RESUMO
STUDY DESIGN: Cross-sectional study. OBJECTIVES: To determine the prevalence of falls in human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients and possible factors associated to their occurrence. SETTING: Instituto de Pesquisa Clínica Evandro Chagas, Fundação Oswaldo Cruz (FIOCRUZ) - Brazil. METHODS: Thirty-six HAM/TSP patients able to walk at least 20 m were assessed by a questionnaire. Data regarding gender, age, duration of disease (DD), HTLV-I proviral load (HPL), frequency of physical activity (FCA), use of walking aids, functional ambulation level, the number of falls and associated injuries in the last year were reviewed. Multiple correspondence analysis was used to group characteristics of this sample according to the fall occurrence. RESULTS: The prevalence of falls was 63.9% and we observed injuries in 47.8% of the cases. Four groups were identified in the descriptive analysis. One group was formed by faller individuals, men <60 years, independent ambulation, FCA≥3 times per week and HPL <6.6 copies per 100 cells (group B). The other one comprised non-faller patients, women ≥60 years, restricted ambulation, DD ≥7 years, use of orthosis, FCA 0-1 time per week and HPL ≥6.6 copies per 100 cells (group D). The others two groups comprised individuals that did not use orthosis (group A) and those that FCA was two times per week and DD <7 years (group C). CONCLUSION: Falls occur in roughly two-thirds of ambulatory HAM/TSP patients and are associated with significant morbidity. Further studies with a larger number of patients are necessarily to identify risk factors in order to elaborate specific programs to prevent falls in this population.
Assuntos
Acidentes por Quedas , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/epidemiologia , Adulto , Idoso , Brasil/epidemiologia , Estudos Transversais , Feminino , Infecções por HTLV-I/diagnóstico , Infecções por HTLV-I/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto JovemRESUMO
STUDY DESIGN: Cross-sectional. OBJECTIVES: To describe characteristics of low-back pain in human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) patients and to identify its neuropathic and/or non-neuropathic pain components. SETTING: A reference center for the care of patients with HAM/TSP in Rio de Janeiro, Brazil. METHODS: A total of 90 patients with HAM/TSP referred by tertiary care centers were consecutively assessed. The patients were submitted to a clinical protocol that included Visual Analogue Scale (VAS), Timed Up and Go Test, Bodily Pain Domain of the Short Form 36 Health Status Questionnaire, Douleur Neuropathique 4 Questions (Neuropathic Pain 4 Questions) (DN4) and McGill Pain Questionnaire. RESULTS: The prevalence of low-back pain in the studied sample was 75.5%; pain interferes with physical functioning and worsens with movement and physical effort. It can be relieved by analgesics and rest. Average pain intensity was 51.2 mm on VAS and 1.72 on DN4. The most frequent words used to describe low-back pain were throbbing, burning, jumping and aching. Surprisingly, 32.4% patients pointed the lower extremities as the most painful and used different descriptors. The most common drugs used were analgesics, nonsteroidal anti-inflammatory drugs and tricyclic antidepressants. CONCLUSIONS: Low-back pain in HAM/TSP patients has mainly nociceptive characteristics. Conversely, descriptors for lower extremities pain suggest a neuropathic origin.
Assuntos
Dor Lombar/fisiopatologia , Nociceptores/fisiologia , Paraparesia Espástica Tropical/complicações , Paraparesia Espástica Tropical/fisiopatologia , Adolescente , Adulto , Idoso , Brasil , Criança , Pré-Escolar , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Lactente , Recém-Nascido , Dor Lombar/epidemiologia , Extremidade Inferior/fisiopatologia , Masculino , Pessoa de Meia-Idade , Medição da Dor , Prevalência , Adulto JovemRESUMO
Angiotensin-converting enzyme (ACE) activity and polymorphism contribute significantly to the prognosis of patients with cardiomyopathy. The aim of this study was to determine the activity and type of ACE polymorphism in patients with familial and nonfamilial hypertrophic cardiomyopathy (HCM) and to correlate these with echocardiographic measurements (echo-Doppler). We studied 136 patients (76 males) with HCM (69 familial and 67 nonfamilial cases). Mean age was 41 ¡À 17 years. DNA was extracted from blood samples for the polymerase chain reaction and the determination of plasma ACE levels. Left ventricular mass, interventricular septum, and wall thickness were measured. Mean left ventricular mass index, interventricular septum and wall thickness in familial and nonfamilial forms were 154 ¡À 63 and 174 ¡À 57 g/m2 (P = 0.008), 19 ¡À 5 and 21 ¡À 5 mm (P = 0.02), and 10 ¡À 2 and 12 ¡À 3 mm (P = 0.0001), respectively. ACE genotype frequencies were DD = 35%, ID = 52%, and II = 13%. A positive association was observed between serum ACE activity and left ventricular mass index (P = 0.04). Logistic regression showed that ACE activity was twice as high in patients with familial HCM and left ventricular mass index ¡Ý190 g/m2 compared with the nonfamilial form (P = 0.02). No other correlation was observed between ACE polymorphisms and the degree of myocardial hypertrophy. In conclusion, ACE activity, but not ACE polymorphisms, was associated with the degree of myocardialhypertrophy in the patients with HCM.
Assuntos
Adulto , Feminino , Humanos , Masculino , Cardiomiopatia Hipertrófica/enzimologia , Peptidil Dipeptidase A/genética , Peptidil Dipeptidase A/metabolismo , Polimorfismo Genético/genética , Cardiomiopatia Hipertrófica Familiar/enzimologia , Cardiomiopatia Hipertrófica Familiar/genética , Cardiomiopatia Hipertrófica Familiar , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica , Ecocardiografia Doppler , Genótipo , Hipertrofia Ventricular Esquerda , Fenótipo , Índice de Gravidade de DoençaRESUMO
Angiotensin-converting enzyme (ACE) activity and polymorphism contribute significantly to the prognosis of patients with cardiomyopathy. The aim of this study was to determine the activity and type of ACE polymorphism in patients with familial and nonfamilial hypertrophic cardiomyopathy (HCM) and to correlate these with echocardiographic measurements (echo-Doppler). We studied 136 patients (76 males) with HCM (69 familial and 67 nonfamilial cases). Mean age was 41 +/- 17 years. DNA was extracted from blood samples for the polymerase chain reaction and the determination of plasma ACE levels. Left ventricular mass, interventricular septum, and wall thickness were measured. Mean left ventricular mass index, interventricular septum and wall thickness in familial and nonfamilial forms were 154 +/- 63 and 174 +/- 57 g/m(2) (P = 0.008), 19 +/- 5 and 21 +/- 5 mm (P = 0.02), and 10 +/- 2 and 12 +/- 3 mm (P = 0.0001), respectively. ACE genotype frequencies were DD = 35%, ID = 52%, and II = 13%. A positive association was observed between serum ACE activity and left ventricular mass index (P = 0.04). Logistic regression showed that ACE activity was twice as high in patients with familial HCM and left ventricular mass index >or=190 g/m(2) compared with the nonfamilial form (P = 0.02). No other correlation was observed between ACE polymorphisms and the degree of myocardial hypertrophy. In conclusion, ACE activity, but not ACE polymorphisms, was associated with the degree of myocardial hypertrophy in the patients with HCM.
Assuntos
Cardiomiopatia Hipertrófica/enzimologia , Peptidil Dipeptidase A/genética , Peptidil Dipeptidase A/metabolismo , Polimorfismo Genético/genética , Adulto , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica Familiar/diagnóstico por imagem , Cardiomiopatia Hipertrófica Familiar/enzimologia , Cardiomiopatia Hipertrófica Familiar/genética , Ecocardiografia Doppler , Feminino , Genótipo , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico por imagem , Masculino , Fenótipo , Índice de Gravidade de DoençaRESUMO
STUDY DESIGN: Cross-sectional. OBJECTIVES: The aim of this survey is to describe the disability profile in a group of tropical spastic paraparesis/HTLV-I-associated myelopathy patients, identifying the requirements for community ambulation. SETTING: Tertiary care unit, Rio de Janeiro, Brazil. METHODS: Seventy-two patients were assessed (49 female and 23 male), referred by tertiary care centers, when a clinical protocol was applied. RESULTS: The sample had an average age of 40 years and an average of 137 months of duration of the disease. The most prevalent aspects of disability found were in gait and sphincter control areas. A total of 72% of the patients were community ambulators and 17% were restricted to wheel chair. Age, strength and low-back pain interfere in activities of daily living (P<0.05). A positive correlation was found between community ambulation and the knee extensors (r=0.80) and ankle plantar flexors (r=0.74). Strength, age, low-back pain, duration of disease, asymmetric onset of the symptoms and spasticity interfered in the ability to walk (P<0.05). A rehabilitation program was proposed focusing on modifiable factors that affect disability level. CONCLUSION: It was possible to describe the profile of disability in this group of patients, identifying the requirements to the community ambulation.
Assuntos
Avaliação da Deficiência , Marcha/fisiologia , Leucemia-Linfoma de Células T do Adulto/fisiopatologia , Paraparesia Espástica Tropical/epidemiologia , Paraparesia Espástica Tropical/fisiopatologia , Atividades Cotidianas , Adulto , Brasil/epidemiologia , Estudos Transversais , Feminino , Humanos , Leucemia-Linfoma de Células T do Adulto/epidemiologia , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Paraparesia Espástica Tropical/psicologiaAssuntos
Esclerose Lateral Amiotrófica/virologia , Infecções por HTLV-I/complicações , Esclerose Lateral Amiotrófica/fisiopatologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Encéfalo/virologia , Linfócitos T CD8-Positivos/imunologia , Estudos de Coortes , Infecções por HTLV-I/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Degeneração Neural/patologia , Degeneração Neural/fisiopatologia , Degeneração Neural/virologia , Vias Neurais/patologia , Vias Neurais/fisiopatologia , Vias Neurais/virologia , Neurônios/patologia , Neurônios/virologia , Paraparesia Espástica Tropical/complicações , Paraparesia Espástica Tropical/fisiopatologia , Medula Espinal/patologia , Medula Espinal/fisiopatologia , Medula Espinal/virologia , SíndromeRESUMO
In hypertrophic cardiomyopathy (HCM), rupture of mitral chordae tendineae is infrequent and causes acute haemodynamic deterioration. A 38 year old male patient had chordae rupture leading to prolapse of both mitral leaflets and severe regurgitation, without change in symptomatic status. One year before, he had had mild mitral regurgitation and a resting left ventricle outflow tract of 105 mm Hg that disappeared in the present evaluation. In this unique case, worsening of mitral regurgitation was counterbalanced by total relief of the severe obstruction. This case report highlights the role of the mitral valve apparatus in the genesis of obstruction in HCM, further stimulating surgical techniques in which mitral repair can be the main procedure.
Assuntos
Cardiomiopatia Hipertrófica/complicações , Cordas Tendinosas , Ruptura Cardíaca/complicações , Prolapso da Valva Mitral/complicações , Obstrução do Fluxo Ventricular Externo/etiologia , Adulto , Ecocardiografia Transesofagiana , Ruptura Cardíaca/diagnóstico por imagem , Humanos , Masculino , Insuficiência da Valva Mitral/complicações , Prolapso da Valva Mitral/diagnóstico por imagem , Ruptura EspontâneaRESUMO
STUDY DESIGN: Survey. OBJECTIVE: To determine the disability profile of a group of patients with human T-cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), using the Functional Independence Measure (FIM) to identify the most affected functional areas. SETTING: Reference center for HTLV Rio de Janeiro, Brazil. METHODS: A total of 72 patients (49 female and 23 male), consecutively referred by tertiary care centers, were assessed using the FIM. RESULTS: The average FIM score was 108 (+/-12 SD) ranging from 58 to 122. The lowest items scores were obtained in locomotion and bladder management. When divided into two groups (above, and below or equal to the average score), there were significant differences (P<0.05) in age at time of assessment, in the degree of muscular power and in low back pain. There were no significant differences in terms of age of onset and duration of the disease. CONCLUSIONS: The most affected areas in FIM motor items were locomotion (walk and stairs) and bladder management. Age, strength in lower limbs and low back pain interfere with functional activities in patients with HAM/TSP. The duration of the disease is not a significant factor for patient disabilities. The goals of rehabilitation in HAM/TSP patients should target the modifiable factors, such as pain, strength and the neurogenic bladder.
Assuntos
Avaliação da Deficiência , Leucemia-Linfoma de Células T do Adulto/diagnóstico , Leucemia-Linfoma de Células T do Adulto/fisiopatologia , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/fisiopatologia , Atividades Cotidianas , Adolescente , Adulto , Fatores Etários , Idade de Início , Idoso , Dor nas Costas/etiologia , Feminino , Humanos , Leucemia-Linfoma de Células T do Adulto/epidemiologia , Masculino , Pessoa de Meia-Idade , Atividade Motora/fisiologia , Exame Neurológico , Paraparesia Espástica Tropical/epidemiologia , Bexiga Urinária/fisiopatologiaRESUMO
Foreign accent syndrome (FAS), a rare disorder characterized by the emergence of a new accent perceived as foreign by listeners, is usually reported with left brain damage. We here report the case of a 28-year-old native Brazilian who appeared, to the examiner, to show a North American accent during recovery from Broca's aphasia. The lesion was due to a frontal hematoma. Without referring specifically to speech, we asked 10 independent observers to comment on a videotape of the patient's interview. Seven reported that the patient had a foreign accent, while 3 simply noted a 'strange' accent. The observers did not agree on the origin of the accent, 5 identifying it as Spanish, 1 as German, and 1 as south Brazilian. These findings suggest that FAS is not due to the acquisition of a specific foreign accent, but to impairment of the suprasegmental linguistic abilities (tone, accent, pauses, rhythm, and vocal stress) that make it possible to distinguish native language.
Assuntos
Hemorragia Cerebral/complicações , Idioma , Distúrbios da Fala/etiologia , Comportamento Verbal/fisiologia , Adulto , Hemorragia Cerebral/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Distúrbios da Fala/patologiaRESUMO
BACKGROUND: Human T cell lymphotropic virus type 1 (HTLV-I) can cause tropical spastic paraparesis/HTLV-1 associated myelopathy (TSP/HAM) and adult T cell leukaemia/lymphoma. More recently other diseases such as isolated peripheral polyneuropathy, myopathy, artropathy, and uveitis have been associated with this retrovirus. Only a few uncontrolled studies, without necessary exclusion criteria, have described mild cognitive deficits among TSP/HAM patients. To further clarify this the authors evaluated, through neuropsychological testing patients with TSP/HAM and asymptomatic infected carriers, comparing both groups with healthy controls. OBJECTIVES: To verify the presence of cognitive deficits among TSP/HAM patients and asymptomatic HTLV-1 infected carriers. In addition, the authors aimed to investigate if these deficits correlated with the degree of motor impairment in TSP/HAM patients. METHODS: From a cohort of 501 HTLV-1 infected people the authors selected, according to predefined inclusion and exclusion criteria, 40 asymptomatic HTLV-1 carriers and 37 TSP/HAM patients. Neuropsychological testing was blindly performed in both groups and their scores were compared with those obtained from controls. RESULTS: Both the HTLV-1 carrier group and the group of patients with TSP/HAM exhibited a lower performance in neuropsychological tests when compared with controls. Asymptomatic infected carriers and TSP/HAM patients did not differ in their cognitive results. Also, there was no relation between the degree of motor disability and cognitive deficits in the TSP/HAM group. Psychomotor slowing and deficits in the some domains characterised the neuropsychological impairment in HTLV-1 infection: verbal and visual memory, attention and visuomotor abilities. CONCLUSIONS: TSP/HAM as well as asymptomatic infection can be associated with mild cognitive deficits. This finding, if confirmed by further studies, will permit the inclusion of cognitive impairment among the neurological manifestations of HTLV-1.
Assuntos
Portador Sadio/diagnóstico , Transtornos Cognitivos/diagnóstico , Infecções por HTLV-I/diagnóstico , Mielite/diagnóstico , Testes Neuropsicológicos/estatística & dados numéricos , Paraparesia Espástica Tropical/diagnóstico , Adulto , Brasil , Portador Sadio/psicologia , Transtornos Cognitivos/psicologia , Estudos de Coortes , Feminino , Infecções por HTLV-I/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Mielite/psicologia , Exame Neurológico/estatística & dados numéricos , Paraparesia Espástica Tropical/psicologia , Psicometria/estatística & dados numéricos , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/psicologia , Tempo de Reação , Reprodutibilidade dos TestesRESUMO
We present the case of a 15-year-old patient infected with HTLV-1 who developed a cutaneous T-cell lymphoma, confirmed by histopathological and immunohistochemical examination, as well as clinically and hematologically confirmed leukemia. The patient died 3 months after initial presentation of the disease. The rarity of the disease in this age group justifies the present report.
Assuntos
Leucemia-Linfoma de Células T do Adulto/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adolescente , Brasil , Evolução Fatal , Feminino , Humanos , Leucemia-Linfoma de Células T do Adulto/patologia , Neoplasias Cutâneas/patologiaRESUMO
The frequency and importance of dysautonomia in human T-cell lymphotrophic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) have not been fully investigated. We describe the characteristics of dysautonomia in such patients in a case-control study. Our results indicate that autonomic disturbances are more frequent in HAM/TSP than has been previously suggested, with a predominance of sympathetic nervous system dysfunction. In some of these patients, the symptoms may be severe enough to warrant specific treatment.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/epidemiologia , Paraparesia Espástica Tropical/diagnóstico , Paraparesia Espástica Tropical/epidemiologia , Adulto , Idoso , Brasil/epidemiologia , Estudos de Casos e Controles , Estudos de Coortes , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
To study the epidemiology of HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in Brazil, we conducted a nationwide survey between March 1994 and April 1995. Five centers from three regions of the country participated, enrolling 163 patients. Most patients came from the northeastern and southeastern regions (93.2%). Most enrollees were white women, 42.9% and 64.4%, respectively. The most common risk factors for infection included a history of venereal diseases (30.6%) and blood transfusion (21.6%). The median age at the beginning of the disease was 42 years. The main neurologic findings were spastic paraparesis, widespread brisk tendon jerks, bilateral Babinski's sign, and bladder dysfunction. Some interregional differences reached statistical significance. The ratio of females over males increased from south to north. In addition, in both southern and southeastern regions, whites prevailed, whereas in the northeast, mulattos predominated. This follows the normal distribution of the population in these regions. A significantly higher rate of venereal diseases was found in the southeast compared with the other regions studied. A history of intravenous drug use was more frequent among patients as the sample moves south. Finally, a fluctuating course of the disease was proportionally more frequent in the southern region.
Assuntos
Paraparesia Espástica Tropical/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Transfusão de Sangue , Brasil/epidemiologia , Aleitamento Materno , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Distribuição por Sexo , Comportamento Sexual , Fatores SocioeconômicosRESUMO
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6% in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30% of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.