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PFAPA Syndrome: A Case report and literature review PFAPA综合征1例报告及文献复习
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2019.v9n3-20
I. Yparraguirre, R. Aires, Angélica Rondon, Luís Guimarães, S. Rodríguez, Rodrigo Figueiredo
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引用次数: 0
Vacinas para COVID-19: perspectivas e desafios COVID-19疫苗:前景和挑战
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2020.v10n2-04
Eduardo Jorge da Fonseca Lima, Amalia Almeida, Renato A. Kfouri
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引用次数: 4
Use of an early warning scoring system in the pediatric ward of a tertiary referral hospital 预警评分系统在三级转诊医院儿科病房的应用
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n4-547
B. Mota, Adriana Fonseca, Anny Carolyne Santos
OBJECTIVE: To evaluate the performance the Brighton Pediatric Early Warning Score for an early identification of clinical deterioration in children admitted to the pediatric ward of a tertiary hospital. METHODS: A prospective cohort observational study, involving 325 children with acute illnesses admitted to a pediatric ward, aged 29 days to 13 years, between August 2018 and March 2020. To assess the Brighton Pediatric Early Warning Score diagnostic accuracy, it was used the Cardiff and Vale Pediatric Early Warning System as reference, and the software used was the R Core Team 2020. The effectiveness of the Brighton Pediatric Early Warning Score was assessed using the indicators of sensitivity, specificity, positive predictive value, negative predictive value, area under the ROC curve, number of true positives and negatives and false positives and negatives. RESULTS: The Brighton Pediatric Early Warning Score showed a sensitivity of 19.2%, a specificity of 99.1%, a positive predictive value of 90.5%, a negative predictive value of 73.7%, and an area under the ROC curve of 0.839. In addition to that, for scores larger than 3, there were 19 true positives, 224 true negatives, 2 false positives and 80 false negatives. CONCLUSION: The Brighton Pediatric Early Warning Score performed well in the scenario analysis chosen by this research, showing how easy it is to use it for an early recognition of clinical deterioration in children admitted to pediatric wards.
目的:评价布莱顿儿童早期预警评分对某三级医院儿科病房住院儿童临床恶化的早期识别效果。方法:一项前瞻性队列观察研究,纳入2018年8月至2020年3月期间入住儿科病房的325名急性疾病儿童,年龄在29天至13岁之间。为了评估布莱顿儿科预警评分的诊断准确性,使用了卡迪夫和瓦勒儿科预警系统作为参考,使用的软件是R Core Team 2020。采用敏感性、特异性、阳性预测值、阴性预测值、ROC曲线下面积、真阳性阴性数、假阳性阴性数等指标评价布莱顿儿童早期预警评分的有效性。结果:布莱顿儿童早期预警评分的敏感性为19.2%,特异性为99.1%,阳性预测值为90.5%,阴性预测值为73.7%,ROC曲线下面积为0.839。此外,当得分大于3时,真阳性19人,真阴性224人,假阳性2人,假阴性80人。结论:在本研究选择的场景分析中,布莱顿儿科预警评分表现良好,表明使用它来早期识别儿科病房住院儿童的临床恶化是多么容易。
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引用次数: 0
Brain-lung-thyroid syndrome: clinical response under methylphenidate hydrochloride therapy 脑-肺-甲状腺综合征:盐酸哌甲酯治疗下的临床反应
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2023.v13n1-483
Barbara Bianchi, C. Gil, L. Vagnini, J. Fonseca
INTRODUCTION: The “brain-lung-thyroid syndrome” is caused by mutations in the NKX2-1 gene, which encodes the thyroid transcription factor 1, and is characterized by widely diverse clinical manifestations: choreic movements, respiratory disorders and hypothyroidism. CASE REPORT: Male patient, 10 years old, son of non-consanguineous parents, being treated for subclinical hypothyroidism with levothyroxine, was referred at 4 years of age for investigation of hypotonia. There were no reports of breathing problems at birth. Investigation for hypotonia (central and neuromuscular) including muscle biopsy was normal. There was a progressive improvement in hypotonia, but the patient developed choreic movements. In view of the new clinical finding, a genetic-molecular study was carried out directed towards the NKX2-1 gene, confirming the diagnosis of “brain-lung-thyroid syndrome”. The patient started treatment with methylphenidate hydrochloride with evident improvement in choreic movements. DISCUSSION: Manifestations related to the NKX2-1 gene may include hereditary benign chorea (HBC), congenital hypothyroidism and neonatal respiratory disorders. Generally, chorea begins in early childhood, in the patient’s first year of life (most common), in later childhood or even adolescence, and progresses into the second decade after which it remains static or (rarely) resolves. Recently, the use of methylphenidate in patients with a mutation in this gene proved to be a possible therapeutic approach to control choreic movements and improve motor coordination in patients affected by this rare disease.
简介:“脑-肺-甲状腺综合征”是由编码甲状腺转录因子1的NKX2-1基因突变引起的,其临床表现多种多样:舞蹈症、呼吸系统疾病和甲状腺功能减退。病例报告:男性患者,10岁,非近亲父母的儿子,正在治疗亚临床甲状腺功能减退与左甲状腺素,在4岁时被转介调查低张力。没有出生时出现呼吸问题的报告。张力过低(中枢和神经肌肉)的检查包括肌肉活检均正常。肌张力过低有进行性改善,但患者出现舞蹈动作。鉴于这一新的临床发现,我们针对NKX2-1基因进行了遗传分子研究,确认了“脑-肺-甲状腺综合征”的诊断。患者开始使用盐酸哌甲酯治疗,舞蹈动作明显改善。讨论:与NKX2-1基因相关的表现可能包括遗传性良性舞蹈病(HBC)、先天性甲状腺功能减退症和新生儿呼吸系统疾病。一般来说,舞蹈病开始于儿童早期,在患者生命的第一年(最常见),在童年后期甚至青春期,并发展到第二个十年,之后保持静止或(很少)消退。最近,在该基因突变的患者中使用哌醋甲酯被证明是一种可能的治疗方法,可以控制这种罕见疾病患者的舞蹈运动和改善运动协调。
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引用次数: 0
Abscesso renal em pediatria - desafios para o diagnóstico e manejo: relato de caso 小儿肾脓肿-诊断和处理的挑战:病例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2023-656
A. Santos, Maria Andrade, Eduardo Hatanaka
Objective: To discuss the diagnostic difficulties of renal abscess in the pediatric age and warn pediatrics about the possible complications of urinary tract infections. Case description: A 16-year-old boy with autism spectre disorder and Duchenne muscular dystrophy presented at the emergency care unit with persistent fever despite the use of antibiotics to treat an urinary tract infection. Although there was leukocyturia, the urine culture was negative. Ultrassound of the urinary tract showed no significant findings. Computed tomography showed multiple renal abscesses in the right kidney. A puncture guided by ultrasound was performed. The culture of the liquid resulted in growth of ESBL Klebsiella pneumoniae. A 21 day course of intravenous antibiotic after the procedure resulted in complete resolution of signs and symptoms. Comments: Renal abscess is a rare condition in the pediatric population. However, it must be considered in the differential diagnosis of prolonged fever and when there is a nonfavorable evolution of urinary tract infection, mainly in recurrent episodes. The early diagnosis of this condition is essential for the adequate treatment and reduction of complications.
目的:探讨小儿肾脓肿的诊断难点,提醒儿科注意尿路感染可能引起的并发症。病例描述:一名患有自闭症谱系障碍和杜氏肌营养不良症的16岁男孩,尽管使用抗生素治疗尿路感染,但仍在急诊室出现持续发烧。虽然有白细胞尿,但尿培养为阴性。尿路超声检查未见明显异常。计算机断层扫描显示右肾多发肾脓肿。超声引导下穿刺。培养的液体导致ESBL肺炎克雷伯菌的生长。术后21天静脉注射抗生素导致症状和体征完全消失。评论:肾脓肿在儿童中是一种罕见的疾病。然而,在长时间发烧和当有不利的尿路感染发展时,主要是在反复发作时,必须考虑到鉴别诊断。这种疾病的早期诊断对于适当的治疗和减少并发症至关重要。
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引用次数: 0
Challenges in the implementation of Palliative Care in Neonatology: an integrative review 在新生儿实施姑息治疗的挑战:一项综合综述
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n4-771
Bárbara Rodrigues, A. Bóscolo, L. Leão, Marcelo Reis, Lucas Pimenta, J. Lima
INTRODUCTION: Neonatal palliative care has been increasingly integrated promoting individualized care, centered on maternal and family bonds. Even progress, there are several difficulties in the implementation of conducts. OBJECTIVE: To emphasize the importance and mains difficulties in implementing neonatal palliative care. METHODS: Bibliographic survey in PubMed and Lilacs databases. The descriptor used “neonatal palliative care”, “neonatology” and “difficulties”. Ten articles were selected at the end of review. CONCLUSION: Neonatal palliative care has made great advances; however, its implementation remains a challenge, not only on the part of the family, but also due to the lack of training and qualification of professionals in the field. This shows the importance of continuing education and creating protocols that meet the needs of patients.
新生儿姑息治疗已经越来越多地整合促进个性化护理,以母亲和家庭的纽带为中心。即使取得进展,在行为的实施中也存在一些困难。目的:强调实施新生儿姑息治疗的重要性和主要困难。方法:在PubMed和Lilacs数据库中进行文献调查。描述词使用了“新生儿姑息治疗”、“新生儿学”和“困难”。评审结束时选出10篇文章。结论:新生儿姑息治疗取得了很大进展;然而,它的执行仍然是一项挑战,这不仅是家庭方面的挑战,而且也是由于缺乏该领域专业人员的培训和资格。这显示了继续教育和创造满足患者需求的协议的重要性。
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引用次数: 0
Adequacy of tidal volume offered during invasive mechanical ventilation in preterm infants 早产儿有创机械通气时潮气量的充分性
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2023.v13n2-706
A. Melo, Lizandra Moura, Nailton Medeiros Junior, Joice Souza, Maria Julia Silva, A. Bezerra
OBJECTIVE: To verify the adequacy of the tidal volume (VT) of the preterm newborn (PTNB) under mechanical ventilation according to the parameter adjustments made by the team and to compare it with the ideal tidal volume for the weight. METHOD: This is a cross-sectional study with a sample composed of PTNB with gestational age (GA) <37 weeks hospitalized in the Neonatal Intensive Care Unit of Hospital Agamenon Magalhães. Six VT measurements were collected for 60 seconds and the adequacy of the VT found was assessed by calculating the ideal tidal volume (VTi) using the formula Vti = 4ml / kg x current weight. RESULT: The sample of 16 premature infants, 68.7% had inadequate TV at the time of collection. PTNBs with GA above 30 weeks obtained a statistically higher TV (TV = 12.27 ± 2.22mL). When corrected for weight, those with GA <30 had a corrected VT of 9.34 ± 4.63 mL / Kg, not statistically significant, but mportante from a clinical point of view. CONCLUSION: It was found that PTNB below 30 weeks were exposed to VT greater than the ideal range for weight. With this, it is possible to identify the importance of continuous monitoring of the VT, favoring a better ventilatory assistance, minimizing lung injuries.
目的:根据团队所做的参数调整,验证机械通气条件下早产儿潮气量(VT)的充分性,并与体重理想潮气量进行比较。方法:这是一项横断面研究,样本由agmenon magalh医院新生儿重症监护病房住院的胎龄<37周的PTNB组成。在60秒内收集了6次VT测量,并通过计算理想潮气量(VTi)来评估VT的充分性,公式为VTi = 4ml / kg x电流重量。结果:本组16例早产儿中,68.7%的早产儿在采集时电视内容不足。GA≥30周的PTNBs TV = 12.27±2.22mL,具有统计学意义。当校正体重时,GA <30的校正VT为9.34±4.63 mL / Kg,无统计学意义,但从临床角度来看很重要。结论:30周以下新生儿的VT暴露量大于理想体重范围。有了这个,就有可能确定连续监测室速的重要性,有利于更好的通气辅助,最大限度地减少肺损伤。
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引用次数: 0
Epstein-Barr virus associated with dermatopolymyositis: a case report Epstein-Barr病毒与皮肤多发性肌炎相关1例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n2-287
A. C. Fernandes, Francisco Brilhante Neto, Laura Aragão, Cítara Queiroz, M. Vieira, A. Moura
INTRODUCTION: The Epstein-Barr virus (EBV) is a DNA virus of the Herpesviridae family, which exists in the latent form in 95% of the world population. This virus infects the B lymphocytes, which promotes a persistent infection with periodic reactivations. EBV is probably a strong environmental factor in etiology of autoimmune diseases, once its viral proteins are involved in altering the host’s immune system, causing loss of self-tolerance and development of neoplasms. OBJECTIVE: To report a case of a patient with EBV associated with the development of dermatopolymyositis. CASE REPORT: Girl, 5 years, presenting erythematous-scaly lesions in extending region in upper and lower limbs. During follow-up, the patient’s mother returns referring worsening of the child, complaining of periodic fever, infection of upper airways and worsening of the lesions associated with difficulty of ambulation as well as difficulty of sitting in the past three weeks. Physical examination showed pharyngotonsillitis, cervical, axillary and inguinal adenomegalies and hepatomegaly. The limbs skin presented scaly and pruritic erythematous macules as well as on the metacarpophalangeal and interphalangeal joints, weakness of the pelvic muscles and arthralgia in the knees and ankles. After undergoing muscle biopsy, it presented a pattern for dermatopolymyositis, and imunosupression was initiated with methotrexate. Therefore, the patient improved clinically and laboratory regarding mononucleosis and the symptoms of dermatopolymyositis. The patient continues in specialized treatment and motor physiotherapy. CONCLUSION: Attention should be payed to the influence of viral component, such as the Epstein-Barr virus, on the pathogenesis of dermatopolymyositis in individuals genetically predisposed to autoimmune diseases.
Epstein-Barr病毒(EBV)是一种疱疹病毒科的DNA病毒,在世界95%的人口中以潜伏形式存在。这种病毒感染B淋巴细胞,从而促进周期性再激活的持续性感染。EBV可能是自身免疫性疾病病因学中的一个强大的环境因素,一旦其病毒蛋白参与改变宿主的免疫系统,导致自身耐受性丧失和肿瘤的发展。目的:报告一例EBV患者与皮肤多发性肌炎的发展相关。病例报告:女孩,5岁,表现为上肢和下肢延伸区红斑鳞状病变。在随访期间,患者的母亲返回,涉及儿童恶化,主诉周期性发烧,上呼吸道感染,在过去三周内,与行走困难和坐下困难相关的病变恶化。体格检查显示咽扁桃体炎、宫颈、腋窝及腹股沟腺肿大及肝肿大。四肢皮肤及掌指关节、指间关节呈鳞状、瘙痒性红斑,骨盆肌无力,膝、踝关节痛。在接受肌肉活检后,它呈现出皮肤多发性肌炎的模式,并开始使用甲氨蝶呤进行免疫抑制。因此,患者在临床和实验室方面对单核细胞增多症和皮肤多发性肌炎的症状有所改善。患者继续接受专科治疗和运动物理治疗。结论:在自身免疫性疾病易感人群中,应重视病毒成分(如爱泼斯坦-巴尔病毒)对皮肤多发性肌炎发病机制的影响。
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引用次数: 0
Stress reduction interventions for parents/family of children with chronic diseases: a scoping review 对患有慢性疾病儿童的父母/家庭的减压干预措施:范围审查
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n4-649
Sandra Amaral, F. Pimenta, Raquel Rosas, C. Sant’Anna
INTRODUCTION: In consideration of the changes and repercussions on the family dynamics, apart from childcare responsibilities, parents and caregivers of children with chronic disease face frequent stressors, resulting in rising levels of stress. This review thus aims to analyse studies that assessed the efficacy of psychosocial interventions directed at stress management among parents and family members of children with the most prevalent chronic diseases (cancer, asthma, diabetes and cardiovascular disease). METHOD: This study classifies as a scoping review. The literature search included articles published in five electronic databases (EBSCO, b-On, PubMed, Scielo and Web of Science), in line with the inclusion criteria. RESULTS: A total of 15 articles were selected. Interventions varied in relation to outcomes, study design, sample, modalities and strategies. Of the 15 studies, 53% found no significant differences in participants stress levels or between the intervention group and the control group, 40% showed a significant decrease in participants stress levels, and 7% presented mixed results with improvements in some emotional dimensions after the intervention. DISCUSSION: Despite the mixed results with regards to the levels of stress, the significant results might justify the importance of performing such interventions among this population. Interventions that are personalized and directed at this populations needs might be effective at reducing stress levels.
引言:考虑到对家庭动态的变化和影响,除了照顾儿童的责任外,慢性病儿童的父母和照顾者经常面临压力源,导致压力水平上升。因此,本综述旨在分析评估心理社会干预对患有最常见慢性病(癌症、哮喘、糖尿病和心血管疾病)儿童的父母和家庭成员压力管理效果的研究。方法:本研究归类为范围综述。文献检索包括5个电子数据库(EBSCO、b-On、PubMed、Scielo和Web of Science)发表的文章,符合纳入标准。结果:共入选文献15篇。干预措施在结果、研究设计、样本、方式和策略方面各不相同。在这15项研究中,53%的研究发现参与者的压力水平或干预组与对照组之间没有显著差异,40%的研究显示参与者的压力水平显著降低,7%的研究结果好坏参半,干预后某些情绪维度有所改善。讨论:尽管关于压力水平的结果好坏参半,但显著的结果可能证明在这一人群中进行此类干预的重要性。针对这一人群需求的个性化干预措施可能会有效降低压力水平。
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引用次数: 0
Marfan syndrome: importance of family history - case report 马凡氏综合征:家族史的重要性——病例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2023.v13n2-550
M. D. F. Leite, C. Muñíz, C. Farias, D. Orofino, Daltro Castellar Junior, A. Barth
We describe a case of Marfan syndrome, referred for evaluation due to an important family history of sudden death. In the first evaluation, he presented dilation of the aortic root in addition to other clinical manifestations of the disease. Our objective is to emphasize the importance of family history as a starting point in Marfan syndrome investigation, in an effort to prevent unfavorable outcomes like aortic dissection and sudden death.
我们描述一个马凡氏综合征的病例,由于一个重要的猝死家族史而进行评估。在第一次评估中,除了该疾病的其他临床表现外,他还出现了主动脉根部扩张。我们的目的是强调家族史作为马凡氏综合征调查起点的重要性,以努力预防主动脉夹层和猝死等不良后果。
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引用次数: 0
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Residência Pediátrica
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