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1.
J Infect Chemother ; 2021 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-33583741

RESUMEN

INTRODUCTION: To clarify the pathology of children with acute encephalopathy and other neurological disorders, the involvement of high-mobility group box 1 (HMGB1), which is a representative of danger-associated molecular patterns, and angiogenesis-related growth factors were investigated. PATIENTS AND METHODS: Participants were 12 children with acute encephalopathy (influenza, rotavirus, and others), 7 with bacterial meningitis, and 6 with epilepsy disease (West syndrome). Twenty-four patients with non-central nervous system (CNS) infections as a control group were admitted to our hospital. We examined the levels of HMGB1, platelet-derived growth factor (PDGF), vascular endothelial growth factor (VEGF), and other cytokines in the serum and cerebrospinal fluid (CSF) of the subjects. RESULTS: Serum and CSF HMGB1 levels were significantly higher in the encephalopathy and meningitis groups than in the West syndrome and control groups. CSF HMGB1 levels correlated with those of interleukin-6 and -8. CSF HMGB1 and VEGF levels were correlated, and PDGF showed a positive relationship. CONCLUSION: HMGB1 and angiogenesis-related growth factors appear to play pivotal roles in the pathophysiology of CNS infections.

2.
J Neuroimmunol ; 352: 577475, 2021 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-33454554

RESUMEN

In this study, we assessed circulating immune cells and plasma cytokine levels in 15 pediatric patients with drug-resistant epilepsy (DRE). DRE patients had a significantly higher percentage of CD14+ monocytes positive for IL-1ß, IL-1 receptor antagonist, IL-6, and TNF-α than controls. Significantly higher intracellular levels of IFN-γ in CD4+ T cells and NK cells were also found in DRE patients. The level of IL-1ß+ CD14+ monocytes correlated with seizure frequency, and intracellular levels of IFN-γ in NKT-like cells were negatively correlated with the duration of epilepsy. Peripheral immune cells might be involved in the pathogenesis of DRE.

3.
J Clin Med ; 9(11)2020 Nov 19.
Artículo en Inglés | MEDLINE | ID: mdl-33228144

RESUMEN

Although migraines are common in children and adolescents, they have a robustly negative impact on the quality of life of individuals and their families. The current treatment guidelines outline the behavioral and lifestyle interventions to correct common causative factors, such as negative emotional states, lack of exercise and sleep, and obesity; however, the evidence of their effectiveness is insufficient. To create a plan for disseminating optimal pediatric headache education, we reviewed the current evidence for factors correlated with migraine. We assessed three triggers or risk factors for migraines in children and adolescents: stress, sleep poverty, and alimentation (including diet and obesity). While there is a gradual uptick in research supporting the association between migraine, stress, and sleep, the evidence for diet-related migraines is very limited. Unless obvious dietary triggers are defined, clinicians should counsel patients to eat a balanced diet and avoid skipping meals rather than randomly limiting certain foods. We concluded that there is not enough evidence to establish a headache education plan regarding behavioral and lifestyle interventions. Clinicians should advise patients to avoid certain triggers, such as stress and sleep disorders, and make a few conservative dietary changes.

4.
Epilepsia Open ; 5(3): 442-450, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32913952

RESUMEN

Objective: To elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy (MAE) or Doose syndrome. Methods: We collected clinical information and blood samples from 29 patients with MAE. We performed whole-exome sequencing for all except one MAE case in whom custom capture sequencing identified a variant. Results: We newly identified four variants: SLC6A1 and HNRNPU missense variants and microdeletions at 2q24.2 involving SCN1A and Xp22.31 involving STS. Febrile seizures preceded epileptic or afebrile seizures in four patients, of which two patients had gene variants. Myoclonic-atonic seizures occurred at onset in four patients, of which two had variants, and during the course of disease in three patients. Variants were more commonly identified in patients with a developmental delay or intellectual disability (DD/ID), but genetic status was not associated with the severity of DD/ID. Attention-deficit/hyperactivity disorder and autistic spectrum disorder were less frequently observed in patients with variants than in those with unknown etiology. Significance: MAE patients had genetic heterogeneity, and HNRNPU and STS emerged as possible candidate causative genes. Febrile seizures prior to epileptic seizures and myoclonic-atonic seizure at onset indicate a genetic predisposition to MAE. Comorbid conditions were not related to genetic predisposition to MAE.

5.
J Child Neurol ; 35(10): 667-673, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32476572

RESUMEN

BACKGROUND: Migraines are a broad spectrum of disorders classified by the type of aura with some requiring attentive treatment. Vasoconstrictors, including triptans, should be avoided in the acute phase of migraines with brainstem aura, in hemiplegic migraine, and in retinal migraine. This study investigated the characteristics and burden of these migraines. METHODS: Medical charts of 278 Japanese pediatric patients with migraines were retrospectively reviewed. Migraine burden of migraines with brainstem aura, hemiplegic migraines, and retinal migraine was assessed using the Headache Impact Test-6™ (HIT-6) and the Pediatric Migraine Disability Assessment scale (PedMIDAS). RESULTS: Of 278 patients screened, 12 (4.3%) patients with migraines with brainstem aura (n = 5), hemiplegic migraines (n = 2), and retinal migraine (n = 5) were enrolled in the study. All patients had migraine with/without typical aura, whereas some patients had coexisting migraine with another type of headache (chronic tension-type headache in 3 patients, and 1 each with frequent episodic tension-type headache, headache owing to medication overuse, and chronic migraine). Migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients with coexisting headaches had higher HIT-6 or PedMIDAS scores, whereas migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients without coexisting headache did not show high HIT-6 or PedMIDAS scores. CONCLUSION: All migraines with brainstem aura, hemiplegic migraines, and retinal migraine patients experienced migraine with or without typical aura, and some patients having other coexisting headaches also had high PedMIDAS and HIT-6 scores. PedMIDAS and HIT-6 should not be considered diagnostic indicators of migraines with brainstem aura, hemiplegic migraines, or retinal migraine. In clinical practice for headaches in children, careful history taking and proactive assessment of the aura are needed for accurate diagnosis of migraines with brainstem aura, hemiplegic migraines, and retinal migraine.

7.
Brain Dev ; 42(7): 523-528, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32336482

RESUMEN

BACKGROUND: Riboflavin may prevent migraine episodes; however, there is limited evidence of its effectiveness in pediatric populations. This study investigated the effectiveness of riboflavin and clinical predictors of response in children with migraines. METHODS: We retrospectively reviewed data from 68 Japanese children with migraines, of whom 52 also exhibited another type of headache. Patients received 10 or 40 mg/day of riboflavin. We evaluated the average migraine frequency per month as a baseline and after 3 months of riboflavin therapy to determine the effectiveness and clinical predictors of response. RESULTS: The frequency of migraine episodes was significantly lower at 3 months than at baseline (median, [interquartile range], 5.2 (3-7) vs. 4.0 (2-5); p < 0.01). Twenty-five patients (36.7%) showed 50% or greater reduction in episode frequency (responders), while 18 (26.5%) showed a 25%-50% reduction. We compared responders (n = 25) and non-responders (n = 43) and found no significant differences in sex, familial history, riboflavin dose, migraine type (i.e., presence or absence of aura), age at headache onset, or age at consultation. However, non-responders were more likely to have co-morbid non-migraine headaches (odds ratio, 4.11; 95% confidence interval [CI], 1.27-13.33; p = 0.02); this variable was also significant in a multivariate analysis (adjusted odds ratio, 3.8; 95% CI, 1.16-12.6; p = 0.03). Of the co-morbid headache types, only tension headaches were significant (odds ratio, 0.176; 95% CI, 0.04-0.73; p = 0.013). No adverse effects of riboflavin were identified. CONCLUSIONS: Low-dose riboflavin is safe and modestly effective for migraines in children. It may be especially beneficial for children without other co-morbid headache types.

8.
J Child Neurol ; 33(8): 528-533, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29724126

RESUMEN

Adrenocorticotropic hormone (ACTH) therapy is effective for West syndrome; however, the underlying mechanism of action remains unknown. This study explored this mechanism in 5 Japanese patients with West syndrome, injected with ACTH for 28 days. Serum samples were obtained before and 30, 120, and 720 minutes after ACTH injection divided into an "early" (1-4 days) and a "late" (10-28 days) group. Responses to ACTH over time were analyzed by measuring the levels of 27 cytokines. In the early group, serum levels of interleukins-5, -9, and -17, basic fibroblast growth factor, interferon (IFN-γ), IFN-γ-inducible protein 10, chemokine ligand (CCL) 3 and 4, and platelet-derived growth factor were higher in all patients before ACTH administration than in the 720-minute time point. In the late group, no definite trend was observed except for decreased CCL2 levels after ACTH administration. These changes may correlate with mechanisms underlying the anticonvulsant effects of ACTH.


Asunto(s)
Hormona Adrenocorticotrópica/uso terapéutico , Anticonvulsivantes/uso terapéutico , Citocinas/sangre , Espasmos Infantiles/sangre , Espasmos Infantiles/tratamiento farmacológico , Biomarcadores/sangre , Humanos , Lactante , Espasmos Infantiles/inmunología , Resultado del Tratamiento
9.
J Child Neurol ; 33(6): 417-421, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29618277

RESUMEN

In this study, the authors assessed cerebrospinal fluid cytokine levels and single-photon emission computed tomography (SPECT) findings in complex febrile seizures. This study included 23 Japanese patients with complex febrile seizures. Twenty patients underwent SPECT and 12 underwent analysis of cerebrospinal fluid cytokine levels (interleukin [IL]-6, interleukin-10, interleukin-17, interleukin-1ß, tumor necrosis factor-α, and interferon-γ); 9 patients underwent both studies. Cerebrospinal fluid cytokine levels were compared between the current complex febrile seizure patients and 30 patients with acute encephalopathy. In 17 of 20 patients, SPECT findings revealed areas of hypoperfusion, including the frontal (5), occipital (4), and lobular (4) regions, overlapping with other areas. Relative to patients with acute encephalopathy, those with complex febrile seizures exhibited significantly lower cerebrospinal fluid interleukin-6, interleukin-1ß, tumor necrosis factor-α, and interleukin-10 levels and significantly higher interleukin-17 levels. As patients with complex febrile seizures frequently exhibit abnormal SPECT findings, cerebrospinal fluid interleukin-17 levels might provide a valid biomarker to discriminate complex febrile seizures and acute encephalopathy, regardless of SPECT findings.


Asunto(s)
Encéfalo/diagnóstico por imagen , Citocinas/líquido cefalorraquídeo , Convulsiones Febriles/diagnóstico por imagen , Convulsiones Febriles/metabolismo , Tomografía Computarizada de Emisión de Fotón Único , Biomarcadores/metabolismo , Encéfalo/metabolismo , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino
10.
J Hum Genet ; 63(4): 529-532, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29362492

RESUMEN

The diphthamide biosynthesis 1 (DPH1) gene encodes one of the essential components of the enzyme catalyzing the first step of diphthamide formation on eukaryotic elongation factor 2 (EEF2). Diphthamide is the posttranslationally modified histidine residue on EEF2 that promotes protein chain elongation in the ribosome. DPH1 defects result in a failure of protein synthesis involving EEF2, leading to growth defects, embryonic lethality, and cell death. In humans, DPH1 mutations cause developmental delay with a short stature, dysmorphic features, and sparse hair, and are inherited in an autosomal recessive manner (MIM#616901). To date, only two homozygous missense mutations in DPH1 (c.17T>A, p.Met6Lys and c.701T>C, p.Leu234Pro) have been reported. We used WES to identify novel compound heterozygous mutations in DPH1 (c.289delG, p.Glu97Lysfs*8 and c.491T>C, p.Leu164Pro) in a patient from a nonconsanguineous family presenting with intellectual disability, a short stature, craniofacial abnormalities, and external genital abnormalities. The clinical phenotype of all patients with DPH1 mutations, including the current patient, revealed core features, although the external genital anomaly was newly recognized in our case.


Asunto(s)
Obstrucción de las Vías Aéreas/diagnóstico , Obstrucción de las Vías Aéreas/genética , Heterocigoto , Antígenos de Histocompatibilidad Menor/genética , Mutación , Fenotipo , Proteínas Supresoras de Tumor/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/genética , Alelos , Sustitución de Aminoácidos , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Análisis Mutacional de ADN , Facies , Humanos , Recién Nacido , Masculino , Linaje , Síndrome
11.
J Clin Lab Anal ; 32(1)2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28303609

RESUMEN

BACKGROUND: In this study, the pathologies of acute meningitis and encephalopathy were investigated, and biomarkers useful as prognostic indices were searched for. METHODS: The subjects were 31 children with meningitis, 30 with encephalopathy, and 12 with convulsions following gastroenteritis. Control group consisted of 24 children with non-central nervous system infection. Cerebrospinal fluid cytokine analysis was performed. RESULTS: Chemokines significantly increased in the bacterial meningitis group compared with those in viral meningitis and encephalopathy groups. On comparison of interleukin(IL)-17, it increased in cases with status epilepticus in influenza-associated encephalopathy group. In the rotavirus encephalopathy and convulsions following gastroenteritis groups, IL-17 particularly increased in the convulsions following gastroenteritis group. IL-8 increased in all cases irrespective of the causative virus. CONCLUSIONS: In the encephalopathy group, IL-8 may serve as a neurological prognostic index. IL-17 was increased in the convulsions following gastroenteritis group, particularly in cases with status epilepticus, suggesting its involvement as a convulsion-related factor.


Asunto(s)
Biomarcadores/líquido cefalorraquídeo , Encefalopatías/líquido cefalorraquídeo , Quimiocinas/líquido cefalorraquídeo , Interleucina-17/líquido cefalorraquídeo , Meningitis/líquido cefalorraquídeo , Encefalopatías/diagnóstico , Encefalopatías/epidemiología , Estudios de Casos y Controles , Preescolar , Femenino , Humanos , Lactante , Masculino , Meningitis/diagnóstico , Meningitis/epidemiología , Pronóstico
12.
Int J Neurosci ; 127(1): 44-50, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26732732

RESUMEN

No biomarker has been established as a prognostic indicator of acute encephalopathy associated with various etiological factors. In this study, we examined useful prognostic biomarkers in patients with acute encephalopathy associated with respiratory syncytial virus (RSV) infection. The subjects were 11 children with RSV-associated encephalopathy admitted to our hospital. We measured the levels of interleukin (IL)-6, brain-derived neurotrophic factor (BDNF) and nitrogen oxide (NO)x in cerebrospinal fluid collected on the day of admission. Using the pediatric cerebral performance categories (PCPC) score as a prognostic indicator, we evaluated the association between the biomarkers and neurologic prognosis. Concerning neurologic prognosis, sequelae were noted in more than 50% of the subjects. There was no association between prognosis and age/sex. Increases in the levels of all biomarkers were observed in all subjects. IL-6 and BDNF levels were correlated with PCPC score, but not with NOx. Of the biomarkers investigated, the IL-6 and BDNF levels in cerebrospinal fluid were shown to be correlated with neurologic prognosis. Because many patients with this disease had severe sequelae, assessment should be conducted by early evaluation of the biomarkers examined in this study with respect to the clinical course.


Asunto(s)
Factor Neurotrófico Derivado del Encéfalo/líquido cefalorraquídeo , Encefalitis Viral/líquido cefalorraquídeo , Encefalitis Viral/fisiopatología , Interleucina-6/líquido cefalorraquídeo , Óxidos de Nitrógeno/líquido cefalorraquídeo , Infecciones por Virus Sincitial Respiratorio/líquido cefalorraquídeo , Índice de Severidad de la Enfermedad , Adolescente , Biomarcadores/líquido cefalorraquídeo , Niño , Preescolar , Femenino , Humanos , Masculino , Pronóstico
13.
J Infect Chemother ; 23(2): 80-84, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27887787

RESUMEN

INTRODUCTION: To search for an index of neurologic prognosis of children with influenza-associated encephalopathy (IAE), involvement of angiogenesis-related growth factors in the pathology was investigated. PATIENTS AND METHODS: The subjects were 11 IAE patients, 6 patients with bacterial meningitis (BM), and 24 patients with non-central nervous system infection as a control group admitted to our hospital. The correlation between the vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) levels in cerebrospinal fluid and the relationship with an index of inflammatory marker, interleukin (IL)-6, were investigated. Using the Pediatric Cerebral Performance Categories (PCPC) score as a prognostic indicator, we evaluated the association between the biomarkers and neurologic prognosis. RESULT: PDGF significantly increased in the IAE group compared with that in the BM group. Cerebrospinal fluid VEGF and PDGF increased in all IAE and BM patients compared with that in the control group, and VEGF and PDGF were positively correlated in the 2 groups. No correlation was found between the cerebrospinal fluid VEGF and PDGF levels and IL-6 level in the IAE group, whereas a correlation was found in the BM group. All these factors increased in patients with poor neurologic prognosis. DISCUSSION: It is possible that the disease state of IAE can be evaluated based on vascular endothelial disorder-related markers.


Asunto(s)
Encefalitis Viral/líquido cefalorraquídeo , Gripe Humana/líquido cefalorraquídeo , Meningitis Bacterianas/líquido cefalorraquídeo , Factor de Crecimiento Derivado de Plaquetas/líquido cefalorraquídeo , Factor A de Crecimiento Endotelial Vascular/líquido cefalorraquídeo , Biomarcadores/líquido cefalorraquídeo , Estudios de Casos y Controles , Preescolar , Encefalitis Viral/complicaciones , Femenino , Humanos , Lactante , Gripe Humana/complicaciones , Interleucina-6/líquido cefalorraquídeo , Masculino , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas
14.
Neuropediatrics ; 47(1): 39-45, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26717553

RESUMEN

The distinction between acute encephalopathy (AE) and convulsive disorders with pyrexia may be problematic. We analyzed the clinical and laboratory features in 127 children who were admitted for suspected AE. They were categorized into (1) definite acute encephalopathy group (DAEG; n = 17, abnormal findings on electroencephalography [EEG], magnetic resonance imaging, or single-photon emission computed tomography [SPECT] with prolonged impaired consciousness), (2) probable acute encephalopathy group (PAEG; n = 21, abnormal findings without prolonged impaired consciousness), and (3) nonacute encephalopathy group (NAEG; n = 89). Cerebrospinal fluid interleukin-6 (CSF IL-6), and serum aspartate aminotransferase (AST), alanine aminotransferase (ALT), and creatine phosphokinase levels were significantly higher in DAEG compared with NAEG but not PAEG. No significant differences were observed between DAEG and PAEG except for serum creatinine levels. In PAEG, an area of hypoperfusion was observed on SPECT images of nine patients with normal CSF IL-6 levels. AE was suspected in two PAEG patients who exhibited high CSF IL-6 levels and abnormal EEG findings without abnormal SPECT findings. All seven patients with severe neurological sequelae were categorized to DAEG. CSF IL-6 and serum AST, ALT, and creatine kinase levels may be valid predictors of typical AE; prolonged impaired consciousness is an important sign of AE. However, SPECT may not be suitable for initial diagnosis of AE.


Asunto(s)
Encefalopatías/diagnóstico , Encéfalo/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único , Enfermedad Aguda , Adulto , Encéfalo/patología , Encefalopatías/sangre , Diagnóstico Diferencial , Electroencefalografía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Estadísticas no Paramétricas , Transaminasas/sangre
15.
J Infect Chemother ; 21(8): 610-2, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25960155

RESUMEN

BACKGROUND: Acute rheumatic fever (ARF) is an illness caused by group A streptococcus (GAS) infection, and remains the leading cause of acquired heart disease in worldwide. Distinguishing between ARF and septic arthritis may be difficult. This report describes a case of suppurative arthritis overlapping with ARF. CASE PRESENTATION: A 4-year-old, previously healthy boy presented with fever and left leg pain. The level of anti-streptolysin O (ASO) was elevated. His throat swab cultures grew GAS, but none were detected in his synovial fluid. Magnetic resonance imaging revealed suspected arthritis and osteomyelitis. The patient was treated for septic arthritis, but was subsequently diagnosed with ARF, after the development of carditis. CONCLUSION: The clinical and laboratory features of ARF and suppurative arthritis demonstrate substantial overlap. Patients with an elevated ASO should undergo a careful cardiac examination for carditis associated with ARF by an echocardiogram.


Asunto(s)
Artritis Infecciosa/diagnóstico , Artritis Juvenil/diagnóstico , Osteomielitis/diagnóstico , Fiebre Reumática/diagnóstico , Fiebre Reumática/tratamiento farmacológico , Infecciones Estreptocócicas/complicaciones , Streptococcus pyogenes/aislamiento & purificación , Enfermedad Aguda , Artritis Infecciosa/microbiología , Artritis Juvenil/microbiología , Preescolar , Diagnóstico Diferencial , Humanos , Masculino , Miocarditis/microbiología , Osteomielitis/microbiología , Fiebre Reumática/microbiología , Infecciones Estreptocócicas/tratamiento farmacológico
16.
Neurochem Res ; 39(11): 2143-9, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25119165

RESUMEN

We investigated changes in the brain-derived neurotrophic factor (BDNF) and interleukin (IL)-6 levels in pediatric patients with central nervous system (CNS) infections, particularly viral infection-induced encephalopathy. Over a 5-year study period, 24 children hospitalized with encephalopathy were grouped based on their acute encephalopathy type (the excitotoxicity, cytokine storm, and metabolic error types). Children without CNS infections served as controls. In serum and cerebrospinal fluid (CSF) samples, BDNF and IL-6 levels were increased in all encephalopathy groups, and significant increases were noted in the influenza-associated and cytokine storm encephalopathy groups. Children with sequelae showed higher BDNF and IL-6 levels than those without sequelae. In pediatric patients, changes in serum and CSF BDNF and IL-6 levels may serve as a prognostic index of CNS infections, particularly for the diagnosis of encephalopathy and differentiation of encephalopathy types.


Asunto(s)
Encefalopatías/virología , Factor Neurotrófico Derivado del Encéfalo/sangre , Factor Neurotrófico Derivado del Encéfalo/líquido cefalorraquídeo , Enfermedades Virales del Sistema Nervioso Central/metabolismo , Interleucina-6/sangre , Interleucina-6/líquido cefalorraquídeo , Encefalopatías/sangre , Encefalopatías/líquido cefalorraquídeo , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino
17.
Neuropediatrics ; 44(4): 218-21, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23450341

RESUMEN

Acute encephalopathy with febrile convulsive status epilepticus (AEFCSE) is the most common type of acute encephalopathy in childhood in Japan, which develops with prolonged febrile convulsion, followed by mild unconsciousness. It is generally sporadic and nonrecurrent. In this report, a 1-year-old girl showed signs of AEFCSE triggered by respiratory syncytial virus infection. Two years later, she presented with AEFCSE triggered by influenza virus infection, resulting in severe neurologic sequelae. The patient had a thermolabile genotype of carnitine palmitoyltransferase II (CPT II) variations consisting of three single nucleotide polymorphisms in exons 4 [1055T > G/F352C and 1102G > A/V368I] and 5 [1939A > G/M647V]. The polymorphism has been identified as a genetic predisposition for acute encephalopathy. This report presents the first case of recurrent encephalopathy with CPT II variations that may partially associate with pathogenesis of recurrent AEFCSE.


Asunto(s)
Encefalopatías/genética , Carnitina O-Palmitoiltransferasa/genética , Polimorfismo de Nucleótido Simple/genética , Encefalopatías/complicaciones , Encefalopatías/diagnóstico , Electroencefalografía , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Convulsiones Febriles/etiología , Estado Epiléptico/etiología
18.
J Infect Chemother ; 18(6): 827-31, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22572852

RESUMEN

Respiratory syncytial virus (RSV) infection in children can be associated with acute encephalopathy. However, the roles of cytokines in the cerebrospinal fluid (CSF) of such patients remain unevaluated. In this study, a profile of 17 cytokines was determined for eight RSV-infected children with neurological complications. In one patient with high levels of 13 cytokines, a cytokine storm was considered to have occurred. Interleukin (IL)-6, IL-8, monocyte chemoattractant protein (MCP)-1, and macrophage inflammatory protein (MIP)-1ß levels were also high in other patients. These data suggest that chemokines in CSF play roles in neurological complications in RSV-infected children.


Asunto(s)
Enfermedades Virales del Sistema Nervioso Central/líquido cefalorraquídeo , Quimiocinas/biosíntesis , Quimiocinas/líquido cefalorraquídeo , Infecciones por Virus Sincitial Respiratorio/líquido cefalorraquídeo , Virus Sincitiales Respiratorios/aislamiento & purificación , Enfermedades Virales del Sistema Nervioso Central/virología , Quimiocinas/genética , Preescolar , Femenino , Genoma Viral , Humanos , Lactante , Recién Nacido , Masculino , ARN Viral/líquido cefalorraquídeo , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitiales Respiratorios/genética
19.
No To Hattatsu ; 44(1): 55-9, 2012 Jan.
Artículo en Japonés | MEDLINE | ID: mdl-22352032

RESUMEN

Congenital cytomegalovirus (CMV) infection occurs frequently in neonates. However, there are no screening tests or definitive treatments for this infection in Japan. We report a case of a 21-day-old Japanese boy with congenital CMV infection. He was referred to our hospital for treatment of congenital bilateral deafness. Brain magnetic resonance imaging (MRI) revealed cortical dysplasia of the temporal poles, enlarged ventricles, and areas of abnormal intensity in the white matter. He was given a diagnosis of congenital CMV infection based on the detection of CMV DNA in his urine and the umbilical cord. After the administration of valganciclovir, no CMV DNA was detected in his serum, and brain MRI and electroencephalogram findings, motor development, and deafness improved. Further investigation is needed to establish a screening test and treatment for congenital CMV infection in Japan.


Asunto(s)
Antivirales/administración & dosificación , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/tratamiento farmacológico , Ganciclovir/análogos & derivados , Anticuerpos Antivirales/sangre , Biomarcadores/sangre , Biomarcadores/orina , Citomegalovirus/genética , Citomegalovirus/inmunología , Infecciones por Citomegalovirus/diagnóstico , ADN Viral/orina , Electroencefalografía , Ganciclovir/administración & dosificación , Humanos , Inmunoglobulina M/sangre , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Resultado del Tratamiento , Valganciclovir
20.
J Neurol Sci ; 298(1-2): 106-9, 2010 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-20807663

RESUMEN

The aim of this study was to evaluate whether proconvulsive interleukin-1ß (IL-1ß) and anticonvulsive IL-1 receptor antagonist (IL-1Ra) are markers of the effectiveness of treatment in patients with West syndrome (WS). We analyzed serum and cerebrospinal fluid (CSF) levels of IL-1ß and IL-1Ra in 13 patients with WS. The serum IL-1Ra levels postimprovement (average, 384.6 pg/ml) in clinical and electroencephalographic (EEG) findings were significantly higher than the preimprovement values (average, 240.6 pg/ml). No significant difference in the preimprovement serum IL-1Ra levels was noted between the anticonvulsant (AED)-response and adrenocorticotropic hormone (ACTH)-response groups (260.0 pg/ml, n=7 vs. 218.0 pg/m, n=6) and the cryptogenic and symptomatic groups (290.1 pg/ml, n=4 vs. 218.3 pg/m, n=9), respectively; as for the preimprovement CSF levels, the AED-response group (114.5 pg/m; n=3) and ACTH-response groups (138.0 pg/m; n=6) and the cryptogenic (59.3 pg/m; n=3) and symptomatic groups (165.6 pg/m; n=6), respectively. Serum and CSF IL-1ß levels were detected only in 3 patients preimprovement. Serum IL-1Ra levels were elevated subsequent to resolution of clinical and EEG findings in WS patients. A larger study should be conducted to clarify whether an immunological processes are concerned with the pathophysiology of WS.


Asunto(s)
Proteína Antagonista del Receptor de Interleucina 1/sangre , Espasmos Infantiles/sangre , Espasmos Infantiles/tratamiento farmacológico , Hormona Adrenocorticotrópica/uso terapéutico , Anticonvulsivantes/uso terapéutico , Electroencefalografía , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Lactante , Proteína Antagonista del Receptor de Interleucina 1/líquido cefalorraquídeo , Interleucina-1beta/sangre , Interleucina-1beta/líquido cefalorraquídeo , Masculino , Espasmos Infantiles/líquido cefalorraquídeo
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