Benjamim Handfas | Hospital Israelita Albert Einstein (original) (raw)
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Papers by Benjamim Handfas
Neurology, Jan 3, 2015
Clinical features and brain iron accumulation A 21-year-old woman presented with progressive spas... more Clinical features and brain iron accumulation A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age (video on the Neurology ® Web site at Neurology.org). Brain MRI disclosed white matter changes and iron accumulation (figure). Whole exome sequencing detected in fatty acid 2-hydroxylase (FA2H) gene 2 variants never reported: c.169_170insGCGGGCCAGG (p.Asp57Glyfs*66), leading, if translated, to a truncated protein, and c.117C.A (p.Phe39Leu), predicted by computational algorithms to be deleterious. FA2H deficiency is responsible for SPG35, a rare autosomal recessive complicated hereditary spastic paraplegia. 1,2 Strabismus, dysarthria, and spastic paraplegia with brain MRI showing iron accumulation and white matter changes are common in SPG35 and may suggest the diagnosis. 1,2 Molecular analysis is necessary to confirm this unusual condition.
Biological Psychiatry, 1994
5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replicatio... more 5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replication of our previously reported inverse correlation of CSF 5-HIAA with objective medical lethality and suicidal planning in a new population of 39 hospitalized suicide attempters with current DSM-llI-R Major Depression. We also report an impo.-',artt extension of these results by finding significantly lower platelet 5-HT 2 receptor responsivity and a more blunted prolactin response to fenfluramine in high versus low medical lethality depressed suicide attempters (n-55). These results constitute the most comprehensive biologic evidence in live patients to date in support of the serotonin deficiency hypothesis of suicidal behavior in Major Depression, and support the conclusion that the biologic abnormality is associated with high lethality suicidal behavior.
Frontiers in Neurology, 2022
Background Repetitive peripheral nerve sensory stimulation (RPSS) is a potential add-on intervent... more Background Repetitive peripheral nerve sensory stimulation (RPSS) is a potential add-on intervention to motor training for rehabilitation of upper limb paresis after stroke. Benefits of RPSS were reported in subjects in the chronic phase after stroke, but there is limited information about the effects of this intervention within the 1st weeks or months. The primary goal of this study is to compare, in a head-to-head proof-of-principle study, the impact of a single session of suprasensory vs. subsensory RPSS on the upper limb motor performance and learning in subjects at different phases after stroke subacute and chronic phases and mild upper limb motor impairments after stroke. In addition, we examine the effects of RPSS on brain perfusion, functional imaging activation, and γ-aminobutyric acid (GABA) levels. Subjects with mild upper limb motor impairments will be tested with MRI and clinical assessment either at an early (7 days to 3 months post-stroke) or at a chronic (>6 month...
Revista Brasileira De Psiquiatria, Mar 1, 2008
Revista Brasileira De Psiquiatria, Mar 1, 2008
Revista de neurologia
Therapeutic advances have attained excellent results in the battle against systemic cancer. This ... more Therapeutic advances have attained excellent results in the battle against systemic cancer. This has meant cure for many and greater survival. However, these achievements have led to a dramatic increase in neurological complications due to the cancer itself and the surgical treatment on its own or combined with chemotherapy and radiotherapy. These complications, which are very common in childhood neoplasias, have had much less attention than those of adults, although recently excellent reviews have begun to be published. In this paper we review the various complications of systemic cancer and its treatment in childhood, emphasizing the differences from that of adults.
Arquivos de neuro-psiquiatria, 2007
Acute necrotizing encephalopathy was initially reported in Japanese children. The rapid evolution... more Acute necrotizing encephalopathy was initially reported in Japanese children. The rapid evolution and symmetrical brain lesions seen in the brainstem, cerebellum and specially in the thalamus characterize the disease. We studied a 7-month-old-girl, who presented with two episodes of rapid loss of consciousness and paresis without metabolic disturbances. At the first time she had a rapid improvement, but at the second episode the course was fulminant and in two days she lapsed into a clinical state of brain death. The magnetic resonance studies showed symmetrical lesions in the thalamus and additional lesions involving the brainstem and the cerebellum.
Arquivos de Neuro-Psiquiatria, 1996
A case of Chagas' meningoencephalitis in a 47 year-old patient with AIDS is presented. The diagno... more A case of Chagas' meningoencephalitis in a 47 year-old patient with AIDS is presented. The diagnosis was established by examination of the cerebrospinal fluid which showed the presence of Trypanosoma cruzi. CT-scan revealed multiple cerebral lesions which only became evident by contrast administration. A second CT after 13 days showed a severe evolution with displacement of the midline structures leading to the patient's death. This case, as well as other case reports published, has shown the fulminant evolution of Chagas' meningoencephalitis in AIDS patients and the importance of cerebrospinal fluid examination for the diagnosis.
Neurology, Jan 3, 2015
A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus sin... more A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age (video on the Neurology ® Web site at Neurology.org). Brain MRI disclosed white matter changes and iron accumulation (figure). Whole exome sequencing detected in fatty acid 2-hydroxylase (FA2H) gene 2 variants never reported: c.169_170insGCGGGCCAGG (p.Asp57Glyfs*66), leading, if translated, to a truncated protein, and c.117C.A (p.Phe39Leu), predicted by computational algorithms to be deleterious.
Biological Psychiatry, 1994
5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replicatio... more 5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replication of our previously reported inverse correlation of CSF 5-HIAA with objective medical lethality and suicidal planning in a new population of 39 hospitalized suicide attempters with current DSM-llI-R Major Depression. We also report an impo.-',artt extension of these results by finding significantly lower platelet 5-HT 2 receptor responsivity and a more blunted prolactin response to fenfluramine in high versus low medical lethality depressed suicide attempters (n -55). These results constitute the most comprehensive biologic evidence in live patients to date in support of the serotonin deficiency hypothesis of suicidal behavior in Major Depression, and support the conclusion that the biologic abnormality is associated with high lethality suicidal behavior.
Revista Brasileira De Psiquiatria, 2008
OBJECTIVES: Our aims were to investigate the pituitary volume in patients with seasonal winter de... more OBJECTIVES: Our aims were to investigate the pituitary volume in patients with seasonal winter depression and healthy volunteers in winter and summer, and to assess the effects of phototherapy in these patients. METHOD: The pituitary volume of 12 patients with winter depression and 12 healthy controls, paired according gender, age and menstrual cycle, were obtained from magnetic resonance imaging in winter and summer. Eight patients were submitted to phototherapy (10000 vs. 2500 lux) in a double-blind crossover fashion during the winter, and reassessed (symptoms and magnetic resonance imaging) after treatment. RESULTS: There were no significant differences in pituitary volume between controls and patients in winter or summer. Exposure to phototherapy (10000 lux) decreased the depressive symptoms (p = 0.004), but the glandular volume did not change (p = 0.5). However, the pituitary volume in winter showed a positive correlation with the severity of depression in these patients (r = 0.69, p = 0.04). CONCLUSIONS: The results suggest that neither winter depression nor the change of seasons is associated with significant change in the pituitary volume. Despite the fact that this study was performed in a tropical area, phototherapy with 10000 lux showed to be an efficient treatment in this SAD patients sample.
Neurology, Jan 3, 2015
Clinical features and brain iron accumulation A 21-year-old woman presented with progressive spas... more Clinical features and brain iron accumulation A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age (video on the Neurology ® Web site at Neurology.org). Brain MRI disclosed white matter changes and iron accumulation (figure). Whole exome sequencing detected in fatty acid 2-hydroxylase (FA2H) gene 2 variants never reported: c.169_170insGCGGGCCAGG (p.Asp57Glyfs*66), leading, if translated, to a truncated protein, and c.117C.A (p.Phe39Leu), predicted by computational algorithms to be deleterious. FA2H deficiency is responsible for SPG35, a rare autosomal recessive complicated hereditary spastic paraplegia. 1,2 Strabismus, dysarthria, and spastic paraplegia with brain MRI showing iron accumulation and white matter changes are common in SPG35 and may suggest the diagnosis. 1,2 Molecular analysis is necessary to confirm this unusual condition.
Biological Psychiatry, 1994
5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replicatio... more 5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replication of our previously reported inverse correlation of CSF 5-HIAA with objective medical lethality and suicidal planning in a new population of 39 hospitalized suicide attempters with current DSM-llI-R Major Depression. We also report an impo.-',artt extension of these results by finding significantly lower platelet 5-HT 2 receptor responsivity and a more blunted prolactin response to fenfluramine in high versus low medical lethality depressed suicide attempters (n-55). These results constitute the most comprehensive biologic evidence in live patients to date in support of the serotonin deficiency hypothesis of suicidal behavior in Major Depression, and support the conclusion that the biologic abnormality is associated with high lethality suicidal behavior.
Frontiers in Neurology, 2022
Background Repetitive peripheral nerve sensory stimulation (RPSS) is a potential add-on intervent... more Background Repetitive peripheral nerve sensory stimulation (RPSS) is a potential add-on intervention to motor training for rehabilitation of upper limb paresis after stroke. Benefits of RPSS were reported in subjects in the chronic phase after stroke, but there is limited information about the effects of this intervention within the 1st weeks or months. The primary goal of this study is to compare, in a head-to-head proof-of-principle study, the impact of a single session of suprasensory vs. subsensory RPSS on the upper limb motor performance and learning in subjects at different phases after stroke subacute and chronic phases and mild upper limb motor impairments after stroke. In addition, we examine the effects of RPSS on brain perfusion, functional imaging activation, and γ-aminobutyric acid (GABA) levels. Subjects with mild upper limb motor impairments will be tested with MRI and clinical assessment either at an early (7 days to 3 months post-stroke) or at a chronic (>6 month...
Revista Brasileira De Psiquiatria, Mar 1, 2008
Revista Brasileira De Psiquiatria, Mar 1, 2008
Revista de neurologia
Therapeutic advances have attained excellent results in the battle against systemic cancer. This ... more Therapeutic advances have attained excellent results in the battle against systemic cancer. This has meant cure for many and greater survival. However, these achievements have led to a dramatic increase in neurological complications due to the cancer itself and the surgical treatment on its own or combined with chemotherapy and radiotherapy. These complications, which are very common in childhood neoplasias, have had much less attention than those of adults, although recently excellent reviews have begun to be published. In this paper we review the various complications of systemic cancer and its treatment in childhood, emphasizing the differences from that of adults.
Arquivos de neuro-psiquiatria, 2007
Acute necrotizing encephalopathy was initially reported in Japanese children. The rapid evolution... more Acute necrotizing encephalopathy was initially reported in Japanese children. The rapid evolution and symmetrical brain lesions seen in the brainstem, cerebellum and specially in the thalamus characterize the disease. We studied a 7-month-old-girl, who presented with two episodes of rapid loss of consciousness and paresis without metabolic disturbances. At the first time she had a rapid improvement, but at the second episode the course was fulminant and in two days she lapsed into a clinical state of brain death. The magnetic resonance studies showed symmetrical lesions in the thalamus and additional lesions involving the brainstem and the cerebellum.
Arquivos de Neuro-Psiquiatria, 1996
A case of Chagas' meningoencephalitis in a 47 year-old patient with AIDS is presented. The diagno... more A case of Chagas' meningoencephalitis in a 47 year-old patient with AIDS is presented. The diagnosis was established by examination of the cerebrospinal fluid which showed the presence of Trypanosoma cruzi. CT-scan revealed multiple cerebral lesions which only became evident by contrast administration. A second CT after 13 days showed a severe evolution with displacement of the midline structures leading to the patient's death. This case, as well as other case reports published, has shown the fulminant evolution of Chagas' meningoencephalitis in AIDS patients and the importance of cerebrospinal fluid examination for the diagnosis.
Neurology, Jan 3, 2015
A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus sin... more A 21-year-old woman presented with progressive spastic paraplegia, dysarthria, and strabismus since 7 years of age (video on the Neurology ® Web site at Neurology.org). Brain MRI disclosed white matter changes and iron accumulation (figure). Whole exome sequencing detected in fatty acid 2-hydroxylase (FA2H) gene 2 variants never reported: c.169_170insGCGGGCCAGG (p.Asp57Glyfs*66), leading, if translated, to a truncated protein, and c.117C.A (p.Phe39Leu), predicted by computational algorithms to be deleterious.
Biological Psychiatry, 1994
5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replicatio... more 5-hydmxyindoleacetic acid (5-HIAA), the major metabolite of serotonin. We now report a replication of our previously reported inverse correlation of CSF 5-HIAA with objective medical lethality and suicidal planning in a new population of 39 hospitalized suicide attempters with current DSM-llI-R Major Depression. We also report an impo.-',artt extension of these results by finding significantly lower platelet 5-HT 2 receptor responsivity and a more blunted prolactin response to fenfluramine in high versus low medical lethality depressed suicide attempters (n -55). These results constitute the most comprehensive biologic evidence in live patients to date in support of the serotonin deficiency hypothesis of suicidal behavior in Major Depression, and support the conclusion that the biologic abnormality is associated with high lethality suicidal behavior.
Revista Brasileira De Psiquiatria, 2008
OBJECTIVES: Our aims were to investigate the pituitary volume in patients with seasonal winter de... more OBJECTIVES: Our aims were to investigate the pituitary volume in patients with seasonal winter depression and healthy volunteers in winter and summer, and to assess the effects of phototherapy in these patients. METHOD: The pituitary volume of 12 patients with winter depression and 12 healthy controls, paired according gender, age and menstrual cycle, were obtained from magnetic resonance imaging in winter and summer. Eight patients were submitted to phototherapy (10000 vs. 2500 lux) in a double-blind crossover fashion during the winter, and reassessed (symptoms and magnetic resonance imaging) after treatment. RESULTS: There were no significant differences in pituitary volume between controls and patients in winter or summer. Exposure to phototherapy (10000 lux) decreased the depressive symptoms (p = 0.004), but the glandular volume did not change (p = 0.5). However, the pituitary volume in winter showed a positive correlation with the severity of depression in these patients (r = 0.69, p = 0.04). CONCLUSIONS: The results suggest that neither winter depression nor the change of seasons is associated with significant change in the pituitary volume. Despite the fact that this study was performed in a tropical area, phototherapy with 10000 lux showed to be an efficient treatment in this SAD patients sample.