Prognosis of Ocular Myasthenia Gravis in an Argentinian Population.

BACKGROUND: We investigated the prognosis of patients with myasthenia gravis (MG) initially presenting with only ocular symptoms in an Argentinian population. SUMMARY: We performed a retrospective analysis of 61 patients with MG with pure ocular involvement at onset. Generalized MG (gMG) developed in 73.7% of patients, while the rest only exhibited ocular symptoms throughout the course of the disease (ocular MG [oMG]). The AChR antibody (AChR-ab) was found in 81.4% of the gMG and 50% of the oMG cases. AChR-ab titers were also significantly higher in the gMG than in the oMG group. Patients with oMG more frequently required treatment only with acetylcholinesterase inhibitors and showed more remissions. Key Messages: Our study showed high generalization in patients with MG debuting with ocular symptoms. Patients with AChR seropositivity and higher AChR-ab titers had an increased risk for gMG, while patients with oMG showed lower corticosteroid requirements and a higher remission rate.

[Neuropsychological performance in patients with myasthenia gravis]. / Rendimiento neuropsicológico en pacientes con miastenia gravis.

Myasthenia gravis is a chronic autoimmune disease that affects the neuromuscular transmission. Controversial findings had been reported about cognitive impairment in this disease. The aim of this study was to investigate the cognitive pattern of patients with myasthenia gravis. There were enrolled 24 patients with myasthenia gravis, anti-acetylcholine receptor antibodies (ACRA) positive, and 24 healthy controls. PATIENTS: age 43.9 ± 14.8, years of education 10.9 ± 3.3. CONTROLS: age 44.5 ± 15.4, years of education 11.5 ± 3.3. The following areas were evaluated: verbal memory: (long-term storage, retrieval, delayed recall) of the Selective Remained Test; attention: Paced Auditory Serial Addition Task (PASAT 2 and 3 seconds); executive functions: analogies and numbers-letters sequence. Also, it was administered the Beck Depression Inventory II (BDI II). About 33.3% of patients obtained abnormal performance in two or more cognitive tests. 37.5% showed deterioration in attention; 33.3% in verbal memory; 29.2% in executive functions. Significant differences between patients and healthy controls were found in long-term storage (p = 0.001); retrieval (p = 0.007); delayed recall (p = 0.000); PASAT 3 (p = 0.009); PASAT 2 (p = 0.009) and analogies (p = 0.003). Evidence of depression was found: mild in 4.2% of patients; moderate in 25% and severe in 29.2%. Neuropsychological performance declines in patients with myasthenia gravis: attention was more affected than other cognitive areas.

Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases.

ABSTRACT: In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be established. We investigated the clinical and electromyographic characteristics of patients who developed GBS after COVID-19 vaccination and compare these with findings in patients with GBS, without a history of recent vaccination. We included 91 cases between March 2020 and March 2022, treated at 10 referral hospitals of Buenos Aires, Argentina. Of these, 46 had received vaccination against COVID-19 within the previous month. Although Medical Research Council sum-scores were similar in both groups (median 52 vs. 50; P = 0.4), cranial nerve involvement was significantly more frequent in the postvaccination group (59% vs. 38%; P = 0.02), as was bilateral facial paralysis (57% vs. 24%; P = 0.002). No differences were found in clinical or neurophysiological phenotypes, although 17 subjects presented the variant of bilateral facial palsy with paresthesias (11 vs. 6; P = 0.1); nor were significant differences observed in length of hospital stay or mortality rates. Future vaccine safety monitoring and epidemiology studies are essential to demonstrate any potential causal relationship between these events.

Low Vitamin D Serum Levels in a Cohort of Myasthenia Gravis Patients in Argentina.

There are limited and controversial studies that address the role of vitamin D (vitD), a vitamin with immunomodulatory effects, in myasthenia gravis (MG), a neuromuscular autoimmune disease. We aimed to assess 25-hydroxy vitamin D (25(OH)D) levels and to evaluate possible associations with the clinical severity and other biomarkers of the disease. Serum levels of 25(OH)D, anti-acetylcholine receptor antibodies and complement factor C5a were measured in MG patients (n = 66) and healthy volunteers (HV) (n = 25). Participants were evaluated through questionnaires to determine vitD intake and sunlight exposure. Severity scores were registered for MG patients. We found an 89.4% of MG individuals with nonsufficient levels of vitD, in comparison with 68.0% in the group of HV (OR = 3.96; P = 0.024). In addition, there was an inverse correlation between 25(OH)D levels and one of the scores (P = 0.037 r = -0.26, CI95  = -0.49 to -0.0087). However, when we compared 25(OH)D median serum levels between MG patients and HV, no statistically significant differences have been found. This is the first report of vitD status in a cohort of Argentinean MG patients, where we found that patients are more likely to have nonsufficient levels of vitD compared to healthy people and that patients with more severe disease have lower levels of vitD.

[Myasthenia gravis. Register of 190 cases in a single center]. / Miastenia gravis. Registro de 190 casos en un centro único.

Myasthenia gravis (MG) is an antibody-mediated autoimmune disease of the neuromuscular junction. The aim of this study was to evaluate clinical, epidemiological and serological features of patients with MG in a Public Hospital of Buenos Aires City. A retrospective analysis of 190 patients diagnosed with MG was performed. The mean age of MG onset was 38 years, 30% had late-onset MG (onset age > 50 years). The female/male ratio was 1.7 / 1. Disease started earlier in women than in men, mean 32 vs. 48 years (p < 0.0001). Familial autoimmune MG represented 3.2% of the cases. Most of the patients initiated their disease with a pure ocular form (52%). 12.1% (23/190) were considered ocular MG at follow-up. Thymoma-associated MG represented 11.6% of cases. 27.1% had other associated autoimmune disease, thyroid disorders were the most frequent. 81.4% were anti-acetylcholine receptor antibody (AChR-ab) positive MG; 22.7% of AChR-ab negatives were positive for anti-muscle specific kinase (MusK) antibodies. Clinical outcome was relatively good; more than half of cases were in remission or minimal manifestations at the last visit. The majority of patients required immunosuppression to control the symptoms, 78% received corticosteroids and 48%, a non-steroidal immunosuppressant.

La miastenia gravis (MG) es una enfermedad autoinmune mediada por anticuerpos dirigidos contra proteínas post sinápticas de la unión neuromuscular. El objetivo de este estudio fue describir los aspectos clínicos, epidemiológicos y serológicos de pacientes con MG en un Hospital Público de la Ciudad de Buenos Aires. Se realizó un análisis retrospectivo sobre 190 enfermos con diagnóstico de MG. La edad media de inicio de la enfermedad fue de 38 años; 57 (30%) fueron MG de inicio tardío (inicio de síntomas > 50 años). La relación mujer/hombre fue 1.7/1. La enfermedad se inició más tempranamente en las mujeres que en los hombres, media 32 vs. 48 años (p < 0.0001). La MG familiar autoinmune representó el 3.2 % (6 casos). La forma más común de presentación fue con manifestaciones oculares puras (52%). El 12.1% (23/190) fue considerada MG ocular en el seguimiento. La MG asociada a timoma se presentó en 22 casos (11.6%). El 27.1% presentó otra enfermedad autoinmune asociada, siendo las tiroideas las más frecuentes. El 81.4% tuvo anticuerpos antireceptores de acetilcolina (ACRA) positivos y 22.7% de los ACRA negativos fueron positivos para anticuerpos anti-tirosina quinasa musculo especifica (anti-MusK). La evolución clínica fue favorable, hallándose más de la mitad de los casos en remisión o manifestaciones mínimas en la última visita. La mayoría requirió inmunosupresión para control de la sintomatología, el 78% recibió corticoides y el 48% un inmunosupresor no esteroideo.

C3, C5a and anti-acetylcholine receptor antibody as severity biomarkers in myasthenia gravis.

BACKGROUND: Although the pathogenesis of myasthenia gravis (MG) is well known, prognostic markers are not yet available. We assessed the utility of anti-acetylcholine receptor (AChR) antibody (AChR-ab) titer and concentration of C3, C4, and C5a as potential severity biomarkers in MG. METHODS: Levels of C3, C4, C5a, and AChR-ab were measured in 60 AChR-ab-positive patients with MG. Their relationship with clinical severity was analyzed using the activities of daily living (ADL) and MG composite (MGC) scales. RESULTS: AChR-ab titer correlated with severity of MG according to ADL (p = 0.002) and MGC scales (p = 0.001). When patients were classified according to disease duration, a statistically significant correlation between AChR-ab titer and clinical severity was only found in the subgroup of patients with fewer than 5 years from symptoms onset. C5a levels showed a positive correlation with MG severity according to the ADL scale (p = 0.041; τb = 0.18), although C5a levels were not different from the control group. DISCUSSION: AChR-ab titers and C5a levels could potentially be considered markers of severity in patients with MG.

Type 1 diabetes mellitus care and education in China: The 3C study of coverage, cost, and care in Beijing and Shantou.

AIMS: The paucity of data on Type 1 diabetes in China hinders progress in care and policy-making. This study compares Type 1 diabetes care and clinical outcomes in Beijing and Shantou with current clinical guidelines. METHODS: The 3C Study was a cross-sectional study of the clinical practices and outcomes of people with Type 1 diabetes. The study sequentially enrolled 849 participants from hospital records, inpatient wards, and outpatient clinics. Data were collected via face-to-face interviews with patients and health professionals, the Summary of Diabetes Self-Care Activities, medical records, and venous blood samples. Care was audited using ISPAD/IDF indicators. Data underwent descriptive analysis and tests for association. RESULTS: The median age was 22years (IQR=13-34years), and 48.4% of the sample had diabetes less than six years. The median HbA1c was 8.5% (69mmol/mol) (IQR 7.2-10.5%), with significant regional variance (p=0.002). Insulin treatment was predominantly two injections/day (45% of patients). The highest incidence of diabetic ketoacidosis was 14.4 events/100 patient years among adolescents. Of the 57.3% of patients with LDL-C>2.6mmol/L, only 11.2% received treatment. Of the 10.6% considered hypertensive, 47.1% received treatment. Rates of documented screening for retinopathy, nephropathy, and peripheral neuropathy were 35.2%, 42.3%, and 25.0%, respectively. The median number of days of self-monitoring/week was 3.0 (IQR=1.0-7.0). There were significant differences in care practices across regions. CONCLUSIONS: The study documented an overall deficit in care with significant regional differences noted compared to practice guidelines. Modifications to treatment modalities and the structure of care may improve outcomes.

Miastenia gravis: Registro de 190 casos en un centro único / Myasthenia gravis. Register of 190 cases in a single center

La miastenia gravis (MG) es una enfermedad autoinmune mediada por anticuerpos dirigidos contra proteínas post sinápticas de la unión neuromuscular. El objetivo de este estudio fue describir los aspectos clínicos, epidemiológicos y serológicos de pacientes con MG en un Hospital Público de la Ciudad de Buenos Aires. Se realizó un análisis retrospectivo sobre 190 enfermos con diagnóstico de MG. La edad media de inicio de la enfermedad fue de 38 años; 57 (30%) fueron MG de inicio tardío (inicio de síntomas > 50 años). La relación mujer/hombre fue 1.7/1. La enfermedad se inició más tempranamente en las mujeres que en los hombres, media 32 vs. 48 años (p < 0.0001). La MG familiar autoinmune representó el 3.2 % (6 casos). La forma más común de presentación fue con manifestaciones oculares puras (52%). El 12.1% (23/190) fue considerada MG ocular en el seguimiento. La MG asociada a timoma se presentó en 22 casos (11.6%). El 27.1% presentó otra enfermedad autoinmune asociada, siendo las tiroideas las más frecuentes. El 81.4% tuvo anticuerpos anti-receptores de acetilcolina (ACRA) positivos y 22.7% de los ACRA negativos fueron positivos para anticuerpos anti-tirosina quinasa musculo especifica (anti-MusK). La evolución clínica fue favorable, hallándose más de la mitad de los casos en remisión o manifestaciones mínimas en la última visita. La mayoría requirió inmunosupresión para control de la sintomatología, el 78% recibió corticoides y el 48% un inmunosupresor no esteroideo.

Myasthenia gravis (MG) is an antibody-mediated autoimmune disease of the neuromuscular junction. The aim of this study was to evaluate clinical, epidemiological and serological features of patients with MG in a Public Hospital of Buenos Aires City. A retrospective analysis of 190 patients diagnosed with MG was performed. The mean age of MG onset was 38 years, 30% had late-onset MG (onset age > 50 years). The female/male ratio was 1.7 / 1. Disease started earlier in women than in men, mean 32 vs. 48 years (p < 0.0001). Familial autoimmune MG represented 3.2% of the cases. Most of the patients initiated their disease with a pure ocular form (52%). 12.1% (23/190) were considered ocular MG at follow-up. Thymoma-associated MG represented 11.6% of cases. 27.1% had other associated autoimmune disease, thyroid disorders were the most frequent. 81.4% were anti-acetylcholine receptor antibody (AChR-ab) positive MG; 22.7% of AChR-ab negatives were positive for anti-muscle specific kinase (MusK) antibodies. Clinical outcome was relatively good; more than half of cases were in remission or minimal manifestations at the last visit. The majority of patients required immunosuppression to control the symptoms, 78% received corticosteroids and 48%, a non-steroidal immunosuppressant.

Severe Spinal Injury in Hirayama Disease.

Hirayama disease is a rare neurological disorder characterized by an insidious progressive subacute unilateral or bilateral weakness of the hands and forearm muscles leading to a painless amyotrophy. The disease primarily affects young men in the second to third decades of life. It has always been described as a second motor neuron disease, thus sparing the pyramidal and sensitive pathways. It usually has a slow progression course of 3 to 5 years followed by stabilization. Since its initial description by Keyzo Hirayama in 1959, most cases have been reported in Asia, particularly Japan and India, although the disease reportedly has worldwide distribution.

Rendimiento neuropsicológico en pacientes con miastenia gravis / Rendimiento neuropsicológico en pacientes con miastenia gravis

La miastenia gravis es una enfermedad crónica, autoinmune que afecta la transmisión neuromuscular. Se han comunicado hallazgos contradictorios acerca del deterioro cognitivo en dicha enfermedad. El objetivo del presente estudio fue investigar el patrón cognitivo de pacientes con miastenia gravis. Participaron 24 pacientes con miastenia gravis, anticuerpos anti-receptor de acetilcolina (ACRA) positivos, y 24 controles. Pacientes: edad 43.9 ± 14.8, años de escolaridad 10.9 ± 3.3. Controles: edad 44.5 ± 15.4, años de escolaridad 11.5 ± 3.3. Se evaluaron las siguientes áreas: memoria verbal: (largo plazo almacenamiento, recuperación y recuerdo diferido) del test selectivo de memoria; atención: Paced Auditory Serial Addition Task (PASAT, 2 y 3 segundos); funciones ejecutivas (FE): analogías y secuencia números-letras. Se administró además el Inventario de Depresión de Beck II (IDB II). El 33.3% de los pacientes obtuvo un desempeño anómalo en dos o más test cognitivos. El 37.5% mostró deterioro en atención; 33.3% en memoria verbal; 29.2% en FE. Se encontraron diferencias significativas entre pacientes y controles en almacenamiento (p = 0.001); recuperación (p = 0.007); recuerdo diferido (p = 0.000); PASAT 3 (p = 0.009); PASAT 2 (p = 0.009); analogías (p = 0.003). Se encontró evidencia de depresión: leve en el 4.2 %; moderada en el 25% y grave en el 29.2%. El rendimiento neuropsicológico declina en los pacientes con miastenia gravis, encontrándose mayor alteración en la atención que en el resto de las áreas cognitivas.

Myasthenia gravis is a chronic autoimmune disease that affects the neuromuscular transmission. Controversial findings had been reported about cognitive impairment in this disease. The aim of this study was to investigate the cognitive pattern of patients with myasthenia gravis. There were enrolled 24 patients with myasthenia gravis, anti-acetylcholine receptor antibodies (ACRA) positive, and 24 healthy controls. Patients: age 43.9 ± 14.8, years of education 10.9 ± 3.3. Controls: age 44.5 ± 15.4, years of education 11.5 ± 3.3. The following areas were evaluated: verbal memory: (long-term storage, retrieval, delayed recall) of the Selective Remained Test; attention: Paced Auditory Serial Addition Task (PASAT 2 and 3 seconds); executive functions: analogies and numbers-letters sequence. Also, it was administered the Beck Depression Inventory II (BDI II). About 33.3% of patients obtained abnormal performance in two or more cognitive tests. 37.5% showed deterioration in attention; 33.3% in verbal memory; 29.2% in executive functions. Significant differences between patients and healthy controls were found in long-term storage (p = 0.001); retrieval (p = 0.007); delayed recall (p = 0.000); PASAT 3 (p = 0.009); PASAT 2 (p = 0.009) and analogies (p = 0.003). Evidence of depression was found: mild in 4.2% of patients; moderate in 25% and severe in 29.2%. Neuropsychological performance declines in patients with myasthenia gravis: attention was more affected than other cognitive areas.

Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis.

We performed a molecular epidemiology study in a population of 105 mesial temporal lobe epilepsy with hippocampal sclerosis (MTE-HS) patients in order to investigate the role of a polymorphism in the serotonin transporter gene (SLC6A4) in the prediction of antiepileptic drug (AED) treatment response. Homozygous carriers of the 12-repeat allele had an almost fourfold increase in risk for a MTE-HS not responding to medical treatment (OR 3.88; CI 95% 1.40-10.7; p=0.006) compared to carriers of the 10-repeat allele. Therefore, a polymorphism of SLC6A4 might be a genetic marker of pharmacoresistance in MTE-HS patients.