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Castleman disease. A rare diagnosis in childhood Castleman病。在儿童时期罕见的诊断
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18640
S. Cunha, S. Vasconcelos, Cláudia Neto, Tereza Oliva, M. Salgado
Introduction: Castleman Disease (CD) is a rare polyclonal lymphoproliferative disorder characterized by massive growth of lymphoid tissue. The most common sites of disease are the chest, abdomen, neck, and axilla. Excisional biopsy is mandatory for diagnosis, and complete surgical resection the gold-standard treatment in unicentric CD. Case report: A ten-year-old girl was observed at the Emergency Department with sore throat and fever. Oropharynx examination revealed inflamed tonsils, with no exudates. Enlarged lymphadenopathy was palpable in the right supraclavicular fossa. Ultrasound revealed right supraclavicular lymphadenopathy with loss of adipose hilum and histopathologic assessment established CD diagnosis. Discussion/Conclusion: Lymphadenopathy is a common presentation in children, usually benign and self-limited. But it may also be a sign of underlying malignancy. Any lymphadenopathy in the supraclavicular fossa is worrisome and requires prompt investigation. CD diagnosis may be challenging, due its rare nature in childhood and nonspecific symptoms.
简介:Castleman病(CD)是一种罕见的多克隆性淋巴组织增生性疾病,其特征是淋巴组织的大量生长。最常见的发病部位是胸部、腹部、颈部和腋窝。切除活检是诊断的必要条件,完全手术切除是单中心性CD的金标准治疗方法。病例报告:一名10岁女孩在急诊科观察到喉咙痛和发烧。口咽检查显示扁桃体发炎,无渗出物。右侧锁骨上窝淋巴结肿大。超声显示右侧锁骨上淋巴结病变伴脂肪门部缺失,组织病理学检查确定CD诊断。讨论/结论:淋巴结病在儿童中是一种常见的表现,通常是良性和自限性的。但这也可能是潜在恶性肿瘤的征兆。锁骨上窝的任何淋巴结病变都令人担忧,需要及时检查。乳糜泻的诊断可能具有挑战性,因为其在儿童时期的罕见性和非特异性症状。
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引用次数: 0
Suspecting classical homocystinuria in an adolescent born before the newborn screening program 在新生儿筛查计划前出生的青少年疑似经典同型半胱氨酸尿
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18753
F. Carvalho, T. Campos, Joana Reis, Mariana Portela, C. Vasconcelos, Carla Ferreira, Arnaldo Cerqueira, Â. Oliveira, L. Vilarinho, E. Leão‐Teles, E. Rodrigues
Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study.Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism.Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.
经典同型半胱氨酸尿(HCU)是一种常染色体隐性遗传病,由胱氨酸-合成酶缺乏引起,并与血管并发症的高概率相关。本文提出的情况下,青少年诊断为HCU在脑静脉窦血栓形成(CVST)的研究。病例报告:一名14岁女孩在CVST研究期间出现血栓性疾病筛查试验提示HCU。转介到遗传代谢疾病科后,她开始补充吡哆醇、叶酸、维生素B12、无水甜菜碱和半胱氨酸,并被建议限制饮食中的天然蛋白质和蛋氨酸。遗传分析显示CBS纯合子突变(c.572C>T (p.T191M))具有c.699C>T (p.Y233Y)多态性。讨论:在2004年(葡萄牙新生儿筛查计划实施的年份)之前出生的青少年中,在研究高凝综合征时应考虑HCU,因为它是一种可治疗的疾病,治疗可以预防主要的发病率和死亡率。
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引用次数: 0
Pica and attention deficit hyperactivity disorder: is there a link? Comorbidity and treatment outcomes with methylphenidate 异食癖和注意缺陷多动障碍:有联系吗?哌甲酯的合并症和治疗结果
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18910
D. Cardoso, L. Duarte, Vanessa Fonseca Pinto, T. Cartaxo
Introduction: Pica is the persistent ingestion of non-nutritive substances. It is common during childhood and may be related to nutritional deficits, intellectual disability, stress, and psychosis. However, no causative biological condition is identified in most cases and there is limited evidence to support pharmacological intervention. As several authors describe pica as an impulse control disorder and impulsive symptoms are a core aspect of the diagnostic criteria of attention deficit hyperactivity disorder (ADHD), this study reviews literature data on pica, ADHD, and treatment response during childhood and adolescence and adds two case reports to this body of evidence.Methods: Systematic literature review using the key terms “pica”, “attention deficit”, “hyperactivity”, “child”, and “adolescent”. A retrospective analysis of clinical data of two patients with pica and ADHD followed at the Child and Adolescent Psychiatry Department of Hospital Pediatrico was also conducted.Results: As far as the authors are aware, only three cases are currently reported in the literature describing comorbid pica and ADHD in children. Of these, two reported complete pica symptom remission after methylphenidate treatment. Two other cases of children with pica and ADHD observed at the Child and Adolescent Psychiatry Department of our institution were reported in this study, one of which had complete symptom remission after psychostimulant treatment optimization.Discussion: The suggested association between pica and ADHD may have underlying etiology in poor impulse control and dopaminergic system dysfunctions. Therefore, a pharmacological approach capable of improving dopaminergic functioning may be an alternative treatment for pica. Psychostimulants may improve pica by eliciting an increase in brain dopamine levels and a decrease in impulsivity.
异食癖是指持续摄入非营养性物质。它在儿童时期很常见,可能与营养缺乏、智力残疾、压力和精神病有关。然而,在大多数情况下,没有确定致病的生物学条件,支持药物干预的证据有限。由于一些作者将异食癖描述为一种冲动控制障碍,而冲动症状是注意缺陷多动障碍(ADHD)诊断标准的核心方面,本研究回顾了儿童和青少年时期异食癖、多动症和治疗反应的文献数据,并增加了两个病例报告作为证据。方法:以“异食癖”、“注意缺陷”、“多动”、“儿童”、“青少年”为关键词进行系统文献综述。回顾性分析了两例异食癖和多动症患者在医院儿科儿童和青少年精神科的临床资料。结果:据作者所知,目前文献中仅报道了3例儿童异食癖和ADHD共病。其中,两例异食癖症状在哌甲酯治疗后完全缓解。本研究报告了另外两例在我院儿童和青少年精神科观察到的异食癖和多动症儿童,其中一例在精神兴奋剂治疗优化后症状完全缓解。讨论:异食癖和注意力缺陷多动障碍之间的关联可能与冲动控制不良和多巴胺能系统功能障碍有关。因此,能够改善多巴胺功能的药理学方法可能是异食癖的另一种治疗方法。精神兴奋剂可能通过引起大脑多巴胺水平的增加和冲动的减少来改善异食癖。
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引用次数: 1
Gastroenterological clinical case 胃肠病学临床病例
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18730
Mariana Portela, C. Barroso, J. L. Carvalho, M.J.M. Gomes
Gastrointestinal polyps are frequent in children and represent the most common cause of colorectal bleeding in this age group. Among those, juvenile polyps are the most frequently found. Intermittent mild hematochezia is the main symptom of colon polyps. Most polyps are pedunculated and, when located in the rectum, may prolapse. In most cases, juvenile polyps are solitary and located in rectosigmoid. Although malignancy risk of a solitary juvenile polyp is very small, excision is recommended to confirm benign nature. Total colonoscopy should be considered to exclude multiple or proximal polyps.
胃肠道息肉在儿童中很常见,是该年龄组结直肠出血的最常见原因。其中,最常发现的是幼年珊瑚虫。间歇性轻度便血是结肠息肉的主要症状。大多数息肉是带梗的,当位于直肠时,可能脱垂。在大多数情况下,幼年息肉是孤立的,位于直肠乙状结肠。虽然孤立幼年息肉的恶性风险很小,但建议切除以确认其良性。全结肠镜检查应考虑排除多发或近端息肉。
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引用次数: 0
Preconceptional immunity and congenital cytomegalovirus infection – a serologic pitfall 孕前免疫和先天性巨细胞病毒感染——血清学陷阱
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18699
Joana Ferreira, J. Fonseca, M. Vieira
Congenital cytomegalovirus infections are the most prevalent intrauterine infections worldwide and result from maternal primary or non-primary infections. Diagnosis of primary cytomegalovirus infection during pregnancy is considered reliable and mainly relies on maternal serology. However, diagnosis of non-primary cytomegalovirus infection is more questionable. Herein is reported the case of a 34-week-old male newborn with congenital cytomegalovirus infection of a mother with preconceptional immunity. The organism was identified in urine by polymerase chain reaction in the first week of life. Maternal peripartum serology was the same as prior to conception. This case highlights the pitfalls of cytomegalovirus serology interpretation in non-primary infection during pregnancy. Clinicians should be aware of this and consider congenital cytomegalovirus infection, particularly when suggestive signs are present.
先天性巨细胞病毒感染是世界范围内最常见的宫内感染,由母体原发性或非原发性感染引起。妊娠期原发性巨细胞病毒感染的诊断被认为是可靠的,主要依赖于母体血清学。然而,非原发性巨细胞病毒感染的诊断更值得怀疑。本文报告一例34周大的男婴与先天性巨细胞病毒感染的母亲与孕前免疫。在出生后的第一周,通过聚合酶链反应在尿液中鉴定出该微生物。产妇围产期血清学与孕前相同。本病例强调巨细胞病毒血清学解释妊娠期非原发感染的缺陷。临床医生应该意识到这一点,并考虑先天性巨细胞病毒感染,特别是当有提示迹象时。
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引用次数: 0
Shared decisions in neonatal intensive care − bioethical approach 新生儿重症监护中的共同决策——生物伦理方法
Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.20315
Carmen Carvalho, A. Freitas, L. Pinho, A. Novo
Technological and therapeutic advances in neonatal intensive care have led to a decrease in neonatal morbidity and mortality in recent decades. Along with technical and scientific expertise, it is important to provide a holistic and comprehensive approach to the care of the newborn and family. The purpose of this review is to describe and analyze strategies to improve decision-making within a shared process between health professionals and caregivers at neonatal intensive care setting.The decision-making process is not linear or immutable over time and there is no consensus on the definition of ‘shared decision’. More unanimous is the role of communication as a atherapeutic relationship pillar. Professional ethics, bioethics, and narrative medicine should be used as tools to address the vulnerabilities of families and professionals and as a way to consolidate and structure the human relational dimension intrinsic to medical practice.
近几十年来,新生儿重症监护的技术和治疗进步导致新生儿发病率和死亡率下降。除了技术和科学专业知识外,重要的是提供一个全面和综合的方法来照顾新生儿和家庭。本综述的目的是描述和分析在新生儿重症监护环境中卫生专业人员和护理人员共享过程中改善决策的策略。随着时间的推移,决策过程不是线性的,也不是不变的,对“共同决策”的定义也没有共识。更一致的观点是沟通作为治疗关系支柱的作用。职业伦理、生命伦理和叙事医学应被用作解决家庭和专业人员脆弱性的工具,并作为巩固和构建医疗实践固有的人际关系维度的一种方式。
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引用次数: 1
Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male) 儿科年龄段外生殖器体检结果——不同并不总是病理性的——第一部分(男性)
Pub Date : 2021-04-01 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18708
Diana Costa, N. Pinto, A. S. Marinho, J. Pinto
Introduction: Findings in the physical examination of the external genitalia in children are often a source of concern for parents and caregivers, not only for the emotional significance that people unconsciously attribute to these structures (partly due to their reproductive function), but also for the physical and psychological impact in the child.Due to the child’s close monitoring and periodic surveillance, the family physician has a key role in the identification and initial guidance of these cases.Objectives: To review the evidence about main variations and anomalies of the external male genitalia in pediatric age regarding diagnosis and clinical approach in primary health care.Results: In most cases, anomalies in the external male genitalia represent variants of normal and/or do not significantly affect function, thus only requiring clinical surveillance and no intervention. However, some cases − as epispadias, hypospadias, and urethral duplication − require surgical intervention and early action is crucial for the success of implemented measures.Conclusion: Physical examination is a key aspect of child assessment. Although changes in physical examination of the external male genitalia mostly represent normality variants, clinicians should be able to recognize pathological changes and properly refer those cases without overloading health services or causing unnecessary anxiety to children and caregivers.
引言:儿童外生殖器的体检结果往往是父母和照顾者关注的问题,不仅是人们无意识地将这些结构归因于情感意义(部分是由于他们的生殖功能),还包括对儿童的身体和心理影响。由于儿童的密切监测和定期监测,家庭医生在识别和初步指导这些病例方面发挥着关键作用。目的:回顾有关儿科年龄男性外生殖器主要变异和异常的证据,以及初级卫生保健的诊断和临床方法。结果:在大多数情况下,男性外生殖器的异常代表正常的变体和/或不会显著影响功能,因此只需要临床监测,不需要干预。然而,有些病例——如尿道下裂、尿道下裂和尿道重复——需要手术干预,早期行动对实施措施的成功至关重要。结论:体格检查是儿童评估的一个重要方面。尽管男性外生殖器体检的变化大多代表正常变异,但临床医生应该能够识别病理变化并正确转诊这些病例,而不会使卫生服务过载或给儿童和护理人员带来不必要的焦虑。
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引用次数: 0
Pediatric genetic testing in the genomics era 基因组时代的儿科基因检测
Pub Date : 2020-12-23 DOI: 10.25753/BIRTHGROWTHMJ.V29.I4.21912
C. Falcão-Reis
The revolutionary advances in genetic testing technologies of the past decade have allowed detailed analysis of a patient ́s whole genome with increased precision, speed and cost-effectiveness, substantially improving diagnostic rates. High-throughput genome-scale tests commonly used in pediatric care include chromosome microarray analysis (CMA) and whole exome sequencing (WES). CMA assesses genome-wide copy number variations (CNVs) and has been well established in clinical practice as the first-tier test in children with developmental delay/ intellectual disability, autism spectrum disorder or multiple congenital anomalies, with diagnostic yields ranging from 12 to 28%.1 WES is more recent and takes advantage of next-generation-sequencing (NGS) technology to analyze the protein coding regions of known genes (approximately 20.000) for sequence variants and can additionally screen for CNVs. WES is particularly useful in the etiological investigation of unspecific genetic conditions with multiple differential diagnoses and in disorders with genetic heterogeneity such as epilepsy, developmental delay/intellectual disability, sensorineural hearing loss or retinitis pigmentosa. The diagnostic yields of WES range from 15% to 50% and can be enhanced with trio analyses (proband and both parents).2
在过去的十年中,基因检测技术的革命性进步使得对患者全基因组的详细分析具有更高的精度、速度和成本效益,大大提高了诊断率。高通量基因组规模测试通常用于儿科护理,包括染色体微阵列分析(CMA)和全外显子组测序(WES)。CMA评估全基因组拷贝数变异(CNVs),并已在临床实践中作为发育迟缓/智力残疾、自闭症谱系障碍或多种先天性异常儿童的一级测试,诊断率为12%至28% 1WES是较新的技术,利用下一代测序(NGS)技术分析已知基因(约20,000个)的蛋白质编码区,以寻找序列变异,并可以额外筛选CNVs。WES在具有多种鉴别诊断的非特异性遗传疾病的病因学调查和遗传异质性疾病(如癫痫、发育迟缓/智力残疾、感音神经性听力损失或视网膜色素性视网膜炎)中特别有用。WES的诊断率在15%到50%之间,可以通过三人分析(先证者和父母双方)来提高
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引用次数: 0
Unintentional injuries and associated factors among adolescents 青少年中的意外伤害及其相关因素
Pub Date : 2020-12-09 DOI: 10.25753/BIRTHGROWTHMJ.V29.I4.18455
D. Bordalo, Paula Fonseca, Tânia Lopes, Sara Rolim, Joana Figueirinha, Filipa Almeida, C. Melo, S. Neves, Francisca Palha, Gabriela Sa, H. Fonseca
Introduction: Unintentional injuries are an important cause of death in adolescents, as well as a major cause of ill health. This age group is prone to unintentional injuries due to their specific biological, psychological, and social characteristics. To prevent these injuries, it is crucial to understand their prevalence and associated factors. The aim of this study was to identify and characterize unintentional injuries in adolescents and their potential impact on health and life. Material and Methods: Prospective, observational, two-center study over one year based on a survey of adolescents admitted to the Emergency Department due to unintentional injuries. Results: The study included 1054 adolescents (840 from Center A and 214 from Center B), mostly male (58.2%), 51.6% of which in early adolescence (10 to 13 years old) and only 11.2% in late adolescence (17 to 18 years old). Alchool or drug use were reported by 2.3% of participants. Main reported injuries included traumatic injuries (mainly during sports), accidental falls (mainly at school), and road traffic accidents (being run over by a car as the most frequent). Acidental falls and traumatic injuries were more common in early adolescence, whereas burns, road traffic accidents, and intoxications were more frequent in middle adolescence. Low frequency of personal protection equipment use (31.3%) was reported by bycicle riders. School absence was reported in 31% of cases, mainly associated with traumatic injuries (49.8%) and falls (40.1%). Conclusion: Most reported unintentional injuries had preventable causes and their prevalence was developmental stage-dependent. These results provide additional data for implementation of preventive measures according to developmental adolescence stages.
导言:意外伤害是青少年死亡的一个重要原因,也是健康不良的一个主要原因。这一年龄组由于其特定的生理、心理和社会特征,容易发生意外伤害。为了预防这些伤害,了解其流行情况和相关因素至关重要。本研究的目的是识别和表征青少年的意外伤害及其对健康和生活的潜在影响。材料和方法:前瞻性、观察性、双中心研究,基于对因意外伤害而进入急诊科的青少年的调查,为期一年。结果:共纳入1054名青少年(A中心840名,B中心214名),以男性为主(58.2%),其中青春期早期(10 ~ 13岁)占51.6%,青春期晚期(17 ~ 18岁)仅占11.2%。2.3%的参与者报告有上学或吸毒的情况。报告的主要伤害包括创伤性伤害(主要在运动中)、意外跌倒(主要在学校)和道路交通事故(最常见的是被汽车碾过)。意外跌倒和外伤在青春期早期更为常见,而烧伤、道路交通事故和中毒在青春期中期更为常见。骑自行车的人使用个人防护装备的频率较低(31.3%)。31%的病例报告缺勤,主要与创伤(49.8%)和跌倒(40.1%)有关。结论:大多数报告的意外伤害具有可预防的原因,其发生率与发育阶段有关。这些结果为根据青春期发育阶段实施预防措施提供了额外的数据。
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引用次数: 0
Screen time use in children less than five years old 五岁以下儿童的屏幕使用时间
Pub Date : 2020-12-09 DOI: 10.25753/BIRTHGROWTHMJ.V29.I4.18378
J. Ferreira, Bárbara Prucha, Odete Pinto, R. Souto, R. Lima, Carla Morna
Introduction: While the limited use of high-quality and appropriate media may have a positive influence, excessive exposure carries health risks for young children and their families. Research suggests that increased screen time in young children is linked to negative health outcomes, including obesity, decreased cognitive and language development and reduced academic success. In this study we aimed to characterize the screen-time habits in a healthy population of children, aged between six months and five years, of two Family Healthcare Units of an urban area in northern Portugal, and to review the current literature on children’s screen time and health-related issues. Methods: This is a cross-sectional, observational and analytic study. We selected a convenience sample of children aged between six months and five years who were assessed at a scheduled surveillance visit and a questionnaire was applied to the caregivers between February and July 2018. Results: One hundred sixty-six children were included. The mean age was 30 months; 53% were males. Television dominated total screen time. About 85% of children under two years-old and 80% of infants six to 12-months-old were exposed to screens daily, with 79% of them spending up to one hour per day in front of screens. The majority of parents of children aged two years and older were present and set limits on their children’s screen use. Overall, only 39% of parents affirmed to be aware of current guidelines for screen time. In our study, children’s screen time habits were not related with parents’ socioeconomic or academic status. Parents’ knowledge about current guidelines also did not minimize children’s screen use (p=0,094). Discussion/Conclusion: Young children are exceeding screen time recommendations. Given that parents play a key role in the development of their children’s behaviors and that there is no evidence to support introducing screens at an early age, interventions to reduce children’s screen-time in the current media environment are needed.
导言:虽然有限地使用高质量和适当的媒体可能产生积极影响,但过度接触会给幼儿及其家庭带来健康风险。研究表明,幼儿看屏幕时间的增加与负面健康结果有关,包括肥胖、认知和语言发展下降以及学业成绩下降。在这项研究中,我们的目的是描述葡萄牙北部城市地区两个家庭保健单位的6个月至5岁健康儿童的屏幕时间习惯,并回顾目前关于儿童屏幕时间和健康相关问题的文献。方法:这是一项横断面、观察和分析研究。我们选择了一组年龄在6个月至5岁之间的儿童作为方便样本,在2018年2月至7月期间对他们进行了定期监测访问评估,并对照顾者进行了问卷调查。结果:共纳入166名儿童。平均年龄30个月;53%为男性。电视占据了整个屏幕时间。约85%的两岁以下儿童和80%的6至12个月大的婴儿每天都暴露在屏幕前,其中79%的人每天在屏幕前的时间长达一小时。大多数两岁及以上儿童的父母都在场,并对孩子的屏幕使用进行了限制。总体而言,只有39%的家长肯定知道目前关于屏幕时间的指导方针。在我们的研究中,儿童的屏幕时间习惯与父母的社会经济地位或学术地位无关。父母对现行指导方针的了解也没有减少儿童使用屏幕(p=0,094)。讨论/结论:幼儿的屏幕时间超过了建议的时间。鉴于父母在孩子的行为发展中起着关键作用,而且没有证据支持在幼儿时期引入屏幕,因此需要采取干预措施,在当前的媒体环境中减少儿童的屏幕时间。
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引用次数: 2
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Nascer e Crescer
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