Pediatric Investigation最新文献

{"title":"Novel <i>SLC30A2</i> mutations in the pathogenesis of transient neonatal zinc deficiency.","authors":"Taichiro Muto, Yuriko Kawase, Kaori Aiba, Miyuki Okuma, Naoya Itsumura, Shuangyu Luo, Namino Ogawa, Tokuji Tsuji, Taiho Kambe","doi":"10.1002/ped4.12366","DOIUrl":"10.1002/ped4.12366","url":null,"abstract":"<p><strong>Importance: </strong>Transient neonatal zinc deficiency (TNZD) occurs in breastfed infants due to abnormally low breast milk zinc levels. Mutations in the solute carrier family 30 member 2 (<i>SLC30A2</i>) gene, which encodes the zinc transporter ZNT2, cause low zinc concentration in breast milk.</p><p><strong>Objective: </strong>This study aimed to provide further insights into TNZD pathophysiology.</p><p><strong>Methods: </strong><i>SLC30A2</i> sequencing was performed in three unrelated Japanese mothers, whose infants developed TNZD due to low-zinc milk consumption. The effects of the identified mutations were examined using cell-based assays and luciferase reporter analysis.</p><p><strong>Results: </strong>Novel <i>SLC30A2</i> mutations were identified in each mother. One harbored a heterozygous missense mutation in the ZNT2 zinc-binding site, which resulted in defective zinc transport. The other two mothers exhibited multiple heterozygous mutations in the <i>SLC30A2</i> promoter, the first mutations in the <i>SLC30A2</i> regulatory region reported to date.</p><p><strong>Interpretation: </strong>This report provides new genetic insights into TNZD pathogenesis in breastfed infants.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"6-12"},"PeriodicalIF":1.9,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/ca/PED4-7-6.PMC10030689.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193159","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":"Interdisciplinary feeding clinic during the coronavirus disease 2019 pandemic: Implementing telehealth and social determinants of health screening.","authors":"Stephanie Harshman, Desiree Sierra-Velez, Kelly Daigle, Cheryl Hersh, Kristen Risley, Alexy D Arauz Boudreau, Sarah Matathia, Lauren Fiechtner, Meg Simione","doi":"10.1002/ped4.12365","DOIUrl":"10.1002/ped4.12365","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"43-48"},"PeriodicalIF":1.9,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/30/b5/PED4-7-43.PMC10030687.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9202818","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":"Can non-typeable <i>Haemophilus influenzae</i> carriage surveillance data infer antimicrobial resistance associated with otitis media?","authors":"Sophia Bowman-Derrick, Tegan M Harris, Jemima Beissbarth, Mariana Kleinecke, Katrina Lawrence, Teresa M Wozniak, Amy Bleakley, Angela Rumaseb, Michael J Binks, Robyn L Marsh, Peter S Morris, Amanda J Leach, Heidi Smith-Vaughan","doi":"10.1002/ped4.12364","DOIUrl":"10.1002/ped4.12364","url":null,"abstract":"<p><strong>Importance: </strong>In remote communities of the Northern Territory, Australia, children experience high rates of otitis media (OM), commonly caused by non-typeable <i>Haemophilus influenzae</i> (NTHi). Few data exist on antibiotic susceptibility of NTHi from OM.</p><p><strong>Objective: </strong>To determine whether population-level nasopharyngeal NTHi antibiotic susceptibility data could inform antibiotic treatment for OM.</p><p><strong>Methods: </strong>NTHi isolates (<i>n</i> = 92) collected from ear discharge between 2003 and 2013 were selected to time- and age-match NTHi isolates from the nasopharyngeal carriage (<i>n</i> = 95). Antimicrobial susceptibility were tested. Phylogenomic trees and a genome-wide association study (GWAS) were performed to determine the similarity of nasopharyngeal and ear isolates at a population level.</p><p><strong>Results: </strong>Among 174 NTHi isolates available for antimicrobial susceptibility testing, 10.3% (18/174) were resistant to ampicillin and 9.2% (16/174) were resistant to trimethoprim-sulfamethoxazole. Small numbers of isolates (≤3) were resistant to tetracycline, chloramphenicol, or amoxicillin-clavulanic acid. There was no statistical difference in the proportion of ampicillin-resistant (<i>P</i> = 0.11) or trimethoprim-sulfamethoxazole-resistant isolates (<i>P</i> = 0.70) between ear discharge and nasopharynx-derived NTHi isolates. Three multi-drug resistant NTHi isolates were identified. Phylogenomic trees showed no clustering of 187 <i>Haemophilus influenzae</i> isolates based on anatomical niche (nasopharynx or ear discharge), and no genetic variations that distinguished NTHi derived from ear discharge and nasopharyngeal carriage were evident in the GWAS.</p><p><strong>Interpretation: </strong>In this population-level study, nasopharyngeal and ear discharge isolates did not represent distinct microbial populations. These results support tracking of population-level nasopharyngeal NTHi antibiotic resistance patterns to inform clinical management of OM in this population.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"13-22"},"PeriodicalIF":1.9,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/38/ec/PED4-7-13.PMC10030701.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193161","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":"Tubulointerstitial nephritis and uveitis syndrome post-COVID-19.","authors":"Maria Cristina Maggio, Filippo Collura, Maria Michela D'Alessandro, Barbara Gramaglia, Giovanni Corsello","doi":"10.1002/ped4.12362","DOIUrl":"10.1002/ped4.12362","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"57-59"},"PeriodicalIF":1.9,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/38/cf/PED4-7-57.PMC10030691.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9188396","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":"Better design leads to better results - Importance of virological outcome design in clinical trials for antiviral treatment of coronavirus disease 2019.","authors":"Getu Zhaori, Lu Lu, Chunyan Liu, Shujing Han, Yongli Guo","doi":"10.1002/ped4.12363","DOIUrl":"10.1002/ped4.12363","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"1-5"},"PeriodicalIF":1.9,"publicationDate":"2023-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c3/61/PED4-7-1.PMC10030700.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193157","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":"Sifrim-Hitz-Weiss/CHD4-related syndrome: A new case report.","authors":"Beibei Zhang, Ming Cheng, Lijun Fan, Chunxiu Gong","doi":"10.1002/ped4.12357","DOIUrl":"10.1002/ped4.12357","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 2","pages":"137-139"},"PeriodicalIF":1.9,"publicationDate":"2023-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0b/35/PED4-7-137.PMC10262901.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10012043","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":"Spontaneous regression of tumor in a girl with optic pathway glioma with diencephalic syndrome.","authors":"Rutao Luo, Tianlei Zhang, Wei Yang, Yuanqi Ji, Hailang Sun, Dapeng Li, Ming Ge","doi":"10.1002/ped4.12356","DOIUrl":"10.1002/ped4.12356","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"60-62"},"PeriodicalIF":1.9,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fb/1c/PED4-7-60.PMC10030698.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9188402","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":"Changes in utilization of online pediatric educational resources during the coronavirus disease 2019 pandemic.","authors":"Dennis Daniel, Anna Krotinger, Traci Wolbrink","doi":"10.1002/ped4.12360","DOIUrl":"10.1002/ped4.12360","url":null,"abstract":"<p><p>The COVID-19 global pandemic disrupted healthcare, society, and medical education. Use of online video educational content increased at the onset of the COVID-19 pandemic, across two platforms. This demonstrates the potential of online videos to provide timely information in a scalable fashion, quickly meeting clinical information needs.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"49-53"},"PeriodicalIF":1.9,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/0a/PED4-7-49.PMC10030686.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193160","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":"Long-acting growth hormone in 2022.","authors":"Margaret Steiner,&nbsp;Jacklyn Frank,&nbsp;Paul Saenger","doi":"10.1002/ped4.12358","DOIUrl":"10.1002/ped4.12358","url":null,"abstract":"<p><p>After the isolation of pituitary growth hormone (GH) in 1957, this form of GH, always in limited supply, was the only drug available for the treatment of GH deficiency. In 1985, recombinant GH became available, and the modalities of GH therapies changed dramatically as the supply was unlimited. New indications for GH in pediatrics and adult medicine were developed. Treatment was daily. Now in 2021 long-acting GH (LAGH) became available the world over making GH therapy more patient-friendly and even showing slightly greater efficacy than daily GH therapy. We are now entering a new era of LAGH therapy for pediatric and adult use with new formulations of GH, which will predictably be the preferred form of GH therapy for years to come increasing adherence to GH therapy and possibly even efficacy, that is, better growth rate. The continued availability of new safety data will further solidify the use of LAGH in clinical medicine.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"7 1","pages":"36-42"},"PeriodicalIF":2.2,"publicationDate":"2023-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/42/41/PED4-7-36.PMC10030690.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193162","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":"Phenomapping approach to interpreting coronary dimensions in febrile children.","authors":"Haoxun Tang, Xin Guo, Xiaolu Nie, Lin Zheng, Gang Liu, Wilfred Hing-Sang Wong, Yiu-Fai Cheung","doi":"10.1002/ped4.12361","DOIUrl":"10.1002/ped4.12361","url":null,"abstract":"<p><strong>Importance: </strong>Coronary artery dilation may occur in febrile children with and without Kawasaki disease (KD).</p><p><strong>Objective: </strong>We explored the application of unsupervised learning algorithms in the detection of novel patterns of coronary artery phenotypes in febrile children with and without KD.</p><p><strong>Methods: </strong>A total of 239 febrile children (59 non-KD and 180 KD patients), were recruited. Unsupervised hierarchical clustering analysis of phenotypic data including age, hemoglobin, white cell count, platelet count, C-reactive protein, erythrocyte sedimentation rate, albumin, alanine aminotransferase, aspartate aminotransferase, and coronary artery <i>z</i> scores were performed.</p><p><strong>Results: </strong>Using a cutoff <i>z</i> score of 2.5, the specificity was 98.3% and the sensitivity was 22.1% for differentiating non-KD from KD patients. Clustering analysis identified three phenogroups that differed in a clinical, laboratory, and echocardiographic parameters. Compared with phenogroup I, phenogroup III had the highest prevalence of KD (91%), worse inflammatory markers, more deranged liver function, higher coronary artery <i>z</i> scores, and lower hematocrit and albumin levels. Abnormal blood parameters in febrile children with <i>z</i> scores of coronary artery segments <0.5 and 0.5-1.5 was associated with increased risks of having KD to 8.7 (<i>P</i> = 0.003) and 4.4 (<i>P</i> = 0.002), respectively.</p><p><strong>Interpretation: </strong>Phenomapping of febrile children with and without KD identified useful laboratory parameters that aid the diagnosis of KD in febrile children with relatively normal-sized coronary arteries.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":"6 4","pages":"233-240"},"PeriodicalIF":1.9,"publicationDate":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/51/3b/PED4-6-233.PMC9789931.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10459472","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}