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Prenatal diagnosis of congenital chloride diarrhea: A case report. 先天性氯化物腹泻的产前诊断1例。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-06-01 Epub Date: 2023-12-07 DOI: 10.5546/aap.2023-10167.eng
Qianqian Cheng, Chongquan Huang

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.

先天性氯化物腹泻(CCD)是一种罕见但重要的遗传性疾病,其特征是肠道氯化物吸收受损导致严重的电解质失衡。受影响的儿童出现持续腹泻、脱水和营养不良,使医疗和发育护理复杂化。加强产前检测对改善患者管理、早期干预和知情遗传咨询至关重要。然而,尽管医学取得了进步,但CCD的复杂性和罕见性使得产前检测具有挑战性。在本研究中,我们报告了一个胎儿病例,其中产前磁共振成像(MRI)有效地识别了CCD的独特特征,为诊断的复杂性提供了见解,并为增强早期检测策略提供了途径。
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引用次数: 0
Antenatal corticosteroids: Sharpening our aim. 产前皮质类固醇:明确我们的目标。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-06-01 Epub Date: 2024-01-04 DOI: 10.5546/aap.2023-10272.eng
Néstor E Vain, Fernando Althabe
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引用次数: 0
Congenital depressed skull fracture ("ping-pong" fracture) in newborn infants as a differential diagnosis of physical abuse. 新生儿先天性颅骨凹陷性骨折("乒乓 "骨折)作为身体虐待的鉴别诊断。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-06-01 Epub Date: 2024-01-18 DOI: 10.5546/aap.2023-10139.eng
Alicia Morikone, Juan Pablo Mouesca

Depressed skull fractures without a clear explanation as to their origin point to trauma with a blunt object and suspected child abuse. In the case of newborn infants, their young age is a vulnerability factor and requires an exhaustive assessment. When child abuse is suspected, an assessment of the differential diagnoses is required to make the most appropriate intervention possible. Both an excessive intervention and an omission of a necessary intervention should be avoided. Congenital depressed skull fractures, described as "ping-pong fractures", are rare (0.3 to 2/10 000 births). They may appear without any trauma history or in instrumentalized childbirth. Here we describe the case of a newborn infant with a ping-pong fracture as an example of an accidental fracture.

颅骨凹陷性骨折如果没有明确的原因,则可能是钝器造成的外伤,疑似虐待儿童。对于新生儿来说,年龄小是一个易受伤害的因素,需要进行详尽的评估。当怀疑有虐待儿童行为时,需要对鉴别诊断进行评估,以便尽可能采取最适当的干预措施。既要避免过度干预,也要避免遗漏必要的干预。被称为 "乒乓球骨折 "的先天性凹陷性颅骨骨折非常罕见(0.3 至 2/10 000 例新生儿)。它们可能在没有任何外伤史或工具化分娩时出现。在此,我们将描述一例新生儿乒乓球骨折的意外骨折病例。
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引用次数: 0
The utility and reliability of the PreViAs questionnaire forthe assessment of vision in Turkish neonates and infants. PreViAs问卷在土耳其新生儿和婴儿视力评估中的实用性和可靠性。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-06-01 Epub Date: 2023-10-19 DOI: 10.5546/aap.2023-10085.eng
Sara Erol, Pelin Çelik, Eray Kılıç, Merve Küçükoğlu Keser, Ali K Tehçi, Zeynep Özdereli, Mehmet Sayın, Ayşegül N Çıtak Kurt

Introduction: Evaluating the visual functions of children with an easy-to-use and evidence-based method during the preverbal period will enable early diagnosis and intervention of visual impairments. The aim of this study is to determine the utility and reliability of the Turkish version of the Preverbal Visual Assessment (PreViAs) questionnaire, which was developed to evaluate the visual functioning of preverbal infants. Population and Methods: The PreViAs questionnaire was administered to primary caregivers of term infants under 24 months of age, and their responses were recorded. Results: Data from the 278 participating infants were analyzed to assess the internal consistency of the PreViAs questionnaire. Results showed a high level of consistency with Cronbach's alpha value of 0.958 for the total score, suggesting strong internal coherence. In addition, the Cronbach's alpha values for each domain were 0.890, 0.913, 0.951, and 0.922 for visual attention, visual communication, visual processing, and visual-motor coordination, respectively, indicating good internal consistency for each subdomain. Conclusion: The Turkish version of the PreViAs questionnaire is useful and reliable for assessing functional vision during the preverbal period.

引言:在言语前阶段,用一种易于使用和循证的方法评估儿童的视觉功能,将有助于早期诊断和干预视觉障碍。本研究的目的是确定土耳其版语言前视觉评估(PreViAs)问卷的实用性和可靠性,该问卷旨在评估语言前婴儿的视觉功能。人群和方法:对24个月以下足月儿的主要照顾者进行PreViAs问卷调查,并记录他们的回答。结果:对278名参与婴儿的数据进行分析,以评估PreViAs问卷的内部一致性。结果显示,总分与Cronbachα值0.958高度一致,表明内部连贯性强。此外,视觉注意力、视觉交流、视觉处理和视觉运动协调的每个域的Cronbachα值分别为0.890、0.913、0.951和0.922,表明每个子域具有良好的内部一致性。结论:土耳其语版PreViAs问卷可用于评估语前期的功能性视力。
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引用次数: 0
Analysis of early childhood development according to the nurturing care framework, by wealth quintiles and regions of Argentina (2019-2020). 根据养育护理框架,按财富五分位数和阿根廷各地区对幼儿发展的分析(2019-2020年)。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-06-01 Epub Date: 2023-11-23 DOI: 10.5546/aap.2023-10081.eng
María E Herrera Vegas, María E Zapata, María C Nessier, Agustina Marconi, Alicia Rovirosa, Paula Gómez

Introduction. One of the main challenges for early childhood is to provide adequate care to reduce inequalities and promote an early childhood development (ECD). The objective of this study was to describe the relationship between the care provided to children aged 3 and 4 years according to the nurturing care (NC) framework and their ECD levels in Argentina, considering the region and wealth quintiles. Population and methods. This was an observational, cross-sectional analytical study based on data from the National Survey of Children and Adolescents (MICS) of Argentina 2019-2020. A total of 11 NC indicators were selected; the level of ECD was estimated using the Early Childhood Development Index (ECDI) for a descriptive, statistical analysis. Results. In 2638 children aged 3 and 4 years assessed, the average access to care indicators was 79.1%; access was high for 7 indicators (between 84.2% and 97.9%) and middle for 4 indicators (between 46.9% and 65.1%); the highest and lowest frequency corresponded to having a birth certificate (97.9%) and health insurance coverage (46.9%), respectively. Adequate ECDI levels were observed in 87.9%. Results show differences by wealth quintile and region. Conclusions. The results evidence inequalities in terms of access to care and an adequate ECD of children aged 3 and 4 years from urban areas of Argentina, depending on the region where they live and their household wealth level.

介绍幼儿期面临的主要挑战之一是提供足够的护理,以减少不平等现象,促进幼儿发展。本研究的目的是描述根据养育护理(NC)框架为3岁和4岁儿童提供的护理与阿根廷儿童发展水平之间的关系,考虑地区和财富五分位数。人口和方法。这是一项基于2019-2020年阿根廷全国儿童和青少年调查数据的观察性横断面分析研究。共选择了11个NC指标;使用幼儿发展指数(ECDI)进行描述性统计分析来估计ECD水平。后果在接受评估的2638名3岁和4岁儿童中,获得护理的平均指标为79.1%;7项指标的可及性较高(84.2%至97.9%),4项指标的可达性中等(46.9%至65.1%);最高和最低频率分别对应于有出生证明(97.9%)和健康保险(46.9%)。87.9%的人观察到足够的ECDI水平。结果显示,财富五分位数和地区之间存在差异。结论。研究结果表明,阿根廷城市地区3岁和4岁儿童在获得护理和适当幼儿发展方面存在不平等,这取决于他们居住的地区和家庭财富水平。
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引用次数: 0
Dengue fever in a 32-day-old patient. A rare case report. 一名32天大的患者出现登革热。罕见病例报告。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-10-26 DOI: 10.5546/aap.2023-10144.eng
Carolina G Goldberg, Alejandra F López Alarcón, María L Salocha, María F Otero, Mairena Jiménez, Andrea Medina, Rubén de Sousa Serro

Dengue fever is a viral disease transmitted by the Aedes aegypti mosquitoes. In Argentina, dengue fever is an epidemic disease; most cases are reported during the hot months. Until epidemiological week (EW) 20/2023, 106 672 cases were reported across 18 of the 24 provinces of Argentina. Children younger than 2 years are among the main groups at risk. Recognizing signs and symptoms and identifying risk factors is fundamental for the management of cases at a higher risk of severity. Here we describe the case of a 32-day-old female patient who was hospitalized due to febrile syndrome without a source, who had a differential diagnosis of viral meningitis and sepsis and progressed to leukocytosis, thrombocytopenia, hypoalbuminemia in association with rash and edema. The diagnosis of dengue fever was established based on clinical, epidemiological, and positive IgM data.

登革热是一种由埃及伊蚊传播的病毒性疾病。在阿根廷,登革热是一种流行病;大多数病例是在炎热的月份报告的。截至2023年20日流行病学周(EW),阿根廷24个省中的18个省报告了106672例病例。2岁以下的儿童是面临风险的主要群体。识别体征和症状并识别风险因素对于管理严重程度较高的病例至关重要。在这里,我们描述了一例32天大的女性患者,她因无来源的发热综合征住院,对病毒性脑膜炎和败血症进行了鉴别诊断,并发展为白细胞增多症、血小板减少症、低蛋白血症并伴有皮疹和水肿。登革热的诊断是根据临床、流行病学和阳性IgM数据确定的。
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引用次数: 0
Tuberculosis in childhood and adolescence: The situation after the COVID-19 pandemic. 儿童和青少年结核病:COVID-19大流行后的情况。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-10-12 DOI: 10.5546/aap.2023-10193.eng
Norma E González
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引用次数: 0
Impact of the SARS-CoV-2 pandemic on the body mass index of children seen in the City of Buenos Aires. 严重急性呼吸系统综合征冠状病毒2型疫情对布宜诺斯艾利斯市儿童体重指数的影响。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-10-12 DOI: 10.5546/aap.2023-10064.eng
Gabriela Sanluis Fenelli, Manuel Rodríguez Tablado, Fernando Ferrero, María F Ossorio, Mabel Ferraro, Fernando Torres

Introduction. Childhood overweight and obesity are a public health problem. The onset of the COVID-19 pandemic may have contributed to this condition. The body mass index (BMI) Z-score has been accepted as an indicator for overweight and obesity diagnosis and follow-up. Objective. To assess whether the prevalence of overweight and obesity and the BMI Z-score in children aged 2 to 5 years increased during the pandemic. Population and methods. Retrospective, cohort study. Patients included were those seen at public health care facilities in the City of Buenos Aires (CABA), who were aged 2 to 5 years, had weight and height values recorded at 2 different visits, before and after the establishment of the preventive and mandatory social isolation policy. Patients' nutritional status (BMI Z-score) and the variation in this indicator between both visits were recorded. Results. A total of 3866 subjects were assessed; their average age was 3.4 ± 0.8 years; 48.1% were girls. The average interval between both visits was 14.3 ± 2.5 months. The prevalence of overweight/ obesity increased from 12.6% (95% CI: 11.6-13.6) to 20.9% (95% CI: 19.6-22.2), p < 0.001, and so did the BMI Z-score (0.4 ± 1.1 versus 0.8 ± 1.3, p < 0.001). Conclusion. The prevalence of overweight and obesity and the BMI Z-score in children aged 2 to 5 years increased significantly during the pandemic.

介绍儿童超重和肥胖是一个公共健康问题。新冠肺炎大流行的爆发可能导致了这种情况。体重指数(BMI)Z评分已被公认为超重和肥胖诊断和随访的指标。客观的评估疫情期间2至5岁儿童超重和肥胖的患病率以及BMI Z评分是否增加。人口和方法。回顾性队列研究。包括在布宜诺斯艾利斯市公共卫生保健机构就诊的患者,年龄在2至5岁之间,在制定预防性和强制性社会隔离政策之前和之后,在两次不同的就诊中记录了体重和身高值。记录患者的营养状况(BMI Z评分)以及两次就诊之间该指标的变化。后果共对3866名受试者进行了评估;平均年龄3.4±0.8岁;48.1%是女孩。两次就诊的平均间隔时间为14.3±2.5个月。超重/肥胖的患病率从12.6%(95%CI:11.6-13.6)增加到20.9%(95%CI:19.6-22.2),p<0.001,BMI Z评分也增加了(0.4±1.1对0.8±1.3,p<0.001)。在疫情期间,2至5岁儿童超重和肥胖的患病率以及BMI Z评分显著增加。
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引用次数: 0
Guidelines for the prevention and treatment of glucocorticoid-induced osteoporosis in pediatrics. 儿科糖皮质激素诱发骨质疏松症的预防和治疗指南。
IF 0.7 4区 医学 Q4 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-07-06 DOI: 10.5546/aap.2022-02948.eng
Oscar Brunetto, Hamilton R Cassinelli, Graciela Espada, Gisela L Viterbo, Silvia M Meiorin, María F Ahumada, Luciana Brenzoni, María C Maher, Ignacio Chavero, Luis A Ramírez Stieben, María L Brance

Objective. To provide a framework for healthcare professionals managing pediatric patients who are on active glucocorticoid (GC) therapy and to develop recommendations for the prevention and treatment of GC-induced osteoporosis in the pediatric population. Methods. A panel of experts on bone and pediatric diseases developed a series of PICO questions that address issues related to the prevention and treatment of osteoporosis in patients on GC therapy. In accordance with the GRADE approach, we conducted a systematic review of the literature, summarized effect estimations, and classified the quality of the evidence. Then, voting and the formulation of recommendations followed. Results. Seven recommendations and six general principles were developed for GC-induced osteoporosis in the pediatric population. Conclusion. These recommendations provide guidance for clinicians who must make decisions concerning pediatric patients undergoing treatment with GC.

目的为医护人员管理正在接受糖皮质激素(GC)治疗的儿科患者提供一个框架,并为预防和治疗 GC 引起的儿科骨质疏松症提出建议。方法。一个由骨骼和儿科疾病专家组成的小组提出了一系列 PICO 问题,以解决与预防和治疗接受糖皮质激素治疗的患者骨质疏松症相关的问题。根据 GRADE 方法,我们对文献进行了系统性回顾,总结了效果评估,并对证据质量进行了分类。然后进行投票并提出建议。结果。针对 GC 引起的儿童骨质疏松症提出了七项建议和六项一般原则。结论。这些建议为必须对接受 GC 治疗的儿科患者做出决定的临床医生提供了指导。
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引用次数: 0
Methemoglobinemia and acute ıntravascular hemolysis after naphthalene poisoning in a pediatric patient. 一名儿童患者萘中毒后的甲血红蛋白血症和急性血管内溶血。
IF 0.8 4区 医学 Q4 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-10-12 DOI: 10.5546/aap.2023-10095.eng
Özhan Orhan, Mehmet N Talay

Poisoning by naphthalene is uncommon in children. It is a type of poisoning brought on by ingesting, inhaling, or coming into touch with naphthalene-containing substances on the skin. Patients typically present with an initial onset of dark brown urine, watery diarrhea, and bile vomit. The signs include fever, tachycardia, hypotension, and low pulse oximetry readings even with oxygen support. Hemolytic anemia, methemoglobinemia, renal failure, and hyperbilirubinemia are all detected in blood tests. Erythrocyte transfusion, ascorbic acid, methylene blue, and N-acetylcysteine (NAC) therapies are provided to inpatients in addition to symptomatic treatment. We present a 23-month-old male patient who developed methemoglobinemia and acute ıntravascular hemolysis, who was followed up in the intensive care unit for five days due to naphthalene intoxication. Although naphthalene poisoning is very rare, it should be known that it has fatal consequences, and more care should be taken in its use and sale.

萘中毒在儿童中并不常见。这是一种由摄入、吸入或接触皮肤上含萘物质引起的中毒。患者通常最初出现深棕色尿液、水样腹泻和胆汁呕吐。症状包括发烧、心动过速、低血压和脉搏血氧计读数低,即使有氧气支持。溶血性贫血、高铁血红蛋白血症、肾衰竭和高胆红素血症都在血液测试中检测到。除了症状治疗外,还为住院患者提供红细胞输注、抗坏血酸、亚甲基蓝和N-乙酰半胱氨酸(NAC)治疗。我们报告了一名23个月大的男性患者,他出现了高铁血红蛋白血症和急性血管内溶血,由于萘中毒在重症监护室随访了五天。虽然萘中毒非常罕见,但应该知道它有致命的后果,在使用和销售时应该更加小心。
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引用次数: 0
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Archivos argentinos de pediatria
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