Prevalencia de enfermedad de Fabry en pacientes en lista de trasplante y posttrasplante renal en fundación cardioinfantil Bogotá

Introducción: La Enfermedad de Fabry (EF), es una enfermedad multisistémica de almacenamiento lisosomal ligada al cromosoma X que afecta principalmente a hombres, pero también puede causar significativa morbilidad en las mujeres heterocigotas (1–5). La deficiencia de la enzyma α-galactosidaseA (α-Gal A,) provoca acumulación de glicosfingolipidos que afectan diferentes tipos celulares entre ellos el endotelio vascular en vasos de pequeño calibre, células epiteliales y Músculo liso en el sistema cardiovascular (cardiomiocitos), sistema nervioso y células epiteliales tubulares del riñón (6,7). Complicaciones como la falla renal es la causa de muerte más frecuente en la EF (7,8). La incidencia se ha calculado en 1 de cada 117.000 nacidos vivos. (9). Objetivos: Determinar la prevalencia de la Enfermedad de Fabry en pacientes con Insuficiencia renal terminal que se encuentren en lista de trasplante y Post-trasplante Renal en Fundación Cardioinfantil Bogotá. Materiales y Métodos: Se realizó un estudio observacional en donde se evaluó la prevalencia de la EF en todos los sujetos mayores de 18 años que se encuentren en lista de trasplante y post-trasplante renal. Resultados: La prevalencia de Enfermedad de Fabry en 98 pacientes con enfermedad renal crónica fue de 7.1% para la muestra general y 12.9% para la muestra con etiología idiopática Conclusiones: La Enfermedad de Fabry es una importante casusa de Enfermedad Renal Crónica Terminal principalmente en el grupo de etiología idiopática. Palabras Clave: Enfermedad de Fabry (FA)

Cessació de l'hàbit tabàquic en pacients afectats de malaltia vascular cerebral aguda

S'han estudiat 1003 pacients amb el diagnòstic de Malaltia Vascular Cerebral (MVC) aguda ingressats a la unitat de neurologia de l'Hospital Josep Trueta de Girona en el període de gener de 2005 a juliol de 2007. S'ha realitzat un estudi de cohorts prospectiu d'un any en 110 pacients que eren fumadors en el moment de l'ictus. Un elevat percentatge dels pacients afectats de MVC aguda presenten factors de risc vascular que es poden evitar com el consum de tabac o d'alcohol, i factors de risc vascular que cal controlar com la hipertensió, la dislipèmia, la diabetis o la cardiopatia. Només 4 de cada 10 pacients fumadors diagnosticats d'ictus havien abandonat l'hàbit un any després de presentar la MVC aguda. Les variables que millor prediuen la cessació tabàquica en aquests pacients són la localització de la lesió a l'ínsula cerebral i la intenció de deixar de fumar prèvia a l'ictus.

Risk of recurrent stroke and death after first stroke in long-distance ski race participants

Background: Physical activity is of benefit for primary prevention of cardiovascular diseases, but it appears to increase the risk for atrial fibrillation. We aimed to study a cohort of patients following a first stroke in individuals with previous high physical activity, compare them to the general population with respect to recurrent stroke and death, and relate these to atrial fibrillation. Methods and results: From the participants of the Vasaloppet, the world's largest ski-race, and matched individuals from the general population (n=708 604), we identified 5964 patients hospitalized with a first-time stroke between 1994 and 2010. Individuals with severe diseases were excluded. One half percent of skiers and 1% of nonskiers were hospitalized due to stroke. The incidence rate was 8.3 per 100 person-years among skiers and 11.1 among nonskiers. The hazard ratio (HR) for recurrent stroke or death between the 2 groups was 0.76 (95% CI 0.67 to 0.86). The result was consistent in subgroups. The HR for death was 0.66 (95% CI 0.56 to 0.78) and for recurrent stroke 0.82 (95% CI 0.70 to 0.96). After adjustment for smoking and socioeconomic factors, the HR for death was consistent at 0.70 (95% CI 0.56 to 0.87) while the HR for recurrent stroke was not statistically significant. Outcomes for skiers with atrial fibrillation tended to show a lower risk than for nonskiers. Conclusions: This large cohort study supports the hypothesis that patients with a stroke and with prior regular physical activity have a lower risk of death, while their risk for recurrent stroke is similar to that of nonskiers. The skiers had a higher incidence of atrial fibrillation, but still no increased risk of recurring stroke.

Role of dietary fats in modulating cardiometabolic risk during moderate weight gain : a randomized double-blind overfeeding trial (LIPOGAIN study)

BACKGROUND: Whether the type of dietary fat could alter cardiometabolic responses to a hypercaloric diet is unknown. In addition, subclinical cardiometabolic consequences of moderate weight gain require further study. METHODS AND RESULTS: In a 7-week, double-blind, parallel-group, randomized controlled trial, 39 healthy, lean individuals (mean age of 27±4) consumed muffins (51% of energy [%E] from fat and 44%E refined carbohydrates) providing 750 kcal/day added to their habitual diets. All muffins had identical contents, except for type of fat; sunflower oil rich in polyunsaturated fatty acids (PUFA diet) or palm oil rich in saturated fatty acids (SFA diet). Despite comparable weight gain in the 2 groups, total: high-density lipoprotein (HDL) cholesterol, low-density lipoprotein:HDL cholesterol, and apolipoprotein B:AI ratios decreased during the PUFA versus the SFA diet (-0.37±0.59 versus +0.07±0.29, -0.31±0.49 versus +0.05±0.28, and -0.07±0.11 versus +0.01±0.07, P=0.003, P=0.007, and P=0.01 for between-group differences), whereas no significant differences were observed for other cardiometabolic risk markers. In the whole group (ie, independently of fat type), body weight increased (+2.2%, P<0.001) together with increased plasma proinsulin (+21%, P=0.007), insulin (+17%, P=0.003), proprotein convertase subtilisin/kexin type 9, (+9%, P=0.008) fibroblast growth factor-21 (+31%, P=0.04), endothelial markers vascular cell adhesion molecule-1, intercellular adhesion molecule-1, and E-selectin (+9, +5, and +10%, respectively, P<0.01 for all), whereas nonesterified fatty acids decreased (-28%, P=0.001). CONCLUSIONS: Excess energy from PUFA versus SFA reduces atherogenic lipoproteins. Modest weight gain in young individuals induces hyperproinsulinemia and increases biomarkers of endothelial dysfunction, effects that may be partly outweighed by the lipid-lowering effects of PUFA. CLINICAL TRIAL REGISTRATION URL: http://ClinicalTrials.gov. Unique identifier: NCT01427140.

Evuloção cognitiva e funcional de pacientes pós-acidente vascular cerebral - AVC

PURPOSE: Stroke is a high-incidence cerebrovascular disease with elevated morbidity that results in impairments such as functional disabilities. This study aimed to investigate the functional evolution of individuals in the first six months post-stroke. METHOD: Longitudinal study with 42 stroke patients. The functional independence measure (FIM) and The National Institutes of Health Stroke Scale (NIHSS) were used by multidisciplinary staff 3 times in each participant; the first application was at admission to rehabilitation and the others three and six months later. RESULTS: Sample predominantly female (57%), married (52%), mean age 65.26 ±10.72 years, elementary schooling level (43%), ischemic stroke (91%), and right cerebral hemisphere (74%). Motor FIM scores and NIHSS scale showed improvement in the 3 evaluations, with significant p-value (<0.001). There was a strong relation between motor FIM evolution and NIHSS evolution (r = - 0.69 p-value< 0.001). CONCLUSIONS: It was observed that functional evolution at 6 months post-stroke was significant and the smaller the evolution of clinical impairment in these patients, the larger the evolution of their functional independence. The study is important because it allows a more appropriate therapeutic planning according with functional evolution in stroke rehabilitation

Incidência de disfagia orofaríngea após acidente vascular encefálico em hospital público de referência

A doença vascular encefálica (AVE) é a principal causa de morte no Brasil. As seqüelas em indivíduos pós-acidente vascular encefálico incluem distúrbios motores, distúrbios de fala ou de linguagem e distúrbios de deglutição. A disfagia orofaríngea ocorre em cerca de 50% dos pacientes com AVE. Este estudo teve por objetivo determinar a incidência da disfagia após AVE. Foram avaliados todos os pacientes que deram entrada em hospital universitário de referência no período de um ano, tão logo apresentassem condições para avaliação clínica, fonoaudiológica e neurológica (102 pacientes), com análise objetiva da deglutição (61 pacientes). Foi observada incidência de disfagia em 76,5% dos pacientes avaliados clinicamente, este percentual elevando-se a 91% com avaliação videofluoroscópica. A alta incidência de disfagia observada neste estudo que avaliou pacientes com amplo espectro de gravidade, em diferentes fases de recuperação, ressalta a importância de equipe multidisciplinar, incluindo fonoaudiólogos capacitados, para avaliar os distúrbios da deglutição nos diversos momentos de recuperação dos AVEs.

Trochlear nerve palsy associated with claude bernard-horner syndrome after brainstem stroke

The association of unilateral trochlear nerve palsy with Claude Bernard-Horner syndrome represents a rare clinical condition. We present the case of a patient with this unusual presentation. The investigation performed implicated cerebrovascular disease as the underlying cause of the condition in this patient. © 2011 S. Karger AG, Basel.

Potentially inappropriate medications used by the elderly: Prevalence and risk factors in Brazilian care homes

Abstract. Background: The use of potentially inappropriate medications (PIM) among the elderly is a serious public health problem because it is intrinsically linked to increased morbidity and mortality, causing high costs to public health systems. This study's objective was to verify the prevalence of and the factors associated with the use of PIMs by elderly Brazilians in institutional settings. Methods. We performed a transversal study, by consulting the case files of elderly people living in Long Term Care for the Elderly (LTC) in towns in the State of São Paulo, Brazil, as well as structured interviews with the nurses responsible for them.We identified PIMs using the list of recently updated Beers criteria developed by a group of specialists from the American Geriatrics Society (AGS), who reviewed the criteria based on studies with high scientific evidence levels. We defined the factors studied to evaluate the association with PIM use prior to the statistical analyses, which were the chi-square test and multiple logistic regression. Results: Among the elderly who used drugs daily, 82.6% were taking at least one PIM, with antipsychotics (26.5%) and analgesics (15.1%) being the most commonly used. Out of all the medications used, 32.4% were PIMs, with 29.7% of these being PIMs that the elderly should avoid independent of their condition, 1.1% being inappropriate medication for older adults with certain illnesses or syndromes, and 1.6% being medications that older adults should use with caution. In the multivariate analysis, the factors associated with PIM use were: polypharmacy (p = 0.0187), cerebrovascular disease (p = 0.0036), psychiatric disorders (p < 0.0001) and dependency (p = 0.0404). Conclusions: The results of this study showed a high prevalence of PIM use in institutionalized elderly Brazilian patients. and the associated factors were polypharmacy, psychiatric disorders, cerebrovascular diseases and dependency. © 2013 Lima et al.; licensee BioMed Central Ltd.

Espectros Clínicos da Trombose Venosa Cerebral

Introduction. Cerebral Venous Thrombosis has a highly variable clinical presentation. Four major syndromes had been described in patients with cerebral venous thrombosis: isolated intracranial hypertension, focal neurological deficits, focal or generalized seizures and disturbances of consciousness and cognitive dysfunction. Method. We describe five consecutive patients admitted to our service with a diagnosis of cerebral venous thrombosis, highlighting the different possibilities of clinical presentation and prognosis. Discussion. The diagnosis of cerebral venous thrombosis should be considered in patients with acute, subacute or chronic headache, with or without signs of intracranial hypertension or focal deficits, even in the absence of cerebrovascular risk factors. Treatment should be started as soon as the diagnosis is confirmed and consists of reversal of the underlying cause when known, control of seizures and intracranial hypertension, and antithrombotic therapy.

Avaliação eletroneuromiográfica na fase aguda do acidente vascular cerebral

Pós-graduação em Bases Gerais da Cirurgia - FMB

Associação entre o nível de atividade física, função cognitiva e qualidade de vida em pacientes de hemodiálise

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Funções neuropsicológicas executivas pós acidente vascular encefálico hemorrágico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Correlação entre a escala internacional de acidente vascular cerebral do Instituto Nacional de Saúde (NIHSS) e a penetração laríngea e aspiração laringotraqueal no acidente vascular cerebral isquêmico

Pós-graduação em Bases Gerais da Cirurgia - FMB

Concentração sérica da proteína C reativa como indicador preditivo do prognóstico clínico em indivíduos com hemorragia subaracnóidea aneurísmática

Pós-graduação em Bases Gerais da Cirurgia - FMB

Grau de comprometimento e tempo de trânsito orofaríngeo em disfagia no acidente vascular encefálico

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)