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Teenager with Edwards’ syndrome: a rare case report 青少年爱德华兹综合征:一例罕见病例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2021.v11n3-223
Igor Trindade, Marise Pescador
Edwards’ syndrome is a severe genetic disease (chromosome 18 trisomy) that has a very restrict prognosis, resulting in premature death of the carrier. This study aims to report a case of survival of 12 years old girl diagnosed in the first months of life, her clinical evolution and the treatments performed by it. The multidisciplinary treatment performed by the adolescent since the first months of life shows the importance of this approach to improve the quality of life of patients with this syndrome.
爱德华兹综合征是一种严重的遗传疾病(18号染色体三体),预后非常有限,导致携带者过早死亡。本研究旨在报告一名12岁女孩在生命最初几个月诊断出的生存情况,她的临床进展和治疗方法。从生命的最初几个月起,青少年进行的多学科治疗显示了这种方法对改善患有这种综合征的患者的生活质量的重要性。
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引用次数: 0
Clinical and Genetic Findings from a Rare Pediatric Diseases Outpatient Clinic in Curitiba, Brazil 来自巴西库里提巴罕见儿科疾病门诊的临床和遗传发现
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n4-583
D. Souza, Franciele Verzeletti, Mara Santos, Josiane Souza
Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rare diseases. This study aims to describe the genetic/clinical profile of patients seen at the Rare Diseases Outpatient Clinic of a referral pediatric hospital in southern Brazil. Methodology: This retrospective descriptive quantitative study looked into data from paper and electronic medical charts of patients seen at the Rare Diseases Outpatient Clinic and genetic test results of included patients stored in the platform of the hospital’s Clinical Analysis Laboratory. Results and Discussion: The study included 553 patient medical charts. Prevalence of male patients and aged between zero and 11 years was greater. The most commonly reported symptoms were dysmorphisms and congenital malformations (12.5%), developmental delay (11.0%) and seizures (10.5%). Only 24.7% of the molecular genetic tests presented altered results. Alterations were more notably seen in genes PHKA2, G6PC, FBP1, and CTNS. The number of altered test results was lower than expected. The greater availability and popularization of these tests can be noticed by the increase in the number of tests ordered. Increased awareness about molecular genetic testing is very positive and may help healthcare teams improve patient quality of life.
简介:罕见病是一种慢性、进行性疾病,在人群中发病率低。它们可以分为两类:遗传来源的疾病和非遗传来源的疾病。目前,分子基因检测被广泛用于罕见病的筛查和诊断。本研究旨在描述在巴西南部一家转诊儿科医院罕见病门诊就诊的患者的遗传/临床概况。方法:本回顾性描述性定量研究调查了罕见病门诊病人的纸质和电子病历数据,以及医院临床分析实验室平台中存储的纳入患者的基因检测结果。结果与讨论:本研究纳入553例患者病历。男性患者和年龄在0 - 11岁之间的患病率更高。最常见的报告症状是畸形和先天性畸形(12.5%),发育迟缓(11.0%)和癫痫发作(10.5%)。只有24.7%的分子基因检测结果出现了改变。基因PHKA2、G6PC、FBP1和CTNS的改变更为明显。更改测试结果的数量低于预期。从订购的检测数量的增加可以看出,这些检测的可得性和普及程度有所提高。提高对分子基因检测的认识是非常积极的,可以帮助医疗团队提高患者的生活质量。
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引用次数: 0
Epidemiological profile of pediatric burn victims in the city of São Paulo <s:1>圣保罗市儿童烧伤患者的流行病学概况
Pub Date : 1900-01-01 DOI: 10.25060/RESIDPEDIATR-2020.V10N2-85
C. Rodrigues, Vitória Westarp, Adriana Natucci Hette, Tatiana Condo, Lorena Depieri, Carlos Gorios, R. Pereira, J. Armond
INTRODUCTION: Burns injuries are a significant health problem because they cause permanent or long lasting sequelae. OBJECTIVE: To characterize burn injuries, occurring among children and adolescents living in the city of Sao Paulo, and to identify the profile of pediatric patients treated for burn injuries. METHODS: This is a cross-sectional, quantitative, descriptive and retrospective study. A survey was carried out using data from the Information System for Violence and Accident Surveillance (SIVVA) of the Municipal Health Department of the city of Sao Paulo, where the reports of accidents against children and adolescents (0 to 19-years-old). RESULTS: During the study period, there were 416 burn injuries among children and adolescents living in the city of Sao Paulo. The main lesion diagnoses were: degree II burn (41.6%), the body region being more affected by wrist and hand. CONCLUSION: The results of this study showed that there was a higher frequency of burns among boys, preschoolers and the domestic environment. It emphasizes the importance of epidemiological researches in the subject because they can support preventive strategies, especially in the period of childhood and adolescence.
导读:烧伤是一个重要的健康问题,因为它们会导致永久性或长期持续的后遗症。目的:研究发生在圣保罗市儿童和青少年中的烧伤特征,并确定因烧伤而接受治疗的儿科患者的概况。方法:采用横断面、定量、描述性和回顾性研究。利用圣保罗市卫生局暴力和事故监测信息系统(SIVVA)的数据进行了一项调查,该系统收集了针对儿童和青少年(0至19岁)的事故报告。结果:在研究期间,生活在圣保罗市的儿童和青少年中有416例烧伤。主要病变诊断为:II度烧伤(41.6%),身体部位以腕、手为主。结论:本研究结果显示男孩、学龄前儿童和家庭环境中烧伤发生率较高。它强调在这个问题上进行流行病学研究的重要性,因为它们可以支持预防战略,特别是在儿童和青少年时期。
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引用次数: 0
Pediatric type 1 diabetes mellitus and COVID-19 infection: is there an association? 儿童1型糖尿病与COVID-19感染:是否存在关联?
Pub Date : 1900-01-01 DOI: 10.25060/RESIDPEDIATR-2021.V11N1-504
residpediatr .v n . residpediatr .v n
A recent study from the UK, has described an apparent increase in new type 1 diabetes (T1DM) onset in children during COVID-19 pandemic. Both Brazil and USA (including our area of Houston, TX) have recently suffered from a sudden surge of this infection and we have noticed an association between the infection and 2 new cases of pediatric diabetes presenting in diabetes ketoacidosis. This association may become important in the future if the epidemiological data of T1DM shows an increased trend post the COVID-19 infection. It is also important to note that one patient was asymptomatic, this may be important to consider early screening and diagnosis to prevent the spread of infection.
英国最近的一项研究表明,在COVID-19大流行期间,儿童中新型1型糖尿病(T1DM)的发病率明显增加。巴西和美国(包括我们的休斯顿地区,德克萨斯州)最近都遭受了这种感染的突然激增,我们已经注意到感染与2例以糖尿病酮症酸中毒为表现的儿科糖尿病新病例之间的联系。如果T1DM的流行病学数据在COVID-19感染后显示出增加的趋势,这种关联在未来可能变得重要。同样重要的是要注意,一名患者无症状,这可能是重要的考虑早期筛查和诊断,以防止感染的传播。
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引用次数: 0
Acute benign myositis of childhood: Results of a prospective study performed in a pediatric emergency department 儿童急性良性肌炎:在儿科急诊科进行的一项前瞻性研究的结果
Pub Date : 1900-01-01 DOI: 10.25060/RESIDPEDIATR-2020.V10N2-90
V. Rosa, G. Kuzma, L. Hornung, M. Bandeira
OBJECTIVE: Benign acute childhood myositis is characterized by acute musculoskeletal involvement leading to transient limitations on deambulation followed by a viral illness. Our study objective to evaluate clinical and laboratory features of patients in a pediatric emergency department. METHODOS: We conducted a prospective study in patients with symptoms and laboratory findings compatible with viral myositis in the period of August 2017 to August 2018. RESULTS: We assessed 20 patients in the period of twelve months. The mean age was 8,25 years. Of these, 83,3% had infectious symptoms in the week before the musculoskeletal involvement. By the time of the diagnosis, the symptoms were: calf pain, reluctance to walk, gait abnormality, diffuse myalgia and calf weakness. The most relevant laboratory finding was the elevation of CPK (mean 3359,556U/L) level, followed by AST (mean 131U/L) and ALT (mean 64,66U/L) elevation. The mean time for symptom relief was 3 days and in 7 days all exams were normal. CONCLUSION: Though the exact incidence of this condition remains undetermined, the lower extremity pain and the gait abnormality is of concern of both parents and health care providers. We emphasize the importance of knowing this condition to avoid unnecessary exams and the delay in the diagnosis of severe conditions.
目的:儿童良性急性肌炎的特征是急性肌肉骨骼受累,导致短暂的下床限制,随后是病毒性疾病。我们的研究目的是评估儿科急诊科患者的临床和实验室特征。方法:我们在2017年8月至2018年8月期间对具有符合病毒性肌炎症状和实验室结果的患者进行了一项前瞻性研究。结果:我们对20例患者进行了为期12个月的评估。平均年龄为8.25岁。其中,83.3%的人在肌肉骨骼受累前一周有感染症状。诊断时的症状为:小腿疼痛,不愿行走,步态异常,弥漫性肌痛和小腿无力。最相关的实验室结果是CPK升高(平均3359、556U/L),其次是AST升高(平均131U/L)和ALT升高(平均64,66u /L)。平均症状缓解时间为3天,7天内各项检查均正常。结论:虽然这种情况的确切发生率尚不确定,但下肢疼痛和步态异常是父母和卫生保健提供者关注的问题。我们强调了解这种情况的重要性,以避免不必要的检查和延误严重情况的诊断。
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引用次数: 0
Prevalência de aleitamento materno exclusivo após internação em unidade de cuidados neonatais 新生儿护理病房住院后纯母乳喂养的患病率
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n3-463
P. Ruiz, N. Santiago, Mariana Aquino, S. Batista
OBJECTIVES: Define the prevalence of exclusive breastfeeding among patients that received discharge in breastfeeding, exclusive or complementing with formula, 15 days after discharge from the neonatal unit and the related factors. METHODS: Observational, descriptive, prospective study, including newborns hospitalized in the Neonatal Unit who were discharged in breastfeeding, exclusive or mixed with formula, during the period from May to July, 2019. Fifteen days after hospital discharge, it was made a phone contact to the mother asking about the type of feeding in that moment. RESULTS: The prevalence of exclusive breastfeeding 15 days after hospital discharge was 62.3%. Birthweight and gestational age were significantly higher and the length of stay was smaller in the group being exclusively breastfed 15 days after discharge (p<0.05). There was a positive correlation between exclusive breastfeeding by hospital discharge and exclusive breastfeeding 15 days after discharge (p<0.05). CONCLUSION: Initiating and maintaining breastfeeding for newborns who need hospitalization for healthcare is a challenge and requires all the efforts in terms of structure and process. Factors such as birthweight, gestational age and length of hospital stay have influence on the prevalence of breastfeeding after discharge. Exclusive breastfeeding by the hospital discharge has favored breastfeeding 15 days after discharge.
目的:确定从新生儿病房出院后15天接受纯母乳喂养(纯母乳喂养或补充配方奶喂养)的患者中纯母乳喂养的患病率及其相关因素。方法:观察性、描述性、前瞻性研究,纳入2019年5月至7月期间在新生儿病房住院的纯母乳喂养或混合配方奶粉出院的新生儿。出院后15天,我们打电话给孩子的母亲,询问当时的喂养方式。结果:出院后15天纯母乳喂养率为62.3%。出院后15 d纯母乳喂养组新生儿出生体重、胎龄显著高于对照组,住院时间显著低于对照组(p<0.05)。出院时纯母乳喂养与出院后15 d纯母乳喂养呈正相关(p<0.05)。结论:对需要住院保健的新生儿开展和维持母乳喂养是一项挑战,需要在结构和流程方面做出各种努力。出生体重、胎龄和住院时间等因素对出院后母乳喂养的流行率有影响。出院后完全母乳喂养有利于出院后15天的母乳喂养。
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引用次数: 0
Osteoporosis and laryngeal involvement secondary to juvenile idiopathic arthritis: case report 青少年特发性关节炎继发于骨质疏松和喉部受累:1例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n2-317
R. Oliveira, A. Nau, Rafaela Assmann, M. Bandeira
OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a systemic inflammatory condition and the most common chronic rheumatological disease in childhood. Among complications, patients may have osteoporosis induced by treatment with glucocorticoids or the evolution of the disease. Another rare complication is the involvement of laryngeal cartilage, which may present with stridor or respiratory failure. The purpose of this report is to present a case of JIA with osteoporosis and laryngeal manifestations. CASE REPORT: Female, 15 years old, diagnosed with JIA 12 years ago with irregular treatment that evolved with severe and limiting disease. The patient had stridor and dyspnoea. Laryngoscopy showed involvement of arytenoid cartilage requiring tracheostomy. In addition, the patient was diagnosed with osteoporosis and bilateral coxarthrosis, requiring bilateral total hip arthroplasty.
目的:幼年特发性关节炎(JIA)是一种全身性炎症,是儿童期最常见的慢性风湿病。在并发症中,患者可能因糖皮质激素治疗或疾病演变而导致骨质疏松。另一罕见的并发症是累及喉软骨,可表现为喘鸣或呼吸衰竭。本文报告一例伴有骨质疏松和喉部表现的JIA。病例报告:女性,15岁,12年前诊断为JIA,治疗不规范,发展为严重和限制性疾病。病人有喘鸣和呼吸困难。喉镜检查显示受累的杓状软骨需要气管切开术。此外,患者被诊断为骨质疏松症和双侧关节错位,需要双侧全髋关节置换术。
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引用次数: 0
The impacts of the COVID-19 pandemic on child and adolescent health: A literature review COVID-19大流行对儿童和青少年健康的影响:文献综述
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2022.v12n4-795
Rachel Silveira, Ana Carla Rocha, Arthur O. Vale, D. Sena, R. Chaves
OBJECTIVES: To describe the main impacts of physical inactivity, increased screen time, and violence against children on the psychological and cognitive development supported by changes in habits during the COVID-19 pandemic. METHODS: A narrative review of the literature with publications from 2012 to 2021 was conducted based on data from the U.S. National Library of Medicine (PubMed) and from the Scientific Electronic Library Online (SciELO). The following keywords were used: “Child Behavior”; “Screen time”; “Covid-19”; “Sedentary behavior” e “Domestic Violence”. RESULTS: An intensification of the use of electronic devices, increased rates of child abuse and children’s physical inactivity during the COVID-19 pandemic was observed. CONCLUSION: Social isolation due to the COVID-19 pandemic resulted in the aggravation of pre-existing problems in children, such as increased screen time, physical inactivity and violence against children.
目的:描述COVID-19大流行期间,缺乏身体活动、屏幕时间增加和针对儿童的暴力行为对习惯改变所支持的心理和认知发展的主要影响。方法:基于美国国家医学图书馆(PubMed)和科学电子图书馆在线(SciELO)的数据,对2012年至2021年发表的文献进行叙述性回顾。使用了以下关键词:“儿童行为”;“屏幕时间”;“Covid-19”;“久坐行为”和“家庭暴力”。结果:在2019冠状病毒病大流行期间,电子设备的使用加剧,儿童虐待率上升,儿童缺乏身体活动。结论:新冠肺炎大流行导致的社会隔离导致儿童本已存在的问题加剧,如屏幕时间增加、缺乏身体活动和针对儿童的暴力行为。
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引用次数: 0
Asthma and COVID-19 哮喘和COVID-19
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2020.v10n2-355
A. Venerabile
OBJECTIVES: Highlight the asthma situation in this pandemic. Describe the safety aspects of patients and health professionals. Discuss its severity, control, risk factors, therapeutic management of chronic disease and its exacerbations. METHODS: Data were collected from the scientific literature on the topic asthma in the context of the COVID-19 pandemic. A search was performed in PubMed databases, using the descriptors: asthma, coronavirus infections, pandemics, risk factors, drug therapy and spirometry. RESULTS: Asthma has not been identified as a significant risk factor for severe COVID-19 disease, perhaps due to the lower expression of angiotensin-converting enzyme receptors in atopic asthma. Groups were identified, among severe asthmatics, with greater expression of these receptors. CONCLUSIONS: Nebulizers should be avoided, spacers should not be shared and spirometry or peak expiratory flow measurement is not recommended. All asthmatics should be maintained on inhaled corticosteroids. Short-acting beta2-agonist only treatment is not recommended from the age of 12. As-needed low dose inhaled corticosteroid with formoterol is the prefered reliever for this age group and can be offered together on the same device. From 6 to 11-years-old, reliever medication should preferably be short-acting beta2-agonists, associated with low dose inhaled corticosteroids and applied in separate devices. In severe asthma, tiotropium should precede the indication of the immunobiological and this, when in use, should not be interrupted.
目的:强调本次大流行中的哮喘情况。描述患者和卫生专业人员的安全方面。讨论其严重程度,控制,危险因素,慢性疾病及其恶化的治疗管理。方法:收集COVID-19大流行背景下有关哮喘主题的科学文献数据。在PubMed数据库中进行了搜索,使用描述符:哮喘、冠状病毒感染、流行病、危险因素、药物治疗和肺活量测定。结果:哮喘尚未被确定为严重COVID-19疾病的重要危险因素,可能是由于特应性哮喘中血管紧张素转换酶受体的表达较低。研究发现,在严重哮喘患者中,这些受体的表达量更高。结论:应避免使用雾化器,不应共用间隔器,不建议使用肺活量测定或呼气峰流量测定。所有哮喘患者都应继续使用吸入性皮质类固醇。从12岁起不建议仅使用短效β - 2激动剂治疗。根据需要,低剂量吸入皮质类固醇与福莫特罗是该年龄组的首选缓解剂,可以在同一设备上一起提供。从6岁到11岁,缓解药物最好是短效β -受体激动剂,与低剂量吸入皮质类固醇相关,并在单独的设备中使用。在严重哮喘中,噻托溴铵应先于免疫生物学适应症,并且在使用时不应中断。
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引用次数: 0
ASSOCIATION BETWEEN VESICURETERAL REFLUX AND CHROMOSOME 22 RING ANOMALY - CASE REPORT 膀胱输尿管反流与22号染色体环异常的关系1例报告
Pub Date : 1900-01-01 DOI: 10.25060/residpediatr-2023-745
C. Batista, B. Santos, G. Santos, Giulia Ciuccio, Vicente Gerardi Filho
Vesicoureteral reflux (VUR) is characterized by retrograde urine flow, caused by impaired occlusion of the intramural portion of the ureter by contraction of the detrusor muscle during urination or secondary to altered bladder dynamics, ureteral obstruction and neuromuscular diseases, such as Phelans syndrome - McDermid. This syndrome is a rare and underreported disease, resulting from the formation of chromosome 22 in a ring and has VUR as its main urological manifestation. The objective of this study is to alert the medical community about one of the differential diagnoses in the VUR etiology, based on the case of a female patient, 4 years and 2 months old, referred to the Pediatric Surgery service of the Mário Covas State Hospital with recurrent infection of urinary tract associated with impaired renal function and bilateral VUR evidenced on cystourethrography. During investigation, the phenotypic findings encouraged the performance of a karyotype that confirmed the alterations found in PhelanMcDermid syndrome. VUR early diagnosis was essential to establish the appropriate therapy, which involved clinical and surgical approaches aimed at improving quality of life, preserving the renal parenchyma and preventing further future complications.
膀胱输尿管反流(VUR)以逆行尿流为特征,由尿时逼尿肌收缩导致输尿管外壁部分闭塞受损引起,或继发于膀胱动力学改变、输尿管梗阻和神经肌肉疾病,如Phelans综合征。该综合征是一种罕见且未被报道的疾病,由22号染色体形成环状引起,以VUR为主要泌尿系统表现。本研究的目的是提醒医学界注意VUR病因的一个鉴别诊断,基于一个4岁零2个月的女性患者,转到Mário Covas州立医院的儿科外科部门,泌尿道复发感染伴肾功能受损,膀胱尿道造影证实双侧VUR。在调查过程中,表型发现鼓励了核型的表现,证实了在费伦麦克德米综合征中发现的改变。VUR的早期诊断对于确定适当的治疗方法至关重要,包括临床和手术方法,旨在提高生活质量,保留肾实质并防止进一步的并发症。
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引用次数: 0
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Residência Pediátrica
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