Italian Journal of Pediatrics最新文献

{"title":"Treatment of acute pharyngitis in children: an Italian intersociety consensus (SIPPS-SIP-SITIP-FIMP-SIAIP-SIMRI-FIMMG).","authors":"Elena Chiappini, Giovanni Simeone, Marcello Bergamini, Roberta Pellegrino, Alfredo Guarino, Annamaria Staiano, Susanna Esposito, Guido Castelli Gattinara, Andrea Lo Vecchio, Stefania Stefani, Iride Dello Iacono, Immacolata Scotese, Giovanna Tezza, Giulio Dinardo, Simona Riccio, Sofia Pellizzari, Sonia Iavarone, Giulia Lorenzetti, Elisabetta Venturini, Daniele Donà, Luca Pierantoni, Mattia Doria, Silvia Garazzino, Fabio Midulla, Claudio Cricelli, Luigi Terracciano, Annalisa Capuano, Eugenia Bruzzese, Daniele Ghiglioni, Lara Fusani, Eleonora Fusco, Paolo Biasci, Lamberto Reggiani, Luigi Matera, Enrica Mancino, Elisa Barbieri, Antonio D'Avino, Laura Cursi, Maria Giuseppa Sullo, Silvestro Scotti, Gian Luigi Marseglia, Giuseppe Di Mauro, Nicola Principi, Luisa Galli, Maria Carmen Verga","doi":"10.1186/s13052-024-01789-5","DOIUrl":"10.1186/s13052-024-01789-5","url":null,"abstract":"<p><p>Sore throat represents one of the main causes of antibiotic overprescription in children. Its management is still a matter of debate, with countries considering streptococcal pharyngotonsillitis a benign and self-limiting condition and others advocating for its antibiotic treatment to prevent suppurative complications and acute rheumatic fever. Italian paediatricians frequently prescribe antibiotics on a clinical basis regardless of microbiological results. Moreover, broad-spectrum antibiotics are inappropriately prescribed for this condition. In this regard, an intersociety consensus conference was issued to promote the judicious use of antibiotic therapy in paediatric outpatient settings. A systematic review of the literature was performed, and updated recommendations were developed according to the GRADE methodology. Antibiotic treatment with amoxicillin (50 mg/kg/day) for 10 days is recommended in all children with proven streptococcal pharyngitis. Benzathine-penicillin could be prescribed in children with impaired intestinal absorption or inability to tolerate enteral intake and in those at high risk of suppurative complications with low compliance to oral therapy. In children with suspected amoxicillin allergy, third-generation cefalosporins for five days are recommended in low-risk patients, and macrolides are recommended in high-risk ones. Candidates for tonsillectomy due to recurrent pharyngitis could be treated with amoxicillin-clavulanic acid, clindamycin, or combined therapy with amoxicillin plus rifampicin for four days, in an attempt to avoid surgery.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"235"},"PeriodicalIF":3.2,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.","authors":"Lili Dong, Lei Zhang, Chunna Xu, Mingfa Guo, Yu Tang, Yuelin Shen","doi":"10.1186/s13052-024-01813-8","DOIUrl":"10.1186/s13052-024-01813-8","url":null,"abstract":"<p><p>We present two rare cases of p67phox-deficient chronic granulomatous disease (CGD) caused by compound heterozygous mutations in the NCF2 gene. They developed cervical lymphadenitis as the initial manifestation of CGD but had distinct clinical progressions. Patient 1 presented with aspergillous meningitis, an extremely rare manifestation of neurological involvement in CGD, which has not been reported before. Patient 2 presented with non-infectious inflammatory lymphadenitis is also very rare and has not been reported previously. These cases emphasize the importance of considering p67phox-deficient CGD in children with late-onset invasive fungal infections and non-infectious inflammatory lesions. Additionally, we also reviewed previous reports of Chinese patients with P67phox-Deficient CGD. Our objective is to raise awareness about the clinical, diagnostic, and genetic characteristics of P67phox-deficient CGD in China, to reduce misdiagnosis and improve the management and prognosis of the disease.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"234"},"PeriodicalIF":3.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11539424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duration of onset, body temperature and C-reactive protein can be used to predict the results of pus culture in children with acute osteomyelitis of long bones.","authors":"Haiting Jia, Yanan Liu, Tao Liu","doi":"10.1186/s13052-024-01804-9","DOIUrl":"10.1186/s13052-024-01804-9","url":null,"abstract":"<p><strong>Background: </strong>With the application of PCR testing and Metagenomic Next-Generation Sequencing(mNGS), the detection rate of causative organisms in paediatric bone and joint infections has been greatly improved. The aim of our study is to identify some indicators that could be used to distinguish the culture results to optimize the use of PCR and mNGS.</p><p><strong>Methods: </strong>In this study, a total of 117 cases of acute osteomyelitis of long bones in children who underwent pus culture were included. Patients were grouped as culture-negative (n:21) and culture-positive (n:96) groups according to the results of pus culture. Age, sex, duration of onset, maximum body temperature at onset, inflammatory indicators and D-dimer after admission were systematically collected for all patients and were compared for both groups. ROC curve (ROC) was used to evaluate the diagnostic efficiency of culture-negative. Logistic regression analysis was conducted to determine independent risk factors for culture-negative.</p><p><strong>Results: </strong>There was no significant difference in age, sex and erythrocyte sedimentation rate between culture-negative group and culture-positive group (P > 0.05). The duration of onset was longer, and the temperature, white blood cells, neutrophils count, C-reactive protein and D-dimer were less elevated in culture-negative acute osteomyelitis (P < 0.05). Duration of onset, maximum body temperature at onset, white blood cell count, neutrophil count, C-reactive protein, and D-dimer have certain diagnostic efficacy in judging the efficacy of negative culture. Logistic regression analysis indicated that the duration of onset more than 6.5 days, the maximum body temperature at onset lower than 38.35℃ and C-reactive protein lower than 78.40 mg/L were independent risk factors for negative culture (P < 0.05).</p><p><strong>Conclusions: </strong>Our study revealed that duration of onset more than 6.5 days, maximum body temperature at onset lower than 38.35℃ and C-reactive protein lower than 78.40 mg/L were independent risk factors for predicting negative culture. In children with this type of acute osteomyelitis, we recommend that the pus be tested by PCR or mNGS as a priority.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"231"},"PeriodicalIF":3.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interplay of paternal caregiving and screen use habits on early childhood development and children's tantrums.","authors":"Emre Sari, Sıddıka Songül Yalçın","doi":"10.1186/s13052-024-01802-x","DOIUrl":"10.1186/s13052-024-01802-x","url":null,"abstract":"<p><strong>Background: </strong>This study aims to examine the association for paternal care and father-child screen use with early childhood development and children's temper tantrums.</p><p><strong>Method: </strong>Study file included questions about paternal characteristics, child care, father-child screen habits, and utilized the UNICEF Early Childhood Development Index (ECDI). Factors influencing ECDI-on-track status and children's responses when screen use was restricted were investigated with Chi-square test and multiple logistic regression.</p><p><strong>Results: </strong>The study included 464 fathers having children aged 3-4 years. The findings showed that 89.7% of the children were on track in three out of the four ECDI subgroups. When screen use was restricted, 55.6% of the children engaged in another activity, while 44.4% reacted by crying. Multiple logistic regression analysis revealed that the father's education level, the child's age and gender, the starting age for screen usage, the child's reaction to screen restriction, and having three or more books were associated with ECDI. Furthermore, the child's reaction to screen restriction was related to the child's and father's screen time, the presence of three or more books, the adequacy of care, and being on track in the literacy-numeracy ECDI subgroup.</p><p><strong>Conclusion: </strong>Screen usage habits significantly impact early childhood development and children's reactions to screen restrictions. These findings underscore the importance of educating fathers about the effects of their own and their child's media habits, the quality of fatherly caregiving, and the presence of books in fostering positive child development.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"230"},"PeriodicalIF":3.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adverse food reactions and alterations in nutritional status in children with autism spectrum disorders: results of the NAFRA project.","authors":"Serena Coppola, Rita Nocerino, Franca Oglio, Paola Golia, Maria Candida Falco, Maria Pia Riccio, Laura Carucci, Teresa Rea, Silvio Simeone, Raffaele Garotti, Nadia Marani, Carmela Bravaccio, Roberto Berni Canani","doi":"10.1186/s13052-024-01794-8","DOIUrl":"10.1186/s13052-024-01794-8","url":null,"abstract":"<p><strong>Background: </strong>To assess the adverse food reactions (AFR) prevalence in children with autism spectrum disorder (ASD) and in non-ASD healthy controls (NASD). Nutritional status alterations, food selectivity and adherence to Mediterranean Diet (MD) were also evaluated.</p><p><strong>Methods: </strong>The NAFRA (Nutritional status and Adverse Food Reactions in children with Autism Spectrum Disorder) project was an observational, case-control, comparative study conducted at a tertriary center for pediatrics involving Caucasian patients of both sexes, aged 18 months-7 years, with a diagnosis of ASD, and matched NASD controls.</p><p><strong>Results: </strong>From October 2017 to December 2023, 100 ASD patients [79 male, mean (± SD) age 49.9 months (± 15.4)] and 100 NASD controls [75 male, mean (± SD) age 49.8 months (± 17.7)] were enrolled at the Pediatric Section of the Department of Translational Medical Science of the University of Naples Federico II. A significantly higher prevalence of AFR was observed in ASD patients if compared with NASD (16% vs. 2%, p = 0.001), mainly due to a higher prevalence of food allergy (7% vs. 1%, p = 0.03). A significantly higher prevalence of food intolerance and celiac disease was also observed in ASD children. The rate of obesity was significantly higher in ASD patients compared to NASD. Food selectivity and low MD-adherence were more frequent in ASD children (26% vs. 2%, p < 0.0001 and 28% vs. 16%, p = 0.041, respectively).</p><p><strong>Conclusions: </strong>The high rate of AFR, obesity and unhealthy dietary habits observed in ASD children strongly suggest the importance of a multidisciplinary approach, providing early diagnosis of AFR and appropriate nutritional management to improve core and associated ASD-related conditions.</p><p><strong>Trial registration: </strong>The NAFRA Project was registered on https://clinicaltrials.gov/ with the identifier NCT04719923. Registered 18 January 2021. https://clinicaltrials.gov/study/NCT04719923 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"228"},"PeriodicalIF":3.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11533279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Photo editing and the risk of anorexia nervosa among children and adolescents.","authors":"Elena Bozzola, Elena Scarpato, Cinthia Caruso, Rocco Russo, Tommaso Aversa, Rino Agostiniani","doi":"10.1186/s13052-024-01803-w","DOIUrl":"10.1186/s13052-024-01803-w","url":null,"abstract":"<p><p>Filters and photoediting are widely used to transform or alter photos, mainly selfies, before sharing with friends or on social networks. In adult population there is a strong evidence of the potential risks of this behaviuor. Aim of the present work is to revise international literature exploring the correlation between photo manipulation and anorexia nervosa among children and adolescents. International literature focusing on photo manipulation and anorexia nervosa has been examined, according to the PRISMA Extension guidelines for Scoping Reviews using the following strategies: \"Photomanipulation\" Filters: English, Child: 6-12 years, Adolescent: 13-18 years, from 2000-2024 Pubmed Search: ((\"Photography\"[Mesh]) AND \"Anorexia Nervosa\"[Mesh]) AND \"Anorexia Nervosa\"[Majr] Filters: Adolescent: 13-18 years, Child: 6-12 years, from 2000-2024. According to the literature review strategy, only few and limited evidences are available for the pediatric population. As well as in adults, there is an increased risk for eating disorders in adolescents regularly sharing selfies and practicing photo manipulation. New social media and online chat may be associated with lower personal weight satisfaction, higher drive for thinness, and eating disorder symptoms. The Italian Pediatric Society Communication Group suggests to increase the awareness on the potential risks of photo manipulation among children and adolescents, suggesting the plan of more studies target to this population to gain evidence specifically, social campaigns and school education. Finally, the use of technology should be included as part of routine pediatric control visit, especially in the pre-adolescence period.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"229"},"PeriodicalIF":3.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11536783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142575942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of a qualitative assessment approach for neonatal abstinence syndrome management: experience of a European reference center.","authors":"Mariana Cortez Ferreira, Ana Moura Figueiredo, Joaquim Pitorra, Joana Mesquita da Silva","doi":"10.1186/s13052-024-01788-6","DOIUrl":"10.1186/s13052-024-01788-6","url":null,"abstract":"<p><strong>Background: </strong>The management of infants at risk of neonatal abstinence syndrome (NAS) remains challenging. In 2000 Maternidade Bissaya Barreto implemented a strategy based on the qualitative assessment of neonates and in 2018 the Eat, Sleep, Console (ESC) approach, a tool based on similar concepts, was created. The aim is to assess the efficacy of a qualitative assessment of infants at risk, compare it with the ESC approach and report temporal trends of NAS in a European hospital.</p><p><strong>Methods: </strong>Retrospective cohort study of all infants of mothers with a history of drug abuse during pregnancy admitted to a tertiary European centre between January 2010 and December 2021. The therapeutical decision was guided by a qualitative assessment of the newborn's well-being. The ESC approach was retrospectively determined. Pharmacologic treatment was used as a last resort. The clinical outcomes and therapeutic strategies employed were evaluated. Statistical association was evaluated. The incidence rate per 1000 births was calculated and temporal trend differences were identified.</p><p><strong>Results: </strong>A total of 79 neonates at risk were included, of whom 40 (50.6%) developed NAS. Consolability was the most affected criterion (35.0%), followed by feeding difficulties (12.5%). Sleep was affected less frequently (5.0%). Overall, 37.5% of infants failed to meet at least one of the criteria. All neonates with a positive ESC failed the qualitative assessment (p = 1.000) After optimization of nonpharmacologic measures, drug therapy was still necessary in four cases (10.0% of infants with the syndrome). The incidence rate of NAS decreased from 3.9 per 1000 births in 2010 to 0.0 per 1000 births in 2021 (p = 0.025).</p><p><strong>Conclusion: </strong>The qualitative assessment of the infant based on the ability to feed, sleep and be consoled correctly identified neonates at risk and led to a significant reduction in the use of drug therapy. The incidence rate of NAS decreased during the study period.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"224"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Paracetamol and ibuprofen fixed-dose combination for the management of acute mild-to-moderate pain in children: strengthening and enhancing of result of Nominal Group Technique through Delphi consensus.","authors":"Emanuele Castagno, Niccolò Parri, Antonio D'Avino, Elena Ferrari, Paola Giovanna Marchisio, Virginia Messia, Maurizio Taglialatela, Annamaria Staiano","doi":"10.1186/s13052-024-01791-x","DOIUrl":"10.1186/s13052-024-01791-x","url":null,"abstract":"<p><strong>Background: </strong>Paracetamol and ibuprofen are the most commonly used drugs for pain treatment in children and their combination has shown improved analgesic effect compared to treatment with either drug alone. Current literature lacks specific guidelines regarding the settings in which this combination should be adopted.</p><p><strong>Methods: </strong>The survey, conducted with Delphi methodology, involved 75 hospital and outpatient pediatricians with clinical experience in the management of pain in children. Pediatricians involved were asked to validate or not the results of the previous NominalGroup Tecnique (NGT) consensus and thus specify the optimal clinical settings in which the paracetamol/ibuprofen fixed-dose combination could be adopted.</p><p><strong>Results: </strong>The results confirm the importance of the fixed-dose paracetamol and ibuprofen combination for the control of mild-to-moderate acute pain in children. Particularly, this association seems to be appropriate in case of headache, earache, odontalgia and musculoskeletal pain, and in specific settings such as post-operative and post-procedural pain. The broadening of the panel brought to slight variations in clinical management practices between hospital and outpatient specialists. Nonetheless, overall consensus supports the notion that the fixed dose combination is more efficacious than monotherapies and it is well tolerated. Moreover, experts unanimously agree on the usefulness of the combination for caregivers, leading to improved adherence and effectiveness.</p><p><strong>Conclusions: </strong>Both the NGT consensus and the broader Delphi consensus confirm the usefulness of the paracetamol-ibuprofen fixed-dose combination in pediatric pain. This is attributed to its superior effectiveness compared to monotherapies, a good tolerability profile, and improved compliance and ease of use. Some pain settings related to chronic, inflammatory and rheumatological pathologies remain to be investigated to evaluate the use of this combination.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"223"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study.","authors":"Jiangbiao Xie, Wei Zhuang, Yao Zhu, Zhi Zheng, Yanru Huang, Simin Ma, Xinzhu Lin","doi":"10.1186/s13052-024-01776-w","DOIUrl":"10.1186/s13052-024-01776-w","url":null,"abstract":"<p><strong>Background: </strong>To investigate the potential influence of adenosine and dopamine receptor genes polymorphisms in combination with clinical factors on the response of preterm infants to caffeine citrate treatment in apnea of prematurity (AOP).</p><p><strong>Methods: </strong>A prospective nested case-control study enrolled 221 preterm infants with gestational age < 34 weeks. These infants were divided into the response (n = 160) and the non-response groups (n = 61). 22 single-nucleotide polymorphisms in adenosine and dopamine receptor genes were genotyped. The basic characteristics and clinical outcomes of the two groups were compared. Univariate logistic regression analysis was performed to evaluate the differences in genotype distribution between the groups. Multivariable logistic regression analysis was performed to identify independent risk and protective factors and develop a nomogram to predict caffeine citrate response in preterm infants.</p><p><strong>Results: </strong>Preterm infants in the non-response group had lower gestational age, lower birth weight, longer periods of oxygen supplementation and caffeine citrate use, and higher incidence of patent ductus arteriosus (PDA), bronchopulmonary dysplasia (BPD), neonatal respiratory distress syndrome (NRDS), retinopathy of prematurity (ROP), and brain injury (P < 0.05 for all). The ADORA1 rs10920573, ADORA2B rs2015353, ADORA3 rs10776728, DRD3 rs7625282, and DRD3 rs6280 gene polymorphisms were associated with caffeine citrate response in preterm infants (P_FDR < 0.05 for all). The ADORA1 rs10920573 CC (aOR, 3.51; 95% CI, 1.34-9.25) and DRD3 rs6280 CT genotypes (aOR, 3.19; 95% CI, 1.53-6.65) were independent risk factors for non-response, whereas greater gestational age (aOR, 0.631; 95% CI, 0.53-0.75) was an independent protective factor for response. The concordance index of the nomogram was 0.764 (95% CI, 0.687-0.842), and the calibration and decision curve analysis indicated the nomogram had excellent predict performance.</p><p><strong>Conclusions: </strong>Adenosine receptor gene and dopamine receptor gene polymorphisms influence caffeine citrate treatment response in AOP. By combining genetic and clinical variables, it is possible to predict the response to caffeine citrate treatment in preterm infants.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"225"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel TBC1D8B variant causes neonatal nephrotic syndrome combined with acute kidney injury.","authors":"Yuanyuan Xu, Chao Dai, Jing He, Yaping Liang, Ying Zhu, Fang Deng, Chang Wang, Danqun Jin","doi":"10.1186/s13052-024-01790-y","DOIUrl":"10.1186/s13052-024-01790-y","url":null,"abstract":"<p><strong>Background: </strong>Nephrotic syndrome (NPHS), characterized by proteinuria, hypoalbuminemia, and edema, can be caused by genetic variations. TBC1D8B was recently discovered as a novel disease-causing gene for X-linked NPHS. With only a few reported cases, the clinical manifestations associated with variants of this gene need to be further examined.</p><p><strong>Methods: </strong>We recruited a newborn with NPHS complicated by acute kidney injury (AKI) and his parents and tested the potential genetic cause of the disease through trio-whole exome sequencing and Sanger sequencing. Western blotting (WB) was performed using a mutant plasmid to evaluate mutant protein expression levels. Since the TBC1D8B protein interacts with RAB proteins to catalyze the GTPase hydrolysis process, immunofluorescence (IF) can be used to verify the interaction between the TBC1D8B mutant protein and RAB11A/RAB11B, and thus to confirm its effect on the endocytosis and vesicle recycling functions of RAB proteins within the cell.</p><p><strong>Results: </strong>The child, at 1 month, showed severe edema and proteinuria and unexplained coma with epilepsy. Ultrasound examination revealed multiple organ enlargement, and MRI showed nonspecific high diffusion-weighted imaging signal characteristics in the splenium of the corpus callosum. Hematoxylin and eosin staining showed diffuse inflammatory cell infiltration in the renal interstitium and multifocal renal tubule lumen expansion. Diffuse fusion of podocyte foot processes was observed under electron microscopy, indicating glomerular podocyte lesions. Genetic testing revealed a maternally inherited novel hemizygous variant, NM_017752: c.628 A > T, p.Lys210Ter, in TBC1D8B. In vitro functional experiments showed that this variant may lead to TBC1D8B protein degradation. IF results showed disrupted interaction with RAB11A/RAB11B, that then affects the biological function of RAB proteins in the process of cell intimal vesicle formation and intracellular transport.</p><p><strong>Conclusion: </strong>This study will enrich the mutational and phenotypic spectra of TBC1D8B and demonstrate the potential of this gene variants to cause early-onset NPHS leading to severe kidney disease.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"222"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}