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BACKGROUND: Adenovirus is a major pathogen causing febrile illness among children. It may also cause acute encephalitis/encephalopathy. This study aimed to elucidate the clinical features of adenovirus-associated encephalitis/encephalopathy (AdVE) among children in Japan. METHODS: A nationwide survey of children with AdVE was conducted. An initial survey was distributed among pediatricians to obtain information about children with AdVE treated between January 2014 and March 2019. A second survey was used to obtain the clinical information of children with AdVE from hospitals that responded to the initial survey and those identified from a literature search of the reported cases. We collected demographic data and information about symptoms of infection, neurological symptoms, laboratory parameters, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. RESULTS: Clinical information was available for 23 children with a median age of 39 months. Two had preexisting neurological disorders and six had a history of febrile seizures. The outcome was good in 15 patients and poor in eight patients. Serum lactate dehydrogenase, glucose, and ammonia levels were higher among children with a poor outcome compared to those with a good outcome. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion was the most common type (n = 8), followed by acute encephalopathy with biphasic seizures and late reduced diffusion (n = 7). CONCLUSION: A prior history of febrile seizures was frequent in children with AdVE. Several different subtypes of acute encephalopathy were seen in children with AdVE, and the outcome was poor in those with acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome. Elevated lactate dehydrogenase, glucose, and ammonia levels on admission were found to correlate with a poor outcome.
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Encefalopatias , Encefalite Viral , Encefalite , Convulsões Febris , Criança , Humanos , Lactente , Pré-Escolar , Japão/epidemiologia , Amônia , Glucose 1-Desidrogenase , Encefalite/complicações , Encefalite/diagnóstico , Adenoviridae , LactatosRESUMO
The frequency of split cord malformation (SCM) is approximately 1 in 5000 births; however, patients are rarely diagnosed with SCM in the neonatal period. Moreover, there have been no reports of SCM with hypoplasia of the lower extremities at birth. A 3-day-old girl was transferred to our hospital for a thorough examination of hypoplasia of the left lower extremity and lumbosacral abnormalities detected after birth. The spinal magnetic resonance imaging (MRI) revealed a split spinal cord in a single dural tube. Based on the MRI findings, the patient was diagnosed with SCM type II. Following discussions with the parents, pediatricians, neurosurgeons, psychologists, and social workers, we decided to perform untethering to prevent further neurological impairment after achieving a sufficient body weight. The patient was discharged on day 25 of life. Early diagnosis and intervention may improve the neurological prognosis in terms of motor function, bladder and bowel function, and superficial sensation; thus, clinicians should report infrequent findings that may lead to SCM diagnosis. SCM should be differentiated in patients with left-right differences in the appearance of the lower extremity, particularly in those with lumbosacral abnormalities.
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Defeitos do Tubo Neural , Medula Espinal , Recém-Nascido , Feminino , Humanos , Medula Espinal/anormalidades , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/diagnóstico , Coluna Vertebral , Imageamento por Ressonância Magnética , Extremidade InferiorRESUMO
We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hydrocephalus, spondyloepimetaphyseal dysplasia (SEMD), and thrombocytopenia which is comparable to that of an infant reported by Faye-Peterson et al., whereas patients 2 and 3 showed Camera-Genevieve type SMED with intellectual/developmental disability which is currently known as the sole disease name for NANS-CDG. Molecular studies revealed a maternally inherited likely pathogenic c.207del:p.(Arg69Serfs*57) variant and a paternally derived likely pathogenic c.979_981dup:p.(Ile327dup) variant in patient 1, a homozygous likely pathogenic c.979_981dup:p.(Ile327dup) variant caused by maternal segmental isodisomy involving NANS in patient 2, and a paternally inherited pathogenic c.133-12T>A variant leading to aberrant splicing and a maternally inherited likely pathogenic c.607T>C:p.(Tyr203His) variant in patient 3 (reference mRNA: NM_018946.4). The results, together with previously reported data, imply that (1) NANS plays an important role in postnatal growth and fetal brain development; (2) SMED is recognizable at birth and shows remarkable postnatal evolution; (3) NANS-CDG is associated with low-normal serum sialic acid, obviously elevated urine N-acetylmannosamine, and normal N- and O-glycosylation of serum proteins; and (4) NANS-CDG is divided into Camera-Genevieve type and more severe Faye-Peterson type.
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Defeitos Congênitos da Glicosilação , Ácido N-Acetilneuramínico , Defeitos Congênitos da Glicosilação/genética , Glicosilação , Humanos , Lactente , Recém-Nascido , Japão , Ligases , RNA MensageiroRESUMO
AMOTL1 is a member of the Motin protein family and localizes to tight junctions and is involved in cell polarity and paracellular permeability. Pathological variants have been reported in three patients from two separate families in recent years. The clinical spectrum includes cleft lip and palate along with a high incidence of congenital cardiac disease and ear malformations. We report a case of AMOTL1 pathogenic variant in a 11-year-old male patient with nonspecific and chronic liver dysfunction accompanied by persistently elevated liver enzymes since early infancy. Liver biopsy at 8 years of age revealed a mildly dilated central vein and sinusoid with no specific etiology. Liver dysfunction is not a known clinical feature of AMOTL1 malfunction. However, given that the protein is known to be involved in angiogenesis, it may be inferred that abnormalities in this process may lead to liver dysfunction. This is the first report of liver dysfunction identified in a patient with AMOTL1 malfunction, which will shed light on other putative functions of the protein.
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Fenda Labial , Fissura Palatina , Hepatopatias , Angiomotinas , Criança , Fenda Labial/complicações , Fissura Palatina/complicações , Humanos , Hepatopatias/genética , Masculino , Proteínas de Membrana/metabolismoRESUMO
A 2-day-old neonate presented with seizures, multiple intracranial hemorrhages, and bilateral congenital cataracts. Targeted next-generation sequencing of the collagen type IV alpha 1 chain (COL4A1) gene revealed a heterozygous de novo missense variant (NM_001845.6:c.2291G>A/p.Gly764Asp). This missense variant adds to the compendium of COL4A1 variants and is associated with a COL4A1-related disorder.
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OBJECTIVE: We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC). METHODS: The clinical data of 11 children with clinically diagnosed TSC associated with AE and 109 children with clinically diagnosed TSC alone aged 4 years or older were collected from 13 hospitals. RESULTS: Of the 11 children with AE, 5 had histories of febrile seizures (FS), and all had histories of febrile status epilepticus (FSE). AE developed within 24 h after fever onset in all children with seizures lasting 30 min or longer. All children developed coma after seizure cessation. Head magnetic resonance imaging (MRI) revealed widespread abnormalities in the cerebral cortex, subcortical white matter, corpus callosum, basal ganglia, and thalamus. One child died; seven had severe neurological sequelae; and the other three, mild sequelae. Logistic regression analysis revealed that a history of FSE was correlated with the development of AE. SIGNIFICANCE: AE in children with TSC was characterized by sudden onset after fever, followed by coma, widespread brain edema evident on MRI, and poor outcomes. A history of FSE was a risk factor for the development of AE.
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Encefalopatias , Convulsões Febris , Estado Epiléptico , Esclerose Tuberosa , Encefalopatias/etiologia , Criança , Humanos , Lactente , Imageamento por Ressonância Magnética , Convulsões , Convulsões Febris/etiologia , Esclerose Tuberosa/complicaçõesRESUMO
9p duplication syndrome is a common congenital anomaly syndrome with specific facial features, mental and developmental retardations, and characteristic fingers. Pure 9p duplication without other chromosomal structural variations is very rare. It has recently been reported that cases with partial 9p duplication including SMARCA2 have phenotypes overlapping with Coffin-Siris syndrome (CSS). Herein, we present a family with pure 9p duplication syndrome in which phenotypes partially characteristic of CSS were identified. In one of two siblings, X-ray examination revealed hypoplasia of the distal phalanges of the fifth fingers, aplasia of the middle phalanges of the fifth fingers, and aplasia of the distal phalanges of the second to fifth toes. In pure 9p duplication together with our one affected case, 9 out of 14 cases (64.3%), excluding cases whose clinical data were unavailable, presented the absence or hypoplasia of the middle phalanges of fingers or toes. Interestingly, there are no reports on CSS with aplasia or hypoplasia of the middle phalanx. Therefore, this family might suggest that the aplasia or hypoplasia of the middle phalanges of the fifth fingers or toes is a distinct finding that can distinguish between pure 9p duplication and CSS.
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Anormalidades Múltiplas/genética , Face/anormalidades , Falanges dos Dedos da Mão/anormalidades , Dedos/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Dedos do Pé/anormalidades , Fatores de Transcrição/genética , Trissomia/genética , Anormalidades Múltiplas/diagnóstico por imagem , Cromossomos Humanos Par 9/genética , Face/diagnóstico por imagem , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Humanos , Recém-Nascido , Deficiência Intelectual/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Micrognatismo/diagnóstico por imagem , Pescoço/diagnóstico por imagem , Fenótipo , Gravidez , IrmãosRESUMO
Quantitative magnetic resonance imaging (MRI) with multislice, multi-echo, and multi-delay acquisition enables simultaneous quantification of R1 and R2 relaxation rates, proton density, and the B1 field in a single acquisition, and requires only about 6 minutes for full-head coverage. Using dedicated SyMRI software, radiologists can generate any contrast-weighted image by manipulating the acquisition parameters, including repetition time, echo time, and inversion time. Moreover, automatic brain tissue segmentation, volumetry, and myelin measurement can also be performed. Using the SyMRI approach, a shorter scan time, an objective examination, and personalized MR imaging parameters can be obtained in daily clinical pediatric imaging. Here we summarize and review the use of SyMRI in imaging of the pediatric brain, including the basic principles of MR quantification along with its features, clinical applications, and limitations.
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Encéfalo/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética , Encéfalo/anatomia & histologia , Encéfalo/patologia , Encefalopatias/diagnóstico por imagem , Encefalopatias/patologia , Criança , Humanos , Bainha de Mielina/patologia , Razão Sinal-Ruído , SoftwareRESUMO
BACKGROUND: Norovirus is a major pathogen of gastroenteritis and is known to cause encephalitis/encephalopathy. The aim of this national survey was to clarify the clinical features of norovirus-associated encephalitis/encephalopathy (NoVE) among children in Japan. METHODS: A nationwide survey of children with NoVE was conducted using a structured research form. The initial survey asked pediatricians about children with NoVE treated between January 2011 and March 2016. The second survey obtained patient information from two sources: hospitals that responded to the initial survey and those identified as having treated cases from a literature search. RESULTS: Clinical information was available for 29 children. Their median age was 2â¯y 8â¯m. The outcome was good in 13 patients and poor in 15. The interval between the onset of gastrointestinal symptoms and that of encephalitis/encephalopathy was significantly shorter in those with a poor outcome. At the onset of an elevated serum creatinine level and an abnormal blood glucose level were correlated with a poor outcome. Regarding the subtypes of encephalitis/encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome were frequent. CONCLUSION: The outcome of children with NoVE was poor. Early onset of neurological symptoms, an elevated serum creatinine level, and an abnormal blood glucose level were associated with a poor outcome. No effective treatment was identified and this should be the subject of future studies.
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Infecções por Caliciviridae/complicações , Infecções por Caliciviridae/epidemiologia , Encefalite Viral/epidemiologia , Encefalite Viral/etiologia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/virologia , Infecções por Caliciviridae/diagnóstico por imagem , Criança , Pré-Escolar , Encefalite Viral/diagnóstico por imagem , Feminino , Humanos , Lactente , Japão/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: We compared knowledge about and attitudes toward epilepsy and the issuing of driver's licenses to people with epilepsy among non-medical students before and after media controversies. METHODS: The survey was performed in 2012 and 2014 using a structured questionnaire. Participants were non-medical students who attended a lecture on neurological diseases in children. The proportion of positive answers to each question in 2012 was compared with that in 2014. In addition, questions regarding attitudes toward driver's licenses were compared according to knowledge about car accidents linked to people with epilepsy. RESULTS: More participants were familiar with epilepsy and had a favorable attitude toward epilepsy in 2014 than in 2012. In contrast, the proportion of participants who knew of car accidents linked to people with epilepsy was reduced in 2014 compared with 2012. The proportion of participants who did not think that severe punishment should be given to people with epilepsy if they caused a car accident decreased in 2014 among those without knowledge of car accidents. CONCLUSIONS: Familiarity with and attitudes toward epilepsy were improved in 2014, whereas the decrease in proportion of positive answers on punishment among participants unfamiliar with car accidents suggests a latent worsening of public attitudes.
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Atitude Frente a Saúde , Condução de Veículo , Epilepsia , Licenciamento , Acidentes de Trânsito , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Japão , Masculino , Estudantes , Inquéritos e Questionários , Adulto JovemRESUMO
The outcome of mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is favorable whether or not specific treatment is performed. We report a patient with MERS treated with methylprednisolone, complicated by gastric perforation followed by critical illness polyneuropathy. The patient was a 14-year-old male with mildly impaired consciousness and hyponatremia who was treated with methylprednisolone pulse therapy. High fever appeared after methylprednisolone pulse therapy and free air was recognized on an abdomen roentgenogram. Gastric perforation was recognized on emergent endoscopic surgery and omental implantation repair was performed. His consciousness was fully recovered after surgery, whereas he was noted to have motor and sensory impairment of the lower extremities and vesico-rectal disturbance. Nerve conduction studies revealed decreased compound muscle action potentials with preserved motor conduction velocity and decreased sensory nerve action potentials. He was diagnosed as having critical illness polyneuropathy, and bedside physical rehabilitation was initiated. His neurological symptoms resolved within 6months. Our patient highlighted possible serious adverse events associated with steroid treatment for children with MERS.
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Encefalite/tratamento farmacológico , Metilprednisolona/efeitos adversos , Polineuropatias/etiologia , Esteroides/efeitos adversos , Ruptura Gástrica/etiologia , Adolescente , Encéfalo/diagnóstico por imagem , Encefalite/diagnóstico por imagem , Encefalite/fisiopatologia , Encefalite/reabilitação , Humanos , Masculino , Metilprednisolona/uso terapêutico , Polineuropatias/fisiopatologia , Polineuropatias/reabilitação , Esteroides/uso terapêutico , Estômago/diagnóstico por imagem , Estômago/cirurgia , Ruptura Gástrica/fisiopatologia , Ruptura Gástrica/reabilitação , Ruptura Gástrica/cirurgiaRESUMO
To evaluate changes in the attitudes of nonmedical university students toward epilepsy in 2015, the present study compared the results of questionnaire surveys from four different time periods: before media coverage of epilepsy-related car accidents (2008-2010), during a period of abundant media coverage (2011-2012), after media coverage (2013-2014), and after novel media coverage (2015). The nonmedical students that completed the questionnaire were divided into four groups: 2008-2010, 2011-2012, 2013-2014, and 2015. The rates of students that had read or heard about epilepsy decreased significantly in 2015 compared with those in 2013-2014. Attitudes toward epilepsy had also worsened in 2015. The rates of students that would not oppose their children playing with or attending school alongside children with epilepsy and those who thought that people with epilepsy should be hired in the same way as other people had decreased significantly in 2015 compared with those in 2011-2012 and 2013-2014. Analyses of information-seeking behavior on the Internet showed that the increase in Google search volume and Wikipedia page views was much less in 2015 than in 2011 and 2012. These findings suggest that familiarity with epilepsy had worsened even after media coverage of novel epilepsy-related car accidents. This suggests that media coverage in 2015 was less influential than that in 2011 and 2012.
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Acidentes de Trânsito , Epilepsia , Conhecimentos, Atitudes e Prática em Saúde , Internet , Meios de Comunicação de Massa , Feminino , Humanos , Comportamento de Busca de Informação , Masculino , Reconhecimento Psicológico , Estudantes , Inquéritos e Questionários , Pensamento , Adulto JovemRESUMO
We describe a girl with Down syndrome who experienced focal seizures and epileptic spasms during infancy. The patient was diagnosed as having trisomy 21 during the neonatal period. She had focal seizures at five months of age, which were controlled with phenobarbital. However, epileptic spasms appeared at seven months of age in association with hypsarrhythmia. Upon treatment with adrenocorticotropic hormone, her epileptic spasms disappeared. Her younger brother also had focal seizures at five months of age. His development and interictal electroencephalogram were normal. The patient's father had had infantile epilepsy and paroxysmal kinesigenic dyskinesia. We performed a mutation analysis of the PRRT2 gene and found a c.841T>C mutation in the present patient, her father, and in her younger brother. We hypothesized that the focal seizures in our patient were caused by the PRRT2 mutation, whereas the epileptic spasms were attributable to trisomy 21.
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Síndrome de Down/genética , Síndrome de Down/fisiopatologia , Epilepsia Neonatal Benigna/genética , Epilepsia Neonatal Benigna/fisiopatologia , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Anticonvulsivantes/uso terapêutico , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Análise Mutacional de DNA , Síndrome de Down/tratamento farmacológico , Eletroencefalografia , Epilepsia Neonatal Benigna/tratamento farmacológico , Família , Feminino , Humanos , Lactente , Masculino , Linhagem , Convulsões/tratamento farmacológico , Convulsões/genética , Convulsões/fisiopatologiaRESUMO
Although seizures during infancy in patients with tuberous sclerosis complex are common, seizures in neonates are infrequent. Here, we report the clinical course and electroencephalography (EEG) findings of a neonate with tuberous sclerosis complex associated with clinically silent seizures. The patient was a girl in whom cardiac tumors were detected on fetal ultrasonography. Brain magnetic resonance imaging during the neonatal period showed subependymal and cortical tubers. Routine EEG indicated unexpected ictal changes with no noticeable clinical symptoms. Ictal EEG was associated with a subtle increase in heart rate and a brief increase in chin electromyogram. These changes were difficult to identify clinically. The patient later developed focal seizures and epileptic spasms and had severe psychomotor delay. The present case suggests the occurrence of clinically silent seizures before the appearance of epileptic spasms in infants with tuberous sclerosis, and that EEG is an option for neonates with a prenatal diagnosis.
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Encéfalo/patologia , Convulsões/etiologia , Esclerose Tuberosa/complicações , Encéfalo/fisiopatologia , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Convulsões/diagnóstico , Esclerose Tuberosa/diagnósticoRESUMO
OBJECTIVE: We retrospectively reviewed the outcomes of children with focal epilepsy treated with oral high-dose phenobarbital. METHODS: We reviewed data on children (aged<15 years) with focal seizures treated with high-dose phenobarbital (>5 mg/kg/day to maintain a target serum level >40 µg/mL) for at least 6 months. Seizure frequency was evaluated after phenobarbital titration, and 1 and 2 years after high-dose phenobarbital treatment commenced. Treatment was judged effective when seizure frequencies fell by ⩾75%. RESULTS: Seven boys and eight girls were treated. The median age at commencement of high-dose phenobarbital therapy was 30 months. The maximal serum phenobarbital level ranged from 36.5 to 62.9 µg/mL. High-dose PB was effective in seven. In two patients, treatment was transiently effective, but seizure frequency later returned to the baseline. High-dose PB was ineffective in six. No significant association between effectiveness and any clinical variable was evident. Drowsiness was recorded in nine patients, but no patient developed a behavioral problem or hypersensitivity. CONCLUSION: Oral high-dose phenobarbital was effective in 7 of 15 patients with focal epilepsy and well tolerated. High-dose PB may be useful when surgical treatment is difficult.
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Anticonvulsivantes/uso terapêutico , Fenobarbital/uso terapêutico , Convulsões/tratamento farmacológico , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fenobarbital/efeitos adversos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Childhood thrombocytopenias include immune thrombocytopenic purpura (ITP) and inherited thrombocytopenia; the former is caused by autoantibodies to platelets, whereas the latter can be distinguished by platelet size and underlying genetic mutations. Due to limited methods for the definite diagnosis of ITP, genetic and clinical parameters are required for diagnosing inherited thrombocytopenias with small or normal-sized platelets. PROCEDURE: In total, 32 Japanese patients with thrombocytopenia with small or normal-sized platelets from 29 families were enrolled. All the patients were under 20 years of age, with family histories of early-onset thrombocytopenia and/or poor response to conventional therapies for ITP. Genotypes and clinical parameters were retrospectively evaluated according to the disease type. RESULTS: Twelve cases of inherited thrombocytopenia were observed. We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2. All 12 carried germline mutations, three of which were de novo. Furthermore, we observed significantly elevated serum thrombopoietin (TPO) levels and dysplasia of megakaryocytes in patients carrying the RUNX1 and ANKRD26 mutations. CONCLUSIONS: Genetic analyses and detection of TPO levels and dysmegakaryopoiesis were clinically useful for screening patients with inherited thrombocytopenias, irrespective of the family history. We hypothesize that the WASP, RUNX1, and ANKRD26 genes are important for normal TPO signaling and the network underlying thrombopoiesis.
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Plaquetas , Tamanho Celular , Subunidade alfa 2 de Fator de Ligação ao Core , Doenças Genéticas Inatas , Proteínas Nucleares , Trombocitopenia , Trombopoetina , Proteína da Síndrome de Wiskott-Aldrich , Adolescente , Plaquetas/metabolismo , Plaquetas/patologia , Criança , Pré-Escolar , Deleção Cromossômica , Subunidade alfa 2 de Fator de Ligação ao Core/sangue , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Família , Feminino , Doenças Genéticas Inatas/sangue , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/patologia , Humanos , Lactente , Recém-Nascido , Peptídeos e Proteínas de Sinalização Intercelular , Masculino , Proteínas Nucleares/sangue , Proteínas Nucleares/genética , Transdução de Sinais/genética , Trombocitopenia/sangue , Trombocitopenia/genética , Trombocitopenia/patologia , Trombopoese/genética , Trombopoetina/sangue , Trombopoetina/genética , Proteína da Síndrome de Wiskott-Aldrich/sangue , Proteína da Síndrome de Wiskott-Aldrich/genéticaRESUMO
To evaluate changes in the attitudes of nonmedical students about epilepsy, the present study compared the results of a questionnaire that was completed in three different time periods: before media coverage of car accidents associated with epilepsy, during a period of abundant media coverage about epilepsy-related accidents, and after media coverage of epilepsy-related accidents. The nonmedical students who completed the questionnaire were divided into three groups: Years 08-10 (preaccident era), Years 11-12 (media coverage era), and Years 13-14 (postmedia coverage era). The rates of students who had read or heard about epilepsy and of students who did not think that epilepsy was a mental disorder increased annually throughout the study period. There was an improvement in attitudes about epilepsy after the media coverage era, and this change was not altered even after a decrease in the media coverage of epilepsy-related car accidents. Additionally, the rate of positive answers did not differ between Years 11-12 and Years 13-14. These findings demonstrate that the familiarity with and improved attitudes about epilepsy were sustained even after the media coverage of car accidents involving persons with epilepsy had decreased.
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Acidentes de Trânsito/estatística & dados numéricos , Epilepsia/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Meios de Comunicação de Massa , Estudantes de Medicina/psicologia , Adolescente , Feminino , Humanos , Masculino , Opinião Pública , Inquéritos e Questionários , Adulto JovemRESUMO
Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.