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1.
Front Hum Neurosci ; 17: 1270430, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37929227

RESUMO

Introduction: Deep brain stimulation (DBS) is a well-documented therapy for dystonia utilized in many adult and pediatric movement disorders. Pedunculopontine nucleus (PPN) has been investigated as a DBS target primarily in adult patients with dystonia or dyskinesias from Parkinson's disease, showing improvement in postural instability and gait dysfunction. Due to the difficulty in targeting PPN using standard techniques, it is not commonly chosen as a target for adult or pediatric pathology. There is no current literature describing the targeting of PPN in DBS for childhood-onset dystonia. Methods: Two pediatric and one young adult patient with childhood-onset dystonia who underwent DBS implantation at our institution were identified. Patient 1 has Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome. Patient 2 has Glutaric Aciduria Type 1 (GA1). Patient 3 has atypical pantothenate kinase-associated neurodegeneration (PKAN). PPN was identified as a potential target for these patients due to axial or orofacial dystonia. Pre- and post-operative videos taken as part of routine clinical assessments were evaluated and scored on the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS). All patients had permanent electrodes placed bilaterally in PPN and globus pallidus internus (GPi). A Likert scale on quality of life was also obtained from the patient/parents as applicable. Results: Significant programming was necessary over the first 3-12 months to optimize patients' response to stimulation. All patients experienced at least a 34% improvement in the BFMDRS score. Patients 2 and 3 also experienced an over 30% improvement in BADS score. All patients/parents appreciated improvement in quality of life postoperatively. Discussion: Deep brain stimulation in PPN was safely and successfully used in two pediatric patients and one young adult patient with childhood-onset dystonia. These patients showed clinically significant improvements in BFMDRS scoring post operatively. This represents the first reported DBS targeting of PPN in pediatric patients, and suggests that PPN is a possible target for pediatric-onset dystonia with axial and orofacial symptoms that may be refractory to traditional pallidal stimulation alone.

2.
Rev Chilena Infectol ; 34(2): 116-119, 2017 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-28632824

RESUMO

BACKGROUND: As alternative for patients that fear genital examination, we assessed adolescent's comfort and ease with self-collected samples for nucleic acid amplification testing for sexually transmitted infections. PATIENTS AND METHODS: Sexually active Chilean adolescents and youth under 25 years (174 males and 117 females) were enrolled. Females used self-collected vaginal swabs and males collected first-stream urine. A satisfaction survey evaluating self-sampling system was applied. RESULTS: Self-collection was considered easy in 99.3% of the interviewees (CI 95% 0.88-0.98). In women, 79.3% preferred vaginal self-collected samples than pelvic exam (CI 95% 0.73-0.85). In men, 80.3% preferred self-collected first-stream urine to urethral swabs (CI 95% 0.73-0.87). Assuming that self-collected sampling were available, 89.6% of women (CI 95% 0.85-0.94) and 93.2% of men (CI 95% 0.89-0.98) would be prone to be tested more often. Ease of self-collected sampling is not associated with age, gender, educational level or poverty. CONCLUSIONS: Chile currently does not have sexually transmitted infections surveillance or screening programs for youth and adolescents. Given self-collected sampling's good acceptability, it could be successfully used when these programs are implemented.


Assuntos
Satisfação do Paciente/estatística & dados numéricos , Infecções Sexualmente Transmissíveis/diagnóstico , Manejo de Espécimes/métodos , Adolescente , Chile , Feminino , Humanos , Masculino , Técnicas de Amplificação de Ácido Nucleico , Inquéritos e Questionários , Coleta de Urina/métodos , Esfregaço Vaginal/métodos , Adulto Jovem
3.
Rev. chil. infectol ; 34(2): 116-119, abr. 2017.
Artigo em Espanhol | LILACS | ID: biblio-844454

RESUMO

Background: As alternative for patients that fear genital examination, we assessed adolescent's comfort and ease with self-collected samples for nucleic acid amplification testing for sexually transmitted infections. Patients and Methods: Sexually active Chilean adolescents and youth under 25 years (174 males and 117 females) were enrolled. Females used self-collected vaginal swabs and males collected first-stream urine. A satisfaction survey evaluating self-sampling system was applied. Results: Self-collection was considered easy in 99.3% of the interviewees (CI 95% 0.88-0.98). In women, 79.3% preferred vaginal self-collected samples than pelvic exam (CI 95% 0.73-0.85). In men, 80.3% preferred self-collected first-stream urine to urethral swabs (CI 95% 0.73-0.87). Assuming that self-collected sampling were available, 89.6% of women (CI 95% 0.85-0.94) and 93.2% of men (CI 95% 0.89-0.98) would be prone to be tested more often. Ease of self-collected sampling is not associated with age, gender, educational level or poverty. Conclusions: Chile currently does not have sexually transmitted infections surveillance or screening programs for youth and adolescents. Given self-collected sampling's good acceptability, it could be successfully used when these programs are implemented.


Introducción: Como alternativa para pacientes que temen al examen genital o para aquellos asintomáticos, se evaluó la satisfacción de adolescentes con el sistema de autotoma -muestra tomada por el propio paciente- para amplificación de ácidos nucleicos y determinación de infecciones de transmisión sexual (ITS). Material y Método: Se enrolaron 174 mujeres y 117 hombres menores de 25 años sexualmente activos. Las mujeres se realizaron autotoma con tórula vaginal. Los hombres, autotoma de orina de primer chorro. Se aplicó encuesta de satisfacción. Resultados: A 99,3%, le resultó fácil obtener muestras mediante autotoma (IC 95% 0,88-0,98). En mujeres, 79,3% prefirió la autotoma vaginal por sobre el examen pélvico (IC 95% 0,73-0,85). En hombres, 80,3% prefirió la autotoma de orina por sobre el hisopado uretral (IC 95% 0,73-0,87). Si la autotoma estuviera disponible, 89,7% de las mujeres (IC 95% 0,85-0,94) y 93,2% de los hombres (IC 95% 0,89-0,98) estarían dispuestos a someterse a un examen de ITS en forma más seguida. Encontrar fácil la autotoma no se asoció con edad, género, escolaridad ni pobreza. Conclusiones: Chile aún no tiene programas de vigilancia o detección de ITS para jóvenes y adolescentes. Dada la buena aceptabilidad de la autotoma, se podría emplear exitosamente cuando estos programas se implementen.


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Manejo de Espécimes/métodos , Doenças Bacterianas Sexualmente Transmissíveis/diagnóstico , Satisfação do Paciente/estatística & dados numéricos , Esfregaço Vaginal/métodos , Chile , Inquéritos e Questionários , Técnicas de Amplificação de Ácido Nucleico , Coleta de Urina/métodos
4.
J Fluor Chem ; 129(10): 978-982, 2008 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19802334

RESUMO

Fluorous-tagged protecting groups are attractive tools for elongating carbohydrate chains in oligosaccharide synthesis. To eliminate the accumulation of failed sequences during automated oligosaccharide synthesis conditions, an additional C(8)F(17) ester derived protecting group was attached to the glycosyl donor to better retain the desired doubly-tagged glycosylation product on fluorous solid phase extraction (FSPE) cartridges. Initial studies show that the double-fluorous-tagging strategy offers a robust enough separation using a commercial FSPE cartridge using simple gravity filtration to separate the desired product from the singly-fluorous-tagged starting materials and their decomposition products. In addition, removal of the fluorous acetate and its byproducts after sodium methoxide treatment and neutralization required only dissolution of the desired sugar in toluene and subsequent removal of the toluene layer from the denser fluorous byproducts.

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