsion stage. Rate of TNMG as well as AMC was 3% (two cases each).
CONCLUSIONS: Maternal and neonatal outcome in our cohort was favourable with a low rate of myasthenic exacerbations requiring acute therapies and a low rate of TNMG and AMC/FARAD. Our data might help neurologists and obstetricians to advice MG patients with desire to have children.
Source: https://pubmed.ncbi.nlm.nih.gov/3849208 ... t9+e462414
]]>2024-03-15T16:16:19+01:002024-03-15T16:16:19+01:00https://www.myasthenie.com/viewtopic.php?p=154097#p154097 Nous avons le plaisir de vous annoncer la parution de l'épisode III de notre série
"Comprendre la myasthénie : Le système immunitaire - Le complément Son rôle dans la réponse immunitaire !"
Le professeur Lionel ROSTAING et le docteur Emmeline LAGRANGE du CHUGA Grenoble, reprennent leur exploration du système immunitaire, cette fois en mettant l'accent sur le rôle fondamental du Complément dans la réponse immunitaire, spécifiquement en relation avec la myasthénie auto-immune.
Ils démystifient le mécanisme d'action du Complément, un système de protéines sanguines essentiel à la défense de l'organisme contre les infections, et expliquent son importance cruciale dans le processus pathologique de la myasthénie.
]]>2024-03-14T11:00:00+01:002024-03-14T11:00:00+01:00https://www.myasthenie.com/viewtopic.php?p=154096#p154096Neurology. 2024 Apr 9;102(7):e209258. doi: 10.1212/WNL.0000000000209258. Epub 2024 Mar 14.
ABSTRACT
We describe the case of a 19-month-old girl presenting with gross motor delays, hypotonia, diminished deep tendon reflexes, hyperCKaemia, extensive white matter changes on MRI brain, and electromyography studies consistent with myopathy. The differential diagnosis for infantile-onset hypotonia and muscle weakness is broad. It includes numerous subtypes of genetic disorders, including congenital muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, spinal muscular atrophy, single-gene genetic syndromes, and inborn errors of metabolism. We outline our clinical approach leading to the diagnosis of a distinctive genetic neuromuscular condition essential for neurologists and geneticists working with patients of all ages to recognize.
OBJECTIVES: Kelch-like protein-11 (KLHL11)-IgG is associated with rhombencephalitis and seminoma. It has not previously been described as a neurologic immune checkpoint inhibitor (ICI)-related adverse event (nirAE) or in association with esophageal adenocarcinoma.
METHODS: We describe a 61-year-old man with metastatic esophageal adenocarcinoma treated with folinic acid, fluorouracil, oxaliplatin (FOLFOX), and nivolumab, who subsequently developed diplopia, vertigo, and progressive gait ataxia after 8 weeks of treatment.
RESULTS: Owing to a concern for ICI-associated myasthenia gravis, nivolumab was held and he was treated with prednisone and pyridostigmine. EMG showed no neuromuscular junction dysfunction, and acetylcholine-receptor antibodies were negative. Brain MRI was unrevealing. Murine brain tissue immunofluorescence assay revealed KLHL11-IgG in both serum and CSF, confirmed by cell-based assay. Tumor histopathology demonstrated poorly differentiated, highly proliferative adenocarcinoma with increased mitotic figures and cytoplasmic KLHL11 immunoreactivity. He was initiated on 6 months of cyclophosphamide in addition to FOLFOX for post-ICI-associated KLHL11-IgG rhombencephalitis.
DISCUSSION: We report KLHL11-IgG rhombencephalitis associated with poorly differentiated esophageal cancer as a novel nirAE. Tumor staining revealed KLHL11 immunoreactivity, supporting a cancer-antigen-driven ICI-associated paraneoplastic syndrome. Recognition of novel nirAEs can expedite treatment and potentially prevent progressive neurologic disability.
INTRODUCTION: Mechanical thrombectomy (MT) has changed the standard of care for patients presenting with acute ischemic stroke (AIS). The window of treatment has significantly increased the number of patients who would benefit from intervention and operators may be confronted with patients harboring preexistent neurological disorders. Still, the epidemiology of patients with AIS and neurological disorders has not been established.
METHODS: This is a retrospective study, which utilizes data from the National Inpatient Sample (NIS) between 2012 and 2016. Patients with the major neurological comorbidities in the study were included: Alzheimer's dementia (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and myasthenia gravis (MG). These patients were divided into groups and analyzed based on discharged home status, length of hospital stay (LOS), and inpatient mortality. These outcomes were also compared between patients who underwent MT versus those who did not.
RESULTS: In this study, 460,070 patients with AIS were identified and included. MT was performed less often when the patient had a neurological diagnosis compared to those without a neurological disease (p
Dyspnea can be found as a symptom of a wide range of diseases. Clinical thinking usually leads us to more common or frequent syndromes and diseases. This case report alerts us to keep investigating when faced with therapeutic failure or the arising of new symptoms. The subject in this case had dyspnea as an initial presentation of his disease and was treated initially as a case of heart dysfunction. Nevertheless, because his symptoms did not respond to the treatment and even got worse, he was sent to the emergency room where he was medicated and discharged with the same diagnostic hypothesis. In light of a new characteristic symptom - ptosis - the hospital team expanded its clinical and laboratory investigation to neuromuscular diseases, reaching out the diagnosis of myasthenia gravis.
Source: https://pubmed.ncbi.nlm.nih.gov/3848189 ... t9+e462414
]]>2024-03-13T11:00:00+01:002024-03-13T11:00:00+01:00https://www.myasthenie.com/viewtopic.php?p=154091#p154091Int J Surg Case Rep. 2024 Mar 11;117:109514. doi: 10.1016/j.ijscr.2024.109514. Online ahead of print.
ABSTRACT
INTRODUCTION: The neuromuscular condition myasthenia gravis (MG) can make treating sepsis-induced pneumonia more challenging. Since these patients risk respiratory failure, decisions about airway treatment, including tracheostomy, can be difficult. We report a case of a patient with sepsis and concurrent MG who underwent an early tracheostomy due to acute respiratory failure.
PRESENTATION OF CASE: A 44-year-old woman with a history of MG presented to the emergency department with a stiff tongue, hypersalivation, limb paralysis and a phlegmy cough causing severe respiratory distress, aggravated by community-acquired pneumonia. A chest X-ray showed extensive infiltration and consolidation in the lower lobes. The patient was transferred immediately to the intensive care unit on mechanical ventilation. Despite initial treatment with antibiotics and respiratory support, her mental and respiratory status deteriorated rapidly. Given the risk of myasthenic crisis, sepsis and impending respiratory failure, with anticipated lengthy ventilator utilization and hospitalization, a multidisciplinary team decided to perform an early tracheostomy.
DISCUSSION: The early tracheostomy procedure was carried out securely on the third day of hospitalization. This allowed for better pulmonary hygiene, adequate ventilation, airway clearance and rehabilitation therapy. The family contributed to stoma care and breathing exercises. The patient's respiratory condition steadily improved over the following weeks. The cough reflex remained well, and mechanical ventilation was gradually weaned off.
CONCLUSION: Early tracheostomy in a paralyzed MG patient with sepsis-induced pneumonia can improve clinical outcomes and optimize airway management.