Résumé
La polirradiculoneuropatía desmielinizante inflamatoria crónica, es un grupo de neuro-patías periféricas inmunomediadas clínicamente heterogéneas que comparten manifes-taciones neurofisiológicas de desmielinización y disociación albuminocitológica. Se distinguen una forma típica y variantes atípicas, algunas asociadas a anticuerpos con-tra proteínas del nodo de Ranvier, como la neurofascina- 155. Presentamos el caso de un varón de 38 años, que acudió por cuadro de ocho meses de evolución, caracterizado por parestesias y debilidad progresiva de cuatro extremidades, asociado a diplopía y disfagia. El paciente estaba despierto, con cuadriparesia flácida simétrica de predominio distal, hipotrofia en dorso y palma de ambas manos, arreflexia generalizada, temblor postural de baja frecuencia y alta amplitud en miembros superiores de predominio izquierdo, dismetría apendicular, adiadococinesia, oftalmoparesia a la dextroversión en ojo dere-cho, reflejo nauseoso ausente, marcha atáxica con aumento de base de sustentación y signo de Romberg positivo. El líquido cefalorraquideo mostró disociación albuminocitológica y la electromiografía fue compatible con polineuropatía sensitivo- motora primariamente desmielinizante. Por la sospecha clínica, solicitamos anticuerpos antineurofascina- 155, que resultaron positivos. Recibió tratamiento con metilprednisolona a dosis de un gramo al día durante cinco días, seguido de un miligramo por kilogramo durante tres meses de prednisona, con disminución progresiva con lo que mejoró la diplopía y la disfagia, sin mejoría de la fuerza en extremidades e incluso empeoramiento de la funcionabilidad. Por esta razón se inició tratamiento con rituximab en dosis de dos gramos presentando una notable mejoría en la fuerza muscular distal, el temblor, la estabilidad de la marcha, coordinación y de su funcionabilidad medida con la escala de Rankin modificado.
Chronic inflammatory demyelinating polyradiculoneuropathy is a clinically heterogeneous group of immune- mediated peripheral neuropathies that share neurophysiological manifesta-tions of demyelination and albuminocytologic dissociation. There are typical and atypical variants of this disease, some associated with antibodies against proteins of the node of Ranvier, such as neurofascin- 155. We present the case of a 38- year- old male who presented with an eight- month history of par-esthesia and progressive weakness of four limbs associated with diplopia and dysphagia. The patient was conscious, with symmetric flaccid quadriparesis of distal predominance, hyp-otrophy in the dorsum and palm of both hands, generalized areflexia, postural low frequency, and high amplitude tremor in upper limbs of left predominance, appendicular dysmetria, dys-diadochokinesia, ophthalmoparesis to dextroversion in the right eye, absent gag reflex, ataxic gait with an increased base of support and positive Romberg's sign. Cerebrospinal fluid showed albuminocytologic dissociation, and electromyography was com-patible with primarily demyelinating sensory- motor polyneuropathy. Due to clinical suspicion, we requested anti- neurofascin- 155 antibodies, which tested positive. The patient was treated with methylprednisolone at a dose of one gram per day for five days, followed by one milligram per kilogram for three months of prednisone, with progressive de-crease, which improved diplopia and dysphagia, with no effect on limb strength and even worsening of function. For this reason, treatment with rituximab was started in doses of two grams, presenting a substantial improvement in distal muscle strength, tremor, gait stability, coordination, and functionality measured with the modified Rankin scale.
Résumé
ABSTRACT Background: A new instrument was designed to measure attitudes towards intellectual disability in the workplace. This tool provides the opportunity to identify underlying cognitive and emotional patterns that may influence people's interaction and performance in such environments. Objective: To construct, validate, and ensure the reliability of a scale measuring attitudes towards intellectual disability, establishing its suitability in labor inclusion programs. Method: A psychometric design was used that incorporated qualitative techniques, such as focus groups and cognitive interviews, in the instrument construction phase. The content validation of the items involved the participation of 15 experts in the field, which resulted in a reduced version with 10 items distributed in two dimensions: Perception and Social Distance. Subsequently, both the validity of the internal structure and the reliability of the instrument were evaluated in a sample of 255 individuals, composed of 35% (n=88) women and 66% (n=167) men. Result: The third-factor model evaluated with confirmatory factor analysis (CFA) was the one that demonstrated excellent fit indices (CFI= .991; TLI=.988; RMSEA= .076; SRMR =.038), with an adequate inter-factor correlation (0.82) and adequate consistency coefficients (α=0.825; ω=0.916). Conclusion: A tool of invaluable value is presented for planning public health programs aimed at reducing stigma and promoting the socio-labor inclusion of people with intellectual disabilities.
RESUMEN Introducción: Se diseñó un nuevo instrumento para medir las actitudes hacia la discapacidad intelectual en el lugar de trabajo. Esta herramienta brinda la oportunidad de identificar patrones cognitivos y emocionales subyacentes que pueden influir en la interacción y el desempeño de las personas en dichos entornos. Objetivo: Construir, validar y asegurar la fiabilidad de una escala que mide las actitudes hacia la discapacidad intelectual, estableciendo su idoneidad en programas de inclusión laboral. Método: Se utilizó un diseño psicométrico que incorporó técnicas cualitativas, como grupos focales y entrevistas cognitivas, en la fase de construcción del instrumento. La validación de contenido de los ítems contó con la participación de 15 expertos en la materia, lo que resultó en una versión reducida con 10 ítems distribuidos en dos dimensiones: Percepción y Distancia Social. Posteriormente, se evaluó tanto la validez de la estructura interna como la confiabilidad del instrumento en una muestra de 255 individuos, compuesta por 35% (n=88) mujeres y 66% (n=167) hombres. Resultados: El tercer modelo factorial evaluado con análisis factorial confirmatorio (AFC) fue el que demostró excelentes índices de ajuste (CFI= .991; TLI=.988; RMSEA= .076; SRMR =.038), con una adecuada correlación interfactorial (0.82). y coeficientes de consistencia adecuados (α=0,825; ω=0,916). Conclusión: Se presenta una herramienta de invaluable valor para la planificación de programas de salud pública dirigidos a reducir el estigma y promover la inclusión sociolaboral de personas con discapacidad intelectual.
Résumé
ABSTRACT Amnestic mild cognitive impairment (aMCI) is a subtle alteration in cognitive function that does not affect day-to-day activities and can precede Alzheimer's dementia. An increase in the prevalence of both these conditions is expected given the growing elderly population and recognizing risk factors can help reduce the burden. Objective: the aim of this study was to determine the frequency and associated factors of aMCI in senior citizen clubs (SCC) at four districts with different socioeconomic status in Lima, Peru. Methods: we applied Petersen's criteria to determine the presence of the condition in an interview which included the use of the Memory Alteration Test (M@T) and the Pfeffer Functional Activity Questionnaire (PFAQ). Results: sixty-three out of 352 (17.9%) participants had aMCI. Factors associated with this condition were older age, fewer years of education at marriage whereas being from the SCC La Molina (district with highest socioeconomic status and resources for activities for the elderly) were associated with not having aMCI. There was no difference for sex, body mass index or history of hypertension. Conclusion: this predementia stage is frequent and usually undetected in urban Lima. Tools such as the M@T could help general practitioners detect this condition before its progression to dementia.
RESUMO O comprometimento cognitivo leve amnésico (aMCI) é uma alteração sutil na função cognitiva que não altera as atividades do dia-a-dia e pode preceder a demência de Alzheimer. Um aumento na prevalência de ambas as condições é esperado devido ao crescimento da população idosa e o reconhecimento de fatores de risco pode ajudar a reduzir a carga de doença. Objetivo: o objetivo deste estudo foi o de determinar a freqüência e fatores associados a MCI em clubes de cidadãos idosos (CCI) em quatro distritos com diferentes condições socioeconômicas em Lima, Peru. Métodos: aplicamos os critérios de Petersen para determinar a presença da condição em uma entrevista que incluiu o uso do Teste de Alteração de Memória (M@T) e do Questionário de Atividades Funcionais de Pfeffer (QAFP). Resultados: sessenta e três dos 352 (17,9%) participantes tinham MCI. Os fatores associados a essa condição foram idade avançada, menor tempo de estudo ao se casar enquanto ser provenientes do CCI La Molina (distrito com maior nível socioeconômico e recursos para atividades para idosos) foram associados a não possuir um MCI. Não houve diferença por sexo, índice de massa corporal e história de hipertensão. Conclusão: este estágio de pré-demência é frequente e geralmente não detectado na cidade de Lima. Ferramentas como o M@T poderiam ajudar os clínicos gerais a detectar essa condição antes da progressão para a demência.
Sujets)
Humains , Démence , Dysfonctionnement cognitif , MémoireRésumé
La Homocistinuria, es un desorden metabólico autosómico recesivo, cuya forma clásica es causada por deficiencia de cistationina β-sintasa, debido a mutaciones en el gen CBS (Cr 21q22.3). Se describe el caso de un varón de 17 años con hipopigmentación de piel y faneras, retraso psicomotor moderado, hábito marfanoide, miopía severa, subluxación del cristalino bilateral, que además presentó eventos psicóticos y una hemiparesia izquierda secundaria a un infarto lacunar. La determinación de homocisteína en plasma se encontró elevada (>9,9mg/dl), así como niveles altos de nitroprusiato de sodio en orina (4+) que confirmaron el diagnóstico clínico de homocistinuria. La homocistinuria clásica genera múltiples complicaciones a nivel dérmico, oftalmológico, cognitivo, osteoarticular y psiquiátrico; que podrían evitarse con un diagnóstico y tratamiento oportuno a través del tamizaje neonatal, aún no disponible en la mayoría de centros asistenciales en el Perú...
Homocystinuria is an autosomal-recessive metabolic disorder whose classical phenotype is caused by a deficiency of cystathionine β-synthase, due to mutations within the CBS gene (Cr21q22.3). Herein we report a 17 year old man with hypopigmented skin and hair, mental retardation, marfanoid habitus, severe myopia, bilateral lens subluxation, psychotic episodes, and left-sided hemiparesis secondary to a lacunar brain infarction. Laboratory tests showed increased levels of homocysteine (>9.9mg/dl) in plasma and high levels of urinary sodium nitroprusside (4+), consistent with the clinical diagnosis of classical homocystinuria. This systemic disorder includes dermal, ophthalmic, cognitive, osteoarticular and psychiatric alterations, all of which could be potentially prevented with early diagnosis and therapy as part of newborn screening, which is still unavailable in Peru...