Electrodiagnostic subtyping in Guillain-Barré syndrome patients in the International Guillain-Barré Outcome Study.

BACKGROUND AND PURPOSE: Various electrodiagnostic criteria have been developed in Guillain-Barré syndrome (GBS). Their performance in a broad representation of GBS patients has not been evaluated. Motor conduction data from the International GBS Outcome Study (IGOS) cohort were used to compare two widely used criterion sets and relate these to diagnostic amyotrophic lateral sclerosis criteria. METHODS: From the first 1500 patients in IGOS, nerve conduction studies from 1137 (75.8%) were available for the current study. These patients were classified according to nerve conduction studies criteria proposed by Hadden and Rajabally. RESULTS: Of the 1137 studies, 68.3% (N = 777) were classified identically according to criteria by Hadden and Rajabally: 111 (9.8%) axonal, 366 (32.2%) demyelinating, 195 (17.2%) equivocal, 35 (3.1%) inexcitable and 70 (6.2%) normal. Thus, 360 studies (31.7%) were classified differently. The areas of differences were as follows: 155 studies (13.6%) classified as demyelinating by Hadden and axonal by Rajabally; 122 studies (10.7%) classified as demyelinating by Hadden and equivocal by Rajabally; and 75 studies (6.6%) classified as equivocal by Hadden and axonal by Rajabally. Due to more strictly defined cutoffs fewer patients fulfilled demyelinating criteria by Rajabally than by Hadden, making more patients eligible for axonal or equivocal classification by Rajabally. In 234 (68.6%) axonal studies by Rajabally the revised El Escorial (amyotrophic lateral sclerosis) criteria were fulfilled; in axonal cases by Hadden this was 1.8%. CONCLUSIONS AND DISCUSSION: This study shows that electrodiagnosis in GBS is dependent on the criterion set utilized, both of which are based on expert opinion. Reappraisal of electrodiagnostic subtyping in GBS is warranted.

Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease.

INTRODUCTION: Fabry disease (FD) is an X-linked lysosomal storage disorder affecting glycosphingolipid metabolism. Most FD patients have cardiac involvement, mainly manifested as left ventricular hypertrophy (LVH), leading to early death due to complications (arrhythmias, valvular disease, vascular involvement). Early initiation of enzyme replacement therapy (ERT) before fibrosis development has been associated with better cardiac outcomes in terms of left ventricular mass index (LVMI) and functional parameters. METHODS: A retrospective observational study was conducted in patients with FD treated with agalsidase alfa for at least 2 years. The primary objectives were: [a] to assess the annual rate of change in LVMI; [b] to define the overall incidence of stability, regression or progression of LVMI. RESULTS: Forty-nine patients were included in the final analysis, with a median follow-up of 7 years. The overall change in LVMI was 0.38 g/m2.73/year, without significant influence of baseline LVH, gender, age at ERT initiation, LV ejection fraction, body mass index, renal disease, and classical cardiovascular risk factors. Long-term ERT with agalsidase alfa was associated with stabilization of LVMI in 98% of patients with FD and was independent of the same covariables. CONCLUSION: Our results are in line with previous literature of comparable FD populations and probably represent the first study of its kind in Argentina. We here highlight the importance of cardiac morphometric stability as a positive outcome of ERT.

Introducción: La enfermedad de Fabry (EF) es una enfermedad de almacenamiento lisosomal ligada al cromosoma X que afecta el metabolismo de glicoesfingolípidos. La mayoría de pacientes EF tienen afectación cardíaca, manifestada principalmente como hipertrofia ventricular izquierda (HVI), que conduce a muerte prematura secundaria a complicaciones (arritmias, valvulopatías, afectación vascular). El tratamiento de reemplazo enzimático (TRE) precoz, iniciado antes del desarrollo de la fibrosis, se relaciona con mejores resultados cardíacos en términos del índice de masa ventricular izquierda (IMVI) y parámetros funcionales. Métodos: Se realizó un estudio retrospectivo observacional en que se incluyeron pacientes con EF tratados con agalsidasa alfa por al menos 2 años. Los objetivos primarios fueron: [a] evaluar el cambio anual del IMVI; [b] definir la incidencia global de estabilidad, regresión o progresión del IMVI. Resultados: Se incluyeron 49 pacientes, con seguimiento (mediana) de 7 años. El cambio global en el IMVI fue 0.38 g/m2.73/año, sin influencia significativa de HVI basal, sexo, edad de inicio de TRE, fracción de eyección del VI, índice de masa corporal, insuficiencia renal y factores de riesgo cardiovascular clásicos. La TRE a largo plazo con agalsidasa alfa se relacionó con la estabilización del IMVI en el 98% de los pacientes con EF, independientemente de las mismas covariables. Conclusión: Nuestros resultados están en línea con la bibliografía previa de poblaciones comparables y, probablemente, representan el primer estudio de este tipo en Argentina. Se destaca la importancia de la estabilidad morfométrica cardíaca como resultado positivo de la TRE.

High-flow carotid cavernous fistula and 'white eye': A rare and easily misdiagnosed presentation - A case report and literature review.

The three classic symptoms of carotid cavernous fistula (CCF) are pulsating exophthalmos, bruit and conjunctival chemosis. Here, we present a clinical case of isolated abducens nerve palsy due to a high-flow CCF in an 84-year-old woman, without the typical congestive orbito-ocular features. It was a diagnostic challenge because, for patients older than 50 years with cardiovascular risk factors, ischaemic mononeuropathy is the most frequent aetiology. This case illustrates the least common type of CCF that can be easily misdiagnosed. Physicians should consider fistula as a possible diagnosis in a patient with isolated abducens nerve palsy even without the classic triad.

Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease: Insights from Real-World Data.

The clinical use of agalsidase alfa as enzyme replacement therapy (ERT) for Fabry disease (FD) has spread since 2001, and a large body of evidence of its effectiveness has been collected. This review presents the clinical and laboratory results achieved with agalsidase alfa, which has been published in the literature. Agalsidase alfa infusion slows down or stops the progression of renal damage, expressed by reduction or stabilization of the annual decline of the glomerular filtration rate; yearly decrease of glomerular filtration rate (slope) sometimes is reduced until its stabilization. ERT prevents or reduces the occurrence of hypertrophic cardiomyopathy or slows the increase over time if it is already present. Moreover, regarding neurological manifestations, ERT improves neuropathic pain and quality of life, and recent data indicated that it may also prevent the burden of cerebrovascular disease. In addition to ERT's clinical benefits, crucial topics like the most appropriate time to start therapy and the role of anti-drug antibodies (ADA) are analyzed. Treatment with agalsidase alfa in patients with FD substantially improves their outcomes and enhances their quality of life in patients with FD.

[Cerebral infarction in young patients: clinical characteristics and evolution in an Argentine cohort]. / Infarto cerebral en pacientes jóvenes: características clínicas y evolución en una cohorte argentina.

INTRODUCTION: Stroke (CVA) in young adults comprises approximately 10% of all cerebrovascular events. The information available on the recurrence of a new event in this population and particularly in Latin America is limited. Our objective was to examine the presence of stroke recurrence after having presented a stroke. METHODS: A retrospective cohort study was carried out, including patients with arterial cerebral infarctions between the ages of 18 and 55, between January 2005 and May 2020. The main outcome was the recurrence of a cerebrovascular attack. RESULTS: 138 patients were included during a median follow-up of 24 months. The 52.2% (n = 72) were male patients and 73.4% (n = 94) had an initial NIHSS score of less than 4. The 38% (n = 52) had a history of arterial hypertension and 13, 1% (n = 18) history of previous stroke / TIA. 13% (n = 18) presented recurrence during their follow-up. DISCUSSION: The recurrence of neurovascular events occurs predominantly in patients with a history of previous stroke/TIA, probably secondary to diseases that are difficult to diagnose.

Introducción: El ataque cerebral (ACV) en adultos jóvenes comprende aproximadamente el 10% de todos los eventos cerebrovasculares. La información disponible sobre la recurrencia de un nuevo evento en esta población y particularmente en Latinoamérica es limitada. Nuestro objetivo fue examinar la presencia de recurrencia de ACV luego de haber presentado un infarto cerebral. Métodos: Se realizó un estudio de cohorte retrospectivo, incluyendo pacientes con infartos cerebrales arteriales en edades comprendidas entre 18 y 55 años, entre enero de 2005 a mayo de 2020. El resultado principal fue la recurrencia de un ataque cerebrovascular. Resultados: Se incluyeron 138 pacientes durante una mediana de seguimiento de 24 meses. El 52.2% (n = 72) de sexo masculino y el 73,4% (n = 94) tuvo un NIHSS inicial menor a 4. El 38% (n = 52) tenía antecedentes de hipertensión arterial y 13,1% (n = 18) antecedentes de ACV / ataque isquémico transitorio (AIT) previo. El 13% (n = 18) presento recurrencia durante su seguimiento. Discusión: La recurrencia de los eventos neurovasculares ocurren predominantemente en pacientes con antecedentes de ACV/AIT previo, probablemente secundario a enfermedades de difícil diagnóstico.

Infarto cerebral en pacientes jóvenes: características clínicas y evolución en una cohorte Argentina / Cerebral infarction in young patients: clinical character istics and evolution in an Argentine cohort

Resumen Introducción : El ataque cerebral (ACV) en adultos jó venes comprende aproximadamente el 10% de todos los eventos cerebrovasculares. La información disponible so bre la recurrencia de un nuevo evento en esta población y particularmente en Latinoamérica es limitada. Nuestro objetivo fue examinar la presencia de recurrencia de ACV luego de haber presentado un infarto cerebral. Métodos : Se realizó un estudio de cohorte retros pectivo, incluyendo pacientes con infartos cerebrales arteriales en edades comprendidas entre 18 y 55 años, entre enero de 2005 a mayo de 2020. El resultado principal fue la recurrencia de un ataque cerebro vascular. Resultados: Se incluyeron 138 pacientes durante una mediana de seguimiento de 24 meses. El 52.2% (n = 72) de sexo masculino y el 73,4% (n = 94) tuvo un NIHSS inicial menor a 4. El 38% (n = 52) tenía antecedentes de hipertensión arterial y 13,1% (n = 18) antecedentes de ACV / ataque isquémico transitorio (AIT) previo. El 13% (n = 18) presento recurrencia durante su seguimiento. Discusión : La recurrencia de los eventos neurovas culares ocurren predominantemente en pacientes con antecedentes de ACV/AIT previo, probablemente secun dario a enfermedades de difícil diagnóstico.

Abstract Introduction : Stroke (CVA) in young adults comprises approximately 10% of all cerebrovascular events. The information available on the recurrence of a new event in this population and particularly in Latin America is limited. Our objective was to examine the presence of stroke recurrence after having presented a stroke. Methods : A retrospective cohort study was carried out, including patients with arterial cerebral infarctions between the ages of 18 and 55, between January 2005 and May 2020. The main outcome was the recurrence of a cerebrovascular attack. Results : 138 patients were included during a median follow-up of 24 months. The 52.2% (n = 72) were male patients and 73.4% (n = 94) had an initial NIHSS score of less than 4. The 38% (n = 52) had a history of arterial hypertension and 13, 1% (n = 18) history of previous stroke / TIA. 13% (n = 18) presented recurrence during their follow-up. Discussion : The recurrence of neurovascular events occurs predominantly in patients with a history of previ ous stroke/TIA, probably secondary to diseases that are difficult to diagnose.

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.

Cyclosporine-induced erythromelalgia.

Erythromelalgia is a rare syndrome characterised by recurrent erythema, heat and burning pain in the extremities. There are two types: primary (genetic) and secondary (toxic, drug-related or associated with other diseases). We report a 42-year-old woman who developed erythromelalgia after taking cyclosporine for myasthenia gravis. Although exact mechanism for this rare adverse effect is unclear, it is reversible, and so clinicians should be aware of the association . Additional use of corticosteroids could aggravate cyclosporine's toxic effects.

[Clinical Practice Guidelines for diagnosis of organic involvement of amyloidosis: Part 3/3 Year 2020] / Guía de Práctica Clínica para el diagnóstico de compromiso orgánico en amiloidosis: Parte 3/3 Año 2020.

Method: Use the PICO format to generate a series of questions, focusing on the specificity and sensitivity of the amyloidosis diagnostic test. PubMed searches were conducted in English and Spanish from July to August 2019. The level of evidence and recommendation are based on the GRADE system (http://www.gradeworkinggroup.org/index.htm). The recommendations are graded according to their direction (for or against) and strength (strong and weak). Finally, it is recommended to use GLIA tools to evaluate the obstacles and facilitators in implementation. Suggested explanation A strong suggestion indicates a high degree of trust in support or opposition to the intervention. When defining a strong recommendation, this guide uses the "recommended" language. The weaker recommendations indicate that the outcome of the intervention (favorable or unfavorable) is doubtful. In this case, if a weak recommendation is defined, the "recommendation" language is used. How to use these guidelines: Recommendations must be explained within the scope of special care in validated diagnostic studies conducted by specially trained doctors. It is not assumed to change the coexistence conditions of the disease process. Presumably, the attending physician has a high degree of suspicion of amyloidosis. It assumes that diagnostic research is conducted by well-trained doctors using a validated standardized method. This guide is intended for health care professionals and those involved in health care policies to help ensure that the necessary agreements have been reached to provide appropriate care. Summary of recommendations For patients with suspected amyloidosis, it is recommended: Measured value of creatinine be used as a preliminary assessment for the diagnosis of renal involvement in patients with suspected renal amyloidosis. 24-hour proteinuria be measured and characterized to diagnose renal involvement in patients with suspected renal amyloidosis. Immunohistochemical staining of skin biopsy for patients genetically diagnosed with ATTR, for early diagnosis of neuropathy. The signs or symptoms of these patients suggest the presence of fine fiber neuropathy. Skin biopsy and immunohistochemical staining for early diagnosis of neuropathy. These patients show signs or symptoms suggesting fine fiber neuropathy. Conduct nerve conduction studies on motor and sensory fibers to diagnose total fiber neuropathy in patients who are diagnosed or suspected of having amyloidosis. Test (Sudoscan) is recommended for the early diagnosis of peripheral autonomic neuropathy (even in asymptomatic patients) in patients with suspected autonomic neuropathy due to amyloidosis. Ewing's standard to measure heart rate variability to diagnose autonomic hypofunction in patients with autonomic neuropathy suspected of having amyloidosis. Measure orthostatic hypotension to diagnose early autonomic hypotension for patients with amyloidosis or systemic amyloidosis suspected of autonomic neuropathy. It is suggested: QST test to diagnose neuropathy early for patients genetically diagnosed with ATTR, if they show signs or symptoms suggesting fine fiber neuropathy Measure alkaline phosphatase to initially assess liver involvement in patients with amyloidosis.

Métodos: Se generó un listado de preguntas con el formato PICO centradas en la especificidad y sensibilidad de las pruebas diagnósticas en amiloidosis. Se realizó la búsqueda en PubMed durante julio-agosto del 2019, en inglés y español. Los niveles de evidencia y los grados de recomendación se basan en el sistema GRADE (http://www.gradeworkinggroup.org/index.htm). Las recomendaciones se graduaron según su dirección (a favor o en contra) y según fuerza (fuertes y débiles). Las recomendaciones finales fueron evaluadas con la herramienta GLIA para barreras y facilitadores en la implementación de éstas. Interpretación de recomendaciones: Las recomendaciones fuertes indican alta confianza, ya sea a favor o en contra, de una intervención. En esta guía se utiliza el lenguaje "se recomienda" cuando se define una recomendación fuerte. Las recomendaciones débiles indican que los resultados para una intervención, favorable o desfavorable, son dudosos. En este caso, se utiliza el lenguaje "se sugiere", cuando se define una recomendación débil.Cómo utilizar estas pautas: Las recomendaciones deben ser interpretadas en el contexto de la atención especializada, con estudios diagnósticos validados y realizados por médicos entrenados. Se asume que el médico tratante tiene alto nivel de sospecha de amiloidosis. No asume condiciones coexistentes que modifican el curso de la enfermedad. Asume que los estudios diagnósticos son realizados por médicos entrenados con métodos validados y estandarizados. Esta guía es relevante para los profesionales de la salud y los involucrados en las políticas sanitarias, para ayudar a asegurar que existan los acuerdos necesarios para brindar la atención adecuada. Resumen de recomendaciones En pacientes con sospecha de amiloidosis se recomienda: Medición de la creatinina como evaluación inicial para el diagnóstico del compromiso renal en el paciente con sospecha de amiloidosis renal. Medición y caracterización de la proteinuria de 24 hs para el diagnóstico de compromiso renal en pacientes con sospecha de amiloidosis renal. Biopsia de piel con tinción inmunohistoquímica para el diagnóstico precoz de neuropatía en pacientes con diagnóstico genético de ATTR, que presenten signos o síntomas sugestivos de neuropatía de fibra fina. Biopsia de piel con tinción inmunohistoquímica para el diagnóstico precoz de neuropatía en pacientes con sospecha de amiloidosis, que presenten signos o síntomas sugestivos de neuropatía de fibra fina. Estudios de conducción nerviosa evaluando fibras motoras y sensitivas para el diagnóstico de neuropatía de fibras gruesas en pacientes con diagnóstico o sospecha de amiloidosis. Prueba de QST para el diagnóstico precoz de neuropatía en pacientes con diagnóstico genético de ATTR, que presenten signos o síntomas sugestivos de neuropatía de fibras finas. Test de cuantificación sudorípara (Sudoscan) para diagnóstico precoz de neuropatía autonómica periférica (incluso en asintomáticos) en pacientes con sospecha de neuropatía autonómica por amiloidosis. Medición de la variabilidad de la frecuencia cardiaca con criterios de Ewing para el diagnóstico de disautonomía en pacientes con sospecha de neuropatía autonómica por amiloidosis. Medición de hipotensión ortostática con técnica adecuadamente estandarizada para el diagnóstico precoz de compromiso autonómico en el paciente con sospecha de neuropatía autonómica por amiloidosis o diagnóstico de amiloidosis sistémica Se sugiere: Prueba de QST para el diagnóstico precoz de neuropatía en pacientes con amiloidosis o sospecha de amiloidosis, que presenten signos o síntomas sugestivos de neuropatía de fibras finas. Medición de fosfatasa alcalina para evaluación inicial del compromiso hepático en el paciente con amiloidosis.

Resultados del tratamiento quirúrgico en neoplasias epiteliales de timo / Outcomes of surgical treatment for thymic epithelial neoplasms

Resumen Las neoplasias epiteliales del timo (NET) son tumores infrecuentes. El manejo inicial de las mismas se basa en el análisis de la resecabilidad del tumor en los estudios por imágenes, siendo la resección completa el tratamiento estándar para cualquier estadio. El objetivo principal fue evaluar la supervivencia global y la supervivencia libre de enfermedad de los pacientes con diagnóstico de NET sometidos a tratamiento quirúrgico. El objetivo secundario fue comparar la supervivencia global de acuerdo al tipo de resección quirúrgica, el estadio de Masaoka-Koga y subtipo histológico. Estudio observacional descriptivo realizado en el Hospital Británico de Buenos Aires desde 2004 a 2020. Se incluyeron 42 pacientes operados de tumores en mediastino anterior con diagnóstico histopatológico definitivo de NET. Treinta y nueve eran timomas y 3 carcinomas tímicos. La cirugía realizada en todos los pacientes fue una timectomia total. La mediana de seguimiento fue de 63.5 meses (RIQ 32-97.5). La supervivencia global estimada a los cinco y diez años fue del 87% (95% IC, 0.69-0.95) y 78% (95% IC, 0.5-0.92), respectivamente. La supervivencia libre de enfermedad estimada a cinco y diez años fue del 90% (95% IC, 0.74-0.96). Los pacientes a los que se le realizó una resección completa y que tenían estadios tem pranos de Masaoka-Koga presentaron una supervivencia global superior en comparación con las resecciones incompletas y estadios avanzados (p = 0.0097 y p = 0.0028, respectivamente). Al contar con un bajo número de pacientes en el grupo de carcinomas tímicos, no pudimos sacar conclusiones en cuanto a supervivencia entre éstos y los timomas.

Abstract Thymic epithelial tumors are a group of rare neoplasms of the mediastinum. When resectable, complete resection is considered the gold standard for any stage. The primary endpoint was to evaluate overall survival and disease-free survival of patients with thymus epithelial tumors who underwent surgical treatment. The secondary endpoint was to evaluate and compare the overall survival according to: resection type (complete vs. incomplete), Masaoka-Koga stage and tumor histology according to WHO classification. This is a descriptive observational study from January 2004 to December 2020, in which 42 patients with a postoperative histopathological diagnosis of thymic epithelial tumours were included. Thirty-nine were thymomas (92.9%) and 3 were thymic carcinomas (7.1%). In all patients a total thymectomy was performed. The median follow-up was 63.5 months (IQR 32-97.5). The estimated overall survival at five and ten years was 87% (95% CI, 0.69-0.95) and 78% (95% CI, 0.5-0.92), respectively. Estimated disease-free survival at five and ten years was 90% (95% CI, 0.74-0.96). Patients who underwent complete resection and with early Masaoka-Koga stages had superior overall survival compared to incomplete resections and advanced Masaoka-Koga stages (p = 0.0097 and p = 0.0028, respectively). We found no differences in terms of survival between histological subtypes due to a low number of patients in the thymic carcinoma group.

Síndrome de Claude: III par incompleto y ataxia contralateral / Claude syndrome: Incomplete third cranial nerve palsy and contralateral ataxia

Resumen Los accidentes cerebrovasculares mesencefálicos son poco frecuentes y por lo general están acompañados de otras lesiones concomitantes. La presencia simultánea de signos ipsi y contrala terales obliga a pensar en un síndrome alterno por compromiso del tronco encefálico. La resonancia magnética nuclear es el estudio de elección para caracterizar y localizar la lesión. Presentamos el caso de un hombre de 71 años que sufrió parálisis del tercer par derecho y hemiataxia izquierda, cuadro infrecuente, conocido como síndrome de Claude.

Abstract Midbrain strokes are rare and are usually accompanied by other concomitant injuries. The simultaneous presence of ipsi and contralateral signs makes it necessary to think of a brainstem syndrome due to involvement of the brainstem. Mag netic nuclear resonance is the study of choice to characterize and locate the lesion. We report the case of a 71-year-old man who presented right third cranial nerve palsy and hemiataxia, a rare condition known as Claude's syndrome.

Electrodiagnostic subtyping in Guillain-Barré syndrome: Use of criteria in practice based on a survey study in IGOS.

Electrodiagnostic (EDx) studies are helpful in diagnosing and subtyping of Guillain-Barré syndrome (GBS). Published criteria for differentiation into GBS subtypes focus on cutoff values, but other items receive less attention, although they may influence EDx subtyping: (a) extensiveness of EDx testing, (b) nerve-specific considerations, (c) distal compound muscle action potential (CMAP)-amplitude requirements, (d) criteria for conduction block and temporal dispersion. The aims of this study were to investigate how these aspects were approached by neuromuscular EDx experts in practice and how this was done in previously published EDx criteria for GBS. A completed questionnaire was returned by 24 (of 49) members of the electrophysiology expertise group from the International GBS Outcome Study. Six published EDx criteria for GBS subtyping were compared regarding these aspects. The indicated minimal number of motor nerves to study varied among respondents and tended to be more extensive in equivocal than normal studies. Respondents varied considerably regarding usage of compression sites for subtyping (median/wrist, ulnar/elbow, peroneal/fibular head): 29% used all variables from all sites, 13% excluded all sites, and 58% used only some sites and/or variables. Thirty-eight percent of respondents required a minimal distal CMAP amplitude to classify distal motor latency as demyelinating, and 58% did for motor conduction velocity. For proximal/distal CMAP-amplitude ratio and F-wave latency, a requisite minimal CMAP amplitude was more often required (79%). Also, the various published criteria sets showed differences on all items. Practical use of EDx criteria for subtyping GBS vary extensively across respondents, potentially lowering the reproducibility of GBS subtyping.

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

BACKGROUND: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD. RESULTS: FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding in future rare disease real-world evidence studies. CONCLUSION: FOS over the last 20 years has substantially increased the scientific knowledge around improved patient management of FD and continues to expand our understanding of this rare disease.

[Outcomes of surgical treatment for thymic epithelial neoplasms]. / Resultados del tratamiento quirúrgico en neoplasias epiteliales de timo.

Thymic epithelial tumors are a group of rare neoplasms of the mediastinum. When resectable, complete resection is considered the gold standard for any stage. The primary endpoint was to evaluate overall survival and disease-free survival of patients with thymus epithelial tumors who underwent surgical treatment. The secondary endpoint was to evaluate and compare the overall survival according to: resection type (complete vs. incomplete), Masaoka-Koga stage and tumor histology according to WHO classification. This is a descriptive observational study from January 2004 to December 2020, in which 42 patients with a postoperative histopathological diagnosis of thymic epithelial tumours were included. Thirty-nine were thymomas (92.9%) and 3 were thymic carcinomas (7.1%). In all patients a total thymectomy was performed. The median follow-up was 63.5 months (IQR 32-97.5). The estimated overall survival at five and ten years was 87% (95% CI, 0.69-0.95) and 78% (95% CI, 0.5-0.92), respectively. Estimated diseasefree survival at five and ten years was 90% (95% CI, 0.74-0.96). Patients who underwent complete resection and with early Masaoka-Koga stages had superior overall survival compared to incomplete resections and advanced Masaoka-Koga stages (p = 0.0097 and p = 0.0028, respectively). We found no differences in terms of survival between histological subtypes due to a low number of patients in the thymic carcinoma group.

Las neoplasias epiteliales del timo (NET) son tumores infrecuentes. El manejo inicial de las mismas se basa en el análisis de la resecabilidad del tumor en los estudios por imágenes, siendo la resección completa el tratamiento estándar para cualquier estadio. El objetivo principal fue evaluar la supervivencia global y la supervivencia libre de enfermedad de los pacientes con diagnóstico de NET sometidos a tratamiento quirúrgico. El objetivo secundario fue comparar la supervivencia global de acuerdo al tipo de resección quirúrgica, el estadio de Masaoka-Koga y subtipo histológico. Estudio observacional descriptivo realizado en el Hospital Británico de Buenos Aires desde 2004 a 2020. Se incluyeron 42 pacientes operados de tumores en mediastino anterior con diagnóstico histopatológico definitivo de NET. Treinta y nueve eran timomas y 3 carcinomas tímicos. La cirugía realizada en todos los pacientes fue una timectomia total. La mediana de seguimiento fue de 63.5 meses (RIQ 32-97.5). La supervivencia global estimada a los cinco y diez años fue del 87% (95% IC, 0.69-0.95) y 78% (95% IC, 0.5-0.92), respectivamente. La supervivencia libre de enfermedad estimada a cinco y diez años fue del 90% (95% IC, 0.74-0.96). Los pacientes a los que se le realizó una resección completa y que tenían estadios tempranos de Masaoka-Koga presentaron una supervivencia global superior en comparación con las resecciones incompletas y estadios avanzados (p = 0.0097 y p = 0.0028, respectivamente). Al contar con un bajo número de pacientes en el grupo de carcinomas tímicos, no pudimos sacar conclusiones en cuanto a supervivencia entre éstos y los timomas.

[Claude syndrome: Incomplete third cranial nerve palsy and contralateral ataxia]. / Síndrome de Claude: III par incompleto y ataxia contralateral.

Midbrain strokes are rare and are usually accompanied by other concomitant injuries. The simultaneous presence of ipsi and contralateral signs makes it necessary to think of a brainstem syndrome due to involvement of the brainstem. Magnetic nuclear resonance is the study of choice to characterize and locate the lesion. We report the case of a 71-year old man who presented right third cranial nerve palsy and hemiataxia, a rare condition known as Claude's syndrome.

Los accidentes cerebrovasculares mesencefálicos son poco frecuentes y por lo general están acompañados de otras lesiones concomitantes. La presencia simultánea de signos ipsi y contralaterales obliga a pensar en un síndrome alterno por compromiso del tronco encefálico. La resonancia magnética nuclear es el estudio de elección para caracterizar y localizar la lesión. Presentamos el caso de un hombre de 71 años que sufrió parálisis del tercer par derecho y hemiataxia izquierda, cuadro infrecuente, conocido como síndrome de Claude.

Guía de práctica clínica de tratamiento de la polineuropatía amiloidótica familiar / Practice guideline for the treatment of familial amyloid polyneuropathy

Resumen Esta guía de práctica clínica de tratamiento de la polineuropatía amiloidótica familiar se basa en la mejor evidencia disponible de efectividad clínica. Se generó un listado de preguntas con formato PICO centradas en efectividad y seguridad del tratamiento de polineuropatía amiloidótica familiar. Se realizó la búsqueda en PubMed, Cochrane y Epistemonikos. Los niveles de evidencia y los grados de recomendación se basaron en el sistema GRADE. Las recomendaciones se graduaron según dirección y fuerza y se evaluaron con la herramienta GLIA para su implementación. Resumen de recomendaciones: En pacientes con polineuropatía amiloidótica familiar y neuropatía estadio I y II, se sugiere el tratamiento con inotersen 300 mg subcutáneo semanal o patisirán 0.3 mg/kg endovenoso una vez cada 3 semanas, dado que, probablemente, estabilicen o enlentezcan el avance de la neuropatía y el empeoramiento de la calidad de vida (calidad de la evidencia moderada; fuerza de la recomendación débil). En pacientes con polineruropatía amiloidótica familiar y neuropatía estadio I, se sugiere el tratamiento con tafamidis 20 mg vía oral, una vez por día, ya que podría enlentecer el avance de la neuropatía y el empeoramiento en la calidad de vida (calidad de la evidencia baja; fuerza de la recomendación débil), y aquellos con polineuropatía amiloidótica familiar y neuropatía sintomática y en ausencia de otros tratamientos con eficacia aprobada, se sugiere el tratamiento con diflunisal 250 mg dos veces al día, vía oral, ya que podría evitar la progresión de la neuropatía (calidad de la evidencia baja; fuerza de la recomendación débil).

Abstract. This clinical practice guideline for the treatment of familial amyloid polyneuropathy is based on the best available evi dence of clinical effectiveness. A list of questions was generated with a PICO format focused on the effectiveness and safety of the treatment of familial amyloid polyneuropathy. The search was carried out in PubMed, Cochrane and Epistemonikos. The levels of evidence and grades of recommendation were based on the GRADE system. Recommendations were graded according to their direction and their strength and were evaluated with the GLIA tool for their implementation. In patients with familial amyloid polyneuropathy and stage I and II neuropathy, it is suggested: inotersen 300 mg subcutaneous weekly or patisirán 0.3 mg/kg intravenously once every 3 weeks, since they probably stabilize or slow the progression of neuropathy and worsening quality of life (moderate qual ity of evidence; strength of recommendation weak). In patients with familial amyloid polyneuropathy and stage I neuropathy, treatment with tafamidis 20 mg orally, once a day, is suggested, as it could slow the progression of neuropathy and worsen quality of life (low quality of evidence; strength of recommendation weak). In patients with familial amyloid polyneuropathy and symptomatic neuropathy and in the absence of other treatments with approved efficacy, treatment with oral diflunisal 250 mg twice daily is suggested, as it could prevent the progres sion of neuropathy (quality evidence low; strength of recommendation weak).

[Practice guideline for the treatment of familial amyloid polyneuropathy]. / Guía de práctica clínica de tratamiento de la polineuropatía amiloidótica familiar.

This clinical practice guideline for the treatment of familial amyloid polyneuropathy is based on the best available evidence of clinical effectiveness. A list of questions was generated with a PICO format focused on the effectiveness and safety of the treatment of familial amyloid polyneuropathy. The search was carried out in PubMed, Cochrane and Epistemonikos. The levels of evidence and grades of recommendation were based on the GRADE system. Recommendations were graded according to their direction and their strength and were evaluated with the GLIA tool for their implementation. In patients with familial amyloid polyneuropathy and stage I and II neuropathy, it is suggested: inotersen 300 mg subcutaneous weekly or patisirán 0.3 mg/kg intravenously once every 3 weeks, since they probably stabilize or slow the progression of neuropathy and worsening quality of life (moderate quality of evidence; strength of recommendation weak). In patients with familial amyloid polyneuropathy and stage I neuropathy, treatment with tafamidis 20 mg orally, once a day, is suggested, as it could slow the progression of neuropathy and worsen quality of life (low quality of evidence; strength of recommendation weak). In patients with familial amyloid polyneuropathy and symptomatic neuropathy and in the absence of other treatments with approved efficacy, treatment with oral diflunisal 250 mg twice daily is suggested, as it could prevent the progression of neuropathy (quality evidence low; strength of recommendation weak).

Esta guía de práctica clínica de tratamiento de la polineuropatía amiloidótica familiar se basa en la mejor evidencia disponible de efectividad clínica. Se generó un listado de preguntas con formato PICO centradas en efectividad y seguridad del tratamiento de polineuropatía amiloidótica familiar. Se realizó la búsqueda en PubMed, Cochrane y Epistemonikos. Los niveles de evidencia y los grados de recomendación se basaron en el sistema GRADE. Las recomendaciones se graduaron según dirección y fuerza y se evaluaron con la herramienta GLIA para su implementación. Resumen de recomendaciones: En pacientes con polineuropatía amiloidótica familiar y neuropatía estadio I y II, se sugiere el tratamiento con inotersen 300 mg subcutáneo semanal o patisirán 0.3 mg/kg endovenoso una vez cada 3 semanas, dado que, probablemente, estabilicen o enlentezcan el avance de la neuropatía y el empeoramiento de la calidad de vida (calidad de la evidencia moderada; fuerza de la recomendación débil). En pacientes con polineruropatía amiloidótica familiar y neuropatía estadio I, se sugiere el tratamiento con tafamidis 20 mg vía oral, una vez por día, ya que podría enlentecer el avance de la neuropatía y el empeoramiento en la calidad de vida (calidad de la evidencia baja; fuerza de la recomendación débil), y aquellos con polineuropatía amiloidótica familiar y neuropatía sintomática y en ausencia de otros tratamientos con eficacia aprobada, se sugiere el tratamiento con diflunisal 250 mg dos veces al día, vía oral, ya que podría evitar la progresión de la neuropatía (calidad de la evidencia baja; fuerza de la recomendación débil).