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1.
Neurology ; 103(1): e209501, 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38870452

RESUMO

BACKGROUND AND OBJECTIVES: Generalized convulsive seizures (GCSs) are the main risk factor of sudden unexpected death in epilepsy (SUDEP), which is likely due to peri-ictal cardiorespiratory dysfunction. The incidence of GCS-induced cardiac arrhythmias, their relationship to seizure severity markers, and their role in SUDEP physiopathology are unknown. The aim of this study was to analyze the incidence of seizure-induced cardiac arrhythmias, their association with electroclinical features and seizure severity biomarkers, as well as their specific occurrences in SUDEP cases. METHODS: This is an observational, prospective, multicenter study of patients with epilepsy aged 18 years and older with recorded GCS during inpatient video-EEG monitoring for epilepsy evaluation. Exclusion criteria were status epilepticus and an obscured video recording. We analyzed semiologic and cardiorespiratory features through video-EEG (VEEG), electrocardiogram, thoracoabdominal bands, and pulse oximetry. We investigated the presence of bradycardia, asystole, supraventricular tachyarrhythmias (SVTs), premature atrial beats, premature ventricular beats, nonsustained ventricular tachycardia (NSVT), atrial fibrillation (Afib), ventricular fibrillation (VF), atrioventricular block (AVB), exaggerated sinus arrhythmia (ESA), and exaggerated sinus arrhythmia with bradycardia (ESAWB). A board-certified cardiac electrophysiologist diagnosed and classified the arrhythmia types. Bradycardia, asystole, SVT, NSVT, Afib, VF, AVB, and ESAWB were classified as arrhythmias of interest because these were of SUDEP pathophysiology value. The main outcome was the occurrence of seizure-induced arrhythmias of interest during inpatient VEEG monitoring. Moreover, yearly follow-up was conducted to identify SUDEP cases. Binary logistic generalized estimating equations were used to determine clinical-demographic and peri-ictal variables that were predictive of the presence of seizure-induced arrhythmias of interest. The z-score test for 2 population proportions was used to test whether the proportion of seizures and patients with postconvulsive ESAWB or bradycardia differed between SUDEP cases and survivors. RESULTS: This study includes data from 249 patients (mean age 37.2 ± 23.5 years, 55% female) who had 455 seizures. The most common arrhythmia was ESA, with an incidence of 137 of 382 seizures (35.9%) (106/224 patients [47.3%]). There were 50 of 352 seizure-induced arrhythmias of interest (14.2%) in 41 of 204 patients (20.1%). ESAWB was the commonest in 22 of 394 seizures (5.6%) (18/225 patients [8%]), followed by SVT in 18 of 397 seizures (4.5%) (17/228 patients [7.5%]). During follow-up (48.36 ± 31.34 months), 8 SUDEPs occurred. Seizure-induced bradycardia (3.8% vs 12.5%, z = -16.66, p < 0.01) and ESAWB (6.6% vs 25%; z = -3.03, p < 0.01) were over-represented in patients who later died of SUDEP. There was no association between arrhythmias of interest and seizure severity biomarkers (p > 0.05). DISCUSSION: Markers of seizure severity are not related to seizure-induced arrhythmias of interest, suggesting that other factors such as occult cardiac abnormalities may be relevant for their occurrence. Seizure-induced ESAWB and bradycardia were more frequent in SUDEP cases, although this observation was based on a very limited number of SUDEP patients. Further case-control studies are needed to evaluate the yield of arrhythmias of interest along with respiratory changes as potential SUDEP biomarkers.


Assuntos
Arritmias Cardíacas , Eletroencefalografia , Humanos , Feminino , Masculino , Adulto , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/fisiopatologia , Arritmias Cardíacas/diagnóstico , Incidência , Pessoa de Meia-Idade , Estudos Prospectivos , Morte Súbita Inesperada na Epilepsia/epidemiologia , Convulsões/epidemiologia , Convulsões/fisiopatologia , Epilepsia Generalizada/epidemiologia , Epilepsia Generalizada/fisiopatologia , Idoso , Adulto Jovem , Eletrocardiografia , Adolescente
2.
Epileptic Disord ; 25(2): 131-141, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37283354

RESUMO

OBJECTIVE: To describe blinking as the only manifestation of seizures from isolated focal and generalized cortical spikes and investigate the relationship between blinks and epileptic discharges. METHODS: We measured the latency from the onset of spikes to the onset of blinks in two patients using electroencephalogram (EEG) and an electrooculogram (EOG), and calculated the median latency in both cases. We analyzed the latency from spike onset to the onset of additional specific eye movements, seen only in the second case. To determine the frequency of spontaneous blinks (not triggered by spikes), we defined a "control point" at 45 s following a random spike for the first case. We tested for statistically significant associations between latencies of blinks (Case 1) as well as between latencies of blinks and specific eye movements (Case 2). RESULTS: A total of 174 generalized spike-waves followed by a blink were analyzed in the first patient. Approximately 61% of the blinks occurred within 150-450 ms after the onset of the spike. Median latency for blinks following a spike was 294 ms compared to 541 ms for control blinks (p = .02). For the second patient, a total of 160 eye movements following a right occipito-parietal spike were analyzed. The median spike-blink latency in the second case was 497 milliseconds. Median latencies of spike onset to contralateral oblique eye movements with blink and left lateral eye movements were 648 and 655 milliseconds, respectively. CONCLUSIONS: Our study shows that isolated cortical spikes can induce epileptic seizures consisting exclusively of blinks. These findings emphasize the importance of careful EEG and EOG analysis to determine blinking as the only ictal phenomenon. We additionally describe a new technique to prove the temporal relationship between cortical discharges and a specific movement when, in addition to the movements triggered by a spike, the same movement is also spontaneously performed by the patient (in this case, blinking).


Assuntos
Piscadela , Epilepsia , Humanos , Movimentos Sacádicos , Pálpebras , Movimentos Oculares , Convulsões
3.
Front Neurol ; 12: 643916, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33643216

RESUMO

Rationale: Seizure clusters may be related to Sudden Unexpected Death in Epilepsy (SUDEP). Two or more generalized convulsive seizures (GCS) were captured during video electroencephalography in 7/11 (64%) patients with monitored SUDEP in the MORTEMUS study. It follows that seizure clusters may be associated with epilepsy severity and possibly with SUDEP risk. We aimed to determine if electroclinical seizure features worsen from seizure to seizure within a cluster and possible associations between GCS clusters, markers of seizure severity, and SUDEP risk. Methods: Patients were consecutive, prospectively consented participants with drug-resistant epilepsy from a multi-center study. Seizure clusters were defined as two or more GCS in a 24-h period during the recording of prolonged video-electroencephalography in the Epilepsy monitoring unit (EMU). We measured heart rate variability (HRV), pulse oximetry, plethysmography, postictal generalized electroencephalographic suppression (PGES), and electroencephalography (EEG) recovery duration. A linear mixed effects model was used to study the difference between the first and subsequent seizures, with a level of significance set at p < 0.05. Results: We identified 112 GCS clusters in 105 patients with 285 seizures. GCS lasted on average 48.7 ± 19 s (mean 49, range 2-137). PGES emerged in 184 (64.6%) seizures and postconvulsive central apnea (PCCA) was present in 38 (13.3%) seizures. Changes in seizure features from seizure to seizure such as seizure and convulsive phase durations appeared random. In grouped analysis, some seizure features underwent significant deterioration, whereas others improved. Clonic phase and postconvulsive central apnea (PCCA) were significantly shorter in the fourth seizure compared to the first. By contrast, duration of decerebrate posturing and ictal central apnea were longer. Four SUDEP cases in the cluster cohort were reported on follow-up. Conclusion: Seizure clusters show variable changes from seizure to seizure. Although clusters may reflect epilepsy severity, they alone may be unrelated to SUDEP risk. We suggest a stochastic nature to SUDEP occurrence, where seizure clusters may be more likely to contribute to SUDEP if an underlying progressive tendency toward SUDEP has matured toward a critical SUDEP threshold.

4.
J Clin Neurophysiol ; 38(2): 92-100, 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33661785

RESUMO

SUMMARY: Around 50 years after the first EEG acquisition by Hans Berger, its use in ambulatory setting was demonstrated. Ever since, ambulatory EEG has been widely available and routinely used in the United States (and to a lesser extent in Europe) for diagnosis and management of patients with epilepsy. This technology alone cannot help with semiological characterization, and absence of video is one of its main drawbacks. Addition of video to ambulatory EEG potentially improves diagnostic yield and opens new aspects of utility for better characterization of patient's events, including differential diagnosis, classification, and quantification of seizure burden. Studies evaluating quality of ambulatory video EEG (aVEEG) suggest good quality recordings are feasible. In the utilization of aVEEG, to maximize yield, it is important to consider pretest probability. Having clear pretest questions and a strong index of suspicion for focal, generalized convulsive or non-epileptic seizures further increases the usefulness of aVEEG. In this article, which is part of the topical issue "Ambulatory EEG," the authors compare long-term home aVEEG to inpatient video EEG monitoring, discuss aVEEG's use in diagnosis and follow-up of patients, and present the authors' own experience of the utility of aVEEG in a teaching hospital setting.


Assuntos
Eletroencefalografia/tendências , Epilepsia/diagnóstico , Serviços de Assistência Domiciliar/tendências , Monitorização Ambulatorial/tendências , Gravação em Vídeo/tendências , Centros Médicos Acadêmicos/tendências , Diagnóstico Diferencial , Eletroencefalografia/métodos , Epilepsia/epidemiologia , Epilepsia/fisiopatologia , Humanos , Monitorização Ambulatorial/métodos , Gravação em Vídeo/métodos
5.
Neurology ; 96(3): e352-e365, 2021 01 19.
Artigo em Inglês | MEDLINE | ID: mdl-33268557

RESUMO

OBJECTIVE: To analyze the association between peri-ictal brainstem posturing semiologies with postictal generalized electroencephalographic suppression (PGES) and breathing dysfunction in generalized convulsive seizures (GCS). METHODS: In this prospective, multicenter analysis of GCS, ictal brainstem semiology was classified as (1) decerebration (bilateral symmetric tonic arm extension), (2) decortication (bilateral symmetric tonic arm flexion only), (3) hemi-decerebration (unilateral tonic arm extension with contralateral flexion) and (4) absence of ictal tonic phase. Postictal posturing was also assessed. Respiration was monitored with thoracoabdominal belts, video, and pulse oximetry. RESULTS: Two hundred ninety-five seizures (180 patients) were analyzed. Ictal decerebration was observed in 122 of 295 (41.4%), decortication in 47 of 295 (15.9%), and hemi-decerebration in 28 of 295 (9.5%) seizures. Tonic phase was absent in 98 of 295 (33.2%) seizures. Postictal posturing occurred in 18 of 295 (6.1%) seizures. PGES risk increased with ictal decerebration (odds ratio [OR] 14.79, 95% confidence interval [CI] 6.18-35.39, p < 0.001), decortication (OR 11.26, 95% CI 2.96-42.93, p < 0.001), or hemi-decerebration (OR 48.56, 95% CI 6.07-388.78, p < 0.001). Ictal decerebration was associated with longer PGES (p = 0.011). Postictal posturing was associated with postconvulsive central apnea (PCCA) (p = 0.004), longer hypoxemia (p < 0.001), and Spo2 recovery (p = 0.035). CONCLUSIONS: Ictal brainstem semiology is associated with increased PGES risk. Ictal decerebration is associated with longer PGES. Postictal posturing is associated with a 6-fold increased risk of PCCA, longer hypoxemia, and Spo2 recovery. Peri-ictal brainstem posturing may be a surrogate biomarker for GCS severity identifiable without in-hospital monitoring. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that peri-ictal brainstem posturing is associated with the GCS with more prolonged PGES and more severe breathing dysfunction.


Assuntos
Tronco Encefálico/fisiopatologia , Epilepsia Generalizada/fisiopatologia , Postura/fisiologia , Respiração , Convulsões/fisiopatologia , Adolescente , Adulto , Idoso , Eletroencefalografia , Epilepsia Generalizada/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões/diagnóstico , Índice de Gravidade de Doença , Adulto Jovem
6.
Seizure ; 78: 31-37, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32155575

RESUMO

Over the last few decades the ILAE classifications for seizures and epilepsies (ILAE-EC) have been updated repeatedly to reflect the substantial progress that has been made in diagnosis and understanding of the etiology of epilepsies and seizures and to correct some of the shortcomings of the terminology used by the original taxonomy from the 1980s. However, these proposals have not been universally accepted or used in routine clinical practice. During the same period, a separate classification known as the "Four-dimensional epilepsy classification" (4D-EC) was developed which includes a seizure classification based exclusively on ictal symptomatology, which has been tested and adapted over the years. The extensive arguments for and against these two classification systems made in the past have mainly focused on the shortcomings of each system, presuming that they are incompatible. As a further more detailed discussion of the differences seemed relatively unproductive, we here review and assess the concordance between these two approaches that has evolved over time, to consider whether a classification incorporating the best aspects of the two approaches is feasible. To facilitate further discussion in this direction we outline a concrete proposal showing how such a compromise could be accomplished, the "Integrated Epilepsy Classification". This consists of five categories derived to different degrees from both of the classification systems: 1) a "Headline" summarizing localization and etiology for the less specialized users, 2) "Seizure type(s)", 3) "Epilepsy type" (focal, generalized or unknown allowing to add the epilepsy syndrome if available), 4) "Etiology", and 5) "Comorbidities & patient preferences".


Assuntos
Epilepsia/classificação , Guias de Prática Clínica como Assunto , Sociedades Médicas , Humanos
7.
JMIR Med Inform ; 8(2): e17061, 2020 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-32130173

RESUMO

BACKGROUND: Sudden unexpected death in epilepsy (SUDEP) is second only to stroke in neurological events resulting in years of potential life lost. Postictal generalized electroencephalogram (EEG) suppression (PGES) is a period of suppressed brain activity often occurring after generalized tonic-clonic seizure, a most significant risk factor for SUDEP. Therefore, PGES has been considered as a potential biomarker for SUDEP risk. Automatic PGES detection tools can address the limitations of labor-intensive, and sometimes inconsistent, visual analysis. A successful approach to automatic PGES detection must overcome computational challenges involved in the detection of subtle amplitude changes in EEG recordings, which may contain physiological and acquisition artifacts. OBJECTIVE: This study aimed to present a random forest approach for automatic PGES detection using multichannel human EEG recordings acquired in epilepsy monitoring units. METHODS: We used a combination of temporal, frequency, wavelet, and interchannel correlation features derived from EEG signals to train a random forest classifier. We also constructed and applied confidence-based correction rules based on PGES state changes. Motivated by practical utility, we introduced a new, time distance-based evaluation method for assessing the performance of PGES detection algorithms. RESULTS: The time distance-based evaluation showed that our approach achieved a 5-second tolerance-based positive prediction rate of 0.95 for artifact-free signals. For signals with different artifact levels, our prediction rates varied from 0.68 to 0.81. CONCLUSIONS: We introduced a feature-based, random forest approach for automatic PGES detection using multichannel EEG recordings. Our approach achieved increasingly better time distance-based performance with reduced signal artifact levels. Further study is needed for PGES detection algorithms to perform well irrespective of the levels of signal artifacts.

9.
Epilepsia ; 60(6): 1032-1039, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30924146

RESUMO

This article critiques the International League Against Epilepsy (ILAE) 2015-2017 classifications of epilepsy, epileptic seizures, and status epilepticus. It points out the following shortcomings of the ILAE classifications: (1) they mix semiological terms with epileptogenic zone terminology; (2) simple and widely accepted terminology has been replaced by complex terminology containing less information; (3) seizure evolution cannot be described in any detail; (4) in the four-level epilepsy classification, level two (epilepsy category) overlaps almost 100% with diagnostic level one (seizure type); and (5) the design of different classifications with distinct frameworks for newborns, adults, and patients in status epilepticus is confusing. The authors stress the importance of validating the new ILAE classifications and feel that the decision of Epilepsia to accept only manuscripts that use the ILAE classifications is premature and regrettable.


Assuntos
Epilepsia/classificação , Convulsões/classificação , Humanos , Estado Epiléptico/classificação
10.
Epileptic Disord ; 21(1): 1-29, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30782582

RESUMO

This educational review describes the classification of paroxysmal events and a four-dimensional epilepsy classification system. Paroxysmal events are classified as epileptic and non-epileptic paroxysmal events. Non-epileptic events are, in turn, classified as psychogenic and organic paroxysmal events. The following four dimensions are used to classify epileptic paroxysmal events: ictal semiology, the epileptogenic zone, etiology, and comorbidities. Efforts are made to keep these four dimensions as independent as possible. The review also includes 12 educational vignettes and three more detailed case reports classified using the 2017 classification of the ILAE and the four-dimensional epilepsy classification. In addition, a case is described which is classified using the four-dimensional epilepsy classification with different degrees of precision by an emergency department physician, a neurologist, and an epileptologist. [Published with video sequences on www.epilepticdisorders.com].


Assuntos
Epilepsia/classificação , Epilepsia/etiologia , Epilepsia/fisiopatologia , Humanos
12.
J Clin Neurosci ; 58: 201-203, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30327227

RESUMO

Ictal gaze deviation and oculogyric crisis (OGC) can show identical clinical manifestations. We report a case of repeated drug induced OGCs in a 38 year old patient with secondary progressive multiple sclerosis. He was referred to our center for treatment of "intractable" epilepsy manifesting as episodic eye and head deviations with apparent unresponsiveness. In the epilepsy monitoring unit, ten typical spells were captured without epileptiform electroencephalographic correlates, but we discovered chronic exposure to metoclopramide. A diagnosis of OGC was suspected and Metoclopramide was stopped. This robustly improved the frequency of his spells. In a setting of usage of antidopaminergic medications and/or pontomesencephalic lesions, a low threshold should be kept for the diagnosis of oculogyric crisis, thus avoiding seizure diagnoses and inappropriate treatment of the phenomenon. Video-EEG monitoring is essential for teasing apart epilepsy and OGC.


Assuntos
Antieméticos/efeitos adversos , Epilepsia Resistente a Medicamentos/diagnóstico , Metoclopramida/efeitos adversos , Esclerose Múltipla Crônica Progressiva/complicações , Transtornos da Motilidade Ocular/induzido quimicamente , Adulto , Diagnóstico Diferencial , Distonia/induzido quimicamente , Eletroencefalografia , Humanos , Masculino
13.
Skelet Muscle ; 8(1): 23, 2018 07 30.
Artigo em Inglês | MEDLINE | ID: mdl-30060766

RESUMO

BACKGROUND: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. METHODS: Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. RESULTS: Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. CONCLUSIONS: Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases.


Assuntos
Variação Genética , Distrofia Muscular do Cíngulo dos Membros/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Distroglicanas/metabolismo , Feminino , Predisposição Genética para Doença , Glicosilação , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/genética , Distrofia Muscular do Cíngulo dos Membros/metabolismo , Mutação , Fenótipo , Sequenciamento do Exoma/métodos , Adulto Jovem
14.
Epilepsy Behav ; 85: 52-57, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29908384

RESUMO

RATIONALE: Up to 30-50% of individuals with epilepsy have depressive symptoms, which often complicate seizure management and reduce overall quality of life. To identify and manage depressive symptoms appropriately, clinicians need standardized instruments that can accurately identify and monitor those with clinically significant depression. The self-reported 9-item Patient Health Questionnaire (PHQ-9) has been used relatively widely to screen and monitor depression in epilepsy. The rater-administered Montgomery-Asberg Depression Rating Scale (MADRS) is a rater-administered instrument widely used in depression treatment trials but less widely applied in epilepsy. This secondary analysis from 2 epilepsy self-management clinical trials compared depression severity ratings using the PHQ-9 and the MADRS instruments. METHODS: Data for this analysis were derived from pooled baseline and longitudinal data from 2 prospective epilepsy self-management randomized controlled trials (RCTs). Both RCTs assessed depression with the PHQ-9 and the MADRS. For this analysis, total depression severity scores and case classification of individuals with no/minimal, mild, moderate/moderately severe, and severe depression were assessed using both PHQ-9 and MADRS. RESULTS: The sample contained 164 individuals with epilepsy. Demographic and clinical variables between the 2 studies were generally similar. There were 107 women (64.8%), 106 African-Americans (64.2%), and 51 Whites (30.9%). Individuals had epilepsy for an average of 22.1 (SD: 15.5). Mean past 30-day seizure frequency at baseline was 3.1 (SD: 11.6). Baseline mean PHQ-9 was 10.7 (SD: 6.80) with depression severity of 32 (19.6%) not or minimally depressed, 47 (28.8%) mildly depressed, 37 (22.7%) moderately depressed, 27 (16.6%) moderately severely depressed, and 20 (12.3%) severely depressed. Baseline mean MADRS severity was 18.5 (SD: 11.3) with 30 (18.8%) not or minimally depressed, 27 (16.9%) mildly depressed, 92 (56.1%) moderately depressed, and 11 (6.9%) severely depressed. The correlation between total PHQ-9 and total MADRS was 0.843 (p < .01) although case classification by depression severity varied somewhat between the two instruments. CONCLUSIONS: Standardized measures to evaluate depression severity in people with epilepsy can help identify cases and monitor treatment. The PHQ-9 and MADRS both perform well in assessing depression in people with epilepsy although administration burden is less with PHQ-9 thus making it likely preferable for settings where time and epilepsy specialty resources are limited.


Assuntos
Depressão/diagnóstico , Transtorno Depressivo/diagnóstico , Epilepsia/complicações , Qualidade de Vida , Adulto , Depressão/complicações , Depressão/psicologia , Transtorno Depressivo/complicações , Transtorno Depressivo/psicologia , Epilepsia/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença
15.
J Neurol Neurosurg Psychiatry ; 89(5): 506-512, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29175898

RESUMO

BACKGROUND: Mutations in the gene coding for protein O-mannosyl-transferase 2 (POMT2) are known to cause severe congenital muscular dystrophy, and recently, mutations in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N). Only four cases have been reported so far.ClinicalTrials.gov ID: NCT02759302 METHODS: We report 12 new cases of LGMD2N, aged 18-63 years. Muscle involvement was assessed by MRI, muscle strength testing and muscle biopsy analysis. Other clinical features were also recorded. RESULTS: Presenting symptoms were difficulties in walking, pain during exercise, delayed motor milestones and learning disabilities at school. All had some degree of cognitive impairment. Brain MRIs were abnormal in 3 of 10 patients, showing ventricular enlargement in one, periventricular hyperintensities in another and frontal atrophy of the left hemisphere in a third patient. Most affected muscle groups were hip and knee flexors and extensors on strength testing. On MRI, most affected muscles were hamstrings followed by paraspinal and gluteal muscles. The 12 patients in our cohort carried 11 alleles with known mutations, whereas 11 novel mutations accounted for the remaining 13 alleles. CONCLUSION: We describe the first cohort of patients with LGMD2N and show that unlike other LGMD types, all patients had cognitive impairment. Primary muscle involvement was found in hamstring, paraspinal and gluteal muscles on MRI, which correlated well with reduced muscle strength in hip and knee flexors and extensors. The study expands the mutational spectrum for LGMD2N, with the description of 11 novel POMT2 mutations in the association with LGMD2N. CLINICAL TRIAL REGISTRATION: NCT02759302.


Assuntos
Predisposição Genética para Doença/genética , Manosiltransferases/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Adolescente , Adulto , Alelos , Disfunção Cognitiva/complicações , Disfunção Cognitiva/genética , Disfunção Cognitiva/patologia , Disfunção Cognitiva/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/complicações , Debilidade Muscular/fisiopatologia , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/patologia , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Mutação , Neuroimagem , Adulto Jovem
16.
J Clin Neurophysiol ; 31(6): 547-51, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25462141

RESUMO

PURPOSE: Human T-lymphotropic virus type 1 has been implicated in human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Regarding its endemicity in Iran and the role of repetitive transcranial magnetic stimulation in reducing spasticity, we decided to evaluate the efficacy of repetitive transcranial magnetic stimulation in reducing spasticity (as primary outcome) and pain, muscle power, and quality of life (as secondary outcomes) in patients suffering from HAM/TSP. METHODS: In this pretest-posttest study, nine definite patients with HAM/TSP (according to WHO guidelines) were recruited. All patients underwent five consecutive daily sessions of active repetitive transcranial magnetic stimulation (each session consisting of 20 trains of 10 pulses at 5 Hz and an intensity of 90% of resting motor threshold for the biceps brachii muscle). Main outcome measures including spasticity (by modified Ashworth scale), pain (by visual analog scale), muscle power, and quality of life (by SF 36) were measured before the study and days 5, 7, 30 after the termination of the sessions. RESULTS: Seven (77.8%) females and 2 (22.2%) males were recruited with the mean age of 52 ± 12.67 years, and the mean duration of the disease was 5 ± 3.94. Comparison of the repeated measures showed a statistically significant decrease in pain and spasticity in lower limbs. The decrement in spasticity was persistent even 30 days after the intervention; however, the pain reduction was seen only 5 days after the procedure. No change in quality of life, and muscle power was detected. CONCLUSIONS: It seems that repetitive transcranial magnetic stimulation could decrease spasticity and pain in patients with HAM/TSP, and this effect could persistently continue by 1 month, but it did not influence patients' muscle power and quality of life, and it could be used as an adjuvant therapy in patients suffering from human T-lymphotropic virus type 1-associated HAM/TSP.


Assuntos
Vírus Linfotrópico T Tipo 1 Humano/patogenicidade , Músculo Esquelético/inervação , Paraparesia Espástica Tropical/terapia , Estimulação Magnética Transcraniana/métodos , Adulto , Feminino , Humanos , Irã (Geográfico) , Extremidade Inferior , Masculino , Pessoa de Meia-Idade , Atividade Motora , Força Muscular , Dor/fisiopatologia , Dor/virologia , Medição da Dor , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/fisiopatologia , Paraparesia Espástica Tropical/psicologia , Paraparesia Espástica Tropical/virologia , Qualidade de Vida , Fatores de Tempo , Estimulação Magnética Transcraniana/efeitos adversos , Resultado do Tratamento
17.
Arch Iran Med ; 17(8): 587-8, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25065284

RESUMO

Virchow-Robin spaces are perivascular spaces that surround small arteries and arterioles as they enter the brain parenchyma. They are usually normal findings on MRI of healthy people. Rarely, Virchow-Robin spaces look strikingly enlarged, causing mass effect and unusual cystic conformations that may be misinterpreted as other pathologic processes, such as a cystic neoplasm. Here, we describe a 52-year-old woman in whom brain magnetic resonance imaging (MRI), performed to evaluate Parkinsonism, incidentally found giant Virchow-Robins space or Swiss cheese brain syndrome. In our patient, it seems that the giant Virchow-Robin spaces have been found incidentally and are not associated with the patient's Parkinsonism symptoms.


Assuntos
Encéfalo/patologia , Achados Incidentais , Transtornos Parkinsonianos/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Espaço Subaracnóideo/patologia
18.
Epilepsy Behav Case Rep ; 2: 145-51, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25667894

RESUMO

Ictal asystole is a rare, probably underestimated manifestation of epileptic seizures whose pathophysiology is still debated. This report describes two patients who had cardiac asystole at the end of their seizure. The first patient was a 13-year-old boy with complex partial seizures.. His MRI showed symmetrical signal abnormality in the bilateral parietooccipital lobe accompanied by mild gliosis and volume loss. During a 3-day long-term video-EEG monitoring, he had cardiac arrest at the end of one of his seizures that was secondarily generalized. The second one was a 42-year-old veteran with penetrating head trauma in the left frontal lobe due to shell injury. During long-term video-EEG monitoring, he had one generalized tonic-clonic seizure accompanied by bradycardia and cardiac asystole. Asystoles could have a role in the incidence of sudden unexpected death in epilepsy (SUDEP), meaning that the presence of ictal bradycardia is a risk factor for SUDEP. In cases of epileptic cardiac dysrhythmia, prolonged simultaneous EEG/ECG monitoring may be required. Cardiological investigation should be included in epilepsy management.

20.
Trop Doct ; 40(2): 89-91, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20305102

RESUMO

This study was undertaken in order to compare the frequency of bacterial agents of community-acquired pneumonia (CAP) and their antimicrobial resistance in the elderly and younger adults admitted to a teaching hospital in Hamedan, Iran. A total of 150 cases of CAP, including 81 elderly and 69 younger adults, were evaluated. The most frequently identified pathogens in younger adults were Moraxella catarralis (11.5%), Streptococcus pneumonia (10.1%) and Staphylococcus aureus (10.1%); while in the elderly the most frequent were S. pneumonia (12.3%), S. aureus (6.1%) and Pseudomonas aeruginosa (6.1%). No significant differences were observed between the frequency and antimicrobial resistance pattern of isolated pathogens in either age group. We concluded that the cause of CAP in the elderly follows the general trend of infection in the younger population. Increased resistance of isolated bacteria to the current antibiotics highlights the need for further investigation of newer antibiotics for the treatment of CAP.


Assuntos
Antibacterianos/farmacologia , Farmacorresistência Bacteriana , Pneumonia Bacteriana/microbiologia , Adulto , Distribuição por Idade , Idoso , Antibacterianos/uso terapêutico , Infecções Comunitárias Adquiridas/diagnóstico , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/terapia , Feminino , Hospitais de Ensino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Pneumonia Bacteriana/diagnóstico , Pneumonia Bacteriana/tratamento farmacológico , Pneumonia Bacteriana/epidemiologia , Prevalência , Estudos Prospectivos
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