ABSTRACT
ABSTRACT. Neurodegenerative diseases pose significant challenges due to their impact on brain structure, function, and cognition. As life expectancy rises, the prevalence of these disorders is rapidly increasing, resulting in substantial personal, familial, and societal burdens. Efforts have been made to optimize the diagnostic and therapeutic processes, primarily focusing on clinical, cognitive, and imaging characterization. However, the emergence of non-invasive brain stimulation techniques, specifically transcranial magnetic stimulation (TMS), offers unique functional insights and diagnostic potential. TMS allows direct evaluation of brain function, providing valuable information inaccessible through other methods. This review aims to summarize the current and potential diagnostic utility of TMS in investigating neurodegenerative diseases, highlighting its relevance to the field of cognitive neuroscience. The findings presented herein contribute to the growing body of research focused on improving our understanding and management of these debilitating conditions, particularly in regions with limited resources and a pressing need for innovative approaches.
RESUMO. As doenças neurodegenerativas representam desafio significativo por seu impacto na estrutura cerebral, função e cognição. À medida que a expectativa de vida aumenta, a prevalência dessas doenças cresce rapidamente, resultando em substanciais encargos pessoais, familiares e sociais. Esforços têm sido feitos para otimizar os processos diagnósticos e terapêuticos, com foco principal na caracterização clínica, cognitiva e de imagem. No entanto, o surgimento de técnicas de estimulação cerebral não invasivas, especificamente a estimulação magnética transcraniana (EMT), oferece compreensão funcional e potencial diagnóstico únicos. A TMS permite a avaliação direta da função cerebral, fornecendo informações valiosas inacessíveis por outros métodos. Esta revisão teve como objetivo resumir a utilidade diagnóstica atual e potencial da EMT na investigação de doenças neurodegenerativas, destacando sua relevância para o campo da neurociência cognitiva. As conclusões aqui apresentadas contribuem para o crescente corpo de investigação centrado na melhoria da nossa compreensão e gestão dessas condições debilitantes, particularmente em regiões com recursos limitados e necessidade premente de abordagens inovadoras.
ABSTRACT
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that mainly affects the motor system, resulting in progressive weakness and muscle wasting. Despite the tremendous advances in physiopathological and clinical characterization, we do not have a curative treatment yet. The progressive and fatal course of ALS makes its management particularly complex and challenging given the diversity of symptoms presenting during the disease progression. The main goal in the treatment of ALS patients is to minimize morbidity and maximize the quality of life. Currently, a series of therapeutic interventions improve the quality of life and prolong survival, including multidisciplinary care, respiratory management, and disease-modifying therapy. Within the supportive interventions, weight maintenance through nutritional and metabolic support is critical. In addition, the management of neuropsychiatric manifestations and preservation of communicative capacity before speech loss are also crucial. Lastly, early palliative care intervention is essential to optimize symptomatic management. Anticipatory guidelines to face the inevitable patient deterioration should be devised. This article updates the main therapeutic strategies used in these patients, including evolving clinical trials with promising novel therapies.
Subject(s)
Humans , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/psychology , Amyotrophic Lateral Sclerosis/therapy , Palliative Care , Patient Care Team , Quality of Life , Disease Progression , Neurodegenerative DiseasesABSTRACT
Fasciculations and cramps originate in the motor unit, a functional unit that includes the lower motor neuron and their innervated muscle fibres. Both are common complaints in outpatient practice. These symptoms can be secondary to neurological or medical pathology, presenting a broad differential diagnosis and a complex approach. Recent neurophysiological studies have increased the knowledge of their origin mainly in amyotrophic lateral sclerosis. The symptomatic management of fasciculations and cramps depends on their etiology and includes pharmacological and non-pharmacological treatments. This article aims to present an updated review of the most relevant aspects of physiopathology, clinical approach, and differential diagnosis of both phenomena.
Subject(s)
Humans , Fasciculation/diagnosis , Fasciculation/etiology , Fasciculation/therapy , Amyotrophic Lateral Sclerosis/complications , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/therapy , Electromyography/adverse effects , Motor Neurons/physiology , Muscle Cramp/diagnosis , Muscle Cramp/etiology , Muscle Cramp/therapyABSTRACT
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of acquired immune-mediated diseases, which typically involve the striated muscle with a variable involvement of the skin and other organs. Clinically, they are characterized by proximal muscle weakness, elevation of muscle enzymes, myopathic changes on electromyography and an abnormal muscle biopsy. The different IIM have been classified according to their distinctive histopathologic features in dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and immune-mediated necrotizing myopathy (IMNM). Several myositis-specific antibodies are associated with the different phenotypes, as well as with different risk of neoplastic disease and systemic complications. The basis for the treatment of DM, PM, and IMNM is immunosuppression. For IBM there are only symptomatic treatments. Steroids, associated or not with other immunosuppressant drugs, are the first line of treatment. Biologic drugs will allow future individualized therapies. The 10-year survival of DM, PM and IMNM is 62 to 90%. The leading causes of death are neoplastic, lung and cardiac complications. IBM does not impair survival, although it affects the quality of life.
Subject(s)
Humans , Myositis/pathology , Polymyositis/pathology , Muscle, Skeletal/pathology , Dermatomyositis/pathology , Electromyography , Immunosuppressive Agents/classification , Immunosuppressive Agents/therapeutic use , Antibodies , Myositis/drug therapySubject(s)
Humans , Electroencephalography , Brain , Propofol/administration & dosage , Time FactorsABSTRACT
El linfoma testicular es una patología infrecuente, correspondiendo al 9 por ciento de los cánceres testiculares, presentándose más frecuentemente entre los 60 a 80 años (25-50 por ciento). La presentación clínica más frecuente es el aumento de volumen unilateral e indo/oro. El tipo histológico más común es linfoma difuso de células grandes B (60-90 por ciento). La orquidectomía radical asociada a quimioterapia y radioterapia es la primera línea de tratamiento para los pacientes con enfermedad limitada. Material y método: Estudio retrospectivo descriptivo. Se revisó y filtró la lista de pacientes ingresados al SIGGES como tumor testicular entre enero 2005 a abril 2011. De los pacientes con diagnóstico histológico e inmunohistoquímico compatible, se registraron las características epidemiológicas, estudio, manejo y sobrevida. Posteriormente se realizó un análisis de la base de datos con el programa estadístico SPSS 13. 0. Resultados: De un total de 299 pacientes con el diagnóstico histológico de cáncer testicular, 8 pacientes fueron diagnosticados como linfoma testicular confirmado por histología e inmunohistoquímica. El promedio y mediana de edad fue 52 años y 63 años (18-73) respectivamente. Tres casos (37,5 por ciento) correspondieron a presentaciones secundarias. En 6 de los casos (75 por ciento) el testículo afectado fue el derecho. Histológicamente, el 63 por ciento correspondió a Linfoma difuso de células grande B. Clínicamente, el todos los casos se presentaron con aumento de volumen y con marcadores en rango normal. En 7 casos (8 7, 5 por ciento) el diagnóstico y manejo inicial fue mediante orquidectomía radical, y en un caso por biopsia testicular, con orquidectomía posterior 3 casos presentaron diseminación...
esticular lymphoma is a rare disease, happening in 9 percent of testicular cancers, most commonly between the ages 60 to 80 years (25 percent-50 percent). The most common presentation is unilateral indolent testicular growth. Histology shows a diffuse big B cell lymphoma in most of the cases (60 percent-90 percent). Radical orchiectomy, chemotherapy and radiation are the first line therapy for patients with limited disease. Materials and methods: Retrospective clinical study. We included and filtered the SIGGES list of patients admitted for Testicular Tumor from January 2005 to April 2011. Patients with a compatible diagnosis were analyzed, using SPSS 13.0® as statistical software. Result: Of a total number of 299 testicular cancer patients 8 presented with a histological and inmunnohistochemical testicular lymphoma. Mean age was 52 years and the median 63 years (18-73). ln three cases (37.5 percent) it was a secondary localization. ln 6 cases ( 75 percent) the affected testicle was the right one. 63 percent corresponded to a diffuse big cell B cell Lymphoma. All patients presented normal tumor markers. ln 7 (87,5 percent) cases the initial treatment was radical orchiectomy in one patient the diagnosis was don through a testicular biopsy, and the orchidectomy was differed. 3 cases presented dissemination. In 7 patients adjuvant chemotherapy was performed. Mortal/ty was 38 percent with a 1 7-month follow-up. Conclusion: Testicular lymphoma is a rare condition with bad prognosis. Histology is fundamental for treatment, an in this sense inmunohystochemcal analysis is especially helpful...