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INTRODUCTION: Death anxiety is a predictor of exacerbations in both physical and psychological symptoms of chronic diseases. Therefore, having short and easy-to-apply instruments to assess the presence of death anxiety and adopting a multidisciplinary approach to address it are important. METHOD: This study analyzes the psychometric properties of the Death Anxiety Scale (DAS) developed by Donald Templer in a Colombian population of adult patients diagnosed with a chronic disease. The original instrument was linguistically, conceptually, and culturally adapted to Colombian Spanish to be subsequently applied to 301 adult patients with chronic diseases. RESULTS: The exploratory factor analysis revealed a 3-factor structure, with a variance of 47%. Internal consistency was observed (Cronbach's alpha: 0.71; McDonald's omega: 0.76; Guttman's lambda 6 (G6): 0.74; greatest lower bound: 0.54). A correlation coefficient of 0.64 was found between the total score of the DAS and the Beck Anxiety Inventory. CONCLUSION: When comparing the results with the versions of the DAS in Spanish from Mexico and Spain, variability in the psychometric properties was observed; therefore, language cannot be assumed to be a guarantee of the reliability and validity of the instrument.
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El músico francés Maurice Ravel (1875-1937) presentó deterioro neurológico progresivo caracterizado por amnesia, afasia, apraxia, amusia y alexia que se inició a los 57 años, cinco antes de su muerte. Se le practicó lo que se conocía entonces como craneotomía exploratoria y falleció como consecuencia de ello. Hay múltiples publicaciones en las cuales su condición neurológica ha sido evaluada para intentar dilucidar qué enfermedad presentó. Se han considerado demencia tipo Alzheimer, enfermedad de Pick, afasia primaria progresiva, degeneración corticobasal o secuelas de trauma craneoencefálico, ya que tuvo un accidente automovilístico en 1932. Dado que no se practicó autopsia, no se ha podido confirmar el diagnóstico exacto. Se hace una revisión de la literatura y aportes originales sobre la condición neurológica y el impacto psicológico que tuvo en este gran genio musical.
Summary The renowned French composer and musician, Maurice Ravel (18751937) exhibited a perplexing case of progressive degenerative neurological symptoms, namely amnesia, aphasia, apraxia, amusia, and alexia. The symptoms started when Ravel was only fairly young, at 57, five years prior to his death in 1937. He was surgically intervened in what was known then as an exploratory craniotomy and passed away. There are a number of publications in which his life and known medical history were dissected and analyzed in an attempt to diagnose the ailment that Ravel suffered. Many diagnoses have been considered, among them Alzheimer's disease, Pick Disease, primary progressive aphasia, corticobasal degeneration, and complications of head injury following a car crash in 1932. Since an autopsy was not performed, an exact diagnosis is rather unlikely, and no one has been able to confirm or deny any of the aforementioned hypotheses. The authors conducted an extensive revision of existent literature and propose some original ideas regarding Ravel's neurological condition, mainly the psychological impact of Ravel's life and experiences and the way they may have influenced his musical genius.
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Humanos , MasculinoRESUMO
PURPOSE: Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool. CASE PRESENTATION: 55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes. CONCLUSIONS: While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.
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Oclusão da Artéria Retiniana , Esclerite , Amaurose Fugaz/etiologia , Amaurose Fugaz/genética , Anticoagulantes , Feminino , Fibrinolíticos , Humanos , Pessoa de Meia-Idade , Protrombina/genética , Retina , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/tratamento farmacológico , Oclusão da Artéria Retiniana/genética , Esclerite/complicaçõesRESUMO
Dmitri Shostakovich was one of the greatest composers of 20th century, famous for his piano and violin compositions. One of the compositions, the 5th symphony, is arguably his greatest work, which brought him back to the grace of the Soviet authorities in a moment of a political crisis in Russia. Among the experts, there is a theory which supports that Shostakovich's talent was due to a traumatic brain injury involving a shrapnel. Moreover, he might have suffered from a neurodegenerative process throughout his life. In this paper, we intend to discuss these viewpoints.
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Lesões Encefálicas Traumáticas , Pessoas Famosas , Música , Processos Grupais , História do Século XIX , História do Século XX , Humanos , Masculino , Federação RussaRESUMO
Abstract Dmitri Shostakovich was one of the greatest composers of 20th century, famous for his piano and violin compositions. One of the compositions, the 5th symphony, is arguably his greatest work, which brought him back to the grace of the Soviet authorities in a moment of a political crisis in Russia. Among the experts, there is a theory which supports that Shostakovich's talent was due to a traumatic brain injury involving a shrapnel. Moreover, he might have suffered from a neurodegenerative process throughout his life. In this paper, we intend to discuss these viewpoints.
RESUMEN Dmitri Shostakovich fue uno de los más renombrados compositores del siglo XX, famoso por sus obras para violín y piano. Su Quinta Sinfonía, es para muchos su obra más importante. Esta pieza le trajo gran simpatía con las autoridades militares en un momento de crisis en la Unión Soviética. Entre opiniones de expertos, existe una teoría que postula que el talento de Shostakovich es secundario a un trauma craneoencefálico producido por herida de metralla. También se cree que pudo haber sufrido de un proceso neurodegenerativo. Nuestra intención en el presente artículo es discutir estos puntos de vista.
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Humanos , Masculino , História do Século XIX , História do Século XX , Pessoas Famosas , Lesões Encefálicas Traumáticas , Música , Federação Russa , Processos GrupaisRESUMO
RESUMEN INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas. El objetivo es describir actualmente si existe o no relación entre las mutaciones encontradas en los pacientes con neurofibromatosis tipo 1 y las características clínicas que presentan. MÉTODOS: Se realizó un artículo de revisión narrativa para evaluar la relación con el genotipo y fenotipo de los pacientes con neurofibromatosis tipo 1. Se revisaron las bases de datos PubMed, Embase y Lilacs. Se utilizaron los siguientes términos Mesh: Neurofibromatosis, neurofibromatosis tipo 1, genes, genotipo, fenotipo, mutaciones, secuenciación de exoma. Los estudios identificados fueron revisados y analizados. Se presentan los datos de manera cualitativa. RESULTADOS: De 425 artículos, 62 contenían la información necesaria para hacer el análisis. A pesar de que algunos estudios han presentado evidencia de asociación en relación a las mutaciones encontradas y la clínica, realmente no existe una correlación genotipo-fenotipo comprobada en neurofibromatosis tipo 1. Esto sugiere que para los fenotipos discordantes con genotipo similar existen otros factores que deben considerarse tales como la epigenética, alteraciones genéticas o incluso factores ambientales. CONCLUSIONES: Es necesario realizar estudios con cohortes más grande de pacientes para seguir estudiando si existe una relación directa o no.
SUMMARY INTRODUCTION: Neurofibromatosis (von Recklinghausen disease) is an autosomal dominant disease that mainly presents cutaneous and neurological manifestations. The objective is to describe if there is a relationship between the mutations found in patients with neurofibromatosis type 1 and the clinical characteristics they present. METHODS: A narrative review of the literature was carried out in relation to the genotype and phenotype of patients with Neurofibromatosis type 1 using PubMed, Embase, and Lilacs. The following Mesh terms were used: Neurofibromatosis, neurofibromatosis type 1, genes, genotype, phenotype, mutations, exome sequencing. The identified studies were reviewed and analyzed. Data are presented qualitatively RESULTS: Of 425 articles, 62 contained the information necessary to make the analysis. Although some studies have presented evidence of association in relation to the mutations found and the clinical one, there is still no proven genotype-phenotype correlation in neurofibromatosis type 1. This suggests that, for discordant phenotypes with a similar genotype, there are other factors that must be considered such as epigenetics, genetic alterations or even environmental factors. CONCLUSIONS: It is necessary to perform studies with larger cohort of patients to continue studying whether there is a direct relationship or not.
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Mobilidade UrbanaRESUMO
BACKGROUND: Malnutrition has been identified as a factor in growth and learning. The current study aimed to determine the nutritional status and basic learning skills of children from Chocó, Colombia. METHODS: We conducted a cross-sectional study of 631 children aged 5-11 years from two schools, collecting anthropometric measurements, nutritional quality surveys and sociodemographic data. Neuropsychological batteries were applied. RESULTS: A total of 523 children were evaluated, with an average age of 8.49 ± 2.1 years. The results revealed that 2.9% of children were underweight, 0.4% were severely underweight, and 4.8% were diagnosed as having stunted growth. In addition, 71.8% of children were unable to draw a human figure. Beery-Buktenica Visual-Motor Integration test (VMI) performance was below the scores expected for these age groups in 73.9% of children. Battery of Differential and General Abilities (BADYG) performance revealed limited verbal skills. In a subsample of 117 children, anemia was detected in 12.8% of cases, and iron deficiency was present in 44.4% of cases. Global malnutrition was associated with impairments in BADYG performance (OR: 1.98; 95% CI: 1.07-3.86). CONCLUSIONS: The current results revealed that learning performance was below the expected level for children in these age groups across all of the applied tests. Although malnutrition could partially explain the poor performance of children in tests of learning abilities, additional factors are likely to be involved.
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ABSTRACT Central alveolar hypoventilation syndrome has been known for decades as Ondine's curse. It was named as such after a German myth. Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. The present paper reviews the original narrative, its characters, and how it is linked to the most relevant aspects of the disease.
RESUMEN El síndrome de hipoventilación alveolar central (por sus siglas en inglés) se conoce desde hace décadas como la maldición de Ondine. Fue nombrado como tal por un antiguo mito alemán. Aunque la mayoría de las historias se parecen, la tradición oral ha llevado a una mala interpretación de esta historia entre la comunidad médica. El presente artículo revisa la narrativa original, sus personajes y su relación con los aspectos más relevantes de la enfermedad.
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Humanos , Síndromes da Apneia do Sono , HipoventilaçãoRESUMO
Central alveolar hypoventilation syndrome has been known for decades as Ondine's curse. It was named as such after a German myth. Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. The present paper reviews the original narrative, its characters, and how it is linked to the most relevant aspects of the disease.
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Síndromes da Apneia do Sono , Humanos , HipoventilaçãoRESUMO
Both as a physician and as a patient, having neurofibromatosis type 1 has been an important part of my life. In my practice as a physician and as a professor, I have tried to reflect on the reality of living with a genetic condition and how it affects the way I live and practice medicine.
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Atitude Frente a Saúde , Neurofibromatose 1/psicologia , Médicos/psicologia , HumanosRESUMO
Désiré-Magloire Bourneville ought to be thought of as the father of Pediatric Neurology for his significant contributions to the field. He worked as a physician, politician, writer, and editor. He was the first to describe the autosomal dominant genetic condition known as "tuberous sclerosis complex", after conducting an autopsy on a young female patient, where the main finding in the central nervous system was multiple dense tubers. The patient had refractory epilepsy and intellectual disability. His work was based on the study of epilepsy and idiocy, and he was also an advocate of public health and social medicine education; creating day hospital programs for children with this type of neurologic disease.
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Neurologia/história , Pediatria/história , Epilepsia/história , França , História do Século XIX , História do Século XX , Humanos , Esclerose Tuberosa/históriaRESUMO
ABSTRACT Désiré-Magloire Bourneville ought to be thought of as the father of Pediatric Neurology for his significant contributions to the field. He worked as a physician, politician, writer, and editor. He was the first to describe the autosomal dominant genetic condition known as "tuberous sclerosis complex", after conducting an autopsy on a young female patient, where the main finding in the central nervous system was multiple dense tubers. The patient had refractory epilepsy and intellectual disability. His work was based on the study of epilepsy and idiocy, and he was also an advocate of public health and social medicine education; creating day hospital programs for children with this type of neurologic disease.
RESUMEN Désiré-Magloire Bourneville debería ser considerado como el padre de la Neurología Pediátrica por sus importantes contribuciones en este campo. Trabajó como médico, político, escritor y editor. Hizo las primeras descripciones de la condición genética autosómica dominante conocida como "Complejo de esclerosis tuberosa", después de realizar una autopsia en una paciente joven, en la que el principal hallazgo en el sistema nervioso central fueron múltiples lesiones tipo tubérculos. La paciente tenía epilepsia refractaria y discapacidad intelectual como síntomas asociados. Su trabajo se basó en el estudio de la epilepsia y la idiotez, a su vez fue un defensor de salud pública y la educación en medicina social; creando programas de hospital diurno para niños con diferentes tipos de enfermedades neurológicas.
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Humanos , História do Século XIX , História do Século XX , Pediatria/história , Neurologia/história , Esclerose Tuberosa/história , Epilepsia/história , FrançaRESUMO
Abstract The Alice in Wonderland syndrome is a rare clinical neurological condition, defined by the presence of perception disorders usually interpreted by the affected patient as rare metamorphosing and depersonalization phenomena. Due to its extremely rare occurrence and its surreal and sometimes psychedelic character, the syndrome has been associated with the phenomena experienced by Alice, the character in the classic and world-famous story by Lewis Carroll.
Resumen El Síndrome de Alicia en el País de las Maravillas es una condición clínica neurológica de rara aparición, definida por la aparición de alteraciones en la percepción usualmente interpretadas por el paciente que las experimenta, como fenómenos extraños de metamorfosis y despersonalización. Por su naturaleza altamente inusual y su carácter surreal e incluso en ocasiones psicodélico, se ha relacionado al cuadro con los fenómenos experimentados por el personaje de Alicia, en la clásica y mundialmente reconocida historia de Lewis Carroll.
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HumanosRESUMO
Jacqueline du Pré was a British cellist, famous for her masterful interpretations and her passionate style of playing. Her outstanding musical career was, unfortunately, cut short by multiple sclerosis. In the present paper, we conduct a historical and medical analysis of her life story, discussing a few aspects regarding her illness and treatment options available at the time of her diagnosis.
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It could be argued that one of the few unifying qualities all human beings share is the ability to appreciate beauty. While the object of beauty may change from one person to another, the awe and the thrill experienced by an enthralled beholder remains the same. Sometimes, this experience can be so overwhelming it can bring someone to the edge of existence. A very rare condition, known as aesthetic syndrome and, more commonly, Stendhal syndrome, entails a clinical phenomenon in which the presence of a beautiful piece of work or architecture causes dysautonomic symptoms such as tachycardia, diaphoresis, chest pains and loss of consciousness. We present an historical and clinical review of this condition.
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Arte , Transtornos Mentais , Transtornos Psicofisiológicos , História do Século XIX , Humanos , Transtornos Mentais/história , Transtornos Mentais/patologia , Transtornos Mentais/terapia , Transtornos Psicofisiológicos/história , Transtornos Psicofisiológicos/patologia , Transtornos Psicofisiológicos/terapia , Fatores de Risco , SíndromeRESUMO
ABSTRACT It could be argued that one of the few unifying qualities all human beings share is the ability to appreciate beauty. While the object of beauty may change from one person to another, the awe and the thrill experienced by an enthralled beholder remains the same. Sometimes, this experience can be so overwhelming it can bring someone to the edge of existence. A very rare condition, known as aesthetic syndrome and, more commonly, Stendhal syndrome, entails a clinical phenomenon in which the presence of a beautiful piece of work or architecture causes dysautonomic symptoms such as tachycardia, diaphoresis, chest pains and loss of consciousness. We present an historical and clinical review of this condition.
RESUMO Podría decirse que una de las pocas cualidades comunes a todos los seres humanos es la capacidad de apreciar la belleza. Si bien, es cierto que el objeto considerado como bello cambia de una persona a otra, la admiración y profunda emoción que experimenta un espectador en trance, es la misma. En ocasiones, esta experiencia puede llevar una persona hasta el borde mismo de la existencia. Una condición muy rara, conocida como síndrome estético, y en algunos casos, síndrome de Stendhal, comprende un cuadro clínico en el que la presencia de una magnífica y bella pieza de arte o arquitectura, produce síntomas disautonómicos como taquicardia, diaforesis, dolor torácico y pérdida de la consciencia. Presentamos aquí una revisión clínica e histórica de esta condición.
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Humanos , História do Século XIX , Arte , Transtornos Psicofisiológicos/história , Transtornos Psicofisiológicos/patologia , Transtornos Mentais/história , Transtornos Mentais/patologia , Transtornos Mentais/terapia , Transtornos Psicofisiológicos/terapia , Síndrome , Fatores de RiscoRESUMO
Many myths and legends have had a deep influence on modern language, and on modern medical vernacular. The terms "syrinx" and "panic"are two of the most characteristic examples and their use in neurology and other specialties is well known. This article reviews the history of these words in Greek mythology and their use in modern medicine. It is known by very few that clinical symptoms or conditions, such as syringomyelia and panic attacks, have a mythological origin in their definition and naming.
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Mitologia , Pânico , Siringomielia , Terminologia como Assunto , Grécia , HumanosRESUMO
ABSTRACT Many myths and legends have had a deep influence on modern language, and on modern medical vernacular. The terms "syrinx" and "panic"are two of the most characteristic examples and their use in neurology and other specialties is well known. This article reviews the history of these words in Greek mythology and their use in modern medicine. It is known by very few that clinical symptoms or conditions, such as syringomyelia and panic attacks, have a mythological origin in their definition and naming.
RESUMO Muchos mitos y leyendas han tenido una profunda influencia sobre el lenguaje y el uso del argot médico moderno. Los términos "syrinx" y "pánico" son dos de los ejemplos más característicos y su uso en neurología y otras especialidades es bien conocido. Este artículo revisa la historia de estas palabras en la mitología griega y su uso en la medicina moderna. Es conocimiento de pocos que síntomas o condiciones como la siringomielia o los ataques de pánico, tienen un origen mitológico en su definición y denominación.
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Humanos , Pânico , Siringomielia , Mitologia , Terminologia como Assunto , GréciaRESUMO
In 1817, British physician James Parkinson published a 66-page document entitled "Essay on the Shaking Palsy". This brief text became a classical and fundamental piece in the history of medicine and, in particular, of neurology. The authors of this article wish to pay tribute to this great pioneer of neurology, 200 years after the publication of his findings, which would, in turn, immortalize his name and give rise to the renaming on the entity in 1860 by Professor Jean Martin Charcot, father of neurology. It would be known, henceforth as Parkinson's disease.
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Neurologia/história , Doença de Parkinson/história , Geologia/história , História do Século XIX , HumanosRESUMO
ABSTRACT In 1817, British physician James Parkinson published a 66-page document entitled "Essay on the Shaking Palsy". This brief text became a classical and fundamental piece in the history of medicine and, in particular, of neurology. The authors of this article wish to pay tribute to this great pioneer of neurology, 200 years after the publication of his findings, which would, in turn, immortalize his name and give rise to the renaming on the entity in 1860 by Professor Jean Martin Charcot, father of neurology. It would be known, henceforth as Parkinson's disease.
RESUMEN En 1817 el médico británico James Parkinson publicó un documento de 66 páginas titulado "Ensayo sobre la parálisis agitante". Este breve texto es de una gran importancia en la historia de la medicina y en particular de la neurología. Los autores desean rendir homenaje a este gran pionero de la neurología al cumplir doscientos años la publicación que inmortalizaría su nombre y que dio origen a la primera descripción de la entidad que desde 1860, a propuesta del profesor Jean Martin Charcot, el padre de la neurología, se denomina Enfermedad de Parkinson. (James - Hierons).