RESUMO
Studies on prodromal stage in spinocerebellar ataxias (SCAs) have become high priority approaches in view of their usefulness to detect biomarkers that herald the onset of permanent ataxia and assess the efficacy of future therapeutical trials [1]. The most comprehensive evaluation of prodromal SCA2 comes from the large and homogeneous population of Cuban preclinical carriers, which derives from a 13 years presymptomatic diagnostic program and the nationwide molecular epidemiological survey (AU)
Assuntos
Humanos , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Ataxina-2/genética , Equilíbrio Postural , Sintomas Prodrômicos , Ataxias Espinocerebelares/genética , Ataxias Espinocerebelares/fisiopatologia , Marcha , Expansão das Repetições de TrinucleotídeosRESUMO
OBJECTIVES: To determine the frequency of Metabolic syndrome (MetS) in stage-2 hypertension and to assess the influence of MetS components over target organ damage (TOD) in Ghanaian patients. METHODS: Forty adult patients with stage-2 hypertension were enrolled in a cross-sectional study developed at the Police Hospital, Accra, between 1st February 2009 and 31st January 2010. Diagnosis of MetS was based on The National Cholesterol Education Program in Adult Treatment Panel Revised in 2005 criteria. The alterations on the heart, aortic and carotid arteries, retina, and kidneys were evaluated through the clinical examination including retinal funduscopy, chest X-Ray, ECG, and serum creatinine quantification. The Brain CT-scan was performed on the patients with clinical cerebrovascular disease manifestations. RESULTS: MetS was diagnosed in 25 cases (62.5%); female sex revealed significant association with MetS (OR, 4.88; 95% CI, 1.19-19.94; P=0.027). Ninety-five percent of patients had TOD. Coronary disease was associated with MetS (OR, 4.43; 95% CI, 1.026-19,27; P=0.047) and diabetes mellitus as single MetS component (OR, 14.00; 95% CI, 1.56-125.61; P=0.018). A positive significant correlation was shown of age with cerebrovascular disease (r=0.381; P=0.015) and coronary disease (r=0.623; P=0.000). Non-significant correlation or association (P>0.05) was shown between number of MetS components and number of TOD. CONCLUSIONS: In stage-2 hypertension patients a high frequency of MetS with a risk increase in female sex was observed. This stage hypertension is for itself an individual risk to develop cardiovascular disease with high frequency none related with MetS, although coronary disease risk was increased in diabetic patients.
Assuntos
HDL-Colesterol/sangue , LDL-Colesterol/sangue , Hipertensão/sangue , Síndrome Metabólica/sangue , Triglicerídeos/sangue , Adulto , Idoso , Biomarcadores/sangue , Índice de Massa Corporal , Doenças Cardiovasculares/sangue , Estudos Transversais , Feminino , Gana/epidemiologia , Hospitais , Humanos , Hipertensão/complicações , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Incidência , Masculino , Síndrome Metabólica/complicações , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Obesidade Abdominal/sangue , Polícia , Fatores de Risco , Índice de Gravidade de Doença , Circunferência da CinturaRESUMO
OBJECTIVES: To explore cardiovascular autonomic regulation in Spinocerebellar ataxia type 2 (SCA2) patients, using heart rate variability (HRV) analysis and neurophysiologic autonomic reflex tests, and determine relations and causal related factors of dysautonomia in SCA2. MATERIALS AND METHODS: Heart rate variability indices for 5 min series of RR intervals were analyzed in 97 SCA2 patients, assessed quantitatively for somatic and autonomic nervous system complaints applying the International Cooperative Ataxia Rating Scale and Scales for Outcomes in Parkinson's disease (SCOPA-AUT), respectively. Autonomic testing included: resting control, standing, Valsalva maneuver and deep breathing. RESULTS: Mean RR, long- and short-term variability indices and spectral density power (LF, HF) indices were lower in the patients group, whereas LF/HF ratio and LF (nu) were higher. Highly differences between groups were observed for seven diagnostic autonomic test indices. Significant correlations were found between different clinical and demographic indices and between clinical indices and some HRV indices. CONCLUSIONS: We confirm the presence of cardiovascular autonomic dysfunction in a large group of SCA2 patients.
Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Frequência Cardíaca/fisiologia , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Fenômenos Fisiológicos Cardiovasculares , Eletrocardiografia/métodos , Eletroencefalografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Análise Espectral , Fatores de Tempo , Adulto JovemRESUMO
OBJECTIVE: A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. METHODS: In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocity (MSV). RESULTS: Among the control individuals, a significant effect of aging on MSV was observed. After elimination of this age influence through a matched-pair approach, a presymptomatic decrease of MSV could be shown. The MSV reduction was stronger in carriers of large expansions. In the years before calculated disease manifestation, the MSV impairment advanced insidiously. CONCLUSION: Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degeneration and may be a useful diagnostic parameter before the onset of ataxia. SIGNIFICANCE: Future neuroprotective therapies of polyglutamine neurodegeneration may be assessed by MSV from earliest to prefinal disease stages.
Assuntos
Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/fisiopatologia , Músculos Oculomotores/fisiopatologia , Movimentos Sacádicos/fisiologia , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Ataxinas , Cerebelo/fisiopatologia , Progressão da Doença , Diagnóstico Precoce , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/genética , Vias Neurais/fisiopatologia , Transtornos da Motilidade Ocular/diagnóstico , Músculos Oculomotores/inervação , Valor Preditivo dos Testes , Prognóstico , Ataxias Espinocerebelares/diagnóstico , Adulto JovemRESUMO
La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa producidapor expansiones del número de repeticiones del trinucleótido CAG en el gen SCA2. Ésta secaracteriza por el síndrome cerebeloso progresivo, el enlentecimiento sacádico y la neuropatíaperiférica, así como por alteracionescognitivas y del sueño [1]. Cuba posee el mayor número de familias afectadas por la SCA2, específicamente en la provincia de Holguín, donde la tasa de prevalencia supera los 40 casospor cada 100.000 habitantes y existen más de 2.000 descendientes directos con riesgo de padecer la enfermedad [2,3]. Hasta el momento,no existe tratamiento farmacológico efectivo contra las ataxias hereditarias, aunque se han descrito numerosos blancos terapéuticos,así como biomarcadores neuroquímicos [4] y electrofisiológicos...(AU)
Assuntos
Humanos , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genética , EletromiografiaRESUMO
A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocit Spinocerebellar ataxia type 2 Among the control individuals, a significant effect of aging on MSV was observed. After elimination of this age influence through a matched-pair approach, a presymptomatic decrease of MSV could be shown. The MSV reduction was stronger in carriers of large expansions. In the years before calculated disease manifestation, the MSV impairment advanced insidiously.Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degenerationPolyglutamine expansion and may be a useful diagnostic parameter before the onset of ataxia. Significance: Future neuroprotective therapies of polyglutamine neurodegeneration may be assessed by MSV from earliest to prefinal disease stages...(AU)
Assuntos
HumanosRESUMO
Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant disorder mani-festing with gait, limb, and speech incoordination, and with distinctive symptomssuch as early slowing of horizontal eye movements and early neuropathy.13 Neuro-pathological analysis has demonstrated severe olivopontocerebellar atrophy (OPCA)early in the course of disease, progressing to involve the anterior horn, substantia ni-gra, thalamus, and somatosensory pathways.4,5 Clinical onset is usually in midlife,but has been observed to range from 1 to 65 years of age, depending on the size ofthe underlying mutation, a CAG (cytosine-adenine-guanine)-trinucleotide repeat ex-pansion in exon 1 of the SCA2 gene...(AU)
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Humanos , Ataxias Espinocerebelares , Atrofias OlivopontocerebelaresRESUMO
INTRODUCTION: The polyneuropathy of critical diseases that often accompanies multiple organ failure (MOF) is one of the various causes that leads to the death of these patients. AIMS: To evaluate the electrophysiological behaviour of peripheral nerves in patients with MOF. Subjects and methods. A prospective cross sectional study was performed in 18 patients with MOF (the study group), 50 healthy subjects and 20 suffering from Guillain Barr Stroll Landry syndrome (GBS) (the control groups). All of them were submitted to sensory and motor peripheral nerve conduction studies. RESULTS: The aetiology of this syndrome was varied: 17 patients required mechanical ventilation and 15 had difficulty in weaning. The main electrophysiological alterations in the study group consisted in a drop in amplitude with prolonged latency and duration, and slowed conduction velocities for the sensory potentials of the median and posterior tibial nerves, while the lowered amplitude in motor nerve conduction was detected to a lesser degree and intensity. On comparing them with those obtained in GBS, statistically significant differences were found. The greatest electrophysiological alterations were detected in those who had difficulty in weaning those who presented an unfavourable evolution. CONCLUSIONS: Subjects with MOF were found to have a predominantly sensory peripheral axono myelinopathy which, on monitoring it electrophysiologically, allows us to establish a prognosis regarding severity, evolution and gradually cutting the dependence on mechanical ventilation
Assuntos
Insuficiência de Múltiplos Órgãos/fisiopatologiaRESUMO
The polyneuropathy of critical diseases that often accompanies multiple organ failure (MOF) is one of thevarious causes that leads to the death of these patients. Aims. To evaluate the electrophysiological behaviour of peripheral nervesin patients with MOF. Subjects and methods. A prospective cross-sectional study was performed in 18 patients with MOF (the studygroup), 50 healthy subjects and 20 suffering from Guillain-Barré-Stroll-Landry syndrome (GBS) (the control groups). All of themwere submitted to sensory and motor peripheral nerve conduction studies. Results. The aetiology of this syndrome was varied: 17patients required mechanical ventilation and 15 had difficulty in weaning. The main electrophysiological alterations in the studygroup consisted in a drop in amplitude with prolonged latency and duration, and slowed conduction velocities for the sensorypotentials of the median and posterior tibial nerves, while the lowered amplitude in motor nerve conduction was detected to a lesserdegree and intensity. On comparing them with those obtained in GBS, statistically significant differences were found. The greatestelectrophysiological alterations were detected in those who had difficulty in weaning -those who presented an unfavourable evolution.Conclusions. Subjects with MOF were found to have a predominantly sensory peripheral axono-myelinopathy which, onmonitoring it electrophysiologically, allows us to establish a prognosis regarding severity, evolution and gradually cutting thedependence on mechanical ventilation...(AU)
Assuntos
Humanos , Insuficiência de Múltiplos Órgãos , Neuropatias DiabéticasRESUMO
Diversos mecanismos se han implicado en la patología de los síndromes epilépticos malignos de la infancia y se ha demostrado la participación inmunológica en estudios experimentales de epilepsia. El efecto de la inmunoglobulina intravenosa (IgIV) se ha presentado en varios casos de epilepsia de difícil control. Es objetivo demostrar la utilidad de la IgIV en síndrome de West (SW) y síndromede Lennox-Gastaut (SLG) de difícil control. Cinco pacientes que reunieron criterios para SW y SLG de difícil control,los cuales recibieron IgIV durante cinco días y, posteriormente, seis dosis quincenales de 0,5 g/kg/día. Se recabaron datos como sexo, edad,inicio de padecimiento y exámenes de laboratorio, que incluyeron Ig ensangre y líquido cefalorraquídeo (LCR). Fueron cuatro niñas con SW sintomático y un niño con SLG sintomático a neuroinfección.La edad de inicio al tratamiento fue de 8-14 meses de edad; losespasmos variaron de 204 a 1.074 en 24 h, con reducción importante después de administrar IgIV. La IgG se incrementó en LCR con relacióna la disminución en el número de las crisis (p< 0,05). La respuesta al tratamiento es satisfactoria, como se ha observado enotras publicaciones; es un tratamiento coadyuvante en casos de difícilcontrol y también puede utilizarse en casos de epilepsia sintomática,con respuesta adecuada...(AU)
Diversos mecanismos estão envolvidos na patologiadas síndromas epilépticas malignas da infância e foi demonstradaa participação imunológica em estudos experimentais da epilepsia.O efeito da imunoglobulina intravenosa (IgIV) foi apresentado emvários casos de epilepsia de difícil controlo. Demonstrar autilidade da IgIV na síndroma de West (SW) e na síndroma de Lennox-Gastaut (SLG) de difícil controlo. Cinco doentescom SW e SLG de difícil controlo, com administração da IgIV durantecinco dias, seguido de seis doses quinzenais de 0,5 g/kg/dia. Obtiveram-se dados como sexo, idade, início da doença e exames laboratoriaisque incluíam imunoglobulinas no sangue e no líquido cefalorraquidiano(LCR). Quatro raparigas com SW e um rapazcom SLG sintomáticos por infecção do Sistema Nervoso. A idade deinício do tratamento foi dos 8-14 meses , os espasmos variaram de 204a 1,074 em 24 horas, com redução importante após administração daIgIV. A IgG aumentou no LCR em relação à diminuição do número decrises (p< 0,05). A resposta ao tratamento foi satisfatória,como se observou noutras populações; é um tratamento coadjuvanteem casos de difícil controlo e também pode se utilizar em caso deepilepsia sintomática, onde...(AU)
Assuntos
Humanos , Lactente , Criança , Radiculopatia , Região Lombossacral/fisiopatologiaRESUMO
INTRODUCTION: Lumbosacral radicular compression syndrome is a disorder that can affect anyone at some moment in their lives, regardless of their sex, age and profession. It appears more frequently in specific groups of people. Late responses constitute neurophysiological studies that allow evaluation of the functional state of the proximal portions of the peripheral nervous system, which are affected to a greater or lesser extent in the course of this pathological state. AIMS. To determine the usefulness of the F wave and H reflex in lumbosacral compressive radiculopathies at L5 and S1. PATIENTS AND METHODS: We examined 100 patients who had been clinically and imagenologically diagnosed as suffering from lumbosacral compressive radiculopathy, which was classified as being L5 and S1. Late responses (F wave and H reflex) were performed and they were compared with a group made up of 74 normal subjects. RESULTS: In patients with L5 radiculopathy, the F wave was abnormal in 66.6% of the cases, where a reduction in the percentage of waves obtained from patients and prolonged minimum, average and maximum latencies predominated. In the case of patients with S1 lumbosacral compressive radiculopathies, 77.5% presented H reflex alterations and the main abnormalities were detected as being the prolongation of reduced amplitude latencies and the absence of response. CONCLUSIONS: The F wave and H reflex are useful tools for evaluating patients with compressive radiculopathies at L5 and S1, respectively.
Assuntos
Região Lombossacral/patologia , Radiculopatia/fisiopatologia , Potenciais de Ação/fisiologia , Adulto , Eletrofisiologia , Feminino , Humanos , Masculino , Radiculopatia/diagnóstico , Reflexo Monosináptico/fisiologiaRESUMO
The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province,which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exonof diseasecausinggene, and it is characterized by a high variability in its clinical and electrophysiological presentation, evenintrafamiliarly. Objective. Factors identification, which explains this variability, could lead to the findings of therapeuticalways that may retard the disease onset. Patients and methods. We have done this research in order to contribute to thisphenotypic variability knowledge of the different structures and functions of the nervous system. Results. By means of molecularand electrophysiological studies we have found two groups well differentiated in a 52patientsample. The first one wascharacterized by CAG repeat expansions above 41 units and by the total blockade of the afferent conduction that is, basicelectrophysiological alteration with axonal damage predominance. The second one was characterized by CAG repeat expansionslower or equal to 41 units and showed a high variability in its electrophysiological behavior with myelinic damage predominance.We realized of the existence of statistical significance correlations between the electrophysiological, clinical and molecularvariables considered. Conclusions. These findings suggest that for by CAG repeat expansions lower or equal to 41 unitsshould be affecting other genetics and/or environmental factors that explain the variability found in this group which arenot significant for clinical and electrophysiological presentation in individuals with CAG repeat expansions...(AU)
Assuntos
Humanos , Ataxias Espinocerebelares/diagnóstico , Eletrofisiologia , DisartriaRESUMO
Introducción: la ataxia espinocerebelosa tipo 2 tiene la mayor prevalencia del mundo en la provincia de Holguín (Cuba). Es causada por la expansión de una secuencia de CAG contenida en el gen SCA2, y se caracteriza por una gran variabilidad en su expresión clínica y electrofisiológica, aun intrafamiliarmente. La identificación de factores que expliquen esta variabilidad podría conducir al descubrimiento de vías terapéuticas que retarden el comienzo de la enfermedad. Objetivo: con el propósito de contribuir al conocimiento de dicha variabilidad fenotípica hemos desarrollado esta investigación. Pacientes y métodos: primero determinamos el número exacto de repeticiones de CAG en una muestra de 52 pacientes SCA2, y luego practicamos estudios electrofisiológicos (estudios de conducción nerviosa periférica y sensitiva, PESS de nervio mediano y tibial posterior así como reflejo H). Resultados: Se identificaron dos grupos bien diferenciados entre sí. El primero incluyó a los pacientes con expansiones mayores de 41 unidades de CAG, y se caracterizó por el bloqueo total de la conducción aferente y el predominio de una lesión tipo axonal. El segundo grupo incluyó a enfermos con expansiones iguales o menores a 41 unidades de CAG, y mostró una gran variabilidad en su comportamiento electrofisiológico además de una lesión predominantemente mielínica. También demostramos la existencia de correlaciones estadísticamente significativas entre las variables electrofisiológicas y las clínicas y moleculares consideradas. Conclusiones: estos hallazgos sugieren que para expansiones menores o iguales a 41 unidades de CAG deben estar influyendo otros factores genéticos o ambientales que provoquen la variabilidad observada y que no son significativos para las manifestaciones clínicas y electrofisiológicas en individuos con expansiones mayores de 41 unidades de CAG(AU)
Introduction: the spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its clinical and electrophysiological presentation, even intrafamiliarly. Objetive: factors identification, which explains this variability, could lead to the findings of therapeutical ways that may retard the disease onset. Patients and Methods: we have done this research in order to contribute to this phenotypic variability knowledge of the different structures and functions of the nervous system. Results: by means of molecular and electrophysiological studies we have found two groups well differentiated in a 52-patient sample. The first one was characterized by CAG repeat expansions above 41 units and by the total blockade of the afferent conduction that is, basic electrophysiological alteration with axonal damage predominance. The second one was characterized by CAG repeat expansions lower or equal to 41 units and showed a high variability in it s electrophysiological behavior with myelinic damage predominance. We realized of the existence of statistical significance correlations between the electrophysiological, clinical and molecular variables considered. Conclusions: these findings suggest that for by CAG repeat expansions lower or equal to 41 units should be affecting other genetics and/or environmental factors that explain the variability found in this group which are not significant for clinical and electrophysiological presentation in individuals with CAG repeat expansions above 41 units(AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Ataxias Espinocerebelares/fisiopatologia , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
INTRODUCTION: Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of the sympathetic or parasympathetic nervous systems in either the peripheral or central parts. OBJECTIVE: To identify the clinical features related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. PATIENTS AND METHODS: We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walk and totally or partly dependent on other people for essential everyday activities). The patients and their families were closely questioned, and full clinical examination included a test for orthostasia. RESULTS: All patients had some signs of peripheral dysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynaud s phenomenon, etc.), 95.2% (constipation, urinary and rectal incontinence, polachuria, palpitations, tachycardia at rest, etc.), exocrine gland disorders in 71.4% (increased lachrymation, reduced sweating, increased or reduced salivation), 87.5% peripheral tissue nutrition disorders. Similarly, in all patients studied there was evidence of central dysautonomic disorder, with a syndrome of cachexia with bulimia, sleep disorders together with dysregulation of thirst and body temperature. CONCLUSIONS: In patients with type 2 hereditary spinocerebellar ataxia with severe disability there was involvement of the peripheral and central nervous system regulating autonomic function.
Assuntos
Sistema Nervoso Periférico/fisiopatologia , Síndrome de Shy-Drager/diagnóstico , Síndrome de Shy-Drager/fisiopatologia , Ataxias Espinocerebelares/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofias Olivopontocerebelares/patologia , Índice de Gravidade de DoençaRESUMO
INTRODUCTION: A patient with type 2 spino cerebellar ataxia has difficulty in carrying out alternate movements such as pronation and supination. OBJECTIVES. To evaluate the function of an automatized system for measuring disorders of alternate movements. PATIENTS AND METHODS: We studied the measurement of diadochokinesia in two groups of healthy patients, a first group (64 persons) to determine the normal intervals and a second group to validate the test (52 persons). We also studied 100 patients for validation of the system. A further 53 patients were evaluated before and after rehabilitation. RESULTS: Analysis of the basic measurements for diagnosis of duodochokinesia showed that the higher the cut off point, the greater the sensitivity of the test, whereas the opposite occurred with the specificity. Thus, regarding a higher cut off, there is a five times greater probability of a positive results in the patients than in healthy persons. However, the probability of a normal result is six times higher in healthy than in affected persons. The results of variant analysis done on patients before and after rehabilitation suggest that the presence of quantitative changes in the second study was due to the positive effect of neuro rehabilitation. CONCLUSION: The technique used is effective for differentiation of affected from healthy persons and its use is justified in the evaluation of co ordination ability after rehabilitation
Assuntos
Braço/fisiopatologia , Movimento/fisiologia , Ataxias Espinocerebelares/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A patient with type 2 spinocerebellar ataxia has difficulty in carrying out alternate movements such aspronation and supination. Objectives. To evaluate the function of an automatized system for measuring disorders of alternatemovements. Patients and methods. We studied the measurement of diadochokinesia in two groups of healthy patients, a first group (64persons) to determine the normal intervals and a second group to validate the test (52 persons). We also studied 100 patients forvalidation of the system. A further 53 patients were evaluated before and after rehabilitation. Results. Analysis of the basic measurementsfor diagnosis of diadochokinesia showed that the higher the cutoff point, the greater the sensitivity of the test, whereas the oppositeoccurred with the specificity. Thus, regarding a higher cutoff, there is a five times greater probability of a positive results in the patientsthan in healthy persons. However, the probability of a normal result is six times higher in healthy than in affected persons. The resultsof variant analysis done on patients before and after rehabilitation suggest that the presence of quantitative changes in the second studywas due to the positive effect of neurorehabilitation...(AU)
Assuntos
Humanos , Ataxias Espinocerebelares , Extremidade Superior , Transtornos dos MovimentosRESUMO
Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of thesympathetic or parasympathetic nervous systems in either the peripheral or central parts. To identify the clinicalfeatures related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. Patients and methods.We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walkand totally or partly dependent on other people for essential everyday activities). The patients and their families were closelyquestioned, and full clinical examination included a test for orthostasia. Results. All patients had some signs of peripheraldysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynauds phenomenon, etc.), 95.2 percent...(AU)
Las manifestaciones disautonómicas son todos aquellos síntomas o signos clínicos que se derivan de un funcionamiento anómalo del sistema nervioso simpático o parasimpático,tanto en sus porciones periféricas como centrales. Identificar las manifestaciones clínicas relacionadas con disautono-míasen el paciente de ataxia espinocerebelosa tipo 2 con discapacidad funcional severa. Se realizó un estudio deserie de casos en 21 enfermos con discapacidad severa (confinadosa la cama o silla de ruedas, que no pueden deambular y dependentotal o parcialmente de otra persona para realizar las actividades vitales). Se efectuó un minucioso interrogatorio clínico a enfermos y familiares, así como un examen físico exhaustivo que incluyó la prueba de ortostatismo. El 100 por ciento de la muestra presentaron alguna manifestación disautonómica periférica: trastornos vasomotores en el 100 por ciento (ortostatismo, frialdad y palidez distal,fenómeno de Raynaud...(AU)
Assuntos
Humanos , Degenerações Espinocerebelares , Ataxia/epidemiologiaRESUMO
INTRODUCTION: The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its clinical and electrophysiological presentation, even intrafamiliarly. OBJECTIVE: Factors identification, which explains this variability, could lead to the findings of therapeutical ways that may retard the disease onset. PATIENTS AND METHODS: We have done this research in order to contribute to this phenotypic variability knowledge of the different structures and functions of the nervous system. RESULTS: By means of molecular and electrophysiological studies we have found two groups well differentiated in a 52-patient sample. The first one was characterized by CAG repeat expansions above 41 units and by the total blockade of the afferent conduction that is, basic electrophysiological alteration with axonal damage predominance. The second one was characterized by CAG repeat expansions lower or equal to 41 units and showed a high variability in it s electrophysiological behavior with myelinic damage predominance. We realized of the existence of statistical significance correlations between the electrophysiological, clinical and molecular variables considered. CONCLUSIONS: These findings suggest that for by CAG repeat expansions lower or equal to 41 units should be affecting other genetics and/or environmental factors that explain the variability found in this group which are not significant for clinical and electrophysiological presentation in individuals with CAG repeat expansions above 41 units.
Assuntos
Ataxias Espinocerebelares/fisiopatologia , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idoso , Criança , Cuba , Estimulação Elétrica , Eletrofisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Filogenia , Índice de Gravidade de Doença , Ataxias Espinocerebelares/classificação , Ataxias Espinocerebelares/genética , Estatística como AssuntoRESUMO
A case of acute Chagas' disease, diagnosed by necropsy, in a 80-year-old woman, is reported. It is assumed that infection was acquired through triatomine bite in Zacoelo de Torres, Jalisco State, Mexico. There were lesions due to Aoffican trypanosomiasis in the heart, esophagus and bowel. Autonomic nervous lesions were detected in the esophagus and bowel. It is emphasized the importance of these findings in an area where few cases of megas were reported.