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2.
Arq Neuropsiquiatr ; 80(7): 759-762, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-36254448

RESUMO

To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle-located at the base of the brain-, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.


Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.


Assuntos
Neurologia , Neurociências , Aniversários e Eventos Especiais , Encéfalo , Círculo Arterial do Cérebro , História do Século XVII , Humanos , Neuroanatomia/história , Neurologia/história , Neurociências/história
4.
Arq Neuropsiquiatr ; 80(9): 970-972, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36252738

RESUMO

Augusta Dejerine-Klumpke was ahead of her time, with extensive contributions to the field of neuroanatomy and neurology, achieving international recognition. Despite her great contribution to world neurology, she was expelled from the Salpêtrière hospital in 1917, due to the rivalry and mutual hatred between Pierre Marie and his rival Jules Déjerine, her husband and collaborator.


Augusta Dejerine-Klumpke era uma pessoa à frente de seu tempo, com extensas contribuições para o campo da neuroanatomia e neurologia, alcançando reconhecimento internacional. Apesar de sua grande contribuição para a neurologia mundial, ela foi expulsa do hospital Salpêtrière em 1917, devido à grande rivalidade e ódio mútuo entre Pierre Marie e seu rival Jules Dejerine.


Assuntos
Neurologia , Humanos , Feminino , Neuroanatomia , Hospitais
5.
Neuropsychiatr Dis Treat ; 18: 2121-2131, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36172265

RESUMO

Introduction: Functional neurological disorders (FND) are conditions that cause to alterations in nervous system functions. They are disabling and impair the quality of life of patients but that are potentially reversible provided they have specific management. Functional seizures (FS) and functional movement disorder (FMD) are among the most common subtypes. Studies suggest a strong overlap between FS and FMD; however, there are still no cross-sectional studies that compare the management between these two conditions. Thus, our focus was to carry out a research that compares how these two subtypes of FND are being managed, in addition to assessing rates of understanding and acceptance of a diagnosis of FND. Methods: It is a cross-sectional study with data collected from medical records and interviews with two patients' groups (FS and FMD) treated from a FND clinic of the public health system of Brazil. Results: From 105 medical records of patients with FND analyzed, 60 participants were eligible and agreed to participate in this research, being FS (n = 31) and FMD (n = 29). Statistically significant differences (p < 0.05) were found in the use of antiseizure (FS > FMD), opioids (FMD > FS), multi-professional follow-up (FMD > FS) and rates of understanding and acceptance of an FND diagnosis (FMD > FS). Similarities were found in sociodemographic profiles, medical follow-up, psychiatric comorbidities and use of antidepressants, anxiolytics, antipsychotics and mood stabilizers between two conditions. Conclusion: More similarities than differences in management were found between FS and FMD. Similarities may be related to overlaps in sociodemographic and clinical characteristics between the two groups. Differences may be related to specific issues of each patient and condition. Regardless of the group, patients who perform psychotherapeutic follow-up have higher rates of understanding and acceptance of an FND diagnosis.

7.
Arq. neuropsiquiatr ; 80(7): 759-762, July 2022. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1403522

RESUMO

Abstract To celebrate the 400th anniversary of the birth of Thomas Willis, his main contributions to the development of neurosciences, in particular neurology, are presented. Willis coined the term neurology and contributed significantly to the field of neuroanatomy, with the description of the arterial circle—located at the base of the brain—, which bears his name. He also described the striatum and cranial nerves. Furthermore, as a clinical neurologist, Willis participated in the description of various diseases, including myasthenia gravis and restless legs syndrome.


Resumo Na comemoração dos 400 anos de nascimento de Thomas Willis, são apresentadas as suas principais contribuições para o desenvolvimento das neurociências, em particular a neurologia. Willis cunhou o termo neurologia, contribuiu significativamente na área de neuroanatomia, com a descrição do círculo arterial localizado na base do cérebro, que tem o seu nome, além da descrição do corpo estriado, e de nervos cranianos. Da mesma forma, como neurologista clínico, Willis participou da descrição de várias doenças como a miastenia gravis e da síndrome das pernas inquietas, entre outras doenças.

9.
Arq. neuropsiquiatr ; 80(4): 444-447, Apr. 2022. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1374466

RESUMO

ABSTRACT Even though jazz is a musical style that excels in improvisation and virtuosity, it is not without its share of anecdotes, drama, and downright tragedy, and the biographies of jazz musicians and their demise are fraught with ominous and dire straits. Unsurprisingly, some would develop chronic and fatal diseases. The neurological diseases that afflicted the following six composers and musicians, all of whom are considered jazz legends, are briefly discussed: Charles Mingus, diagnosed with amyotrophic lateral sclerosis; Lester Young and Charlie Parker, both diagnosed with neurosyphilis; Thelonius Monk, who had possible frontotemporal dementia; George Gershwin, who died as a result of brain glioma; and Cole Porter, who developed phantom limb pain following an amputation. The association of lifestyles, with drug abuse, particularly alcohol and heroin, in addition to great sexual promiscuity factors contributed to the development of a series of diseases such as syphilis. In addition, we also described some fatalities such as neurodegenerative diseases and cerebral glioma.


RESUMO Embora o jazz seja um estilo musical que prima pela improvisação e pelo virtuosismo, não é isento de drama e tragédia, e as biografias dos músicos de jazz e a sua morte estão repletas de dificuldades sinistras e terríveis. Alguns desenvolveriam doenças crônicas e fatais. São brevemente discutidas as doenças neurológicas que afligiram os seguintes seis compositores e músicos, todos eles considerados lendas do jazz: Charles Mingus, diagnosticado com esclerose lateral amiotrófica; Lester Young e Charlie Parker, ambos com neurosífilis; Thelonius Monk, que teve uma possível demência frontotemporal; George Gershwin, que morreu em decorrência de glioma cerebral; e Cole Porter, que desenvolveu dor de membro fantasma após uma amputação. A associação do estilo de vida com o abuso de drogas, particularmente álcool e heroína, além de promiscuidade sexual, contribuiu para o desenvolvimento de uma série de doenças, por exemplo, a sífilis. Também descrevemos algumas fatalidades, como doenças neurodegenerativas e glioma cerebral.

10.
Am J Med Genet A ; 188(6): 1875-1880, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35243762

RESUMO

In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM #617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto-axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.


Assuntos
Blefaroptose , Deficiência Intelectual , Proteínas Adaptadoras de Transdução de Sinal/genética , Blefaroptose/diagnóstico , Blefaroptose/genética , Proteínas de Ligação a DNA/genética , Epigênese Genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Mutação , Síndrome
11.
Arq Neuropsiquiatr ; 80(2): 137-144, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35352753

RESUMO

BACKGROUND: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. OBJECTIVE: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). METHODS: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). RESULTS: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. CONCLUSIONS: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.


Assuntos
Atividades Cotidianas , Ataxias Espinocerebelares , Humanos , Índice de Gravidade de Doença
12.
Parkinsons Dis ; 2022: 1746540, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35300121

RESUMO

Introduction: Brain SPECT with 99mTc-TRODAT-1 (SPECT-TRODAT) may be a useful tool in the differential diagnosis of Parkinsonism. Objective: To compare results of SPECT-TRODAT with clinical findings in patients with Parkinsonism. Methods: We evaluated 153 outpatients. SPECT-TRODAT results were visually analyzed into normal, abnormal, symmetric, and asymmetric, and according to the degree of impairment into mild, moderate, marked, and severe (1-4). Results: A direct relationship was found between motor scores severity (MDS-UPDRS-III) and SPECT-TRODAT-reduced binding in general, in the group of patients with synucleinopathies (rho = 0.258, p=0.005), especially in patients with Parkinson's disease (rho = 0.204, p=0.049). Changes in SPECT-TRODAT had high correspondence with symmetry in all Parkinsonism. When comparing groups to the correspondence predominantly bilateral or unilateral impairment in SPECT, there was a difference between patients with SNP (p=0.041) and between this group and patients with secondary Parkinsonism (SP) (p < 0.0001). It was handy in differentiating drug-induced Parkinsonism from synucleinopathies. In the group of drug-induced Parkinsonism, younger people were the ones who showed the most significant reductions in radiotracer uptake. In this group, nonmotor signs resulted in examinations with more significant reductions in radiotracer uptake. When the scans without alterations and those that did not correspond to the symmetry were considered negative, SPECT-TRODAT's accuracy and specificity to differentiate PD from other forms of Parkinsonism were low. There was an inverse correlation between the severity of the SPECT-TRODAT result and the absence of nonmotor signs in patients with drug-induced Parkinsonism. Conclusion: The authors concluded that the SPECT with 99mTc-TRODAT-1 was mainly useful in differentiating between synucleinopathies and secondary Parkinsonism.

13.
Arq Neuropsiquiatr ; 80(1): 97-100, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-35239807

RESUMO

Ernest Hemingway is widely regarded as one of the greatest fiction writers of all time. During his life, he demonstrated several signs of psychological suffering with gradual worsening and presentation of cognitive issues over his late years. Some of his symptoms and the course of his disease suggest that he might have suffered from an organic neurodegenerative condition that contributed to his decline, which culminated in his suicide in 1961. In this historical note, we discuss diagnostic hypotheses compatible with Hemingway's illness, in light of biographical reports.


Assuntos
Demência , Humanos , Masculino
14.
Arq Neuropsiquiatr ; 80(3): 306-315, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35239817

RESUMO

Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA). Usually, the genetic and neurodegenerative forms of cerebellar ataxias present a progressive and inevitable worsening of the clinical picture so that rehabilitation treatment is fundamental. Rehabilitation treatment includes physical therapy, respiratory therapy, speech, voice and swallowing therapy, occupational therapy, and new technologies, such as the use of exergames. The current treatment of patients with cerebellar ataxias, especially neurodegenerative forms, genetic or not, should include these different forms of rehabilitation, with the main objective of improving the quality of life of patients.


Assuntos
Ataxia Cerebelar , Ataxias Espinocerebelares , Humanos , Qualidade de Vida , Fala , Ataxias Espinocerebelares/genética
15.
Arq. neuropsiquiatr ; 80(2): 137-144, Feb. 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1364372

RESUMO

ABSTRACT Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression. There is no established link between formal clinical markers for severity and functional/balance scores that could guide rehabilitation teams. Objective: To evaluate the relationship between functional scales and ataxia severity in order to identify cutoff landmarks for functional loss and estimate the mean SARA (Scale for Assessment and Rating of Ataxia) score for the risk ratings for falls on the BBS (Berg Balance Scale). Methods: Consecutive patients with a molecular diagnosis of SCA (total 89: 31 with SCA2 and 58 with SCA3) were assessed for functionality FIM-ADL (Functional Independence Measure-activities of daily living and Lawton-IADL (instrumental activities of daily living), balance (BBS) and disease severity (SARA). Results: The main disability cutoff landmarks were that the need for supervision for FIM-ADL starts with 12 points on SARA and the need for supervision for Lawton-IADL starts with 14 points on SARA. The first items to require assistance were "expression" and "shopping", respectively. At 20 points on SARA, patients were dependent on all FIM and Lawton items. The item with the greatest impact on distinguishing dependents from independents was "means of transport" in Lawton-IADL and the domain "locomotion" in FIM-ADL. The mean SARA score for patients classified as low risk in the BBS was 9.9 points, and it was 17.4 for medium risk and 25.2 for high risk. Conclusions: Analysis on the correlation between the severity of ataxia and functional scales can form an important guide for understanding the progression of functional dependence among individuals with SCAs.


RESUMO Antecedentes: As ataxias espinocerebelares (SCA) são um grupo de doenças neurodegenerativas caracterizadas pela deterioração do equilíbrio e da funcionalidade, que tende a acompanhar a progressão da doença. Não existe uma ligação estabelecida entre os marcadores clínicos formais de gravidade e escores funcionais e de equilíbrio que possam orientar as equipes de reabilitação. Objetivo: Avaliar a relação entre escalas funcionais e de gravidade da ataxia, buscando identificar pontos de corte para a perda funcional relacionados aos escores de gravidade e aos patamares de Risco de Quedas. Métodos: Uma amostra consecutiva de 89 pacientes com diagnóstico molecular de SCA (31-SCA2 e 58-SCA3) foram avaliados para funcionalidade MIF-AVDs (Medida de independência funcional-Atividades da vida diária) e Lawton-AIVDs (Atividades instrumentais da vida diária), equilíbrio (EEB-escala de Equilíbrio de Berg), e gravidade da ataxia (SARA-escala para avaliação e graduação de ataxia). Resultados: Os principais pontos de corte de deficiência foram: com 12 pontos no SARA começa a necessidade de supervisão para MIF-AVDs e com 14 pontos no SARA começa a necessidade de supervisão para Lawton-AIVDs. Os primeiros itens a necessitar de assistência foram "expressão" e "compras", respectivamente. Com 20 pontos no SARA os pacientes eram dependentes em todos os itens MIF/LAWTON. O item com maior impacto na discriminação entre dependentes e independentes foi "meio de transporte" na Lawton e o domínio "locomoção" na MIF. O escore médio no SARA foi de 9,9 pontos para pacientes classificados com baixo risco na EEB, 17,4 para médio risco e 25,2 para alto risco. Conclusões: A análise da correlação entre a gravidade da ataxia e as escalas funcionais pode ser um importante guia no entendimento da progressão da dependência funcional em indivíduos com SCA.


Assuntos
Humanos , Atividades Cotidianas , Ataxias Espinocerebelares , Índice de Gravidade de Doença
16.
Arq. neuropsiquiatr ; 80(1): 97-100, Jan. 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1360136

RESUMO

ABSTRACT Ernest Hemingway is widely regarded as one of the greatest fiction writers of all time. During his life, he demonstrated several signs of psychological suffering with gradual worsening and presentation of cognitive issues over his late years. Some of his symptoms and the course of his disease suggest that he might have suffered from an organic neurodegenerative condition that contributed to his decline, which culminated in his suicide in 1961. In this historical note, we discuss diagnostic hypotheses compatible with Hemingway's illness, in light of biographical reports.


RESUMO Ernest Hemingway é considerado um dos escritores mais lidos de todos os tempos. Durante sua vida, ele demonstrou diversos sinais de sofrimento psicológico com piora gradual durante seus últimos anos, associado à apresentação de distúrbios cognitivos. Alguns de seus sintomas, assim como o curso da doença, sugerem que ele talvez tenha padecido de uma condição neurodegenerativa orgânica que contribuiu para o seu declínio, culminando em seu suicídio em 1961. Nesta nota histórica, discutimos hipóteses diagnósticas compatíveis com a doença de Hemingway, à luz de relatos biográficos.


Assuntos
Humanos , Masculino , Demência
18.
Arq Neuropsiquiatr ; 80(4): 444-447, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34932644

RESUMO

Even though jazz is a musical style that excels in improvisation and virtuosity, it is not without its share of anecdotes, drama, and downright tragedy, and the biographies of jazz musicians and their demise are fraught with ominous and dire straits. Unsurprisingly, some would develop chronic and fatal diseases. The neurological diseases that afflicted the following six composers and musicians, all of whom are considered jazz legends, are briefly discussed: Charles Mingus, diagnosed with amyotrophic lateral sclerosis; Lester Young and Charlie Parker, both diagnosed with neurosyphilis; Thelonius Monk, who had possible frontotemporal dementia; George Gershwin, who died as a result of brain glioma; and Cole Porter, who developed phantom limb pain following an amputation. The association of lifestyles, with drug abuse, particularly alcohol and heroin, in addition to great sexual promiscuity factors contributed to the development of a series of diseases such as syphilis. In addition, we also described some fatalities such as neurodegenerative diseases and cerebral glioma.


Assuntos
Glioma , Música , Doenças do Sistema Nervoso , Neurossífilis , Transtornos Relacionados ao Uso de Substâncias , Humanos
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