Based on the current application status and existing challenges of artificial intelligence (AI) in the management of neonatal jaundice in primary medical institutions in China, a multidisciplinary expert panel was convened, including specialists from neonatology, pediatrics, child healthcare, obstetrics, public health, information management, and health administration, to develop the "Expert consensus on artificial intelligence-assisted monitoring and management of neonatal jaundice in primary medical institutions (2026)". This consensus focuses on how AI-assisted monitoring and management can empower early identification, risk assessment, and hierarchical referral of neonatal jaundice in primary medical institutions. It aims to improve the efficiency of early detection and dynamic management, prevent severe hyperbilirubinemia—especially bilirubin encephalopathy—and related adverse outcomes. The consensus addresses six clinical questions and proposes sixteen recommendations, providing standardized scientific guidance for primary healthcare providers in the implementation of AI-assisted monitoring and management of neonatal jaundice. Citation:Chinese Journal of Contemporary Pediatrics, 2026, 28(6): 643-651
This paper systematically explores the integration pathways, challenges, and future directions of artificial intelligence (AI) technology and narrative medicine in pediatric medical education. Due to the unique characteristics of the pediatric population, pediatric diagnosis and treatment place higher demands on physicians' empathy, communication skills, and humanistic qualities. Narrative medicine, as a key paradigm to address deficiencies in medical humanities, provides a theoretical framework and practical methods for cultivating these core humanistic qualities. However, its teaching promotion and practice face challenges such as insufficient scaling, lack of standardization, and limited depth of feedback. Advances in AI technology, particularly in natural language processing and generative AI, offer new opportunities to overcome these challenges. Based on a systematic literature review, relevant theories, research methods, and practical outcomes of the integration between AI and narrative medicine are synthesized, and a three-stage integration model of "independent development - skill empowerment - collaborative deepening" is constructed. The integration process faces significant challenges including technical ethics, educational integration, and value alienation. Finally, a new paradigm for future pediatric medical education centered on "human-machine collaboration" is proposed, aiming to cultivate the next generation of pediatricians who possess excellent technical skills, profound empathy, and resilient professional spirit, thereby opening new perspectives.
Febrile infection-related epilepsy syndrome (FIRES) mainly affects previously healthy children and adolescents, often leading to severe neurological impairment and long-term sequelae such as drug-resistant epilepsy and cognitive dysfunction. Based on two pediatric FIRES cases, combined with international and domestic guidelines as well as clinical experience, this paper highlights therapeutic strategies and escalation pathways tailored to different inflammatory phases in the acute and chronic stages. Incorporating continuous electroencephalogram monitoring and cerebrospinal fluid inflammatory cytokine profile changes, a phase-specific treatment approach is systematically described, centered on the rapid termination of status epilepticus, targeted cytokine immunotherapy, and multidisciplinary collaborative support, and the active use of tocilizumab, anakinra, and the ketogenic diet is emphasized, to provide practical guidance for clinicians in managing FIRES.
Objective To evaluate the impact of an optimized quality control system on neonatal screening outcomes for congenital hypothyroidism (CH). Methods Screening data from 2013 to 2023 were retrospectively collected. Quality indicators were compared between the pre-optimization period (2013-2018) and the post-optimization period (2019-2023). The relationship between initial thyroid-stimulating hormone (TSH) screening values and positive predictive value (PPV) was examined. Results A total of 1 264 541 neonates were screened, with a screening rate of 90.23%. The recall rate for initially positive cases was 94.87%, and the loss-to-follow-up rate was 5.13%. CH was confirmed in 419 infants, yielding a detection rate of 0.33‰ and a PPV of 3.60%. The median age at treatment initiation was 32 days. Compared with the pre-optimization period, the post-optimization period showed higher recall rate for initial positives, higher positivity among recalled cases, and higher CH detection rate, alongside a lower loss-to-follow-up rate; the age at treatment initiation was also reduced (all P<0.05). Neonates with initial TSH values ≥20.0 mIU/L had a PPV of 57.82%, significantly higher than those with TSH <20.0 mIU/L (P<0.001). Conclusions Optimizing the quality control system improves the quality of neonatal CH screening. Prioritizing the recall of neonates with initial TSH values ≥20.0 mIU/L may contribute to better prognosis.
Objective To investigate the antimicrobial resistance patterns of Escherichia coli isolates from infants younger than 90 days and analyze their relationships with age, infection site, and isolation time. Methods A retrospective study was performed by collecting Escherichia coli strains isolated from hospitalized infants aged ≤90 days in the neonatal ward of Capital Center for Children's Health, Capital Medical University from June 2020 to December 2023. Antimicrobial susceptibility testing was conducted. Relevant clinical information including age, infection site, and isolation time was collected to characterize the antimicrobial resistance of Escherichia coli from multiple perspectives. Results A total of 384 infants were included, among whom 253(65.9%) were in the neonatal group (age ≤28 days) and 131(34.1%) in the young infant group (29-90 days). The overall resistance rate of Escherichia coli was 72.4%, with a multidrug resistance rate of 21.0%. The neonatal group was more susceptible to invasive infections, whereas the young infant group exhibited higher antimicrobial resistance rates, with statistically significant differences observed in resistance rates to multiple antibiotics (P<0.05). Intestinal isolates showed higher resistance rates to β‑lactams, tetracyclines, and quinolones compared to the overall average, but lower resistance to sulfonamides. Blood isolates demonstrated higher resistance to β‑lactams. An increasing trend was observed in resistance to quinolones and tetracyclines over time. Among infants with multi-site infections, 72.9% had isolates with consistent antimicrobial susceptibility patterns, indicating clonal homology. Conclusions Escherichia coli isolates from infants aged 29-90 days exhibit relatively high antimicrobial resistance rates. In infants younger than 90 days, resistance patterns differ by age group and infection site, highlighting the need for rational antibiotic selection based on these factors.
Objective To investigate the dynamic changes in regional cerebral oxygen saturation (rScO2) variability within the first week after birth in preterm infants and its relationship with different types of brain injury. Methods A retrospective study included 70 preterm infants with a gestational age of 28-32 weeks admitted to Cangzhou People's Hospital from August 2021 to June 2025. All infants underwent continuous near-infrared spectroscopy (NIRS) monitoring of rScO₂ within the first 7 days after birth. Based on cranial ultrasonography and magnetic resonance imaging findings, infants were divided into intraventricular hemorrhage (IVH) group (n=23), periventricular leukomalacia (PVL) group (n=18), hypoxic-ischemic encephalopathy (HIE) group (n=11), and control group (n=18). The coefficient of variation (CV), slope, peak, and trough values of rScO2 were calculated across different time windows, and their correlations with brain injury type and severity were analyzed. Results Within the first 7 days after birth, rScO2 CV showed a biphasic pattern characterized by an initial increase, followed by a decrease, then a second increase and decrease. The first high-variability period occurred at 0 to <24 hours, and the second at 72 to <120 hours. The CV at 6 hours after birth was positively correlated with brain injury severity (rs =0.72, P<0.001). The area under the receiver operating characteristic curve (AUC) for diagnosing brain injury using 6-hour CV was 0.862 (P<0.05). A combined predictive model incorporating CV values at 6, 24, and 72 hours achieved an AUC of 0.924 (P<0.05). Conclusions The variability of rScO2 within the first week after birth in preterm infants exhibits a biphasic fluctuation pattern. Different brain injury types show characteristic variability patterns, and early CV values can serve as sensitive indicators for early identification of brain injury.
Objective To understand the neuropsychological development status and catch-up characteristics of late preterm infants (LPI), and to explore the longitudinal association between parent-child interaction and neuropsychological development. Methods A retrospective cohort study was conducted on 888 children who completed regular follow-ups at corrected ages of 12 to 36 months at the Department of Child Healthcare of Guiyang Maternal and Child Health Hospital between January 2022 and August 2025. Participants were divided into LPI group (n=215) and full-term group (n=673) based on gestational age. Neuropsychological development and parent-child interaction were assessed at corrected ages of 12, 24, and 36 months using the Gesell Developmental Schedule and the Parent-Child Interaction Scale. Linear mixed-effects models were employed to examine the longitudinal effects of parent-child interaction on neuropsychological development. Results At corrected age 12 months, the LPI group showed the highest rate of developmental delay in the language domain (12.6%, 27/215), followed by gross motor delay (8.8%, 19/215). At corrected ages 12 and 24 months, the DQ scores of all developmental domains in the LPI group were significantly lower than those in the full-term group (P<0.05). By corrected age 36 months, except for language, no significant differences were found between groups in other domains (P>0.05). At corrected age 12 months, parent-child interaction was positively correlated with language DQ in the LPI group (B=0.172) and personal-social DQ in the full-term group (B=0.097) (P<0.05). At corrected age 24 months, parent-child interaction was positively correlated with all DQ domains in the LPI group (Badaptive behavior=0.282, Bgross motor=0.309, Bfine motor=0.227, Blanguage=0.448, Bpersonal-social=0.271, Btotal DQ=0.302). In the full-term group, correlations were found in gross motor (B=0.117), language (B=0.253), and total DQ (B=0.118) domains (P<0.05). At corrected age 36 months, parent-child interaction was positively correlated only with language DQ in the full-term group (B=0.216). Linear mixed-effects models showed significant positive predictive effects of parent-child interaction on language (β=0.09), personal-social (β=0.08), and total DQ (β=0.04) in both groups (P<0.05). Significant interaction effects of group × parent-child interaction were observed for gross motor (β=0.10), language (β=0.14), and total DQ (β=0.09) (P<0.05). Conclusions Neuropsychological development in late preterm infants lags behind that of full-term infants. Positive parent-child interaction effectively promotes neuropsychological development in late preterm infants.
Objective To study the trends and sex differences in the disease burden of preterm birth in China from 1990 to 2023, and to predict its future trajectory to inform prevention and control strategies. Methods Data from the Global Burden of Disease 2023 database were used to assess trends in incidence, mortality, and disability-adjusted life year (DALY) rates of preterm birth from 1990 to 2023. Joinpoint regression analysis was used to identify turning points in the temporal trends, and a GM(1,1) model was applied to forecast future incidence rates. Results In 2023, there were 645 000 preterm births and 6 000 deaths in China, resulting in 1.33 million DALYs. Compared with 1990, the incidence rate, age-standardized mortality rate, and age-standardized DALY rate decreased by 31.3%, 91.4%, and 87.2%, respectively. The decline in the incidence rate slowed notably after 2001, and the decline in the DALY rate weakened during 2020-2023. From 1990 to 2023, males in China consistently had higher incidence rate, age-standardized mortality rate, and age-standardized DALY rate of preterm birth than females. The GM(1,1) model predicts that the incidence rate of preterm birth will decline slowly from 7 172.6 per 100 000 in 2024 to 6 999.3 per 100 000 in 2040. Conclusions The disease burden of preterm birth in China shows a long-term decline, but the pace has recently slowed; over the next few years it is expected to remain on a slow downward trajectory, with a persistently higher burden in males than in females.
Objective To explore early warning indicators for extracorporeal membrane oxygenation (ECMO) in children with fulminant myocarditis (FM) and their association with prognosis. Methods Clinical data of 22 children with FM admitted to the Pediatric Intensive Care Unit of Hainan Women and Children's Medical Center from June 2019 to June 2025 were retrospectively analyzed. Patients were grouped by ECMO support (ECMO group, n=10; non-ECMO group, n=12) and by outcome (survival group, n=17; death group, n=5). Data on demographics, laboratory values, echocardiographic measurements, and treatments administered were collected. The predictive value of early warning indicators for initiating ECMO was assessed by receiver operating characteristic (ROC) curve analysis. Results Compared with the non-ECMO group, the ECMO group had lower left ventricular ejection fraction (LVEF) and fractional shortening (FS), and higher peak brain natriuretic peptide (BNP), peak vasoactive-inotropic score (VIS), peak lactate, and a higher proportion of interventricular septal and ventricular wall hypokinesis (all P<0.05). ROC analysis showed that peak BNP >21 650 pg/mL predicted the need for ECMO with a sensitivity of 80%, specificity of 82%, positive predictive value of 80%, negative predictive value of 60%, and an area under the curve of 0.771 (P<0.05). The overall mortality was 23% (5/22). Compared with survivors, non-survivors had lower Pediatric Critical Illness Score (PCIS), LVEF, and FS, and higher peak VIS, peak lactate, lactate level at 24 hours after treatment, and a higher rate of ECMO use (all P<0.05). Conclusions Peak BNP >21 650 pg/mL has early warning value for determining the need for ECMO support in children with FM. PCIS, LVEF, FS, VIS, and lactate are useful for assessing disease severity and prognosis. ECMO is a critical life-support modality for extremely severe FM.
Objective To investigate the correlation between serum heparin-binding protein (HBP) and other clinical indicators with the bronchoscopic lesion severity in children with Mycoplasma pneumoniae pneumonia (MPP), in order to understand their potential value in guiding diagnosis and treatment. Methods A retrospective analysis was conducted on 248 children with acute MPP admitted to the Department of Pediatrics, Affiliated Hospital of Xuzhou Medical University from December 2023 to September 2025. Patients were divided into severe lesion group (n=96) and mild lesion group (n=152) based on bronchoscopic findings. Clinical data including fever peak and duration, serum levels of HBP, C-reactive protein (CRP), D-dimer (DD), lactate dehydrogenase (LDH), and neutrophil percentage (N%) were collected. Statistical analyses were performed between groups, followed by correlation analysis between HBP levels and significant clinical indicators. Receiver operating characteristic (ROC) curve analysis was used to evaluate the predictive value of HBP and other indicators for bronchoscopic lesion severity. Results HBP levels in the severe lesion group were significantly higher than those in the mild lesion group (median: 36.2 ng/mL vs 22.8 ng/mL, P<0.001). The severe lesion group also exhibited higher peak fever, longer fever duration, and elevated CRP, DD, and LDH levels (all P<0.05). HBP showed positive correlations with fever duration, CRP, DD, LDH, and N% (rs =0.256, 0.302, 0.635, 0.327, 0.140, respectively; all P<0.05). ROC analysis demonstrated that HBP had the highest area under the curve (AUC=0.850) for predicting bronchoscopic lesion severity, followed by DD (AUC=0.832), CRP (AUC=0.784), LDH (AUC=0.780), fever duration (AUC=0.681), and N% (AUC=0.642). At a cut-off value of 28.9 ng/mL, HBP predicted severe lesions with 80.2% sensitivity and 79.6% specificity. Conclusions Serum HBP, CRP, DD, and LDH are significantly associated with the microscopic severity of bronchoscopic lesions in children with MPP. HBP shows superior predictive performance and may provide valuable clinical guidance for assessing lesion severity.
Objective To investigate the clinical features and treatment of children with primary ciliary dyskinesia (PCD), aiming to improve early recognition of the disease among pediatricians and reduce misdiagnosis and missed diagnosis. Methods A retrospective analysis was conducted on the clinical data of 24 children with PCD admitted to the Children's Medical Center of People's Hospital of Hunan Province from January 2014 to December 2025. Results Among the 24 children, there were 12 boys and 12 girls, aged from 2 months to 15 years. The median age of onset was 6 months, and the median age at diagnosis was 98 months. All patients presented with recurrent respiratory tract infections and chronic productive cough; 21 had chronic sinusitis, 9 had neonatal pneumonia, and 3 had visceral inversion. The most frequently detected bacteria were Haemophilus influenzae and Streptococcus pneumoniae. Bronchiectasis was identified in 16 cases, atelectasis in 10 cases, and 19 cases showed fishbone-shaped changes in the bronchial lumen. Nasal nitric oxide testing was performed in 21 children, with all values markedly decreased (2.4-27 nL/min). Fourteen children underwent genetic testing, with 12 testing positive for autosomal recessive mutations involving 9 genes including HYDIN, DNAH11, and TUBB4B. Airway management and long-term low-dose macrolide therapy were key in treatment. Conclusions Primary ciliary dyskinesia is a rare genetic disorder with early onset, often before 6 months of age. Children presenting with chronic productive cough combined with chronic sinusitis, bronchiectasis, abundant airway secretions, and visceral inversion warrant high suspicion for this disease.
Objective To investigate the value of combining Helicobacter pylori (HP) virulence factor typing with pepsinogen (PG) in assessing HP infection-related gastric mucosal injury in children. Methods A cross-sectional study enrolled children presenting with gastrointestinal symptoms at Wuxi Children's Hospital from August 2023 to December 2024. Based on gastroscopic pathology, participants were assigned to a mild injury group (n=66) or a moderate/severe injury group (n=51). Serum PG levels and HP virulence factor typing (type I/II) were examined to evaluate the diagnostic performance of combined testing for mucosal injury severity. Results The moderate/severe injury group had higher serum PGI and PGII levels than the mild injury group (P<0.05), and type I HP infection predominated (85.7%). Receiver operating characteristic curve analysis showed the following diagnostic performance for moderate/severe gastric mucosal injury: type I HP plus PGI positivity yielded an area under the curve (AUC) of 0.781, specificity 62.1%, and sensitivity 82.4%; type I HP plus PGII positivity yielded an AUC of 0.742, specificity 90.9%, and sensitivity 47.1%; simultaneous positivity for type I HP, PGI, and PGII yielded an AUC of 0.775, specificity 60.6%, and sensitivity 82.4%. Conclusions Serum PG levels and type I HP infection are closely associated with gastric mucosal injury severity. Their combined detection demonstrates good diagnostic performance for grading injury severity and provides a noninvasive strategy for clinical assessment of HP-related gastric mucosal damage in children.
Objective To evaluate the efficacy and safety of rituximab (RTX) in children with frequently relapsing nephrotic syndrome (FRNS) or steroid-dependent nephrotic syndrome (SDNS) after treatment with prednisone combined with standard doses of mycophenolate mofetil and a calcineurin inhibitor. Methods A retrospective analysis was conducted on clinical data from pediatric patients admitted to the Department of Pediatric Nephrology, Peking University First Hospital from January 1, 2014 to December 31, 2023. These patients had received prednisone plus standard doses of mycophenolate mofetil and a calcineurin inhibitor but still presented with FRNS or SDNS. Outcomes included remission rate, relapse rate, reduction or discontinuation of steroids and oral immunosuppressants after RTX treatment, and adverse events following RTX. Results Eighteen patients were enrolled, receiving 63 courses of RTX treatment. None presented with FRNS or SDNS after RTX treatment. Among them, 11 patients experienced no relapse from the first RTX dose to the last follow-up. After RTX administration, the duration of use of all immunosuppressants and the relapse frequency were significantly reduced (P<0.05). Most RTX-related adverse events were mild. Conclusions RTX demonstrates good efficacy and safety in children with FRNS or SDNS after treatment with three immunosuppressive agents.
Objective To investigate the immunological characteristics and predictive factors of chronic graft-versus-host disease (cGVHD) in children after haploidentical allogeneic hematopoietic stem cell transplantation (Haplo-HSCT) to provide a basis for early intervention. Methods A retrospective analysis was conducted on clinical and laboratory data of 64 children undergoing Haplo-HSCT. Peripheral blood lymphocyte subsets, immunoglobulins, and key components of the complement system were measured. Univariable and multivariable logistic regression analyses were used to identify predictors. Results The percentage of helper/inducer T lymphocytes and complement C3 levels were significantly higher in the cGVHD group (n=37) compared to the non-cGVHD group (n=27) (P<0.05), while the percentages of B cells and natural killer (NK) cells were significantly lower (P<0.05). Multivariate logistic regression identified the percentage of helper/inducer T lymphocytes (OR=1.144, P=0.012) and complement C3 level (OR=29.758, P=0.037) as independent predictors of cGVHD. Conclusions The development of cGVHD is closely associated with T-cell homeostasis imbalance, B-cell functional exhaustion, and abnormal activation of the complement system. The percentage of helper/inducer T lymphocytes and complement C3 levels may serve as potential predictive indicators for cGVHD occurrence.
Objective To investigate whether mesenchymal stem cell-derived exosomes (MSC‑Exo) regulate ferroptosis by modulating the JAK2/STAT3 signaling pathway to alleviate hypoxia/re-oxygenation (H/R)-induced oligodendrocyte injury. Methods Oligodendrocytes were randomly divided into control, H/R, and MSC‑Exo groups. Except for the control group, cells underwent H/R treatment. Western blot analysis was used to detect protein expression of oligodendrocyte markers (MAG, Olig2, MOG, MBP), exosome markers (TSG101, CD81, CD63), endoplasmic reticulum protein (calnexin), ferroptosis-related proteins (GPX4, TFR), and JAK2/STAT3 signaling pathway components (JAK2, p-JAK2, STAT3, p-STAT3). Cell viability was assessed by CCK-8 assay. Spectrophotometric methods were employed to measure caspase-3 activity, glutathione (GSH) content, Fe2+ levels, and malondialdehyde (MDA) concentrations. Apoptosis and reactive oxygen species (ROS) production were analyzed by flow cytometry using Annexin-V/PI double staining. To verify the role of JAK2/STAT3 pathway in MSC‑Exo-mediated inhibition of ferroptosis, a JAK2 inhibitor (JAK2i) was applied, and cells were assigned to H/R, MSC‑Exo, JAK2i, and JAK2i + MSC‑Exo groups. The protein expression levels of GPX4, TFR, p-JAK2, and p-STAT3, as well as cell viability, GSH, Fe2+, MDA, apoptosis, and ROS production, were determined using the aforementioned methods. Results Compared with the control group, the H/R group showed significantly decreased cell viability and GSH content, and increased ROS, MDA, Fe2+, and apoptosis (P<0.05). Protein levels of TFR, p-JAK2, and p-STAT3 were significantly upregulated, while GPX4 was downregulated (P<0.05). Compared with the H/R group, both JAK2i and MSC‑Exo treatments significantly inhibited p-JAK2, p-STAT3, and TFR expression, upregulated GPX4 expression, increased cell viability and GSH content, and reduced ROS, MDA, Fe2+, and apoptosis levels (P<0.05). Conclusions MSC‑Exo inhibit ferroptosis by suppressing the JAK2/STAT3 signaling pathway, thereby alleviating H/R-induced oligodendrocyte injury.
Objective To investigate the effect of miR-155-5p regulation of the TLR4/MAPK/NF-κB pathway on inflammatory response, coronary artery lesion, and immune function in mice with Kawasaki disease (KD). Methods Sixty male BALB/C mice were randomly assigned to six groups (n=10 each): healthy, KD, miR-155-5p agomir, agomir-negative control (agomir-NC), miR-155-5p antagomir, and antagomir-negative control (antagomir-NC). KD models were established by intraperitoneal injection of Lactobacillus casei cell wall extract in all groups except the healthy group. Levels of interleukin (IL)-6, IL-1β, and tumor necrosis factor (TNF)-α were measured by ELISA. Flow cytometry was used to determine the proportions of CD3+, CD4+, and CD8+ T lymphocyte subsets and the CD4+/CD8+ ratio. Coronary artery diameter was assessed by high-frequency ultrasound, and histopathological changes were observed by hematoxylin-eosin staining. Endothelial cell apoptosis in coronary tissue was detected with TUNEL staining. Expression levels of nuclear factor kappa-B (NF-κB) p65, phosphorylated NF-κB p65 (p-NF-κB p65), Toll-like receptor 4 (TLR4), and p38 mitogen-activated protein kinase (MAPK) proteins were analyzed by Western blot. Results Compared with the healthy group, the KD group showed coronary arterial wall thickening, endothelial shedding, extensive inflammatory cell infiltration, disordered smooth muscle layer arrangement, vascular dilation, and lumen stenosis. The miR-155-5p agomir group exhibited aggravated coronary inflammation, wall thickening, and lumen stenosis versus the KD group, whereas the miR-155-5p antagomir group showed attenuated inflammation and wall thickening, improved smooth muscle arrangement, and reduced stenosis. The KD group demonstrated increased IL-6, IL-1β, TNF-α, CD4+ T cell percentage, CD4+/CD8+ ratio, coronary artery diameter, endothelial apoptosis rate, and p-NF-κB p65, TLR4, and p38 MAPK protein expression compared to the healthy group (all P<0.05), with decreased CD3+ and CD8+ T cell percentages (P<0.05). No significant differences were observed among the KD, agomir-NC, and antagomir-NC groups. Compared with the KD group, the miR-155-5p agomir group showed further increased inflammatory cytokines (IL-6, IL-1β, and TNF-α), CD4+ T cell percentage, CD4+/CD8+ ratio, coronary diameter, endothelial apoptosis, and protein expression of p-NF-κB p65, TLR4, and p38 MAPK, while reduced CD3+ and CD8+ T cell percentages (all P<0.05). Conversely, the miR-155-5p antagomir group showed significant reductions in inflammatory cytokines, protein expression of p-NF-κB p65, TLR4, and p38 MAPK, CD4+ T cell percentage, CD4+/CD8+ ratio, coronary artery diameter, and endothelial apoptosis, as well as significant increases in CD3+ and CD8+ T cell percentages (all P<0.05). Conclusions Overexpression of miR-155-5p exacerbates inflammatory response, coronary artery lesions, endothelial cell apoptosis, and immune dysfunction in KD, potentially through modulation of the TLR4/MAPK/NF-κB pathway. Inhibition of miR-155-5p may reverse these pathological changes.
A 10-year-old girl diagnosed with hyper-IgE syndrome for more than six years developed dizziness and symmetrical progressive limb weakness one week prior to hospital admission, occurring 4 months after allogeneic hematopoietic stem cell transplantation. On post-transplant day 121, dizziness and progressive, symmetric limb weakness appeared. Cerebrospinal fluid analysis revealed albuminocytologic dissociation. Electromyography confirmed multiple peripheral nerve lesions, consistent with the diagnosis of Guillain-Barré syndrome. Intravenous immunoglobulin therapy showed limited efficacy, whereas corticosteroid therapy produced significant clinical improvement. Neurological symptoms fully resolved after treatment; however, severe chronic graft-versus-host disease occurred subsequently. Based on this case, related literature was reviewed and summarized to provide references for early diagnosis, mechanistic investigation, and treatment options.
A full-term male neonate, aged 2 days, was admitted for jaundice lasting more than 2 days. On the day of admission, he developed sudden respiratory arrest and shock; vital signs were restored after active resuscitation. The acylcarnitine profile showed markedly elevated long-chain acylcarnitines, including C16∶1, C18, and C18∶1, indicating a fatty acid oxidation disorder and raising suspicion for carnitine-acylcarnitine translocase deficiency or carnitine palmitoyltransferase II deficiency. Whole-exome sequencing identified compound heterozygous variants in SLC25A20: c.823C>T (p.Arg275Ter) and c.199-10T>G, classified as likely pathogenic and pathogenic, respectively, confirming carnitine-acylcarnitine translocase deficiency. On day 50 of life, infection precipitated a metabolic crisis with recurrent shock; considering the poor prognosis, the family chose to withdraw treatment, and the patient died on day 52 of life. Carnitine-acylcarnitine translocase deficiency is a congenital fatty acid oxidation disorder. Neonatal fatty acid oxidation disorders typically have acute onset, rapid progression, and atypical manifestations, predisposing to misdiagnosis and poor prognosis. This case may serve as a reference for the clinical recognition and management of neonatal fatty acid oxidation disorders.
Mitochondrial cardiomyopathy (MCM) is a heterogeneous group of disorders characterized by abnormal myocardial structure and/or function caused by defects in genes encoding the oxidative phosphorylation chain. This review systematically summarizes molecular genetic advances regarding nuclear gene mutations associated with pediatric MCM, focusing on mutations affecting pathways including respiratory chain complex subunits and assembly factors, coenzyme Q10 biosynthesis, mitochondrial DNA maintenance and expression, lipid metabolism, iron-sulfur cluster metabolism, apoptosis regulation, and mitochondrial dynamics. These nuclear gene mutations contribute to myocardial pathological changes by disrupting key processes such as mitochondrial energy metabolism, membrane stability, and signal transduction. The review provides a theoretical basis for precise clinical diagnosis and the exploration of potential molecular targets in pediatric MCM.
