Nascer e Crescer最新文献_第3页

Castleman disease. A rare diagnosis in childhood Castleman病。在儿童时期罕见的诊断

Nascer e Crescer Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18640

S. Cunha, S. Vasconcelos, Cláudia Neto, Tereza Oliva, M. Salgado

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

Nascer e Crescer Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18910

D. Cardoso, L. Duarte, Vanessa Fonseca Pinto, T. Cartaxo

{"title":"Pica and attention deficit hyperactivity disorder: is there a link? Comorbidity and treatment outcomes with methylphenidate","authors":"D. Cardoso, L. Duarte, Vanessa Fonseca Pinto, T. Cartaxo","doi":"10.25753/BIRTHGROWTHMJ.V30.I1.18910","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V30.I1.18910","url":null,"abstract":"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.\u0000Methods: 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.\u0000Results: 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.\u0000Discussion: 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.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"26 1","pages":"12-17"},"PeriodicalIF":0.0,"publicationDate":"2021-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85125305","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: 1

Gastroenterological clinical case 胃肠病学临床病例

Nascer e Crescer Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18730

Mariana Portela, C. Barroso, J. L. Carvalho, M.J.M. Gomes

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

Nascer e Crescer Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18699

Joana Ferreira, J. Fonseca, M. Vieira

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

Nascer e Crescer 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

{"title":"Suspecting classical homocystinuria in an adolescent born before the newborn screening program","authors":"F. Carvalho, T. Campos, Joana Reis, Mariana Portela, C. Vasconcelos, Carla Ferreira, Arnaldo Cerqueira, Â. Oliveira, L. Vilarinho, E. Leão‐Teles, E. Rodrigues","doi":"10.25753/BIRTHGROWTHMJ.V30.I1.18753","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V30.I1.18753","url":null,"abstract":"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.\u0000Case 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.\u0000Discussion: 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.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"65 1","pages":"44-47"},"PeriodicalIF":0.0,"publicationDate":"2021-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75435922","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

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

Nascer e Crescer Pub Date : 2021-04-06 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.20315

Carmen Carvalho, A. Freitas, L. Pinho, A. Novo

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）

Nascer e Crescer Pub Date : 2021-04-01 DOI: 10.25753/BIRTHGROWTHMJ.V30.I1.18708

Diana Costa, N. Pinto, A. S. Marinho, J. Pinto

{"title":"Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)","authors":"Diana Costa, N. Pinto, A. S. Marinho, J. Pinto","doi":"10.25753/BIRTHGROWTHMJ.V30.I1.18708","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V30.I1.18708","url":null,"abstract":"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.\u0000Due 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.\u0000Objectives: 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.\u0000Results: 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.\u0000Conclusion: 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.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"30 1","pages":"26-32"},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42115473","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

Pediatric genetic testing in the genomics era 基因组时代的儿科基因检测

Nascer e Crescer Pub Date : 2020-12-23 DOI: 10.25753/BIRTHGROWTHMJ.V29.I4.21912

C. Falcão-Reis

{"title":"Pediatric genetic testing in the genomics era","authors":"C. Falcão-Reis","doi":"10.25753/BIRTHGROWTHMJ.V29.I4.21912","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I4.21912","url":null,"abstract":"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","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"89 1","pages":"178-179"},"PeriodicalIF":0.0,"publicationDate":"2020-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85963278","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

Unintentional injuries and associated factors among adolescents 青少年中的意外伤害及其相关因素

Nascer e Crescer 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

{"title":"Unintentional injuries and associated factors among adolescents","authors":"D. Bordalo, Paula Fonseca, Tânia Lopes, Sara Rolim, Joana Figueirinha, Filipa Almeida, C. Melo, S. Neves, Francisca Palha, Gabriela Sa, H. Fonseca","doi":"10.25753/BIRTHGROWTHMJ.V29.I4.18455","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I4.18455","url":null,"abstract":"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.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"16 1","pages":"180-187"},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84398332","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

Screen time use in children less than five years old 五岁以下儿童的屏幕使用时间

Nascer e Crescer Pub Date : 2020-12-09 DOI: 10.25753/BIRTHGROWTHMJ.V29.I4.18378

J. Ferreira, Bárbara Prucha, Odete Pinto, R. Souto, R. Lima, Carla Morna

{"title":"Screen time use in children less than five years old","authors":"J. Ferreira, Bárbara Prucha, Odete Pinto, R. Souto, R. Lima, Carla Morna","doi":"10.25753/BIRTHGROWTHMJ.V29.I4.18378","DOIUrl":"https://doi.org/10.25753/BIRTHGROWTHMJ.V29.I4.18378","url":null,"abstract":"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.","PeriodicalId":31313,"journal":{"name":"Nascer e Crescer","volume":"13 1","pages":"188-195"},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82096416","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: 2