Deborah Rangel - Academia.edu (original) (raw)
Papers by Deborah Rangel
Parkinsonism & Related Disorders, Apr 1, 2019
Background: There are few studies reporting characteristics of patients with cerebellar ataxias i... more Background: There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. Methods: Neurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. Results: A total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%). Mean age was 38.4 ± 15.3 years, mean age at disease onset was 25.6 ± 17.3 years, mean disease duration was 12.8 ± 9.7 years, and mean score on the Scale for the Assessment and Rating of Ataxia (SARA) was 18.4 ± 7.7. Patients with recessive pattern of inheritance were younger, had earlier age at disease onset and greater severity of ataxia, measured by the SARA. Diagnosis was confirmed by molecular analysis, laboratory exams or biopsy in 42.56% (n = 20) of these patients. The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3). Conclusions: In contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.
Sleep Medicine, May 1, 2019
The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick ... more The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results. Methods: We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test. Results: All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time. Conclusion: Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.
Nutritional Neuroscience, Jul 20, 2022
The Cerebellum, Jun 22, 2020
Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unes... more Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.
Arquivos de Neuro-Psiquiatria
Background Treatment at an organized stroke unit center (SUC) improves survival after stroke. Str... more Background Treatment at an organized stroke unit center (SUC) improves survival after stroke. Stroke mortality has decreased worldwide in recent decades. Objective This study shows the experience of a SUC in the Northeast of Brazil, comparing its first, second, and third years. Methods We compared data on the SUC prospectively collected from 31 July 2018 to 31 July 2019 (year 1), August 1st, 2019, to July 31st, 2020 (year 2), and August 1st to July 31st, 2021 (year 3). Results There was an expertise evolution through the years, with good outcomes in spite of the coronavirus disease 2019 pandemic in the 3rd year. Also, in the 1st year, the median (interquartile range) door-to-needle time was 39.5 (29.5–60.8) minutes evolving to 22 (17–30) minutes, and then to 17 (14–22) minutes in the last year. Conclusion This was the first report on a SUC's outcome in the Brazil's Central Arid Northeast countryside, and it shows the improvement in care for patients with stroke through an ef...
São Paulo Medical Journal, 2021
Context: The rostral midbrain and thalamomesencephalic junction are the supranuclear premotor con... more Context: The rostral midbrain and thalamomesencephalic junction are the supranuclear premotor control of vertical eye movements, and is supplied by the posterior thalamo-subthalamic paramedian artery originated from P1 segment of posterior cerebral artery. Case report: A 51-year-old man presented with sudden speech difficulties, dizziness and dyplopia, associated with moderate intensity headache. Neuroophthalmological examination revealed incomplete ptosis of the right eye, with mydriatic pupil, poorly reactive to light. No eye movements were present on attempted upward gaze. On attempted downward gaze, depression of the left eye was observed but with absent saccades. Lateral gaze to the right was intact, while attempted gaze deviation to the left revealed adduction deficit of the right eye with incomplete abduction of the left eye without nystagmus. Convergence was absent. He exhibited left hemiataxia with left hypoestesia. MRI showed acute right paramedian thalamic and mesencephal...
a doenca de Niemann-Pick tipo C (NPC) e uma doenca rara, de heranca autossomica recessiva. A apre... more a doenca de Niemann-Pick tipo C (NPC) e uma doenca rara, de heranca autossomica recessiva. A apresentacao clinica e heterogenea com formas clinicas variando de neonatal a inicio no adulto. OBJETIVOS: o objetivo desse estudo foi realizar a caracterizacao clinica e polissonografica das alteracoes do sono em pacientes com NPC. METODOS: foram avaliados 8 pacientes consecutivos com confirmacao molecular de NPC acompanhados no Hospital Geral de Fortaleza, sendo um em acompanhamento domiciliar. Todos os pacientes passaram por avaliacao neurologica completa e do sono. A Scale for the Assessment and Rating of Ataxia (SARA) e NPC Disability scale foram usadas para quantificar a ataxia e a gravidade da doenca respectivamente. As escalas Pittsburgh Sleep Quality Index (PSQI), Epworth sleepiness scale (ESS), Brazilian Portuguese version of the REM sleep behavior disorder screening questionnaire (RBDSQ-BR), International Restless Legs Syndrome Study Group rating scale (IRLSRS), e a versao Brasile...
Journal of Affective Disorders
Parkinsonism & Related Disorders
Parkinsonism & Related Disorders, Apr 1, 2019
Background: There are few studies reporting characteristics of patients with cerebellar ataxias i... more Background: There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. Methods: Neurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. Results: A total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%). Mean age was 38.4 ± 15.3 years, mean age at disease onset was 25.6 ± 17.3 years, mean disease duration was 12.8 ± 9.7 years, and mean score on the Scale for the Assessment and Rating of Ataxia (SARA) was 18.4 ± 7.7. Patients with recessive pattern of inheritance were younger, had earlier age at disease onset and greater severity of ataxia, measured by the SARA. Diagnosis was confirmed by molecular analysis, laboratory exams or biopsy in 42.56% (n = 20) of these patients. The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3). Conclusions: In contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.
Sleep Medicine, May 1, 2019
The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick ... more The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results. Methods: We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test. Results: All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time. Conclusion: Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.
Nutritional Neuroscience, Jul 20, 2022
The Cerebellum, Jun 22, 2020
Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unes... more Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.
Arquivos de Neuro-Psiquiatria
Background Treatment at an organized stroke unit center (SUC) improves survival after stroke. Str... more Background Treatment at an organized stroke unit center (SUC) improves survival after stroke. Stroke mortality has decreased worldwide in recent decades. Objective This study shows the experience of a SUC in the Northeast of Brazil, comparing its first, second, and third years. Methods We compared data on the SUC prospectively collected from 31 July 2018 to 31 July 2019 (year 1), August 1st, 2019, to July 31st, 2020 (year 2), and August 1st to July 31st, 2021 (year 3). Results There was an expertise evolution through the years, with good outcomes in spite of the coronavirus disease 2019 pandemic in the 3rd year. Also, in the 1st year, the median (interquartile range) door-to-needle time was 39.5 (29.5–60.8) minutes evolving to 22 (17–30) minutes, and then to 17 (14–22) minutes in the last year. Conclusion This was the first report on a SUC's outcome in the Brazil's Central Arid Northeast countryside, and it shows the improvement in care for patients with stroke through an ef...
São Paulo Medical Journal, 2021
Context: The rostral midbrain and thalamomesencephalic junction are the supranuclear premotor con... more Context: The rostral midbrain and thalamomesencephalic junction are the supranuclear premotor control of vertical eye movements, and is supplied by the posterior thalamo-subthalamic paramedian artery originated from P1 segment of posterior cerebral artery. Case report: A 51-year-old man presented with sudden speech difficulties, dizziness and dyplopia, associated with moderate intensity headache. Neuroophthalmological examination revealed incomplete ptosis of the right eye, with mydriatic pupil, poorly reactive to light. No eye movements were present on attempted upward gaze. On attempted downward gaze, depression of the left eye was observed but with absent saccades. Lateral gaze to the right was intact, while attempted gaze deviation to the left revealed adduction deficit of the right eye with incomplete abduction of the left eye without nystagmus. Convergence was absent. He exhibited left hemiataxia with left hypoestesia. MRI showed acute right paramedian thalamic and mesencephal...
a doenca de Niemann-Pick tipo C (NPC) e uma doenca rara, de heranca autossomica recessiva. A apre... more a doenca de Niemann-Pick tipo C (NPC) e uma doenca rara, de heranca autossomica recessiva. A apresentacao clinica e heterogenea com formas clinicas variando de neonatal a inicio no adulto. OBJETIVOS: o objetivo desse estudo foi realizar a caracterizacao clinica e polissonografica das alteracoes do sono em pacientes com NPC. METODOS: foram avaliados 8 pacientes consecutivos com confirmacao molecular de NPC acompanhados no Hospital Geral de Fortaleza, sendo um em acompanhamento domiciliar. Todos os pacientes passaram por avaliacao neurologica completa e do sono. A Scale for the Assessment and Rating of Ataxia (SARA) e NPC Disability scale foram usadas para quantificar a ataxia e a gravidade da doenca respectivamente. As escalas Pittsburgh Sleep Quality Index (PSQI), Epworth sleepiness scale (ESS), Brazilian Portuguese version of the REM sleep behavior disorder screening questionnaire (RBDSQ-BR), International Restless Legs Syndrome Study Group rating scale (IRLSRS), e a versao Brasile...
Journal of Affective Disorders
Parkinsonism & Related Disorders