RESUMO
BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far. CONCLUSIONS: DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.
Assuntos
Estimulação Encefálica Profunda , Distonia , Distúrbios Distônicos , Proteínas Reguladoras de Apoptose/genética , Proteínas de Ligação a DNA/genética , Estimulação Encefálica Profunda/efeitos adversos , Distonia/genética , Distonia/terapia , Distúrbios Distônicos/genética , Distúrbios Distônicos/terapia , Humanos , Proteínas Nucleares/genéticaRESUMO
Contrast-induced encephalopathy (CIE) is a rare complication of the intravascular application of a contrast agent. CIE can be manifested by headache, cortical blindness, consciousness disorders, seizures, or focal neurological deficit. Neurological symptoms are typically transient with temporary abnormal findings on a brain scan. Urgent neuroimaging is important to obtain the correct diagnosis, especially in cases that require an acute management and treatment. We present a case of CIE after a digital subtraction angiography of the vertebral arteries in the patient with a symptomatic pre-occlusive stenosis of the posterior cerebral artery (Ref. 36). Text in PDF www.elis.sk Keywords: encephalopathy, iodixanol, contrast agent, cortical blindness, cerebral angiography.
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Encefalopatias , Meios de Contraste , Encefalopatias/diagnóstico , Encefalopatias/diagnóstico por imagem , Angiografia Cerebral , Meios de Contraste/efeitos adversos , Humanos , ConvulsõesRESUMO
BACKGROUND: The causes of the individual differences in the rate of disability progression in multiple sclerosis (MS) are still not completely clear. According to the long-term prognosis of MS patients, the search for new valuable prognostic markers of "benign" or "malign" MS is necessary. OBJECTIVES: Our aim was to assess the possible association of MS onset age with the disease disability progression rate in Slovak patients with MS. METHODS: By the unique pattern of evaluation of disability progression rate using Multiple Sclerosis Severity Score (MSSS), each of 270 MS patients was defined as slow-progressing, mid-rate progressing or rapidly progressing. RESULTS: We found a significant differences in the age at onset between MS patients with different rate of disability progression (p(K-W)<0,00005). The faster was a disability progression assessed by MSSS score, the higher was the MS onset age. CONCLUSION: We showed for the first time in Central European Slovak population that MS onset age is an early marker that is in the positive correlation with disease disability progression rate, evaluated by MSSS score. We conclude that relapsing-remitting MS patients older at clinical onset have a higher risk of unfavorable prognosis (Tab. 2, Fig. 1, Ref. 21).
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Esclerose Múltipla Crônica Progressiva , Esclerose Múltipla Recidivante-Remitente , Adulto , Idade de Início , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla , Prognóstico , Índice de Gravidade de Doença , Eslováquia , Adulto JovemRESUMO
Traumatic brain injury (TBI) remains a major public health and socio-economic problem, and 70-90% of all TBIs are classified as mild. Mild TBIs and concussions are mostly considered to be non-serious conditions with symptoms subsiding within a few days or weeks. However in 10-15% of patients, the symptoms persist one year after concussion and mostly include headache, fatigue, irritability, and cognitive problems (e.g. memory, concentration). These persisting symptoms negatively influence patient daily activities as postconcussion syndrome (PCS). Second-impact syndrome (SIS) is a very rare but usually fatal condition and occurs when repeated brain injuries lead to a catastrophic diffuse brain swelling. There is no scientific evidence on the incidence and risk of SIS. Chronic traumatic encephalopathy (CTE) is a progressive degenerative disease of the brain found in patients with a history of repetitive brain trauma. CTE presents with behavioural, cognitive, and motor symptoms. The literature to date lacks prospective epidemiological studies of the incidence of CTE. In recent medical literature, there is a description of 110 athletes with postmortem diagnosis of CTE (Tab. 1, Ref. 37).
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Lesões Encefálicas , Lesão Encefálica Crônica , Síndrome Pós-Concussão , Lesões Encefálicas/complicações , Lesões Encefálicas/fisiopatologia , Lesão Encefálica Crônica/etiologia , Lesão Encefálica Crônica/fisiopatologia , Feminino , Humanos , Masculino , Síndrome Pós-Concussão/etiologia , Síndrome Pós-Concussão/fisiopatologiaRESUMO
STUDY DESIGN: Case report. OBJECTIVES: We report on a 52-year-old male patient with tumefactive demyelination of the spinal cord. SETTING: University Hospital and Jessenius Faculty of Medicine, Comenius University, Martin, Slovakia. BACKGROUND: In contrast to relatively frequent tumefactive fulminant lesions in the brain, cases affecting the spinal cord in isolation have been reported less frequently. METHODS: Description of the case report. RESULTS: Clinical, neuroradiological and necropsy findings are described in a 52-year-old man with tumefactive fulminant demyelination of the spinal cord. Progression of the demyelination process produced paraplegia, mild paresis of the right upper limb, neurogenic bladder and sensitive loss over 2 weeks. MRI scans revealed several ovoid lesions in cervical segments and tumefactive T2-hyperintense signals with oedema and post-contrast enhancement located in thoracic segments Th3 to Th6. Cerebrospinal fluid (CSF) examination displayed lymphomonocytic pleocytosis with normal proteinorhachia, positive CSF oligoclonal IgG bands (OCB) and elevated IgG index (1.55). Serum anti-AQP4-Ab was not tested. Stored frozen CSF samples were later repeatedly examined with negative findings of anti-AQP4-Ab. Treatment with high-dose methylprednisolon and plasma exchange had limited effect. Immunosuppressive medication was interrupted because of an acute urinary infection. The patient died suddenly because of pulmonary embolism as a secondary complication. Histopathology of the spinal cord confirmed active demyelination. We considered that tumefactive demyelination could be a variant of neuromyelitis optica. CONCLUSION: Our case could be anti-AQP4-Ab-negative longitudinally extensive transverse myelitis, a variant of neuromyelitis optica.
Assuntos
Mielite Transversa/complicações , Traumatismos da Medula Espinal/complicações , Aquaporina 4/imunologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Mielite Transversa/líquido cefalorraquidiano , Mielite Transversa/patologia , Mielite Transversa/terapia , Fármacos Neuroprotetores/uso terapêutico , Bandas Oligoclonais/líquido cefalorraquidiano , Troca Plasmática , Medula Espinal/patologia , Traumatismos da Medula Espinal/líquido cefalorraquidiano , Traumatismos da Medula Espinal/patologia , Traumatismos da Medula Espinal/terapiaRESUMO
INTRODUCTION: Standard brain magnetic resonance imaging (MRI) is typically normal in most patients after mild traumatic brain injury (MTBI). Proton magnetic resonance spectroscopy (¹H-MRS) is more sensitive to detect subtle post-traumatic changes. The aim of the study was to evaluate the clinical correlations of these changes in the acute phase (within 3 days) after MTBI. METHODS: Twenty-one patients with MTBI and 22 controls were studied. Both groups underwent neuropsychological testing and single-voxel ¹H-MRS examination of both frontal lobes and upper brainstem. RESULTS: Significant decrease in NAA was found in both frontal lobes and in NAA/Cre ratio in the right frontal lobe (p < 0.05). Correlation analysis showed a correlation of NAA in the left frontal lobe with Backward Digit Span (p = 0.022) and Stroop test A (p = 0.0034) and a weak correlation with TMT B time (p = 0.046). The NAA/Cre in the right frontal lobe correlated with Stroop test A (p = 0.007) and with the total score of Digit Span (p = 0.016). Lower NAA was found in the upper brainstem (p = 0.0157) in the sub-group of patients with post-traumatic unconsciousness. CONCLUSIONS: This study found a correlation of ¹H-MRS metabolite changes with cognitive decline and presence or absence of loss of consciousness in the acute phase after MTBI.
Assuntos
Ácido Aspártico/análogos & derivados , Lesões Encefálicas/patologia , Transtornos Cognitivos/patologia , Creatina/metabolismo , Lobo Frontal/patologia , Espectroscopia de Prótons por Ressonância Magnética , Adulto , Ácido Aspártico/metabolismo , Biomarcadores/metabolismo , Lesões Encefálicas/complicações , Transtornos Cognitivos/etiologia , Feminino , Escala de Coma de Glasgow , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Sensibilidade e EspecificidadeRESUMO
Objective. Non-motor symptoms including those reflecting autonomic cardiovascular dysregulation are often present in Parkinson disease. It is unclear whether it is possible to detect cardiovascular autonomic dysregulation in the very early stage of Parkinson disease potentially supporting the concept of the upstream propagation of nervous system damage through autonomic nerves. We hypothesized that cardiovascular dysregulation should precede the motor symptoms and at the time of their occurrence autonomic dysregulation should be clearly demonstrable. Therefore, the aim of this study was to assess the various aspects of autonomic cardiovascular control in the very early stage of Parkinson disease.Approach. We performed prospective case-control study on 19 patients with Parkinson disease (<6 months after motor signs occurrence) and 19 healthy control subjects. For each phase of study protocol (supine, head-up tilt, supine recovery), we calculated a wide array of cardiovascular control related parameters reflecting cardiac chronotropic, cardiac inotropic and vasomotor control and baroreflex mediated cardiovascular response.Main results. We observed the well-preserved heart rate and blood pressure control in patients with early stage of Parkinson disease. However, causal analysis of interactions between heart rate and blood pressure oscillations revealed subtle differences in baroreflex function and baroreflex mediated vasoconstriction response to orthostasis. Furthermore, a tendency towards a decreased contraction strength in Parkinson disease was observed.Significance. Considering only subtle cardiovascular control impairment in our study employing a wide array of sensitive methods at the time when motor signs were clearly expressed, we suggest that motor signs dominated in this stage of Parkinson disease.
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Sistema Cardiovascular , Doença de Parkinson , Humanos , Estudos de Casos e Controles , Coração , Sistema Nervoso Autônomo , Sistema Cardiovascular/inervação , Pressão Sanguínea/fisiologia , Barorreflexo/fisiologia , Frequência Cardíaca/fisiologiaRESUMO
UNLABELLED: Carpal tunnel syndrome (CTS) is the most common form of peripheral nerve entrapment. Electromyography with selected nerve conduction studies (NCS) is an accepted diagnostic tool in CTS patients. Ultrasonography presents a widely available and low cost investigation method and its position in CTS diagnostics needs further clarification with concrete recommendations for clinical practice. A prospective study of 37 patients with 74 wrists (59 wrists with suspected CTS) was done. Normative data were obtained from a control group of 25 healthy persons (50 wrists) age and sex matched. All persons underwent ultrasonographic examination (median nerve cross-sectional area at carpal tunnel entrance measurement--CSA) and median NCS studies (distal motor and sensory latency measurement--DML and DSL). RESULTS: CSA has a sensitivity of 93% (CI 84-97%) and specificity of 96% (CI 87-99%) in our patients group. Conventional first-line NCS studies results in our patients groupare as follows: DML sensitivity 58% (CI 45-69%) and specificity 100% (CI 93-100%); DSL sensitivity 88% (CI 78-94%) and specificity 94% (CI 84-98%). CONCLUSION: We recommend the use of single-parameter wrist ultrasonography as a first-line screening laboratory method in suspected CTS diagnosis (Ref. 14). Full Text (Free, PDF) www.bmj.sk.
Assuntos
Síndrome do Túnel Carpal/diagnóstico por imagem , Articulação do Punho/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , UltrassonografiaRESUMO
OBJECTIVES: Disturbances in the hypothalamo-pituitary axis are supposed to modulate activity of multiple sclerosis (MS). We hypothesised that the extent of HYP damage may determine severity of MS and may be associated with the disease evolution. We suggested fatigue and depression may depend on the degree of damage of the area. METHOD: 33 MS patients with relapsing-remitting and secondary progressive disease, and 24 age and sex-related healthy individuals (CON) underwent 1H-MR spectroscopy (1H-MRS) of the hypothalamus. Concentrations of glutamate + glutamin (Glx), cholin (Cho), myoinositol (mIns), N-acetyl aspartate (NAA) expressed as ratio with creatine (Cr) and NAA were correlated with markers of disease activity (RIO score), Multiple Sclerosis Severity Scale (MSSS), Depressive-Severity Status Scale and Simple Numerical Fatigue Scale. RESULTS: Cho/Cr and NAA/Cr ratios were decreased and Glx/NAA ratio increased in MS patients vs CON. Glx/NAA, Glx/Cr, and mIns/NAA were significantly higher in active (RIO 1-2) vs non-active MS patients (RIO 0). Glx/NAA and Glx/Cr correlated with MSSS and fatigue score, and Glx/Cr with depressive score of MS patients. In CON, relationships between Glx/Cr and age, and Glx/NAA and fatigue score were inverse. CONCLUSION: Our study provides the first evidence about significant hypothalamic alterations correlating with clinical outcomes of MS, using 1H-MRS. The combination of increased Glu or mIns with reduced NAA in HYP reflects whole-brain activity of MS. In addition, excess of Glu is linked to severe disease course, depressive mood and fatigue in MS patients, suggesting superiority of Glu over other metabolites in determining MS burden.
Assuntos
Depressão/metabolismo , Fadiga/metabolismo , Hipotálamo/metabolismo , Esclerose Múltipla Crônica Progressiva/metabolismo , Esclerose Múltipla Recidivante-Remitente/metabolismo , Adulto , Envelhecimento/metabolismo , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Estudos de Casos e Controles , Colina/metabolismo , Creatina/metabolismo , Estudos Transversais , Depressão/diagnóstico por imagem , Avaliação da Deficiência , Fadiga/diagnóstico por imagem , Fadiga/psicologia , Feminino , Ácido Glutâmico/metabolismo , Humanos , Hipotálamo/diagnóstico por imagem , Inositol/metabolismo , Masculino , Esclerose Múltipla Crônica Progressiva/diagnóstico por imagem , Esclerose Múltipla Crônica Progressiva/psicologia , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/psicologia , Espectroscopia de Prótons por Ressonância Magnética , Escalas de Graduação Psiquiátrica , Índice de Gravidade de DoençaRESUMO
Mild brain injury is one of the most common neurological a neurotraumatological diagnoses. The pathophysiological basis of mild brain injury is frequently a diffuse axonal damage of variable degree. In the acute phase of mild brain injury we have to identify 1% of patients who will undergo neurosurgery because of vital need. The analysis of patient's personal history, screening of risk factors, neuropsychological testing and imaging methods (CT, MRI) are irreplaceable in the diagnostic process of mild brain injury. Though the mild brain injury is currently considered as an irrelevant traumatic event, approximately 10% of patients develop the so-called post-concussion syndrome.
Assuntos
Concussão Encefálica , Concussão Encefálica/diagnóstico , Concussão Encefálica/fisiopatologia , Concussão Encefálica/terapia , Lesão Axonal Difusa/diagnóstico , Lesão Axonal Difusa/etiologia , Lesão Axonal Difusa/fisiopatologia , HumanosRESUMO
Extrapyramidal system, a rich network of nerve and glial cells consists of subcortical and cortical grey matter. The system serves as an integrator of unaware, automatic, repeated, spontaneous, complicated and purposeful motor samples. Muscle tone regulation and its distribution is another decisive extrapyramidal function. This review article concerns to some degradation mechanisms in extrapyramidal system, as either the programmed cell death or apoptosis. The physiologic extracellular decreasing signals creating apoptosis (nerve growth factor--fall) are either genetically expressed or there are neuropathophysiologic processes that may activate pathways leading to apoptosis, namely oxidative stress, glutamate toxicity and calcium homeostasis disruption. The level of dopamine transporter expression (mRNA, methyl-phenyl-pyridinium) might determine the vulnerability of the nigral neurons to the Parkinsonian insult. The most common clinical picture of extrapyramidal disorder-Parkinson's disease-consists of an active dopamine cell death-apoptosis, which is partially programmed like as programmed cell death and partially accidentally installed chain of events. Without morphological criteria, biochemical indicators such as laddered DNA fragmentation pattern and/or the requirement for macromolecular synthesis merely suggest but do not provide unequivocal evidence for apoptosis. There are either genetic or acquired conditions creating unbalance of Bax/Bcl-2 families-proapoptotic and prooncogenic factors, respectively. The first Bax gene cooperates with other genes coding the new transmembrane proteins into the mitochondrial megapores determinating transition by means of death receptors. Bcl-2 codes prooncogenic mitoses and tissue proliferation. The neuroprotective hypothesis of the dopamine agonist action is a very attractive working hypothesis and some of its tenets are derived from the oxidative stress hypothesis for neurodegeneration, but this hypothesis is still controversial.
Assuntos
Córtex Cerebral/patologia , Doença de Parkinson/patologia , Doença de Parkinson/fisiopatologia , Idoso , Animais , Apoptose , Córtex Cerebral/fisiopatologia , Humanos , Neuroglia/patologia , Neuroglia/fisiologia , Neurônios/patologia , Neurônios/fisiologia , Estresse Oxidativo , Doença de Parkinson/genéticaRESUMO
Quantitative electromyography (EMG) usage in daily clinical medicine can exclude the investigation results influencing by the electromyographer's subjective factor in needle EMG. The aim of our study was to compare the diagnostic efficiency of these quantitative EMG methods which have found some more consistent application in routine neurologic practice. We have investigated 35 healthy subjects and 59 patients with two basic types of neuromuscular disorders (neuropathies and myopathies) by means of four quantitative EMG methods: 1--modified Buchthal's low threshold MUAPs (motor unit action potentials) analysis; 2--interference EMG pattern Dorfman's and McGill's limited decomposition; 3--interference EMG pattern spectral analysis; 4--interference EMG pattern turns-amplitude analysis. In results analysis parameter's 95% confidence intervals were calculated by Campbell and Gardner and the difference between three subject groups (controls, neuropathies, myopathies) was evaluated by special multidimensional statistics (Hotelling T2 test) using simultaneously all tested parameters of four quantitative EMG methods. The modified Buchthal's low threshold MUAPs analysis was the most effective method in discovering neuropathy and myopathy with area as the best discriminating parameter. The diagnostic power in neuropathies may be increased using selected quantitative EMG methods or theirs individual parameters combinations. Several aspects of applyied quantitative EMG methods and aquired data statistical analysis are discussed.
Assuntos
Eletromiografia/métodos , Eletromiografia/normas , Músculo Esquelético/fisiopatologia , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/fisiopatologia , Potenciais de Ação , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de ReferênciaRESUMO
Sympathetic skin response (SSR) represents a potential generated in skin sweat glands; it originates by activation of the reflex arch with different kinds of stimuli. The potential of rapid habituation after repeated stimuli is formed by biphasic or triphasic slow wave activity with relatively stable latency and variable amplitude. In healthy subjects younger than 60 years of age the response is always present in all extremities. SSR is most frequently used in diagnosing the functional impairment of non-myelinated postganglionic sudomotor sympathetic fibers in peripheral neuropathies. In this study a more complex and informative view on the anatomical and physiological substrates of SSR, its character, normal values and technique are presented, focusing on problems in evaluation of the response and factors that have influence on it. Based on personal experience normative latency and amplitude values of SSR in a group of 20 healthy individuals (x +/- SD), upper extremities: 1.48 +/- 0.80 sec., 444 +/- 167 microV, respectively; lower extremities: 2.06 +/- 0.93 sec., 203 +/- 87.4 microV, respectively) and recommendations for qualitative evaluation preference--the presence or absence of the response--over quantitative evaluation of latency and amplitude of the response in practical clinical use of the method are presented. (Tab. 1, Fig. 2, Ref. 148.).
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Doenças do Sistema Nervoso Autônomo/diagnóstico , Resposta Galvânica da Pele , Reflexo/fisiologia , Pele/inervação , Sistema Nervoso Simpático/fisiologia , Adolescente , Adulto , Estimulação Elétrica , Eletromiografia , Potenciais Somatossensoriais Evocados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tempo de Reação , Reprodutibilidade dos Testes , Glândulas Sudoríparas/inervaçãoRESUMO
Chronic alcoholism is a medical, economical and social problem. Motility and mental function disorders are among the complications of chronic alcoholism and have been known for more than two centuries as "alcoholic paralysis", and are caused by alcoholic neuropathy. The pathogenesis of alcoholic neuropathy does not appear to be identical with central nervous system disorders which are caused by chronic alcoholism and it seems that it results from a failure of the protection barrier systems in the peripheral nervous system. To the pathogenesis of alcoholic neuropathy includes: 1. direct toxic effects of alcohol on the cellular population of the central nervous system and other tissues, especially of parenchymatous organs (in particular of the liver), 2. indirect metabolic and exotoxic changes mediated by malabsorption, maldigestion and secondary caloric and energy deprivation, 3. effects of genetic factors. (Fig. 2, Ref. 23.)
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Neuropatia Alcoólica/fisiopatologia , Neuropatia Alcoólica/etiologia , Etanol/farmacocinética , Etanol/farmacologia , Humanos , Absorção Intestinal/efeitos dos fármacos , Distúrbios Nutricionais/complicações , Fatores de RiscoRESUMO
BACKGROUND: Conservative treatment of overactive bladder employes behavioral or invasive neuromodulatory inhibition of miction reflex and administration of anticholinergic drugs. MAIN PURPOSE: The aim of this study was to use non-invasive stimulation of the tibial nerve with the intention to achieve desired therapeutic effects without iatrogenic nerve damage using a superficial electrostimulation. METHODS: All patients suffered from overactive bladder (OAB) without bladder outlet obstruction. OAB was examined by the Behavioral urge score BUS (0.0--the best and 1.0--the worst score), the International prostate symptom score IPSS (0--the best and 35--the worst score) and the Incontinence quality of life questionnaire IQOL (0.0--the worst and 1.0--the best index). The patients were divided into 3 groups: Group I--patients with electrode attached behind the medial ankle of the left lower extremity. The intensity of stimulation corresponded to 70% of the maximum amplitude of response from musculus abductor hallucis. Frequency of stimulation was 1 Hz and duration of the square impulse was 0.1 ms. Surface stimulation lasted 30 minutes and was repeated once a week. Group II--patients were treated by oral oxybutynin 5 mg t.i.d. Group III--patients without treatment. The BUS, IPSS, and IQOL were repeated after the treatment. RESULTS: The study included 28 females of average age 54 year (range 45 to 63). Mean IPSS was 17 (range 12 to 21), mean index of quality of life IQOL was 30 (range 12 to 78) and mean BUS score was 0.68 (range 0.50 to 0.86). Group I with stimulation did achieve statistically significant changes following the treatment: decrease of mean IPSS from 17 +/- 3 points to 6 +/- 4 points after the treatment, increase in mean IQOL from 36 +/- 10 to 68 +/- 20 and decrease of mean BUS from 0.65 +/- 0.12 to 0.43 +/- 0.16. Group II had similar statistically significant differences after the treatment of OAB. Group III noted no changes in the complaints. CONCLUSION: Noninvasive stimulation had improved subjective symptom related to overactive bladder, had no adverse events and was well tolerated. (Fig. 1, Tab. 1, Ref. 18.).
Assuntos
Nervo Tibial , Estimulação Elétrica Nervosa Transcutânea , Transtornos Urinários/terapia , Feminino , Humanos , Pessoa de Meia-Idade , Qualidade de VidaRESUMO
The discussion about the supporting task of four main active oxygen dependent mechanisms mediating and modulating immune signals was included in the work, along with the discussion on antioxidants influencing these mechanisms. The former include xanthine-oxidase, cyclooxygenase, lipoxygenase, aldehyde oxygenase metabolic chains. Currently, we are just beginning to realize that active oxygen and antioxidants can modulate the induction of physiological signals, and that these effects are not limited to the immune system. The effects of antioxidant treatment could represent neutralization of harmful radicals, albeit they can simply represent modulation of complex biochemical events which are essential parts of normal metabolism. Some natural antioxidants, e.g. alfa-to-copherol, ascorbic acid and beta-carotens are very good means of the primary prevention, but with acute failure of local antioxidants, they do not prevent the excessive production of proliferative inflammatory tissue. Tirilazad-mesylate has threefold beneficial influences: first as an inhibitor of the creation of oxygen radicals, second as a scavenger or quencher of free oxygen radicals, and finally in the arrangement of the defects in the phospholipid bilayer and possible receptors of macrophages, as well as T cells. The drug is suitable for active modulation of locally changed immune reactions and thus it rejects harmful proliferative inflammation in the subdural space. Until recently it has been eliminated by surgical procedure. The authors expel the thick (0.8 cm) subdural collection of the proliferative inflammatory product by tandem treatment which includes methylprednisolon+tirilazad-mesylate for three days, followed by fourteen days of methylprednisolon, which was gradually decreased in daily oral doses. This is a revolutionary change in the treatment of similar intracranial processes. (Fig. 4, Ref. 21.)
Assuntos
Antioxidantes/uso terapêutico , Sequestradores de Radicais Livres/uso terapêutico , Pregnatrienos/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Edema Encefálico/diagnóstico por imagem , Edema Encefálico/imunologia , Edema Encefálico/terapia , Humanos , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , RadiografiaRESUMO
OBJECTIVE: There is an evidence of central nervous system (CNS) involvement in diabetic patients. The aim of the study was to determine a conduction slowing in CNS pathways using a transcranial magnetic stimulation (TMS) and F-wave latency measurement. METHODS: Diabetic patients and a control group, both without clinical symptoms and signs of CNS lesion were evaluated. Motor evoked potentials were recorded from upper and lower extremities and central conduction time (CCT) was calculated according to formula: CCT = MEP-[0.5x(F-M-1)+M]. Obtained results and data from literature were compared. RESULTS: There was a significant prolongation of CCT recorded from lower extremities. The prolongation of CCT recorded from upper extremities was not statistically significant. Our results correlate with previously published data. CONCLUSION: In spite of missing clinical signs of CNS lesion in diabetic patients, a significant prolongation of CCT compared to control group and literature data was recorded. We assume a presence of diffuse subclinical CNS lesion induced by metabolic changes in DM. Difference between CCT obtained from upper and lower extremities implicate, that changes are analogical to peripheral neuropathies ("central length-dependent injury?"). Measurement of CCT using TMS could become a complementary electrophysiological method for assessment of subclinical CNS involvement in diabetic patients. (Tab. 4, Ref. 17.)
Assuntos
Doenças do Sistema Nervoso Central/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Neuropatias Diabéticas/diagnóstico , Estimulação Magnética Transcraniana , Adolescente , Adulto , Vias Eferentes/fisiopatologia , Eletromiografia , Potencial Evocado Motor , Extremidades/inervação , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tempo de ReaçãoRESUMO
The authors present a case report of 26 years old man with bilateral optic nerve neuropathy. Detection of heteroplasmic mutation of mitochondrial DNA at G3460A site confirmed the suspicion on Lebers hereditary optic nerve neuropathy (LHON). Genetic and environmental factors of the disease and various accompanying neurologic and other symptoms, which can together with the optic nerve defect participate in the development of of the LOHN clinical pattern are discussed. (Ref. 12.)
Assuntos
Atrofias Ópticas Hereditárias , Adulto , Humanos , Masculino , Atrofias Ópticas Hereditárias/diagnóstico , Atrofias Ópticas Hereditárias/genéticaRESUMO
BACKGROUND: Leber's hereditary neuropathy of the optic nerve (LHON) is manifested by bilateral affection of the eyes with acute or subacute loss of vision. The disease is caused by point mutations in the mitochondrial DNA (mtDNA) and is one of the most frequent mitochondrial diseases in the population. In patients with LHON 18 different point mutations in the mtDNA were described which correlate partly with the rate of progression of the disease and the severity and prognosis of the final affection of vision. METHODS AND RESULTS: The submitted paper deals with the results of molecular genetic examinations in three families with clinical manifestations of LHON. In three patients in the first family a homoplasmic mutation of mtDNA G3460A was found. In the second family in a young man with severely impaired vision a heteroplasmic mutation G3460A was found associated with a higher ratio of mutated mtDNA molecules than in his mother who is clinically healthy. In the third family the presence of homoplasmic mutation of mtDNA in position G11778A was detected. CONCLUSIONS: The diagnosis of LHON and genetic counselling in affected families should be based on close collaboration of ophthalmological and genetic departments with specialized laboratories engaged in molecular biological diagnosis of mitochondrial diseases.