Andes pediatrica : revista Chilena de pediatria最新文献_第8页

[Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease]. [镰状细胞性贫血突变的群体特征及其治疗：迈向疾病个性化医疗的一步]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4752

Bernardita Cayupe, Rafael Barra

{"title":"[Population characterization of mutations for sickle cell anemia and its treatment: One step towards personalized medicine for the disease].","authors":"Bernardita Cayupe, Rafael Barra","doi":"10.32641/andespediatr.v95i1.4752","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.4752","url":null,"abstract":"Sickle cell anemia (SCA) is the most common genetic disease worldwide. There are countries with massive public health programs for early detection of this condition. In the literature, several specific haplotypes or single-base polymorphic variants (SNPs) have been associated with the SCA prognosis.Objective: To demonstrate the significant correlation of SNPs relevant to the diagnosis and prognosis of SCA among different ethnic groups.Methodology: we analyzed population frequencies and correlations of several SNPs related to the prognosis of SCA (i.e., baseline fetal hemoglobin levels), response to hydroxyurea treatment, and response to other drugs used in the SCA treatment, collected from validated genomic databases among different ethnic groups.Results: The calculation of the Hardy-Weinberg equilibrium and the logistic regression was successful in classifying the ethnic groups as African (0 = 0.78, 1 = 0.89), and with a lower efficiency as American (AMR) (0 = 0.88, 1 = 0.00), East Asian (EAS) (0 = 0.80, 1 = 0.00), European (EUR) (0 = 0.79, 1 = 0.00), and South Asian (SAS) (0 = 0.80, 1 = 0.00).Conclusions: The results extend those from previous reports and show that the profile of most of the SNPs studied presented statistically significant distributions among general ethnic groups, pointing to the need to carry out massive early screening of relevant SNPs for SCA in patients diagnosed with this disease. It is concluded that the application of a broad mutation detection program will lead to a more personalized and efficient response in the treatment of SCA.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"41-52"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Transform children and adolescents into protagonists of their health care]. [将儿童和青少年转变为其医疗保健的主角]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.5103

Blanca Bórquez Polloni

{"title":"[Transform children and adolescents into protagonists of their health care].","authors":"Blanca Bórquez Polloni","doi":"10.32641/andespediatr.v95i1.5103","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.5103","url":null,"abstract":"More and more naturally we recognize children and adolescents (NNA) as social actors capable of managing for themselves, according to their age and level of development, specific aspects of their lives; spaces in which we gradually and correlatively grant them greater scope for personal action. This paradigmatic change in the understanding of children and adolescents has been influenced by the adoption of the Convention on the Rights of the Child (CRC) in 1989. It meant moving forward from a until then welfare perspective that observed children and adolescents as subject objects of protection, as passive subjects, to the guardianship of responsible adults (doctrine of guardianship protection), to their consideration as subjects of law, that is, as holders and main agents in the exercise of their rights, with respect to which adults have duties of protection. orientation and guidance (doctrine of comprehensive protection). Reviewing the terms of the Convention and the adjustments made to the national legal framework, this article explores how this new model, based on human rights, is extended and in what terms, to the healthcare space.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"10-16"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Gastrointestinal symptoms and problems in children cared by pediatric palliative care teams. Observational study]. [儿科姑息关怀团队护理的儿童的胃肠道症状和问题。观察研究]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/aodespediatr.v95i1.4813

María Mercedes Bernadá Scarrone, Valeria Le Pera Garófalo

{"title":"[Gastrointestinal symptoms and problems in children cared by pediatric palliative care teams. Observational study].","authors":"María Mercedes Bernadá Scarrone, Valeria Le Pera Garófalo","doi":"10.32641/aodespediatr.v95i1.4813","DOIUrl":"https://doi.org/10.32641/aodespediatr.v95i1.4813","url":null,"abstract":"Gastrointestinal symptoms and problems (GI- SP) frequently cause discomfort and suffering in pediatric patients with life-threatening and/or life-limiting illnesses (LTI/LLI). Pediatric palliative care (PPC) professionals should be aware of them and perform a comprehensive approach.Objective: To determine the prevalence of GI- SP in patients treated in PPC units and to describe the pharmacological and non-pharmacological measures prescribed.Patients and method: Observational, prospective, multicenter, prospective study in patients with LTI/LLI, seen by PPC teams in Uruguay. The variables analyzed included age, sex, origin, type of LTI/LLI, presence of mucositis, vomiting, swallowing disorders, abdominal pain, constipation, diarrhea, digestive bleeding, problems with digestive prosthesis, and prescribed pharmacological and non-pharmacological treatment.Results: 10 out of 16 PPC teams participated. 96 out of 436 patients seen presented GI- SP (22%). Median age was 4.2 years (1 month-18 years).Lti/lli: 65% neurological and 7% oncological. The 96 patients had 114 consultations; 50% had 2 or more GI- SP per consultation. GI- SP observed: swallowing disorders (57%), constipation (53%), nausea and/or vomiting (24%), gastrostomy problems (17%), abdominal pain (10%), digestive bleeding (3%), and diarrhea (2%). There were variable prescriptions of pharmacological and non-pharmacological measures; only 50% of those with swallowing disorder received speech and hearing therapy.Conclusions: GI- SP motivated consultations in all PPC settings, frequently due to 2 or more GI- SP. Swallowing disorders and gastrostomy complications are frequent but not very visible problems in PPC. According to the comprehensive approach, pharmacological and non-pharmacological measures were implemented.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"24-33"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140868013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Spinal Muscular Atrophy with early presentation, perspectives for its treatment in Chile]. [早期表现的脊髓肌肉萎缩症，智利的治疗前景]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.5087

Carlos Valdebenito Parra, Francisco Prado Atlagic, Antonio Huerta Armijo, Sofía Aros Aránguiz

引用次数: 0

Response to the letter of editor entitled: Smallpox eradication to Monkeypox emergence: Comment. 对题为 "从根除天花到猴痘的出现 "的编辑来信的回复：评论。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.5071

Elba Wu Hupat

引用次数: 0

[Correlation between transcutaneous bilirubinometry and serum bilirubin in newborns ≥ 35 weeks]. [≥35周新生儿经皮胆红素测定法与血清胆红素之间的相关性]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4851

Arantxa Vidal Esteban, Inmaculada Concepción Becerra Fernández, María José Rivero Martin

{"title":"[Correlation between transcutaneous bilirubinometry and serum bilirubin in newborns ≥ 35 weeks].","authors":"Arantxa Vidal Esteban, Inmaculada Concepción Becerra Fernández, María José Rivero Martin","doi":"10.32641/andespediatr.v95i1.4851","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.4851","url":null,"abstract":"Clinical control and monitoring of bilirubin in the neonatal stage are essential to avoid toxicity in the central nervous system.Objective: to determine the correlation between transcutaneous bilirubin (TcB) and total serum bilirubin (TSB) levels in newborns ≥ 35 weeks.Patients and method: observational, cross-sectional, analytical, retrospective study that included 90 neonates of gestational age ≥ 35 weeks with mucocutaneous jaundice who underwent TcB and TSB measurement simultaneously between June 1, 2022, and January 31, 2023. Both variables were compared, determining their correlation.Results: the validity indicators were analyzed, obtaining 100% sensitivity and negative predictive value. The mean of TcB determinations was 14.84 mg/dl ± 2.27 and that of TSB was 13.1 mg/dl ± 2.39. The correlation obtained indicates that both variables are related, which is a direct correlation and, according to the prediction equation, there is an appropriate correlation between them. It was determined that TcB overestimated TSB in 95.56% of the determinations, and underestimated TSB in the rest (4.44%). Simultaneous measurements of TcB and TSB were different in all determinations with a mean difference of 1.72 ± 1.48.Conclusions: the non-invasive TcB method can be used as an initial screening tool for the neonatal population ≥ 35 weeks, given its adequate sensitivity and negative predictive value.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"34-40"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Health and rights in children and adolescents: know the regulatory framework to improve clinical practice]. [儿童和青少年的健康与权利：了解监管框架以改进临床实践]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4977

Blanca Bórquez Polloni

引用次数: 0

[Body dissatisfaction, self-esteem, depressive symptoms, and nutritional status in adolescents]. [青少年的身体不满意度、自尊、抑郁症状和营养状况]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4779

Camila Morán, Montserrat Victoriano, Jaime Parra, Ximena Ibacache, Ruth Pérez, Julieta Sánchez, Katia Sáez, Constanza Mosso

{"title":"[Body dissatisfaction, self-esteem, depressive symptoms, and nutritional status in adolescents].","authors":"Camila Morán, Montserrat Victoriano, Jaime Parra, Ximena Ibacache, Ruth Pérez, Julieta Sánchez, Katia Sáez, Constanza Mosso","doi":"10.32641/andespediatr.v95i1.4779","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.4779","url":null,"abstract":"In adolescence and especially in females, greater body dissatisfaction has been evidenced, which is defined as a negative evaluation of one's own body, being a strong predictor of eating disorders and obesity.Objective: To relate body dissatisfaction with self-esteem, depression, and body mass index in adolescents.Subjects and method: Quantitative, correlational, and cross-sectional study in a sample of 397 school adolescents (180 males and 217 females) from Concepción, Chile, aged 10 to 19 years, to whom the following instruments were applied: Body Shape Questionnaire (BSQ) to assess body dissatisfaction, Rosenberg Self-Esteem Scale, Beck's Depression Inventory-II for those older than 14 years, and Birleson Depression Self-Rating Scale for those younger than 14 years. Body mass index z-score was determined. Spearman's correlation coefficient was estimated for all variables.Results: Body dissatisfaction was reported in 54.9 % of females and 18.3 % of males. Body dissatisfaction was positively correlated with age, z-BMI, and depression (p < 0.01) and negatively correlated with self-esteem (p < 0.01). When body dissatisfaction was differentiated by sex, the same significant correlations remained, except for age.Conclusions: The results confirm the relationship between body dissatisfaction with self-esteem, depression, and BMI. The importance of promoting healthy self-esteem and body image from an early age to prevent eating disorders and obesity is emphasized.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"69-76"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140872321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Tomography guided biopsy for the diagnosis of pediatric pulmonary Cryptococcosis]. [断层扫描引导活检诊断小儿肺隐球菌病]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4816

Juan José Bosch Fragueiro, María Macarena Iudica

{"title":"[Tomography guided biopsy for the diagnosis of pediatric pulmonary Cryptococcosis].","authors":"Juan José Bosch Fragueiro, María Macarena Iudica","doi":"10.32641/andespediatr.v95i1.4816","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.4816","url":null,"abstract":"Pulmonary cryptococcosis is a lung infection caused by the Cryptococcus yeast. It is rare in pediatrics, especially in immunocompetent children. The diagnosis of pulmonary cryptococcosis can be challenging due to the low specificity of symptoms, low index of suspicion, and limited diagnostic resources.Objective: To describe a clinical case of pulmonary cryptococcosis in an immunocompetent adolescent, detailing the diagnostic approach.Clinical case: A 15-year-old patient, previously healthy, from a rural town, who consulted due to cough and a 1-month rib stitch pain, without fever or associated respiratory difficulty, with two images of condensation in the left lung on the chest x-ray. In the Computed Tomography, the images showed a nodular appearance. Due to suspicion of neoplastic pathology, a Positron Emission Tomography was performed, which showed hypermetabolic nodular lesions. The tomographic characteristics could correspond to fungal or granulomatous involvement. Considering the images and epidemiological risk factors such as rural origin and contact with bird droppings, the possibility of a mycosis was considered. A lung needle biopsy was performed under tomographic guidance. Cryptococcus neoformans was identified in the microbiology laboratory culture. The patient received treatment with itraconazole and fluconazole with good clinical and imaging response after 10 months of therapy and follow-up.Conclusion: In immunocompetent patients with a nonspecific clinical presentation, images can guide the diagnosis of pulmonary cryptococcosis, and an etiological search is essential to confirm it. In our case, the CT-guided needle biopsy was of great diagnostic utility.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"77-83"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Key considerations in the process of assent in children and adolescents: an integrative review]. [儿童和青少年同意过程中的主要考虑因素：综合评述]。

Andes pediatrica : revista Chilena de pediatria Pub Date : 2024-02-01 DOI: 10.32641/andespediatr.v95i1.4968

Paula Vega Vega, Claudia Miranda Castillo, Ivonne Vargas Celis

{"title":"[Key considerations in the process of assent in children and adolescents: an integrative review].","authors":"Paula Vega Vega, Claudia Miranda Castillo, Ivonne Vargas Celis","doi":"10.32641/andespediatr.v95i1.4968","DOIUrl":"https://doi.org/10.32641/andespediatr.v95i1.4968","url":null,"abstract":"The participation of children and adolescents in research requires bioethical measures to safeguard their autonomy and well-being through the application of the informed consent process.Objective: To critically analyze the factors involved in the process of assent/consent in children and adolescents in research.Methodology: Integrative review of scientific evidence carried out between April and June 2023, from manuscripts published between 2014 and 2023 in Web of Science, PubMed, CUIDEN, and CINAHL databases, using the descriptors Process Assessment OR Assent AND Informed Consent AND Bioethics AND Minors OR Child OR Children AND adolescent OR teenage AND Pediatrics AND Research. Twenty primary articles were found, and the results were subjected to content analysis.Result: Three categories were identified: shared consent/assent; child-specific factors for giving assent (age of the child to give assent and autonomy of the child to give assent), and key aspects of the assent process (assent form format; assent form content, and context for applying the assent process).Conclusions: The assent process is a key tool for legal and ethical compliance with the rights of children and adolescents in clinical trial participation. In addition to favoring participation in informed decision-making together with the parents, it is also an instance where the participant's competencies, capacity for understanding, and autonomy are valued.","PeriodicalId":72196,"journal":{"name":"Andes pediatrica : revista Chilena de pediatria","volume":"95 1","pages":"91-106"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140874070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0