Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) in Chile: lessons learned from challenging cases.

BACKGROUND: Anti-Myelin Oligodendrocyte Glycoprotein (MOG) Antibody Associated Disease (MOGAD) is an emerging disorder recognized as a clinical entity distinct from Multiple Sclerosis and Aquaporin-4-positive Neuromyelitis Optica Spectrum Disorders (NMOSD-AQP4+), and its phenotypic spectrum continues to expand. Most information about its clinical course has emerged from retrospective studies, and treatment response both in acute and chronic-relapsing disease is still limited. We aimed to describe the clinical and paraclinical characteristics of monophasic and relapsing, paediatric and adult patients with MOGAD under regular clinical care in Chile, highlighting some challenging cases that are far from being considered benign. METHODS: Observational, retrospective, and prospective longitudinal multicentre study including patients with positive serum MOG-IgG assessed by cell-based assay. RESULTS: We include 35 patients, 71% women, median age at onset 30 years (range 1-68), 23% had paediatric onset, with a median disease-duration 24 months (range 12-348). In the whole cohort, the most frequent symptoms at onset were isolated optic neuritis (ON) (34%) and myelitis (22%). Encephalitis with seizures or encephalomyelitis was the most common presentation in paediatric-onset patients 75% (n = 6), compared to 11% (n = 3) of the adult-onset patients (p < 0.001). A relapsing course was observed in 34%, these patients were younger (25 vs. 34 years, p = 0.004) and with a longer disease duration (64 vs. 6 months, p = 0.004) compared to monophasic patients. Two patients developed encephalitis with seizures/status epilepticus, with concomitant positive CSF anti-NMDAR-IgG. Chronic immunotherapy was ever prescribed in 77%, the most frequent was rituximab (35%). Relapses under chronic immunotherapy occurred in 5/27 patients (18.5%), two of them under rituximab, one paediatric patient who started combined therapy with monthly IVIG and one adult patient that switched to satralizumab plus mycophenolate. The median EDSS at the last follow-up was 1.5 (range 0-6.0). CONCLUSION: In Chile, patients with MOGAD exhibit a wide spectrum of clinical presentations at disease onset and during relapses. Close monitoring is needed, particularly in younger patients with short follow-up periods.

Sociodemographic and clinical characteristics of people with multiple sclerosis and neuro-myelitis optica spectrum disorder in a central northern region of Chile: A prevalence study.

BACKGROUND: There is a scarcity of information on the prevalence of demyelinating diseases in Chile and other Latin American countries. The aim of this study was to determine the prevalence of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in a region of central-northern Chile. METHODS: A cross-sectional study was performed. All patients in the region with a confirmed diagnosis of MS or NMOSD under control of the program by the end of 2020 and were included in the study, totalling sixty patients with a diagnosis of MS and eight patients with NMOSD. Sociodemographic and clinical variables for these patients were recorded by the neurologists in charge of the MS programs at each public and private facility in the Coquimbo region between January and March of 2021. RESULTS: The prevalence of MS was 7.18 per 100,000 inhabitants (95% CI: 5.36‒8.99) and NMOSD, 0.95 per 100,000 population (95% CI: 0.9‒1.62). Both diseases were several times more prevalent in women than in men (female/male ratio: MS, 5:1 and NMOSD, 7:1). The mean age at diagnosis was 32.2 for MS and 32.2 years for NMOSD. No relevant risk factors were identified. In terms of the type of MS, 86.6% patients had a diagnosis of relapsing-remitting MS, 6.7% had primary progressive MS, and 6.7% had secondary progressive MS. Overall, 20% of patients with MS and 12.5% with NMOSD presented score over 5 in the Expanded Disability Status Scale, and 87.5% of the NMOSD patients were receiving rituximab. CONCLUSION: The prevalence of demyelinating diseases in a central-northern region of Chile corresponds to the reported rates for other Latin American countries. This is an important contribution, given the scarcity of evidence on the prevalence of demyelinating diseases in Chile. These illnesses mainly affect young adult women and are a cause of disability among productive adults.

Trastornos del sueño en emergencias y desastres / Sleep disorders in emergencies and disasters

Los trastornos del sueño son frecuentes en la población y una causa importante de morbilidad. El objetivo de esta revisión es evaluar las alteraciones del sueño en periodos de emergencia y desastres. A lo largo de la historia, la esfera biopsicosocial y el sueño de las personas ha sido abrumada por múltiples eventos a gran escala, tales como desastres naturales, tragedias provocadas por el hombre, conflictos bélicos, crisis sociales y pandemias, cuya experiencia puede derivar en problemas de salud a corto, mediano y/o largo plazo. En los estudios analizados, se ha observado el impacto negativo de las emergencias y desastres en el sueño, por lo que ha cobrado gran relevancia la difusión y promoción de medidas que incentiven el buen dormir. Debido a la llegada del COVID-19 y a la situación de confinamiento por periodos prolongados en el hogar para prevenir su propagación, han surgido importantes consecuencias a nivel social. Ciertos factores ocupacionales y características de los desastres se asocian a mayor comorbilidad, un alto riesgo de experimentar agotamiento físico, trastornos psicológicos e insomnio en grupos altamente vulnerables, como lo son los profesionales de la salud, rescatistas y socorristas. El insomnio es el trastorno de sueño más frecuente en la población general y su empeoramiento en el contexto de pandemia por COVID-19 representa un nuevo problema en salud pública. Es por ello, que es indispensable promover campañas de prevención de salud física y mental orientados a la pesquisa precoz y manejo de patologías de la esfera psicosocial, dentro de las posibilidades socioeconómicas.

Sleep disorders are common in the population and are major cause of morbidity. The objective of this review is to assess sleep disturbances in times of emergency and disasters. Throughout history, the biopsychosocial field and sleep have been affected by multiple large-scale events, such as natural disasters, man-caused tragedies, armed conflicts, social crises and pandemics, the experience of which can lead to short, medium and/or long term health problems. In several studies, the negative impact of emergencies and disasters on sleep have been analyzed, emphasizing the importance of the diffusion and promotion of measures that encourage good sleep. The arrival of COVID-19 and consequent home confinement for prolonged periods caused important social consequences. Certain occupational factors and characteristics of disasters are associated with greater comorbidity: a high risk of experiencing physical exhaustion, psychological disorders and insomnia, especially in highly vulnerable groups, such as health professionals, rescuers and first aids-responders. Insomnia is the most frequent sleep disorder in the general population and its worsening in the context of the COVID-19 pandemic, represents a new public health problem. It is essential to promote physical and mental health prevention campaigns, aimed at early screening and management of pathologies in the psychosocial sphere, within socioeconomic possibilities.

Trastornos del sueño en pacientes con Esclerosis Múltiple: Fisiopatología y clínica / Sleep disorders in patients with Multiple Sclerosis: Pathophysiology and clinic

Resumen Los pacientes con Esclerosis múltiples tienen mayor tasa de trastornos del sueño que la población general. Los trastornos del sueño más prevalentes son: somnolencia diurna, insomnio, síndrome de piernas inquietas, trastornos respiratorios del sueño y narcolepsia. Los principales factores involucrados en la calidad del sueño en estos pacientes son la nicturia, dolor inespecífico, depresión, efectos colaterales de las terapias, ubicación de las lesiones y severidad de la enfermedad. La presencia de estos trastornos contribuyen de forma significativa a la reducción en la calidad de vida y funcionalidad diurna. A pesar de su alta frecuencia, está demostrado que los trastornos del sueño en estos pacientes son subdiagnosticados. Esta revisión, busca hacer un repaso de los trastornos del sueño más frecuentes en pacientes con esclerosis múltiple, su fisiopatología y clínica.

Sleep disorders occur in multiple sclerosis patients at higher frequency than the general population. Among sleep disorders; daytime sleepiness, insomnia, restless legs syndrome, sleep disordered breathing and narcolepsy have all been reported to be more frequent in multiple sclerosis patients. Factors that influence the quality of sleep in this population include pain, nycturia, depression, medication effects, location of lesions, and disease severity. Sleep disorders have the potential to negatively impact overall health and quality of life in these patients. Sleep disorders in multiple sclerosis patients are known to be clinically underdiagnosed. High suspicion of this condition is pivotal to prompt diagnosis and treatment. The aim of this paper is to review pathophysiology and clinical aspect of the most frequent sleep disorders in multiples sclerosis patients.

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status.

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder with heterogeneous clinical expression in female patients ranging from asymptomatic to severe clinical presentations as in classic males. We assessed clinical profiles and compared natural history data of female patients eventually initiated on enzyme replacement therapy ("ERT-recipients") with those remaining untreated ("ERT-naïve"). METHODS: We analyzed Fabry Registry data from 93 ERT-recipients, collected prior to ERT initiation, and 76 ERT-naïve females with classic or unclassified phenotypes from four Latin American countries and evaluated Fabry symptoms, interventricular septum thickness, left ventricular posterior wall thickness, estimated glomerular filtration rate, and severe clinical events. RESULTS: For 169 patients with available data, median age of first Fabry symptom manifestation was 12.7 years with peripheral pain as predominant first symptom, and diagnostic delay of 10.3 years from the first reported symptom. Female patients had high symptomatic burden during natural history follow-up, with 83% reporting peripheral pain, 69%-79% cold/heat intolerance or abnormal sweating, and 32% gastrointestinal symptoms. ERT-recipients reported similar age at first symptom as ERT-naïve patients but they were older at diagnosis (median 39.2 vs 24.4 years, P < .01) and last follow-up (median 43.4 vs 28.2 years, P < .01). Reported Fabry symptom frequencies and abnormal echocardiography findings were higher in ERT-recipients. Functional renal assessments were normal and similar. CONCLUSIONS: Female patients from Latin America have notable diagnostic delays and high symptomatic burden. ERT was prescribed late in females with advanced age at diagnosis and advanced disease. There remained many female patients who had been diagnosed at younger age, had substantial Fabry manifestations, but did not receive disease-specific treatment.