18 results on '"Uribe Roca C"'
Search Results
2. Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
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González, F., primary, Bala, M., additional, Saucedo, M., additional, Bandeo, L., additional, Pacio, G., additional, Chertcoff, A., additional, De Francesco, L., additional, León Cejas, L., additional, Pacha, M.S., additional, Uribe Roca, C., additional, Martínez, O., additional, Fernández Pardal, M., additional, Reisin, R., additional, and Bonardo, P., additional
- Published
- 2022
- Full Text
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3. Trombosis venosa cerebral en paciente joven con COVID-19
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Bustos, A., Ceresetto, J. M., González, F., Caiza Zambrano, F., Bala, M., Bandeo, L., Uribe Roca, C., Cejas, L. León, Stemmelin, G, Fernández Pardal, M., Reisin, R., Bonardo, P., Bustos, A., Ceresetto, J. M., González, F., Caiza Zambrano, F., Bala, M., Bandeo, L., Uribe Roca, C., Cejas, L. León, Stemmelin, G, Fernández Pardal, M., Reisin, R., and Bonardo, P.
- Abstract
Cerebral sinus venous thrombosis (CSVT) is an uncommon disease affecting mainly young wom-en. Several risk factors have been described, such as thrombophilia, cancer, oral contraception and pregnancy. Headache is the most common clinical manifestation. Here we describe the case of a young man without risk factors who developed CSVT in association with SARS-CoV-2 bilateral pneumonia. He was treated with anticoagulants with good clini-cal outcome. A possible association between SARS-CoV-2 infection and occurrence of CSVT has been described since COVID-19 pandemic began. Patho-physiology has been linked to endotelial injury and hypercoagulable state seen in severe forms of dis-ease. Anticoagulation with vitamin K antagonist for a period of three months is the treatment of choice, but specifically directed clinical trials are required in order to define a best therapeutic strategy in this special patient population, La trombosis de senos venosos cerebrales (TSVC) es una entidad infrecuente que afecta más habitual-mente a mujeres jóvenes. Entre algunos de los factores de riesgo que se han descripto se destacan la trombofilia, el cáncer, la utilización de anticonceptivos orales con estrógenos y el embarazo. La manifestación clínica más común es la cefalea. Describimos el caso de un paciente masculino sin factores de riesgo que presentó TSVC en contexto de neumonía bilateral por SARS-CoV-2. El paciente recibió trata-miento anticoagulante con buena evolución. Durante la pandemia actual de COVID-19 se ha descrito una posible asociación entre la infección por virus SARS-CoV-2 y la aparición de TSVC. Se postulan diferentes mecanismos fisiopatológicos que podrían explicar la asociación, como la injuria endotelial y el estado de hipercoagulabilidad asociado a formas severas de infección. El tratamiento recomendado actualmente es la anticoagulación con antagonistas de la vitamina K durante 3 meses, aunque se requieren estudios clínicos específicamente dirigidos a fin de definir la estrategia terapéutica óptima para esta población especial de pacientes.
- Published
- 2022
4. Status epilepticusno convulsivo como manifestación inicial en una familia con arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía (CADASIL)
- Author
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González, F., Bala, M., Saucedo, M., Bandeo, L., Pacio, G., Chertcoff, A., De Francesco, L., León Cejas, L., Pacha, M.S., Uribe Roca, C., Martínez, O., Fernández Pardal, M., Reisin, R., and Bonardo, P.
- Abstract
La arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía es una enfermedad autosómica dominante de pequeños vasos causada por mutaciones del gen NOTCH3. Típicamente se presenta con migraña, eventos isquémicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilépticas son inusuales como manifestación inicial, pero aún más infrecuente es su presentación como status epilepticusno convulsivo1. Se presenta una serie familiar de 3casos con esta arteriopatía, entre los cuales 2de ellos tuvieron status epilepticuscomo manifestación de la enfermedad.
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- 2023
- Full Text
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5. Worldwide barriers to genetic testing for movement disorders
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Gatto, E. M., Walker, R. H., Gonzalez, C., Cesarini, M., Cossu, G., Stephen, C. D., Balint, B., Rodriguez-Violante, M., Jankovic, J., Morgante, F., Jinnah, H. A., Albanese, A., Amorin, I., Bhatia, K., Brandabur, M., Canals, F., Cardoso, F., Cardozo, A., Carvalho, V., Chade, A., Chana, P., Darling, A., Correia Guedes, L., De la Cerda, A., de Koning-Tijssen, M., Della Coletta, M. V., Duquette, A., Espay, A., Etcheverry, J., Ferreira, J., Friedman, J., Fung, V., Ganos, C., Ruiz, P. G., Gershanik, O., Gross, K. B. V., Han-Joon, K., Kaji, R., Kotschet, K., Rosa, A. L. D., Litvan, I., Lubarr, N., Marano, M., Josep Marti, M., Martinez Ramirez, D., Miyasaki, J., Munchau, A., Chesta, D. M., Pal, P., Peralta, M. C., Phielipp, N., Maria Riboldi, G., Oroz, M. C. R., Rodriguez-Porcel, F., Sarva, H., Schoels, L., Stamelou, M., and Uribe Roca, C.
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Asia ,Movement disorders ,Disease ,Limited access ,Middle East ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Genetic Testing ,030212 general & internal medicine ,Public funding ,Genetic testing ,Dystonia ,Movement Disorders ,medicine.diagnostic_test ,business.industry ,Chorea ,medicine.disease ,Europe ,Neurology ,Neurology (clinical) ,medicine.symptom ,business ,chorea ,dystonia ,genetic and inherited disorders ,genetic diagnosis ,genetic testing ,movement disorders ,Parkinson's disease ,whole exome sequencing ,030217 neurology & neurosurgery ,Demography - Abstract
Author(s): Gatto, Emilia M; Walker, Ruth H; Gonzalez, Claudio; Cesarini, Martin; Cossu, Giovanni; Stephen, Christopher D; Balint, Bettina; Rodriguez-Violante, Mayela; Jankovic, Joseph; Morgante, Francesca; Jinnah, Hyder A; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society | Abstract: Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.ConclusionsThis survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.
- Published
- 2021
6. Status epilepticus no convulsivo como manifestación inicial en una familia con arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía (CADASIL)
- Author
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González, F., primary, Bala, M., additional, Saucedo, M., additional, Bandeo, L., additional, Pacio, G., additional, Chertcoff, A., additional, De Francesco, L., additional, León Cejas, L., additional, Pacha, M.S., additional, Uribe Roca, C., additional, Martínez, O., additional, Fernández Pardal, M., additional, Reisin, R., additional, and Bonardo, P., additional
- Published
- 2020
- Full Text
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7. High-flow carotid cavernous fistula and 'white eye': A rare and easily misdiagnosed presentation - A case report and literature review.
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Caiza-Zambrano F, Gómez Lastra M, Garbugino S, Gonzalez FM, Galarza Menoscal J, Benetti M, Neme Segura Y, Miquelini LA, Uribe-Roca C, Fernández-Pardal M, León-Cejas L, Reisin R, and Bonardo P
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- Humans, Female, Aged, 80 and over, Carotid-Cavernous Sinus Fistula diagnosis, Diagnostic Errors, Abducens Nerve Diseases etiology, Abducens Nerve Diseases diagnosis
- Abstract
The three classic symptoms of carotid cavernous fistula (CCF) are pulsating exophthalmos, bruit and conjunctival chemosis. Here, we present a clinical case of isolated abducens nerve palsy due to a high-flow CCF in an 84-year-old woman, without the typical congestive orbito-ocular features. It was a diagnostic challenge because, for patients older than 50 years with cardiovascular risk factors, ischaemic mononeuropathy is the most frequent aetiology. This case illustrates the least common type of CCF that can be easily misdiagnosed. Physicians should consider fistula as a possible diagnosis in a patient with isolated abducens nerve palsy even without the classic triad., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2024
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8. [Cerebral infarction in young patients: clinical characteristics and evolution in an Argentine cohort].
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González F, Caiza Zambrano F, Galarza J, Benetti M, Bustos A, Bandeo L, León Cejas L, Uribe Roca C, Fernandez Pardal M, Reisin R, and Bonardo P
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- Humans, Male, Adolescent, Young Adult, Adult, Middle Aged, Female, Retrospective Studies, Prognosis, Cerebral Infarction epidemiology, Cerebral Infarction etiology, Recurrence, Risk Factors, Ischemic Attack, Transient, Stroke diagnosis, Stroke epidemiology, Stroke etiology
- Abstract
Introduction: Stroke (CVA) in young adults comprises approximately 10% of all cerebrovascular events. The information available on the recurrence of a new event in this population and particularly in Latin America is limited. Our objective was to examine the presence of stroke recurrence after having presented a stroke., Methods: A retrospective cohort study was carried out, including patients with arterial cerebral infarctions between the ages of 18 and 55, between January 2005 and May 2020. The main outcome was the recurrence of a cerebrovascular attack., Results: 138 patients were included during a median follow-up of 24 months. The 52.2% (n = 72) were male patients and 73.4% (n = 94) had an initial NIHSS score of less than 4. The 38% (n = 52) had a history of arterial hypertension and 13, 1% (n = 18) history of previous stroke / TIA. 13% (n = 18) presented recurrence during their follow-up., Discussion: The recurrence of neurovascular events occurs predominantly in patients with a history of previous stroke/TIA, probably secondary to diseases that are difficult to diagnose.
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- 2024
9. Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- Author
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González F, Bala M, Saucedo M, Bandeo L, Pacio G, Chertcoff A, De Francesco L, León Cejas L, Pacha MS, Uribe Roca C, Martínez O, Fernández Pardal M, Reisin R, and Bonardo P
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- Humans, Cerebral Infarction, Magnetic Resonance Imaging, Receptor, Notch3 genetics, CADASIL complications, CADASIL diagnosis, CADASIL genetics, Leukoencephalopathies, Status Epilepticus etiology
- Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease., (Copyright © 2020 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)
- Published
- 2023
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10. [Stiff person syndrome associated with thymoma].
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Perri M, Pellegrini D, Uribe Roca C, Gonzalez F, Buero A, Chimondeguy D, and Bruetman JE
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- Humans, Autoantibodies, Thymoma complications, Thymoma diagnosis, Stiff-Person Syndrome complications, Stiff-Person Syndrome diagnosis, Thymus Neoplasms complications, Thymus Neoplasms diagnosis
- Abstract
Stiff-person syndrome is a rare neurological condition characterized by muscular rigidity of the trunk and extremities and muscle spasms triggered by sensory or emotional stimuli, which progresses towards prostration. It has a pathophysiogenic mechanism with an immunological basis, in which autoantibodies, such as antiGAD65, play a central role. Likewise, the detection of these antibodies corroborates the diagnosis in a patient with a suggestive clinical picture. Four to 6% of cases have underlying neoplasms. Treatment is based on symptomatic, immunomodulatory, and underlying disease management in paraneoplastic cases. We report a case of classic stiff person syndrome associated with thymoma and review the main characteristics of this entity.
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- 2023
11. [Long-term psychosocial impact in young stroke survivors: a frequent but often under diagnosed complication].
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Chertcoff AS, Quiroga Narváez J, Saucedo MÁ, Bandeo L, León Cejas L, Uribe Roca C, Fernández Pardal MM, Reisin R, and Bonardo P
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- Adult, Argentina, Depression etiology, Female, Humans, Mental Status and Dementia Tests, Middle Aged, Psychiatric Status Rating Scales, Survivors, Stroke complications
- Abstract
Introduction: Approximately 15% of all strokes occur in young patients, affecting them in the most productive years of their lives. Currently, there is limited information (particularly in Latin America) regarding the long-term psychosocial consequences of stroke in young patients. Therefore, the objective of our study was to analyze the functional impact of stroke in this group of patients, regarding both cognitive and psychosocial aspects., Material and Methods: A Beck Depression Inventory (BDI) was administered to outpatients with ischemic stroke between 16 and 55 years of age in two centers of Argentina. The following variables were compared in depressed and non-depressed individuals: NIHSS, modified Rankin Score, Mini-Mental State Examination, Barthel Index, as well as clinical-demographic variables. A BDI score greater than 10 was considered as marker of depression., Results: Thirty-four patients with cerebral infarction were included, 67% (n = 23) were women, mean age: 45.53 ± 9.78 years (range: 21-59). Eleven patients (33%) had depression; 50% of the population was unable to continue with their previous job and 15% divorced or separated from their partner after the vascular event. The stroke recurrence rate was 0.03%., Conclusions: A high proportion of patients with depressive symptoms was observed. It should be noted that, in the majority, symptoms of depression had not been recognized and the patients were under-treated. Likewise, depression spread persistently after several years of the cerebrovascular event. Likewise, a significant proportion of patients were not able to re-insert themselves into their usual work activity. Moreover, stroke also had an important impact on their affective relationships. Treatment of depression after stroke should be particularly considered in these individuals due to their long-term survival, and should be offered to achieve the highest possible quality of recovery after stroke., Competing Interests: The authors have no conflicts of interest to declare.
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- 2021
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12. Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- Author
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González F, Bala M, Saucedo M, Bandeo L, Pacio G, Chertcoff A, De Francesco L, León Cejas L, Pacha MS, Uribe Roca C, Martínez O, Fernández Pardal M, Reisin R, and Bonardo P
- Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease., (Copyright © 2020 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
13. [Trident sign in spinal cord neurosarcoidosis].
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Bala M, Saucedo M, Bandeo L, Chertcoff A, Uribe-Roca C, Bonardo P, Fernández-Pardal M, Miquelini L, Méndez J, and Reisin R
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- Adrenal Cortex Hormones therapeutic use, Adult, Anti-Inflammatory Agents therapeutic use, Central Nervous System Diseases drug therapy, Central Nervous System Diseases pathology, Diagnosis, Differential, Giant Cells ultrastructure, Granuloma diagnostic imaging, Histiocytes ultrastructure, Humans, Male, Neuromyelitis Optica diagnosis, Sarcoidosis drug therapy, Sarcoidosis pathology, Spinal Cord pathology, Spinal Cord Neoplasms diagnosis, Tomography, X-Ray Computed, Central Nervous System Diseases diagnostic imaging, Magnetic Resonance Imaging methods, Sarcoidosis diagnostic imaging, Spinal Cord diagnostic imaging
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- 2020
- Full Text
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14. Mystery Case: A 78-year-old man with a gait disorder.
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Saucedo M, Chertcoff A, Bandeo L, León Cejas L, Uribe Roca C, Bonardo P, Fernandez Pardal M, Torino R, Mendez J, and Reisin R
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- Aged, Central Nervous System Infections diagnosis, Demyelinating Autoimmune Diseases, CNS diagnosis, Diagnosis, Differential, Gait Disorders, Neurologic etiology, Gait Disorders, Neurologic physiopathology, Hemangioma, Capillary complications, Hemangioma, Capillary pathology, Humans, Magnetic Resonance Imaging, Male, Myelitis, Transverse etiology, Spinal Cord Neoplasms complications, Spinal Cord Neoplasms pathology, Tomography, X-Ray Computed, Hemangioma, Capillary diagnosis, Myelitis, Transverse physiopathology, Spinal Cord Neoplasms diagnosis
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- 2019
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15. Ischemic stroke of the "hand knob area": A case series and literature review.
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Finkelsteyn AM, Saucedo MA, Miquelini LA, Chertcoff A, Bandeo L, Pacha S, León Cejas L, Uribe Roca C, Fernández Pardal M, Reisin R, and Bonardo P
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- Adult, Aged, Aged, 80 and over, Atherosclerosis complications, Brain Ischemia etiology, Cohort Studies, Embolism complications, Female, Hand, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Research Design, Young Adult, Brain Ischemia complications, Cerebral Infarction complications, Paresis etiology, Stroke complications
- Abstract
Isolated hand paresis may reflect an infarction of the "hand knob area", which represents less than 1% of all ischemic strokes. In this type of stroke, a potential source of embolism is often identified. There are no large case series regarding this topic in Latin America. Herein we present the largest cohort of this entity in the region and we compare our results with those previously published. We analyzed all stroke patients admitted to our hospital between May 2015 - June 2018. Only patients with motor +/- sensory deficits restricted to the hand and ischemic stroke confirmed by MRI were included. We assessed stroke mechanism, clinical characteristics and outcome. From 339 patients admitted with ischemic stroke, 12 (3.53%) were included (9 men, 75%). Mean age: 60.4 years-old (range:24-79). Localization of stroke: 8 patients (66%) precentral gyrus, 3 (25%) postcentral; in 1 both gyri were affected. Stroke mechanism according to TOAST classification was as follows: two patients (16%) large artery atherosclerosis, two cardioembolic, one other determined etiology (thrombophilia), seven (58%) undetermined etiology (SUE). Nine patients (75%) received antiplatelets and statins, and three (25%) anticoagulants. The mean follow-up period was 11 months (range 1-26). Stroke recurrence was observed in one patient. At follow up, eight patients (66%) had a modified Rankin Score (mRS) of 0 and one a mRS of 1. In conclusion, in this series the most prevalent stroke mechanism was SUE, mainly embolic stroke of undetermined source. The outcome was excellent regardless of stroke mechanism., (Copyright © 2019 Elsevier Ltd. All rights reserved.)
- Published
- 2019
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16. Blood pressure evolution in young patients with acute ischemic stroke: a new model for understanding the natural course of spontaneous hypertension?
- Author
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Bonardo P, Pantiu F, Chertcoff A, León Cejas L, Pacha S, Uribe Roca C, Ernst G, Fernández Pardal M, and Reisin R
- Subjects
- Adolescent, Adult, Disease Progression, Female, Humans, Male, Middle Aged, Models, Theoretical, Risk Factors, Young Adult, Blood Pressure physiology, Brain Ischemia physiopathology, Hypertension physiopathology, Stroke physiopathology
- Abstract
Background: Approximately 80% of patients suffering an acute ischemic stroke develop transient hypertension. The physiopathological mechanism remains unclear. Due to the lack of vascular risk factors, young adults could be a useful model for understanding blood pressure (BP) evolution in this setting., Methods: Patients between 18 and 55 years old admitted with an acute ischemic stroke were included. BP was evaluated during the following 48 h. Hypertension was defined as: systolic blood pressure (SBP) ≥140 mmHg or diastolic blood pressure (DBP) ≥90 mmHg. Patients were divided into two groups: RF group included those who had a previous vascular risk factor and/or other medical condition known to affect the autonomic function; noRF group included patients without any of the previously stated conditions., Results: Thirty-nine patients were included: mean age: 44.26 years old, 21 were males (53.8%). Mean SBP and DBP at admission were 139.77 ± 5.35 mmHg (range: 90-243) and 84.44 ± 3.02 mmHg (range: 60-128), respectively; 43.58% patients were hypertensive at admission. SBP decreased significantly during the first 48 h (p = 0.044) for the entire population. RF group has higher SBP (p = 0.009) and DBP (p = 0.011) at admission than the noRF group., Conclusion: Most patients were normotensive at admission and BP fell spontaneously despite BP at admission. Young patients without medical conditions that could alter the autonomic system function could be a useful model for understanding acute hypertension in ischemic stroke.
- Published
- 2018
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17. Treatable inherited rare movement disorders.
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Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, and Gatto EM
- Subjects
- Clinical Trials as Topic methods, Humans, Treatment Outcome, Movement Disorders genetics, Movement Disorders therapy, Rare Diseases genetics, Rare Diseases therapy
- Abstract
There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society., (© 2017 International Parkinson and Movement Disorder Society.)
- Published
- 2018
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18. Alcohol-Sensitive Generalized Dystonia.
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Micheli F, Uribe-Roca C, and Saenz-Farret M
- Subjects
- Adult, Humans, Male, Severity of Illness Index, Alcohols adverse effects, Central Nervous System Depressants adverse effects, Dystonic Disorders chemically induced
- Abstract
We report the case of a 29-year-old male patient with a generalized and progressive dystonia that led him unable to stand. Multiple antidystonic treatments were tried without benefit. Alcohol test was positive with a dramatic improvement. To the best of our knowledge, this is the first reported case of generalized dystonia without other clinical manifestations sensitive to alcohol.
- Published
- 2017
- Full Text
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