Pediatric Investigation最新文献

{"title":"Corneal characteristics in children with Marfan syndrome with or without ectopia lentis.","authors":"Marisa O'Brien, Lawrence Tychsen","doi":"10.1002/ped4.70011","DOIUrl":"10.1002/ped4.70011","url":null,"abstract":"<p><strong>Importance: </strong>Myopia of Marfan syndrome (MFS) may be ascribed to crystalline lens subluxation, abnormal corneal curvature, and increased globe axial length. Few studies have reported these measures in MFS children who did or did not have ectopia lentis (EL).</p><p><strong>Objective: </strong>To measure eye findings longitudinally in MFS children with and without EL.</p><p><strong>Methods: </strong>A prospective, comparative case study was conducted on 24 MFS children (48 eyes). EL necessitated lensectomy and intraocular lens implantation surgery in 16/24 children (mean age 5.6 ± 2.8 years). The remaining 8/24 MFS children (mean age 11.2 ± 4.2 years) had no EL and were phakic. Follow-up was a mean of 3.1 ± 0.5 years. At follow-up visits, visual acuity, tonometry, refractive error, central corneal thickness (CCT), biomicroscopic examination, axial length, anterior chamber depth, endothelial cell density (ECD), and corneal curvature were monitored.</p><p><strong>Results: </strong>At the initial visit, before EL surgery, MFS children with EL had greater myopia (<i>P</i> < 0.01), corneal cylinder (<i>P</i> = 0.04), and CCT (<i>P</i> = 0.01) compared to children with no EL. Over the follow-up interval, EL children had a progressive increase in CCT (<i>P</i> = 0.02) and a reduction in ECD (<i>P</i> = 0.02). EL children also showed: progressive flattening of corneal curvature (<i>P</i> = 0.01); reduction of corneal cylinder (<i>P</i> = 0.02); and increase in axial length (<i>P</i> < 0.01). MFS children with no EL exhibited a smaller increase in CCT (<i>P</i> < 0.01) and a milder flattening of corneal curvature (<i>P</i> < 0.01). The no EL children showed no change in ECD (<i>P</i> = 0.09), corneal cylinder (<i>P</i> = 0.80), or axial length (<i>P</i> = 0.27).</p><p><strong>Interpretation: </strong>MFS children who have EL exhibit differences in corneal structure and axial length when compared to MFS children with no EL. Children with EL have thicker CCT, more corneal cylinder, lower ECD, and longer axial lengths compared to children with no EL. The differences imply that the fibrillin defect of MFS is more severe in children with EL. The ocular defect is manifested chiefly as zonular hyperextension but has effects also on corneal and scleral integrity.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"160-166"},"PeriodicalIF":1.9,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Instruction for Authors.","authors":"","doi":"10.1002/ped4.70007","DOIUrl":"https://doi.org/10.1002/ped4.70007","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 1","pages":"97-104"},"PeriodicalIF":1.9,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pre-symptomatic risdiplam treatment for spinal muscular atrophy initiated at 12 days post-birth: 14-month safety and developmental outcomes.","authors":"Zhihao Sun, Liping Wu, Yufan Hui, Yuhang Zhong, Jiangtao Yang, Zhiyong Sun, Xiaoling Huang, Hui Xiong","doi":"10.1002/ped4.70003","DOIUrl":"10.1002/ped4.70003","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"201-202"},"PeriodicalIF":1.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interpretation of expert consensus on the application of low-concentration atropine eye drops in the prevention and control of myopia in children and adolescents.","authors":"Li Li","doi":"10.1002/ped4.70002","DOIUrl":"10.1002/ped4.70002","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"107-113"},"PeriodicalIF":1.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of artificial intelligence in myopia prevention and control.","authors":"Nan Liu, Li Li, Jifeng Yu","doi":"10.1002/ped4.70001","DOIUrl":"10.1002/ped4.70001","url":null,"abstract":"<p><p>The global incidence of myopia is increasing, and high myopia increases the risk of pathological myopia, which can lead to irreversible visual impairment, posing a significant global health concern. Artificial intelligence (AI) may be a solution to the myopia pandemic, with potential applications in early identification, risk stratification, progression prediction, and timely intervention to address unmet needs. AI has been developed to detect, diagnose, and predict the progression of myopia in both children and adults. In this review, the current state of AI technology applications in the field of myopia has been comprehensively reviewed, and the challenges, current development status, and future directions of AI have also been discussed, which hold great significance for the further application of AI in myopia management.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"114-124"},"PeriodicalIF":1.9,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chinese guideline for the diagnosis and treatment of juvenile-onset recurrent respiratory papillomatosis (2024).","authors":"","doi":"10.1002/ped4.12464","DOIUrl":"https://doi.org/10.1002/ped4.12464","url":null,"abstract":"<p><p>The incidence of juvenile-onset recurrent respiratory papillomatosis (JORRP) varies worldwide, and the lack of well-adopted guidelines for use in China suggests that patients with JORRP do not receive optimal care. In America, where data is available, pediatric patients undergo an average of 4 surgeries annually and a total of >40 surgeries in their lifetimes primarily due to this condition. It is widely accepted that timely diagnosis and implementation of scientifically sound and effective interventions can prevent JORRP progression and mitigate serious complications. Notably, evidence-based guidelines to coordinate care are lacking, and there is a need to standardize clinical practice to improve outcomes for patients. The International Pediatric Otolaryngology Group (IPOG) issued guidelines in 2020 to improve care for patients with JORRP. However, this guideline was majorly tailored to the healthcare system in Europe and America, posing a challenge to its adoption in China. To this effect, we assembled a guideline development working group to formulate guidelines for the diagnosis and treatment of JORRP tailored to the Chinese context. The working group consisting of multidisciplinary experts with experience in managing patients with JORRP undertook qualitative and quantitative studies, conducted two rounds of Delphi consensus, and carried out multiple systematic reviews/meta-analyses to provide 24 key recommendations to 12 questions of clinical interest. We anticipate that healthcare workers, including primary care physicians and specialists managing JORRP, will find the guidelines useful, and their utilization will translate to improved outcomes for patients with the disease.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 1","pages":"12-34"},"PeriodicalIF":1.9,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness and safety of perampanel for pediatric patients with epilepsy: A real-world study from China.","authors":"Xiaohui Wang, Taoyun Ji, Maomao Liu, Xiaofei Wang, Zhixian Yang, Sanmei Wang, Liping Zou, Jiong Qin, Xiaotun Ren, Liankun Ren, Liri Jin, Jie Shi, Dantao Peng, Kui Chen, Jindong Dai, Nan Zhang, Jun Wang, Tianyu Song, Fang Fang, Yuehua Zhang, Qun Wang","doi":"10.1002/ped4.12463","DOIUrl":"10.1002/ped4.12463","url":null,"abstract":"<p><strong>Importance: </strong>Perampanel (PER) is used less extensively in children than in adults. Currently, there is a lack of data from PER clinical studies with large sample sizes in Chinese children and adolescents with epilepsy, especially those with refractory epilepsy.</p><p><strong>Objective: </strong>To evaluate the effectiveness, retention, and safety of PER in the treatment of children and adolescents with epilepsy in China.</p><p><strong>Methods: </strong>This was a multicenter, prospective, observational study. Children and adolescents with epilepsy who received PER as adjunctive therapy were included. The primary effectiveness endpoint was the proportion of patients achieving a ≥50% reduction in seizure frequency after 6 months of treatment compared to baseline. The secondary effectiveness endpoints included retention and seizure-free rates. The safety outcome was the incidence of treatment-emergent adverse events (TEAEs).</p><p><strong>Results: </strong>A total of 240 patients with epilepsy were enrolled in the study. Prior to initiating PER treatment, approximately 87.9% of them took two or more antiseizure medications. After a 6-month treatment regimen with PER, 70.4% of the patients experienced a reduced seizure frequency of at least 50%, and 22.1% achieved complete seizure freedom. The retention rate was 90.2%. TEAEs were reported by 89 patients, leading to the discontinuation of PER in seven cases. No severe TEAEs were observed in this study.</p><p><strong>Interpretation: </strong>Under routine clinical conditions, PER demonstrated good effectiveness and retention in Chinese children with epilepsy, particularly in those with refractory epilepsy.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"172-180"},"PeriodicalIF":1.9,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence-based guideline for the diagnosis and treatment of <i>Mycoplasma pneumoniae</i> pneumonia in children (2023).","authors":"","doi":"10.1002/ped4.12469","DOIUrl":"https://doi.org/10.1002/ped4.12469","url":null,"abstract":"<p><p><i>Mycoplasma pneumoniae</i> pneumonia (MPP) is the most common atypical pneumonia among children, with non-specific clinical manifestations. Despite various laboratory diagnostic methods, the diagnostic criteria remain inconsistent, potentially leading to missed or overdiagnosis. The incidence of severe and refractory cases of MPP is increasing, and there are issues with non-standard treatment in clinical practice. To standardize the diagnosis and treatment of MPP in Chinese children, the Subspecialty Group of Respiratory, the Society of Pediatrics, Chinese Medical Association, China National Clinical Research Center of Respiratory Diseases and the Editorial Board of <i>Chinese Journal of Pediatrics</i> jointly established a guideline expert group to formulate the \"Evidence-Based Guideline for the Diagnosis and Treatment of <i>Mycoplasma Pneumoniae</i> Pneumonia in Children (2023)\" based on both domestic and international research findings.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 1","pages":"1-11"},"PeriodicalIF":1.9,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retinoma: An overview.","authors":"Panagiotis N Toumasis, Ashwin Mallipatna, Timothy W Corson, Helen Dimaras","doi":"10.1002/ped4.12472","DOIUrl":"10.1002/ped4.12472","url":null,"abstract":"<p><p>Retinoma, also referred to as retinocytoma, is a benign manifestation of biallelic retinoblastoma gene (<i>RB1</i>) inactivation. Genetic or epigenetic loss of retinoblastoma protein in maturing cone precursors induces genomic instability which leads to upregulation of senescence-associated p16^INK4a and p130, resulting in non-proliferative retinoma. When senescence pathways fail and genetic instability accumulates to a critical level through altered gene copies of oncogenes and tumor suppression genes, transformation into <i>RB1</i> ^-/- retinoblastoma occurs. Thus, the management of retinoma involves frequent ophthalmic examination and imaging to monitor the size and characteristics of the tumor, ensure stability, and rule out malignant transformation. Key ophthalmoscopic features of retinoma often include a translucent whitish-gray retinal mass, calcification, retinal pigment epithelial alterations with well-defined margins, located typically around the lesion, as well as a zone of chorioretinal atrophy. This review aims to provide a comprehensive overview of this non-malignant tumor drawing from current understanding of its molecular genetics, clinical characteristics, diagnostic modalities, differential diagnosis, management, and prognosis. A deeper understanding of retinoma could offer valuable insights into how retinoblastoma develops and oncogenesis more broadly, paving the way for improved strategies to prevent and treat this malignant tumor.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"139-149"},"PeriodicalIF":1.9,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Outcomes of the intraoperative relaxed muscle positioning technique in strabismus surgery for thyroid eye disease.","authors":"Marina A Eisenberg, Elias I Traboulsi","doi":"10.1002/ped4.12467","DOIUrl":"10.1002/ped4.12467","url":null,"abstract":"<p><p>Thyroid eye disease (TED) can cause incomitant strabismus with muscle restriction, resulting in diplopia and patient discomfort and discontent. Surgical correction of TED-associated restrictive strabismus has been attempted, with fixed and adjustable suture success rates varying from 38% to 82%. This paper reviews five articles that explored the utility of the intraoperative relaxed muscle positioning (IRMP) technique in patients with restrictive strabismus due to TED. While IRMP is a useful technique for addressing TED-related strabismus and is effective in patients with incomitant strabismus, disease reactivation, staged and unplanned surgeries, combined horizontal and vertical deviations, and previous orbital decompression surgeries, it is probable that this approach can be utilized in children with restrictive types of strabismus. Therefore, further studies are required.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"9 2","pages":"133-138"},"PeriodicalIF":1.9,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}