Current Pediatric Reviews最新文献

{"title":"How not to Misdiagnose the Mild Forms of Mucopolysaccharidosis and Juvenile Idiopathic Arthritis.","authors":"Natalia V Buchinskaya, Nato D Vashakmadze, Natalia V Zhurkova, Lubov S Sorokina, Anastasia O Vechkasova, Liudmila K Mikhaylova, Leyla S Namazova-Baranova, Ekaterina Yu Zakharova, Valentina I Larionova, Dmitry O Ivanov, Mikhail M Kostik","doi":"10.2174/0115733963321478250316112649","DOIUrl":"https://doi.org/10.2174/0115733963321478250316112649","url":null,"abstract":"<p><strong>Aims: </strong>The similarity between mucopolysaccharidosis (MPS) patients and juvenile idiopathic arthritis (JIA) leads to ineffective and needless anti-rheumatic treatment and delayed initiation of enzyme-replacement therapy, the early start of which is crucial for diminishing the disease progression and yielding better outcomes Background: The prevalence of joint involvement in the attenuated forms of MPS leads to the JIA misdiagnosis, especially in patients without distinctive facial dysmorphic features.</p><p><strong>Objective: </strong>Our study aimed to compare mild forms of MPS and JIA and create a diagnostic score helping to differentiate both conditions.</p><p><strong>Methods: </strong>41 patients with mild forms of different types of MPS and 255 JIA patients with polyarthritis were included in the retrospective study. The routine clinical and laboratory features were used for the comparison analysis.</p><p><strong>Results: </strong>The main features of the MPS cohort were younger age at the disease onset, lower weight and height lower inflammation, and higher number of affected joints compared to JIA patients and involvement in the organs and system, specific for MPS. The majority of the patients had similar C-reactive protein levels. At least two extra-articular features with polyarticular involvement were the main discriminating factors for both conditions. The sum (>38) of the following criteria:ESR< 12 mm/h (38 points), growth delay (height ≤ -2.0 SD; 20 points), age of joint involvement < 1.0 years (24 points), male sex (15 points), and involvement of both elbows with limited range of motion (29 points) can help in the differentiation If a patient had no extra-articular features, typical for MPS. The specificity and sensitivity of this model are 91.0% and 92.7% respectively.</p><p><strong>Conclusion: </strong>This diagnostic algorithm might increase the suspicion of MPS and should be added to routine testing not miss the mild form of MPS inside JIA. Early diagnosis of mild cases allows for the initiation of treatment in patients with MPS at an earlier stage, which can significantly improve their daily functioning and quality of life.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575038","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":"The Relationship Between Hypotonia and Vestibular Dysfunction in Young Children: A Scoping Review.","authors":"Lena Van den Bossche, Leen Maes, Frederic Acke, Marieke Fontaine, Helene Verhelst, Ann Oostra, Ingeborg Dhooge","doi":"10.2174/0115733963376476250614212203","DOIUrl":"https://doi.org/10.2174/0115733963376476250614212203","url":null,"abstract":"<p><strong>Objective: </strong>To explore the prevalence and characteristics of infantile idiopathic hypotonia in the literature and investigate a potential association with vestibular dysfunction in young children.</p><p><strong>Methods: </strong>A scoping review was conducted following the Joanna Briggs Institute (JBI) guidelines and Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) standards. Literature was searched across MEDLINE, EMBASE, and Web of Science. Google Scholar, GreyNet International, and trial registers were searched for grey literature. Eligible articles were required to report features of children with idiopathic hypotonia or a predefined synonym.</p><p><strong>Results: </strong>Of 4,174 screened articles, 16 met the inclusion criteria. Eleven studies focused on various underlying causes of hypotonia and comprised 1150 hypotonic children, of which 24% remained undiagnosed. The remaining studies delved into the characteristics of idiopathic hypotonic children and described different developmental challenges in these children.</p><p><strong>Discussion: </strong>Clumsiness and poor coordination were commonly reported, and therapy, aiming to enhance muscle strength, coordination, and balance, was often recommended, yet none of the included articles explored vestibular dysfunction. Conclusion Despite diagnostic advancements, the underlying cause of hypotonia remains unidentified in some children. While similarities exist between hypotonic children and children with vestibular dysfunction, none of the reviewed studies explored vestibular dysfunction, warranting further investigation.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505089","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":"Netherton Syndrome Perspectives.","authors":"Kam Lun Ellis Hon, Yuet Ching Cheung, Zoe Mireille Chan, Yan Tung Law, Hei Tung Lam, Ashleigh Chu, Alexander K C Leung, Nisha Suyien Chandran, Kin Fon Leong","doi":"10.2174/0115733963361849250611072347","DOIUrl":"https://doi.org/10.2174/0115733963361849250611072347","url":null,"abstract":"<p><p>Netherton syndrome (NS), also known as Comèl-Netherton syndrome, is a rare disorder of cornification resulting from pathogenic variants in the Kazal type 5 (SPINK5) gene encoding serine protease inhibitor LEKTI. NS is characterized by the triad of congenital ichthyosiform erythroderma (CIE)/ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic diathesis. Due to the severity of pathogenesis and variability in clinical presentations, the management of NS poses significant therapeutic challenges, which often require a multidisciplinary approach. Current treatment modalities predominantly consist of topical interventions and supportive measures. With an improved understanding of NS pathophysiology, emerging literature has suggested novel systemic therapeutic options for NS, which include repurposed biologics like targeted inhibitors and intravenous immunoglobulins, but there remains a paucity of literature regarding their clinical outcomes. Although often cited among dermatologists and allergists, the condition is rare in Hong Kong and Singapore, and most physicians have not managed any case. This review suggests that NS may be underestimated clinically. We aim to raise awareness for clinicians in the specific clinical characteristics and pathophysiology of NS to decide tailor-made treatment plans and improve patient outcomes.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474235","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":"Drug Safety Signals for Pediatric Osteopenia and Osteoporosis: Disproportionality Analysis of USFDA Adverse Event Reporting System Analysis.","authors":"Kannan Sridharan","doi":"10.2174/0115733963375307250521100744","DOIUrl":"https://doi.org/10.2174/0115733963375307250521100744","url":null,"abstract":"","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141623","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":"The Association between Prenatal Antibiotic Use and the Risk of Autism Spectrum Disorders among Children: An Updated Meta-Analysis.","authors":"Azam Maleki, Helen Behmanesh, Ensiyeh Jenabi","doi":"10.2174/0115733963352806250512100056","DOIUrl":"https://doi.org/10.2174/0115733963352806250512100056","url":null,"abstract":"<p><strong>Objective: </strong>Studies on prenatal antibiotic use and Autism Spectrum Disorder (ASD) risk have yielded inconsistent results.</p><p><strong>Aim: </strong>This study aimed to resolve these discrepancies by conducting a meta-analysis on the relationship between prenatal antibiotic use and ASD in children.</p><p><strong>Method: </strong>A comprehensive search was conducted in three main databases: PubMed, Scopus, and Web of Science, up to August 1, 2024. The analysis employed random-effect models to estimate effect sizes, including hazard ratios (HR) and odds ratios (OR). Publication bias was assessed using Begg's test and Egger's regression test. Subgroup analyses explored variations in the association based on the trimester of pregnancy. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS).</p><p><strong>Results: </strong>In this meta-analysis, which included twelve studies with a total population of 5,065,060, prenatal antibiotic use was associated with an increased risk of Autism Spectrum Disorder (ASD). The estimated HR for this risk was 1.08 (95% CI: 1.05, 1.12), and the OR was 1.16 (95% CI: 1.09, 1.23), with no detected heterogeneity among studies. The analysis found no publication bias. Significant associations were observed for each trimester: first trimester (HR: 1.11; 95% CI: 1.04, 1.18), second trimester (HR: 1.10; 95% CI: 1.06, 1.14), and third trimester (HR: 1.09; 95% CI: 1.01, 1.18).</p><p><strong>Conclusion: </strong>The analysis reveals a significant link between prenatal antibiotic use and an increased risk of ASD, with a consistently modest elevation in risk across all trimesters. Future research should focus on elucidating the mechanisms underlying this association by examining the effects of specific antibiotic classes, dosages, and timing during critical developmental periods. Longitudinal studies with comprehensive control for confounding factors are essential for strengthening causal inferences and guiding clinical recommendations regarding antibiotic use during pregnancy.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076729","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 Breast Milk or Supplemented Formula Milk on Fecal Metabolomic Profile.","authors":"Giuseppe De Bernardo, Fabio Centanni, Marta Improta, Valeria Crisci, Maurizio Giordano, Giuseppe Buonocore, Serafina Perrone","doi":"10.2174/0115733963341570250422095946","DOIUrl":"https://doi.org/10.2174/0115733963341570250422095946","url":null,"abstract":"<p><p>Breast milk is the best option for the nutritional needs of an infant. In situations where breastfeeding is contraindicated, donor human milk and formula milk are suggested as alternatives. This study highlights findings from two studies that evaluated how different dietary patterns (standard formula, post-biotic fermented formula, and breast milk) affected the intestinal microbiota and metabolome of late preterm and full-term infants. The metabolome of late preterm newborns showed a higher presence of metabolites-such as azelaic acid, N-acetylglucosamine-6- sulfate, and 13(S)-hydroperoxylinolenic acid-in those fed postbiotic-fermented formula, similar to breastfed full-term newborns. The fecal metabolites of breast milk and substitute feeding systems are comparable in these preliminary studies, confirming the effectiveness of formula preparations as breast milk substitutes. Furthermore, newborns fed with postbiotic-supplemented formula or breast milk had several similarities in fecal metabolites. The addition of postbiotics to formula milk appears to be more efficient than standard formula milk and is considered a better alternative to breast milk.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988926","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":"Special Health Care Needs in Internationally Adopted Children: Prevalence of Chronic Conditions and Interesting Origin-correlated Risk Factors.","authors":"Benedetta Signorelli, Catiuscia Lisi, Luisa Galli, Elena Chiappini","doi":"10.2174/0115733963350631250220130025","DOIUrl":"https://doi.org/10.2174/0115733963350631250220130025","url":null,"abstract":"<p><strong>Introduction: </strong>The Federal Maternal and Child Health Bureau defines Children with special health care needs (CSHCN) as those who have, or are at increased risk for, chronic physical, developmental, behavioral, or emotional conditions, and require health and related services beyond what is generally required by other children. More than half of the entire Italian internationally adopted children (IAC) population has special needs. This monocentric retrospective study aims to describe the demographic features and prevalence of several chronic conditions in a large cohort of IAC.</p><p><strong>Methods: </strong>Between 1 January 2009 and 31 October 2023, we consecutively enrolled all IAC referred to Anna Meyer Children's University Hospital, in Florence. This process followed a standardized operative protocol developed internationally. Then, univariate logistic regression analyses were performed.</p><p><strong>Results: </strong>Among 2694 IAC, 315 children (11.89%) were found to be affected by a chronic condition. Asia appears to have 101/561 (18.00%) prevalence of diseases in the total number of IAC from this region of origin, followed by Eastern Europe with 135/1030 (13.11%), Latin America 63/598 (10.54%) and Africa 16/435 (3.68%). The countries of origin with higher prevalence of chronic conditions were China (57.75%), India (15.89%), Russia (15.44%), and Ukraine (13.79%). Children adopted from China and India have a high prevalence of malformations (p = 0.016), while children adopted from Russia accounted for 69.77% of the total fetal alcohol syndrome affected in our cohort. Mental and behavioral disorders appear significantly more prevalent in children from Latin America (p = 0.015), whereas endocrinological disorders predominate in children from Africa (p = 0.014). High rates of precocious puberty were recorded in Asia (p = 0.018) and Africa (p = 0.001) in comparison with the other regions of origin.</p><p><strong>Conclusion: </strong>A revision of the current definition of special needs for adoptive purposes is recommended. Italian screening of the adopted child could be tailored considering the country of origin, and the study of mental health should definitively become part of it.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988927","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":"Parvovirus B19 Intrauterine Infection and Cerebral Cortical Dysplasia: A Case Report.","authors":"Salvatore Aversa, Guglielmo Riccio, Brunetta Guaragni, Lorenzo Pinelli, Francesco Maria Risso","doi":"10.2174/0115733963349333250407065521","DOIUrl":"https://doi.org/10.2174/0115733963349333250407065521","url":null,"abstract":"<p><strong>Background: </strong>Intrauterine parvovirus B19 infection usually causes fetal anemia, hydrops, and stillbirth. Less commonly, central nervous system injuries have also been described.</p><p><strong>Case presentation: </strong>We report an atypical case of severe brain injury with diffuse malformation of cortical development and severely immature gyration in a preterm infant with profound fetal anemia and hydrops due to congenital parvovirus B19 infection. The fetus was treated with multiple intrauterine transfusions. Postnatal magnetic resonance imaging of the brain showed extensive encephalomalacia with severe volume loss of both hemispheres, associated with a deranged, markedly immature gyration.</p><p><strong>Conclusion: </strong>This case provides the first description of severe delay in brain maturation in intrauterine parvovirus B19 infection and represents evidence of a possible teratogenic effect of parvovirus B19 on the brain tissue.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978396","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":"The Role of Immune Markers in Predicting Infectious Complications in Children with Congenital Heart Defects.","authors":"Degtyareva Elena, Mwela Bupe Mumba, Prodeus Andrey, Ovsyannikov Dmitry, Kantemirova Marina, Alekseeva Olga, Kudlay Dmitry, Kim Alexey, Nefedova Inessa, Rogova Tatyana, Tumanyan Margarita, Korsunsky Iliya","doi":"10.2174/0115733963325523250320065040","DOIUrl":"https://doi.org/10.2174/0115733963325523250320065040","url":null,"abstract":"<p><p>The literature review presents data from a limited number of available studies conducted over the last two decades on immunological deficiency in congenital heart defects (CHDs), which is the cause of frequent infectious complications before and after cardiac surgery. Several studies based on screenings at various levels indicate the presence of primary and secondary immunodeficiency in CHDs, in particular about 13 genetic syndromes in which CHD is combined with immunodeficiency. The available data suggests a greater severity of immunological disorders in patients with critical CHDs, cyanotic CHDs, and conotruncal defects with T-cell dysfunction and deficiency of immunoglobulins (especially the IgG class, mainly IgG4) than in patients with shunts and obstructive defects. To identify defects in the T- and B-cell components of the immune system, quantification of the DNA of T-cell receptor excision circles (TRECs) and K-deleting recombination excision circles (KRECs)-by-products of the maturation of T- and B-cell receptors- has proven helpful in the world practice of neonatal screening. It allows the evaluation of a number of functionally mature T- and B-cells. In Russia, however, its widespread use started only in 2023. Data on the use of this assay in infants with CHDs are represented by isolated case reports. In Russia, a combination of CHD and primary immunodeficiency was found in 37% of cases in the Sverdlovsk Region. We conducted our own study of 200 children with CHD; 5% of cases were syndromic forms of CHD. 48.5% of children were admitted to the cardiac surgery clinic in critical condition. A decrease in the TREC level was detected in 23.5% of cases, including all children with syndromic CHD. In the group of patients with immunological disorders, there were significantly more children with cyanotic CHD, children admitted in critical condition, and children with conotruncal defects. Infectious complications in the postoperative period (sepsis, pneumonia, tracheobronchitis, postoperative wound infection) were observed significantly more often in 47 children with reduced TREC levels compared to children with normal TREC levels (P = .00000, in 36% and 3.6%, respectively). The analysis of publications confirms the prognostic value of TREC and KREC screening for targeted preoperative preparation to reduce postoperative complications and decrease the risk of mortality in CHDs.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729081","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":"Twins and Necrotizing Enterocolitis: Genetic Relevance.","authors":"Vineet Bhandari","doi":"10.2174/0115733963369969250212072155","DOIUrl":"https://doi.org/10.2174/0115733963369969250212072155","url":null,"abstract":"<p><p>In preterm infants, necrotizing enterocolitis (NEC) is one of the most devastating complications seen in the neonatal intensive care unit (NICU), with both short- and long-term sequelae. Outcomes reported for mono- (versus di-) chorionic twins suggest an increased incidence in the monochorionic twins, usually attributed to abnormal placental vascular connections. Same sex concordance and zygosity data suggest shared genetic and environmental factors as important contributing factors to the pathogenesis of NEC. This concept is further supported by fecal microbiome data from preterm twins. However, there is also some uncertainty in these observations because studies that controlled for gestational age did not show significant differences between singletons and twins in the occurrence of NEC. This mini-review was undertaken as a critical appraisal of the published literature in terms of twin studies to establish the genetic relevance vis-àvis NEC. There is a need for further evaluation of genetic and confounding factors arising from the environment and the gut microbiome in these infants using cohorts with larger sample sizes.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413757","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}