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Flebectasia de la vena yugular derecha 右颈静脉瘘
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-06-01 DOI: 10.1016/j.anpedi.2024.04.003
María José Sánchez Malo , Lorena Miñones Suárez , Rasha Isabel Perez Ajami , María Santos González
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引用次数: 0
Cierre percutáneo de comunicación interventricular de gran tamaño en lactante 经皮关闭婴儿大的室间隔缺损
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-06-01 DOI: 10.1016/j.anpedi.2024.03.001
Luis Fernandez Gonzalez , Roberto Blanco Mata , Javier Ayala Curiel , Jose Luis Zunzunegui Martinez
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引用次数: 0
¿Crisis epiléptica o parasomnia? Del conocimiento a la identificación. Epilepsia hipermotora asociada al sueño 癫痫发作还是寄生虫病？从认识到识别。与睡眠相关的高运动性癫痫
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2023.12.013
Ana Cristóvão Ferreira , Joana Moniz Dionísio , Rosário Ferreira , Joana Coelho
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引用次数: 0
Modificación en el manejo de la hiperbilirrubinemia neonatal: cambios hacia la mejora de la calidad asistencial 新生儿高胆红素血症管理的改变：为提高护理质量而做出的改变
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.02.011
Jesús García Vázquez , Paula González Vilaplana , María Portolés Morales , Raquel Escrig Fernández
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引用次数: 0
Evaluación de los primeros 5 años de cribado neonatal de aciduria glutárica tipo 1 en Asturias 对阿斯图里亚斯头五年新生儿谷丙转氨酶尿症 I 型筛查工作的评估。
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.01.013
Ana Isabel Elola Pastor , Belén Prieto García , Juan José Díaz Martín

Introduction

Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community.

Material

We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 μmol/l.

Results

A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life.

Conclusions

Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.

导言：戊二酸尿症 1 型（GA-1）的新生儿筛查为该疾病的病程和结果带来了根本性的改变。本研究分析了我国自治区 AGA1 型新生儿筛查项目头 5 年（2015-2019 年）的结果。所有在 2015 年 1 月 1 日至 2019 年 12 月 31 日期间出生并参加新生儿筛查项目的新生儿均被纳入研究。采用串联质谱法测量干血斑样本中戊二酰肉碱（C5DC）的浓度，临界点为 0.25 μmol/l。我们发现，根据胎龄、喂养类型和采集样本时的出生时间，C5DC 浓度存在差异。这些差异与筛查目的无关。体重小于和大于 1500 克的新生儿之间没有差异。没有假阴性。基因检测证实了诊断结果。自确诊以来，患者一直在接受治疗，并且在出生后的头 4 年中没有出现过脑病危象。虽然胎龄、喂养方式和抽血时的生命时间会导致 C5DC 水平的差异，但这些因素与筛查无关。
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引用次数: 0
Diagnóstico ecográfico de uveítis anterior en atención primaria 基层医疗机构前葡萄膜炎的超声诊断
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.01.011
Luis Ortiz-González , Carlos Ortiz-Peces , Violeta Calle-Guisado , Luis Ortiz-Peces
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引用次数: 0
Análisis comparativo de las curvas de crecimiento fetal y neonatal 胎儿和新生儿生长曲线的比较分析
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.02.014
Josep Figueras Aloy , Montserrat Izquierdo Renau , Ana Herranz Barbero , Lourdes Urquía Martí , Fermín García-Muñoz Rodrigo , Martín Iriondo Sanz , Óscar García Algar

Introduction

Our aim was to determine which foetal or neonatal growth curves discriminate the probability of dying of newborns with low birth weight for their gestational age (small for gestational age, SGA) and sex (weight < 10th percentile) and to establish the curves that are presumably most useful for monitoring growth through age 10 years.

Material and methods

The analysis included every neonate (15 122) managed in our hospital (2013-2022) and all neonates born preterm before 32 weeks (6913) registered in the SEN1500 database (2019-2022). We considered most useful those curves with the highest likelihood ratio (LR) for dying with or without a history of SGA in each subgroup of gestational ages. Theoretically, the optimal curves for monitoring growth would be those with a higher R2 in the quantile regression formulas for the 50th percentile.

Results

The growth curves exhibiting the strongest association between SGA and hospital mortality are the Intergrowth fetal curves and the Fenton neonatal curves in infants born preterm before 32 weeks. However, the optimal curves for premature babies and neonates overall were those of Olsen and Intergrowth. The most useful curves to monitor anthropometric values alone until age 10 years of age are the longitudinal Intergrowth curves and WHO standards, but if a single reference is desired from birth through age 10 years, the best option is the Fenton curves followed by the WHO standards.

Conclusions

The Intergrowth reference provides the most discriminating foetal growth curves. In neonatal clinical practice, the optimal references are the Fenton and the WHO charts.

导言：我们的目的是确定哪些胎儿或新生儿生长曲线可以区分出生体重低的新生儿在其胎龄（胎龄小，SGA）和性别（体重< 10百分位数）下的死亡概率，并确定哪些曲线可能对监测10岁前的生长发育最有用。材料和方法分析包括本医院管理的所有新生儿（15 122例）（2013-2022年）和SEN1500数据库中登记的所有32周前早产新生儿（6913例）（2019-2022年）。我们认为，在每个胎龄分组中，对于有或无 SGA 死亡史的新生儿而言，似然比 (LR) 最高的曲线最为有用。从理论上讲，监测生长的最佳曲线应该是那些在第 50 百分位数的量子回归公式中具有较高 R2 的曲线。结果在 32 周前早产儿中，SGA 与住院死亡率之间关系最密切的生长曲线是 Intergrowth 胎儿曲线和 Fenton 新生儿曲线。然而，对于早产儿和新生儿而言，最佳的发育曲线是奥尔森曲线和 Intergrowth 曲线。对于 10 岁前的人体测量值，最有用的曲线是纵向的 Intergrowth 曲线和世卫组织标准曲线，但如果需要从出生到 10 岁的单一参考曲线，最好的选择是 Fenton 曲线，然后是世卫组织标准曲线。在新生儿临床实践中，Fenton 和 WHO 图表是最佳参考。
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引用次数: 0
Ecografía clínica en Atención Primaria. Y si hablamos de ecografía pulmonar¿ Porqué seguimos haciendo radiografías? 基层医疗中的临床超声。如果我们谈论肺部超声波，为什么还要拍 X 光片？
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.02.012
Susana Viver Gómez
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引用次数: 0
Queratosis digitada anogenital infantil: entidad benigna poco descrita 婴幼儿肛门指状角化病：一种未充分描述的良性病变
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.01.005
Esther Rivera López, Arturo Lopez-Yañez Blanco
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引用次数: 0
Utilidad de la ecografía clínica craneal en pediatría 临床头颅超声波在儿科中的应用
IF 2.1 4区 医学 Q3 Medicine
Anales de pediatria
Pub Date : 2024-05-01 DOI: 10.1016/j.anpedi.2024.02.017
Luis Ortiz-González , Carlos Ortiz-Peces , Violeta Calle-Guisado , Luis Ortiz-Peces
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引用次数: 0
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