BMC PediatricsPub Date : 2024-11-14DOI: 10.1186/s12887-024-05186-z
Samah Zahran, Dylan P Cliff, Devan Antczak, Eivind Aadland, Katrine N Aadland, Jade Burley, Valerie Carson, Catherine E Draper, Dorothea Dumuid, Nicholas Kuzik, Diego Augusto Santos Silva, Esther M F van Sluijs, Mark S Tremblay, Timothy S Olds, Anthony D Okely, Rebecca Stanley, Rute Santos, Ian Janssen
{"title":"Optimal levels of sleep, sedentary behaviour, and physical activity needed to support cognitive function in children of the early years.","authors":"Samah Zahran, Dylan P Cliff, Devan Antczak, Eivind Aadland, Katrine N Aadland, Jade Burley, Valerie Carson, Catherine E Draper, Dorothea Dumuid, Nicholas Kuzik, Diego Augusto Santos Silva, Esther M F van Sluijs, Mark S Tremblay, Timothy S Olds, Anthony D Okely, Rebecca Stanley, Rute Santos, Ian Janssen","doi":"10.1186/s12887-024-05186-z","DOIUrl":"10.1186/s12887-024-05186-z","url":null,"abstract":"<p><strong>Background: </strong>Sleep, sedentary behaviour, physical activity, and the composition of these movement behaviours across the 24-h day are associated with cognitive function in early years children. This study used a Goldilocks day compositional data analysis approach to identify the optimal duration of sleep, sedentary behaviour, light physical activity, and moderate-to-vigorous physical activity associated with desired cognitive function outcomes in early years children.</p><p><strong>Methods: </strong>This cross-sectional study included 858 children aged 2.8-5.5 years from the Sleep and Activity Database for the Early Years. 24-h movement behaviours (sleep, sedentary behaviour, light physical activity, moderate-to-vigorous physical activity) were measured using ActiGraph accelerometers. Cognitive function was measured using three tasks from the Early Years Toolbox: visual-spatial working memory, response inhibition, and expressive vocabulary. A Goldilocks day compositional data analysis approach was used in R software to identify the optimal time-use compositions associated with the best 10% of the cognitive function scores.</p><p><strong>Results: </strong>The movement behaviour composition and the relative time spent in sleep and sedentary behaviour but not different intensities of physical activity were significantly associated with working memory (P ≤ 0.01). The movement behaviour composition and relative time spent in sleep, sedentary behaviour, and different intensities of physical activity were not significantly associated with response inhibition or expressive vocabulary (P > 0.2). Therefore, optimal time use was only determined for working memory. Optimal daily durations for working memory were observed with 11:00 (hr:min) of sleep, 5:42 of sedentary behaviour, 5:06 of light physical activity, and 2:12 of moderate-to-vigorous physical activity.</p><p><strong>Conclusion: </strong>Working memory was the only cognitive function outcome related to the 24-h movement behaviour composition. Optimal sleep for working memory was consistent with current recommended durations, while optimal moderate-to-vigorous physical activity greatly exceeded minimal recommended levels. Optimal sedentary behaviour was longer and light physical activity was shorter than the sample average.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614777","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}
BMC PediatricsPub Date : 2024-11-14DOI: 10.1186/s12887-024-05198-9
Sara B DeMauro, Haresh Kirpalani, Kristina Ziolkowski, Susan Hintz, Kristi Watterberg, Jean Lowe, Seetha Shankaran, Sanjay Chawla, Betty Vohr, Michael Msall, Carl D'Angio, Bradley A Yoder, Khanh Lai, Sarah Winter, Tarah Colaizy, Stephanie Merhar, Carla M Bann, Marissa Trotta, Jamie Newman, Aruna Natarajan, Abhik Das
{"title":"The HYdrocortisone for Bronchopulmonary Dysplasia Respiratory and Developmental (HYBRiD) outcomes study: protocol for a longitudinal cohort study.","authors":"Sara B DeMauro, Haresh Kirpalani, Kristina Ziolkowski, Susan Hintz, Kristi Watterberg, Jean Lowe, Seetha Shankaran, Sanjay Chawla, Betty Vohr, Michael Msall, Carl D'Angio, Bradley A Yoder, Khanh Lai, Sarah Winter, Tarah Colaizy, Stephanie Merhar, Carla M Bann, Marissa Trotta, Jamie Newman, Aruna Natarajan, Abhik Das","doi":"10.1186/s12887-024-05198-9","DOIUrl":"10.1186/s12887-024-05198-9","url":null,"abstract":"<p><strong>Background: </strong>Bronchopulmonary dysplasia (BPD) affects up to half of extremely preterm infants, and is associated with adverse long-term respiratory, neurodevelopmental, and educational sequelae and costly health service and family economic outcomes. The NICHD Neonatal Research Network Hydrocortisone for Bronchopulmonary Dysplasia (BPD) Trial evaluated the efficacy and safety of hydrocortisone treatment to prevent BPD in high-risk infants. The trial enrolled 800 very preterm infants with respiratory failure and followed the participants until 2 years corrected age to assess safety of the trial intervention. Longer-term impacts of hydrocortisone exposure and severity of BPD on functional outcomes of high-risk infants remain unknown. The HYdrocortisone for BPD Respiratory and Developmental (HYBRiD) Outcomes Study extends follow-up of all surviving children enrolled in the Hydrocortisone for BPD Trial until early school age. It aims to characterize the childhood functional motor, cognitive, academic, and pulmonary outcomes of this large, well-phenotyped trial cohort.</p><p><strong>Methods: </strong>Parents of surviving trial participants complete telephone questionnaires when their children are 3 and 4 years corrected age. A single in-person study visit takes place at early school age (5 years, 0 months to 7 years, 11 months corrected age). Children undergo a multidimensional assessment of functional outcomes and parents complete a battery of questionnaires. In 5 of 19 participating centers, respiratory mechanics are evaluated with impulse oscillometry.</p><p><strong>Discussion: </strong>The HYBRiD Outcomes Study will be the largest and most comprehensive evaluation to date of the functional early school age outcomes of children with a history of severe neonatal lung disease and of children exposed to HC during infancy. This will substantially improve understanding of the longer-term implications of severe neonatal lung disease; provide data to facilitate the development of future randomized intervention trials in this population; and inform public policy by enhancing knowledge about school age resource requirements in children with a history of prematurity and lung disease.</p><p><strong>Trial registration: </strong>clinicaltrials.gov ID NCT01353313. Primary trial registration 5/11/11 modified to include followup through school age 12/13/17. This manuscript reflects version 3 of the trial manuscript, dated 10/12/2020.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614790","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}
BMC PediatricsPub Date : 2024-11-14DOI: 10.1186/s12887-024-05192-1
Chuankai Lv, Chuanping Xie, Xiaoman Wang, Yakun Liu
{"title":"Ultrasonographic characteristics of neonatal appendicitis: a case series.","authors":"Chuankai Lv, Chuanping Xie, Xiaoman Wang, Yakun Liu","doi":"10.1186/s12887-024-05192-1","DOIUrl":"10.1186/s12887-024-05192-1","url":null,"abstract":"<p><strong>Background: </strong>Neonatal appendicitis is a rare but critical condition that presents diagnostic challenges due to its nonspecific symptoms and clinical manifestations. Early and accurate diagnosis is crucial for reducing the high mortality rates associated with this condition. Abdominal ultrasonography plays a pivotal role in identifying characteristic signs of appendicitis in neonates. This study aimed to investigate whether neonatal appendicitis can be diagnosed with abdominal ultrasonography by identifying its specific signs.</p><p><strong>Methods: </strong>This study reviewed 20 consecutive cases of neonatal appendicitis confirmed through surgery at a National Medical Center. Preoperative abdominal ultrasonography was analyzed for direct and indirect signs of appendicitis.</p><p><strong>Results: </strong>Our study included neonates with a mean age of 13.0 ± 7.1 days. The appendix was identifiable in 13 out of 20 cases (65%). The mean outer diameter of the appendix was 4.6 ± 1.8 mm. Eight cases had appendix diameter ≥ 4 mm. Fluid accumulation within the appendiceal cavity was noted in 6 (30%) patients, and peri-appendiceal fluid accumulation was detected in 5 (25%) patients. Ultrasonography revealed appendiceal perforation in 12 out of 16 cases (75%). The indirect signs of neonatal appendicitis included right lower quadrant (RLQ) abscess, pneumoperitoneum, and thickening of the intestinal wall and mesentery in the RLQ.</p><p><strong>Conclusion: </strong>Most cases of neonatal appendicitis may be diagnosed through abdominal ultrasonography by identifying both direct and indirect signs. Future studies with larger patient cohorts are needed to improve ultrasonographic diagnosis of neonatal appendicitis.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614794","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":"Application of a double-balloon method to remove button battery at the entrance of esophagus in a 17-month-old child: a case report.","authors":"Lan-Feng Xue, De-Yin Luo, Xiao-Ming Yang, Qing Yang, Yu Chen","doi":"10.1186/s12887-024-05207-x","DOIUrl":"10.1186/s12887-024-05207-x","url":null,"abstract":"<p><strong>Background: </strong>Since children have strong desire for exploration and poor safety awareness, foreign body impaction in the digestive tract is one of the most common critical conditions in children. Due to the popularity of electronic products, button battery ingestion by mistake is also increasing in children. Button battery impaction in the esophagus can cause serious complications such as esophageal cauterization and perforation in a short time. Therefore, more active treatment strategies should be taken once button battery ingestion occurs. Surgical treatment is traumatic and prone to cause various complications, so removal of foreign body retained in the esophagus under endoscopy is the preferred strategy.</p><p><strong>Case presentation: </strong>We introduced a new method to remove the button battery retained in the esophagus of a 17-month-old child. Soon after the patient arrived at the hospital, we actively arranged endoscopic surgery. After the gastroscope entered the esophageal inlet, we first cleaned up the esophageal residues, and then, the button battery was exposed. The surrounding esophageal mucosa showed a little cauterization-like damage. We tried to remove the foreign body using foreign body forceps first, but failed after repeated attempts. Then, we tried to use a disposable balloon to assist in dragging the foreign body, but because the patient was younger with narrower esophagus and the drag resistance of the foreign body was abnormally large, this method also did not work. Violent dragging may cause tearing and perforation of the esophagus. Hence, we used a columnar balloon to help expand the esophagus and successfully removed the button battery at the entrance of the esophagus. For this new method, the columnar balloon was used to expand the esophagus and the button battery was clamped with foreign body forceps, and then, the foreign body was dragged by a disposable stone removal balloon. Because two types of balloons were used, it was named double-balloon method.</p><p><strong>Conclusions: </strong>For the foreign body retained in the esophagus of younger children, the double -balloon method is recommended when the foreign body cannot be removed by traditional methods.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614719","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}
BMC PediatricsPub Date : 2024-11-13DOI: 10.1186/s12887-024-05211-1
Julio C Sánchez, Gloria L Porras, Maria A Torres, Juan C Olaya, Andrés M García, Laura V Muñoz, Heidy Y Mesa, Andrés F Ramírez
{"title":"Effects of clowning on anxiety, stress, pain, and hormonal markers in paediatric patients.","authors":"Julio C Sánchez, Gloria L Porras, Maria A Torres, Juan C Olaya, Andrés M García, Laura V Muñoz, Heidy Y Mesa, Andrés F Ramírez","doi":"10.1186/s12887-024-05211-1","DOIUrl":"10.1186/s12887-024-05211-1","url":null,"abstract":"<p><strong>Background: </strong>Clowning has been used in many hospitals, particularly for children. Studies suggest the effectiveness of this methodology, but more evidence is needed. The aim of this study was to evaluate the impact of a humour therapy intervention on biological markers, pain and anxiety levels in paediatric patients.</p><p><strong>Methods: </strong>Three different clinical contexts were chosen to assess the effect of clowning interventions: patients who were subjected to venepuncture (group 1), patients undergoing general anesthesia for any cause (group 2)and patients hospitalized in the pediatric ward without distinction of their disease (group 3). Groups 1 and 2 were divided into control (C) and intervention (I) subgroups. A saliva sample was taken from all the children to measure oxytocin and cortisol levels by ELISAs. Validated scales and crying time were used to determine pain, stress, and anxiety levels. Children in group 3 were assessed before and after the intervention, employing the same methods.</p><p><strong>Results: </strong>A total of 272 patients were included. The children in group 1 (n = 125) were 7.7 ± 3.2 years old, and 53.6% were females. 48% were in the I group, which showed decreased cortisol levels and increased oxytocin levels. The I group exhibited a decrease in perceived pain and crying time. The children in group 2 (n = 69) were aged 7.1 ± 3.5 years, and 36% were females. 51% were in the I group, which showed increased oxytocin levels and decreased cortisol levels, acute stress levels, perceived pain, and crying time. The children in group 3 (n = 78) were 8.6 ± 3.3 years old, and 54% of the children were females. There was an increase in oxytocin levels and a decrease in cortisol levels, stress levels and perceived pain following the intervention.</p><p><strong>Conclusions: </strong>This study suggested that an intervention based on clowning is an effective strategy for decreasing pain, stress, and anxiety levels in paediatric patients in different clinical contexts. These findings support the implementation of humour therapy programs in paediatric units.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614768","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":"A case of pioneering subcutaneous implantable cardioverter defibrillator intervention in Timothy syndrome.","authors":"Zixi Zhang, Keke Wu, Zhihong Wu, Yunbin Xiao, Yefeng Wang, Qiuzhen Lin, Cancan Wang, Qingyi Zhu, Yichao Xiao, Qiming Liu","doi":"10.1186/s12887-024-05216-w","DOIUrl":"10.1186/s12887-024-05216-w","url":null,"abstract":"<p><p>This case report presents a notable instance of subcutaneous implantable cardioverter defibrillator (S-ICD) implantation in a 9-year-old patient diagnosed with Timothy syndrome (TS), which is a rare condition characterized by mutations in the CACNA1c gene. Conventional therapies often have limited efficacy in managing TS. This case is significant, as it represents the youngest age for S-ICD implantation recorded in mainland China. While the absence of ventricular arrhythmias during hospitalization and follow-up is encouraging, it is not sufficient to conclusively establish the safety and feasibility of this intervention in young TS patients. Further research is needed to evaluate the long-term outcomes and to consider S-ICD as a potential standard treatment option for TS. Additionally, there is a need for a more detailed exploration of the molecular mechanisms underlying gene therapy and personalized interventions.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614716","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}
BMC PediatricsPub Date : 2024-11-13DOI: 10.1186/s12887-024-05123-0
Hafiza Noor Ul Ayan, Yvonne Nitschke, Abdul Razzaq Mughal, Holger Thiele, Naveed Altaf Malik, Ijaz Hussain, Syed Muhammad Ijlal Haider, Frank Rutsch, Jeanette Erdmann, Muhammad Tariq, Zouhair Aherrahrou, Ilyas Ahmad
{"title":"Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.","authors":"Hafiza Noor Ul Ayan, Yvonne Nitschke, Abdul Razzaq Mughal, Holger Thiele, Naveed Altaf Malik, Ijaz Hussain, Syed Muhammad Ijlal Haider, Frank Rutsch, Jeanette Erdmann, Muhammad Tariq, Zouhair Aherrahrou, Ilyas Ahmad","doi":"10.1186/s12887-024-05123-0","DOIUrl":"10.1186/s12887-024-05123-0","url":null,"abstract":"<p><p>ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification. Pathogenic variants in the ENPP1 cause generalized arterial calcification of infancy (GACI [OMIM 208000]). GACI, is an ultra-rare disease characterized by early-onset calcification of large and medium-sized arteries, leading to severe cardiovascular complications such as heart failure, pulmonary stenosis (PS), hypertension, and more. In this study, we report a novel homozygous splice-site pathogenic variant in ENPP1 (NM_006208, c.2230 + 5G > A; p.Asp701Asnfs*2) residing in C-terminal nuclease-like domain (NLD) of ENPP1 protein in a Pakistani family diagnosed with severe valvular PS and mild right ventricular hypertrophy (RVH). cDNA assays confirmed the skipping of exon 21, and the splice product underwent nonsense-mediated decay. Functional studies on fibroblasts from the patient demonstrated increased calcification and decreased enzymatic activity of ENPP1, recapitulating the hallmarks of GACI. By combining genetic analysis with the in vitro study, we substantiate that ENPP1:c.2230 + 5G > A variant is pathogenic, underscoring its role in the development of GACI.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614772","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":"Establishment and validation of a nomogram for predicting postoperative intestinal adhesion in children with acute appendicitis.","authors":"Dezhao Liu, Yuchi Wang, Liyun Sun, Lijia Pan, Junkui Wang, Ying Lu, Zhao Cui, Jingying Li, Hui Geng","doi":"10.1186/s12887-024-05213-z","DOIUrl":"10.1186/s12887-024-05213-z","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to explore the value of multiple indicators in the evaluation of risk factors for intestinal adhesion (IA) after appendectomy in children with acute appendicitis (AA).</p><p><strong>Methods: </strong>A retrospective study was conducted on 608 patients who underwent appendectomy in the Department of Pediatric Surgery, Children's Medical Center of Jilin Province from January 2017 to April 2023, with a one-year follow-up period to record the occurrence of IA after appendectomy. Univariate and multivariate analysis were used to screen the risk factors of postoperative IA, and a prediction model was established to predict postoperative IA.</p><p><strong>Results: </strong>There were 527 patients in the non-IA group and 81 patients in the IA group. Binary Logistic regression was used to determine the strength of correlation with postoperative intestinal adhesion. The risk factors identified were as follows: DS ≥ 43 h (OR = 3.903, 5points), CRP ≥ 65 mg/L (OR = 3.424, 4.5points), PCT ≥ 0.9 µg/L (OR = 8.683, 8points), Surgical duration ≥ 100 min (OR = 6.457, 7points), Appendiceal perforation (OR = 6.073, 6.5points), Postoperative exhaust time ≥ 55 h (OR = 14.483, 10points). After test, the nomogram drawn based on binary logistic regression can obtain good prediction efficiency. In the training set, the area under the curve was 0.960, the sensitivity was 0.898, and the specificity was 0.905. In the test set, the area under the curve was 0.957, the sensitivity was 0.864, and the specificity was 0.906.</p><p><strong>Conclusion: </strong>Postoperative exhaust time ≥ 55 h has a high risk of IA after appendicitis surgery in children. Early recovery of intestinal peristalsis function is essential. This scoring model is a novel and promising method for predicting postoperative IA.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11558897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614769","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}
BMC PediatricsPub Date : 2024-11-13DOI: 10.1186/s12887-024-05205-z
Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou
{"title":"Report of one case with de novo mutation in TLK2 and literature review.","authors":"Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou","doi":"10.1186/s12887-024-05205-z","DOIUrl":"10.1186/s12887-024-05205-z","url":null,"abstract":"<p><p>TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who presented distinctive facial features, gastrointestinal diseases, short stature, language delay, autism spectrum disorder, heart diseases, abnormal genitourinary system and skeletal abnormality. Moreover, we reviewed previous reported patients and our case in order to investigate more information on genotype-phenotype correlation and identify significant clinical characteristics for better diagnosis.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11559194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614779","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}
BMC PediatricsPub Date : 2024-11-12DOI: 10.1186/s12887-024-05203-1
Veronika Golubinskaya, Holger Nilsson, Halfdan Rydbeck, William Hellström, Gunnel Hellgren, Ann Hellström, Karin Sävman, Carina Mallard
{"title":"Cytokine and growth factor correlation networks associated with morbidities in extremely preterm infants.","authors":"Veronika Golubinskaya, Holger Nilsson, Halfdan Rydbeck, William Hellström, Gunnel Hellgren, Ann Hellström, Karin Sävman, Carina Mallard","doi":"10.1186/s12887-024-05203-1","DOIUrl":"10.1186/s12887-024-05203-1","url":null,"abstract":"<p><strong>Background: </strong>Cytokines and growth factors (GF) have been implicated in the development of retinopathy of prematurity (ROP) and bronchopulmonary dysplasia (BPD). We hypothesize that even small coordinated changes in inflammatory proteins or GFs may reveal changes in underlying regulating mechanisms that do not induce obvious changes in concentration of individual proteins. We therefore applied correlation network analysis of serum factors to determine early characteristics of these conditions.</p><p><strong>Methods: </strong>Concentrations of 17 cytokines and five GFs were measured and analysed in blood samples from cord blood, on day one and during the following month in 72 extremely preterm infants. Spearman's correlation networks distinguishing BPD and severe ROP patients from non-affected were created.</p><p><strong>Results: </strong>Most cytokine concentrations correlated positively with each other and negatively with GFs. Very few individual cytokines differed between patients with and without ROP or BPD. However, networks of differently correlated serum factors were characteristic of the diseases and changed with time. In ROP networks, EPO, G-CSF and IL-8 (cord blood), BDNF and VEGF-A (first month) were prominent. In BPD networks, IL-1β, IGF-1 and IL-17 (day one) were noted.</p><p><strong>Conclusions: </strong>Network analysis identifies protein signatures related to ROP or BPD in extremely preterm infants. The identified interactions between serum factors are not evident from the analysis of their individual levels, but may reveal underlying pathophysiological mechanisms in the development of these diseases.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614763","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}