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2.
Sleep Sci ; 17(1): e37-e44, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38545241

RESUMO

Objective Sleep restfulness is closely associated with mortality. Thus, it is an important sleep-related symptom in the general population. However, it is rarely evaluated in patients with obstructive sleep apnea (OSA) syndrome. The present study examined the importance of sleep restfulness in patients with OSA receiving continuous positive airway pressure (CPAP) therapy. Materials and Methods We administered sleep-related questionnaires, which included items such as subjective sleep duration and sleep restfulness, to 775 patients with OSA receiving CPAP therapy. Sleep restfulness was rated using a 5-point Likert-type scale, with the score of 5 indicating restfulness. Good adherence to CPAP therapy was defined as the use of CPAP therapy for at least 4 h per night in 70% of nights. Results We excluded 105 patients with lacking data. Thus, 670 patients were finally examined. In total, 29 (4.3%), 124 (18.5%), 139 (20.8%), 235 (35.1%), and 143 (14.3%) patients answered restless (1), somewhat restless (2), neither (3), somewhat restful (4), and restful (5) respectively. A total of 467 (69.7%) patients had good adherence to CPAP therapy. Multivariate logistic regression analysis showed that sleep restfulness was independently and positively associated with subjective sleep duration (≥ 7 hours) and good adherence to CPAP therapy. Conclusion Sleep restfulness was associated with subjective sleep duration and good adherence to CPAP therapy in patients with OSA. Favorable outcomes are significantly correlated with good adherence to CPAP therapy. Thus, sleep restfulness can be an indicator of a subtype that has favorable outcomes in patients after CPAP therapy.

3.
Ann Am Thorac Soc ; 21(4): 644-650, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38241090

RESUMO

Rationale: There have been meta-analyses that showed reduced retinal nerve fiber layer (RNFL) thickness, which is a surrogate marker of glaucoma, in patients with obstructive sleep apnea (OSA). However, the sample sizes in these reports were small (<300), and the mechanism of RNFL thinning in patients with OSA was not revealed.Objectives: To investigate the relationship of RNFL thickness with nocturnal hypoxemia or hypoxemic burden in a large-scale study.Methods: In this epidemiological study, 8,309 community residents were enrolled. The actigraphy-modified 3% oxygen desaturation index (acti-ODI3%) and cumulative percentage of sleep time with oxygen saturation <90% (acti-CT90) modified by objective sleep duration using actigraphy were measured. The hypoxemic burden is shown as acti-CT90. Circumpapillary RNFL thickness was determined using optical coherence tomography.Results: Multivariable logistic analysis models revealed that an increase in acti-CT90 was significantly associated with mean RNFL thinning after adjusting for several factors in participants without glaucoma diagnosed or treated previously (ß = -0.037; P = 0.009). There were significant differences in mean RNFL thickness among participants stratified according to acti-CT90 (>1.5 vs. ⩽1.5; P = 0.04). Although acti-ODI3% was significantly associated with acti-CT90 (ß = 0.72; P < 0.0001), acti-ODI3% was not significantly associated with mean RNFL thickness in the multivariable logistic analysis (ß = -0.011; P = 0.48). In addition, acti-CT90 was significantly associated with mean RNFL thickness both in the elderly (⩾60 yr; ß = -0.058; P = 0.002) and nonelderly (<60 yr; ß = -0.054; P = 0.007).Conclusions: Acti-CT90, but not acti-ODI3%, was associated with mean RNFL thinning in participants irrespective of age in the elderly or nonelderly. Further prospective studies are required to investigate whether the prevention of hypoxic burden, which was shown as acti-CT90 in this study, is favorable for RNFL thinning.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Disco Óptico , Humanos , Idoso , Glaucoma de Ângulo Aberto/diagnóstico , Pressão Intraocular , Campos Visuais , Glaucoma/epidemiologia , Glaucoma/diagnóstico , Tomografia de Coerência Óptica/métodos , Fibras Nervosas , Hipóxia/epidemiologia
4.
Nutrients ; 15(19)2023 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-37836522

RESUMO

Sleep-disordered breathing (SDB) is often accompanied by noncommunicable diseases (NCDs), including gout. However, the association between serum uric acid (sUA) levels and NCDs is complicated in patients with SDB. We aimed to clarify this issue utilizing large-scale epidemiological data. This community-based study included 9850 inhabitants. SDB and its severity were assessed by a 3% oxygen desaturation index (3% ODI) corrected for sleep duration using wrist actigraphy. The associations between sUA and moderate to severe SDB (MS-SDB) and sUA and NCDs in patients with MS-SDB were analyzed. A total of 7895 subjects were eligible. In females, the prevalence of MS-SDB increased according to an elevation in sUA levels even after adjusting for confounders, and sUA ≥ 5 mg/dL was the threshold. These were not found in males. There was a positive interaction between sUA ≥ 5 mg/dL and female sex for MS-SDB. In females with MS-SDB, the prevalence of diabetes mellitus (DM) increased according to an elevation in sUA levels, and those with sUA ≥ 5 mg/dL showed a higher prevalence of DM than their counterparts. There is a clear correlation between sUA levels and the severity of SDB, and elevated sUA poses a risk for DM in females with MS-SDB.


Assuntos
Diabetes Mellitus , Síndromes da Apneia do Sono , Humanos , Masculino , Feminino , Ácido Úrico , Caracteres Sexuais , Síndromes da Apneia do Sono/epidemiologia , Oxigênio
5.
Respir Investig ; 61(5): 541-547, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37331123

RESUMO

Excessive daytime sleepiness (EDS) is a symptom of sleep apnea syndrome (SAS). In some patients with SAS who undergo continuous positive airway pressure (CPAP) therapy, EDS persists (residual EDS). However, knowledge of residual EDS in Japan is limited. Therefore, we examined EDS as defined by the Japanese version of the Epworth Sleepiness Scale (a score of ≥11) before and after long-term (≥1 year) CPAP therapy in 490 patients with SAS. Good adherence to CPAP therapy was defined as its use for at least 4 h during 70% of the nights. The prevalence of residual EDS was 9.4%. Residual EDS was negatively associated with good adherence to CPAP therapy. Furthermore, the longer the CPAP therapy duration after initiation, the lower the prevalence of residual EDS. Therefore, the findings on the prevalence of residual EDS and its association with CPAP therapy in Japan are probably similar to those of other countries.


Assuntos
Distúrbios do Sono por Sonolência Excessiva , Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Humanos , Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/terapia , Japão/epidemiologia , Síndromes da Apneia do Sono/epidemiologia , Síndromes da Apneia do Sono/terapia , Distúrbios do Sono por Sonolência Excessiva/etiologia , Distúrbios do Sono por Sonolência Excessiva/complicações
6.
J Clin Sleep Med ; 19(8): 1557-1561, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37082814

RESUMO

Servo-ventilation (SV) was developed for treating central sleep apnea. To date, primarily SV devices manufactured by Philips Respironics and ResMed are used. However, the difference in reaction to sleep-disordered breathing events between bilevel positive airway pressure AutoSV devices from Philips and adaptive SV devices from ResMed in clinical settings is unknown. Herein, we describe a case of central sleep apnea in which sleep-disordered breathing events were successfully controlled and sleepiness, sleep quality, and tolerance of the device were improved by changing from the bilevel positive airway pressure AutoSV device from Philips to the adaptive SV device from ResMed. Changing the SV devices can be a clinical option to appropriately control sleep-disordered breathing events in patients receiving SV therapy who present with persistent sleep-disordered breathing. CITATION: Hamada S, Togawa J, Sunadome H, Nagasaki T, Hirai T, Sato S. Good clinical response achieved by changing servo-ventilation devices in a patient with central sleep apnea: a case report. J Clin Sleep Med. 2023;19(8):1557-1561.


Assuntos
Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Humanos , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/terapia , Respiração , Síndromes da Apneia do Sono/complicações , Síndromes da Apneia do Sono/terapia , Pressão Positiva Contínua nas Vias Aéreas
7.
Respir Investig ; 61(1): 116-120, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36744739

RESUMO

In June 2021, Philips Respironics first advised the use of in-line bacterial filters in response to a recall of continuous positive airway pressure (CPAP) devices. However, the effects of using in-line filters with CPAP devices have not yet been examined in a clinical setting. Here, we retrospectively evaluated 160 patients with sleep-disordered breathing (SDB) who voluntarily used in-line bacterial filters. Patients' perceptions of CPAP pressure after using in-line filters were investigated via a verbal interview. Patients described CPAP pressure as very weak (13, 8.1%), somewhat weak (42, 26.2%), unchanged (103, 64.4%), or somewhat strong (2, 1.3%). Five of the thirteen patients (38.5%) who described CPAP pressure as very weak discontinued the use of in-line filters. The apnea-hypopnea index obtained from the CPAP devices did not change after using in-line filters (n = 129, p = 0.85). Hence, although in-line bacterial filters could change patients' perceptions of CPAP pressure, they did not influence SDB control.


Assuntos
Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Humanos , Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono/terapia , Estudos Retrospectivos , Síndromes da Apneia do Sono/terapia
8.
Intern Med ; 62(14): 2037-2041, 2023 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-36476544

RESUMO

Objective The effects of continuous positive airway pressure (CPAP) devices on obstructive sleep apnea (OSA) in Japanese patients have not been reported. We assessed the effects of changing CPAP devices (from the Philips Respironics device to the ResMed device) on the control of OSA. Methods We retrospectively examined 13 patients with OSA who voluntarily changed from the Philips Respironics device to the ResMed device due to a Philips Respironics CPAP device recall. Data on the apnea-hypopnea index (AHI) were obtained from the CPAP devices for three months before and after changing the devices. Results The AHI obtained from the CPAP devices significantly decreased from 4.4 (3.1-10.7) events/h to 2.0 (0.8-3.6) events/h when patients changed devices (p=0.022). The AHI decreased to <5 events/h after changing devices in 4 patients, whereas it had been ≥5 events/h before changing devices in 6 patients. Conclusion Changing CPAP devices can decrease the AHI.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono , Humanos , Pressão Positiva Contínua nas Vias Aéreas/métodos , Estudos Retrospectivos , População do Leste Asiático , Polissonografia/métodos , Apneia Obstrutiva do Sono/terapia
9.
Brain Commun ; 4(5): fcac222, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36381989

RESUMO

Identifying the minimal and optimal epileptogenic area to resect and cure is the goal of epilepsy surgery. To achieve this, EEG analysis is recognized as the most direct way to detect epileptogenic lesions from spatiotemporal perspectives. Although ictal direct-current shifts (below 1 Hz) and ictal high-frequency oscillations (above 80 Hz) have received increasing attention as good indicators that can add more specific information to the conventionally defined seizure-onset zone, large cohort studies on postoperative outcomes are still lacking. This work aimed to clarify whether this additional information, particularly ictal direct-current shifts which is assumed to reflect extracellular potassium concentration, really improve postoperative outcomes. To assess the usefulness in epilepsy surgery, we collected unique EEG data sets recorded with a longer time constant of 10 s using an alternate current amplifier. Sixty-one patients (15 with mesial temporal lobe epilepsy and 46 with neocortical epilepsy) who had undergone invasive presurgical evaluation for medically refractory seizures at five institutes in Japan were retrospectively enrolled in this study. Among intracranially implanted electrodes, the two core electrodes of both ictal direct-current shifts and ictal high-frequency oscillations were independently identified by board-certified clinicians based on unified methods. The occurrence patterns, such as their onset time, duration, and amplitude (power) were evaluated to extract the features of both ictal direct-current shifts and ictal high-frequency oscillations. Additionally, we examined whether the resection ratio of the core electrodes of ictal direct-current shifts and ictal high-frequency oscillations independently correlated with favourable outcomes. A total of 53 patients with 327 seizures were analyzed for wide-band EEG analysis, and 49 patients were analyzed for outcome analysis. Ictal direct-current shifts were detected in the seizure-onset zone more frequently than ictal high-frequency oscillations among both patients (92% versus 71%) and seizures (86% versus 62%). Additionally, ictal direct-current shifts significantly preceded ictal high-frequency oscillations in patients exhibiting both biomarkers, and ictal direct-current shifts occurred more frequently in neocortical epilepsy patients than in mesial temporal lobe epilepsy patients. Finally, although a low corresponding rate was observed for ictal direct-current shifts and ictal high-frequency oscillations (39%) at the electrode level, complete resection of the core area of ictal direct-current shifts significantly correlated with favourable outcomes, similar to ictal high-frequency oscillation outcomes. Our results provide a proof of concept that the independent significance of ictal direct-current shifts from ictal high-frequency oscillations should be considered as reliable biomarkers to achieve favourable outcomes in epilepsy surgery. Moreover, the different distribution of the core areas of ictal direct-current shifts and ictal high-frequency oscillations may provide new insights into the underlying mechanisms of epilepsy, in which not only neurons but also glial cells may be actively involved via extracellular potassium levels.

10.
Front Neurol ; 13: 902157, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36188368

RESUMO

Purpose: This study aims to propose a diagnostic algorithm for autoimmune epilepsy in a retrospective cohort and investigate its clinical utility. Methods: We reviewed 60 patients with focal epilepsy with a suspected autoimmune etiology according to board-certified neurologists and epileptologists. To assess the involvement of the autoimmune etiology, we used the patients' sera or cerebrospinal fluid (CSF) samples to screen for antineuronal antibodies using rat brain immunohistochemistry. Positive samples were analyzed for known antineuronal antibodies. The algorithm applied to assess the data of all patients consisted of two steps: evaluation of clinical features suggesting autoimmune epilepsy and evaluation using laboratory and imaging findings (abnormal CSF findings, hypermetabolism on fluorodeoxyglucose-positron emission tomography, magnetic resonance imaging abnormalities, and bilateral epileptiform discharges on electroencephalography). Patients were screened during the first step and classified into five groups according to the number of abnormal laboratory findings. The significant cutoff point of the algorithm was assessed using a receiver-operating characteristic curve analysis. Results: Fourteen of the 60 patients (23.3%) were seropositive for antineuronal antibodies using rat brain immunohistochemistry. Ten patients had antibodies related to autoimmune epilepsy/encephalitis. The cutoff analysis of the number of abnormal laboratory and imaging findings showed that the best cutoff point was two abnormal findings, which yielded a sensitivity of 78.6%, a specificity of 76.1%, and an area under the curve of 0.81. Conclusion: The proposed algorithm could help predict the underlying autoimmune etiology of epilepsy before antineuronal antibody test results are available.

11.
Respir Investig ; 60(5): 729-733, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35840517

RESUMO

Continuous positive airway pressure (CPAP) therapy can be beneficial in patients with obstructive sleep apnea (OSA) and cardiovascular diseases, reducing arrhythmia frequency and improving cardiac function. We describe a case of moderate OSA with idiopathic dilated cardiomyopathy, in which the frequency of premature ventricular contraction (PVC) and non-sustained ventricular tachycardia (NSVT) increased immediately after initiating CPAP therapy. Although PVC and NSVT are benign cardiac arrhythmias, they are associated with an increased risk of sustained lethal ventricular tachyarrhythmias. Therefore, when initiating CPAP therapy, the possibility of increased arrhythmia should be considered.


Assuntos
Cardiomiopatia Dilatada , Apneia Obstrutiva do Sono , Taquicardia Ventricular , Humanos , Arritmias Cardíacas/complicações , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/terapia , Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/terapia , Taquicardia Ventricular/complicações , Taquicardia Ventricular/terapia
12.
Rinsho Shinkeigaku ; 62(5): 357-362, 2022 May 31.
Artigo em Japonês | MEDLINE | ID: mdl-35474283

RESUMO

A 64-year-old Japanese woman presented with 1 week of recurrent convulsive seizures. At the time of admission, she was in a coma and did not present with convulsions. Intravenous diazepam administration improved her consciousness, although severe psychomotor excitement developed. Brain MRI demonstrated diffusion restriction in the cerebral cortex of the right hemisphere. Electroencephalography (EEG) showed periodic discharges centered around the parietal regions with right-sided dominance. Nonconvulsive status epilepticus (NCSE) was suspected, and the patient was actively treated with anti-epileptic drugs. She developed akinetic mutism and generalized myoclonus 1 month after admission. Follow-up EEG studies disclosed periodic synchronous discharges. Abnormal prion protein in the cerebral fluid was detected using a real-time quaking-induced conversion assay. The clinical diagnosis in the present case was sporadic Creutzfeldt-Jakob disease (CJD). Seizures as an initial symptom in patients with CJD are relatively rare. Our case suggests that CJD should be considered as a differential diagnosis when a patient presents with refractory NCSE.


Assuntos
Síndrome de Creutzfeldt-Jakob , Estado Epiléptico , Córtex Cerebral , Síndrome de Creutzfeldt-Jakob/complicações , Síndrome de Creutzfeldt-Jakob/diagnóstico , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/etiologia
13.
Cereb Cortex ; 33(2): 486-496, 2022 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-35288751

RESUMO

The spatiotemporal dynamics of interaction between slow (delta or infraslow) waves and fast (gamma) activities during wakefulness and sleep are yet to be elucidated in human electrocorticography (ECoG). We evaluated phase-amplitude coupling (PAC), which reflects neuronal coding in information processing, using ECoG in 11 patients with intractable focal epilepsy. PAC was observed between slow waves of 0.5-0.6 Hz and gamma activities, not only during light sleep and slow-wave sleep (SWS) but even during wakefulness and rapid eye movement (REM) sleep. While PAC was high over a large region during SWS, it was stronger in the posterior cortical region around the temporoparietal junction than in the frontal cortical region during REM sleep. PAC tended to be higher in the posterior cortical region than in the frontal cortical region even during wakefulness. Our findings suggest that the posterior cortical region has a functional role in REM sleep and may contribute to the maintenance of the dreaming experience.


Assuntos
Sono REM , Sono de Ondas Lentas , Humanos , Sono REM/fisiologia , Eletrocorticografia , Sono/fisiologia , Vigília/fisiologia , Sono de Ondas Lentas/fisiologia , Eletroencefalografia
14.
Epileptic Disord ; 23(2): 299-312, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33855965

RESUMO

The aim of this study was to clarify the effect of a stable concentration of propofol on interictal high-frequency oscillations (HFOs), which may contribute to identifying the epileptogenic zone intraoperatively for resection surgery. Nine patients with drug-resistant focal epilepsy who underwent invasive pre-surgical evaluation with chronic subdural electrodes were recruited. Five-minute electrocorticograms during wakefulness, slow-wave sleep, and under a stable brain concentration of propofol were recorded with the same electrodes. In each patient, 1-10 pairs of electrodes were selected for both electrodes with EEG changes within 5 seconds from the ictal onset (ictal pattern for 5 seconds [IP5]) and those outside the area of IP5 with no interictal epileptiform discharges (non-epileptiform [nEPI]). The numbers of ripples (80-250 Hz) and fast ripples (>250 Hz) were measured semi-automatically using an established algorithm. Statistical testing was performed with a mixed effect model. Thirty-seven pairs of electrodes from nine patients were analysed for IP5 and 29 pairs from seven patients were analysed for nEPI. The numbers of HFOs differed between the areas (IP5 and nEPI) and among the conditions (wakefulness, slow-wave sleep, propofol anaesthesia) (all p <0.01). The HFO occurrence rates were significantly higher for IP5 than those for nEPI in all conditions (for both ripples and fast ripples in all conditions; p <0.01). The occurrence rates of HFOs for IP5 were significantly higher than those for nEPI under propofol anaesthesia. These are fundamental findings for intraoperative HFO analysis, however, the following limitations should be considered: physiological HFOs could not be completely differentiated from pathological HFOs; in order to apply an HFO detector, an appropriate cut-off threshold is needed; an artefact of the impulse response filter appears as an HFO; and the series was comprised of a small number of heterogeneous patients.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia , Epilepsias Parciais/cirurgia , Humanos , Preparações Farmacêuticas , Propofol/farmacologia
15.
Clin Neurophysiol ; 131(9): 2255-2264, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32736326

RESUMO

OBJECTIVE: We aimed to delineate the engagement of cortico-cortical and cortico-subcortical networks in the generation of epileptic spasms (ES) using integrated neurophysiological techniques. METHODS: Seventeen-year-old male patient with intractable ES underwent chronic subdural electrode implantation for presurgical evaluation. Networks were evaluated in ictal periods using high-frequency oscillation (HFO) analysis and in interictal periods using magnetoencephalography (MEG) and simultaneous electroencephalography, and functional magnetic resonance imaging (EEG-fMRI). Cortico-cortical evoked potentials (CCEPs) were recorded to trace connections among the networks. RESULTS: Ictal HFO revealed a network comprising multilobar cortical regions (frontal, parietal, and temporal), but sparing the positive motor area. Interictally, MEG and EEG-fMRI revealed spike-and-wave-related activation in these cortical regions. Analysis of CCEPs provided evidence of connectivity within the cortico-cortical network. Additionally, EEG-fMRI results indicate the involvement of subcortical structures, such as bilateral thalamus (predominantly right) and midbrain. CONCLUSIONS: In this case study, integrated neurophysiological techniques provided converging evidence for the involvement of a cortico-cortical network (sparing the positive motor area) and a cortico-subcortical network in the generation of ES in the patient. SIGNIFICANCE: Cortico-cortical and cortico-subcortical pathways, with the exception of the direct descending corticospinal pathway from the positive motor area, may play important roles in the generation of ES.


Assuntos
Ondas Encefálicas/fisiologia , Córtex Cerebral/fisiopatologia , Potenciais Evocados/fisiologia , Rede Nervosa/fisiopatologia , Convulsões/fisiopatologia , Adolescente , Mapeamento Encefálico , Córtex Cerebral/diagnóstico por imagem , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Rede Nervosa/diagnóstico por imagem , Convulsões/diagnóstico por imagem
16.
Intern Med ; 58(13): 1851-1858, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31257275

RESUMO

Objective Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by the progressive loss of the upper and lower motor neurons that progresses to paralysis of almost all skeletal muscles of the extremities, bulbar, and respiratory system. Although most ALS cases are sporadic, about 10% are dominantly inherited. We herein report an atypical phenotype of familial ALS (fALS). To elucidate the phenotype-genotype correlation of this atypical phenotype of fALS, clinical and genetic investigations were performed. Methods and Patients Five sibling patients (three men, two women) from a Japanese family and one healthy sibling (a woman) were clinically interviewed and examined. Genetic analyses, including genome-wide linkage analyses and whole-exome sequencing, were performed using genomic DNA extracted from the peripheral blood samples of these siblings. Results The clinical features of fALS are characterized by slow progression (mean duration of the disease±standard deviation [SD]: 19.6±3.9 years) and lower extremities-predominant late-onset muscular weakness (mean onset of muscular weakness±SD: 52.8±2.6 years). Genetic analyses revealed novel heterozygous missense mutations of c.2668C>T, p.R890C in the PLEC gene and c.421G>C, p.V141L in the ST3GAL6 gene in all affected siblings. Conclusion A new atypical fALS family with a benign clinical course is herein reported. We identified two candidate gene mutations of PLEC and ST3GAL6 linked to this phenotype.


Assuntos
Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/mortalidade , Predisposição Genética para Doença , Neurônios Motores/fisiologia , Debilidade Muscular/fisiopatologia , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/fisiopatologia , Povo Asiático , Evolução Fatal , Feminino , Genótipo , Humanos , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/fisiopatologia , Mutação , Doenças Neurodegenerativas/mortalidade , Fenótipo
17.
J Stroke Cerebrovasc Dis ; 28(7): 1979-1986, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30982718

RESUMO

BACKGROUND: Hemorrhagic infarction (HI) is among the most severe complications that can occur following the administration of intravenous recombinant tissue plasminogen activator (rt-PA). In the present study, we aimed to determine the optimal cut-off points of blood pressure (BP) for HI after rt-PA treatment, and to compare our findings with those for other prediction models. METHODS: We analyzed data from 109 consecutive patients with stroke treated at our hospital between 2009 and 2016. HI was confirmed via computed tomography or magnetic resonance imaging. Patients were classified into a symptomatic HI group, an asymptomatic HI group, and a non-HI group. BP was measured on admission and before rt-PA treatment. Glucose Race Age Sex Pressure Stroke Severity (GRASPS) and Totaled Health Risks in Vascular Events (THRIVE) scores were also calculated. Receiver operating characteristic (ROC) analysis was used to determine factors associated with symptomatic and asymptomatic HI. RESULTS: Among the 109 total patients, 25 patients developed symptomatic HI, while 22 patients developed asymptomatic HI. ROC analysis for predicting symptomatic and asymptomatic HI revealed that the area under the curve for pretreatment systolic BP (SBP) was .88 (95% confidence interval[CI]: .83-.94), while those for GRASPS and THRIVE scores were .75 (95% CI: .66-.85) and .69 (95% CI: .59-.79), respectively. We identified an optimal cut-off point of 160 mm Hg (sensitivity: 82.3%; specificity: 76.6%; diagnostic accuracy: 80.0%; positive predictive value: 76.6%; negative predictive value: 82.5%). CONCLUSIONS: Pre-treatment SBP may be a simple predictor of symptomatic and asymptomatic HI in patients with stroke undergoing rt-PA treatment.


Assuntos
Pressão Sanguínea , Fibrinolíticos/efeitos adversos , Hemorragias Intracranianas/induzido quimicamente , Acidente Vascular Cerebral/tratamento farmacológico , Terapia Trombolítica/efeitos adversos , Ativador de Plasminogênio Tecidual/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Feminino , Fibrinolíticos/administração & dosagem , Humanos , Infusões Intravenosas , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Proteínas Recombinantes/efeitos adversos , Sistema de Registros , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/fisiopatologia , Ativador de Plasminogênio Tecidual/administração & dosagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
18.
Rinsho Shinkeigaku ; 58(10): 609-616, 2018 Oct 24.
Artigo em Japonês | MEDLINE | ID: mdl-30270338

RESUMO

The epilepsy syndrome of autoimmune etiology, namely, autoimmune epilepsy has attracted attention in recent years, as was reflected in the new etiology of "immunity" in the Epilepsy Classification of the International League Against Epilepsy (2017). However, no specific tests other than neuronal antibodies have been established. We proposed a diagnostic algorithm for autoimmune epilepsy and preliminarily investigated its clinical utility. We applied this algorithm to 70 patients who were suspected as having autoimmune epilepsy from clinical symptoms and laboratory findings in our institute. At least one of the three neuronal antibodies (antibodies to N-methyl-D-aspartic acid receptor (NMDAR), glutamic acid decarboxylase (GAD), and voltage-gated potassium channels (VGKC) complex) was evaluated. In this two-step algorithm, the patients were initially screened by clinical features and then evaluated by laboratory findings (neuronal antibodies, cerebrospinal fluid (CSF), MRI, FDG-PET). The results of preliminary application of the algorithm are described. One of the three neuronal antibodies was positive in 13 patients. In this preliminary investigation, it was suggested that two or more abnormal findings in the diagnostic tests (CSF, MRI, FDG-PET) favors the diagnosis of autoimmune epilepsy. On the other hand, two patients with a positive neuronal antibody test failed the first step (clinical features), partly because epilepsy was not the major manifestation of autoimmune encephalitis (VGKC complex antibody) or due to a relatively low titer of the antibody (GAD antibody). Recruitment of the patient cohort with comprehensive neuronal antibody testing and multivariate analysis of laboratory findings is warranted for validation and modification of the proposed algorithm.


Assuntos
Algoritmos , Autoanticorpos/líquido cefalorraquidiano , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Biomarcadores/líquido cefalorraquidiano , Diagnóstico Precoce , Epilepsia/diagnóstico , Imageamento por Ressonância Magnética , Neuroimagem , Tomografia por Emissão de Pósitrons , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Fluordesoxiglucose F18 , Glutamato Descarboxilase/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Canais de Potássio de Abertura Dependente da Tensão da Membrana/líquido cefalorraquidiano , Compostos Radiofarmacêuticos , Receptores de N-Metil-D-Aspartato/imunologia , Estudos Retrospectivos , Adulto Jovem
20.
J Neuroimaging ; 25(3): 514-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25052423

RESUMO

Bilateral optic neuropathy with bilateral putaminal lesions may be caused by methanol or cyanide poisoning or mitochondrial disorders including Leber hereditary optic neuropathy and Leigh syndrome. We report the case of a 34-year-old Japanese man who developed bilateral visual loss 5 days after the development of gastrointestinal symptoms. Magnetic resonance imaging of the brain on admission revealed high-intensity signal areas in the bilateral putamina on diffusion-weighted and T2-weighted images as well as a high-intensity signal area in the left middle cerebellar peduncle that had been identified 3 years previously. We diagnosed bilateral optic neuropathy with bilateral putaminal lesions caused by preceding infection-triggered demyelination. We administered methylprednisolone, but his vision did not recover.


Assuntos
Imageamento por Ressonância Magnética/métodos , Doenças do Nervo Óptico/diagnóstico , Putamen/diagnóstico por imagem , Putamen/patologia , Tomografia Computadorizada por Raios X/métodos , Adulto , Diagnóstico Diferencial , Humanos , Masculino
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