Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile / Atrofia muscular espinal en Chile, resultados de un programa de atención médica nacional

ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.

Estudio de confirmación diagnóstica de esclerosis lateral amiotrófica, del hospital clínico Herminda Martín, entre los años 2006 y 2018 / Study of the time of diagnostic confirmation and survival of amyotrophic lateral sclerosis, from the hospital clinico Herminda Martín, between 2006 and 2018

ANTECEDENTES: Esclerosis lateral amiotrófica (ELA), enfermedad neurodegenerativa que afecta motoneuronas superiores e inferiores. Con un tiempo promedio de confirmación diagnóstica de 15,6 meses y una supervivencia a 3 años del diagnóstico del 50%. Existe escaso conocimiento de sintomatología inicial, produciendo retraso diagnóstico. OBJETIVOS: Determinar el tiempo de confirmación diagnóstica en pacientes con ELA, del HCHM entre 2006-2018, Identificar síntomas iniciales, determinar tiempo de supervivencia global y por sexo. MÉTODOS: Estudio longitudinal descriptivo analítico del tiempo de diagnóstico; síntomas primarios: i)trastornos motores; ii)trastornos de lenguaje y/o deglución; iii) ambos; y supervivencia de pacientes con ELA del HCHM entre 2006-2018. RESULTADOS: Entre 2016-2018 se diagnosticaron 19 pacientes con ELA, 47% mujeres (9) y 53% hombres (10); edad promedio al diagnóstico de 61,44 y 59,30, respectivamente. El tiempo de confirmación diagnóstica en mujeres fue 17,56 (ES ± 0,71) semanas y en hombres 34,80 (ES ± 0,68) semanas. En mujeres la frecuencia de diagnósticos primarios: 78% trastornos motores; 11% trastornos de lenguaje y/o deglución; 11% ambos, en hombres: 30% trastornos motores; 20% trastornos de lenguaje y/o deglución; 50% ambos. La media de supervivencia global fue 6,5 años. CONCLUSIONES: Existe diferencia significativa entre síntomas iniciales y según sexo, con predominio motor en mujeres y mixto en hombres. No existen diferencias significativas en tiempos diagnósticos ni supervivencia en ambos grupos, se destaca que sobrevivió el 50% de mujeres a los 7,2 años y 50% de hombres a los 6,3 años. No se diferencia un perfil clínico inicial.

BACKGROUND: Amyotrophic lateral sclerosis (ALS), neurodegenerative disease that affects the upper and lower motor neurons. With an average diagnostic confirmation time of 15,6 months and a 3-year survival from diagnosis of 50%. There is poor knowledge of initial symptoms, causing diagnostic delay. OBJECTIVES: To determine the diagnostic confirmation time in patients with ALS of HCHM between 2006-2018, Identify initial symptoms, determine overall survival time and by sex. METHODS: Descriptive analytical longitudinal study of diagnosis time; primary symptoms: i) motor disorders; ii) language and / or swallowing disorders; and iii) both; and survival of patients with ALS from HCHM between 2006-2018. RESULTS: Between 2016-2018, 19 patients with ALS were diagnosed, 47% women (9) and 53% men (10); average age at diagnosis of 61.44 and 59.30, respectively. The diagnostic confirmation time in women was 17.56 (ES ± 0.71) weeks and in men 34.80 (ES ± 0.68) weeks. In women, the frequency of primary diagnoses: 78% motor disorders; 11% language and / or swallowing disorders; 11% both, in men: 30% motor disorders; 20% language and / or swallowing disorders; 50% both. The mean overall survival was 6.5 years. CONCLUSIONS: There is a significant difference between initial symptoms and according to sex, with motor predominance in women and mixed in men. There are no significant differences in diagnostic times or survival in both groups, it is emphasized that 50% of women survived at 7.2 years and 50% of men at 6.3 years. An initial clinical profile is not differentiated.

Papel do receptor B2 de cininas na terapia da neurodegeneração dopaminérgica em modelo animal / Targeting Kinin-B2 receptors for the treatment of dopaminergic neurodegeneration in an animal mode

A Doença de Parkinson (DP) é um distúrbio neurodegenerativo, caracterizada em parte pela perda de neurônios dopaminérgicos da via nigroestriatal, originada na substância negra com projeções para o estriado, causando vários déficits motores. Atualmente, o tratamento mais utilizado é a administração de L-DOPA, um análogo da dopamina. Porém, essa droga apresenta eficácia limitada e induz diversos efeitos colaterais. A exploração dos efeitos neuroprotetores, proliferativos e neuroregenerativos da bradicinina (BK) em modelo animal de DP pode conduzir à substituição celular do tecido lesionado pela 6-hidroxidopamina (6-OHDA). De fato, a BK e seus receptores possuem um grande espectro de ações fisiológicas, estando classicamente envolvida no controle da homeostase cardiovascular e inflamação, além de exercer efeitos protetores em fisiopatologias do sistema nervoso, como em modelos de acidente vascular cerebral. Vários tipos celulares têm suas vias de sinalização associadas à ativação do receptor B2 de cininas (B2BKR). Trabalhos anteriores de nosso grupo mostraram que a BK está envolvida na diferenciação neural de células progenitoras neurais por um loop autócrino que resulta em ativação do B2BKR. Os resultados apresentados neste trabalho mostram a eficácia do tratamento com BK, um agonista de B2BKR, em animais submetidos à lesão da via nigro-estriatal induzida por 6-OHDA. Além disso, há uma recuperação comportamental e histológica desses animais quando tratados com Captopril®, um potencializador dos efeitos farmacológicos da BK, e com [Phe8Ψ(CH-NH)Arg9]-Bradicinina, agonista estável do receptor B2BKR. Assim, concluímos que a ativação de B2BKR pela BK desencadeiaum processo de neuroregeneração dopaminérgica de animais submetidos à lesão por 6-OHDA. Trabalhos recentes mostram que o receptor B2BKR desempenha um importante papel neuroprotetor em modelo animal da Doença de Alzheimer, o que corrobora nossos achados. Juntos, esses resultados contribuem para o estabelecimento da ação neuroprotetora e neurorregenerativa da BK no modelo de animal de neurodegeneração dopaminérgica, tornando-a uma excelente candidata para aplicação em terapias de reparo neuronal

Parkinson's disease (PD) is a neurodegenerative disorder partially characterized by the loss of dopaminergic neurons from the nigrostriatal pathway, originated in the substantia nigra with projections to the striatum, which causes several motor deficits. Currently, the most commonly used drug for PD treatment is levodopa. However, it has limited efficacy and induces several side effects. Elucidation of the neuroprotective, proliferative and neuroregenerative effects of bradykinin (BK) in animal models of PD can culminate in cellular replacement of the tissue damaged by 6-hydroxydopamine (6-OHDA). In fact, BK and its receptor have several physiological effects, being classically involved in the control of cardiovascular homeostasis and inflammation. Besides, BK exerts protective effects on nervous system pathophysiology, as observed in stroke models. Several cell types have their signaling pathways associated with the B2 kinin receptor (B2BKR) activation. Previous work from our group showed that BK is involved in differentiation of neural progenitor cells by an autocrine loop that results in activation of B2BKR. The results presented in this thesis show the efficacy of treatment with BK, through B2BKR activation, in animals submitted to nigrostriatal pathway injury induced by 6-OH dopamine. Furthermore, behavioral and histological recoveries of these animals were observed when treated with Captopril®, a potentiator of BK pharmacological effects, and with [Phe8Ψ (CH-NH) Arg9] -BK, a stable agonist of the B2BKR receptor. Thus, we conclude that BK activation of B2BKR triggers neuroregenerative processes in animals submitted to 6- OHDA injury. Recent studies showed that the B2BKR receptor plays an important neuroprotective role in an animal model of Alzheimer's disease, which corroboratesour findings. Together, these results contribute to the establishment of the neuroprotective and neuroregenerative actions of BK - an excellent candidate for neural repair therapies

Cognitive dysfunction in corticobasal degeneration / Disfunção cognitiva na degeneração corticobasal

ABSTRACT Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. Since then, different phenotypic presentations have emerged as possible manifestations of CBD histopathological findings. In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. Thus, not only the spectrum of what is currently designated as CBD has expanded, but overlap with other degenerative and even secondary disorders has made clinical diagnostic certainty even more challenging in the absence of specific and readily-available markers. Cognitive deficits in CBD are now recognized as a frequent initial presentation and may appear up to eight years before the motor symptoms, depending on the phenotypic variant. Characteristic cognitive features of CBD involve language deficits, visuospatial and executive dysfunctions, apraxia, and behavioral disorders. Semantic and episodic memories are usually preserved, while language is often impaired in the early stages.

RESUMO A degeneração corticobasal (DCB) foi originalmente descrita como uma entidade clínico-patológica distinta em 1967. Desde então, nossa compreensão sobre DCB evoluiu substancialmente. Diferentes apresentações fenotípicas emergiram refletindo possíveis manifestações das anormalidades histopatológicos da DCB. Adicionalmente, dados fisiopatológicos e moleculares foram delineados e aspectos das manifestações cognitivas foram explorados. Assim, não só o espectro do que é atualmente designado DCB foi expandido, mas a sobreposição com outras doenças degenerativas e até mesmo secundárias tornaram o diagnóstico clínico ainda mais desafiador na ausência de marcadores específicos e prontamente disponíveis. Déficits cognitivos na DCB são agora reconhecidos frequentemente como apresentações iniciais e podem surgir até 8 anos antes dos sintomas motores, dependendo da variante fenotípica. O quadro cognitivo envolve característicamente déficits de linguagem, disfunção visuoespacial e executiva, apraxia, e distúrbios comportamentais. Anormalidades da linguagem são frequentemente descritas nos estágios iniciais da DCB.

Degeneración corticobasal: reporte de un caso / Corticobasal degeneration: a case report

Se presenta un caso de Degeneración Corticobasal en una paciente chilena de 48 años de edad. La evolución clínica fue progresiva, con parkinsonismo (rigidez, acinesia, alteraciones posturales, disartria), deterioro cognitivo, apraxia del vestir, apraxia constructiva e hipomimia. Además, la paciente presentaba afasia no fluente. Adicionalmente, fue diagnosticada con Síndrome Depresivo Crónico (SDC) y Trombosis Venosa Profunda (TVP) de la extremidad inferior izquierda. Se han descrito varios tipos de enfermedades neurodegenerativas en las últimas décadas, las cuales cumplen con distintas características patológicas y clínicas. Sin embargo, la diferenciación de estas, en la práctica, es compleja y se necesita de una apreciación clínica entrenada, evaluaciones clínicas detalladas, neuroimágenes y estudios de laboratorio para lograr llegar a un diagnóstico adecuado. Dentro de las principales enfermedades neurodegenerativas que se presentan con parkinsonismo encontramos las llamadas “taupatías”, que son la Degeneración Corticobasal (DCB) y la Parálisis Supranuclear Progresiva*(PSP)...

A case study of corticobasal degeneration in a Chilean 48 year old female patient is reported. The clinical course was progressive and included Parkinsonism (rigidity, akinesia, postural abnormalities, dysarthria), cognitive impairment, dressing apraxia, constructive apraxia and hypomimia. In addition, the patienth ad non Mfluent aphasia. Also, the patient was diagnosed with Chronic Depressive Syndrome and Deep Venous Thrombosis (DVT) of the left lower extremity. In recent decades, several types of neurodegenerative diseases* have been described. These diseases have different clinical and pathologic features. However, in practice, it is difficult to differentiate them from one another and, to reach an accurate diagnosis, advanced medical skills, detailed clinical evaluations of neuroimaging and laboratory studies are needed. “Tauopathies”, which are Corticobasal Degeneration (CBD) and Progressive Supranuclear Palsy (PSP) are among the major neurodegenerative diseases occurring with Parkinsonism...

Violência e sofrimento social no itinerário de travestis de Santa Maria, Rio Grande do Sul, Brasil / Violence and social distress among transgender persons in Santa Maria, Rio Grande do Sul State, Brazil / La violencia y el sufrimiento social en el itinerario de las personas transgénero de Santa María, Río Grande do Sul, Brasil

No ano de 2012, realizamos pesquisa etnográfica com travestis de Santa Maria, Rio Grande do Sul, Brasil, por meio de observação participante, entrevistas e acompanhamento de suas vidas cotidianas. Durante esse período, percebemos que as violências física e simbólica e o sofrimento delas decorrentes eram invariantes, condição com a qual tinham que lidar em seus itinerários, em suas práticas e afazeres diários. Este artigo discute as violências vivenciadas nas trajetórias percorridas pelas travestis (família, escola, delegacias, serviços de saúde), procurando, sobretudo, compreender como tais violências estão relacionadas às experiências nos serviços de saúde e como os serviços de saúde por elas acessados reagiram às violências.

The authors conducted an ethnographic research with transgender persons in Santa Maria, Rio Grande do Sul State, Brazil, in 2012, using participant observation, semi-structured interviews, and following their everyday lives. These individuals invariably experienced physical and symbolic violence and the resulting distress, a condition they had to deal with in their careers and daily practices and tasks. The article discusses the violence experienced by transvestites (in the family, school, police precincts, and health services), specifically seeking to understand how such violence relates to their experiences with health services and how the latter respond.

Hemos llevado a cabo una investigación etnográfica con personas transgénero de Santa María, Río Grande do Sul, Brasil, durante el año 2012, a través de la observación participante, entrevistas semiestructuradas y seguimiento de su vida cotidiana. Durante este período, se observó que la violencia física y simbólica y el sufrimiento que resulta de ellos, eran invariables, una condición que tenían que hacer frente en sus carreras, en sus prácticas y actividades diarias. Este artículo describe el panorama de la violencia experimentada en la rutina de transexuales (familia, escuela, policía, servicios de salud), con el objetivo particular de entender cómo este tipo de violencia está relacionado con experiencias en el cuidado de la salud y cómo los servicios de salud reaccionaron a este tipo de situaciones de violencia.

Demências rapidamente progressivas. Importância da neuroimagem nas etapas diagnósticas. / Rapidly progressive dementias. Importance of neuroimage in the diagnostic steps.

As demências rapidamente progressivas constituem um grupo heterogêneo de condições clínicas (neurodegenerativas, vasculares, infecciosas, imunomediadas, tóxicas, metabólicas, tumorais, psicogênicas) e cirúrgicas. Avaliação detalhada é imprescindível, devendo ser seguido protocolo extenso constituído por diversas etapas diagnósticas, que compreendem anamnese detalhada, exames clínico e neurológico, e avaliação complementar. É ressaltada a importância da neuroimagem (RM estrutural do cérebro), sendo apresentadas imagens ilustrativas características das principais condições.

Rapidly progressive dementias constitute a heterogeneous group of clinical (neurodegenerative, vascular, infectious, immunomediated, toxic, metabolic, tumoral, psychogenic) and surgical conditions. Detailed evaluation is essential, and an extensive protocol constituted by several diagnostic steps must be followed, which include detailed anamnesis, clinical and neurological examination, and complementary assessment. The importance of neuroimage (structural MRI of the brain) is highlighted, and illustrative images characteristic of the main conditions are presented.

Datos normativos de pruebas neuropsicológicas en adultos mayores en una población Colombiana / Normative data of neuropsychological tests in elderly people in a Colombian population

Introducción: El Grupo de Neurociencias de Antioquia utiliza como protocolo de evaluación cognitiva la batería cognitiva del CERAD. Objetivo: Validar una serie de pruebas neuropsicológicas utilizadas para el diagnóstico de enfermedades neurodegenerativas en una población colombiana. Procedimiento: La muestra estuvo conformada por 848 participantes. Además 151 personas con demencia de Tipo Alzheimer (DTA) y 36 con Deterioro Cognitivo Leve (DCL). Resultados: Para los dominios cognoscitivos evaluados se encontraron coeficientes de consistencia superiores a 0.70. La confiabilidad test-retest presentó coeficientes de correlación intraclase mayores a 0.70. Entre grupos se encontraron diferencias estadísticamente significativas (p<0.05). Se encontraron correlaciones de moderadas a altas entre las pruebas neuropsicológicas y las escalas que miden severidad de la demencia y la funcionalidad. Discusión: Las pruebas utilizadas son útiles para la evaluación de las enfermedades neurodegenerativas, la comunidad científica podrá contar con normas ajustadas a los factores sociodemográficos característicos de nuestra población y otras que presenten características similares a esta población colombiana.

Introduction: Antioquia Neurosciences Group used as a cognitive assessment protocol, the CERAD cognitive battery. Objective: To validate a series of neuropsychological tests used for diagnosis of neurodegenerative disease in a Colombian population. Procedure: The sample consisted of 848 participants. In addition 151 people with dementia of Alzheimer type (DAT) and 36 with mild cognitive impairment (MCI). Results: For the cognitive domains assessed by this protocol consistency coefficients were above 0.70. The test-retest reliability intraclass correlation coefficients showed greater than 0.70. Between groups differences were statistically significant (p <0.05). We found moderate to high correlations between neuropsychological tests and scales that measure severity of dementia and functionality. Discussion: The tests used are useful for the evaluation of neurodegenerative diseases, the scientific community may have rules tailored to the sociodemographic characteristics of our population and that may be useful in populations that have similar characteristics to this Colombian population.

Parasomnias: an overview.

Parasomnias are abnormal experiences or behaviours that occur during sleep and can be subdivided into disorders of arousal, disorders of rapid eye movement (REM) sleep or other parasomnias. Diagnosis rests on a thorough clinical evaluation with supporting data from a full polysomnography with time synchronized video. While the prognosis for arousal disorders is generally excellent, the diagnosis of REM behaviour disorder (RBD) is more ominous and associated with neurodegenerative disorders, and as such, requires routine neurological surveillance. The cornerstone of treatment for all parasomnias is adequate patient and bed partner education. Data supporting pharmacologic therapy are limited but clonazapam for RBD has been reported to be effective in up to 89 per cent of patients.

Farber disease: a rare neurodegenerative disorder

This is the case report of a two-and-a-half-year old male infant with Farber disease, which is a rare neurodegenerative mucolipidosis. The child presented with regression of milestones, laryngeal involvement and painful joints with swellings around the joints. Neuroimaging findings and the biopsy of the soft tissue swellings helped to reach the diagnosis

Minimization of the number of pedicular screws placing in the degenerative lumbar spine.

OBJECTIVE: The present study was carried out to compare clinical results of spinal fusion in degenerative disease of lumbar between using pedicular screw instrumentation in every pedicle and partial placing the screws in some vertebra to provide immediate stabilization of the spine. MATERIAL AND METHOD: Fifty patients with degenerative diseases of their lumbar spines and needing spinal fusion between 2004 and 2007 were included in this study. They were divided into two groups by the order of their admissions. All underwent complete decompressive laminectomy and posterlateral fusion with autogenic bone grafting. In the first group, 25 patients received pedicular screw instrumentation at all pedicles that were in the fusion area. In the second group, 25 patients received pedicular screw instrumentation only in particular pedicles to minimize the operative time, blood loss and the cost of instrumentation. Japanese Orthopedic Association (JOA) Lumbar Scoring System was used to evaluate function outcome of the patients. RESULTS: There was no serious complication in both groups. Furthermore, there was no significant difference in terms of operative time, amount of blood loss, time to bone union, and JOA lumbar score at the one-year follow-up between the groups. However, the costs of instrumentation were significantly reduced in the second group. CONCLUSION: Minimizing the numbers of pedicular screws instrumentation for spinal fusion of degenerative spine could be carried out to lessen the cost of treatment in particular patients.

Cerebellar degeneration and immune thrombocytopenic purpura associated with human immunodefi ciency virus infection (HIV)

Cerebellar disorders associated with HIV infection are usually caused by opportunistic infections, central nervous system lymphoma, and toxic effects of medicines, nutritional and metabolic disorders, and cerebrovascular disease. We present an unusual association of cerebellar degeneration and immune thrombocytopenic purpura in a 28-years-old woman HIV infected. An autoimmune aetiology is likely.

Transtornos cerebelares associados a infecção pelo HIV são comumente causados por infecções oportunistas, linfoma do sistema nervoso central, efeitos tóxicos de medicamentos anti-retrovirais, alterações metabólicas e nutricionais, e doença cerebrovascular. Apresentamos um caso incomum de associação de degeneração cerebelar e púrpura trombocitopênica imunológica em um mulher de 28 anos infectada pelo HIV. Discutimos uma possível etiologia autoimune para justificar o quadro.

Hiperhomocisteinemia: um fator de risco para as doenças do século XX / Hyperhomocysteinemia: a risk factor for diseases of the twentieth century

Introdução: A homocisteína é um aminoácido sulfurado derivado da metionina que está associado á gênese de várias doenças não transmissíveis. Sua concentração plasmática é resultado de fatores genéticos, hormonais e nutricionais, como o estado nutricional das vitaminas ácido fólico, cobalamina e piridxina. A hiperhomocisteinemia, mesmo que leve, é considerada fator de risco independente para doença cardiovascular, estando associada a eventos tromboembólicos, doença arterosclerótica e hipertensão arterial. Além disso, também está relacionada à resistência insulínica e, consequentemente, á síndrome metabólica. Objetivo: Discutir a possível associação da hiperhomocisteinemia com a ocorrência de doenças e agravos não transmissíveis, através de ampla revisão bibliográfica. Método: realizou-se levantamento bibliográfico dos últimos seis anos, consultando as bases de dados do Medline, Sielo, Lilacs, sendo selecionados artigos mais relevantes relacionados com o objetivo desta revisão. Conclusões: Vários estudos sugerem a possível associação da hiperhomocisteinemia com doenças de grande impacto social, como as cardiovasculares, o câncer, as doenças do sistema digestório, a insuficiência renal e as doenças neurodegenerativas. Esses resultados demonstram a importância da realização de pesquisas científicas nesta área a fim de estudar essa possível associação. portanto, o tratamento da hiperhomocisteinemia constitui-se numa estratégia eficaz para a prevenção de tais doenças. Esse tratamento deve se basear, principalmente, no incremento do estado nutricional do folato, o que se tornou mais acessível no Brasil após o enriquecimento de alguns alimentos com essa vitamina.

Introduction: Homocysteine is a sulfur-containing amino acid derived from methionine that is associated to the genesis of several noncommunicable diseases. Its plasma concentration is the result of genetic, hormonal and nutritional factors, such as the nutritional status of the vitamins folic acid, cobalamin and piridxina. Hyperhomocysteinemia, even slight, is considered an independent risk factor for cardiovascular disease and is associated with thromboembolic events, atherosclerotic disease and hypertension. It also is related to insulin resistance and hence the metabolic syndrome. Objective: To discuss the possible association of hyperhomocysteinemia and the occurrence of non-communicable diseases and injuries, through extensive literature review. Method: literature review took place over the last six years, consulting the databases of Medline, Siel, Lilacs, being selected most relevant articles related to the purpose of this review. Conclusions: Several studies suggest a possible association of hyperhomocysteinemia with diseases of major social impact such as cardiovascular disease, cancer, digestive system diseases, renal failure and neurodegenerative diseases. These results demonstrate the importance of conducting scientific research in this area in order to study this possible association. therefore, the treatment of hyperhomocysteinemia constitutes a successful strategy for the prevention of such diseases. This treatment should be based mainly in increasing the nutritional status of folate, which became more accessible in Brazil after the enrichment of foods with this vitamin.

Canavan Disease: a case report from Kuwait

A Kuwaiti female presented at age of three months with macrocephaly, hypotonia, and global developemental delay. She was found to have Cancvan disease. Although Cancvan disease is a rare autosomal recessive neurometabolic disorder which occurs mainly in Ashkanazi Jews, we are reporting this case to highlight that neurometabolic diseases as well as other rare autosomalrecessive disorders affect a relatively large number of patients in countries with high rate of consanguineous marrige like Kuwait and other Gulf areas. We believe that it is high time for molecular cytogenetic studies to be done on Canvan disease and other rare neurometabolic disorders affecting Kuwaiti patients

Eletroencefalografia na clínica: síntese / Eletroencefalography in clinical practice: synthesis

O EEG é um exame neurofisiológico que prioriza o estudo do funcionamento elétrico cerebral normal e suas disfunções. Este artigo sobre EEG sintetiza: os conhecimentos básicos para a realização e interpretação do seu registro; a avaliação semiológica dos seus padrões normais; as indicações precisas para sua prescrição; as suas anormalidades mais comuns encontradas nas epilepsias, no coma, na morte cerebral, nos padrões periódicos (na Panencefalite Esclerosante Subaguda e na Doença de Creutzfeldt-Jakob, p.ex.) e nas condições neurológicas mais comuns (acidente vascular cerebral, demências, migrâneas, doenças inflamatórias e degenerativas, no traumatismo crânio-encefálico e nos transtornos psiquiátricos).

The EEG is a neurological test that emphasizes the brain electrical function, normal or its dysfunctions. This paper summarizes the EEG: basic Knowledge of its registration and interpretation; its semiological evalution related to normal and abnormal patterns; the precise indications for its indications; the EEG moe common abnormalities findings in epilepsy, coma, brain death, periodic patterns (subacute and degenerative disorders, brain trauma, and psychiatric disorders).

Demencia com corpos de Lewy: uma revisao para o psiquiatra / Dementia with lewy bodies: a review for psychiatrists

A demencia com corpos de Lewy (DCL) tornou-se hoje um entidade nosologica distinta, considerada por muitos autores a segunda causa principal de demencia degenerativa, atras apenas da doenca de Alzheimer. Sua neuropatologia...

Apoptose e sistema complemento: mecanismos participantes da neurodegeneracao na doenca de Huntington / Apoptosis and complement system: participating mechanisms in Huntington's disease neurodegeneration

A doenca de Huntington (DH) e uma patologia neurodegenerativa de heranca autossomica dominante, que, geralmente, tem inicio nas terceiras e quarta decadas de vida. Atinge homens e...

Involuntary hand levitation associated with parietal damage: another alien hand syndrome

The alien hand syndrome (AHS) usually consists of an autonomous motor activity perceived as an involuntary and purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognise ownership of the limb in the absence of visual clues. It has been described in association to lesions of the frontal lobes and corpus callosum. However, parietal damage can promote an involuntary, but purposeless, hand levitation, which, sometimes, resembles AHS. In the present study, four patients (cortico-basal ganglionic degeneration -- n=2; Alzheimer's disease -- n=1 and parietal stroke -- n=1) who developed alien hand motor behaviour and whose CT, MRI and/or SPECT have disclosed a major contralateral parietal damage or dysfunction are described. These results reinforce the idea that parietal lobe lesions may also play a role in some patients with purposeless involuntary limb levitation, which is different from the classic forms of AHS

Mitochondrial diseases: an overview of genetics, pathogenesis, clinical features and an approach to diagnosis and treatment.

Defects in structures or functions of mitochondria, mainly involving the oxidative phosphorylation, mitochondrial biogenesis and other metabolic pathways have been shown to be associated with a wide spectrum of clinical phenotypes. The ubiquitous nature of mitochondria and their unique genetic features contribute to the clinical, biochemical and genetic heterogenecity of mitochondrial diseases. This article focuses on the recent advances in the field of mitochondrial disorders with respect to the consequences for an advanced clinical and genetic diagnostics. In addition, an overview on recently identified genetic defects and their pathogenic molecular mechanisms are given.