Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant, hereditary, metabolic disease. HoFH patients exhibit severe coronary stenosis and valvular disease, which may result in sudden death, even during adolescence. The challenges faced during surgery and the poor curative effect of conventional lipid-lowering therapy create a treatment bottleneck. We report a rare case of HoFH in a 12-year-old boy with acute myocardial infarction, severe mitral insufficiency, and moderate aortic insufficiency. Coronary artery bypass grafting and valvuloplasty resulted in improved heart function. Postoperative combined lipid-lowering drug therapy was able to reduce low-density lipoprotein cholesterol level from 15.37 mm/L to 6.41 mmol/L. Thus, the combination of medical and surgical treatment was considered effective and can be used to inform treatment guidelines for HoFH with severe complications.

Mingxin Gao

Wenyuan Yu

Hui Hu

Hongli Liu

Kangjun Fan

Chengxiong Gu

Lvya Wang

Yang Yu

Frontiers in Pediatrics

Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia

Purpose The purpose of this study was to observe whether developmental dysplasia of the hip (DDH) affects the development of the femoral head growth plate and to analyze the risk factors. Methods We selected female patients aged between 11 and 20 years with unilateral DDH and unclosed femoral head growth plate (s). The selected patients underwent anteroposterior radiography of the hip joint to compare the degree of development of the femoral head growth plate on both sides and to identify risk factors that affect the development of the growth plate in the femoral head. Results We included 48 female patients with unilateral DDH, with an average age of 14 years (range: 11.1–18.5 years) and an average BMI of 20.4 kg/m² (range: 15.5 kg/m²−27.9 kg/m²). Among them, 23 patients had earlier development of the femoral head growth plate on the affected side than on the healthy side, while the degree of development of the femoral head growth plate in 25 patients was the same as that on the contralateral side. When the Tönnis angle was greater than 29.5°C and/or the Reimers migration index was greater than 48.5%, there was a statistically significant difference in the acceleration of femoral head growth plate development. Conclusion An abnormal relative position of the acetabulum–femoral head caused by DDH can accelerate closure of the femoral head growth plate in immature female patients. The risk factors are a Tönnis angle greater than 29.5°C and/or Reimers migration index greater than 48.5%.

Ningtao Ren

Zhendong Zhang

Yong Li

Ping Zheng

Hui Cheng

Dianzhong Luo

Jianli Zhang

Hong Zhang

Effect of hip dysplasia on the development of the femoral head growth plate

We successfully treated a 4-year-old girl with short bowel syndrome and eosinophilic enterocolitis with teduglutide, a glucagon-like peptide-2 analog. Her eosinophilic enterocolitis was cured without relapse, and we were able to increase enteral nutrition. We found that teduglutide had an anti-inflammatory effect in this patient with eosinophilic gastrointestinal disease associated with short bowel syndrome. This report is the first to describe use of teduglutide in the treatment of eosinophilic gastrointestinal disease.

Shoko Ogawa

Ken-ichiro Konishi

Kiyoshi Tanaka

Hajime Takayasu

Yoshimasa Uematsu

Takashi Ito

Hiroyuki Takahashi

Yusuke Kumamoto

Effect of teduglutide, a glucagon-like peptide-2 analog, in eosinophilic enterocolitis: a case report

胰高血糖素样肽-2类似物替度鲁肽在嗜酸性胃肠炎中的作用：一例报告

Background This study aimed to explore the distribution of intestinal and pharyngeal microbiota on the first day of life in preterm infants and compare the composition of microbiota in infants delivered by cesarean section or vaginally. Methods This study included 44 late preterm infants with a gestational age of 34–36 + 6 weeks. Stool and throat swab samples were collected from the preterm infants on the first day of life. The infants were divided into cesarean section and vaginal delivery groups. Illumina NovaSeq high-throughput sequencing technology was used to sequence the V3-V4 hypervariable region of the 16S rRNA gene of all bacteria in the samples. Venn diagram was used to identify shared operational taxonomic units (OTUs) in the intestines and pharynges. Microbial analysis was conducted at the phylum and genus levels, and α and β diversity comparisons were performed. Results (1) Gestational age may have significantly affected the microbial colonization of the intestines and pharynges of preterm infants on the first day after birth ( p ≤ 0.001). (2) More OTUs were detected in the pharynx than in the intestines, both have a total of 819 shared OTUs. Proteobacteria , Firmicutes , and Bacteroidota were the dominant phyla in both. At the genus level, Streptococcus had a lower relative abundance in stool samples (0.5%) compared to throat samples (0.5% vs. 22.2%, p = 0.003). 3) The relative abundance of Streptococcus in pharyngeal samples was 26.2% in the cesarean section group much higher than the 3.8% in the vaginal delivery group ( p = 0.01). Conclusion The early postnatal period is a critical time for the establishment of an infant's microbiota. Gestational age at birth may influence microbial colonization, while birth weight, gender, and mode of delivery do not. The intestinal and pharyngeal microbiota composition of preterm infants on the first day after birth showed high similarity, but larger samples are needed for further validation.

Jing He

Lijuan Wang

Ying Ruan

Xinyan Yan

Qingju Liu

Boren Chen

Sen Yang

Lijun Du

Comparison of intestinal and pharyngeal microbiota in preterm infants on the first day of life and the characteristics of pharyngeal microbiota in infants delivered by cesarean section or vaginally

早产儿出生第一天肠道和咽部微生物群的比较及剖宫产或阴道分娩婴儿咽部微生物群的特征

Background Tadpole pupil is a rare phenomenon characterized by a brief and irregular deformation of the pupil caused by segmental contraction of the iris dilator muscle. It is most prevalent in adult women and is, in these cases, often associated with migraine. Case presentation We present a unique case of a 16-year-old girl who presented with recurrent episodes of tadpole pupil and vestibular migraine. This association has not been previously demonstrated in pediatric patients. During a thorough clinical examination, a thyroid carcinoma was found which due to its localization was not causative of the tadpole pupil and was considered an incidental finding. Conclusions The association between migraine and tadpole pupil in this patient, which has not previously been described in pediatric patients, adds to the demographics of tadpole pupil. A possible pathophysiological link between the two conditions is discussed but further research is needed to understand the pathophysiology underpinning it.

Alexander Scheid

Rebecca Lise Gammelgaard Henneberg

Jonas Kjeldbjerg Hansen

Case Report: Tadpole pupil and concurrent migraine in an adolescent patient is a novel correlation

病例报告：青少年患者中蝌蚪状瞳孔与并发偏头痛的新关联

Fetomaternal hemorrhage (FMH) is a perplexing obstetric condition that predominantly occurs during the third trimester or at the time of delivery. Its insidious and non-specific onset often leads to diagnostic challenges. The underlying pathophysiology of FMH remains incompletely understood, though it is primarily attributed to compromise of the placental barrier. The severity of the condition is intrinsically associated with the volumn of blood loss, the hemorrhage rate, and the presence of alloimmunity. Upon the occurrence of severe FMH, it can rapidly lead to intrauterine distress, fetal anemia, and the possibility of fetal demise, presenting a considerable threat to both maternal and neonatal well-being. In this article, I present a substantial case of FMH and conduct a systematic review of the current scientific literature regarding the etiology, clinical manifestations, diagnostic approaches, treatment highlights, and prognosis of this condition. The objective of this work is to improve clinicians’ comprehension and diagnostic proficiency concerning FMH.

Peng Li

Hua Shu

Peng Lin

Jishui Wang

Di Zhang

Dongmei Man

Fengge Wang

Case Report: Fetomaternal hemorrhage and its association with pronounced neonatal anemia

病例报告：胎儿母体出血及其与新生儿重度贫血的关联

Introduction Patients with childhood-onset systemic lupus erythematosus (c-SLE) have higher rates of depression than their peers, which has been associated with worse medical outcomes. Therefore, it is imperative that their mental health be addressed. We utilized quality improvement (QI) methodology to automate mental health screening for patients with lupus within a pediatric rheumatology clinic. The retrospective cohort study aims to evaluate the association between mental health screening outcomes and demographics, medications, and disease activity measures in patients with childhood lupus. Methods The mental health QI team at a quaternary pediatric rheumatology center implemented an automated process for mental health screening in patients with c-SLE. Patients seen between 2017 and June 2023 with a diagnosis of c-SLE were identified using International Classification of Disease -Clinical Modification (ICD-CM) codes. Disease activity was assessed with the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI 2K). Medications were identified on outpatient and inpatient orders for conventional synthetic and biologic disease-modifying anti-rheumatic drugs, hydroxychloroquine, corticosteroids, and aspirin. Mental health screening was accomplished with the Patient Health Questionnaire (PHQ). Descriptive statistics, univariate and multivariate linear regression were used. Results Between January 2017 and June 2023, 117 patients with c-SLE (41% with lupus nephritis) completed 534 total screenings. Each patient completed PHQ screenings, a median of 5 [interquartile range 2, 6] times. Screening increased when the screening process was automated. Those who were Black, female, or prescribed leflunomide, mycophenolate, and corticosteroids had higher PHQ scores. Conclusions Mental health support is essential for patients with chronic rheumatologic diseases such as SLE. Sustainable processes for quickly identifying depression are needed for optimal care of patients with SLE. Our process of automated, streamlined mental health screening successfully increased the screening of patients with SLE at every visit and led to timely interventions for positive PHQ scores. Higher PHQ scores were correlated with patients on leflunomide, mycophenolate, and corticosteroids. Future research should identify modifiable risk factors for high PHQ scores that the medical team can target.

Lauren Harper

Stacy P. Ardoin

Alana Leever

Kyla Driest

Vidya Sivaraman

Alysha J. Taxter

Automated mental health screening in pediatric lupus: associations with disease features and treatment

儿童狼疮中的自动化心理健康筛查：与疾病特征和治疗的相关性

Background The effects of long-term glucocorticoid (GC) treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) remain controversial. Objectives This cross-sectional study aimed to evaluate BMD in relation to genotype, growth, vitamin D status, cumulative GC doses, and other relevant factors in youths with CAH. Methods Thirty-two patients with classical CAH (13 males; mean age 26.0 ± 7.1 years) were compared with 32 healthy controls matched by age and sex. BMD was measured using dual-energy x-ray absorptiometry, and statistical analyses, including the Mann–Whitney U -test and Spearman's correlation coefficient, were performed to evaluate differences and associations. Results Median whole-body and lumbar BMD Z -scores were similar between CAH patients and controls ( p = 0.27 and 0.15, respectively). Low bone density was observed in 12.5% of CAH patients and 18.75% of controls ( p = 0.5), and osteoporosis was confirmed in 12.5% of CAH patients and 0% of controls ( p = 0.04). BMD did not correlate with cumulative GC doses, estradiol, renin, phosphate, sodium levels, or anthropometric parameters in CAH patients. There was no significant difference in BMD between severe and non-severe genotypes of CAH. However, a positive correlation was found between the whole-body BMD Z -score and growth velocity during infancy ( r = 0.776, p = 0.021) in CAH patients. Vitamin D deficiency was noted in 56.25% of CAH patients, although vitamin D levels did not correlate with BMD or genotype. No history of bone fractures was reported among study participants. Conclusions CAH patients are at risk of developing osteoporosis, but in this study, BMD Z -scores were not associated with cumulative GC doses. The study did not identify an association between genotype and BMD. Poor growth during infancy was linked to decreased BMD in adulthood.

Ruta Navardauskaite

Aurika Vanckaviciene

Rasa Verkauskiene

Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia

青少年和年轻成人先天性肾上腺增生的骨矿物质密度决定因素

Background Functional constipation in children is a worldwide problem that impacts both children's gastrointestinal function and the quality of family life. The treatment of this condition often depends on parental involvement to administer rectal interventions to their children to stimulate defecation. However, adherence to rectal interventions is currently suboptimal. We sought to explore the factors that facilitate and hinder parents from adherence to rectal interventions. Methods A descriptive qualitative study was conducted involving semi-structured interviews with parents of infants and young children with functional constipation requiring rectal interventions from March to May 2023. The data were analyzed using content analysis. Results Fourteen parents participated in the study. Parents reported the main facilitators of adherence to prescribed rectal interventions as recognition of illness severity, support from family and friends, and medical resource support and e-health literacy. Parents reported the primary barriers as information barriers, family conflict, cognitive misalignment, and difficulties in accessing healthcare services. Conclusion Rectal interventions are often essential in managing constipation in young children, with parental compliance being crucial for effective treatment. Healthcare providers must consider the psychosocial aspects of parents’ perceptions, adhere to guidelines to standardize communication, and ensure comprehensive education to improve medication literacy.

Haiyan Shen

Li Zhang

Yu Zhang

Yan Huang

Banghong Xu

Mingming Yu

Facilitators and barriers of adherence to rectal interventions by parents of young children with functional constipation: a qualitative study

年轻儿童功能性便秘家长接受直肠干预的促进因素和障碍：一项定性研究

Background The exact mechanism of hyperammonemia is thought to be multifactorial, but is not yet fully understood. No studies have yet reported hyperammonemia combined with Fanconi syndrome caused by deferasirox. Case presentation A 10-year-old girl was admitted for vomiting and altered consciousness. Blood testing revealed hyperammonemia and normal liver and coagulation functions. During hospitalization, the patient also exhibited hyperchloremic metabolic acidosis, hypokalemia, hyponatremia, and hypophosphatemia. Additionally, urinalysis revealed glucose and protein levels clinically consistent with Fanconi syndrome. The patient had a history of severe beta-thalassemia and had received intermittent blood transfusions for approximately ten years. The patient had been administered oral deferasirox at a 400 mg/day dose at the age of four, which had been gradually increased to the current 750 mg/day dosage. Upon admission, deferasirox was discontinued and treatment including mechanical ventilation, continuous blood purification therapy for ammonia reduction and acidosis, and electrolyte imbalance corrections was administered. Subsequently, serological markers returned to normal, urine test findings improved. To the best of our knowledge, this is the first report of a case of hyperammonemia with Fanconi syndrome owing to deferasirox. Conclusions For effective management and long-term follow-up of chronic diseases in children, pediatricians must master standardized treatments and the adverse reactions of various drugs. When symptoms are difficult to explain clinically, we must trace the source and adjust the treatment plan to maximize improving the patient's prognosis.

Houfu Zhou

Daoxue Xiong

Yan Feng

Jianyu Jiang

Deferasirox-induced hyperammonemia and Fanconi syndrome: a case report

去铁斯若引起的血氨升高和范可尼综合征：一例报告

FRONTIERS IN PEDIATRICS（影响因子 2.33）在该领域广泛发表经过严格同行评审的研究，从基础研究到临床研究，应对儿科患者护理和儿童健康方面的持续挑战。莱顿大学的现场主编 ARJAN TE PAS 和匹兹堡儿童医院的 MICHAEL L. MORITZ 得到了杰出的国际专家编辑委员会的支持。这本多学科的开放获取期刊处于传播和交流科学知识和对全球研究人员、学者、临床医生和公众产生影响的发现。《儿科学前沿》还设有研究主题、由客座副主编管理的以前沿为主题的特殊问题，解决儿科学的重要领域。以这种方式，前沿作为出版的渠道儿科在基础和临床研究中最广泛的方面，包括与儿科各个方面相关的高质量评论、病例报告、社论和评论。

Frontiers in Pediatrics (Impact Factor 2.33) is a journal that publishes rigorously peer-reviewed research across a wide range of topics, from basic science to clinical studies, addressing ongoing challenges in pediatric patient care and child health. The journal is led by Editor-in-Chief ARJAN TE PAS from Leiden University and MICHAEL L. MORITZ from the Children's Hospital of Pittsburgh, supported by an outstanding international editorial board. As a multidisciplinary open-access journal, Frontiers in Pediatrics aims to disseminate and communicate scientific knowledge, impacting researchers, scholars, clinicians, and the public worldwide. The journal also features research themes and special issues managed by guest associate editors, focusing on significant areas in pediatrics. In this way, Frontiers in Pediatrics serves as a publication channel for the broadest aspects of pediatric research, including high-quality reviews, case reports, editorials, and commentaries related to various aspects of pediatrics.

《Frontiers in Pediatrics》（影响因子 2.33）是一份广泛发表经过严格同行评审研究的期刊，涵盖从基础研究到临床研究，旨在应对儿科患者护理和儿童健康方面的持续挑战。该期刊由莱顿大学的主编 ARJAN TE PAS 和匹兹堡儿童医院的 MICHAEL L. MORITZ 领导，并得到杰出的国际专家编辑委员会的支持。作为一本多学科的开放获取期刊，《Frontiers in Pediatrics》致力于传播和交流科学知识，影响全球研究人员、学者、临床医生和公众。期刊还设有研究主题，由客座副主编管理的以前沿为主题的特殊问题，聚焦于儿科学的重要领域。通过这种方式，《Frontiers in Pediatrics》作为出版渠道，涵盖儿科基础和临床研究的广泛领域，包括与儿科各个方面相关的高质量评论、病例报告、社论和评论。

期刊	Frontiers in Pediatrics
ISSN	2296-2360
h-index	74
Journal Impact	2.12
国际分区	PEDIATRICS(Q2)
国内分区	医学(3区)医学儿科(3区)