RESUMO
Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory diseases of the central nervous system (CNS), which preferentially affect the optic nerves and the spinal cord. Anti-aquaporin 4 antibody is a specific serological marker. Systemic lupus erythematosus (SLE) is a rheumatologic disease that may affect the CNS. There are several reports about the coexistence of NMOSD and autoimmune diseases, mainly those of rheumatologic origin. We describe three different cases in which SLE and NMOSD subsequently occurred, drawing attention to the clinical heterogeneity, the challenge and the importance of recognizing this possible association.
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Lúpus Eritematoso Sistêmico , Neuromielite Óptica , Aquaporina 4 , Autoanticorpos , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Neuromielite Óptica/complicações , Neuromielite Óptica/diagnóstico , UniversidadesRESUMO
OBJECTIVES: To evaluate the correlation between dental plaque formation and gingival health in subjects performing high oral hygiene standards over short or extended intervals. MATERIALS AND METHODS: Fifty-two non-dental students volunteered for this study. The subjects, trained to perform high oral hygiene standards, were randomized to perform oral hygiene at 12-, 24-, 48-, or 72-h interval over 30 days. The plaque index (PlI) and the gingival index (GI) were evaluated at baseline, 15, and 30 days. For the statistical analysis, oral hygiene intervals were collapsed into daily (12 and 24 h; G12/24) and extended (48 and 72 h; G48/72) intervals. Summary statistics (mean ± SD) and Spearman correlations between the PlI and the GI at baseline, 15, and 30 days were estimated. RESULTS: At baseline, correlation coefficients between PlI and GI were positive for both groups (r = 0.29 and r = 0.25). At day 15 and 30, correlation was maintained with similar baseline values for the G48/72 group. GI levels did not increase despite an increase in PlI for the G12/24 group, and the correlation was lower than that observed at baseline (r = 0.13 vs. r = 0.29). CONCLUSIONS: In subjects with high oral hygiene standards, the oral hygiene frequency governs the correlation between dental plaque formation and gingival health. Subjects performing high oral hygiene standards at daily intervals will maintain gingival health in difference to subjects using extended hygiene intervals. CLINICAL RELEVANCE: Subjects performing high oral hygiene standards at daily intervals will maintain gingival health in difference to subjects using extended hygiene intervals.
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Placa Dentária/prevenção & controle , Gengivite/prevenção & controle , Higiene Bucal/métodos , Índice de Placa Dentária , Feminino , Humanos , Masculino , Índice Periodontal , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: This study describes the route followed by nursing in Brazil, through the foundation of nursing organizations and the emergence of nursing leaders and pioneers. AIM: To present the origins of modern nursing in Brazil, identifying the main nurse-leaders and analysing their performance for the creation and consolidation of the nursing organizations. METHODS: It is a historical and social study with descriptive approach, to describe the process of Brazilian nursing professionalization and leadership through a literature review. RESULTS: The oldest nursing organization is the Brazilian Nursing Association that holds scientific and cultural activities. There are also nurses' unions and nursing specialty associations, such as the Brazilian Academy for the History of Nursing, and the Federal Nursing Council. The latter has compulsory membership for controlling nursing services according to the qualifications of the personnel. The very first school for nurses in the Nightingale system was created in São Paulo, 1894, at the Samaritan Hospital, and by the government in 1923, in Rio de Janeiro, for which American nurses, led by Ethel Parsons, sponsored by the Rockefeller Foundation, were essential for the creation of the Anna Nery Nursing School, still in operation within a federal university. Some nurses pioneered these works such as Edith Fraenkel, Maria Rosa Pinheiro, Amalia Carvalho and others. CONCLUSION: The work done by nursing leaders has brought to the profession a better status and made it more recognized by the society.
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Escolas de Enfermagem/história , Sociedades de Enfermagem/história , Especialidades de Enfermagem/história , Brasil , História da Enfermagem , História do Século XIX , História do Século XX , História do Século XXI , HumanosRESUMO
INTRODUCTION: A great variety of foreign bodies in the lower urinary tract have been described; many of them are self-inflicted by the patient with masturbatory purposes. Depending on the nature of the foreign body the diagnostic and management might be challenging. AIMS: We report a case of an unusual magnetic self-inserted foreign body into the bladder for autoerotism and briefly discuss the diagnostic and therapeutic implications in this challenging situation. METHODS: We describe all the steps we have used to adequately diagnose the problem, describe the foreign body and treatments for the patient. Related articles were found by utilizing the PubMed database and are summarized in this study. RESULTS: The management approach must be planned according to the nature of the foreign body and should minimize bladder and urethral trauma. However, most of cases can be managed endoscopically. CONCLUSION: Removal of magnetic foreign body may be quite challenging, requiring high-level surgical skills and minimally invasive techniques resulting in fast recovery and low complication rate.
Assuntos
Literatura Erótica , Migração de Corpo Estranho/etiologia , Imãs/efeitos adversos , Masturbação , Uretra , Bexiga Urinária , Endoscopia/instrumentação , Migração de Corpo Estranho/diagnóstico , Migração de Corpo Estranho/cirurgia , Humanos , Masculino , Radiografia , Equipamentos Cirúrgicos , Resultado do Tratamento , Uretra/diagnóstico por imagem , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgia , Adulto JovemRESUMO
We performed a systematic review of the literature on venous thromboembolism (VTE) prophylaxis following cerebral infarct (CI) and haemorrhagic stroke. MEDLINE, Cochrane, LILACS and SciELO databases were scanned, and the Abstracts from Brazilian, American and European Neurology and Stroke Congresses were scrutinized for clinical trials. Moreover, the reference lists of articles and reviews were searched. A pooled analysis of two large studies with aspirin was made. Both unfractionated heparin and low molecular weight heparins/heparinoids (LMWH) are partially effective for VTE prophylaxis after CI, and should be routinely used in patients with motor deficit and reduced mobility and no contraindications. Reduction of deep venous thrombosis is better established than the effect over pulmonary embolism or mortality. Some evidence points to a greater efficacy of LMWH. The available evidence does not support the use of mechanical methods or dextran. Aspirin may have a mild protective effect. Low-dose Warfarin might be useful in the rehabilitation setting. Strict recommendations cannot be made in patients with haemorrhagic stroke but intermittent pneumatic compression merits further study. There are important limitations of current VTE preventive strategies following stroke. Additional studies on the combination of methods after CI and of low doses of anticoagulants following cerebral haemorrhage are urgently needed.
Assuntos
Embolia Pulmonar/prevenção & controle , Acidente Vascular Cerebral/tratamento farmacológico , Trombose Venosa/prevenção & controle , Humanos , Embolia Pulmonar/tratamento farmacológico , Embolia Pulmonar/etiologia , Acidente Vascular Cerebral/complicações , Trombose Venosa/tratamento farmacológico , Trombose Venosa/etiologiaRESUMO
BACKGROUND: A considerable number of patients develop stroke without involvement of the lower limb. However, there are few reports about the motor syndrome when the leg is spared. OBJECTIVE: To study clinical findings, causative factors, and lesion topography in stroke patients with a motor deficit sparing the leg. PATIENTS AND METHODS: We studied 895 patients with paresis sparing the leg from the 3,901 patients enrolled in the Lausanne Stroke Registry. They were compared with 1,644 stroke patients with paresis involving the leg, by means of univariate and multivariate analysis. RESULTS: Eight hundred forty-four infarcts (94.3%) and 51 hemorrhages (5.7%) led to weakness sparing the leg. Different sites of lesion were found, but the majority were caused by superficial infarcts. Almost half of the lesions were confined to superficial branches of the middle cerebral artery territory, with 276 (30.8%) in the anterior (superior) and 138 (15.4%) in the posterior (inferior) middle cerebral artery. More than half of the infarcts had a presumed embolic source from large-artery disease or from the heart. In comparison with patients with paresis involving the leg, patients without leg involvement had a lower prevalence of small-artery disease (P<.001), but a higher prevalence of migraine (P<.001), transient ischemic attack (P = .001), atherosclerosis without stenosis (P = .005), large-artery disease (P<.001), and left hemispheric strokes (P<.001). They also had a lower frequency of hemorrhagic stroke. CONCLUSIONS: Patients without leg involvement had different stroke lesions and causes and were characterized by more superficial infarcts mainly caused by emboli from large-artery disease and atherosclerosis without stenosis.
Assuntos
Hemorragia Cerebral/complicações , Infarto Cerebral/complicações , Perna (Membro) , Paresia/etiologia , Doenças Cardiovasculares/epidemiologia , Hemorragia Cerebral/diagnóstico , Hemorragia Cerebral/epidemiologia , Hemorragia Cerebral/fisiopatologia , Infarto Cerebral/diagnóstico , Infarto Cerebral/epidemiologia , Infarto Cerebral/fisiopatologia , Comorbidade , Feminino , Humanos , Infarto da Artéria Cerebral Média/fisiopatologia , Perna (Membro)/fisiopatologia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Debilidade Muscular/etiologia , Debilidade Muscular/fisiopatologia , Valor Preditivo dos Testes , Desempenho Psicomotor , Fatores de RiscoRESUMO
BACKGROUND: Stroke patterns in patients with different degrees of carotid stenosis have not been systematically studied. OBJECTIVE: To determine first-ever stroke subtypes in nonselected patients with extracranial internal carotid artery (ICA) stenosis, based on a primary care hospital stroke registry. METHODS: One hundred seventy-three patients who experienced their first-ever stroke and who had 50% or greater (North American Symptomatic Carotid Endarterectomy Trial method) ipsilateral extracranial ICA stenosis, corresponding to 6.5% of 2649 patients with anterior circulation stroke included in the Lausanne Stroke Registry, were studied. All these patients underwent Doppler ultrasonography, carotid angiography (conventional or magnetic resonance angiography), neuroimaging (computed tomography or magnetic resonance imaging), and other investigations from the standard protocol of the Lausanne Stroke Registry. RESULTS: We found the following types of infarct in the middle cerebral artery territory: anterior pial in 54 (31%) of the patients; subcortical, 34 (20%); posterior pial, 32 (19%); large hemispheral, 20 (12%); and border zone, 17 (10%). There were multiple pial in 14 (8%) and multiple deep infarcts in 2 (1%) of the patients. Moderate (50%-69%) ICA stenosis was significantly associated with large hemispheral infarcts and a normal contralateral ICA (P =.04 and P =.02, respectively). Seventy percent to 89% of ICA stenosis was associated with prior transient ischemic attacks (P =.02). After adjusting for cardioembolism, border zone infarcts showed a strong trend to appear mostly in patients with 90% to 99% ICA stenosis (P =.06). CONCLUSIONS: The association of a large hemispheral infarct with moderate ICA stenosis suggests a large embolism and/or an inadequate collateral supply. While an embolism may also contribute, the association of border zone infarcts with 90% to 99% ICA stenosis emphasizes the significance of hemodynamic disturbance in the pathogenesis of these types of infarct.
Assuntos
Artéria Carótida Interna , Estenose das Carótidas/complicações , Acidente Vascular Cerebral/etiologia , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Vasos Coronários , Embolia/complicações , Feminino , Humanos , Hipertensão/complicações , Masculino , Pessoa de Meia-Idade , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
BACKGROUND: Basilar artery occlusion (BAO) is associated with a high mortality rate, although cases with spontaneous favorable outcomes have recently been reported, and basilar artery stenosis (BAS) has received little consideration until now. OBJECTIVE: To study the prognostic clinical factors by testing numerous combinations of admission status characteristics of patients with brain ischemia caused by BAO or BAS. METHODS: We conducted a retrospective review from the Lausanne Stroke Registry (group 1) of patients with stroke or transient ischemic attack caused by BAS less than 50% or BAO as diagnosed by magnetic resonance angiography who were not treated by thrombolysis. Neurologic findings on admission were correlated with outcomes. We compared clinical patterns associated with poor outcomes in group 1 with those in patients with stroke who died from BAO or BAS (confirmed at autopsy) (group 2). RESULTS: Eighty-eight patients were studied. The outcomes of patients with stroke in group 1 (35/43) was poor (severe disability or death) in 54% of cases. A statistical analysis revealed that 4 factors-dysarthria, pupillary disorders, lower cranial nerve involvement, and consciousness disorders on admission-were strongly (P<.001) associated with poor outcomes. The multivariate analysis showed that the outcome was poor in 100% of cases in which consciousness disorders or the combination of the remaining 3 factors were present, whereas in the absence of these factors, a poor outcome was reported in only 11%. In 87% of the 45 patients with stroke in group 2, the same clinical patterns were present on admission. CONCLUSIONS: The prognosis of BAS greater than 50% or BAO is diverse and certain clinical characteristics seem to predict a lower risk of poor outcome. Their presence may help to decide the most suitable therapy.
Assuntos
Ataque Isquêmico Transitório/etiologia , Acidente Vascular Cerebral/etiologia , Insuficiência Vertebrobasilar/complicações , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Feminino , Humanos , Ataque Isquêmico Transitório/diagnóstico por imagem , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Insuficiência Vertebrobasilar/diagnóstico por imagemRESUMO
OBJECTIVE: To examine whether serum cholesterol levels have any prognostic value in the first month following acute ischemic stroke. BACKGROUND: Although the association between serum cholesterol levels and cerebrovascular disorders has been extensively studied, the relationship between cholesterol levels and outcome following ischemic stroke has not been investigated. METHODS: Using data from 3,273 consecutive patients with first-ever ischemic stroke, the authors compared poor functional outcome (severe disability or death) at 1 month in patients with high cholesterol (total serum cholesterol greater than 6.5 mmol/L or 250 mg/dL) and normal cholesterol (level equal to or less than 6.5 mmol/L or 250 mg/dL). Data were analyzed by univariate and multivariate analysis. RESULTS: In comparison with patients with normal cholesterol levels, patients with high cholesterol levels had a 2.2-fold lower risk of death (p = 0.002) and a 2.1-fold lower risk of poor functional outcome at 1 month (p < 0.001). After adjustment for known confounding variables, multivariate analysis showed that higher cholesterol levels remained an independent predictor of better functional outcome (OR 0.48, CI 0. 34 to 0.69, p < 0.001). CONCLUSIONS: The authors' findings suggest that higher levels of cholesterol are associated with a better outcome in the early phase after ischemic stroke.
Assuntos
Colesterol/sangue , Reabilitação do Acidente Vascular Cerebral , Idoso , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/mortalidade , Taxa de Sobrevida , Resultado do TratamentoRESUMO
OBJECTIVE: To determine whether TIAs have a neuroprotective effect. BACKGROUND: Ischemic tolerance or preconditioning, which protects the brain against stroke, has been demonstrated in animal models of cerebral ischemia. Because TIA may represent a clinical model of ischemic tolerance, patients with TIA before cerebral infarction (CI) may therefore have a better outcome than patients without TIA before CI. METHODS: A total of 2,490 patients admitted consecutively to a primary care center for first-ever CI in the anterior circulation were divided into two groups on the basis of the presence or absence of prior ipsilateral TIAs. Duration of TIA was classified into three groups (<10 minutes, 10 to 20 minutes, and >20 minutes). The severity of the neurologic picture on admission and functional disability after stroke were compared between patients with and without TIAs. RESULTS: A total of 293 (12%) of the 2,490 patients had prior ipsilateral TIAs before CI. Risk factors did not differ between patients with or without TIAs, whereas the topography and etiology of ischemic stroke did differ (p < 0.001). Patients without prior TIAs had a more severe clinical picture on admission, with a greater reduction of consciousness (p = 0.009). Patients with previous TIAs had a more favorable outcome than those without TIAs (67% versus 58%, p = 0.004). After adjustment for confounding variables, TIAs lasting 10 to 20 minutes were still associated with a favorable outcome (odds ratio, 1.98; 95% confidence interval, 1.27 to 3.08; p = 0.002). The interval between TIA and CI influenced the outcome (p = 0.007). CONCLUSIONS: This study suggests that ischemic tolerance may play a role in patients with ipsilateral TIAs before CI, allowing better recovery from a subsequent ischemic stroke.
Assuntos
Infarto Cerebral/fisiopatologia , Ataque Isquêmico Transitório/fisiopatologia , Idoso , Infarto Cerebral/etiologia , Feminino , Humanos , Ataque Isquêmico Transitório/psicologia , Precondicionamento Isquêmico , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Fatores de TempoRESUMO
The efficacy and tolerability of etodolac and piroxicam were compared in patients with osteoarthritis of the knee. Two hundred and twenty patients entered a double-blind, parallel group trial and were randomly assigned to receive 300 mg etodolac twice daily (n = 112) or 20 mg piroxicam once daily (n = 108) for 8 weeks. The etodolac group showed significant improvement (p less than 0.05) from baseline in all efficacy assessments at all evaluations. The piroxicam group showed improvement from baseline in all efficacy assessments at all evaluations except for erythema at Week 2. While mean change from baseline was similar for both groups, the patients' and physicians' final overall evaluations showed that the etodolac-treated patients improved slightly more from baseline than the piroxicam-treated patients. Twenty (18%) patients in the etodolac group reported at least one drug-related study event. In the piroxicam group, 16 (15%) patients reported at least one drug-related study event. Twelve (11%) etodolac-treated patients prematurely withdrew from the study. Of these, 7 had at least one adverse reaction. Two of the 12 patients withdrew because of lack of efficacy. Withdrawals from the piroxicam group were comparable. Thirteen (12%) patients withdrew, 6 of whom had at least one adverse reaction. One of these patients suffered a cardiovascular accident and died. Three patients withdrew because of lack of efficacy. The results of this study indicate that etodolac and piroxicam are comparable in efficacy and tolerability for the treatment of patients with osteoarthritis.
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Anti-Inflamatórios não Esteroides/uso terapêutico , Ácidos Indolacéticos/uso terapêutico , Articulação do Joelho , Osteoartrite/tratamento farmacológico , Piroxicam/uso terapêutico , Administração Oral , Adulto , Idoso , Anti-Inflamatórios não Esteroides/administração & dosagem , Anti-Inflamatórios não Esteroides/efeitos adversos , Método Duplo-Cego , Etodolac , Feminino , Humanos , Ácidos Indolacéticos/administração & dosagem , Ácidos Indolacéticos/efeitos adversos , Masculino , Pessoa de Meia-Idade , Osteoartrite/patologia , Osteoartrite/fisiopatologia , Piroxicam/administração & dosagem , Piroxicam/efeitos adversos , Amplitude de Movimento Articular , CaminhadaRESUMO
An open, multicentre trial was carried out in 140 patients with coxarthroxis and/or gonarthrosis to assess the effectiveness of treatment with diftalone. The trial lasted 4 weeks with a drug dosage decreasing from 1000 mg (Week 1) to 750 mg (Week 2), and to 500 mg (Weeks 3 and 4). In almost all of the objective and subjective assessments used for the measurement of effectiveness there was a statistically significant improvement with treatment, which was dose related, the greatest improvement being seen during the first week. Tolerance of treatment was assessed as good in the majority of patients and again, side-effects appeared to be dose related.
Assuntos
Osteoartrite/tratamento farmacológico , Piridazinas/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Avaliação de Medicamentos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Piridazinas/administração & dosagem , Piridazinas/efeitos adversos , Fatores de TempoRESUMO
The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.
Assuntos
Demência por Múltiplos Infartos/patologia , Mutação/genética , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular , Pele/patologia , Idoso , Biópsia , Encéfalo/patologia , Encéfalo/ultraestrutura , Artérias Cerebrais/patologia , Artérias Cerebrais/ultraestrutura , Análise Mutacional de DNA , Demência por Múltiplos Infartos/genética , Diagnóstico Diferencial , Feminino , Humanos , Músculo Liso Vascular/patologia , Músculo Liso Vascular/ultraestrutura , Receptor Notch3 , Receptores NotchRESUMO
The criteria for the confirmation of brain death (BD) using transcranial Doppler ultrasonography (TCD) state that flow should not be observed in the internal carotid artery (ICA). In 94 brain-dead patients examined by TCD, 19 (20%) had flow in the ICA despite cerebral circulatory arrest. There was no difference in the clinical characteristics of patients with or without isolated flow in the ICA. Shunting of blood from the ICA into the external carotid system or the arrest of blood flow at a higher level than the carotid siphon may explain our findings. Our results show that the current TCD criteria can result in a high rate of false negatives. We suggest that the TCD criteria for the diagnosis of brain death should be reviewed.
Assuntos
Morte Encefálica/fisiopatologia , Artéria Carótida Interna/fisiopatologia , Circulação Cerebrovascular/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo/fisiologia , Morte Encefálica/diagnóstico por imagem , Diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ultrassonografia Doppler TranscranianaRESUMO
Twelve patients with myotonic dystrophy were studied to look for the involvement of the peripheral nervous system in this disease. All of them showed the main signs and symptoms of the disease. They did not have another causes to justify a polineuropathy. They were submitted to sural nerve biopsy with counting of myelinated fibers and histogram. Patients showed a reduction in the number of myelinated fibers and in two patients the histogram was unimodal. We concluded that polineuropathy may be another multisystemic manifestation of myotonic dystrophy.
Assuntos
Distrofia Miotônica/complicações , Distrofia Miotônica/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/patologia , Nervo Sural/patologia , Adolescente , Adulto , Biópsia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The authors report the case of a 29 years old male patient presenting classical Guillain-Barré syndrome following head trauma. Only one other similar case is described in the literature. Head trauma as a precipitating event of the disease is discussed.
Assuntos
Traumatismos Craniocerebrais/etiologia , Polirradiculoneuropatia/complicações , Adulto , Humanos , MasculinoRESUMO
Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.
Assuntos
Doença de Charcot-Marie-Tooth/diagnóstico , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We studied the pathological findings of sural nerve biopsy in 41 patients with Charcot-Marie-Tooth (CMT) disease. They were previously classified by the median motor conduction velocity (MCV) in two types. Type I (demyelinating) with 9 patients and type II (axonal) with 32 cases. In type I we found loss of myelinated fibers (unimodal histogram), demyelinated and remyelinated axons with numerous onion bulb formations. In one case there was thickness of myelin with thin axons (axonal atrophy). In type II there were seven patients with normal sural nerve biopsy. In 25 cases there were mild to severe loss of myelinated fibers. In 5 patients the number of myelinated fibers was increased due to the great regeneration of the axons. The electron microscopic studies in type II showed in a few cases small onion bulbs and in one case axonal atrophy. In type I there was no correlation between clinical severity and the loss of myelinated fibers, but there was relationship between the low MCV and the intensity of myelinated fibers. In type II we did not found any correlation between clinical course, MCV and pathological findings.
Assuntos
Doença de Charcot-Marie-Tooth/patologia , Nervo Sural/patologia , Adulto , Axônios/patologia , Axônios/ultraestrutura , Biópsia , Feminino , Humanos , Microscopia Eletrônica , Fibras Nervosas Mielinizadas/patologia , Fibras Nervosas Mielinizadas/ultraestrutura , Nervo Sural/ultraestruturaRESUMO
Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.