Pediatrics International最新文献_第5页

Early diagnosis of chronic granulomatous disease and McLeod syndrome via the use of a next generation sequencing. 早期诊断慢性肉芽肿病和麦克劳德综合征通过使用下一代测序。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70108

Atsushi Miyake, Kenji Gotoh, Saho Shima, Kiyohito Okumiya, Ryuta Nishikomori, Tatsuki Mizuochi

引用次数: 0

Behavioral problems in adolescents and young adults with neurodevelopmental disorders. 青少年和年轻成人神经发育障碍的行为问题。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70115

Yasumichi Kuwahara, Maina Yonezawa, Hiroaki Miya, Masaharu Moroto, Tomoko Iehara

{"title":"Behavioral problems in adolescents and young adults with neurodevelopmental disorders.","authors":"Yasumichi Kuwahara, Maina Yonezawa, Hiroaki Miya, Masaharu Moroto, Tomoko Iehara","doi":"10.1111/ped.70115","DOIUrl":"https://doi.org/10.1111/ped.70115","url":null,"abstract":"Background: The increasing prevalence of neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), in children has led to concerns about waiting times for medical evaluation. Thus, Fukuchiyama City Hospital jointly established an ambulatory clinic for children with developmental disorders with the city government in 2010. This study aims to investigate behavioral challenges among patients aged 15 years and older attending the developmental outpatient clinic, particularly those diagnosed with ASD, to highlight challenges related to medical and social treatments.Methods: The study examined patients aged 15 years and older diagnosed with NDD who visited the outpatient clinic for developmental disorders at Fukuchiyama City Hospital from January to December 2023. It collected data on demographics, duration of outpatient visits, diagnoses, current communication skills, and behavioral problems from medical records.Results: Out of 68 patients, 45 were diagnosed with ASD. Communication difficulties were prevalent, with 31.1% lacking significant verbal communication skills. Behavioral problems included behavioral deviance, inattention, hyperactivity, impulsivity, harmful behavior toward others, and self-injury. Low levels of developmental quotient (DQ) were associated with maladaptive behaviors, but harmful behaviors were independent of IQ/DQ.Conclusions: The study highlights the behavioral problems in adolescents and young adult patients with ASD attending developmental clinics. Early and appropriate interventions, such as applied behavior analysis, are critical for addressing these challenging behaviors, especially harmful ones. The support of family and caregivers based on behavior analysis is necessary for enhancing the outcomes and quality of life of individuals with NDD.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70115"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Differences in arteriovenous carboxyhemoglobin in neonates with noninflammatory pulmonary diseases. 新生儿非炎症性肺病动静脉碳氧血红蛋白的差异。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70117

Toshihiko Nakamura, Daisuke Hatanaka, Eisuke Fukama

{"title":"Differences in arteriovenous carboxyhemoglobin in neonates with noninflammatory pulmonary diseases.","authors":"Toshihiko Nakamura, Daisuke Hatanaka, Eisuke Fukama","doi":"10.1111/ped.70117","DOIUrl":"https://doi.org/10.1111/ped.70117","url":null,"abstract":"Background: To retrospectively examine whether differences in arteriovenous carboxyhemoglobin (a-vCOHb) can be used as a marker for evaluating the severity of neonatal lung disease that develops soon after birth.Methods: The subjects were 129 newborn neonates who were classified into three groups comprising 48 infants with severe respiratory disorder (group S), 46 with mild-to-moderate respiratory disorder (group M), and 35 in a control group without respiratory disorder (group C). Various parameters including COHb were measured using a blood gas analyzer/oximeter at the time of admission, with sampling of arteries and veins performed at short intervals (within 30 min).Results: The arterial COHb values were significantly higher in group C than in group S. The a-vCOHb values were significantly higher in groups C and M than in group S. This suggested that a loss of carbon monoxide excretion due to the generation of shunt blood with lung collapse at the alveolar level and a decrease in the total amount of carbon monoxide generated within the lungs resulted in the decrease of a-vCOHb values in group S. Receiver operating characteristic curve analysis of a-vCOHb for predicting the need for respiratory support identified an a-vCOHb cut-off value of 0.3% with a sensitivity of 75% and specificity of 74% (p < 0.001).Conclusion: An a-vCOHb cut-off value of 0.3% may be useful in determining the severity of lung disease in the early neonatal period.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70117"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144326551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity. 基于TREC和krecs的新生儿严重先天性免疫错误的高通量筛查

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.15872

Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai

{"title":"A high-throughput TREC- and KREC-based newborn screening for severe inborn errors of immunity.","authors":"Haruka Hiroki, Kunihiko Moriya, Toru Uchiyama, Fumi Hirose, Akifumi Endo, Iori Sato, Yasuhiro Tomaru, Kazumi Sawakami, Norio Shimizu, Hidenori Ohnishi, Tomohiro Morio, Kohsuke Imai","doi":"10.1111/ped.15872","DOIUrl":"10.1111/ped.15872","url":null,"abstract":"Introduction: Severe combined immunodeficiency (SCID) due to T-cell deficiency is the most severe form of inborn error of immunity (IEI). It frequently leads to severe and recurrent infections and the first infection or live vaccines can sometimes be fatal. Patients with B-cell deficiency (BCD), such as X-linked agammaglobulinaemia (XLA), also suffer from severe or recurrent infections. Thus, early diagnosis via newborn screening (NBS) is suitable for these types of diseases. We developed a lyophylized TaqMan-based quantitative polymerase chain reaction (qPCR) kit with primers and probes for the simultaneous detection of T-cell receptor excision circles (TREC) and κ-deleting recombination excision circles (KREC). We also developed a fully automated DNA extraction and purification process using Magtration technology from dried blood spots (DBS), enabling high-throughput analysis METHODS: We examined 15,258 stored DBS collected from 2014 to 2015 by this method. Newborn screening samples from children with a known SCID, XLA or ataxia-telangiectasia (AT) were also examined as positive controls.Results: RPPH1 (internal control), TREC, and KREC all had near-normal distributions. One specimen was below the cut-off for TREC (0.00657%) after exclusion of 36 specimens due to the failure of DNA extraction (0.23%). The TREC levels in the patients with AT and SCID, and KREC levels in the patients with AT and XLA were all below cut-off or absent.Conclusions: This assay would allow the establishment of qPCR-based NBS in unfamiliar laboratories leading to the early diagnosis of SCID and BCD.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e15872"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Successful endoscopic decompression and detorsion of splenic flexure volvulus in a child with multimorbidity. 多病患儿脾屈曲成功的内镜减压和变形治疗。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70152

Tsubasa Terakado, Atsushi Morita, Kazuo Imagawa, Kazuki Shirane, Takahiro Jimbo, Kouji Masumoto, Hidetoshi Takada

引用次数: 0

Adolescence and secondary syphilis-Macular rash and condyloma lata as first signs. 青春期和继发性梅毒-黄斑疹和尖锐湿疣为首发症状。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70095

Rita Vilar Queirós, Carolina Jesus E Sá, Mafalda Matias, Catarina Martins Serra

引用次数: 0

Efficacy of walking as a potential strategy to treat childhood obesity in the clinical setting. 在临床环境中，步行作为治疗儿童肥胖的潜在策略的有效性。

IF 1 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70120

Kiwako Miura, Yumiko Ninomiya, Sachie Sakimukai, Yoshiya Ito, Masao Yoshinaga

{"title":"Efficacy of walking as a potential strategy to treat childhood obesity in the clinical setting.","authors":"Kiwako Miura, Yumiko Ninomiya, Sachie Sakimukai, Yoshiya Ito, Masao Yoshinaga","doi":"10.1111/ped.70120","DOIUrl":"10.1111/ped.70120","url":null,"abstract":"Background: Walking is a common intervention for treating obesity in adults, but data on the effectiveness of walking for childhood obesity are limited. We therefore investigated the effectiveness of walking in the treatment of childhood obesity and the factors that make its effect stronger.Methods: Participants who visited our clinic for obesity were instructed to walk at least 10,000 steps on holidays and given lifestyle guidance at the first visit. CV risk factors and blood chemistry were examined at every visit. The number of steps walked on holidays between each visit was also assessed. We defined successful treatment as a final decrease in relative body weight (RBW) of ≥8.6% in this study. The predictors of final RBW reduction and factors of dropout were examined with a focus on the number of holiday steps.Results: The final number of participants was 131 (74 boys and 57 girls; mean age 10.1 ± 2.4 years). The mean reduction in RBW was 14.7 ± 12.8% (p < 0.001). Predictors of final RBW reduction were the level of RBW reduction from the first to the second visits (p = 0.01) and the mean number of steps on holiday between the second and the third visits (p = 0.04). Fewer steps on holiday between the first and the second visits were a predictor of dropout (p = 0.03).Conclusions: This study confirmed the effectiveness of lifestyle modification, particularly walking. Furthermore, the establishment of walking habits and reduction in RBW early in the treatment were found to be important.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70120"},"PeriodicalIF":1.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12135126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216572","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}

引用次数: 0

Best Reviewers Awards for 2024. 2024年最佳评论家奖。

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70193

引用次数: 0

Effect of anti-IgE antibody, omalizumab, for refractory chronic spontaneous urticaria in an 8-year-old girl. 抗ige抗体omalizumab治疗1例8岁女童难治性慢性自发性荨麻疹的疗效

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70180

Yuichi Adachi, Hiroko Hirai, Shinichi Tsubata, Sachiko Nakaoka, Takuya Wada

引用次数: 0

Plasma amino acid profiles in children with CAKUT-related renal scarring: Metabolic and biomarker insights. 与cakut相关的肾脏瘢痕形成的儿童血浆氨基酸谱：代谢和生物标志物见解。

IF 0.9 4区医学

Pediatrics International Pub Date : 2025-01-01 DOI: 10.1111/ped.70168

Aylin Gençler, İsmail Koyuncu

{"title":"Plasma amino acid profiles in children with CAKUT-related renal scarring: Metabolic and biomarker insights.","authors":"Aylin Gençler, İsmail Koyuncu","doi":"10.1111/ped.70168","DOIUrl":"https://doi.org/10.1111/ped.70168","url":null,"abstract":"Objectives: Chronic kidney disease in children, often caused by congenital anomalies of the kidney and urinary tract (CAKUT), can lead to progressive renal scarring and dysfunction. Given the kidneys' role in amino acid homeostasis, plasma amino acid levels may be associated with renal scarring. This study investigates the relationship between plasma amino acid levels and renal scarring in children with CAKUT.Methods: This cross-sectional study consisted of children aged between 1 month and 18 years who were diagnosed with CAKUT between January 2019 and December 2023. The patients were divided into two groups: Group RS (renal scarring, n = 33) and Group NS (no scarring, n = 32), according to the results of the dimercaptosuccinic acid (DMSA) scan. The groups were compared in terms of plasma amino acid levels and the differences in the plasma amino acid levels between the groups.Results: The median age of the study sample, which consisted of 65 children, 49.2% female and 50.8% male, was 6 [0.1-18.0] years. The plasma levels of essential amino acids, including isoleucine, leucine, lysine, methionine, phenylalanine, threonine, and valine, as well as non-essential amino acids such as alanine, asparagine, and serine, were significantly higher in Group RS than in Group NS.Conclusions: The significant changes seen in the plasma amino acid profiles of children with CAKUT, especially the essential amino acid profiles, suggest a potential link between impaired amino acid metabolism and renal scarring in children with CAKUT.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"67 1","pages":"e70168"},"PeriodicalIF":0.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0