RESUMO
Epileptic spasms without hypsarrhythmia occur when patients do not display hypsarrhythmia on electroencephalogram (EEG) at the onset and throughout the clinical course. We report three patients of epileptic spasms in patients with early onset, all of whom experienced other types of seizures.We detail three patients (two boys and one girl) of epileptic spasms without hypsarrhythmia, occurring between 1 and 3 months of age, with no abnormalities detected on neurometabolic analysis and brain magnetic resonance imaging. Long-term video-EEG monitoring revealed epileptic spasms with focal onset seizures in two patients, and epileptic spasms followed by generalized tonic-clonic seizures in one patient. Hypsarrhythmia was never observed in repeated EEG examinations. Two patients achieved seizure freedom and improved development through treatment with topiramate alone or in combination with valproate, without requiring hormonal therapies or vigabatrin. The remaining patient achieved seizure freedom following administration of antiseizure medications, including topiramate, after a trial of adrenocorticotropic hormone therapy.We report the cases of three patients with early onset epileptic spasms without hypsarrhythmia. All patients achieved seizure freedom after topiramate treatment. Topiramate may be considered as a relatively effective antiseizure medication for early onset epileptic spasms without hypsarrhythmia.
Assuntos
Anticonvulsivantes , Eletroencefalografia , Espasmos Infantis , Humanos , Masculino , Feminino , Lactente , Anticonvulsivantes/uso terapêutico , Anticonvulsivantes/administração & dosagem , Espasmos Infantis/tratamento farmacológico , Espasmos Infantis/fisiopatologia , Topiramato/administração & dosagem , Topiramato/uso terapêutico , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported. CASE PRESENTATION: A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected. CONCLUSIONS: We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.
Assuntos
Anormalidades Múltiplas , Fácies , Transtornos da Alimentação e da Ingestão de Alimentos , Transtornos do Neurodesenvolvimento , Humanos , Feminino , Adolescente , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Proteínas Repressoras/genéticaRESUMO
BACKGROUND: Self-efficacy plays an important role in enhancing the teaching capabilities of attending physicians (APs). The clinical ladder (CL) is an educational approach developed in the field of nursing education that increases difficulty in an incremental manner. However, no previous study has confirmed the effectiveness of CL in medical education. Therefore, this study aimed to examine the effect of clinical clerkship integrated with clinical ladder (CC-CL) on the self-efficacy of APs. METHODS: Sixth-year medical students participated in CC-CL for 6 months starting from April 2023, and the changes in the self-efficacy of APs were retrospectively evaluated. The students were trained by the APs concurrently, and the achievement levels of each student were shared. The primary outcome measure was the physician teaching self-efficacy questionnaire (PTSQ) score. The PTSQ scores before and after CC-CL were analyzed using the Wilcoxon matched-pair signed-rank test. RESULTS: Fifteen APs from the Department of Pediatric and Child Neurology were included in this study. No significant difference was observed in the total PTSQ scores of the APs before and after CC-CL. However, a significant increase was observed in the PTSQ score of APs who participated for at least 2 h per week over a period of more than 3 months (n = 8) after CC-CL (p = 0.022). Furthermore, APs who had received their pediatrician certification < 10 years ago (n = 8) showed a significant increase in the total PTSQ score after CC-CL (p = 0.022). CONCLUSIONS: CC-CL may play an important role in cultivating the self-efficacy of less experienced APs. Further comparative studies must be conducted in the future to validate the findings of this study.
Assuntos
Estágio Clínico , Médicos , Estudantes de Medicina , Humanos , Criança , Mobilidade Ocupacional , Estudos Retrospectivos , Autoeficácia , EnsinoRESUMO
INTRODUCTION: Infantile epileptic spasms syndrome (IESS) is characterized by epileptic spasms, regardless of hypsarrhythmia on electroencephalogram or neurodevelopmental delay. In Japan, pyridoxal 5'-phosphate (PLP) is often used as the first-line treatment for IESS because it is effective in a certain number of patients. Although several studies have reported serious adverse events following PLP treatment, no study has investigated the risk factors for such occurrences. OBJECTIVE: To investigate adverse events associated with PLP therapy for the treatment of IESS and to identify the associated risk factors. MATERIALS AND METHODS: We retrospectively evaluated adverse events in 59 patients with IESS at Tottori University Hospital between January 1995 and September 2022. We subsequently collected and analyzed their clinical data and analyzed the risk factors associated with each adverse event. The cutoff values and relative risk (RR) were analyzed for items with significant associations with adverse events. RESULTS: Twenty-seven (51.9%) participants experienced adverse events, including vomiting in 16 participants (59.3%), elevated liver enzyme levels in 15 participants (55.6%), and rhabdomyolysis in two participants (3.4%). No significant differences were observed between the non-adverse events group and the overall adverse events group, as well as between the non-adverse events group and the vomiting group, in terms of the factors examined. However, when comparing the non-adverse events group with the group with elevated liver enzyme levels, age at PLP treatment showed a negative correlation, whereas PLP dose showed a positive correlation with elevated liver enzyme levels. The cutoff dose was 40 mg/kg/day (73.3% sensitivity and 60.7% specificity), and the cutoff age was 9 months (100% sensitivity and 40.0% specificity). RRs of doses ≥40 mg/kg/day and age <9 months were 2.6 and 3.6, respectively. CONCLUSIONS: Adverse events of PLP therapy, including vomiting, elevated liver enzymes, and rhabdomyolysis, were observed in approximately half of the participants. Age under 9 months and a dose ≥40 mg/kg/day were identified as risk factors for elevation of liver enzymes on PLP treatment in infants with IESS, with rhabdomyolysis can occur in the younger or higher dose cases.
Assuntos
Fosfato de Piridoxal , Espasmos Infantis , Lactente , Humanos , Fosfato de Piridoxal/efeitos adversos , Estudos Retrospectivos , Espasmos Infantis/tratamento farmacológico , Síndrome , Fatores de Risco , EspasmoRESUMO
BACKGROUND: To clarify the differences in diaphragm thickness between male and female participants in healthy young adults with ultrasonography using the mean intima media thickness (IMT) method and to investigate the relationship between diaphragm thickness and respiratory pressure. METHODS: Twenty-nine healthy individuals (16 females and 13 males) participated in the study. Diaphragm thickness was measured at total lung capacity (TLC) and at functional residual capacity (FRC) in each participant. We measured the diaphragm thickness using a method for mean intima media thickness. Moreover, change ratio of diaphragm thickness was calculated with the diaphragm thickness at TLC and FRC. RESULTS: Mean diaphragm thicknesses at FRC in males were significantly narrower than those in females (p < 0.001). The change ratio of diaphragm thickness was significantly augmented in males compared with that in females (p < 0.001). There was a positive correlation between the change ratio of diaphragm thickness and pulmonary function data and respiratory muscle strength in healthy young adults. CONCLUSIONS: The change ratio of diaphragm thickness using the IMT method can be accurately performed with a high degree of reproducibility by clinical laboratory technicians and may be a useful indicator for evaluating diaphragm muscle strength.
Assuntos
Diafragma/anatomia & histologia , Ultrassonografia , Adulto , Espessura Intima-Media Carotídea , Diafragma/diagnóstico por imagem , Diafragma/fisiologia , Feminino , Capacidade Residual Funcional , Voluntários Saudáveis , Humanos , Masculino , Fatores Sexuais , Capacidade Pulmonar Total , Adulto JovemRESUMO
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a better performance has not been fully addressed. ES of 1199 samples including 763 patients with different disease profiles was performed. ES data were analyzed to detect CNVs by both the eXome Hidden Markov Model (XHMM) and modified Nord's method. To efficiently detect rare CNVs, we aimed to decrease sequencing biases by analyzing, at the same time, the data of all unrelated samples sequenced in the same flow cell as a batch, and to eliminate sex effects of X-linked CNVs by analyzing female and male sequences separately. We also applied several filtering steps for more efficient CNV selection. The average number of CNVs detected in one sample was <5. This optimization together with targeted CNV analysis by Nord's method identified pathogenic/likely pathogenic CNVs in 34 patients (4.5%, 34/763). In particular, among 142 patients with epilepsy, the current protocol detected clinically relevant CNVs in 19 (13.4%) patients, whereas the previous protocol identified them in only 14 (9.9%) patients. Thus, this batch-based XHMM analysis efficiently selected rare pathogenic CNVs in genetic diseases.
Assuntos
Variações do Número de Cópias de DNA , Exoma , Algoritmos , Exoma/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Reprodutibilidade dos Testes , Sequenciamento do ExomaRESUMO
Mothers of children with special healthcare needs often face many extra difficulties, such as being isolated in the community. This study, conducted in the San'in region of Japan between December 2017 and February 2019, aimed to clarify how the mothers established and adapted their connections within their communities through a qualitative descriptive design study. Participants were 12 mothers caring for children with special healthcare needs. Verbatim data on adapting to life after hospital discharge was collected through interviews and analyzed by the modified grounded theory approach. The data generated 14 concepts, which were grouped into four categories, as follows: Difficulties in life that arise from caring for children in social isolation; gaining an objective view of the current situation and future of caring for children with special healthcare needs; collaboration based on the understanding of relationships with others; and feeling fulfilled in life. These describe four phases that the mothers went through which are similar to each stage of the transition theory. Providing support via a collaborative partnership may be effective for mothers experiencing anxiety during the transition stages.
Assuntos
Atenção à Saúde , Mães , Feminino , Teoria Fundamentada , Humanos , Japão , Pesquisa QualitativaRESUMO
The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. Aminoacyl t-RNA synthetase proteins are fundamentally known as the first enzymes of translation, catalysing the conjugation of amino acids to cognate tRNAs for protein synthesis. It is known that certain aminoacyl t-RNA synthetase have multiple non-canonical roles in both transcription and translation, and their disruption results in varied and complicated phenotypes. We clinically and genetically studied seven patients (six male and one female; aged 2 to 12 years) from five unrelated families who all showed the same phenotypes of severe developmental delay or arrest (7/7), hypotonia (6/7), deafness (7/7) and inability to speak (6/7). The subjects further developed intractable epilepsy (7/7) and nystagmus (6/6) with increasing age. They demonstrated characteristic laboratory data, including increased lactate and/or pyruvate levels (7/7), and imaging findings (7/7), including calcification and abnormal signals in the white matter and pathological involvement (2/2) of the corticospinal tracts. Through whole-exome sequencing, we discovered genetic abnormalities in lysyl-tRNA synthetase (KARS). All patients harboured the variant [c.1786C>T, p.Leu596Phe] KARS isoform 1 ([c.1702C>T, p.Leu568Phe] of KARS isoform 2) either in the homozygous state or compound heterozygous state with the following KARS variants, [c.879+1G>A; c.1786C>T, p.Glu252_Glu293del; p.Leu596Phe] ([c.795+1G>A; c.1702C>T, p.Glu224_Glu255del; p.Leu568Phe]) and [c.650G>A; c.1786C>T, p.Gly217Asp; p.Leu596Phe] ([c.566G>A; c.1702C>T, p.Gly189Asp; p.Leu568Phe]). Moreover, similarly disrupted lysyl-tRNA synthetase (LysRS) proteins showed reduced enzymatic activities and abnormal CNSs in Xenopus embryos. Additionally, LysRS acts as a non-canonical inducer of the immune response and has transcriptional activity. We speculated that the complex functions of the abnormal LysRS proteins led to the severe phenotypes in our patients. These KARS pathological variants are novel, including the variant [c.1786C>T; p.Leu596Phe] (c.1702C>T; p.Leu568Phe) shared by all patients in the homozygous or compound-heterozygous state. This common position may play an important role in the development of severe progressive leukodystrophy. Further research is warranted to further elucidate this relationship and to investigate how specific mutated LysRS proteins function to understand the broad spectrum of KARS-related diseases.
Assuntos
Leucodistrofia de Células Globoides/genética , Leucodistrofia de Células Globoides/fisiopatologia , Lisina-tRNA Ligase/genética , Aminoacil-tRNA Sintetases/genética , Aminoacil-tRNA Sintetases/fisiologia , Animais , Criança , Pré-Escolar , Modelos Animais de Doenças , Feminino , Homozigoto , Humanos , Leucoencefalopatias/genética , Lisina-tRNA Ligase/fisiologia , Masculino , Mutação , Linhagem , Fenótipo , Sequenciamento do Exoma , Xenopus laevisRESUMO
AIM: To assess the long-term natural course and prognosis of epilepsy in patients with cerebral palsy (CP). METHOD: We retrospectively collected data for 72 patients (36 males, 36 females) with CP who had epilepsy who visited our institutions between 1980 and 2015. The data from medical records, electroencephalography (EEG), and neuroimaging findings were reviewed. Time-to-event statistical analyses were performed to analyse the remission outcome and the Cox regression model was used for multivariate analyses. RESULTS: Median age at onset of epilepsy was 2 years 0 months, and 17 years 0 months at the latest follow-up. In total, 34 patients (47%, 0.043 per person-year) achieved seizure remission at a median age of 11 years 0 months. Favourable factors for seizure remission included older age, motor disability being able to roll over/crawl but not able to sit, intellectual disability with an IQ between 36 and 70, normal findings on neuroimaging, and CP type other than spastic quadriplegia. In multivariate analysis, spastic quadriplegia was found to be associated with continued seizure activity. Antiepileptic drugs could be discontinued without relapse in 10 patients at a median age of 16 years 6 months, occurring 11 years 6 months after the onset of epilepsy. The drugs were terminated if the patient was aged at least 10 years and had perinatal causative aetiology and normalization or amelioration of epileptiform discharges on EEG. INTERPRETATION: The remission rate of epilepsy in CP increases up to young adulthood, and termination of antiepileptic drugs can be considered in selected cases at older ages. WHAT THIS PAPER ADDS: The remission rate of epilepsy in cerebral palsy increases up to 20 years after onset. In some cases, antiepileptic drugs (AEDs) can be terminated without relapse. Older age, perinatal aetiology, and improvement on electroencephalography are favourable factors for terminating AEDs.
PRONÓSTICO A LARGO PLAZO DE LA EPILEPSIA EN PACIENTES CON PARÁLISIS CEREBRAL: OBJETIVO: Evaluar el curso natural y pronóstico a largo plazo de la epilepsia en niños con parálisis cerebral (PC). MÉTODO: Recopilamos retrospectivamente los datos de 72 pacientes (36 varones, 36 mujeres) con PC que habían tenido epilepsia y concurrieron a nuestras instituciones entre 1980 y 2015. Los datos de los registros médicos, electroencefalográficos (EEG) y los hallazgos de neuroimágenes fueron revisados. Se realizaron análisis estadísticos de tiempo - evento para analizar los resultados de la remisión y se utilizó el modelo de regresión de Cox para los análisis multivariados. RESULTADOS: La edad media del comienzo de la epilepsia fue a los 2 años, y el seguimiento más tardío fue a los 17 años. En total, 34 pacientes (47%, 0,0043 por persona / año) alcanzaron la remisión de las convulsiones a la edad media de los 11 años. Los factores favorables para la remisión de las convulsiones incluyeron mayor edad, la discapacidad motora que sea capaz de rolar, gatear aunque no sentarse, discapacidad intelectual con un CI entre 36 y 70, hallazgos normales en neuroimágenes y otro tipo de PC diferente de la cuadriparesia espástica. En el análisis multivariado, se encontró que la cuadriparesia espástica se asociaba con una actividad convulsiva constante. Las drogas antiepilépticas pudieron ser discontinuadas sin recaídas en 10 pacientes a la edad media de 16 años y 6 meses, 11 años y 6 meses después del comienzo de la epilepsia. Las drogas fueron suspendidas si el paciente tenía por lo menos10 años de edad, etiología perinatal y normalización y disminución de las descargas epilépticas en el EEG. INTERPRETACIÓN: La tasa de remisión de la epilepsia en la PC aumenta hasta la edad adulta temprana, y la terminación de los fármacos antiepilépticos puede considerarse en casos seleccionados a edades más avanzadas.
PROGNÓSTICO EM LONGO PRAZO DA EPILEPSIA EM PACIENTES COM PARALISIA CEREBRAL: OBJETIVO: Avaliar o curso natural em longo prazo e prognóstico da epilepsia em pacientes com paralisia cerebral (PC). MÉTODO: Coletamos retrospectivamente dados coletados para 72 pacientes (36 do sexo masculino, 36 do sexo feminino) com PC que tinham epilepsia e visitaram nossas instituições entre 1980 e 2015. Os dados dos prontuários médicos, eletroencefalografia (EEG), e achados de neuroimagem foram revisados. Análises estatísticas de tempo para o evento foram realizadas para o resultado de remissão e o modelo de regressão de Cox foi usado para análise multivariada. RESULTADOS: A idade mediana do início da epilepsia foi 2 anos e 0 meses, e 17 anos e 0 meses no último acompanhamento. No total, 34 pacientes (47%, 0,043 por pessoa-ano) apresentaram remissão das convulsões em uma idade mediana de 11 anos 0 meses. Fatores favoráveis para a remissão incluíram maior idade, deficiência motora sendo capaz de rolar/arrastar, mas não de sentar, deficiência intelectual com entre 36 e 70, achados normais de neuroimagem, e outros tipos de PC que não quadriplegia espástica. Na análise multivariada, a quadriplegia espástica foi associada com atividade convulsiva continuada. Drogas antiepilépticas puderam ser descontinuadas sem recidiva em 10 pacientes, em uma idade mediana de 16 anos e 6 meses, ocorrendo 11 anos e 6 meses após o início da epilepsia. Os medicamentos foram cessados se o paciente tinha ao menos 10 anos de idade e teve etiologia causadora perinatal e normalização ou melhora das descargas epileptiformes ao EEG. INTERPRETAÇÃO: A taxa de remissão da epilepsia em PC aumenta até a idade adulta jovem, e a cessação das drogas antiepilépticas pode ser considerada em casos selecionados de maior idade.
Assuntos
Paralisia Cerebral/complicações , Epilepsia/complicações , Adolescente , Encéfalo/fisiopatologia , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Neuroimagem/métodos , PrognósticoRESUMO
c-jun, a major component of AP-1 transcription factor, has a wide variety of functions. In the embryonic brain, c-jun mRNA is abundantly expressed in germinal layers around the ventricles. Although the subventricular zone (SVZ) of the adult brain is a derivative of embryonic germinal layers and contains neural precursor cells (NPCs), the c-jun expression pattern is not clear. To study the function of c-jun in adult neurogenesis, we analyzed c-jun expression in the adult SVZ by immunohistochemistry and compared it with that of the embryonic brain. We found that almost all proliferating embryonic NPCs expressed c-jun, but the number of c-jun immunopositive cells among proliferating adult NPCs was about half. In addition, c-jun was hardly expressed in post-mitotic migrating neurons in the embryonic brain, but the majority of c-jun immunopositive cells were tangentially migrating neuroblasts heading toward the olfactory bulb in the adult brain. In addition, status epilepticus is known to enhance the transient proliferation of adult NPCs, but the c-jun expression pattern was not significantly affected. These expression patterns suggest that c-jun has a pivotal role in the proliferation of embryonic NPCs, but it has also other roles in adult neurogenesis.
Assuntos
Células-Tronco Embrionárias/metabolismo , Células-Tronco Neurais/metabolismo , Proteínas Proto-Oncogênicas c-jun/análise , Proteínas Proto-Oncogênicas c-jun/biossíntese , Estado Epiléptico/metabolismo , Animais , Proliferação de Células , Modelos Animais de Doenças , Feminino , Imuno-Histoquímica , Camundongos , Camundongos Endogâmicos ICR , Pilocarpina , Proteínas Proto-Oncogênicas c-jun/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Estado Epiléptico/induzido quimicamenteRESUMO
An 11-year-old boy with Lesch-Nyhan syndrome (LNS) had persistently injured himself by biting his lips and buccal mucosa since infancy. Risperidone was only partially effective in suppressing this behavior. Oral administration of S-adenosylmethionine (SAMe), involving increasing the dose from 400 mg to 1 g, resulted in the amelioration of self-injurious behavior and anxiety as well as marked improvement in his self-esteem, performance at school, and friendships. No adverse effects were noted. SAMe may have a favorable effect on symptoms of LNS by activating monoaminergic pathways and/or increasing the adenosine pool in the salvage pathway of guanosine monophosphate synthesis. Defects in these pathways have been essentially implicated in the neurological pathophysiology of LNS.
Assuntos
Síndrome de Lesch-Nyhan/terapia , S-Adenosilmetionina/uso terapêutico , Comportamento Autodestrutivo/tratamento farmacológico , Criança , Humanos , Hipoxantina Fosforribosiltransferase/genética , Síndrome de Lesch-Nyhan/complicações , Masculino , Qualidade de Vida , Comportamento Autodestrutivo/etiologiaRESUMO
We describe the case of a 15-year-old male with early juvenile type GM2 gangliosidosis. He first manifested with progressive clumsiness in his extremities at the age of 1.5 years, followed by motor regression. Intellectual disability became evident as late as age 6 years. This discrepancy along with rapid motor deterioration after varicella infection, lack of startle response or macrocephaly, and paucity of myoclonus were thought to be characteristic of juvenile GM2 gangliosidosis. In contrast to the cerebellar atrophy as the initial finding in usual juvenile GM2 gangliosidosis, magnetic resonance imaging revealed initially cerebral, and subsequently cerebellar, progressive atrophy. Autistic behavioral problems, including phonophobia, during intellectual regression in this patient was also unusual in juvenile GM2 gangliosidosis. Thus, recognition of these features would prompt proper diagnosis and insights into the pathomechanisms of GM2 gangliosidosis.
Assuntos
Gangliosidoses GM2/diagnóstico por imagem , Adolescente , Idade de Início , Encéfalo/diagnóstico por imagem , Gangliosidoses GM2/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de DoençaRESUMO
Objective: This study aimed to investigate the effectiveness of vigabatrin (VGB) for intractable generalized epilepsy in infants and young children. Methods: We retrospectively examined the data of 12 patients who received VGB at our department. There were eight patients with West syndrome, two with early-infantile epileptic encephalopathy, one with symptomatic generalized epilepsy, and one with early myoclonic encephalopathy. Results: All patients had drug-resistant epilepsy and received at least three antiepileptic drugs (range, 3-10 ; median, 5) before receiving VGB. These drugs included valproate (11 patients), nitrazepam (six patients), adrenocorticotropic hormone (ACTH ; five patients), clonazepam (four patients), and zonisamide (four patients). VGB was effective in only one case of symptomatic West syndrome associated with tuberous sclerosis. In two cases of cryptogenic West syndrome, VGB showed transient effects. Conclusions: VGB showed poor effectiveness for intractable generalized epilepsy in infancy and early childhood, except for West syndrome associated with tuberous sclerosis. Therefore, it is important to carefully select the cases for VGB administration.
Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Vigabatrina/uso terapêutico , Pré-Escolar , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletroencefalografia , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Electromyographic artifacts are sometimes misinterpreted as epileptic discharges in scalp electroencephalograms (EEGs). In addition, the distribution of the epileptic discharges near the earlobe is often distorted by earlobe activation; therefore, these epileptic discharges may not be correctly diagnosed. Here, we report a case of palatal tremor in which diffuse spike-wave-like discharges were apparent on EEG. A 51-year-old woman was referred to our hospital because of transient loss of consciousness while driving. She had a past history of cerebral infarction, cerebellar hemorrhages, and symptomatic epilepsy. Magnetic resonance imaging findings showed T2 hyperintensity in the right inferior olivary nucleus. Single-photon emission computerized tomographic images demonstrated hypoperfusion of the left basal ganglion, bilateral thalamus, and bilateral anteroparietal lobes. Monopolar EEG recording showed diffuse spike-wave-like discharges with a frequency of 3-4 Hz cycle. To clarify the origin of these discharges, pharyngeal EEG recording simultaneously with conventional scalp electrodes was performed, which revealed that the discharges originated from the left pharynx. Rhythmic muscle contraction could be identified at the posterior pharynx and soft palate on close pharyngeal inspection. The electromyographic activities of the palatal tremor spread to the earlobe, and the activated earlobe electrodes apparently induced diffuse spike-wave-like discharges observed on monopolar EEG recording.
Assuntos
Ondas Encefálicas , Encéfalo/fisiopatologia , Eletrodos , Eletroencefalografia , Tremor/fisiopatologia , Artefatos , Encéfalo/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Tremor/diagnóstico , Tremor/terapiaRESUMO
We identified mosaic 1p36 deletions in two patients with developmental delay, distinctive features, and obesity, who can walk alone and communicate with others. Thus, their neurological defects are milder than those in typical patients with 1p36 deletion syndrome because most patients with 1p36 deletion cannot acquire expressive language. Chromosomal microarray testing revealed 3.0 and 4.5 Mb aberrations in the subtelomeric region of the short arm of chromosome 1. Mean signal ratios of the identified aberrations were -0.4 and -0.5, indicating mosaicism, which was confirmed by fluorescence in situ hybridization analysis with a mosaic ratio of 70% and 77%, respectively. Previous studies demonstrated that deletion of the distal 2-3 Mb region would be responsible for hyperphagia and obesity seen in patients. On the other hand, the severity of the neurological defect often correlates with the size of the terminal deletion of 1p36, and patients with larger deletions of 1p36 would usually show severely impaired developmental milestones and be immobile and aphasic. In such cases, hyperphagia and obesity could be clinically masked. In this study, two patients with mosaic deletions of 1p36 showed obesity as a consequence of hyperphagia. This study suggests that patients with 1p36 deletion would be at risk for hyperphagia and obesity when they have both risk factors, that is, (1) deletions including the 2-3 Mb critical region and (2) milder phenotypes that allow them to reach food on their own and to overeat.
Assuntos
Transtornos Cromossômicos/diagnóstico , Deficiências do Desenvolvimento/genética , Mosaicismo , Obesidade/genética , Adolescente , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 1 , Hibridização Genômica Comparativa , Fácies , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , FenótipoAssuntos
Encefalopatias/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética/métodos , Doença Aguda , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/patologia , Criança , Pré-Escolar , Encefalite/diagnóstico por imagem , Encefalite/patologia , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
BACKGROUND: Acute pancreatitis in patients with severe motor and intellectual disability (SMID) is a rare but life-threatening condition. Possible causes of acute pancreatitis in these patients including valproic acid therapy, hypothermia and nasoduodenal tube feeding, have not yet been investigated in detail. The aim of this study was therefore to investigate the risk factors for acute pancreatitis in patients with SMID. METHODS: Five SMID patients with acute pancreatitis and 15 SMID patients without acute pancreatitis were reviewed. Age; serum total cholesterol, triglyceride, total protein, and albumin; height; bodyweight; body surface area; body mass index; daily calorie intake; daily calorie intake per unit of body mass surface area; daily calorie intake per kilogram bodyweight; and valproic acid usage were examined. RESULTS: A statistically significant difference was observed in serum albumin level between the two groups (P = 0.026). CONCLUSION: The mechanism of acute pancreatitis in these patients was considered as pancreatic morphological change, acinar damage, and elevated serum trypsinogen level caused by malnutrition. It is likely that acute pancreatitis in patients with SMID occurs due to the same mechanism as in anorexia nervosa and malnourished patients. To prevent acute pancreatitis in these patients, it is important to maintain adequate nutritional status.
Assuntos
Deficiência Intelectual/complicações , Transtornos das Habilidades Motoras/complicações , Pancreatite/complicações , Doença Aguda , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Adulto JovemRESUMO
Duplications in chromosomal locus 2q24.3 region that solely involve SCN2A remain less explored. Favorable outcomes have been reported in patients with SCN2A gene duplications in cases of mild epilepsy with onset during the neonatal to infantile period, or in infantile epileptic spasm syndrome. Herein, we report a case of microduplications, including SCN2A gene duplications, wherein developmental/epileptic encephalopathy with spike-wave activation during sleep (D/EE-SWAS) developed. A 3-day-old girl without birth complications exhibited tonic seizures in her right limb with eye deviation to the right. She developed drug-resistant seizures, including atypical absence seizures, at 1 year and 6 months old. Despite achieving seizure freedom at 9 years old, she experienced academic difficulties. D/EE-SWAS was diagnosed based on the long-term electroencephalogram findings. Following a corpus callosotomy at 11 years old, her academic performance and emotional expression improved. Comprehensive genetic analysis at 10 years old revealed a microduplication spanning approximately 300 kb within the 2q24.3 region, which included a segment of the SCN2A gene and an adjacent CSRNP3 gene. In conclusion, we reported a rare case of duplications solely encompassing SCN2A. Corpus callosotomy resolved the D/EE-SWAS.
RESUMO
BACKGROUND: Home care for children with severe motor and intellectual disabilities (SMID) is challenging for parents because it is highly intensive and long-lasting. The pursuit of happiness is an essential goal for everyone. However, only a few studies have focused on the happiness of families with such children. OBJECTIVE: The study aimed to examine the subjective happiness of parents of children with SMID receiving home care and identify the factors associated with their happiness. METHODS: We conducted a cross-sectional online questionnaire-based survey of 23 parents of children with SMID and nurses with children without disabilities as controls at Tottori University Hospital, Yonago, Japan from July 1 to August 31, 2023. We set the subjective happiness scale (SHS) scores as the outcomes. We used the Mann-Whitney U test to compare the SHS scores between the two groups. Moreover, we extracted the clinical and demographic factors affecting the SHS scores of parents of children with SMID using univariate linear regression analysis. RESULTS: We obtained responses from 12 parents with SMID and 105 controls. The average SHS scores of parents with SMID and controls were 4.8 and 4.7, respectively, and both groups did not differ significantly. Univariate analysis showed that parental male sex and the presence of a tracheostomy were negatively associated with the SHS scores of parents. CONCLUSIONS: The SHS scores did not differ significantly between parents with SMID and controls. However, more attention seemed necessary for fathers and parents of children who have undergone tracheostomies. Given the exploratory nature of this study and its small sample size, larger-scale investigations are warranted. Additionally, qualitative research conducted after establishing trustful relationships could provide further insights.
RESUMO
Background: In Japan, approximately 35% of facilities experience sedation-related complications for pediatric magnetic resonance imaging (MRI), including severe complications such as respiratory and cardiac arrests. In the medical education field, simulation improves not only the quality of real emergency response but also health care workers' self-efficacy. Individuals with high self-efficacy are better prepared at handling diverse conditions. However, there is no research examining the impact of sedation simulation for pediatric MRI on the self-efficacy of health care workers. This study aimed to retrospectively investigate the impact of sedation simulation for pediatric MRI on the self-efficacy of health care workers in sedation. Methods: The study was conducted on August 18, 2023, and enrolled pediatricians, nurses, and radiological technologists. The impact of sedation simulation for pediatric MRI on the participants was analyzed using confidence scale scores and part of the Pediatric Resuscitation and Escalation of Care Self-Efficacy Scale (PRSES), before and after sedation simulation for pediatric MRI. Results: Eighteen participants (six pediatricians, six nurses, and six radiological technologists) were included in this study. Regarding confidence scale scores, a significant improvement was observed in the overall group (P = 0.002) and among the nurses (P = 0.0036). Regarding the item 'When confronted with a clinically deteriorating child, I know how to ask for assistance' of PRSES, a significant improvement was observed in the overall group (P = 0.0035) and among the radiological technologists (P = 0.048). Conclusion: There's a potential for sedation simulation for pediatric MRI to increase the self-efficacy of health care workers in MRI sedation. Our findings suggest that this training has a valuable role in preparing health care workers to practice sedation for pediatric MRI.