Pub Date : 2022-11-05eCollection Date: 2022-12-01DOI: 10.1002/ped4.12352
Yumeng Gao, Hongfang Jin, Junbao Du
{"title":"Sitting intolerance: A new disease entity in children and adolescents.","authors":"Yumeng Gao, Hongfang Jin, Junbao Du","doi":"10.1002/ped4.12352","DOIUrl":"10.1002/ped4.12352","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/bd/PED4-6-299.PMC9789932.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10821626","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}
Pub Date : 2022-10-24eCollection Date: 2022-12-01DOI: 10.1002/ped4.12343
Si Ding, Lianshu Han
Newborn screening (NBS) is a public health service aimed at identifying infants with severe genetic disorders, thus providing effective treatment early enough to prevent or ameliorate the onset of symptoms. Current NBS uses biochemical analysis of dried blood spots, predominately with time-resolved fluorescence immunoassay and tandem mass spectrometry, which produces some false positives and false negatives. The application of enzymatic activity-based testing technology provides a reliable screening method for some disorders. Genetic testing is now commonly used for secondary or confirmatory testing after a positive result in some NBS programs. Recently, next-generation sequencing (NGS) has emerged as a robust tool that enables large panels of genes to be scanned together rapidly. Rapid advances in NGS emphasize the potential for genomic sequencing to improve NBS programs. However, some challenges still remain and require solution before this is applied for population screening.
{"title":"Newborn screening for genetic disorders: Current status and prospects for the future.","authors":"Si Ding, Lianshu Han","doi":"10.1002/ped4.12343","DOIUrl":"10.1002/ped4.12343","url":null,"abstract":"<p><p>Newborn screening (NBS) is a public health service aimed at identifying infants with severe genetic disorders, thus providing effective treatment early enough to prevent or ameliorate the onset of symptoms. Current NBS uses biochemical analysis of dried blood spots, predominately with time-resolved fluorescence immunoassay and tandem mass spectrometry, which produces some false positives and false negatives. The application of enzymatic activity-based testing technology provides a reliable screening method for some disorders. Genetic testing is now commonly used for secondary or confirmatory testing after a positive result in some NBS programs. Recently, next-generation sequencing (NGS) has emerged as a robust tool that enables large panels of genes to be scanned together rapidly. Rapid advances in NGS emphasize the potential for genomic sequencing to improve NBS programs. However, some challenges still remain and require solution before this is applied for population screening.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d1/58/PED4-6-291.PMC9789938.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10455182","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}
Pub Date : 2022-10-23eCollection Date: 2022-12-01DOI: 10.1002/ped4.12348
Mohammed Hamzah, Hasan F Othman, Krystel Chedid, Mohammed Alsabri, Ibrahim Qattea, Hany Aly
Using the US National Inpatient Sample dataset (2010 to 2018), we compared outcomes of neonates with Tetralogy of Fallot who had early primary surgical repair (1726 neonate) and those who had staged palliative intervention with transcatheter (1702 neonate) or surgical palliative shunt (2661 neonate).
{"title":"Outcomes of complete surgical repair versus palliative intervention in neonates with Tetralogy of Fallot.","authors":"Mohammed Hamzah, Hasan F Othman, Krystel Chedid, Mohammed Alsabri, Ibrahim Qattea, Hany Aly","doi":"10.1002/ped4.12348","DOIUrl":"10.1002/ped4.12348","url":null,"abstract":"<p><p>Using the US National Inpatient Sample dataset (2010 to 2018), we compared outcomes of neonates with Tetralogy of Fallot who had early primary surgical repair (1726 neonate) and those who had staged palliative intervention with transcatheter (1702 neonate) or surgical palliative shunt (2661 neonate).</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/ff/PED4-6-260.PMC9789930.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10821623","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}
Pub Date : 2022-09-22eCollection Date: 2022-09-01DOI: 10.1002/ped4.12349
Kaihu Yao
{"title":"The diversity of clinical manifestations of human monkeypox should be emphasized in practice.","authors":"Kaihu Yao","doi":"10.1002/ped4.12349","DOIUrl":"10.1002/ped4.12349","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/72/25/PED4-6-224.PMC9523799.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33491960","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}
Pub Date : 2022-09-08eCollection Date: 2022-09-01DOI: 10.1002/ped4.12345
Thomas Patrick Bowman, Ashutosh Deshpande, Alison Balfour, Kathleen Harvey-Wood
Importance: Staphylococcus lugdunensis (S. lugdunensis) is a coagulase-negative staphylococcus (CoNS), found commonly as skin flora in humans. While most species of CoNS are clinically benign, S. lugdunensis can exhibit a similar virulence to that of S. aureus. However, there is scant data concerning S. lugdunensis infection in the pediatric population.
Objective: To ascertain local S. lugdunensis infection rates and sensitivity patterns in the pediatric population.
Methods: A retrospective analysis was undertaken of all S. lugdunensis isolates across a 6-year period from 2015 to 2020. Data were collected from electronic patient notes and laboratory records. Matrix-assisted laser desorption ionization and time of flight mass spectrometry were used to identify isolates.
Results: Ninety-six isolates of S. lugdunensis were identified from 86 patients. Of these, 34 isolates were treated as an infection. Twenty-three (67.6%) were found to have skin as the primary source of infection. While the observed number was small, central nervous system (CNS) sources of S. lugdunensis infection appear to be a significant source: all three isolates cultured from cerebrospinal fluid were clinically managed as infection. All three were associated with ventriculoperitoneal (VP) shunt infection. No cases of S. lugdunensis infective endocarditis were identified. About 18.6% of S. lugdunensis isolates were resistant to flucloxacillin.
Interpretation: S. lugdunensis is an uncommon but significant cause of infection in the pediatric population and appears to be a rising cause of CNS infection, particularly when associated with VP shunts. Flucloxacillin is recommended locally as the first choice of antibiotic.
重要性:卢格杜恩葡萄球菌(S. lugdunensis)是一种凝固酶阴性葡萄球菌(CoNS),常见于人类皮肤菌群。虽然大多数 CoNS 菌种在临床上都是良性的,但卢格杜氏菌的毒力与金黄色葡萄球菌相似。然而,有关 S. lugdunensis 在儿科人群中感染的数据却很少:目的:确定当地儿科人群中 S. lugdunensis 的感染率和敏感性模式:方法:对 2015 年至 2020 年的 6 年间所有 S. lugdunensis 分离物进行回顾性分析。数据来自电子病历和实验室记录。基质辅助激光解吸电离和飞行时间质谱法用于鉴定分离物:结果:从 86 名患者中鉴定出 96 例卢格登氏菌分离株。结果:从 86 名患者中鉴定出 96 个卢格杜氏菌分离株,其中 34 个分离株被视为感染。其中 23 例(67.6%)的主要感染源是皮肤。虽然观察到的数量很少,但中枢神经系统(CNS)似乎是卢格杜恩氏菌感染的一个重要来源:从脑脊液中培养出的所有三个分离株都被作为感染进行了临床处理。这三个病例都与脑室腹腔分流术(VP)感染有关。没有发现 S. lugdunensis 感染性心内膜炎病例。约18.6%的卢格杜恩氏菌分离株对氟氯西林耐药:释义:卢格登氏菌在儿科人群中并不常见,但却是重要的感染病因,而且似乎是中枢神经系统感染的一个新病因,尤其是在与VP分流术相关的情况下。建议当地将氟氯西林作为首选抗生素。
{"title":"<i>Staphylococcus lugdunensis</i> in children: A retrospective analysis.","authors":"Thomas Patrick Bowman, Ashutosh Deshpande, Alison Balfour, Kathleen Harvey-Wood","doi":"10.1002/ped4.12345","DOIUrl":"10.1002/ped4.12345","url":null,"abstract":"<p><strong>Importance: </strong><i>Staphylococcus lugdunensis</i> (<i>S. lugdunensis</i>) is a coagulase-negative staphylococcus (CoNS), found commonly as skin flora in humans. While most species of CoNS are clinically benign, <i>S. lugdunensis</i> can exhibit a similar virulence to that of <i>S. aureus</i>. However, there is scant data concerning <i>S. lugdunensis</i> infection in the pediatric population.</p><p><strong>Objective: </strong>To ascertain local <i>S. lugdunensis</i> infection rates and sensitivity patterns in the pediatric population.</p><p><strong>Methods: </strong>A retrospective analysis was undertaken of all <i>S. lugdunensis</i> isolates across a 6-year period from 2015 to 2020. Data were collected from electronic patient notes and laboratory records. Matrix-assisted laser desorption ionization and time of flight mass spectrometry were used to identify isolates.</p><p><strong>Results: </strong>Ninety-six isolates of <i>S. lugdunensis</i> were identified from 86 patients. Of these, 34 isolates were treated as an infection. Twenty-three (67.6%) were found to have skin as the primary source of infection. While the observed number was small, central nervous system (CNS) sources of <i>S. lugdunensis</i> infection appear to be a significant source: all three isolates cultured from cerebrospinal fluid were clinically managed as infection. All three were associated with ventriculoperitoneal (VP) shunt infection. No cases of <i>S. lugdunensis</i> infective endocarditis were identified. About 18.6% of <i>S. lugdunensis</i> isolates were resistant to flucloxacillin.</p><p><strong>Interpretation: </strong><i>S. lugdunensis</i> is an uncommon but significant cause of infection in the pediatric population and appears to be a rising cause of CNS infection, particularly when associated with VP shunts. Flucloxacillin is recommended locally as the first choice of antibiotic.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/54/f6/PED4-6-163.PMC9523813.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33491954","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}
Pub Date : 2022-09-05eCollection Date: 2022-09-01DOI: 10.1002/ped4.12342
Ping Chu, Jin Shi, Fang Dong, Hui Yang, Shunying Zhao, Gang Liu, Huyong Zheng, Jinrong Liu, Huimin Li, Jie Lu
Importance: Bacteremia tuberculosis (TB) is a severe form of extrapulmonary TB. Studies assessing bacteremia TB in children are limited, especially for HIV-negative children.
Objective: To explore the detailed clinical features of the bacteremia TB in children under 18 years of age.
Methods: We reviewed the clinical records of the patients retrospectively and collected the strains isolated from their blood cultures. We used mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) to characterize the bacterial genotypes and alamarBlue to determine their drug susceptibility profiles. Polymerase chain reactions and DNA sequencing were used to identify drug-resistant mutations.
Results: There were 13 pediatric bacteremia TB patients, 10 of whom were diagnosed with Bacillus Calmette-Guérin (BCG) bacteremia TB. Thirteen patients aged from 0.30 to 11.58 years were enrolled, of whom 76.92% were boys. All had fevers before hospitalization, and 76.92% had respiratory symptoms. All had received BCG vaccinations, and 46.15% had adverse post-vaccination reactions. Compared with Mycobacterium tuberculosis, BCG bacteremia was more likely to appear in younger children. Patients with BCG bacteremia had primary immunodeficiency diseases, and lower CD4, IgA, and IgE levels.
Interpretation: Bacteremia TB was rapidly fatal in a large proportion of the immunodeficient children. Because classic findings may not be diagnostically specific, a high level of clinical suspicion is required, especially for patients with certain types of immunosuppression. Studies are needed to develop rapid diagnostic tests and to determine the value of empirical therapy in childhood bacteremia TB.
重要性:菌血症结核病(TB)是肺外结核病的一种严重形式。评估儿童菌血症结核病的研究非常有限,尤其是针对 HIV 阴性儿童的研究:探讨 18 岁以下儿童菌血症肺结核的详细临床特征:我们回顾性地查看了患者的临床记录,并收集了从其血液培养中分离出的菌株。我们使用分枝杆菌穿插重复单位变异数串联重复序列(MIRU-VNTR)来描述细菌基因型,并使用阿拉玛蓝(alamarBlue)来确定细菌对药物的敏感性。聚合酶链式反应和 DNA 测序用于确定耐药性突变:结果:共有 13 名儿童菌血症肺结核患者,其中 10 人被诊断为卡介苗(BCG)菌血症肺结核。13名患者的年龄在0.30至11.58岁之间,其中76.92%为男孩。所有患者入院前均发烧,76.92%的患者有呼吸道症状。所有患者都接种过卡介苗,46.15%的患者在接种后出现不良反应。与结核分枝杆菌相比,卡介苗菌血症更容易出现在年龄较小的儿童身上。卡介苗菌血症患者患有原发性免疫缺陷疾病,CD4、IgA和IgE水平较低:在很大一部分免疫缺陷儿童中,结核菌血症会迅速致命。由于典型的发现可能不具有诊断特异性,因此临床上需要高度怀疑,尤其是对患有某些类型免疫抑制的患者。需要进行研究以开发快速诊断测试,并确定儿童菌血症结核病经验疗法的价值。
{"title":"Bacteremia tuberculosis among HIV-negative children in China.","authors":"Ping Chu, Jin Shi, Fang Dong, Hui Yang, Shunying Zhao, Gang Liu, Huyong Zheng, Jinrong Liu, Huimin Li, Jie Lu","doi":"10.1002/ped4.12342","DOIUrl":"10.1002/ped4.12342","url":null,"abstract":"<p><strong>Importance: </strong>Bacteremia tuberculosis (TB) is a severe form of extrapulmonary TB. Studies assessing bacteremia TB in children are limited, especially for HIV-negative children.</p><p><strong>Objective: </strong>To explore the detailed clinical features of the bacteremia TB in children under 18 years of age.</p><p><strong>Methods: </strong>We reviewed the clinical records of the patients retrospectively and collected the strains isolated from their blood cultures. We used mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) to characterize the bacterial genotypes and alamarBlue to determine their drug susceptibility profiles. Polymerase chain reactions and DNA sequencing were used to identify drug-resistant mutations.</p><p><strong>Results: </strong>There were 13 pediatric bacteremia TB patients, 10 of whom were diagnosed with Bacillus Calmette-Guérin (BCG) bacteremia TB. Thirteen patients aged from 0.30 to 11.58 years were enrolled, of whom 76.92% were boys. All had fevers before hospitalization, and 76.92% had respiratory symptoms. All had received BCG vaccinations, and 46.15% had adverse post-vaccination reactions. Compared with <i>Mycobacterium tuberculosis</i>, BCG bacteremia was more likely to appear in younger children. Patients with BCG bacteremia had primary immunodeficiency diseases, and lower CD4, IgA, and IgE levels.</p><p><strong>Interpretation: </strong>Bacteremia TB was rapidly fatal in a large proportion of the immunodeficient children. Because classic findings may not be diagnostically specific, a high level of clinical suspicion is required, especially for patients with certain types of immunosuppression. Studies are needed to develop rapid diagnostic tests and to determine the value of empirical therapy in childhood bacteremia TB.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/03/f9/PED4-6-197.PMC9523815.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33492386","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}
Pub Date : 2022-08-24eCollection Date: 2022-09-01DOI: 10.1002/ped4.12344
Michelle Fernandes, Lucinda Winckworth, Lyrille Lee, Madiha Akram, Simon Struthers
Importance: Effective screening strategies for early-onset neonatal sepsis (EONS) have the potential to reduce high volume parenteral antibiotics (PAb) usage in neonates.
Objective: To compare management decisions for EONS, between CG149 National Institute for Health and Care Excellence (NICE) guidelines and those projected through the virtual application of the Kaiser Permanente sepsis risk calculator (SRC) in a level 2 neonatal unit at a district general hospital (DGH).
Methods: Hospital records were reviewed for maternal and neonatal risk factors for EONS, neonatal clinical examination findings, and microbial culture results for all neonates born at ≥34 weeks' gestation between February and July 2019, who were (1) managed according to CG149-NICE guidelines or (2) received PAb within 72 h following birth at a DGH in Winchester, UK. SRC projections were obtained using its virtual risk estimator.
Results: Sixty infants received PAb within the first 72 h of birth during the study period. Of these, 19 (31.7%) met SRC criteria for antibiotics; 20 (33.3%) met the criteria for enhanced observations and none had culture-proven sepsis. Based on SRC projections, neonates with '≥1 NICE clinical indicator and ≥1 risk factor' were most likely to have a sepsis risk score (SRS) >3. Birth below 37 weeks' gestation (risk ratio [RR] = 2.31, 95% confidence interval [CI]: 1.02-5.22) and prolonged rupture of membranes (RR = 3.14, 95% CI: 1.16-8.48) increased the risk of an SRS >3.
Interpretation: Screening for EONS on the SRC could potentially reduce PAb usage by 68% in term and near-term neonates in level 2 neonatal units.
{"title":"Screening for early-onset neonatal sepsis on the Kaiser Permanente sepsis risk calculator could reduce neonatal antibiotic usage by two-thirds.","authors":"Michelle Fernandes, Lucinda Winckworth, Lyrille Lee, Madiha Akram, Simon Struthers","doi":"10.1002/ped4.12344","DOIUrl":"10.1002/ped4.12344","url":null,"abstract":"<p><strong>Importance: </strong>Effective screening strategies for early-onset neonatal sepsis (EONS) have the potential to reduce high volume parenteral antibiotics (PAb) usage in neonates.</p><p><strong>Objective: </strong>To compare management decisions for EONS, between CG149 National Institute for Health and Care Excellence (NICE) guidelines and those projected through the virtual application of the Kaiser Permanente sepsis risk calculator (SRC) in a level 2 neonatal unit at a district general hospital (DGH).</p><p><strong>Methods: </strong>Hospital records were reviewed for maternal and neonatal risk factors for EONS, neonatal clinical examination findings, and microbial culture results for all neonates born at ≥34 weeks' gestation between February and July 2019, who were (1) managed according to CG149-NICE guidelines or (2) received PAb within 72 h following birth at a DGH in Winchester, UK. SRC projections were obtained using its virtual risk estimator.</p><p><strong>Results: </strong>Sixty infants received PAb within the first 72 h of birth during the study period. Of these, 19 (31.7%) met SRC criteria for antibiotics; 20 (33.3%) met the criteria for enhanced observations and none had culture-proven sepsis. Based on SRC projections, neonates with '≥1 NICE clinical indicator and ≥1 risk factor' were most likely to have a sepsis risk score (SRS) >3. Birth below 37 weeks' gestation (risk ratio [RR] = 2.31, 95% confidence interval [CI]: 1.02-5.22) and prolonged rupture of membranes (RR = 3.14, 95% CI: 1.16-8.48) increased the risk of an SRS >3.</p><p><strong>Interpretation: </strong>Screening for EONS on the SRC could potentially reduce PAb usage by 68% in term and near-term neonates in level 2 neonatal units.</p>","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2022-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/09/PED4-6-171.PMC9523803.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10721952","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}