13 results on '"Masami, Togawa"'
Search Results
2. Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study
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Shinjiro Akaboshi, Koyo Ohno, Hiroyuki Yamada, Masami Togawa, Hisashi Noma, Shigeru Higami, Yasushi Utsunomiya, Yoshihiro Maegaki, Madoka Shiota, Takayoshi Okada, Masayosi Oguri, and Hirokazu Tsuchie
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Male ,musculoskeletal diseases ,Longitudinal study ,Adolescent ,medicine.medical_treatment ,media_common.quotation_subject ,Persons with Mental Disabilities ,Population ,macromolecular substances ,Population based ,Medical care ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Developmental Neuroscience ,Prevalence ,Humans ,Medicine ,Longitudinal Studies ,Child ,education ,media_common ,Administrative services organization ,education.field_of_study ,Rehabilitation ,business.industry ,technology, industry, and agriculture ,General Medicine ,Disabled Children ,Secular variation ,Equipment and Supplies ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,business ,Delivery of Health Care ,Welfare ,030217 neurology & neurosurgery ,Demography - Abstract
To investigate the prevalence and background of children with medical complexity (CMC) and its secular trend in Japan.CMC were defined as patients under the age of 20 years requiring medical care and devices. The patients were enrolled using the national health insurance claims data of three hospitals and two rehabilitation centers in Tottori Prefecture. The study period was divided into three periods: Period 1, 2007-2010; Period 2, 2011-2014; and Period 3, 2015-2018.A total of 378 CMC were enrolled. The prevalence of CMC was 1.88 per 1000 population among subjects aged20 years in 2018, and it increased by approximately 1.9 times during the study period. The number of CMC who presented with severe motor and intellectual disabilities did not change from Period 1 to Period 3. Meanwhile, the number of CMC who had relatively preserved motor and intellectual abilities increased from 58 to 98. The proportion of CMC who required respiratory management and oxygen therapy increased by 1.3 and 1.8 times, respectively. By contrast, the proportion of CMC who need tube feeding decreased significantly between periods 1 and 3 (P 0.05).The prevalence of CMC increased almost twice during the 12-year study period; however, the increase in the number of patients with relatively preserved motor and intellectual abilities was pronounced. This study showed that the need for medical care and devices differed based on the underlying disorders and severity of CMC; therefore, individualized medical, welfare, and administrative services and education about the various types of CMC must be provided.
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- 2020
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3. Clinical and genetic characteristics of patients with Doose syndrome
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Kazuyuki Nakamura, Nodoka Hinokuma, Nobutsune Ishikawa, Koyo Ohno, Kazuhiro Iwama, Satoko Miyatake, Masataka Fukuoka, Naomichi Matsumoto, Kazuna Yamamoto, Masano Amamoto, Mariko Kasai, Tetsuhiro Fukuyama, Toshiyuki Itai, Shinjiro Akaboshi, Chikako Ogawa, Yohane Miyata, Pin Fee Chong, Hiroko Ikeda, Tomoe Shinagawa, Yuichi Abe, Mitsuhiro Kato, Kiyohito Okumiya, Shingo Oana, Shumpei Uchino, Kozue Kobayashi, Ryutaro Kira, Hideyuki Asai, Akira Hojo, Masami Togawa, Hirotomo Saitsu, Yoshihiro Maegaki, Mitsuko Nakashima, and Takeshi Mizuguchi
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Pediatrics ,medicine.medical_specialty ,SLC6A1 ,business.industry ,Genetic heterogeneity ,Genetic Status ,medicine.disease ,STS ,Comorbidity ,lcsh:RC346-429 ,comorbidity ,Epilepsy ,Neurology ,HNRNPU ,Intellectual disability ,Full‐length Original Research ,medicine ,Etiology ,Genetic predisposition ,Missense mutation ,Neurology (clinical) ,business ,lcsh:Neurology. Diseases of the nervous system ,Doose syndrome - Abstract
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.
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- 2020
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4. Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus
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Akiko Abe, Satoshi Tsurui, Soichiro Toda, Muneaki Matsuo, Hiroko Iwamatsu, Takuji Nakamura, Ayako Senju, Hidenori Tanaka, Takushi Inoue, Atsushi Kawaguchi, Ryutaro Kira, Tomomi Naitou, Kenji Furuno, Takafumi Sakakibara, Mitsuo Motobayashi, Marina Hashiguchi, Tatsuharu Sato, Naoya Higuchi, Nobuyoshi Sugiyama, Masami Togawa, Ken ichi Torii, Shigeki Ishii, Kazunari Takamura, Yuko Ichimiya, and Fumio Ichinose
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Male ,medicine.medical_specialty ,Encephalopathy ,Status epilepticus ,Procalcitonin ,Seizures, Febrile ,chemistry.chemical_compound ,Status Epilepticus ,Developmental Neuroscience ,Japan ,Risk Factors ,Internal medicine ,Febrile seizure ,medicine ,Humans ,Risk factor ,Retrospective Studies ,Creatinine ,Univariate analysis ,Brain Diseases ,Epilepsy ,business.industry ,Incidence (epidemiology) ,Incidence ,Infant ,General Medicine ,medicine.disease ,Hospitals ,chemistry ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Objective To clarify the incidence and risk factors of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in pediatric patients with febrile status epilepticus (FSE). Methods We retrospectively surveyed patients with FSE (≥20 min and ≥40 min) who were younger than 6 years by mailing a questionnaire to 1123 hospitals in Japan. The survey period was 2 years. We then collected clinical data on patients with prolonged febrile seizures (PFS) ≥40 min and those with AESD, and compared clinical data between the PFS and AESD groups. Results The response rate for the primary survey was 42.3%, and 28.0% of hospitals which had applicable cases responded in the secondary survey. The incidence of AESD was 4.3% in patients with FSE ≥20 min and 7.1% in those with FSE ≥40 min. In the second survey, a total of 548 patients had FSE ≥40 min (AESD group, n = 93; PFS group, n = 455). Univariate analysis revealed significant between-group differences in pH, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, creatine kinase, NH3, procalcitonin (PCT), uric acid, blood urea nitrogen, creatinine (Cr), and lactate. Multivariate analysis using stratified values showed that high PCT was an only risk factor for AESD. A prediction score of ≥3 was indicative of AESD, as determined using the following indexes: HCO3− Conclusion Incidence data and prediction scores for AESD will be useful for future intervention trials for AESD.
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- 2021
5. Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study
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Kousaku Ohno, Rumiko Takayama, Kentarou Shirai, Masami Togawa, Katsumi Higaki, Norika Kubota, Hiroshi Nishida, Chisako Fukuda, Aya Narita, Yukiko Kimura, Kotaro Yuge, Saori Kosugi, Eiji Nanba, Shinji Itamura, Atsue Matsuda, Akiko Tamasaki, Yoko Nishimura, Yusuke Endo, Tomohiro Kumada, Hideo Shigematsu, Anri Hayashi, Kumi Matsushita, Yoshihiro Maegaki, Yoshiaki Saito, Yoriko Watanabe, Akiko Ishihara, and Yoshiyuki Suzuki
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0301 basic medicine ,medicine.medical_specialty ,Pathology ,Ambroxol ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Lysosomal storage disease ,Medicine ,Adverse effect ,Research Articles ,business.industry ,General Neuroscience ,Enzyme replacement therapy ,medicine.disease ,Pharmacological chaperone ,030104 developmental biology ,Tolerability ,Neurology (clinical) ,medicine.symptom ,business ,Myoclonus ,Glucocerebrosidase ,030217 neurology & neurosurgery ,medicine.drug ,Research Article - Abstract
Objective Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease. Specifically, ambroxol, a commonly used expectorant, has been proposed as a candidate pharmacological chaperone. The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic GD. Methods This open-label pilot study included five patients who received high-dose oral ambroxol in combination with enzyme replacement therapy. Safety was assessed by adverse event query, physical examination, electrocardiography, laboratory studies, and drug concentration. Biochemical efficacy was assessed through evidence of glucocerebrosidase activity in the lymphocytes and glucosylsphingosine levels in the cerebrospinal fluid. Neurological efficacy was evaluated using the Unified Myoclonus Rating Scale, Gross Motor Function Measure, Functional Independence Measure, seizure frequency, pupillary light reflex, horizontal saccadic latency, and electrophysiologic studies. Results High-dose oral ambroxol had good safety and tolerability, significantly increased lymphocyte glucocerebrosidase activity, permeated the blood–brain barrier, and decreased glucosylsphingosine levels in the cerebrospinal fluid. Myoclonus, seizures, and pupillary light reflex dysfunction markedly improved in all patients. Relief from myoclonus led to impressive recovery of gross motor function in two patients, allowing them to walk again. Interpretation Pharmacological chaperone therapy with high-dose oral ambroxol shows promise in treating neuronopathic GD, necessitating further clinical trials.
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- 2016
6. Evolution of a symptomatic diffuse developmental venous anomaly with progressive cerebral atrophy in an atypical case of Sturge–Weber syndrome
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Hidenori Sugano, Yuki Shinohara, Yoshihiro Maegaki, Masami Togawa, Takamichi Ito, Koyo Ohno, Yoko Nishimura, Akiko Tamasaki, Yoshiaki Saito, and Shinji Itamura
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Male ,Pathology ,medicine.medical_specialty ,Sturge–Weber syndrome ,Developmental Neuroscience ,Phakomatosis ,Sturge-Weber Syndrome ,Cerebellum ,Cerebellar hemisphere ,medicine ,Humans ,Cerebral Cortex ,Cerebral atrophy ,medicine.diagnostic_test ,business.industry ,Macrocephaly ,Magnetic resonance imaging ,General Medicine ,Anatomy ,medicine.disease ,Cerebral Veins ,Magnetic Resonance Imaging ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Susceptibility weighted imaging ,Neurology (clinical) ,Atrophy ,medicine.symptom ,Hemangioma ,business ,Caput medusae - Abstract
A 2-year-old boy had glaucoma, bilateral facial haemangioma and widespread blue nevi on the trunk and extremities since birth. Dilated medullary veins were detected in the left cerebral periventricular white matter on magnetic resonance imaging (MRI). Macrocephaly and delayed psychomotor development were observed during late infancy, and susceptibility-weighted angiography revealed an extensive developmental venous anomaly with multiple caput medusae throughout bilateral hemispheres, accompanied by periventricular hyperintense alterations on MRI and progressive diffuse atrophy of the cerebral mantle with left-sided predominance. Hypoperfusion in the left cerebral and cerebellar hemisphere was also uncovered. No meningeal haemangioma was observed. This patient may represent a novel subgroup of phakomatosis cases that can be regarded as a variant of Sturge-Weber syndrome.
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- 2015
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7. Early predictors of status epilepticus-associated mortality and morbidity in children
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Yoshihiro, Maegaki, Youichi, Kurozawa, Akiko, Tamasaki, Masami, Togawa, Akiko, Tamura, Masato, Hirao, Akihisa, Nagao, Takayuki, Kouda, Takayoshi, Okada, Hiroshi, Hayashibara, Yuichiro, Harada, Makoto, Urushibara, Chitose, Sugiura, Hitoshi, Sejima, Yuji, Tanaka, Hiroko, Matsuda-Ohtahara, Takeshi, Kasai, Kazuko, Kishi, Syunsaku, Kaji, Mitsuo, Toyoshima, Susumu, Kanzaki, and Kousaku, Ohno
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Male ,medicine.medical_specialty ,Multivariate analysis ,Adolescent ,Acute encephalopathy ,Status epilepticus ,Sepsis ,Status Epilepticus ,Japan ,Developmental Neuroscience ,Internal medicine ,medicine ,Humans ,Prospective Studies ,Child ,Intensive care medicine ,Univariate analysis ,business.industry ,Infant ,General Medicine ,Prognosis ,medicine.disease ,Young age ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Etiology ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Meningitis - Abstract
Background: Early predictors of status epilepticus (SE)-associated mortality and morbidity have not been systematically studied in children, considerably impeding the identification of patients at risk. Objectives: To determine reliable early predictors of SE-associated mortality and morbidity and identify the etiology of SE-associated sequelae in Japanese children. Methods: We conducted a prospective multicenter study of clinical findings and initial laboratory data acquired at SE onset, and assessed outcomes at the last follow-up examination. In-hospital death during the acute period and neurological sequelae were classified as poor outcomes. Results: Of the 201 children who experienced their first SE episode, 16 exhibited poor outcome that was most commonly associated with acute encephalopathy. Univariate analysis revealed that the following were associated with poor outcomes: young age (⩽24months); seizure duration >90min; seizure intractability (failure of the second anticonvulsive drug); biphasic seizures; abnormal blood glucose levels ( 250mg/dL); serum aspartate aminotransferase (AST) ⩾56U/L; and C-reactive protein (CRP) levels >2.00mg/dL. Multivariate analysis revealed that young age, seizure intractability, abnormal blood glucose levels, and elevated AST and CRP levels were statistically significant. Conclusions: Young age and seizure intractability were highly predictive of poor outcomes in pediatric SE. Moreover, abnormal blood glucose levels and elevated AST and CRP levels were predictors that might be closely associated with the etiology, especially acute encephalopathy and severe bacterial infection (sepsis and meningitis) in Japanese children.
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- 2015
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8. Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy
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Koyo Ohno, Ichizo Nishino, Yuko Saito, Tetsuya Okazaki, Yoshihiro Maegaki, Masami Togawa, Chisako Fukuda, Wataru Matsumura, Yoshiaki Saito, and Masayoshi Oguri
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Vomiting ,Neural Conduction ,Physical examination ,Fasciculation ,Nerve conduction velocity ,030218 nuclear medicine & medical imaging ,Upper Extremity ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,medicine ,Humans ,Child ,Muscle, Skeletal ,Ultrasonography ,medicine.diagnostic_test ,business.industry ,Electromyography ,Interossei ,General Medicine ,Anatomy ,Neuromuscular Diseases ,musculoskeletal system ,medicine.disease ,Tendon ,body regions ,medicine.anatomical_structure ,Peripheral neuropathy ,Lower Extremity ,Pediatrics, Perinatology and Child Health ,Reflex ,Female ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Reinnervation - Abstract
A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0.2-0.4s, concomitant with muscle discharges on surface EMG in the right foot muscles. These findings were compatible with contraction fasciculation in muscles under chronic reinnervation. Nerve and muscle biopsies were suggestive of chronic motor, sensory, and autonomic neuropathy. This is the first case of pediatric peripheral neuropathy where muscle fasciculation was noninvasively identified by simultaneous surface EMG and ultrasonography.
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- 2016
9. A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
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Akira Oka, Megumu Ogawa, Terumi Murakami, Masami Togawa, Ikuya Nonaka, Kevin P. Campbell, Takehiko Inoue, Ichizo Nishino, Yukiko K. Hayashi, Satoru Noguchi, and Kousaku Ohno
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Genetic Markers ,Male ,Pathology ,medicine.medical_specialty ,Glycosylation ,Biopsy ,Developmental Disabilities ,DNA Mutational Analysis ,medicine.disease_cause ,Mannosyltransferases ,Muscular Dystrophies ,Article ,Developmental Neuroscience ,Brain mri ,medicine ,Humans ,Genetic Predisposition to Disease ,Dystroglycans ,Muscle, Skeletal ,Psychomotor learning ,Mutation ,business.industry ,fungi ,Brain ,Skeletal muscle ,General Medicine ,Anatomy ,medicine.disease ,Magnetic Resonance Imaging ,Phenotype ,medicine.anatomical_structure ,Muscular Dystrophies, Limb-Girdle ,Child, Preschool ,Normal brain MRI ,Pediatrics, Perinatology and Child Health ,Congenital muscular dystrophy ,Neurology (clinical) ,business ,Limb-girdle muscular dystrophy - Abstract
We report a patient harboring a novel homozygous mutation of c.604T > G (p.F202V) in POMT2 . He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (α-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with α-dystroglycanopathy. Presence of small amounts of partly glycosylated α-DG may have a role in reducing the clinical symptoms of α-dystroglycanopathy.
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- 2009
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10. Basal ganglia germinoma: Diagnostic value of MR spectroscopy and 11C-methionine positron emission tomography
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Masami Togawa, Shinji Kondo, Hideki Kamitani, Yuji Fujii, Michio Senda, Yoshiaki Saito, Toshihide Ogawa, Shinya Fujii, Yoshihiro Maegaki, Yasushi Horie, and Kousaku Ohno
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In vivo magnetic resonance spectroscopy ,Magnetic Resonance Spectroscopy ,Basal Ganglia ,Lesion ,Methionine ,Neuroimaging ,Basal ganglia ,Image Processing, Computer-Assisted ,medicine ,Humans ,Carbon Radioisotopes ,Child ,Brain Mapping ,Germinoma ,medicine.diagnostic_test ,Brain Neoplasms ,business.industry ,Lateral Lenticulostriate Artery ,Magnetic resonance imaging ,medicine.disease ,Neurology ,Positron emission tomography ,Positron-Emission Tomography ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Nuclear medicine - Abstract
We herein report a 12-year-old girl with a basal ganglia germinoma who presented with right-sided hemiparesis after a minor head trauma. Magnetic resonance (MR) imaging revealed a minimally enhanced lesion involving the left putamen, thalamus, and corona radiata. The lesion showed low-signal intensity on T1-, and high intensity on T2- and diffusion-weighted imaging. The MR signal in the adjacent globus pallidum was also low on T2-weighted imaging. MR spectroscopy on the lesion showed a large lactate/lipid/macromolecule peak with a decreased NAA/Cr ratio, but no increase in the Cho/Cr ratio. However, posttraumatic infarction at the territory of lateral lenticulostriate artery was ruled out 1 month later. This was based on progression of the hemiparesis and neuroimaging results, including an increased Cho/Cr ratio and weak uptake on (11)C-methionine positron emission tomography of the basal ganglia lesion. Stereotaxic brain biopsy confirmed the diagnosis of germinoma.
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- 2008
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11. Acute encephalitis with refractory, repetitive partial seizures: Case reports of this unusual post-encephalitic epilepsy
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Takehiko Inoue, Riina Okamoto, Yukitoshi Takahashi, Kaeko Ogura, Kousaku Ohno, Yukiko Nanba, Yoshiaki Saito, Masami Togawa, and Yoshihiro Maegaki
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Male ,Fever ,medicine.drug_class ,Midazolam ,Anti-Inflammatory Agents ,Drug Resistance ,Cell Count ,Unconsciousness ,Status epilepticus ,Electroencephalography ,Epileptogenesis ,Epilepsy ,Status Epilepticus ,Developmental Neuroscience ,medicine ,Humans ,Thiopental ,Child ,Cerebrospinal Fluid ,Subclinical infection ,medicine.diagnostic_test ,business.industry ,Brain ,Delirium ,Magnetic resonance imaging ,Pneumonia ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Treatment Outcome ,Barbiturate ,Anesthesia ,Acute Disease ,Pediatrics, Perinatology and Child Health ,Encephalitis ,Anticonvulsants ,Female ,Epilepsies, Partial ,Neurology (clinical) ,medicine.symptom ,Tomography, X-Ray Computed ,business - Abstract
We report on three acute encephalitis patients with refractory, repetitive partial seizures (AERRPS). All three suffered acute febrile episodes associated with status epilepticus, which necessitated high-dose barbiturate therapy under artificial ventilation for several weeks. Electroencephalography (EEG) revealed a predominance of diffuse epileptiform discharges initially, subsequently developing into periodic bursts of these discharges. Reduction of the barbiturate dosage resulted in clinical and subclinical partial seizures appearing repetitively in clusters. Prolonged fever persisted for 2-3 months, even several weeks after normalization of cell counts in the cerebrospinal fluid. The EEG showed an improvement after resolution of this fever, and seizures became less frequent, although still intractable. Oral administration of high-dose barbiturate and benzodiazepines were partially effective during the acute phase, and a barbiturate dependency, lasting for years, was noted in one patient. Steroid administration was effective in stopping the febrile episodes in one patient, with concurrent improvement in seizure control. Magnetic resonance imaging showed enhancement of bitemporal cortical areas in one patient, and high signal intensity on T2 weighted image in the bilateral claustrum in another patient. Diffuse cortical atrophy appeared within two months after the onset of encephalitis in all patients. The evolution of the seizures and EEG findings suggested a high degree of cortical excitability in AERRPS. In this report, we propose a tentative therapeutic regimen for seizure control in this condition. We also hypothesize that a prolonged inflammatory process exists in the cerebral cortex with AERRPS, and may be pivotal in the epileptogenesis.
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- 2007
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12. Effect of Serotonin 1A Agonists and Selective Serotonin Reuptake Inhibitors on Behavioral and Nighttime Respiratory Symptoms in Rett Syndrome
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Koyo Ohno, Yoshihiro Maegaki, Yoshiaki Saito, Misato Fujiyama, Eriko Matsuda, Masami Togawa, Riyo Ueda, and Takanori Ohmae
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0301 basic medicine ,Central apnea ,Serotonin reuptake inhibitor ,Rett syndrome ,Polysomnography ,Serotonergic ,03 medical and health sciences ,Sleep Apnea Syndromes ,0302 clinical medicine ,Developmental Neuroscience ,Rett Syndrome ,medicine ,Humans ,Child ,medicine.diagnostic_test ,business.industry ,Respiration ,Sleep apnea ,Serotonin 5-HT1 Receptor Agonists ,medicine.disease ,Stereotypy (non-human) ,030104 developmental biology ,Neurology ,Anesthesia ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Serotonin ,Sleep ,business ,Selective Serotonin Reuptake Inhibitors ,030217 neurology & neurosurgery - Abstract
Background Rett syndrome is characterized by psychomotor regression during early childhood, autistic-like behaviors, and aberrant breathing patterns. Dysfunction of the serotonergic system has been postulated to play a role in the pathophysiology of these symptoms. Patient Description We present an 11-year-old girl with Rett syndrome who exhibited marked respiratory symptoms, including frequent apneic events during sleep. She had been treated for these respiratory symptoms using noninvasive positive pressure ventilation since age six years. Treatment with serotonin 1A receptor agonist was initiated at age eight years, whereas treatment using a selective serotonin reuptake inhibitor began at age nine years. Noninvasive positive pressure ventilation therapy was effective in reducing symptoms of sleep apnea, and administration of serotonergic agents resulted in amelioration of sleep apneic events even in the absence of noninvasive positive pressure ventilation. In addition, improvements in hand stereotypy and social skills were observed after initiation of serotonin-based therapy. Discussion The respiratory difficulties our patient experienced during non-rapid eye movement (REM) sleep are characteristic of post-sigh central apnea. Exaggerated activity of expiratory neurons during such apneic events has been observed in mouse models of Rett syndrome. We suggest that prescribed serotonergic agents might serve to inhibit such activity, attenuating the imbalance between inspiratory and expiratory neurons. These agents might also be useful in the treatment of autistic-like behaviors caused by impaired serotonergic transmission in the brain.
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- 2016
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13. MECP2 duplication syndrome in both genders
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Masahiro Ito, Midori Sugawara, Yasuhiro Arai, Shino Shimada, Nobuhiko Okamoto, Makiko Osawa, Keiko Shimojima, Yoshihiro Maegaki, Masami Togawa, Toshiyuki Yamamoto, and Ken Momosaki
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Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,Methyl-CpG-Binding Protein 2 ,MECP2 duplication syndrome ,Rett syndrome ,Locus (genetics) ,Biology ,X-inactivation ,MECP2 ,Epilepsy ,Young Adult ,Developmental Neuroscience ,X Chromosome Inactivation ,Gene Duplication ,Intellectual Disability ,mental disorders ,Gene duplication ,medicine ,Humans ,Genetics ,Brain ,Chromosome Mapping ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,nervous system diseases ,Xq28 ,Phenotype ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Mental Retardation, X-Linked ,Female ,Neurology (clinical) - Abstract
Background Duplications involving the methyl-CpG-binding protein 2 gene ( MECP2 ) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental retardation, recurrent infections, and epilepsy. This combination of features is recognized as MECP2 duplication syndrome. Methods Genomic copy number was investigated for patients with unexplained mental retardation, and phenotypic features of the patients having interstitial duplications including MECP2 were analyzed. Results Three male and one female patients with MECP2 duplication were identified. The phenotypic features of all the four patients were compatible with MECP2 duplication syndrome. The X-chromosome inactivation (XCI) pattern was analyzed in the female patient, identifying a skewed XCI that activated the X-chromosome containing the MECP2 duplication. Her mother possessed the same MECP2 duplication and a random XCI pattern but exhibited no phenotypic features, indicating a nonsymptomatic carrier. The brain magnetic resonance imaging revealed periventricular cystic lesions in all four patients, including the female patient. Conclusion This study suggested clinical implications of the MECP2 duplication syndrome not only in the male but also in female patients with unexplained mental retardation.
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- 2012
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