RESUMO
Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.
Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Síndrome das Pernas Inquietas/tratamento farmacológico , Administração Intravenosa , Ferro/uso terapêutico , Ferritinas/análiseRESUMO
Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.
Assuntos
História do Século XIX , História do Século XX , Medicina na Literatura/história , França , Genética/história , Doenças Genéticas Inatas/históriaRESUMO
Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.
Assuntos
Pessoas Famosas , Música/história , Transtornos da Visão/história , Inglaterra , Alemanha , História do Século XVII , História do Século XVIII , Humanos , Oftalmologia/história , Médicos , Transtornos da Visão/cirurgiaRESUMO
Johann Sebastian Bach suffered during the last year of his life of a progressive visual defect despite two operations done by a famous but quite controversial English ocular surgeon of that time. The exact diagnosis of his ocular problems is unclear but cataracts and complicated glaucoma seem the most plausible. A septic complication following the ocular surgery could have weakened Bach's health leading to his death only three months after the last intervention. In this paper diverse less known aspects of Bach's disease and life are reported.
Assuntos
Humanos , História do Século XVII , História do Século XVIII , Transtornos da Visão/história , Pessoas Famosas , Música/história , Oftalmologia/história , Médicos , Transtornos da Visão/cirurgia , Inglaterra , AlemanhaRESUMO
Emile Zola is one of the greatest writers in universal literature. In his important series of novels called "The Fortune of the Rougon-Macquart", Zola shows a surprising medical knowledge even though he did not have a formal medical education. We highlight not only his outstanding literary talent, but also the scientific relevance of the tremendous contribution to the medical field that can be extracted from his work. In this series, which describe the history of five generations within a large family suffering from neuropsychiatric and general pathologies, Zola emphasizes the hereditary component of several diseases. These observations probably place him as the first novelist who made an explicit emphasis on the power of inheritance in human behavior. He also mentions for the first time several medical aspects that were seldom addressed in the scientific literature of the time, demonstrating the genius of the writer, his outstanding power of observation and the rigorous preparation with which he wrote his work.
Assuntos
Medicina na Literatura/história , França , Doenças Genéticas Inatas/história , Genética/história , História do Século XIX , História do Século XXRESUMO
The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.
Assuntos
Humanos , Masculino , Idoso , Doença de Parkinson/tratamento farmacológico , Agonistas de Dopamina/efeitos adversos , Edema/induzido quimicamente , Edema/patologia , Benzotiazóis/efeitos adversos , Perna (Membro)/patologia , Levodopa/efeitos adversos , Pramipexol , Antiparkinsonianos/efeitos adversosRESUMO
Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
Assuntos
Proteína C9orf72/genética , Expansão das Repetições de DNA/genética , Demência Frontotemporal/genética , Mutação/genética , Idoso , Atrofia , Feminino , Demência Frontotemporal/patologia , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , LinhagemRESUMO
Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
Assuntos
Humanos , Masculino , Feminino , Idoso , Expansão das Repetições de DNA/genética , Demência Frontotemporal/genética , Proteína C9orf72/genética , Mutação/genética , Linhagem , Atrofia , Imageamento por Ressonância Magnética , Predisposição Genética para Doença , Demência Frontotemporal/patologiaRESUMO
The main adverse effects of dopaminergic drugs used in Parkinson's disease are hypotension, somnolence, hallucinations and impulse control disorder. Less common is leg edema. We report on a 68-year-old male receiving levodopa and pramipexole consulting for severe leg edema lasting two years, whose etiology was not ascertained with multiple lab tests. This edema subsided substantially when pramipexole was discontinued and the dose of levodopa was increased to treat motor symptoms.
Assuntos
Benzotiazóis/efeitos adversos , Agonistas de Dopamina/efeitos adversos , Edema/induzido quimicamente , Edema/patologia , Perna (Membro)/patologia , Doença de Parkinson/tratamento farmacológico , Idoso , Antiparkinsonianos/efeitos adversos , Humanos , Levodopa/efeitos adversos , Masculino , PramipexolRESUMO
Background: Restless legs syndrome (RLS) affects 10% of the general population. Aim: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. Material and Methods: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. Results: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. Conclusions: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Síndrome das Pernas Inquietas/tratamento farmacológico , Dopaminérgicos/uso terapêutico , Agonistas de Dopamina/uso terapêutico , Índice de Gravidade de Doença , Estudos Retrospectivos , Seguimentos , Resultado do TratamentoRESUMO
Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recently described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.
Assuntos
Humanos , Feminino , Idoso , Receptores de GABA/imunologia , Encefalite/imunologia , Doença de Hashimoto/imunologia , Convulsões/imunologia , Imageamento por Ressonância Magnética , Encefalite/diagnóstico por imagem , Doença de Hashimoto/diagnóstico por imagem , Anticorpos/imunologiaRESUMO
BACKGROUND: Restless legs syndrome (RLS) affects 10% of the general population. AIM: To analyze a series of patients with a minimum follow-up period of four years, treated during an interval of 14 years. MATERIAL AND METHODS: Retrospective analysis of medical records of 200 patients assessed and followed by the authors at a private outpatient clinic. RESULTS: Fifty patients aged 25 to 90 years (34 females), who had a mean follow-up of 6,3 years (range 4-14 years), were selected. Sixty percent responded to therapy that initially consisted in dopamine agonists in 78% of cases. Thirty four percent remained symptomatic and 4% worsened. RLS severity scale improved from an initial score of 19,2 to 12,5 at the last follow-up visit (p < 0.05). Thirty-three patients (66%) experienced an overall worsening of symptoms beyond pretreatment levels during follow-up. The strategies to overcome this augmentation were the change to another agonist, use of ligands such as pregabalin and gabapentin, opioids and iron. Low ferritin was common in most of the patients in whom it was measured (24 of 45 results), mainly in those with augmentation (p < 0,05). Six percent of patients treated with dopamine agonist developed an impulse control disorder. CONCLUSIONS: RLS is a treatable condition during a long period of follow-up in most patients. We found a high rate of potentiation at presentation which can be explained by the inadequate use of high doses of dopaminergic agents.
Assuntos
Dopaminérgicos/uso terapêutico , Agonistas de Dopamina/uso terapêutico , Síndrome das Pernas Inquietas/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Among autoimmune encephalitides, a prevalent group are those associated with antibodies against the N-Methyl-D-aspartate receptor, which present with behavior abnormalities, psychosis, seizures and abnormal movements. A new variant, mediated by antibodies against the GABA-A receptor, was recen-tly described. We report a 66-years-old female with this form of encephalitis whose main manifestation was the presence of severe seizures leading to status epilepticus. The patient had a good response to immunomodulatory therapy with intravenous methylprednisolone, azathioprine and anticonvulsants. The laboratory tests initially detected anti-thyroid peroxidase antibodies which lead to the misdiagnosis of Hashimoto Encephalitis, which was ruled out after the detection of antibodies against GABA-A receptor. No malignancy was detected.
Assuntos
Encefalite/imunologia , Doença de Hashimoto/imunologia , Receptores de GABA-A/imunologia , Idoso , Anticorpos/imunologia , Encefalite/diagnóstico por imagem , Feminino , Doença de Hashimoto/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Convulsões/imunologiaAssuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fator VII/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Negro ou Afro-Americano , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/genética , População Branca , Predisposição Genética para Doença/genéticaRESUMO
Edvard Munch is one the most transcendental artists of all times. His work is innovative in terms of reflecting the grief, sadness, loneliness and the impact of death in human beings as no one did it before. Behind his work it is possible to find many clues given by Munch himself of the reason of his creativity: a childhood surrounded by death and sorrow, and the development of an affective disorder that led him to alcoholism and many hospitalizations due to psychotic episodes. In this review, we analyze Munch's life and his disease that undoubtedly contributed to his great artistic legacy.