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1.
Eur J Neurol ; 31(9): e16335, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38965709

RESUMEN

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.


Asunto(s)
Electrodiagnóstico , Síndrome de Guillain-Barré , Conducción Nerviosa , Humanos , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/clasificación , Síndrome de Guillain-Barré/fisiopatología , Conducción Nerviosa/fisiología , Electrodiagnóstico/métodos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/clasificación , Esclerosis Amiotrófica Lateral/fisiopatología , Anciano , Estudios de Cohortes
2.
Pract Neurol ; 23(4): 343-345, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37391230

RESUMEN

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.


Asunto(s)
Eritromelalgia , Femenino , Humanos , Adulto , Eritromelalgia/inducido químicamente , Eritromelalgia/diagnóstico , Eritromelalgia/complicaciones , Ciclosporina/efectos adversos , Dolor
3.
J Peripher Nerv Syst ; 27(3): 197-205, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35700346

RESUMEN

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.


Asunto(s)
Síndrome de Guillain-Barré , Conducción Nerviosa , Síndrome de Guillain-Barré/diagnóstico , Humanos , Conducción Nerviosa/fisiología , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
4.
J Neurol Neurosurg Psychiatry ; 92(10): 1080-1088, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34103340

RESUMEN

OBJECTIVE: To compare the disease course in patients with mild Guillain-Barré syndrome (GBS) who were treated with intravenous immunoglobulin (IVIg) or supportive care only. METHODS: We selected patients from the prospective observational International GBS Outcome Study (IGOS) who were able to walk independently at study entry (mild GBS), treated with one IVIg course or supportive care. The primary endpoint was the GBS disability score four weeks after study entry, assessed by multivariable ordinal regression analysis. RESULTS: Of 188 eligible patients, 148 (79%) were treated with IVIg and 40 (21%) with supportive care. The IVIg group was more disabled at baseline. IVIg treatment was not associated with lower GBS disability scores at 4 weeks (adjusted OR (aOR) 1.62, 95% CI 0.63 to 4.13). Nearly all secondary endpoints showed no benefit from IVIg, although the time to regain full muscle strength was shorter (28 vs 56 days, p=0.03) and reported pain at 26 weeks was lower (n=26/121, 22% vs n=12/30, 40%, p=0.04) in the IVIg treated patients. In the subanalysis with persistent mild GBS in the first 2 weeks, the aOR for a lower GBS disability score at 4 weeks was 2.32 (95% CI 0.76 to 7.13). At 1 year, 40% of all patients had residual symptoms. CONCLUSION: In patients with mild GBS, one course of IVIg did not improve the overall disease course. The certainty of this conclusion is limited by confounding factors, selection bias and wide confidence limits. Residual symptoms were often present after one year, indicating the need for better treatments in mild GBS.


Asunto(s)
Síndrome de Guillain-Barré/tratamiento farmacológico , Inmunoglobulinas Intravenosas/uso terapéutico , Adulto , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento
5.
J Peripher Nerv Syst ; 26(4): 449-460, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34549484

RESUMEN

Half of the world's population is at risk of arthropod-borne virus (arbovirus) infections. Several arbovirus infections have been associated with Guillain-Barré syndrome (GBS). We investigated whether arboviruses are driving GBS beyond epidemic phases of transmission and studied the antibody response to glycolipids. The protocol of the International Guillain-Barré syndrome Outcome Study (IGOS), an observational prospective cohort study, was adapted to a case-control design. Serum samples were tested for a recent infection with Zika virus (ZIKV), dengue virus (DENV), chikungunya (CHIKV) virus, hepatitis E virus, Epstein-Barr virus (EBV), cytomegalovirus (CMV), Campylobacter jejuni, and Mycoplasma pneumoniae, and for antibodies to glycolipids. Forty-nine patients were included from Brazil (63%), Argentina (14%), and Malaysia (22%). Evidence of a recent infection was found in 27/49 (55%) patients: C jejuni (n = 15, 31%), M pneumoniae (n = 5, 10%), CHIKV (n = 2, 4%), EBV (n = 1, 2%), C jejuni and M pneumoniae (n = 2, 4%), CMV and DENV (n = 1, 2%), and C jejuni and DENV (n = 1, 2%). In 22 patients, 35 paired controls were collected. Odds ratio for recent infections did not significantly differ between cases and controls. No typical anti-ganglioside antibody binding was associated with recent arbovirus infection. We conclude that arbovirus infections occur in GBS patients outside of epidemic viral transmission, although not significantly more than in controls. Broad infection and anti-ganglioside antibody serology are important to establish the most likely pathogenic trigger in GBS patients. Larger studies are necessary to determine the association between arboviruses and GBS.


Asunto(s)
Arbovirus , Infecciones por Citomegalovirus , Infecciones por Virus de Epstein-Barr , Síndrome de Guillain-Barré , Infección por el Virus Zika , Virus Zika , Estudios de Casos y Controles , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/epidemiología , Infecciones por Virus de Epstein-Barr/complicaciones , Gangliósidos , Síndrome de Guillain-Barré/complicaciones , Síndrome de Guillain-Barré/epidemiología , Herpesvirus Humano 4 , Humanos , Estudios Prospectivos , Infección por el Virus Zika/complicaciones , Infección por el Virus Zika/epidemiología
6.
Vertex ; XXXII(154): 21-31, 2021 12.
Artículo en Español | MEDLINE | ID: mdl-35041730

RESUMEN

INTRODUCTION: Approximately 15% of all strokes occur in young patients, affecting them in the most productive years of their lives. Currently, there is limited information (particularly in Latin America) regarding the long-term psychosocial consequences of stroke in young patients. Therefore, the objective of our study was to analyze the functional impact of stroke in this group of patients, regarding both cognitive and psychosocial aspects. MATERIAL AND METHODS: A Beck Depression Inventory (BDI) was administered to outpatients with ischemic stroke between 16 and 55 years of age in two centers of Argentina. The following variables were compared in depressed and non-depressed individuals: NIHSS, modified Rankin Score, Mini-Mental State Examination, Barthel Index, as well as clinical-demographic variables. A BDI score greater than 10 was considered as marker of depression. RESULTS: Thirty-four patients with cerebral infarction were included, 67% (n = 23) were women, mean age: 45.53 ± 9.78 years (range: 21-59). Eleven patients (33%) had depression; 50% of the population was unable to continue with their previous job and 15% divorced or separated from their partner after the vascular event. The stroke recurrence rate was 0.03%. CONCLUSIONS: A high proportion of patients with depressive symptoms was observed. It should be noted that, in the majority, symptoms of depression had not been recognized and the patients were under-treated. Likewise, depression spread persistently after several years of the cerebrovascular event. Likewise, a significant proportion of patients were not able to re-insert themselves into their usual work activity. Moreover, stroke also had an important impact on their affective relationships. Treatment of depression after stroke should be particularly considered in these individuals due to their long-term survival, and should be offered to achieve the highest possible quality of recovery after stroke.


Asunto(s)
Accidente Cerebrovascular , Adulto , Argentina , Depresión/etiología , Femenino , Humanos , Pruebas de Estado Mental y Demencia , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Accidente Cerebrovascular/complicaciones , Sobrevivientes
7.
Brain ; 141(10): 2866-2877, 2018 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-30247567

RESUMEN

Guillain-Barré syndrome is a heterogeneous disorder regarding the clinical presentation, electrophysiological subtype and outcome. Previous single country reports indicate that Guillain-Barré syndrome may differ among regions, but no systematic comparative studies have been conducted. Comparative studies are required to identify factors determining disease susceptibility, variation and prognosis, and to improve diagnostic criteria. The International Guillain-Barré Syndrome Outcome Study is a prospective, observational cohort study including all patients within the diagnostic spectrum, aiming to describe the heterogeneity of Guillain-Barré syndrome worldwide. The current study was based on the first 1000 inclusions with a follow-up of at least 1 year and confirmed the variation in clinical presentation, course and outcome between patients. The full clinical spectrum of Guillain-Barré syndrome was observed in patients from all countries participating in the International Guillain-Barré Syndrome Outcome Study, but the frequency of variants differed between regions. We compared three regions based on geography, income and previous reports of Guillain-Barré syndrome subtypes: 'Europe/Americas', 'Asia' (without Bangladesh), and 'Bangladesh'. We excluded 75 (8%) patients because of alternative diagnoses, protocol violations, or missing data. The predominant clinical variant was sensorimotor in Europe/Americas (n = 387/562, 69%) and Asia (n = 27/63, 43%), and pure motor in Bangladesh (n = 74/107, 69%). Miller Fisher syndrome and Miller Fisher-Guillain-Barré overlap syndrome were more common in Asia (n = 14/63, 22%) than in the other two regions (Europe/Americas: n = 64/562, 11%; Bangladesh: n = 1/107, 1%) (P < 0.001). The predominant electrophysiological subtype was demyelinating in all regions (Europe/Americas: n = 312/573, 55%; Asia: n = 29/65, 45%; Bangladesh: n = 38/94, 40%). The axonal subtype occurred more often in Bangladesh (n = 34/94, 36%) than in Europe/Americas (n = 33/573, 6%) and other Asian countries (n = 4/65, 6%) (P < 0.001). In all regions, patients with the axonal subtype were younger, had fewer sensory deficits, and showed a trend towards poorer recovery compared to patients with the demyelinating subtype. The proportion of patients able to walk unaided after 1 year varied between Asia (n = 31/34, 91%), Europe/Americas (n = 334/404, 83%) and Bangladesh (n = 67/97, 69%) (P = 0.003). A similar variation was seen for mortality, being higher in Bangladesh (n = 19/114, 17%) than in Europe/Americas (n = 23/486, 5%) and Asia (n = 1/45, 2%) (P < 0.001). This study showed that factors related to geography have a major influence on clinical phenotype, disease severity, electrophysiological subtype, and outcome of Guillain-Barré syndrome.


Asunto(s)
Síndrome de Guillain-Barré/epidemiología , Síndrome de Guillain-Barré/fisiopatología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
8.
J Peripher Nerv Syst ; 23(1): 23-28, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29094786

RESUMEN

Intraneural perineurioma (IP) is an under-recognized hypertrophic peripheral nerve tumor. It affects young patients involving frequently the sciatic nerve and its branches and presents with a progressive, painless and predominantly motor deficit. Magnetic resonance neurography (MRN) is a useful tool to localize the lesion, evaluate its extension, and discriminate between different etiologies. We reviewed the clinical records of 11 patients with pathologically confirm IP. Eight patients were males with mean age 19 years. Initial complains were unilateral steppage (seven patients), bilateral steppage (one patient), unilateral gastrocnemius wasting (one patient), unilateral thigh atrophy (one patient), and unilateral hand weakness (one patient). Nine patients had mild painless sensory loss. Examinations revealed involvement of sciatic nerve extending into the peroneal nerve (eight patients), posterior tibial nerve (one patient), radial nerve (one patient), and femoral nerve (one patient). MRN revealed enlargement of the affected nerve isointense on T1-weighted, hyperintense on T2 fat-saturated images, and with avid enhancement on post-contrast imaging. In all patients, a nerve biopsy confirmed the diagnosis. MRN allows early and non-invasive identification of this tumor and is a key tool providing localization and differential diagnosis in patients with slowly progressive focal neuropathies.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Neoplasias de la Vaina del Nervio/diagnóstico por imagen , Neoplasias del Sistema Nervioso Periférico/diagnóstico por imagen , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto Joven
9.
Int J Neurosci ; 128(2): 140-145, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28889789

RESUMEN

BACKGROUND: Approximately 80% of patients suffering an acute ischemic stroke develop transient hypertension. The physiopathological mechanism remains unclear. Due to the lack of vascular risk factors, young adults could be a useful model for understanding blood pressure (BP) evolution in this setting. METHODS: Patients between 18 and 55 years old admitted with an acute ischemic stroke were included. BP was evaluated during the following 48 h. Hypertension was defined as: systolic blood pressure (SBP) ≥140 mmHg or diastolic blood pressure (DBP) ≥90 mmHg. Patients were divided into two groups: RF group included those who had a previous vascular risk factor and/or other medical condition known to affect the autonomic function; noRF group included patients without any of the previously stated conditions. RESULTS: Thirty-nine patients were included: mean age: 44.26 years old, 21 were males (53.8%). Mean SBP and DBP at admission were 139.77 ± 5.35 mmHg (range: 90-243) and 84.44 ± 3.02 mmHg (range: 60-128), respectively; 43.58% patients were hypertensive at admission. SBP decreased significantly during the first 48 h (p = 0.044) for the entire population. RF group has higher SBP (p = 0.009) and DBP (p = 0.011) at admission than the noRF group. CONCLUSION: Most patients were normotensive at admission and BP fell spontaneously despite BP at admission. Young patients without medical conditions that could alter the autonomic system function could be a useful model for understanding acute hypertension in ischemic stroke.


Asunto(s)
Presión Sanguínea/fisiología , Isquemia Encefálica/fisiopatología , Hipertensión/fisiopatología , Accidente Cerebrovascular/fisiopatología , Adolescente , Adulto , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos Teóricos , Factores de Riesgo , Adulto Joven
10.
J Stroke Cerebrovasc Dis ; 27(3): 575-582, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29132836

RESUMEN

BACKGROUND: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. METHODS: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females). RESULTS: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G. CONCLUSIONS: FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.


Asunto(s)
Hemorragia Cerebral/epidemiología , Enfermedad de Fabry/epidemiología , Ataque Isquémico Transitorio/epidemiología , Accidente Cerebrovascular/epidemiología , Adolescente , Adulto , Edad de Inicio , Argentina/epidemiología , Hemorragia Cerebral/diagnóstico , Análisis Mutacional de ADN , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Ataque Isquémico Transitorio/diagnóstico , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Prevalencia , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Factores de Tiempo , Adulto Joven , alfa-Galactosidasa/genética
11.
Medicina (B Aires) ; 78 Suppl 1: 1-23, 2018.
Artículo en Español | MEDLINE | ID: mdl-30179846

RESUMEN

Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Edad de Inicio , Argentina , Testimonio de Experto , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Humanos
12.
Int J Clin Pract ; 71(1)2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28097762

RESUMEN

BACKGROUND: The high variability in clinical manifestations of Fabry disease can lead to delays between symptom onset and correct diagnosis, and between correct diagnosis and initiation of enzyme replacement therapy. We investigated whether these delays have improved in recent years. METHODS: Data were analysed from the Fabry Outcome Survey (FOS; Shire; extracted August 2013) for "index patients", defined as the first patient diagnosed with Fabry disease from a family with several or no additional members registered in FOS. RESULTS: Periods analysed: 2001-2006 vs. 2007-2013, in patients overall and from Europe vs. the rest of the world (ROW). Overall, 598 patients were diagnosed within the study periods. Median age (95% CI) at symptom onset in 2001-2006 and 2007-2013 was 7.0 (5.0-11.0) and 9.0 (6.0-11.0) in children, and 21.0 (15.0-28.0) and 31.0 (26.0-35.0) in adults, respectively. Overall, the delay in diagnosis did not improve, despite showing a trend towards earlier diagnosis in adults (median 14.0 [95% CI 9.0-20.0] vs. 10.5 [8.0-13.0] years) and children (5.0 [1.0-9.0] vs. 4.0 [0.0-8.0] years). In contrast, the delay in treatment onset significantly decreased from 2001-2006 to 2007-2013 in children (4.3 [2.0-7.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (2.1 [1.3-3.2] vs. 0.9 [0.8-1.1] years; P<.001). Geographically, the delay in treatment onset significantly decreased in the ROW among children (5.3 [4.2-8.0] vs. 1.0 [0.8-1.4] year; P<.001) and adults (5.4 [4.8-6.0] vs. 1.1 [0.9-1.1] years; P<.001), but it did not change in Europe. CONCLUSION: We found that the delay in diagnosis has not improved substantially whereas the delay in treatment onset has improved in recent years.


Asunto(s)
Diagnóstico Tardío/tendencias , Terapia de Reemplazo Enzimático , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/tratamiento farmacológico , Tiempo de Tratamiento/tendencias , Adulto , Niño , Preescolar , Europa (Continente) , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Adulto Joven
13.
Epilepsy Behav ; 64(Pt A): 140-142, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27741463

RESUMEN

Status epilepticus (SE) is a severe neurological condition with significant morbidity and mortality. A reliable tool for prognosis is needed to take decision regarding treatment strategies. We compared 2 available prognostic scores of outcome: the Status Epilepticus Severity Score (STESS) and the Epidemiology-based Mortality score in SE (EMSE). We included 46 patients with SE evaluated out the last 5years in our hospital. We excluded patients with postanoxic encephalopathy or incomplete data. Among the 46 patients with SE, in-hospital mortality was 28%. The receiver operating characteristic (ROC) curve for predicting of death by STESS had an area under the curve (AUC) of 0.80 with cutoff point ≥4. The best EMSE variable combination to predict mortality was EMSE-AEL using an optimized cutoff point of 34 (age/etiology/loss of consciousness) with an area under the ROC of 0.79. The STESS and EMSE would be useful tools to predict in-hospital mortality in SE.


Asunto(s)
Mortalidad Hospitalaria , Índice de Severidad de la Enfermedad , Estado Epiléptico/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estado Epiléptico/mortalidad , Adulto Joven
14.
Medicina (B Aires) ; 75(5): 297-302, 2015.
Artículo en Español | MEDLINE | ID: mdl-26502464

RESUMEN

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren's syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.


Asunto(s)
Ataxia/diagnóstico , Ataxia/tratamiento farmacológico , Carcinoma de Células Escamosas/complicaciones , Neoplasias Pulmonares/complicaciones , Carcinoma Pulmonar de Células Pequeñas/complicaciones , Tiempo de Tratamiento , Adulto , Anciano , Anciano de 80 o más Años , Antiinflamatorios/uso terapéutico , Artritis Reumatoide/complicaciones , Ataxia/complicaciones , Resultado Fatal , Femenino , Ataxia de la Marcha/diagnóstico , Ataxia de la Marcha/tratamiento farmacológico , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Lupus Eritematoso Sistémico/complicaciones , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Parestesia/diagnóstico , Parestesia/tratamiento farmacológico , Estudios Retrospectivos , Síndrome de Sjögren/complicaciones
15.
Hum Mutat ; 35(7): 779-90, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24692096

RESUMEN

Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the TPM2 and TPM3 genes. Included are altogether 93 families: 53 with TPM2 mutations and 40 with TPM3 mutations. Thirty distinct pathogenic variants of TPM2 and 20 of TPM3 have been published or listed in the Leiden Open Variant Database (http://www.dmd.nl/). Most are heterozygous changes associated with autosomal-dominant disease. Patients with TPM2 mutations tended to present with milder symptoms than those with TPM3 mutations, DA being present only in the TPM2 group. Previous studies have shown that five of the mutations in TPM2 and one in TPM3 cause increased Ca(2+) sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with nonhypercontractile ones (2/22 and 1/22), whereas patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin-actin association or tropomyosin head-to-tail binding.


Asunto(s)
Estudios de Asociación Genética , Enfermedades Musculares/congénito , Enfermedades Musculares/genética , Mutación , Tropomiosina/genética , Actinas/metabolismo , Adolescente , Adulto , Secuencia de Aminoácidos , Niño , Preescolar , Bases de Datos Genéticas , Femenino , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Enfermedades Musculares/diagnóstico , Fenotipo , Fosforilación , Unión Proteica , Alineación de Secuencia , Tropomiosina/química , Tropomiosina/metabolismo , Adulto Joven
16.
Drug Des Devel Ther ; 18: 1083-1101, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38585254

RESUMEN

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.


Asunto(s)
Enfermedad de Fabry , Isoenzimas , Humanos , Enfermedad de Fabry/tratamiento farmacológico , Terapia de Reemplazo Enzimático/métodos , Calidad de Vida , Resultado del Tratamiento , alfa-Galactosidasa/uso terapéutico , Anticuerpos , Proteínas Recombinantes/uso terapéutico
17.
Medicina (B Aires) ; 84(3): 516-525, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38907966

RESUMEN

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.


Asunto(s)
Terapia de Reemplazo Enzimático , Enfermedad de Fabry , Hipertrofia Ventricular Izquierda , Isoenzimas , Proteínas Recombinantes , alfa-Galactosidasa , Humanos , Enfermedad de Fabry/tratamiento farmacológico , Enfermedad de Fabry/complicaciones , Masculino , Femenino , Estudios Retrospectivos , alfa-Galactosidasa/uso terapéutico , Hipertrofia Ventricular Izquierda/tratamiento farmacológico , Hipertrofia Ventricular Izquierda/etiología , Hipertrofia Ventricular Izquierda/diagnóstico por imagen , Adulto , Terapia de Reemplazo Enzimático/métodos , Persona de Mediana Edad , Isoenzimas/uso terapéutico , Proteínas Recombinantes/uso terapéutico , Resultado del Tratamiento , Estudios de Seguimiento , Factores de Tiempo
18.
J R Coll Physicians Edinb ; 54(2): 144-148, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38634267

RESUMEN

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.


Asunto(s)
Enfermedades del Nervio Abducens , Fístula del Seno Cavernoso de la Carótida , Errores Diagnósticos , Humanos , Fístula del Seno Cavernoso de la Carótida/diagnóstico , Femenino , Anciano de 80 o más Años , Enfermedades del Nervio Abducens/etiología , Enfermedades del Nervio Abducens/diagnóstico
19.
Medicina (B Aires) ; 84(1): 11-18, 2024.
Artículo en Español | MEDLINE | ID: mdl-38271928

RESUMEN

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.


Asunto(s)
Ataque Isquémico Transitorio , Accidente Cerebrovascular , Humanos , Masculino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Femenino , Estudios Retrospectivos , Pronóstico , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Infarto Cerebral/epidemiología , Infarto Cerebral/etiología , Recurrencia , Factores de Riesgo
20.
N Engl J Med ; 373(4): 393, 2015 07 23.
Artículo en Inglés | MEDLINE | ID: mdl-26200990
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