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Primary Amenorrhea in Pallister Killian Syndrome: Clinical Manifestation or Complication? Pallister-Killian综合征的原发性闭经:临床表现还是并发症?
Pub Date : 2021-06-02 DOI: 10.12974/2311-8687.2021.09.4
L. Abbattista, P. Baldassarre, Roberta Grazi, V. Calcaterra, P. Carlucci, V. Fabiano, P. Erba, E. Verduci, G. Zuccotti
Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression.Patient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism.Conclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status. 
引言:Pallister-Killian综合征(PKS)是一种罕见的遗传性疾病,由12号染色体短臂(12p)的镶嵌四体引起。PKS具有广泛的临床表现,不同年龄组的临床表现各不相同。然而,在最新的文献中,没有报告与该综合征相关的青春期障碍病例。我们描述了一名患有原发性闭经的17岁高加索PKS女孩,认为其青春期发育不全。患者:在第一次全身检查时,患者表现出与成年PKS兼容的表型。辅助数据显示营养不良(BMI?3 z评分),青春期Tanner 3期。检测到骨龄延迟。在盆腔超声检查中发现了青春期前的子宫和微卵泡卵巢。实验室数据与促性腺功能减退症一致。结论:这是PKS中第一例原发性闭经。在其他受相同疾病影响的患者中重新评估这一新发现,以确定促性腺功能减退症是该综合征的典型临床表现,还是继发于营养和压力状态,这将是一件有趣的事情。
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引用次数: 0
Phytoestrogens in Soybean and Precocious Pubertal Development: Causality or Casuality? 大豆中的植物雌激素与早熟:因果关系还是偶然关系?
Pub Date : 2021-06-02 DOI: 10.12974/2311-8687.2021.09.6
V. Calcaterra, C. Regalbuto, G. Mercurio, E. Tenuta, E. Verduci, G. Zuccotti, V. Fabiano
Introduction: Data on the effects of phytoestrogens soy exposure on pubertal timing have been equivocal. We reported a case of a girl who had eaten only soy and derivatives for her first 9 years of life and presented clinical manifestation of precocious pubertal development.Case presentation: A caucasian female infant, after 40 days of exclusive breastfeeding, was introduced to soy formula due to suspected milk protein allergy. Since then, the patient ate soy beverage and soy-based foods exclusively. At the age of 7 years and 9 months, the girl showed premature thelarche and pubarche. Advanced skeletal age was detected. Peak of LH after GnRH stimulation test was <5 mU/ml. At the age of 9 years, Tanner pubertal stage was 3, with a further advanced bone age; initial pubertal growth spurt and estrogenization of the external genitalia were also revealed. GnRH stimulation test produced a peak of LH 3.7 mU/ml. Other hormonal parameters resulted within normality ranges. Suspension of the intake of soy-based Fozods was adopted. After 6- 12 months of follow-up, the physical examination and lab results were unchanged compared to the previous investigation, without progression of bone age. A slow progression of puberty was recorded. The patient had menarche at the age of 11 years and 1 month.Conclusion: This case suggests that soybean compounds may play a key role, as an environmental factor, in the precocious pubertal development. Special attention to diet is mandatory in pediatric age in order to preserve a physiological development and future health. 
引言:关于植物雌激素大豆暴露对青春期时间的影响的数据一直是模棱两可的。我们报告了一个女孩的病例,她在生命的前9年只吃大豆及其衍生物,并表现出青春期早熟的临床表现。病例介绍:一名白人女婴在纯母乳喂养40天后,因疑似牛奶蛋白过敏而被引入大豆配方奶粉。从那时起,患者只吃大豆饮料和大豆食品。在7岁零9个月大时,女孩表现出阴道和耻骨过早。检测到骨龄晚期。GnRH刺激试验后LH峰值<5mU/ml。9岁时,Tanner青春期为3岁,骨龄进一步晚期;还揭示了青春期最初的生长突增和外生殖器的雌激素化。GnRH刺激试验产生的LH峰值为3.7mU/ml。其他激素参数在正常范围内。采用了大豆基Fozods的悬浮摄入量。随访6-12个月后,体格检查和实验室结果与之前的研究相比没有变化,没有骨龄的进展。青春期进展缓慢。患者在11岁零1个月时出现月经初潮。结论:该病例表明,大豆化合物可能作为环境因素在青春期早熟发育中发挥关键作用。在儿童年龄段,为了保持生理发育和未来的健康,必须特别注意饮食。
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引用次数: 0
Cannabis Intoxication, a Neglected Cause of Altered Level of Consciousness in Children: A Case Series 大麻中毒是儿童意识水平改变的一个被忽视的原因:一个案例系列
Pub Date : 2021-06-02 DOI: 10.12974/2311-8687.2021.09.5
A. Mari, L. Gianolio, L. Abbattista, Francesca Ripoli, V. Calcaterra, V. Fabiano
Altered level of consciousness (ALC) represents a neurological emergency, which demands a methodical approach to evaluation and treatment. Emergency departments’ Paediatricians dealing with children with ALC need a rapid and reliable diagnostic process to rule out life-threatening conditions. ALC can be caused by structural and non-structural conditions, and, among non-structural conditions, intoxications must always be investigated. Toddlers and young children exposed to cannabis may present ALC due to explorative ingestion of the substance.We report three cases of toddlers who were admitted to our emergency department over a 12-month period with ALC due to cannabis intoxication. The three cases highlight how clinical presentation of cannabis intoxication can be variegated.Therefore, in case of afebrile children presenting with ALC Cannabis intoxication must be suspected and a urine drug test should be performed. 
意识水平改变(ALC)代表一种神经紧急情况,需要有系统的评估和治疗方法。急诊科的儿科医生需要一个快速可靠的诊断过程来排除危及生命的情况。ALC可由结构和非结构条件引起,在非结构条件中,必须始终调查中毒情况。接触大麻的幼儿和幼儿可能因探索性摄入大麻而出现ALC。我们报告了三例幼儿,他们在12个月内因大麻中毒而患ALC,住进了我们的急诊室。这三个案例突出了大麻中毒的临床表现是如何多样化的。因此,在无热的情况下,必须怀疑儿童出现ALC大麻中毒,并进行尿液药物测试。
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引用次数: 0
A Systematic Review of Gastrointestinal Manifestations in Children Presenting with COVID-19 新冠肺炎患儿胃肠道表现的系统评价
Pub Date : 2021-06-02 DOI: 10.12974/2311-8687.2021.09.1
S. Salvatore, M. Agosti, S. Arrigo, M. Stracuzzi, D. Dilillo, L. Folgori, R. Giacchero, V. Giacomet, E. Longoni, A. Meini, G. Marseglia, A. Plebani, A. Ruffolo, L. Barcellini, G. Zuccotti
SARS-CoV-2 infection commonly presents with mild to severe respiratory symptoms and possibly other organs involvement. Gastrointestinal manifestations have been frequently documented in adult patients whilst their occurrence in children is uncertain. This study aimed to perform a Systematic Review of gastrointestinal symptoms in children with Coronavirus disease (COVID-19) and to compare these clinical findings with those reported in a cohort of Italian children in the early phase of pandemic.Methods: Literature search was conducted using the Cochrane Library and MEDLINE (via Pubmed) databases from 1st December 2019 to 28th April 2020, according to the PRISMA guidelines. The following search terms were inserted: “Coronavirus” OR “COVID-19” OR “SARS-CoV-2” AND “gastrointestinal” or “diarrhea”. Only papers including children (0-18 years) and gastrointestinal symptoms were considered as eligible. Data records of children living in Lombardy, Italy, with infection of SARS-CoV-2 diagnosed by rRT-PCR on pharyngeal swabs, from 1st March to 28th April were also collected, analyzed and compared.Results: The Systematic Review showed that only a minority of studies assessed gastrointestinal symptoms in children. However, diarrhea accounted for 0-50%, vomit 5-67% and abdominal pain 5.8-33.3% of infected children and gastrointestinal symptoms may represent the sole feature of COVID-19. Gastrointestinal symptoms were reported in 51/116 (44%) Italian children with SARS-CoV-2 infection. Poor feeding was present in 23.3% of children, diarrhea (median duration 2.3 days, range 1-5 days) in 22.4%, vomit in 10.4% and abdominal pain in 6.9% of cases. Respiratory symptoms were reported in 35.3% of children with gastrointestinal symptoms that represented the first clinical manifestation of COVID-19 in 25% of all patients.Conclusions: We found that gastrointestinal symptoms are common in children with COVID-19 and, in some cases, they may represent the first and the sole clinical manifestation of SARS-CoV-2 infection. Health care professionals must be aware of the frequent gastrointestinal involvement in children to assure an accurate diagnosis and therapeutic management. The correct identification of children with COVID-19 is also crucial to adopt preventive measures and to limit the transmission of the virus. 
严重急性呼吸系统综合征冠状病毒2型感染通常表现为轻度至重度呼吸道症状,并可能涉及其他器官。胃肠道表现在成年患者中经常被记录,而在儿童中的发生率尚不确定。本研究旨在对患有冠状病毒疾病(新冠肺炎)的儿童的胃肠道症状进行系统回顾,并将这些临床发现与大流行早期意大利儿童队列中报告的结果进行比较。方法:根据PRISMA指南,从2019年12月1日至2020年4月28日,使用Cochrane图书馆和MEDLINE(通过Pubmed)数据库进行文献检索。插入了以下搜索词:“冠状病毒”或“新冠肺炎”或“SARS-CoV-2”和“胃肠道”或“腹泻”。只有包括儿童(0-18岁)和胃肠道症状在内的论文才被视为合格。还收集、分析和比较了3月1日至4月28日居住在意大利伦巴第的儿童通过咽拭子rRT PCR诊断感染严重急性呼吸系统综合征冠状病毒2型的数据记录。结果:系统综述显示,只有少数研究评估了儿童的胃肠道症状。然而,腹泻占感染儿童的0-50%,呕吐占5-67%,腹痛占5.8-33.3%,胃肠道症状可能是新冠肺炎的唯一特征。意大利感染严重急性呼吸系统综合征冠状病毒2型的儿童中有51/116(44%)出现胃肠道症状。23.3%的儿童喂养不良,22.4%的儿童腹泻(中位持续时间2.3天,范围1-5天),10.4%的儿童呕吐,6.9%的儿童腹痛。35.3%的胃肠道症状儿童出现呼吸道症状,这是25%的新冠肺炎患者的首次临床表现。结论:我们发现胃肠道症状在新冠肺炎儿童中很常见,在某些情况下,它们可能是SARS-CoV-2感染的第一种也是唯一的临床表现。卫生保健专业人员必须意识到儿童胃肠道的频繁介入,以确保准确的诊断和治疗管理。正确识别新冠肺炎儿童对于采取预防措施和限制病毒传播也至关重要。
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引用次数: 1
Immune Response and Susceptibility to SARS-CoV2 Virus in Children 儿童对SARS-CoV2病毒的免疫反应和易感性
Pub Date : 2021-03-15 DOI: 10.12974/2311-8687.2021.09.2
M. Merchán, Rosa Silva, D. Velandia
: The COVID-19 disease that was first discovered in Wuhan-China province, also called severe acute respiratory syndrome, is a serious public health concern in the 21st century. This disease affects the respiratory system and its causal agent is the SARS-CoV2 virus, which is part of the family of beta-corona viruses that many associate with the bat. This virus not only affects the population that is considered vulnerable but also affects young adults and children. The objective of the present review is to describe the characteristics of the immune response and susceptibility in children with SARS-COV2. We examined articles in the Elsevier, Google Scholar, PubMed and Scielo databases regarding the immune systems of children with the disease of COVID-19 and the physio-pathological mechanisms of SARS-CoV2 that contribute to illness in this population. Although the capacity of infection of SARS-CoV2 in children is very high, the mechanism of the virus against pathogenicity in this population group is not clear. The objective of the present review is to describe the characteristics of the immune response and susceptibility in children with SARS-COV2
:首次在中国武汉发现的新冠肺炎疾病,也称为严重急性呼吸综合征,是21世纪严重的公共卫生问题。这种疾病影响呼吸系统,其病原体是严重急性呼吸系统综合征冠状病毒2型,它是许多与蝙蝠有关的β冠状病毒家族的一部分。这种病毒不仅影响被认为脆弱的人群,还影响年轻人和儿童。本综述的目的是描述严重急性呼吸系统综合征冠状病毒2型儿童的免疫反应和易感性特征。我们研究了爱思唯尔、谷歌学者、PubMed和Scielo数据库中关于新冠肺炎疾病儿童免疫系统以及导致该人群疾病的SARS-CoV2的生理病理机制的文章。尽管儿童感染严重急性呼吸系统综合征冠状病毒2型的能力非常高,但该病毒在该人群中对抗致病性的机制尚不清楚。本综述的目的是描述严重急性呼吸系统综合征冠状病毒2型儿童的免疫反应和易感性特征
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引用次数: 0
Choreic Movements as Manifestation of Hyperthyroidism in an Adolescent at the Onset of Graves’ Disease Graves病发病时青少年甲状腺功能亢进的Choreic运动表现
Pub Date : 2020-10-12 DOI: 10.12974/2311-8687.2020.08.5
V. Calcaterra, M. Burrone, D. Dilillo, G. Zuccotti
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引用次数: 0
Diagnosis of Precocious Puberty in Girls 女孩性早熟的诊断
Pub Date : 2020-07-03 DOI: 10.12974/2311-8687.2020.08.1
E. Bozzola, R. Gaudino, V. Calcaterra, G. Farello, Manuela Gasparri, C. Monti, A. Villani, M. Bozzola
Puberty is one of the most astonishing periods of human life, when significant physical alterations occur along with psychosocial maturation. Precocious Puberty (PP) is defined as the appearance and progressive development of secondary sexual characteristics at a younger age than the general population, i.e. for Caucasian girls before 8 years of age. Untreated precocious puberty usually leads to short stature and can also cause significant emotional and behavioral issues. In recent years, an increased incidence of PP has been found in many countries although several studies now suggest that this trend has slowed down over the last decade in most industrialized countries, while persisting in other countries. Some girls with idiopathic precocious puberty may also have slowly progressive pubertal development without deterioration of their predicted height over a 2-year follow-up period. It is important to determine which girls to treat and the role of the clinician remains crucial. The clinician also needs to be familiar with the terminology of pubertal progression. The aim of this review was to examine the diagnosis of central precocious puberty (CPP) taking in account clinical practice and international literature.
青春期是人类生命中最惊人的时期之一,随着心理社会的成熟,显著的生理变化也随之发生。性早熟(PP)被定义为在比一般人群更年轻的年龄出现和逐渐发展第二性特征,即白人女孩在8岁之前。未经治疗的性早熟通常会导致身材矮小,还会导致严重的情绪和行为问题。近年来,在许多国家发现了PP发病率的增加,尽管现在有几项研究表明,在过去十年中,这一趋势在大多数工业化国家已经放缓,而在其他国家则持续存在。一些特发性性早熟的女孩也可能在2年的随访期间有缓慢进行性青春期发育,但她们的预测身高没有下降。确定治疗哪些女孩很重要,临床医生的作用仍然至关重要。临床医生还需要熟悉青春期发展的术语。本综述的目的是结合临床实践和国际文献,探讨中枢性性早熟(CPP)的诊断。
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引用次数: 0
Teenage Obese Pregnancy: The "Double Burden" of Age and Excessive Weight on the Mother-Offspring Pair’s Health 青少年肥胖怀孕:年龄和超重对母子健康的“双重负担”
Pub Date : 2019-03-08 DOI: 10.12974/2311-8687.2019.07.1
C. Berti, Z. Bhutta, P. Catalano, S. Elahi, M. W. Hanson, M. Krawinkel, V. Savasi, I. Cetin
Obesity and pregnancy are a combination that may create unique interconnected challenges for the health of the next generation. Although pregnant obese adolescents are of concern worldwide, yet it is an issue that is currently unattended to. Here, we provide an overview of the implications for the mother-offspring pair’s health associated to teenage-pregnancy, with a focus on obesity and ‘what works’ to prevent the obesity-risk during pregnancy. Interrelated health-issues are highlighted, which include: increased negative consequences related to childbearing at young age; associations of maternal pre-gravid excessive-weight with maternal and fetal complications; and limited evidence addressing obese pregnancy in adolescents. Targeting adolescents appears the most effective approach to reduce the obesity-risk trajectory of the prospective parents early-in-life, thus breaking the intergenerational cycle of non-communicable diseases. Specifically-focused educational programs with clear and motivational messages about nutrition, physical activity and sexual health, are perceived as key-components of preventive campaigns with digital web-based technology and specialized health-services being the most promising platforms to deliver knowledge. Successful education has a double advantage: to establish healthy behaviors among adolescents at an early-stage of life, thereby preventing both obesity and early pregnancy. Lastly, realistic solutions require also political understanding and commitment. 
肥胖和怀孕的结合可能会给下一代的健康带来独特的相互关联的挑战。尽管怀孕肥胖的青少年在全世界都受到关注,但这是一个目前无人关注的问题。在这里,我们概述了青少年怀孕对母子健康的影响,重点是肥胖和预防怀孕期间肥胖风险的“有效方法”。强调了相互关联的健康问题,其中包括:与年轻生育有关的负面后果增加;孕妇孕前超重与母体和胎儿并发症的关系;关于青少年肥胖怀孕的证据有限。以青少年为目标似乎是减少未来父母早期肥胖风险轨迹的最有效方法,从而打破非传染性疾病的代际循环。有针对性的教育计划,其中包含关于营养、体育活动和性健康的明确和激励性信息,被视为预防运动的关键组成部分,数字网络技术和专业医疗服务是最有希望提供知识的平台。成功的教育有双重优势:在青少年早期建立健康的行为,从而预防肥胖和早孕。最后,现实的解决办法还需要政治理解和承诺。
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引用次数: 0
Religion and Spirituality in Early Childhood Education: A Phenomenological Interpretative Analysis 幼儿教育中的宗教与灵性:现象学解释分析
Pub Date : 2019-03-08 DOI: 10.12974/2311-8687.2019.07.2
Cassandra Chaney, Jennifer A. Baumgartner
Religiosity and spirituality are distinct constructs that can inform the thoughts, emotions, and behaviours of humans; however, few studies have examined the role of these constructs as a frame for early education pedagogy. Given the current void in the literature, this exploratory study will examine the extent these constructs inform early education. By using Interpretive Phenomenological Analysis (IPA) as our foundation, this qualitative, pilot study involves examining the responses of six African American females related to eight questions regarding the role of religiosity and/or spirituality in their educational pedagogy. The authors will provide recommendations regarding how early child educators can use religiosity and/or spirituality to heighten the learning experience for themselves and the children in their care. 
宗教和精神是不同的结构,可以为人类的思想、情感和行为提供信息;然而,很少有研究考察这些结构作为早期教育学框架的作用。鉴于目前文献中的空白,这项探索性研究将考察这些结构在多大程度上影响早期教育。通过使用解释现象学分析(IPA)作为我们的基础,这项定性的试点研究涉及检查六名非裔美国女性对八个问题的回答,这些问题涉及宗教和/或精神在她们的教育学中的作用。作者将就幼儿教育者如何利用宗教信仰和/或精神来提高自己和所照顾儿童的学习体验提出建议。
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引用次数: 0
Congenital Vitamin C Deficiency or Fractures Due to Non-Accidental Injury? 先天性维生素C缺乏或非意外损伤导致骨折?
Pub Date : 2019-01-03 DOI: 10.12974/2311-8687.2018.06.3
C. Paterson
{"title":"Congenital Vitamin C Deficiency or Fractures Due to Non-Accidental Injury?","authors":"C. Paterson","doi":"10.12974/2311-8687.2018.06.3","DOIUrl":"https://doi.org/10.12974/2311-8687.2018.06.3","url":null,"abstract":"","PeriodicalId":91713,"journal":{"name":"International journal of pediatrics and child health","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45693922","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
期刊
International journal of pediatrics and child health
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