Current Pediatric Reviews最新文献

{"title":"Prune-Belly Syndrome: An Update.","authors":"Ana Flávia Conegundes, Isadora Garcia, Bárbara Miranda, Arthur Borges, André Sanglard, Gabriel Ferreira, Rafael Borges, Ana Cristina Simões E Silva","doi":"10.2174/0115733963285237240524042142","DOIUrl":"https://doi.org/10.2174/0115733963285237240524042142","url":null,"abstract":"<p><p>The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141327377","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":"\"Non-COVID-19\" Coronavirus Diseases Not to be Misdiagnosed as COVID-19.","authors":"Kam Lun Hon, Alexander K C Leung, Paul K S Chan, Su Yun Qian, Kin Tak Wong","doi":"10.2174/0115733963271787240509073056","DOIUrl":"https://doi.org/10.2174/0115733963271787240509073056","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 global pandemic was caused by a novel coronavirus (SARS-CoV-2), which then became an endemic infection. COVID refers to the World Health Organization's coined acronym for coronavirus disease.</p><p><strong>Case presentation: </strong>We have, herein, reported three cases of coronavirus diseases that could have been misdiagnosed as COVID-19. All of these families reported previous COVID-19 infection based on self-administered Rapid Antigen Testing (RAT) and completed a period of home isolation. In the current presentation, one child had an RSV-associated asthma attack, one had norovirus gastritis, and another had an infection with Campylobacter and E. coli. NL63, OC43, and 229E, respectively, were found by PCR in these patients.</p><p><strong>Discussion: </strong>Seven human coronaviruses cause infectious diseases, including in children. Confusion and issues associated with coronavirus disease diagnosis by Polymerase Chain Reaction (PCR) testing and Rapid Antigen Test (RAT) may arise. Some RATs are Antigen Fluorescent Immunoassays (FIA) that target monoclonal antibodies for the detection of viral nucleocapsid protein. Others target the non-nucleocapsid proteins. False positivity is possible. False negativity is also possible if the specimen's antigen level is below the test's detection limit. RAT results usually remain positive for 6 to 7 days, but they may stay positive as long as 2 weeks. Stigmatization with the COVID-19 diagnosis may occur. The PCR test is a highly sensitive 'gold standard' for the detection of COVID-19, but it can also detect non-infectious individuals' fragmented non-infectious viral nucleic acids, and could be positive for a long period. An individual may be tested positive for a few weeks to months after the individual becomes non-infectious.</p><p><strong>Conclusion: </strong>The cases presented here had coronavirus diseases other than COVID-19. Coronavirus diseases can be caused by coronavirus variants other than SARS-CoV-2. Co-infections with other pathogens are present in these diseases. PCR testing of non-COVID-19 diseases may help in the accurate diagnosis of these ailments and respiratory co-infections.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141080989","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":"Persistent Inflammation, Immunosuppression, and Catabolism Syndrome in Pediatric Populations: A Brief Perspective.","authors":"Michael D Santarelli, Kelly A Davis, Ryan J Stark","doi":"10.2174/0115733963298459240508050319","DOIUrl":"10.2174/0115733963298459240508050319","url":null,"abstract":"<p><p>Surviving near-lethal insults, such as sepsis, trauma, and major surgery is more common due to advances in medical care. The decline in mortality has unmasked a population of chronic critically ill patients, many with the pathological immunophenotype known as Persistent inflammation, Immunosuppression, and Catabolism Syndrome (PICS). Though initially described in adults, many critically ill children exhibit the hallmarks of PICS, including lymphopenia, hyperinflammation, and evidence of ongoing somatic protein catabolism. These patients are plagued with recurrent infections and suffer worse outcomes. There remains a need to understand the pathophysiology underlying this condition to elucidate potential therapies and develop interventions. This perspective provides the most current update of PICS within the pediatric population.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944537","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":"Use and Efficacy of I-Gel in Complicated Intubations in Newborn Infants: A Review of Case Reports in the Literature.","authors":"Emiliano Barbieri, Maurizio Giordano, Giuseppe Sorgente, Giulia Borgia, Marta Improta, Monica Colonna, Valeria Crisci, Valentina Fattorusso, Flavia Barbieri, Giuseppe Buonocore, Giuseppe De Bernardo","doi":"10.2174/0115733963295361240426064436","DOIUrl":"https://doi.org/10.2174/0115733963295361240426064436","url":null,"abstract":"<p><strong>Introduction: </strong>Current guidelines for neonatal resuscitation suggest the use of a laryngeal mask when ventilation with both facemask and endotracheal tube has failed in newborns weighing >2000 g or delivered ≥ 34 weeks of gestation age. Paediatric I-gel® is one of the latest supraglottic airway management devices suitable for children and newborns. I-gel® use was effective in guaranteeing adequate ventilation in patients with anatomic abnormalities in case of respiratory impairment or during surgical procedures after the induction of anaesthesia.</p><p><strong>Objective: </strong>The purpose of our review was to evaluate the use and efficacy of I-gel® in case of complicated intubations.</p><p><strong>Methods: </strong>In July 2023, two authors of this paper independently conducted searches of the MEDLINE, Web of Science, and Scopus databases without imposing any time constraints or other restrictions. Three case reports were included, each describing the use of I-gel® device in difficult intubations in newborns with anatomical abnormalities.</p><p><strong>Results: </strong>No difficulties were reported in the insertion of the device, which was placed even by inexperienced clinicians.</p><p><strong>Conclusion: </strong>The data collected highlighted the possibility of using I-gel® not only as a rescue device after attempted and failed endotracheal placement but also as a first choice in selected patients. Studies on larger cohorts would be needed. Further research involving larger patient cohorts of multicentre NICUs is necessary to confirm the use of laryngeal masks in neonates weighing less than 2000 grams.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140847619","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":"Comparison of the Effectiveness of Beraksurf and Curosurf Exogenous Surfactants in the Treatment of Respiratory Distress Syndrome in Preterm Neonates: A Double-blind Randomized Study in the West of Iran.","authors":"F. Eghbalian, B. Basiri, Behnaz Hatami, Narges Mohammadi Parsa, E. Jenabi","doi":"10.2174/0115733963271143240403070529","DOIUrl":"https://doi.org/10.2174/0115733963271143240403070529","url":null,"abstract":"BACKGROUND\u0000To date, few studies have compared the effectiveness of exogenous surfactant therapy with Curosurf and Beraksurf in the treatment of respiratory distress syndrome (RDS) in preterm neonates.\u0000\u0000\u0000OBJECTIVE\u0000Since surfactant has a significant impact on the treatment of neonates with RDS, this study was conducted to introduce a more effective method for treating preterm neonates with RDS.\u0000\u0000\u0000METHODS\u0000The present clinical trial was conducted on 140 preterm neonates with RDS in the NICU department of two specialized university hospitals in Hamadan, western Iran. In one group, we used the Iranian-made surfactant Beraksurf, and in another group, we used the Italian-made surfactant Curosurf. In the end, the checklist for the two groups was completed. Data analysis was performed using SPSS version 22, and a significance level of 5% was considered for all tests.\u0000\u0000\u0000RESULTS\u0000The comparison of the frequency distribution of maternal corticosteroid administration, response to treatment and need for re-intubation, associated disorders, and mortality among neonates of the two groups of Beracsurf and Curosurf surfactant did not show a significant difference (p=0.962, 0.763, 0.725 and 0.149, respectively). Further, the comparison of the mean number of days requiring respiratory support, days free from respiratory support, and hospitalization days among neonates of the two groups of Beracsurf and Curosurf surfactant injection did not show a significant difference (p=0.910, 0.725, and 0.898, respectively). Additionally, the comparison of the time of initiation of feeding and the time of reaching maximum feeding among neonates of the two groups of Beracsurf and Curosurf surfactant injection also did not show significant differences (p=0.881 and 0.903, respectively).\u0000\u0000\u0000CONCLUSION\u0000Based on the fact that Beracsurf and Curosurf surfactants did not show significant differences in the treatment outcomes of RDS in preterm neonates, it is suggested that the Iranianmade surfactant, Beracsurf, should be used for the treatment of these neonates due to its cost-effectiveness and availability compared to Curosurf.","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140702291","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":"Effects of Vitamin D and E Supplementation on Prevention of Bronchopulmonary Dysplasia (BPD) in Premature Neonates: A Systematic Review and Meta-Analysis.","authors":"Nazanin Farahbakhsh, Deepak Sharma, S. Fatahi, M. Fathi, K. Vakili, N. Deravi, Zohreh Tutunchian, Elahe Ahsan, Shirin Yaghoobpoor, Seyed Ahmad Tabatabaii","doi":"10.2174/0115733963279420240402083916","DOIUrl":"https://doi.org/10.2174/0115733963279420240402083916","url":null,"abstract":"BACKGROUND\u0000Bronchopulmonary Dysplasia (BPD) has a multifactorial etiology. Vitamin E and vitamin D play an important role in lung development and can potentially be beneficial in the prevention of BPD.\u0000\u0000\u0000OBJECTIVE\u0000The study aimed to compare the risk of BPD occurrence in preterm neonates supplemented with vitamin D or E versus those who did not get supplementation.\u0000\u0000\u0000METHODS\u0000The literature search was conducted for this systematic review by searching the PubMed, Scopus, and Web of Science databases up to December 2022. Randomized controlled trials involved administering vitamin D or E to preterm neonates and examining the occurrence of BPD. We excluded non-English articles, and articles with non-relevant and insufficient data. We used the Critical Appraisal Skills Programme (CASP) checklist to assess the quality of the included studies. We used Egger's test to evaluate the risk of bias among the included studies. Heterogeneity was also assessed through Q-test and I2. We applied the random effect model for analysis. A P-value less than 0.05 was considered as significant. All the statistical analysis in the current study was performed using STATA 14. The Relative Risk (RR) was calculated as the effect size with 95% Confidence Interval (CI).\u0000\u0000\u0000RESULTS\u0000Three eligible studies seeking the role of vitamin D in the prevention of BPD were analysed. Meta-analysis revealed that receiving vitamin D supplementation can significantly reduce the risk of BPD in preterm infants (RR = 0.357, 95% CI: 0.189-0.675, I2 = 0.0%; p = 0.002). Similarly, for assessing the role of Vitamin E in the prevention of BPD, three eligible studies were analysed. Vitamin E supplementation was not found to play a significant role in the reduction of BPD (RR = 0.659, 95%CI = 0.243-1.786, I2 = 38.7%; p = 0.412).\u0000\u0000\u0000CONCLUSION\u0000Vitamin D supplementation could be beneficial in preventing BPD in preterm infants. However, evidence is not enough regarding vitamin E's role in reducing the incidence of BPD in preterm infants.","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140701930","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":"Is Necrotizing Enterocolitis and Spontaneous Intestinal Perforation Part of Same Disease Spectrum - New Insights?","authors":"P. M. Garg, P. Garg, Jeffrey S Shenberger","doi":"10.2174/0115733963298717240404032451","DOIUrl":"https://doi.org/10.2174/0115733963298717240404032451","url":null,"abstract":"The diagnosis of NEC is based on the presence of pneumatosis, dilated bowel loops, portal venous gas, or pneumoperitoneum on the abdominal x-ray. Published studies suggest that the appearance of pneumatosis most likely depends on the gestational age, with a shift occurring between 27-28 weeks. For infants of gestational age under 27 weeks, pneumoperitoneum is the most likely presentation of bowel injury due to the thin bowel wall and the colonization of the gut with the non-gas-producing bacteria. Assessment of postoperative morbidity and white matter injury on the brain MRI at term equivalent age in a cohort of preterm infants failed to identify differences between SIP and NEC groups when confirmed by histology. These findings illustrate the difficulty in conclusively identifying cases as SIP or NEC, particularly when gestational age is considered and raise speculation that both conditions lie on the same spectrum of intestinal injury.","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140730360","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":"Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian LIG4 Syndrome Patient with Severe Microcephaly: Case Report, In-silico Analysis and Systematic Review.","authors":"Amit Singh, Sabyasachi Senapati, I. Panigrahi, P. Khetarpal","doi":"10.2174/0115733963285549240328083623","DOIUrl":"https://doi.org/10.2174/0115733963285549240328083623","url":null,"abstract":"BACKGROUND\u0000LIG4 syndrome, characterized by immunodeficiency, sensitivity to ionizing radiations, intrauterine growth retardation, postnatal growth retardation, and microcephaly, is a rare genetic disorder caused by pathogenic variants of the LIG4 gene. Few patients are presented with no immune dysregulation as well.\u0000\u0000\u0000CASE STUDY\u0000We present here a male child of 2 years and 4 months of age with severe microcephaly and short stature. His birth weight was 1.9 Kg, and his current height, weight, and head circumference are 83.2 cm (z score = -2.37), 9.5 Kg (z score = -2.76), and 36 cm (z score = -9.24), respectively. Possible causative pathogenic compound heterozygous variants of the LIG4 gene, which were inherited from the parents, were identified by whole exome sequencing of the DNA of the patient and his parents. A systematic review of the literature is also performed to summarize the patients of LIG4 syndrome reported worldwide and summarize the associated genetic mutations of the LIG4 gene. Compound heterozygous variants (c.597_600delTCAG/ c.342del) of LIG4 gene were identified. The parents were found to be heterozygous carriers of one variant each.\u0000\u0000\u0000CONCLUSION\u0000The in-silico analysis of identified variants explains their effect on the structure and function of the LIG4 protein hence explaining the genotype-phenotype correlation.","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140730005","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":"Transcranial Magnetic Stimulation in the Treatment of Autism Spectrum Disorder: An Approach.","authors":"Cyndi Yacira Meneses Castaño, Paola Penagos","doi":"10.2174/0115733963285951240328051515","DOIUrl":"https://doi.org/10.2174/0115733963285951240328051515","url":null,"abstract":"<jats:sec>\u0000<jats:title />\u0000<jats:p />\u0000</jats:sec>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140750398","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":"Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.","authors":"Anna Degtyareva, Alina Dokshukina, Elena Filippova, Jekaterina Shubina, Ekaterina Tolmacheva, Igor Sadelov, Marina Albegova, Dmitriy Degtyarev","doi":"10.2174/0115733963264010231213103328","DOIUrl":"https://doi.org/10.2174/0115733963264010231213103328","url":null,"abstract":"<p><strong>Background: </strong>Cholestatic liver disease is an important cause of morbidity and mortality and a leading indication for liver transplantation in children. These include diseases, such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis, sclerosing cholangitis, bile acid synthesis defects, and many others.</p><p><strong>Case presentation: </strong>NGS was used as a diagnostic tool to identify the genetic cause in the patient with cholestatic syndrome and to figure out and describe what mutation will be found. In the present observation, the cholestasis syndrome with low GGT activity and intense pruritus was the leading symptom of the patient. The examination also revealed other characteristic features of osteo- oto-hepato-enteric syndrome. The patient had facial features that mimicked Alagille syndrome, which complicated the diagnostic search. Moreover, the genetic test revealed two new pathogenic variants in the UNC45A gene.</p><p><strong>Conclusion: </strong>This clinical observation demonstrates the importance of a multidisciplinary approach in the diagnosis of rare genetic diseases and using WES, which can accelerate the diagnosis compared with outdated gene panels.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139905320","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}