Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 31
Filtrar
1.
Am J Med Genet A ; : e63656, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38760879

RESUMO

KIF1A-related disorders (KRDs) encompass recessive and dominant variants with wide clinical variability. Recent genetic investigations have expanded the clinical phenotypes of heterozygous KIF1A variants. However, there have been a few long-term observational studies of patients with heterozygous KIF1A variants. A retrospective chart review of consecutive patients diagnosed with spastic paraplegia at Miyagi Children's Hospital from 2016 to 2020 identified six patients with heterozygous KIF1A variants. To understand the long-term changes in clinical symptoms, we examined these patients in terms of their characteristics, clinical symptoms, results of electrophysiological and neuroimaging studies, and genetic testing. The median follow-up period was 30 years (4-44 years). This long-term observational study showed that early developmental delay and equinus gait, or unsteady gait, are the first signs of disease onset, appearing with the commencement of independent walking. In addition, later age-related progression was observed in spastic paraplegia, and the appearance of axonal neuropathy and reduced visual acuity were characteristic features of the late disease phenotype. Brain imaging showed age-related progression of cerebellar atrophy and the appearance of hyperintensity of optic radiation on T2WI and FLAIR imaging. Long-term follow-up revealed a pattern of steady progression and a variety of clinical symptoms, including spastic paraplegia, peripheral neuropathy, reduced visual acuity, and some degree of cerebellar ataxia. Clinical variability between patients was observed to some extent, and therefore, further studies are required to determine the phenotype-genotype correlation.

2.
Tohoku J Exp Med ; 262(1): 29-31, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-37967941

RESUMO

Juvenile myasthenia gravis (JMG) exhibits a more favorable response to glucocorticoids and has a better prognosis than adult myasthenia gravis. However, no established treatment exists for refractory JMG. Although thymectomy has been performed in several patients with refractory systemic JMG, there are few detailed clinical descriptions of patients who underwent thymectomy. Here, we present the case of a 10-year-old boy with refractory systemic JMG who was successfully treated with thymectomy. The patient developed symptoms, including dysphagia, malaise, diurnal ptosis, and weakness in the trunk muscles, and he was diagnosed with generalized JMG. Despite undergoing various treatments, including steroids, tacrolimus, steroid pulse therapy, intravenous immunoglobulin, azathioprine (AZT), and rituximab, his symptoms did not improve. Therefore, he underwent a thoracoscopic thymectomy 24 months after disease onset. Thymectomy led to remission, as demonstrated by a significant reduction in the quantitative myasthenia gravis score and anti-acetylcholine receptor antibody levels, which persisted for 43 months after surgery. Our case demonstrates the effectiveness of thymectomy in systemic JMG patients with positive anti-acetylcholine receptor antibodies, despite therapeutic failure with AZT and rituximab, within 2 years of disease onset.


Assuntos
Miastenia Gravis , Timectomia , Criança , Humanos , Masculino , Autoanticorpos , Progressão da Doença , Glucocorticoides/uso terapêutico , Miastenia Gravis/tratamento farmacológico , Miastenia Gravis/cirurgia , Rituximab , Resultado do Tratamento
3.
Brain Dev ; 45(9): 505-511, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37442734

RESUMO

Variants of SCN1A represent the archetypal channelopathy associated with several epilepsy syndromes. The clinical phenotypes have recently expanded from Dravet syndrome. CASE REPORT: We present a female patient with the de novo SCN1A missense variant, c.5340G > A (p. Met1780Ile). The patient had various clinical features with neonatal onset SCN1A epileptic encephalopathy, arthrogryposis multiplex congenita, thoracic hypoplasia, thoracic scoliosis, and hyperekplexia. CONCLUSION: Our findings are compatible with neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis; the most severe phenotype probably caused by gain-of-function variant of SCN1A. The efficacy of sodium channel blocker was also discussed. Further exploration of the phenotype-genotype relationship of SCN1A variants may lead to better pharmacological treatments and family guidance.


Assuntos
Artrogripose , Epilepsias Mioclônicas , Síndromes Epilépticas , Transtornos dos Movimentos , Feminino , Humanos , Artrogripose/genética , Epilepsias Mioclônicas/genética , Mutação de Sentido Incorreto , Transtornos dos Movimentos/genética , Fenótipo , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Mutação
4.
Hist Cienc Saude Manguinhos ; 29(4): 1033-1043, 2022.
Artigo em Inglês, Português | MEDLINE | ID: mdl-36542036

RESUMO

This interview explores the participation of Margarida de Souza Neves, professor emeritus at Pontifícia Universidade Católica do Rio de Janeiro, in the creation of the Graduate Program in the History of the Sciences and Health at Casa de Oswaldo Cruz. To celebrate the twentieth anniversary of this graduate program, professors who have served as coordinators met with Professor Neves to reflect on the meanings of shaping a program in the area of history specializing in research on science and health in Brazil.


A entrevista aborda a participação de Margarida de Souza Neves, professora emérita da Pontifícia Universidade Católica do Rio de Janeiro, na criação do Programa de Pós-graduação em História das Ciências e da Saúde da Casa de Oswaldo Cruz. Para celebrar os 20 anos de existência do PPGHCS, professores que passaram pela coordenação se reúnem com a entrevistada para refletir sobre os significados da formação de um programa na área de história especializado em pesquisas sobre ciências e saúde no Brasil.


Assuntos
Aniversários e Eventos Especiais , Feminino , Humanos , Gravidez , Brasil , História do Século XX
5.
Hist. ciênc. saúde-Manguinhos ; 29(4): 1033-1043, oct,-dic. 2022.
Artigo em Português | LILACS | ID: biblio-1421578

RESUMO

Resumo A entrevista aborda a participação de Margarida de Souza Neves, professora emérita da Pontifícia Universidade Católica do Rio de Janeiro, na criação do Programa de Pós-graduação em História das Ciências e da Saúde da Casa de Oswaldo Cruz. Para celebrar os 20 anos de existência do PPGHCS, professores que passaram pela coordenação se reúnem com a entrevistada para refletir sobre os significados da formação de um programa na área de história especializado em pesquisas sobre ciências e saúde no Brasil.


Abstract This interview explores the participation of Margarida de Souza Neves, professor emeritus at Pontifícia Universidade Católica do Rio de Janeiro, in the creation of the Graduate Program in the History of the Sciences and Health at Casa de Oswaldo Cruz. To celebrate the twentieth anniversary of this graduate program, professors who have served as coordinators met with Professor Neves to reflect on the meanings of shaping a program in the area of history specializing in research on science and health in Brazil.


Assuntos
Ensino , Saúde/história , Educação Continuada , Institucionalização , Brasil , História do Século XX
6.
Tohoku J Exp Med ; 258(1): 49-54, 2022 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-35793947

RESUMO

Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. A few case reports have described hMPV encephalitis or encephalopathy. Neuroimaging data on patients with hMPV encephalitis are scarce. We report a patient with trisomy 13 who developed severe hMPV pneumonia, multifocal cerebral and cerebellar hemorrhagic infarctions and extensive cerebral white matter demyelination. Although adult respiratory distress syndrome and disseminated intravascular coagulation contributed to the devastating central nervous system (CNS) lesions, endothelial dysfunction of the CNS caused by hMPV infection probably also played a pathophysiological role in this case.


Assuntos
Encefalite , Metapneumovirus , Infecções por Paramyxoviridae , Pneumonia Viral , Infecções Respiratórias , Substância Branca , Adulto , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Criança , Encefalite/complicações , Humanos , Lactente , Infecções por Paramyxoviridae/complicações , Pneumonia Viral/complicações , Síndrome da Trissomia do Cromossomo 13/complicações , Substância Branca/diagnóstico por imagem
7.
Tohoku J Exp Med ; 256(4): 321-326, 2022 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-35321980

RESUMO

Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early onset neuromotor disorder and intellectual disabilities caused by variants of ATP8A2. We report sibling cases and systematically analyze previous literature to increase our understanding of CAMRQ4. Japanese siblings presented with athetotic movements at 1 and 2 months of age. They also had ptosis, ophthalmoplegia, feeding difficulty, hypotonia, and severely delayed development. One patient had retinal degeneration and optic atrophy. Flattening of the auditory brainstem responses and areflexia developed. At the last follow-up, neither patient could sit or achieve head control, although some nonverbal communication was preserved. Whole exome sequencing revealed compound heterozygous variants of ATP8A2: NM_016529.6:c.[1741C>T];[2158C>T] p.[(Arg581*)];[(Arg720*)]. The p.(Arg581*) variant has been reported, while the variant p.(Arg720*) was novel. The symptoms did not progress in the early period of development, which makes it difficult to distinguish from dyskinetic cerebral palsy, particularly in solitary cases. However, visual and hearing impairments associated with involuntary movements and severe developmental delay may be a clue to suspect CAMRQ4.


Assuntos
Ataxia Cerebelar , Deficiência Intelectual , Adenosina Trifosfatases , Humanos , Deficiência Intelectual/genética , Hipotonia Muscular , Náusea , Proteínas de Transferência de Fosfolipídeos , Irmãos , Síndrome
8.
Brain Dev ; 44(1): 63-67, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34456088

RESUMO

OBJECTIVE: To describe clinical and genetic studies on a patient with early-onset spinal muscular atrophyX3 (SMAX3) with novel variant of ATP7A. METHODS: Clinical, neurophysiological, neuroimaging and pathological examinations were performed. Whole exome sequencing was applied to search genetic bases of this patient. RESULTS: The patient had gait abnormality from early infantile period. Muscle imaging at 42 years old showed predominant involvement of proximal muscles as compared to the distal muscles. The patient had a novel variant of ATP7A, which was the fourth genotype of ATP7A exhibited as SMAX3. Contrary to previous reports of distal motor neuropathy, the clinical and neuroimaging findings in this case revealed dominant involvement in the proximal portion of the extremities and trunk, which is similar to patients with type III SMA. CONCLUSION: The dominant involvement of proximal motor system in this patient may expand the phenotypic variability of SMAX3. We need to be aware of this disorder in differential diagnosis of patients with type III SMA-like phenotype.


Assuntos
ATPases Transportadoras de Cobre/genética , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/genética , Adulto , Humanos , Masculino , Atrofias Musculares Espinais da Infância/patologia , Atrofias Musculares Espinais da Infância/fisiopatologia
9.
Epilepsy Res ; 177: 106779, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34607214

RESUMO

People with severe motor and intellectual disabilities syndrome (SMIDS) have multiple comorbidities and high mortality rates. This study examined whether there is a difference in the efficacy and tolerability of perampanel (PER) between patients with drug-resistant epilepsy with or without SMIDS. The study identified 65 patients with drug-resistant epilepsy who underwent PER treatment as adjunctive therapy. The 50 % responder rate was 22 % (14/65) overall and 11 % (5/44) in patients with SMIDS versus 43 % (9/21) in patients without SMIDS (p <0.01). Although the overall 50 % responder rate was similar to those of previous reports, PER was less efficacious in the patients with SMIDS; nevertheless, PER was tolerated in the patients with SMIDS.


Assuntos
Epilepsia Resistente a Medicamentos , Deficiência Intelectual , Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Quimioterapia Combinada , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/tratamento farmacológico , Japão , Nitrilas , Piridonas/uso terapêutico , Resultado do Tratamento
10.
Brain Dev ; 43(10): 1029-1032, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34217565

RESUMO

BACKGROUND: The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature. CASE PRESENTATION: We present a long-term follow-up report of a patient with juvenile-onset Sandhoff disease with a motor neuron disease phenotype. The patient had compound heterozygous variants of HEXB (p.Trp460Arg, p. Arg533His); the Trp460Arg was a novel variant. Long-term follow-up revealed no intellectual deterioration, swallowing dysfunction, or respiratory muscle dysfunction despite progressive weakness of the extremities and sensory disturbances. CONCLUSION: We need to be aware of Sandhoff disease in patients with juvenile-onset motor neuron disease.


Assuntos
Doença dos Neurônios Motores/etiologia , Doença de Sandhoff/genética , Adulto , Idade de Início , Seguimentos , Humanos , Fenótipo , Doença de Sandhoff/complicações
11.
Nihon Koshu Eisei Zasshi ; 66(9): 574-581, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31588093

RESUMO

Objective This study aimed (1) to clarify sick leave-related factors in Japanese working cancer patients receiving outpatient treatment and (2) to assess quality of life (QOL) in this group of patients.Methods A survey was conducted using a questionnaire designed for adult cancer patients aged 20 to 64 years who were currently receiving outpatient treatment and living in Hokkaido. The questionnaire was used to collect data on basic characteristics, cancer-related factors, and QOL (SF-12v2, Japanese edition). To clarify the factors related to sick leave, we first calculated the propensity score using logistic regression analysis. The presence or absence of sick leave was the dependent variable, and the basic attributes were the covariates. We then analyzed each variable with significant differences in basic and cancer-related attributes as an independent variable using binomial logistic regression analysis. Quality of life was evaluated by comparing scores on the eight subscales and three component summaries of the SF-12v2.Results There were a total of 147 respondents, of which 79 were included in this study. They were classified into two groups: the leave group (29, 36.7%) and the work continuation group (50, 63.3%). The logistic regression analysis with propensity score adjustment showed that taking leave were associated with patients who were less than 6 months since cancer diagnosis (odds ratio=17.9, P<0.001) and patients who had not undergone surgery (odds ratio=3.9, P=0.011). The QOL scores of the leave group were lower than those of the Japanese national sample in seven out of the eight subscales, and there was a significant decrease in the six items for the work continuation group. In particular, two role functioning dimensions-physical and emotional-were remarkably decreased. In the analysis of component summary scores, it was found that QOL scores of cancer patients were lower for the role component summary (RCS) and physical component summary (PCS) compared with the national samples; however, mental component summary scores showed an increasing trend. The leave group had significantly lower RCS and PCS scores compared with the work continuation group.Conclusion We surveyed Japanese working cancer patients and analyzed sick leave-related factors and QOL in that population. We found that having less than 6 months since cancer diagnosis and not having undergone surgery were highly related to leave, and QOL scores (RCS and PCS) were low. The results of this study indicate that Japanese working cancer patients need to be provided with support that is based on their specific characteristics.


Assuntos
Assistência Ambulatorial , Neoplasias/psicologia , Saúde Ocupacional , Qualidade de Vida , Licença Médica , Adulto , Povo Asiático , Feminino , Humanos , Japão , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Neoplasias/terapia , Pacientes Ambulatoriais , Pontuação de Propensão , Apoio Social , Inquéritos e Questionários , Adulto Jovem
12.
In. Teixeira, Luiz Antonio; Pimenta, Tânia Salgado; Hochman, Gilberto. História da saúde no Brasil. São Paulo, Hucitec, 2018. p.67-100. (Saúde em Debate, 269).
Monografia em Português | HISA - História da Saúde | ID: his-40749

RESUMO

Considerando as mudanças na historiografia a escravidão brasileira, apresenta um panorama das principais temáticas desenvolvidas pelas pesquisas sobre escravidão e saúde no Brasil, destacando o pensamento médico, as doenças propriamente ditas com suas classificações/nomenclaturas e as artes de curar. Estes temas se entrecruzam, mas aparecem aqui de forma separada apenas para facilitar a apresentação. Aborda o pensamento médico e agenciamentos entre as artes de curar.


Assuntos
Doença , Cura Homeopática
13.
Asclepio ; 69(1): 0-0, ene.-jun. 2017.
Artigo em Espanhol | IBECS | ID: ibc-164631

RESUMO

Este artículo pretende abordar aspectos de la historia de la divulgación científica en Brasil en el siglo XIX, a través del analisis de la circulación de algunas traducciones para el portugués de las obras del vulgarizador de la ciencia francés, Louis Figuier. Sus obras, que fueron traducidas para diversas lenguas, recibieron ediciones en Brasil y en Portugal a partir de fines de la década de 1860. En este período, ganaba terreno un modelo de divulgación de las ciencias que se alineaba con la idea de ampliación de conocimientos científicos, con énfasis en las ciencias aplicadas para no especialistas - clase trabajadora, mujeres y jovenes. Sin embargo, ese modelo fue marcado igualmente por limitaciones y discontinuidades que reflejan cuestiones sociales de fondo, en el pasaje al siglo XX. Este trabajo pretende, destacar el papel de los traductores y editores, entendidos como mediadores de las ciencias, que tenían en vista proyectos cuyo principal enfoque era la educación (AU)


This article aims to address aspects of the history of the divulgation of sciences in Brazil in the nineteenth century, through the analysis of the circulation of some translations into Portuguese of the works of French popularizer of science, Louis Figuier. His works, which were translated to different languages, received editions in Brazil and Portugal since late 1860. During this period, a model of popularization of science for non-specialists - working class, women and youth - with emphasis on applied science was gaining terrain. However, this model was also marked by limitations and discontinuities that reflect social issues in the passage to the twentieth century. This paper attempts to highlight the role of translators and editors, understood as mediators of science, whose projects of social reform was primarily focused in popular instruction (AU)


Assuntos
Humanos , História do Século XIX , História do Século XX , Revelação/história , Ciência da Informação/história , Ciência/história , Acesso à Informação/história , Tradução , Brasil/epidemiologia , Portugal/epidemiologia
14.
In. Nascimento, Dilene Raimundo do; Franco, Sebastião Pimentel; Maciel, Ethel Leonor Noia. Uma história brasileira das doenças. Belo Horizonte, Fino traço, 2013. p.35-50. (História).
Monografia em Português | HISA - História da Saúde | ID: his-35287
15.
Hist. ciênc. saúde-Manguinhos ; 19(supl.1): 59-79, dez. 2012. graf, tab
Artigo em Português | LILACS | ID: lil-662504

RESUMO

Apresenta uma primeira análise do perfil sociodemográfico dos óbitos registrados durante a primeira epidemia de cólera no Rio de Janeiro, a partir de dados coletados nos registros de óbito da Santa Casa de Misericórdia. Desde a manifestação do cólera, em 1855, relatos médicos brasileiros apontam seu viés social, que, no caso do país, implicava a alta mortalidade de escravos e livres pobres. Do ponto de vista histórico, entretanto, a epidemia e sua dinâmica foram pouco estudadas. A recuperação de dados originais sobre o cólera e a análise das taxas de mortalidade associadas à doença auxiliam-nos a melhor compreender aspectos do universo escravo na zona urbana da cidade, no período subsequente ao fim do tráfico negreiro.


The article offers a preliminary analysis of the sociodemographic profile of deaths recorded during the first cholera epidemic in Rio de Janeiro, based on data gathered from death records at Santa Casa de Misericórdia Hospital. After cholera appeared in the country in 1855, Brazilian medical reports indicated a social bias, with slaves and the free poor suffering high mortality. From a historical perspective, however, little research has been done on the epidemic and its dynamics. The recovery of original data on cholera and the analysis of cholera mortality rates help us to better understand aspects of the slave universe in the urban zone of Rio de Janeiro in the period following the end of the slave trade.


Assuntos
Humanos , História do Século XIX , Cólera/história , Surtos de Doenças/história , Mortalidade/história , Pessoas Escravizadas , Brasil , Saúde Pública/história , História do Século XIX
18.
Hist Cienc Saude Manguinhos ; 19 Suppl 1: 7-9, 2012 Dec.
Artigo em Inglês, Português | MEDLINE | ID: mdl-23370096
19.
Hist Cienc Saude Manguinhos ; 19 Suppl 1: 59-79, 2012 Dec.
Artigo em Inglês, Português | MEDLINE | ID: mdl-23370100

RESUMO

The article offers a preliminary analysis of the sociodemographic profile of deaths recorded during the first cholera epidemic in Rio de Janeiro, based on data gathered from death records at Santa Casa de Misericórdia Hospital. After cholera appeared in the country in 1855, Brazilian medical reports indicated a social bias, with slaves and the free poor suffering high mortality. From a historical perspective, however, little research has been done on the epidemic and its dynamics. The recovery of original data on cholera and the analysis of cholera mortality rates help us to better understand aspects of the slave universe in the urban zone of Rio de Janeiro in the period following the end of the slave trade.

20.
Hist Cienc Saude Manguinhos ; 19 Suppl 1: 323-6, 2012 Dec.
Artigo em Português | MEDLINE | ID: mdl-23370113
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...