Objective: The management of vascular anomalies is complex and requires a multidisciplinary team with a combination of medical, surgical, and intervention treatments. Medical treatment is limited and has conflicting results. Off-label use of mammalian target of rapamycin inhibitors shows promising results. The objective of this study was to systematically evaluate the literature published about the efficacy and safety of sirolimus in the treatment of vascular anomalies. Methods: A systematic review of the published literature was conducted using the PubMed database and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Results: There were 73 articles included: 2 randomized controlled studies, 2 nonrandomized prospective studies, and 69 retrospective case reports and case series. In total, 373 patients were included. Sirolimus was administered topically to 56 patients and orally to 317 patients. Sirolimus was highly effective in the treatment of vascular tumors associated with Kasabach-Merritt phenomenon (95.5% of the patients clinically improved and 93% had normalization of coagulopathy), venous malformations (size reduction was observed in 88.9% of patients), and lymphatic malformations (clinical improvement in 94.9% of patients). Topical sirolimus results were conflicting. Arteriovenous malformations were not improved by sirolimus. Conclusions: Low-level evidence suggests that sirolimus can improve the prognosis of vascular anomalies, most notably vascular tumors associated with life-threatening coagulopathy and venous and lymphatic malformations. Further research is needed to establish the benefits of sirolimus in the management of vascular anomalies.
The most effective mydriasis was obtained within the Mydriasert group, followed by the topical mydriasis group. From the cardiovascular point of view, intracameral mydriasis was the safest and topical mydriasis the least safe.
The expansion in the C9orf72 gene has been recently reported as a genetic cause of Huntington's disease (HD) phenocopies. We aim to assess the frequency of the C9orf72 gene expansion in a Portuguese HD phenocopies cohort. Twenty HD phenotype-like patients without diagnosis were identified in our institutional database. C9orf72 gene expansion was detected using repeat-primed PCR. Clinical files were reviewed to characterize the phenotype of expansion-positive cases. One patient (5%) was positive for the C9orf72 expansion. A second patient presented 27 repeats-within the intermediate size interval. Both had familial neuropsychiatric disease characterized by diverse movement disorders, dementia, and psychiatric dysfunction that was distinct in severity and clinical expression. C9orf72 disease is clinically heterogeneous and without evident imaging markers. The definition of the role of intermediate alleles and of the pathological threshold for C9orf72 repeat expansions may have diagnostic implications.
Recebido a 2 de junho de 2014; aceite a 29 de agosto de 2014 Disponível na Internet a 11 de outubro de 2014 PALAVRAS-CHAVEÚlcera do pé diabético; Epidemiologia; Neuropatia periférica; Doença arterial periférica; Consulta multidisciplinar ResumoIntrodução: A diabetes mellitus é responsável por 70% das amputações não traumáticas do membro inferior e 85% destas são precipitadas por úlceras. Objetivo ---caracterização epidemiológica e resultado da intervenção dos utentes da consulta multidisciplinar do pé diabético. Materiais e métodos: Estudo observacional retrospetivo das primeiras consultas realizadas no âmbito da consulta multidisciplinar do pé diabético, durante um semestre. Revisão do processo clínico e avaliação das características epidemiológicas, investigação clínica realizada, meios complementares de diagnóstico e o resultado final (cicatrização da lesão, amputação major, não cicatrização em um ano ou morte). Resultados: Realizaram-se 361 primeiras consultas do pé diabético no período em estudo, 82,3% por ulceração (31,3% neuropáticos e 68,7% neuroisquémicos). Dos doentes seguidos, 78% obtiveram cicatrização das lesões (com ou sem amputação minor), 7,7% não obtiveram cicatrização da lesão após um ano de seguimento, 10,1% foram submetidos à amputação major e 4,2% faleceram durante o seguimento. Os doentes com doença arterial periférica apresentaram menor probabilidade de cicatrização (70,6 vs. 89,4%, p = 0,004) e risco aumentado de amputação major (15,7 vs. 1,5%, p = 0,003). A nefropatia diminuiu a probabilidade de cicatrização (50 vs. 82,6%, p = 0,008) e aumentou o risco de amputação major (29,1 vs. 6,9%, p = 0,008). Os doentes com dependência de terceiros apresentaram maior risco de amputação major (22,9 vs. 6,8%, p = 0,008). * Autor para correspondência. Correio eletrónico: vitormiguelferreira@hotmail.com (V. Ferreira).
RESUMOO aumento da esperança de vida, do número de idosos e do número de idosos dependentes (ID's), requer a articulação de diversos cuidados formais e informais. Reconhece-se o papel dos cuidadores informais (CI's) e, também, no âmbito da saúde, a importância da visitação domiciliária. Nesta, geralmente, a atenção da equipa centra-se no idoso dependente (ID), relegando para segundo plano o cuidador informal. Este, pela responsabilidade assumida, pode padecer de uma sobrecarga com efeitos nefastos em diferentes dimensões da sua vida. Para perceber quais os fatores que mais influenciam a sobrecarga dos CI's, realizou-se um estudo quantitativo, no concelho de Belmonte, que envolveu uma amostra de CI's e ID's. O instrumento de colheita de dados, de administração indireta, aplicado entre 2012 e 2013, incluía: Questionários Gerais, Escala de Pfeiffer Short Portable Mental Status Questionary; Índice de Barthel e Escala de Zarit. Analisaram-se e identificaram-se as características contextuais, a situação clínica do CI e a sua perceção da qualidade de vida face à sobrecarga. A maioria dos CI´s apresenta níveis de sobrecarga elevados, principalmente os que são mais velhos, cônjuges, com baixa formação, com patologias e que consideram ter pior qualidade de vida que as pessoas da mesma idade e género.Palavras-chave: Cuidadores informais, idosos dependentes, sobrecarga ABSTRACTThe increase in life expectancy, the number of elderly and the number of dependent elderly (DE's), requires the coordination of various formal and informal care. It recognizes the role of informal caregivers (IC's) and, in health, the importance of home visitation. Generally, the attention of the homevisitation team focuses on the dependent elderly (DE), relegating to the background the informal caregiver (IC). The responsibility assumed by IC can bring an overload with losses in different dimensions of his life. This study intend to perceive which factors most influence the burden of IC's. A quantitative study was conducted in county of Belmonte based on a sample of IC's and DE's. The data collection instrument was indirect administration, applied between 2012 and 2013, and it contained: General Questionnaires, Scale Portable Mental Status Pfeiffer Questionnaire, Barthel Index and Burden Interview of Zarit. The contextual characteristic, the clinical condition of the IC and his perception of quality of life due to the overload were analyzed and identified. The majority of IC's of the sample has high levels of burden, mainly IC's older, married/spouse, low level of education, with pathologies and who reported worse quality of life conditions. Keywords: Informal caregivers, elderly dependents, overload INTRODUÇÃOCuidar é uma prática milenar, universal e de todos os tempos, desde que a vida existe existem cuidados, uma vez que é necessário tomar conta da vida para que esta possa permanecer (Pereira, 2008). Cuidar é, para Colliére (1989:29), "manter a vida garantindo a satisfação de um conjunto de necessidades indispensáveis à vida, mas que são diversifi...
Home care nursing has specific characteristics, which clearly influence the adoption of risk behaviors by the nurses.
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