Assuntos
Inibidores das Descarboxilases de Aminoácidos Aromáticos/farmacologia , Benserazida/farmacologia , Dopaminérgicos/farmacologia , Epilepsia do Lobo Temporal , Hipercinese , Levodopa/farmacologia , Transtornos dos Movimentos , Diester Fosfórico Hidrolases/genética , Inibidores das Descarboxilases de Aminoácidos Aromáticos/administração & dosagem , Benserazida/administração & dosagem , Criança , Consanguinidade , Dopaminérgicos/administração & dosagem , Combinação de Medicamentos , Epilepsia do Lobo Temporal/tratamento farmacológico , Epilepsia do Lobo Temporal/genética , Feminino , Humanos , Hipercinese/tratamento farmacológico , Hipercinese/genética , Lactente , Levodopa/administração & dosagem , Transtornos dos Movimentos/tratamento farmacológico , Transtornos dos Movimentos/genética , Irmãos , Sequenciamento do ExomaRESUMO
The SonixGPS™ needle guidance positioning system provides navigation assistance to facilitate needle handling during ultrasound-guided procedures. Each of 20 inexperienced nurse anaesthetists performed 12 different ultrasound-guided tasks in a porcine phantom. Using both in-plane and out-of-plane approaches, they inserted a needle and made contact with metal rods at depths of 2, 4 and 6 cm. We compared their performances without and with navigation as paired observations. Using the out-of-plane approach, navigation yielded shorter execution times (26 s vs 14 s, respectively; p = 0.01) and fewer needle repositionings (8 vs 3, respectively; p = 0.001). Using the in-plane approach, the needle was more visible with navigation assistance: 24% vs 52% of execution time, respectively (95% CI: 44%-12%; p = 0.0025). Better needle visibility was associated with shorter execution times and fewer needle repositionings. Combining ultrasound-guided techniques with the needle guidance positioning system may reduce tissue manipulation, thus improving patient comfort and safety.
Assuntos
Bloqueio Nervoso/métodos , Ultrassonografia de Intervenção/métodos , Animais , Competência Clínica , Humanos , Agulhas , Bloqueio Nervoso/instrumentação , Bloqueio Nervoso/normas , Enfermeiros Anestesistas/normas , Imagens de Fantasmas , Sus scrofaRESUMO
In order to limit the consequences of infantile cerebral palsy (ICP), physiotherapy should start as early as possible. This requires that infants at risk are detected at the earliest age possible. Today, diagnosis is based on visual observation by physicians and as such is influenced by subjective impressions. Objective methods, quantifying the pathological deviation from normal spontaneous motor activity would be preferable as they, for example, allow an inter- and intra-individual comparison of movement. In this paper we have developed a methodology that allows the 3-dimensional acquisition of unconstrained movement in newborn babies, using a motion analysis system. From the recorded movement data we have extracted 53 quantitative parameters that describe the differences between healthy and affected participants. Considered individually, each of these parameters does not permit a conclusive statement to be made as to whether or not the patient is at risk. Cluster analysis based on Euclidian distances therefore has been used to find an optimal combination of eight parameters. The optimal combination has been subsequently applied to organize the participants' movement into preferably homogeneous classes labelled "healthy" or "at risk". Classification was performed utilising quadratic discriminant analysis. The methodology presented allows a reliable discrimination between healthy and affected participants. Overall detection rate reached 73%. This value is expected to rise with increasing patient and norm collective database size.
Assuntos
Paralisia Cerebral/fisiopatologia , Recém-Nascido Prematuro , Atividade Motora/fisiologia , Movimento/fisiologia , Paralisia Cerebral/diagnóstico , Análise por Conglomerados , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Transtornos dos Movimentos , Periodicidade , Medição de RiscoRESUMO
Three large pedigrees of German descent with autosomal dominant "pure" familial spastic paraplegia (FSP) were characterized clinically and genetically. Haplotype and linkage analyses, with microsatellites covering the FSP region on chromosome 14q (locus FSP1), were performed. In pedigree W, we found a haplotype that cosegregates with the disease and observed three crossing-over events, reducing the FSP1 candidate region to 7 cM; in addition, the observation of apparent anticipation in this family suggests a trinucleotide repeat expansion as the mutation. In pedigrees D and S, the gene locus could be excluded from the whole FSP1 region, confirming the locus heterogeneity of autosomal dominant FSP.
Assuntos
Cromossomos Humanos Par 14 , Genes Dominantes , Paraplegia Espástica Hereditária/genética , Alelos , Sequência de Bases , Mapeamento Cromossômico , Troca Genética , DNA Satélite/genética , Feminino , Haplótipos/genética , Humanos , Escore Lod , Masculino , Dados de Sequência Molecular , LinhagemRESUMO
A small percentage (around 1.5%) of pancreatic malignancies are well treatable non-Hodgkin's lymphomas. Two patients with this disease are described. One patient was treated with both surgery and chemotherapy, the other with chemotherapy only. The results in both patients were excellent with complete responses being achieved. The literature on pancreatic non-Hodgkin's lymphomas is reviewed.
