Children-Basel最新文献

Background: Down syndrome (DS) is commonly associated with complex respiratory phenotypes due to anatomical, immunological, and vascular factors. Pulmonary sequestration (PS) is a rare congenital malformation of non-functioning lung tissue with anomalous systemic arterial supply, occasionally reported in syndromic individuals.

Case presentation: We report the case of a female infant with DS who developed acute respiratory distress secondary to respiratory syncytial virus infection. Chest imaging revealed an intralobar pulmonary pseudosequestration in the right lower lobe, supplied by the celiac trunk and draining into the pulmonary veins, with a communication to the bronchial tree. The patient required pediatric intensive care support and nutritional rehabilitation. Surgical resection was deferred until adequate weight optimization could be achieved.

Discussion: This is, to our knowledge, the first description of intralobar pulmonary pseudosequestration in a patient with DS. The association suggests possible overlapping developmental mechanisms involving abnormal angiogenesis and emphasizes the importance of considering congenital pulmonary malformations in DS patients presenting with recurrent or severe respiratory symptoms.

Conclusions: Early recognition and tailored management may improve clinical outcomes in this vulnerable population.

Background/objectives: Children receiving chemotherapy are highly susceptible to infection, and bloodstream infection (BSI) is a major cause of morbidity in febrile neutropenia. Post-transfusion fever represents a specific diagnostic dilemma, where febrile non-hemolytic transfusion reactions may be clinically indistinguishable from early BSI. We aimed to develop and internally validate a simple bedside score to predict BSI in children presenting to the ED with post-transfusion fever.

Methods: We performed a retrospective, single-center diagnostic prediction study of consecutive ED encounters between 2015 and 2024 in a tertiary children's hospital. Eligible encounters involved patients ≤ 18 years with an underlying malignancy receiving systemic chemotherapy who presented with fever within 24 h of red blood cell or platelet transfusion, had neutropenia, and with at least one blood culture obtained. BSI was defined as growth of a clinically significant pathogen within 48 h; episodes with only contaminants or colonizing flora were classified as non-BSI. Multivariable logistic regression with four prespecified predictors-transfusion-to-ED arrival interval, body temperature, absolute neutrophil count (ANC), and C-reactive protein (CRP)-was used to develop the model and derive a 0-5 point bedside score. Performance was assessed using AUC, diagnostic indices at prespecified cut-offs, calibration, and bootstrap internal validation.

Results: Of 507 screened encounters, 287 met inclusion criteria; 39 (13.6%) were adjudicated as BSI. The full model showed good discrimination (AUC 0.82). The derived score (2 points for ANC = 0/µL; 1 point each for temperature ≥ 38.5 °C, CRP ≥ 2.5 mg/dL, and transfusion-to-ED interval ≥ 7 h) achieved an AUC of 0.84. At a cut-off ≥2, sensitivity was 97.4% and negative predictive value 98.8%, misclassifying 1 of 39 BSIs as low risk; at ≥3, specificity was 59.7% with sensitivity 89.7%. Bootstrap-corrected AUC was 0.83.

Conclusions: In children receiving chemotherapy who present with post-transfusion fever, a simple 0-5 point bedside score based on temperature, ANC, CRP, and transfusion-to-ED interval provided useful early stratification of BSI risk in this single-center cohort. Prospective multicenter validation is needed before clinical implementation.

Acute pancreatitis (AP) is a multifactorial, complicated inflammatory process that involves the organ and the tissues around it. In children, the most common causes of acute pancreatitis are abdominal trauma, infections (mostly viruses), systemic diseases, bile duct diseases (anatomical defects and/or gallstones) and genetic mutations. The course of the disease can vary from mild to very severe with life-threatening complications. The aim of this study was to conduct a retrospective analysis of causes, clinical picture, complications and treatment of acute pancreatitis in children. Materials and methods: We retrospectively analyzed the history of 57 children hospitalized in the Department of Paediatrics, Medical University of Silesia in Katowice between 2019 and 2022 with diagnosed acute pancreatitis. Results: The analysis included 57 children (age 2-18 years, average 11.0 years, 51% boys, 49% girls) with diagnosed acute pancreatitis. The most common causes of acute pancreatitis were biliary (14/57-24.6%), genetic (10/57-17.5%) and anatomical defects (8/57-14%). In 20/57 (35.1%) children, idiopathic acute pancreatitis was diagnosed. The genetically determined causes were the following: SPINK1 mutation in 5/57 (8.7%) children, PRSS1 mutation in 4/57 (7%) patients and CPA1 mutation in 1/57 (1.8%) children. A total of 19/57 (33.3%) children had more than one episode of acute pancreatitis during the considered period. A total of 10/57 (17.5%) children were obese. The clinical picture was dominated by abdominal pain, vomiting and jaundice. Complications were observed in 9/57 (15.8%) children: peripancreatic fluid collections (6/57-10.5%), pancreatic necrosis (4/57-7%), and pleural effusion and/or pseudocysts. Conclusions: The number of children diagnosed and treated with acute pancreatitis increased over time. The most frequent causes are genetic predispositions, infections and cholelithiasis. Acute pancreatitis should be considered in every case of abdominal pain, vomiting and jaundice in children. Complications with a severe course are also observed in the pediatric population with acute pancreatitis.

Aims: To describe lung ultrasound (LUS) features of Mycoplasma pneumoniae pneumonia and their distribution in pediatric age, and to correlate imaging findings with clinical and laboratory data. Methods: This is a multicenter, prospective, pilot study that involved three hospitals. In total, 35 patients aged 1 month to 17 years, admitted with a diagnosis of Mycoplasma pneumoniae infection, were enrolled. History, clinical, microbiological, and ultrasound data were collected. The LUS examination was performed at admission, recording the following features: presence of subpleural consolidation, bronchograms, B lines, or pleural effusion, and their characteristics. The scans were performed using a standardized approach, in which a composite score was obtained by summing the scores of the different parameters. Results: Consolidations were seen in 97% of children (mostly located in basal, posterior, and lateral fields), and 65% of patients had multiple ones. Non-perilesional B lines were found in 43% of cases, principally in the posterior and basal fields. Pleural effusion was found in 37% of children. The univariate logistic regression showed a correlation between the age of the patient and large-sized consolidations. Moreover, increased lymphocyte count was associated with a lower risk of large-sized consolidations. Conclusions: LUS is a low-cost, non-invasive tool that can reveal findings suggestive of Mycoplasma pneumoniae infection and help physicians better manage children with lower respiratory tract infections, supporting a more personalized diagnostic and therapeutic approach, including antibiotic selection. These preliminary findings also indicate that a larger, comparative study involving other bacterial and viral etiologic agents is warranted to confirm whether LUS patterns are pathogen-specific and whether they can predict clinical outcomes.

Objectives: To assess gastrointestinal permeability (GP) in children with Juvenile Idiopathic Arthritis (JIA) using a segment-specific sugar probe approach to assess gastric, small intestinal, and colonic permeability, and to determine whether GP alterations are associated with disease activity. Methods: This prospective study included 30 children with JIA and 22 healthy controls who underwent a validated multi-sugar absorption test. Urinary excretion of sucrose, lactulose, mannitol, and sucralose was measured to evaluate gastric, small intestinal, and colonic permeability. All JIA patients had discontinued immunosuppressive therapy for at least three months before testing. None had a relapse of the disease. Disease activity was assessed using the Juvenile Arthritis Disease Activity Score (JADAS10). Comparisons were conducted between patients and controls and between remission and active disease groups. Results: None of the participants reported gastrointestinal manifestations. The lactulose/mannitol (LA/MA) ratio, a global index of small intestinal permeability, showed no significant difference between JIA patients and controls, suggesting preserved overall barrier function. However, urinary excretion of lactulose, mannitol, and sucralose was significantly higher in JIA patients, while sucrose excretion was significantly lower, indicating segment-specific alterations in small intestinal, colonic, and gastric permeability. These abnormalities were consistently present, even in patients in clinical remission. No statistically significant differences were observed between remission and active disease groups, though a trend toward increased permeability was noted in the latter. Conclusions: Children with JIA exhibit segmental GP alterations that persist independently of clinical disease activity. Despite the relatively small population, this exploratory study suggests subclinical mucosal dysfunction and the need for further investigation into how the gut-joint axis may be playing a role in JIA pathogenesis, including via intestinal microbiota.

Objective: This study aimed to define transfusion-related adverse reactions (TRs) observed in paediatric patients at a university hospital in Turkey. Methods: The data from the archive of the Mersin University Hospital Blood Centre, spanning the period between August 2017 and August 2024, were subjected to retrospective analysis. The descriptive and clinical characteristics of paediatric patients who received blood transfusions and were recorded using the haemovigilance reporting system were subjected to analysis. The findings were presented in the form of descriptive statistics. Results: Over a seven-year period, 34 TRs were reported, yielding an overall incidence of 1.12‱ (95% CI: 0.79-1.55‱; 34/30,265). The reaction rate was 0.84‱ (95% CI: 0.45-1.42‱; 12/14,329) for erythrocyte concentrates, 1.11‱ (95% CI: 0.58-1.92‱; 11/9948) for fresh plasma and 2.04‱ (95% CI: 1.07-3.55‱; 11/5384) for platelet concentrates. The per patient incidence of TRs was 8.81‱ (95% CI: 6.20-12.17‱; 34/3861). A total of 35.3% of TRs were associated with erythrocyte concentrate, 32.4% with fresh plasma and 32.4% with platelet concentrate. The types of TRs were as follows: mild allergic reaction (64.7%), febrile non-haemolytic transfusion reaction (17.6%), anaphylactic reaction (5.9%), transfusion-related dyspnoea (5.9%), acute haemolytic reaction (2.9%) and acute unspecified transfusion reaction (2.9%). No errors were identified in the pre-transfusion process in any of the patients. Conclusions: Allergic and febrile non-haemolytic TRs are among the most commonly observed transfusion reactions in paediatric patients. The analysis of these reactions can be enhanced through the implementation of haemovigilance systems. The implementation of robust haemovigilance systems is crucial for the enhancement of preventive and corrective measures.

Persistent postoperative opioid use (PPOU) is an emerging challenge in pediatric perioperative care, with rates as high as 4.7% in opioid-naive adolescents. Despite advances in multimodal analgesia, current protocols often fail to prevent long-term opioid exposure, particularly after high-risk surgeries such as spinal fusions. While multiple strategies exist to reduce PPOU in children, including regional anesthesia and non-opioid analgesics, this review specifically focuses on methadone and pharmacogenomic-guided opioid prescribing as promising approaches. Methadone, a long-acting opioid with mu-opioid agonism, NMDA antagonism, and monoamine reuptake inhibition, has shown encouraging outcomes in adult and emerging pediatric studies but remains underutilized due to concerns over safety, variability, and familiarity. This narrative review explores the intersection of methadone pharmacology, pharmacogenomic (PGx)-guided opioid prescribing, and their potential to reduce PPOU and optimize perioperative pain control in children. We examine methadone's unique pharmacokinetic profile, extended half-life, and ability to reduce central sensitization and opioid tolerance. Data from pediatric trials in cardiac, spinal, and major abdominal surgeries are reviewed, highlighting methadone's potential to lower total opioid use, stabilize postoperative pain trajectories, and improve recovery. The review also discusses the role of PGx testing, particularly CYP2D6, CYP3A4, UGT2B7, and OPRM1 variants, in tailoring methadone dosing to individual metabolic profiles, reducing adverse effects, and improving analgesic efficacy. There are no well accepted generalizable perioperative methadone dose, number of doses and dosing intervals due to limited large multicenter studies in children. We outline challenges, including QTc prolongation, dosing variability, lack of pediatric-specific PGx guidelines, and ethical considerations around genetic testing in minors. The review calls for multidisciplinary perioperative teams, expanded PGx implementation, and real-world data from registries and AI-integrated models to support precision opioid strategies. Preventing PPOU in children is critical. Integration of methadone-based multimodal analgesia in high-risk painful in-patient procedures and future integration of PGx represent positive steps toward personalized, effective, and safer pain management in pediatric surgical patients, an urgent need as opioid stewardship becomes a clinical and public health imperative.

Background: Prenatal detection of congenital lung lesions has increased with improved imaging. These abnormalities are safely treated with thoracoscopic lobectomy. We implemented an enhanced recovery after surgery (ERAS) protocol to standardize care and aim to evaluate its safety and efficacy compared to a non-ERAS cohort. Methods: A single-center retrospective chart review was conducted for twenty patients (n = 10 ERAS, n = 10 non-ERAS) undergoing thoracoscopic lobectomy from 2014-2024. Results: ERAS patients were generally younger at the time of surgery (ERAS: 4.25 ± 2.76 months vs. non-ERAS: 6.45 ± 6.78 months, p = 0.17). Postoperative length of stay was shorter in ERAS (1.77 ± 0.60 days) vs. non-ERAS patients (5.25 ± 3.79 days, p = 0.03) as well as chest tube duration (ERAS: 1.44 ± 0.73 days vs. non-ERAS 3.64 ± 2.38 days, p = 0.01). ERAS patients received lower amounts of opioid analgesics compared to non-ERAS (p = 0.0046). Use of the ERAS protocol also decreased cost for the healthcare system compared to non-ERAS patients (p = 0.0037). ERAS patients had no reintubations or prolonged air leaks (defined as >48 h), compared to four reintubations (p = 0.04) and three prolonged air leaks (p = 0.07) in the non-ERAS group. Crucially, there were no complications in the ERAS group, whereas five non-ERAS patients experienced Clavien-Dindo level III (one IIIa, two IIIb, two IVa) complications (p = 0.02). Conclusions: Our preliminary findings demonstrate the successful integration of a novel ERAS protocol in pediatric thoracoscopic lobectomies and its efficacy in reducing standard post-operative recovery times without an increased rate of complications. Earlier discharge in the ERAS group constitutes less healthcare burden with improved resource utilization and less family, work, and social disruption.

A 15-year-old female developed refractory Complex Regional Pain Syndrome (CRPS) Type I of the left hand following metacarpal fixation. Conservative therapy and hand rehabilitation failed, resulting in persistent allodynia and functional loss. She was admitted for multimodal analgesia combining subanesthetic ketamine infusion, gabapentin, and a tunneled supraclavicular continuous nerve catheter delivering ropivacaine. Pain decreased from 7/10 at rest to 0/10 within 48 h. Allodynia has resolved, and motor function has fully recovered. The catheter was removed nine days later without complication, and pain remission persisted. This case demonstrates a safe and effective multimodal strategy for adolescent CRPS integrating central and peripheral desensitization mechanisms.

Background/Objectives: Intrahepatic cholestasis of pregnancy (ICP) is associated with adverse perinatal outcomes. However, its metabolic consequences on newborns remain inadequately characterized. This study investigated amino acid, carnitine, and acylcarnitine profiles in neonates born to mothers with ICP. Methods: This retrospective study encompassed 299 neonates born to mothers with ICP. For comparative analysis, term infants without additional complications (ICP-term, n = 150) were compared with term controls (n = 150). Capillary blood samples collected at 24-48 h of life as part of newborn screening were analyzed using LC-MS/MS for acylcarnitine and amino acid profiles. Results: The ICP cohort exhibited a high preterm delivery rate (46.2%), with maternal bile acids negatively correlating with gestational age (r = -0.266, p < 0.001). No inborn errors of metabolism were observed. Elevated levels of amino acids (alanine, leucine/isoleucine, valine, tyrosine, arginine, glycine, and ornithine) and specific acylcarnitines (C5, C5-OH, C10:1, and C18:2), along with decreased levels of amino acids (argininosuccinic acid and glutamic acid) and specific acylcarnitines (C3, C5-DC, C6-DC, C14, C14:1, C16, C16:1, and C18:1-OH), were observed in ICP-term neonates (p < 0.05). Receiver operating characteristic curve analysis identified ornithine (area under the curve [AUC] = 0.74) and leucine/isoleucine (AUC = 0.73) as strong discriminators. A multivariable model integrating multiple metabolites achieved high accuracy (AUC = 0.86 ± 0.03). Conclusions: This first comprehensive characterization of neonatal metabolic alterations in ICP reveals amino acid metabolism, fatty acid oxidation, and mitochondrial function disruptions, suggesting fetal adaptation to a cholestatic intrauterine environment. Metabolomic profiling may improve understanding of maternal-fetal interactions and inform strategies for risk stratification and long-term monitoring.