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Abstract: Background: It is challenging to make informed decision in genetic counseling. Shared decision-making provides a chance in balancing the information and preferences between counselors and counselees. However, the status and prescriptions of shared decision-making have not been extensively studied in genetic counseling. Aim: To develop an up-to-date literature review of the shared decision-making in genetic counseling, identify knowledge gaps, and provide inspiration and suggestions for the development and practice of genetic counseling. Methods: "Genetic Counseling" and "Shared decision-making" were used to search in PubMed, Web of Science, Embase, Wanfang, CNKI and CBM databases. The search deadline was March 26, 2021. Results: A total of 22 articles were included, and four themes were identified: how people involved in genetic counseling, different stakeholders involved in SDM, multiple facilitators and barriers to SDM and the effectiveness of SDM in genetic counseling. Conclusion: Each participant needs to recognize their boundaries and make the best effort to involve in the shared decision-making. In the future, multinational studies should be considered for bringing shared decision-making to the global scale and well-designed studies are required to explore the long-term impact of shared decision-making in genetic counseling.
Resumen: Antecedentes: Es un reto tomar una decisión informada en el asesoramiento genético. La toma de decisiones compartida ofrece una oportunidad para equilibrar la información y las preferencias entre los asesores y los pacientes. Sin embargo, el estado y las prescripciones de la toma de decisiones compartida no se han estudiado ampliamente en el asesoramiento genético. Objetivo: Desarrollar una revisión bibliográfica actualizada de la toma de decisiones compartida en el asesoramiento genético, identificar las lagunas de conocimiento y proporcionar inspiración y sugerencias para el desarrollo y la práctica del asesoramiento genético. Métodos: "Genetic Counseling" y "Shared decision-making" se utilizaron para buscar en las bases de datos PubMed, Web of Science, Embase, Wanfang, CNKI y CBM. La fecha límite de búsqueda fue el 26 de marzo de 2021. Resultados: Se incluyó un total de 22 artículos y se identificó cuatro temas: cómo se involucran las personas en el asesoramiento genético, las diferentes partes interesadas involucradas en la GDS, los múltiples facilitadores y barreras para la GDS y la efectividad de la GDS en el asesoramiento genético. Conclusión: Cada participante necesita reconocer sus límites y hacer el mejor esfuerzo para involucrarse en la toma de decisiones compartida. En el futuro, se debe considerar la realización de estudios multinacionales para llevar la toma de decisiones compartida a la escala global y se requieren estudios bien diseñados para explorar el impacto a largo plazo de la toma de decisiones compartida en el asesoramiento genético.
Resumo Antecedentes: Tomar uma decisão informada em aconselhamento genético é um desafio. A tomada de decisão compartilhada (SDM) fornece uma oportunidade para contrabalançar a informação e preferências entre conselheiros e aconselhados. Entretanto, o status e prescrições da tomada de decisão compartilhada não têm sido extensivamente estudados em aconselhamento genético. Objetivo: Desenvolver uma revisão de literatura atualizada sobre a tomada de decisão compartilhada em aconselhamento genético, identificar lacunas no conhecimento e fornecer inspiração e sugestões para o desenvolvimento e prática do aconselhamento genético. Métodos: "Genetic Counseling" e "Shared decision-making" foram usados para pesquisar nos bancos de dados PubMed, Web of Science, Embase, Wanfang, CNKI e CBM. A data limite para a pesquisa foi 26 de março de 2021. Resultados: Um total de 22 artigos foram incluídos e quatro temas foram identificados: como pessoas se envolveram em aconselhamento genético, diferentes interessados envolvidos em SDM, facilitadores e barreiras múltiplas à SDM e efetividade da SDM em aconselhamento genético. Conclusão: Cada participante necessita reconhecer seus limites e fazer os melhores esforços para se envolver em tomada de decisão compartilhada. No futuro, estudos multinacionais devem ser considerados para trazer a tomada de decisão compartilhada a uma escala global e estudos bem desenhados são requeridos para explorar o impacto a longo prazo da tomada de decisão compartilhada em aconselhamento genético.
Assuntos
Humanos , Tomada de Decisão Compartilhada , Aconselhamento GenéticoRESUMO
Objective To investigate the relationship of complements C3 and C4 with essential hypertension and its risk factors, homocysteine (HCY) and blood lipids.Methods We selected 20 healthy subjects for physical checkup as control group and 45 patients with hypertension as hypertension group.According to The Guidelines for Prevention and Treatment of Dyslipidemia in Chinese Adults, the hypertension group was divided into lipid regulating therapy group and non-lipid regulating therapy group.We determined the levels of complements C3 and C4, HCY, total cholesterol, low density lipoprotein and apolipoprotein.Pearson linear correlation regression analysis was used to analyze the correlation of the complements with HCY and blood lipid indexes.Results Complements C3 and C4 were significantly higher in the hypertension group than in the control group (P0.05) or to homocysteine (P=0.074, P=0.894).Conclusion Complements C3 and C4 are closely related to essential hypertension.Activation of the complement system is one of the important risk factors for hypertension.The lipid regulating therapy can significantly alleviate immune damage in patients with essential hypertension.Hyperhomocysteinemia is an independent risk factor for essential hypertension.
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Objective:To study the expression of CXCL 8 in the serum and CXCL8 mRNA in the peripheral blood mononuclear cells(PBMCs) of the children with Mycoplasma pneumoniae pneumonia (MPP) and its clinical significance.Methods: Forty-eight children(severe cases 12,light cases 36) with MPP were recruited from October 2013 to March 2015 in the Maternal and Child Health-Care Hospital of Huainan.The concentration of the CXCL8 in serum and the level of CXCL8 mRNA in the PBMCs were measured by enzyme linked immunosorbent assay ( ELISA) and polymerase chain reaction ( PCR).Taking GAPDH as the internal reference ,the ratio of lgcDNA/lgGAPDH was regarded as the extreme level of CXCL 8 mRNA.Results: The serum level of CXCL8 and expression of CXCL8 mRNA in PBMCs in the children with MPP were ( 298.917 ±51.860 ) pg/ml and ( 1.848 ±0.525 ) lgcDNA/lgGAPDH.Compared with the normal control ,there were significant differences between the two groups ( P0.05).However, the expression of CXCL8 mRNA in peripheral blood of the children with severe illness was significantly higher than those in light cases (P<0.05).Intravenous infusion of Erythromycin was provided in the acute phase for seven to ten days ,so that the children′s condition could be significantly controlled , and the symptoms of pulmonary inflammation were also relieved .Followed by the use of sequential therapy of Azithromycin for about two to three weeks ,the children′s condition were gradually from acute stage to recovery stage .At this time,the CXCL8 and its mRNA levels in peripheral blood of the sick children were all significantly decreased comparing with those in the acute stage(P<0.05).Conclusion: The expression of CXCL8 and its mRNA were increased in the peripheral blood of the sick children with Mycoplasma pneumonia ,and also correlated with the severity of the disease .CXCL8 can participate in the pathogenesis of Mycoplasma pneumonia ,and has a certain cue effect on the severity and prognosis of the disease .Azithromycin can reduce the content of CXCL8 in serum of the sick children via the pathway of inhibiting the proliferation of Mycoplasma pneumoniae ,and down regulate the expression of mRNA ,so that the immune injury mediated by Mycoplasma pneumoniae may be gradually inhibited .
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Objective To compare the saccharometabolism with the pancreatic islets functions and insulin resistance index in children with severe stress. Methods Thirty children with severe stress and 30 healthy children in control group were tested. The levels of fasting blood glucose (FBG), fasting insulin (FINS) and fasting C - peptide (FCP) were detected by radioimmunoassay respectively and insulin sensitivity index (ISI), insulin resistance index (IR) and fasting blood cell function index (FBCI) were calculated statistically. Results There were significant differences between the children with severe stress and the normal controls in the levels of FINS, FCP and FBG,(all P0.05). Conclusion There is insulin resistance with the significant decrease in the insulin sensitivity index and significant increase in insulin resistance index in the children with severe stress, which may cause the disorder in glucose metabolism in children with severe stress.