Frontiers in Pediatrics最新文献

{"title":"Morbidity and mortality in premature or low birth weight patients with congenital heart disease in three European pediatric heart centers between 2016 and 2020","authors":"A. D. De Silvestro, Bettina Reich, Sarah Bless, Julika Sieker, Willemijn Hollander, Karen de Bijl-Marcus, Cornelia F Hagmann, J. Nijman, Walter Knirsch, Mirielle N. Manon J. N. L. Floris Corine Maaike Raymond Ale Bekker Benders Groenendaal Koopman-Esseboom Nijman","doi":"10.3389/fped.2024.1323430","DOIUrl":"https://doi.org/10.3389/fped.2024.1323430","url":null,"abstract":"Background The treatment of preterm and low birth weight (LBW) neonates born with congenital heart disease (CHD) requiring early cardiac intervention remains challenging. We aimed to analyze morbidity and mortality in this combined high-risk patient group. Methods A retrospective cohort study was conducted of preterm [<37 weeks gestational age (GA)] and/or LBW neonates (<2,500 g) born with a diagnosis of CHD, which requires invasive cardiac intervention (surgery or catheter) within their first year of life. Patients born between 2016 and 2020 and treated in three European pediatric heart centers were included. Results A total of 308 neonates (51% male) with CHD were included. Of those, 237 (77%) were born preterm, 259 (84%) were LBW, and 188 (61%) were both. The median GA was 35.4 weeks (interquartile range 33.3–36.9) and the mean birth weight was 2,016 ± 580 g. CHD was categorized as simple (12%), moderate (64%), or severe (24%). The overall complication rate was 45% and was highest in patients with severe CHD (p = 0.002). One-year mortality (19%) was associated with severe CHD, low relative birth weight in patients with genetic diagnoses, and low GA at birth, whereas GA at birth significantly impacted survival only after 3 months of life. Conclusions The high morbidity and mortality in preterm and LBW neonates with CHD reflect their complexity and consequent limited treatment feasibility.","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"11 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140712602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Early detection and intervention for unilateral hearing loss and mild bilateral hearing loss in children: clinical practices and outcomes","authors":"Teresa Y. C. Ching, Elizabeth M. Fitzpatrick, Kerttu Huttunen, U. Löfkvist, Carmen Kung, Valerie Sung","doi":"10.3389/fped.2024.1400074","DOIUrl":"https://doi.org/10.3389/fped.2024.1400074","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"532 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140719596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Cystic kidney diseases in children and adults: from diagnosis to etiology and back","authors":"L. Lamot, Ivana Vuković Brinar, Margareta Fištrek Prlić, Bodo Beck","doi":"10.3389/fped.2024.1401593","DOIUrl":"https://doi.org/10.3389/fped.2024.1401593","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"240 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140720127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Effects of perinatal opioid exposure—volume II","authors":"Loretta P. Finnegan, Henrietta S. Bada","doi":"10.3389/fped.2024.1396595","DOIUrl":"https://doi.org/10.3389/fped.2024.1396595","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"56 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140736629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Pediatric endoscopy and sedation—volume II","authors":"Ron Shaoul, Jennifer R. Lightdale, Andrew S. Day","doi":"10.3389/fped.2024.1403090","DOIUrl":"https://doi.org/10.3389/fped.2024.1403090","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"55 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140748561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome","authors":"Takuya Hiraide, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, H. Saitsu, Tokiko Fukuda","doi":"10.3389/fped.2024.1360867","DOIUrl":"https://doi.org/10.3389/fped.2024.1360867","url":null,"abstract":"Background Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other proteins of small size (KEOPS) complex subunits cause GAMOS. The subunit TPRKB (TP53RK binding protein) has been reported in only two patients with GAMOS with homozygous missense variants. Clinical report Herein, we described a three-year-old male with GAMOS. He exhibited developmental delay, developmental regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. Brain magnetic resonance imaging revealed progressive brain atrophy, delayed myelination, T2-hypointense signals in the thalamus, and multiple intracranial abnormal signals on diffusion-weighted imaging. He presented with relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. Exome sequencing identified compound heterozygous missense and frameshift variants in TPRKB: c.224dup, p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe). Conclusions Our study supports that pathogenic TPRKB variants cause KEOPS complex-related GAMOS.","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"100 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140747041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Recent advances in pediatric red blood cells disorders","authors":"Gabriele Canciani, Giuseppe Palumbo, John Brewin, Francesca Rossi, Giulia Ceglie","doi":"10.3389/fped.2024.1403651","DOIUrl":"https://doi.org/10.3389/fped.2024.1403651","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"464 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140749582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Acute liver failure in children","authors":"Akash Deep, P. Tissieres","doi":"10.3389/fped.2024.1402119","DOIUrl":"https://doi.org/10.3389/fped.2024.1402119","url":null,"abstract":"","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"79 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140750287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature","authors":"Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody","doi":"10.3389/fped.2024.1341841","DOIUrl":"https://doi.org/10.3389/fped.2024.1341841","url":null,"abstract":"Stüve–Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"99 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A new custom-made bivalve brace for pectus carinatum in children and adolescents: preliminary promising experience of 140 patients from a tertiary center","authors":"Simone Frediani, Angelo Zarfati, V. Pardi, I. Aloi, A. Bertocchini, A. Accinni, F. Beati, Massimiliano Pasanisi, Alessandro Inserra","doi":"10.3389/fped.2024.1321633","DOIUrl":"https://doi.org/10.3389/fped.2024.1321633","url":null,"abstract":"Introduction International research suggests that poor patient compliance is the main cause of tutor failures in the context of potential novel orthopedic bivalve braces for conservative treatment of pectus carinatum. Our entire experimental study is based on the hypothesis that a rigid bivalve brace that patients can accept could solve the main problem associated with the conservative approach—poor compliance. The hypothesis was to reduce the thickness and weight of the classic bivalve brace to ensure concealment and make it sustainable enough to be worn several hours a day without compromising its therapeutic efficacy. Materials and method The research was conducted from January 2020 to December 2022 to ensure follow-up of all participants for at least 6 months. In 36 months, 140 patients with pectus carinatum were assessed and conservatively treated with the studied guardian to analyze the therapeutic efficacy of the bivalve brace and patient compliance. From the initial visit, the parents and patient were informed that this is a 2-year therapeutic course during which the bivalve brace should be worn at least 23 h a day (with 1 h of abstinence per day for routine personal hygiene practices). Compliance is the key to therapy success, and the duration of treatment depends on patient adherence. Results The exceptional effectiveness of the experimental brace was confirmed by both the questionnaire from the patients (with an average satisfaction rate of 8.9/10) and an assessment of the therapy's results by a properly selected medical committee (with a VAS scale satisfaction of 7.2/10 for symmetric forms and 7.1/10 for asymmetric ones). Conclusion In conclusion, the analyzed data confirmed the research hypotheses. First, none of the 140 patients had cardiovascular diseases directly related to their condition, confirming that pectus carinatum is a pathology of a purely aesthetic nature. Second, a cheap, lightweight, and easily obscured brace significantly improved patient compliance. Along with this, the social relevance of the aesthetic aspect today may be an important factor in motivating the study cohort to adhere to therapy. In the past, esthetics and appearance were less relevant at the social level, which may have contributed to the high abandonment and reduced compliance rates of the many studies in the literature.","PeriodicalId":510143,"journal":{"name":"Frontiers in Pediatrics","volume":"28 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140753560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}