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1.
Scand J Med Sci Sports ; 30(10): 1810-1826, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32484976

RESUMO

While the pathoetiology is disputed, a wide array of treatments is available to treat tendinopathy. The most common treatments found in the literature include therapeutic modalities, exercise protocols, and surgical interventions; however, their effectiveness remains ambiguous. The purpose of this study was to perform a systematic review of systematic reviews to determine the ability of therapeutic interventions to improve pain and dysfunction in patients with tendinopathy regardless of type or location. Five databases were searched for systematic reviews containing only randomized control trials to determine the effectiveness of treatments for tendinopathies based on pain and patient-reported outcomes. Systematic reviews were assessed via the Assessment of Multiple Systematic Reviews (AMSTAR) for methodological quality. From the database search, 3,295 articles were found, 107 passed the initial inclusion criteria. After further review, 25 systematic reviews were included in the final qualitative analysis. The AMSTAR scores were relatively high (8.8 ± 1.0) across the 25 systematic reviews. Eccentric exercises were the most common and consistently effective treatment for tendinopathy across systematic reviews. Low-level laser therapy and extracorporeal shockwave therapy demonstrated moderate effectiveness, while platelet-rich plasma injections demonstrated inconclusive evidence on their ability to decrease tendinopathy-related pain and improve function. Corticosteroids also showed some effectiveness for short-term pain, but for the long-term use deemed ineffective and at times contraindicated. Regarding surgical options, minimally invasive procedures were more effective compared to open surgical interventions. When treating tendinopathy regardless of location, eccentric exercises were the best treatment option to improve tendinopathy-related pain and improve self-reported function.


Assuntos
Manejo da Dor/métodos , Revisões Sistemáticas como Assunto , Tendinopatia/terapia , Corticosteroides/uso terapêutico , Terapia Combinada/métodos , Bases de Dados Factuais/estatística & dados numéricos , Agulhamento Seco/métodos , Terapia por Exercício/métodos , Tratamento por Ondas de Choque Extracorpóreas , Humanos , Terapia a Laser , Terapia com Luz de Baixa Intensidade/métodos , Procedimentos Cirúrgicos Minimamente Invasivos , Medição da Dor/métodos , Medidas de Resultados Relatados pelo Paciente , Plasma Rico em Plaquetas , Ensaios Clínicos Controlados Aleatórios como Assunto/estatística & dados numéricos
2.
Mol Autism ; 10: 35, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31649809

RESUMO

Background: PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associated with PHF21A haploinsufficiency. Methods: Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of PHF21A in multiple human tissues including 13 different brain tissues. Protein-DNA modeling was performed to substantiate the pathogenicity of the missense mutation. Results: We have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. Furthermore, PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype. Conclusion: Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype.


Assuntos
Transtorno Autístico/genética , Comportamento , Anormalidades Craniofaciais/genética , Epilepsia/genética , Histona Desacetilases/genética , Deficiência Intelectual/genética , Hipotonia Muscular/genética , Adolescente , Sequência de Aminoácidos , Transtorno Autístico/complicações , Encéfalo/metabolismo , Criança , Pré-Escolar , Anormalidades Craniofaciais/complicações , Epilepsia/complicações , Feminino , Histona Desacetilases/química , Histona Desacetilases/metabolismo , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Hipotonia Muscular/complicações , Mutação/genética , Domínios Proteicos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Síndrome
3.
Arequipa; UNSA; 1995. 88 p. ilus.
Tese em Espanhol | LILACS | ID: lil-192161

RESUMO

El presente trabajo de investigación se realizó en todas las Urocs del distrito de Paucarpata de la Provincia de Arequipa en el año 1994. El objetivo general fue: determinar la labor que cumple el promotor de la UROC y los conocimientos de la población sobre el manejo de Eda en el hogar. Los objetivos específicos fueron: a) Identificar la labor preventivo-promocional del promotor de la UROC a través de los conocimientos de la población en el manejo de EDA en el hogar. b) Verificar los conocimientos del promotor de la UROC y su relación con los conocimientos del poblador en el manejo de EDA en el hogar. c) Determinar los conocimientos de la población en el manejo de EDA en el hogar por las capacitaciones recibidas por el promotor. Considerando como hipótesis General: La labor que cumple el promotor de la UROC determina que la población tenga mayor conocimiento sobre el manejo de EDA en el hogar. Para fundamentar el trabajo de investigación se revisó dentro del marco teórico los siguientes aspectos: - Antecedentes. - Revisión de la literatura. Dentro de esto tenemos: - Generalidades - Diarreas: Tipos de Diarrea, Epidemiología, Etiología. - Unidad de Rehidratación Oral(UROC): Definición, Objetivos, Equipamiento, Funcionamiento, Actividad del Promotor de la UROC. -Evaluación del Estado de Hidratación del niño con diarrea:CCuadro, Manejo de la Diarrea en el Hogar: Plan A, Terapia de Rehidratación Oral: (TRO, Bases científicas) - Características: Rol de la Enfermera, Participación de la Población. Teniendo como variables: - Independiente: Labor que cumple el Promotor de la Uroc. - Dependiente: Conocimientos de la Población sobre el manejo de EDA en el hogar. En la recolección de la información se utilizó 3 formularios estructurados: - El primero consta de una entrevista para el voluntario de la UROC. - El segundo consta de una guía de observación para la UROC. El tercero consta de una entrevista al usuario que acude a la UROC. Se procedió al análisis e interpretación y procesamiento de datos mediante la prueba estadística del Chi Cuadrado.


Assuntos
Humanos , Pessoal Técnico de Saúde , Pessoal Técnico de Saúde/educação , Pessoal Técnico de Saúde/provisão & distribuição , Pessoal Técnico de Saúde/estatística & dados numéricos , Disenteria/classificação , Disenteria/diagnóstico , Disenteria/epidemiologia , Disenteria/patologia , Disenteria/prevenção & controle , Disenteria/terapia , Conhecimentos, Atitudes e Prática em Saúde , População
4.
Bogotá, D.C; s.n; jun. 1987. 20 p. tab.
Tese em Espanhol | LILACS | ID: lil-189973

RESUMO

Se propuso una investigación para conocer las diferencias existentes entre placentas provenientes de embarazos normales y de alto riesgo desde el punto de vista de características morfológicas macroscópicas. Se corelacionaron clínico- morfológicamente , 19 embarazos incluyendo estados hipertensivos asociados al embarazo e incompatibilidad Rh y 23 embarazos supuestamente normales. Se encontró que en los embarazos normales hay relación directa entre pesos fetales y placentarios, hay peso promedio mayor de los recien nacidos y sus placentas y edad gestacional media mayor. En los embarazos de alto rieso hay tendencia a producir recien nacidos pre-término con bajo peso para su edad gestacional y placentas pequeñas. En los embarazos con pre-eclampsia se encontró aumento de la relación peso placentario / peso fetal sugiriendo que ante un medio materno desfavorable la placenta se hipertrofía compensatoriamente. Se sugiere para estudios posteriores hacer una investigación utilizando la microscopía de contraste de fase y la inmunofluorescencia


Assuntos
Gravidez , Placenta , Gravidez , Risco
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