Guillain-Barré syndrome in patients with SARS-CoV-2 infection. Report of three cases.

Several cases of Guillain Barre Syndrome (GBS) associated with SARS-CoV-2 have been published, most being acute inflammatory demyelinating polyradiculoneuropathy. Between April and December 2020, 1,499 cases of SARS-CoV-2 infection were admitted to Hospital del Salvador, in Santiago, Chile, serving a population of 521,920 adults. In the same period, seven cases of GBS were admitted.

Validation of Spanish version of 15-item myasthenia gravis quality-of-life questionnaire.

Objectives: The aim of this study was to achieve the translation and cross-cultural adaptation of the MG-QOL15R questionnaire into Spanish and the analysis of its psychometric properties.

Materials And Methods: We recruited patients with MG, ≥18 years old, whose mother tongue was Spanish. After the translation and cross-cultural adaptation of the MG-QOL15-R, the following tests were performed: internal consistency using the Cronbach-α coefficient and corrected item-total correlations; reproducibility with a test-retest analysis using intraclass correlation coefficients; and concurrent validity using Spearman's correlation coefficient of the Spanish language MG-QOL15R-S, Myasthenia Gravis Activity of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) scores.

[Monomelic amyotrophy. Report of one case].

Monomelic amyotrophy, also known as Hirayama disease, is a rare lower motor neuron syndrome due to localized lower motor neuron loss in the spinal cord at the cervical level. Clinically, monomelic amyotrophy is defined by the insidious onset of unilateral atrophy and weakness involving the hand and forearm, typically beginning in the second or third decade of life. We report 19-year-old man with a two years history of slowly progressive unilateral weakness and atrophy of his right-hand muscles.

International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update.

Objective: To update the 2016 formal consensus-based guidance for the management of myasthenia gravis (MG) based on the latest evidence in the literature.

Methods: In October 2013, the Myasthenia Gravis Foundation of America appointed a Task Force to develop treatment guidance for MG, and a panel of 15 international experts was convened. The RAND/UCLA appropriateness method was used to develop consensus recommendations pertaining to 7 treatment topics.

Inside minds, beneath diseases: social cognition in amyotrophic lateral sclerosis-frontotemporal spectrum disorder.

Objective: To compare social cognition performance between patients with amyotrophic lateral sclerosis (ALS) and those patients with behavioural variant frontotemporal dementia (bvFTD).

Methods: We included 21 participants with ALS, 20 with bvFTD and 21 healthy controls who underwent a comprehensive cognitive battery, including the short version of the Social Cognition and Emotional Assessment (Mini-SEA), which comprises the test and Facial Emotion Recognition Test (FERT); Mini-Mental State Examination; Frontal Assessment Battery; lexical fluency (F-A-S), category fluency (animals/minute), digit span (direct and backwards) tests and the Hayling test. A post hoc analysis was conducted with the patients with ALS divided into two subgroups: patients without cognitive impairment (ALScn; n=13) and patients with cognitive impairment (ALSci; n=8).

Minimal manifestation status and prednisone withdrawal in the MGTX trial.

Objective: To examine whether sustained minimal manifestation status (MMS) with complete withdrawal of prednisone is better achieved in thymectomized patients with myasthenia gravis (MG).

Methods: This study is a post hoc analysis of data from a randomized trial of thymectomy in MG (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy [MGTX]). MGTX was a multicenter, randomized, rater-blinded 3-year trial that was followed by a voluntary 2-year extension for patients with acetylcholine receptor (AChR) antibody-positive MG without thymoma.

Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.

Brief resolved unexplained events (BRUEs) have numerous and varied causes posing a challenge to investigation and management. A subset of infants with the neuromuscular disorder sodium channel myotonia, due to mutations in the gene, experience apnoeic events due to laryngospasm (myotonia) of the upper airway muscles that may present as a BRUE. We sought to ascertain the frequency, severity and outcome of infants carrying the G1306E mutation commonly associated with this presentation.

Epidemiology of chronic inflammatory demyelinating polyneuropathy in the South-Eastern area of Santiago, Chile.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated polyneuropathy. It usually has an insidious onset, progressive course and heterogeneous clinical features. As far as we know, there is no epidemiological information on CIDP in South America and the Caribbean.

[Cerebrotendinous xanthomatosis. Report of one case].

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas.

[Autoimmune chronic meningitis secondary to pneumococcal meningitis. Report of one case].

Pneumococcal meningitis produces several inflammatory disorders in susceptible subjects. A worsening of meningitis can occur on the fourth day of evolution in relation with the withdrawal of steroids. Other complications include the development of inflammatory signs in the post-acute stage of infection associated with disseminated vasculitis of the cerebral blood vessels and, even later, an autoimmune chronic meningitis.

[Stiff-person syndrome mistaken for conversive disorder: a common error].

Stiff-person syndrome is characterized by persistent muscle spasms, involving agonist and antagonist muscles simultaneously, starting in the lower limbs and trunk. It tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that later become continuous and usually painful. Minor sensory stimuli, such as noise or light touch, precipitate severe spasms.

Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy.

Bilateral simultaneous radial palsy is uncommon, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch or birthing bar during labor. We present a patient who developed a severe bilateral palsy after playing in a dancing simulator machine. The patient's position during the game was a combination of wrist extension, elbow flexion, retroversion of arms and a degree of minor torsion of both upper limbs.

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial.

Background: The Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone (MGTX) showed that thymectomy combined with prednisone was superior to prednisone alone in improving clinical status as measured by the Quantitative Myasthenia Gravis (QMG) score in patients with generalised non-thymomatous myasthenia gravis at 3 years. We investigated the long-term effects of thymectomy up to 5 years on clinical status, medication requirements, and adverse events.

Methods: We did a rater-blinded 2-year extension study at 36 centres in 15 countries for all patients who completed the randomised controlled MGTX and were willing to participate.

[Myasthenia gravis and its association with lymphoproliferative disorders: a case series].

Myasthenia gravis (MG) is a rare autoimmune disease of the neuromuscular junction. It is characterized by variable weakness and excessive fatigability of skeletal muscles. In the last few years, numerous reports have been published showing the association between autoimmune diseases, such as systemic erythematous lupus or rheumatoid arthritis, with lymphoid neoplasias.

Randomized Trial of Thymectomy in Myasthenia Gravis.

Background: Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. We conducted a multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone.

Methods: We compared extended transsternal thymectomy plus alternate-day prednisone with alternate-day prednisone alone.

[Facioscapulohumeral muscular dystrophy: Report of seven patients].

Background: Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15% of patients become wheelchair bound in the course of their life.

[Clinical features of Guillain-Barré syndrome in 41 patients admitted to a public hospital].

Background: Guillain-Barré syndrome (GBS) is the commonest cause of acute flaccid paralysis worldwide, with an incidence of 0.6-4 per 100.000 inhabitants per year.

Thymectomy for non-thymomatous myasthenia gravis.

Background: Treatments currently used for patients with myasthenia gravis (MG) include steroids, non-steroid immune suppressive agents, plasma exchange, intravenous immunoglobulin and thymectomy. Data from randomized controlled trials (RCTs) support the use of some of these therapeutic modalities and the evidence for non-surgical therapies are the subject of other Cochrane reviews. Significant uncertainty and variation persist in clinical practice regarding the potential role of thymectomy in the treatment of people with MG.

Reduced oxidative phosphorylation and proton efflux suggest reduced capillary blood supply in skeletal muscle of patients with dermatomyositis and polymyositis: a quantitative 31P-magnetic resonance spectroscopy and MRI study.

Quantitative MRI and phosphorus magnetic resonance spectroscopy ((31)P-MRS) were used to investigate skeletal muscle metabolism in vivo in patients with dermatomyositis (DM) and polymyositis (PM) in order to evaluate the role of mitochondrial abnormalities in the pathogenesis and clinical expression of these conditions. Nine patients with DM (mean age +/- SD, 57 +/- 14 years) and five with PM (42 +/- 12 years) and with age at disease onset 53 +/- 16 and 38 +/- 12 years, respectively, were included in the study together with 18 age-matched controls. Post-exercise (31)P-MRS indices of muscle oxidative metabolism were all impaired in DM and PM.