Maternal high-fat diet (HFD) increases the risk of metabolic disorders in offspring. Placental inflammation acts as a critical mediator with poorly addressed etiology. Recently HFD-induced gut dysbiosis is demonstrated to be a key driver of systemic inflammation. Whether inflammatory signals triggered by HFD-induced gut dysbiosis are transmitted to the placenta via the maternal-fetal axis warrant further investigation. This study aims to elucidate the mechanistic connection between maternal gut dysbiosis and placental inflammation, thereby offering insights into microbiota-mediated developmental origins of metabolic diseases in offspring. Female C57BL/6 mice were exposed to high fat diet (HFD) for 5 weeks prior to mating with male mice. Gut microbiota was profiled by using 16 S rRNA sequencing and fecal short-chain fatty acids (SCFAs) were quantified by GC-MS from HFD pregnant mice at gestational day 18.5 (G18.5). Mice were sacrificed at G18.5, and placenta histopathological analysis as well as inflammatory markers and lipopolysaccharide (LPS) level were analyzed. Anti-inflammatory effects of butyrate were evaluated in vitro by using HTR-8/Svneo cells and in vivo through gestational supplementation (0.3 mg/g body weight) in HFD-fed dams. Maternal HFD exposure induced significant placental inflammation as well as hepatic steatosis in the offspring. HFD-fed dams exhibited distinct gut dysbiosis with reduced fecal and serum SCFAs, which was accompanied by elevated placental LPS levels and exacerbated inflammatory responses. Butyrate treatment suppressed the expression of inflammatory cytokines in vitro through down-regulating the phosphorylation of NF-κB, ERK1/2 signaling pathways via G-protein-coupled receptor 41 (GPR41). Furthermore, gestational butyrate intervention effectively alleviated placental inflammation and mitigated fetal hepatic lipid deposition in HFD-exposed offspring. Placental inflammation caused by maternal HFD is closely associated with gut microbiota dysbiosis. Butyrate supplementation during gestation reduces placental inflammation and ameliorated offspring hepatic steatosis, highlighting the therapeutic potential of butyrate for mitigating the adverse metabolic programming effects upon maternal HFD exposure.

Purpose: To investigate the role of Ultra Micro Angiography (UMA) in evaluating Crohn's disease (CD) activity in pediatric patients. Materials and Methods: In this prospective study, pediatric patients diagnosed with CD were included. A Resona A20 ultrasound machine (Mindray Medical Systems, China) was used for all patients. The semi-quantitative scores of color Doppler flow imaging (CDFI) and UMA on the thickest segments of bowel walls were assessed according to Limberg score. The Pediatric Crohn’s Disease Activity Index (PCDAI) was the reference standard to evaluate CD activity. ROC analysis was performed to compare the diagnostic efficiency of Limberg scores between CDFI and UMA. Results: Sixty pediatric CD patients were included and divided into three groups according to PCDAI: Group 1, inactive CD (n = 37); Group 2, mild CD (n = 13); and Group 3, moderate to severe CD (n = 10). By UMA, significant differences of Limberg scores were found between Groups 1 and 3 (P < 0.001), Groups 2 and 3 (P = 0.044), and Groups 1 and 2 (P = 0.029). The combined AUROC of B-mode ultrasound (BMUS) features and UMA features in pediatric CD activity evaluation was 0.934, with 87.0% sensitivity and 94.6% specificity, which was significantly higher than that of the combined BMUS features and CDFI ( P = 0.048). Conclusion: By sensitively depicting the low velocity blood flow signals and displaying microvascular morphologies of the bowel wall, UMA is an effective noninvasive imaging method enabling semi-quantitative evaluation of the activity of CD in pediatric patients.

Short bowel syndrome (SBS) in children often requires long-term parenteral support (PS), predisposing to liver disease, catheter-related complications, and reduced quality of life. Teduglutide has shown promise in enhancing intestinal adaptation and reducing PS dependence in children with SBS. A narrative review was conducted in PubMed, CNKI, and WANFANG databases to identify studies published from January 2017 to February 2025 on teduglutide use in SBS pediatric patients. Outcomes assessed included PS volume reduction, parenteral nutrition (PN) weaning, growth, stool output, citrulline levels, and safety. Twenty-five studies met the inclusion criteria, encompassing 886 children with SBS who received teduglutide for durations of 12–144 weeks. Most studies used 0.05 mg/kg/day dosing regimen. Reported outcomes consistently demonstrated reductions in PN volume (≥ 20

Background: Kölliker’s organ (KO) support cells undergo orderly, time-dependent degeneration that is essential for auditory development and is accompanied by precisely regulated autophagic activity; however, the molecular hierarchy linking autophagy to this remodeling remains obscure. This study aimed to elucidate the regulatory mechanisms connecting autophagic flux to lysosomal biogenesis and auditory function during cochlear development. Method: We established an Atg5flox/flox; Sox2Cre+ mouse model with deletion of the autophagy gene Atg5 in cochlear-supporting cells. Auditory function was assessed via Auditory Brainstem Response (ABR) testing. Transcriptomic profiling of the neonatal basilar membrane was performed to screen for downstream targets. Mechanistic validation included spatiotemporal immunofluorescence mapping (E18–P30) and in vitro functional assays using siRNA-mediated knockdown and lysosomal tracking. Results: At 2 months of age, Atg5flox/flox; Sox2Cre+ mice exhibited moderate-to-severe sensorineural hearing loss accompanied by significant outer hair cell loss. Bulk RNA-seq of the basilar membrane identified fork-head box A3 (Foxa3) as a significantly downregulated transcription factor within the lysosomal–autophagy network. Spatiotemporal immunolabelling from embryonic day 18 to postnatal day 30 revealed that FOXA3 expression becomes progressively restricted to KO cells during postnatal development, with ATG5 loss reducing FOXA3 protein levels by 62.4%. In vitro, deficiency of either Atg5 or Foxa3 in primary KO cells resulted in comparable reductions in LAMP1-positive puncta. Conclusions: These findings support a model wherein the ATG5-FOXA3 axis contributes to lysosomal biogenesis in developing KO cells, with implications for understanding mechanisms of congenital sensorineural hearing loss.

Abstract Objectives To investigate the role of super-resolution contrast-enhanced ultrasound (SR-CEUS) in evaluating inflammatory activity in Crohn’s disease (CD). Materials and methods In this prospective study, we consecutively enrolled CD patients confirmed by clinical and ileocolonoscopic findings. All patients underwent B-mode ultrasound (BMUS), color Doppler flow imaging (CDFI), CEUS, and SR-CEUS within 1 week of ileocolonoscopy. SR-CEUS quantitative parameters were recorded, with simple endoscopic score for Crohn’s disease (SES-CD) as the reference standard. Diagnostic performance was evaluated using receiver operating characteristic (ROC) curve analysis. Results 52 consecutive CD patients were categorized into active (SES-CD ≥ 3, n = 30) and inactive (SES-CD < 3, n = 22) groups. SR-CEUS clearly visualized the intramural microvascular architecture of the bowel wall. SR-CEUS yielded an AUC of 0.903 with 86.4% sensitivity (95% CI: 66.7–95.3%), and 86.7% specificity (95% CI: 70.3–94.5%) for assessing inflammatory activity, significantly outperforming both CDFI (p = 0.014) and CEUS (p = 0.045), while showing no statistically significant difference in comparison with BMUS (p = 0.988). Furthermore, the combination of BMUS and SR-CEUS achieved an AUC of 0.967 for diagnosing active CD, with 100% sensitivity (95% CI: 85.1–100%) and 86.7% specificity (95% CI: 70.3–94.7%), which was significantly superior to BMUS alone (p = 0.038). Conclusions SR-CEUS provides quantitative microvascular perfusion maps that display vascular density, flow velocity, and direction, offering a non-invasive tool for evaluating inflammatory activity in CD. Critical relevance statement This study demonstrates that super-resolution contrast-enhanced ultrasound (SR-CEUS) provides a novel, non-invasive approach for quantitative evaluation of inflammatory activity in Crohn’s disease (CD), which serves as a valuable supplement or alternative to endoscopy in routine monitoring. Key Points An unmet need remains for accurate, non-invasive tools to assess CD activity. SR-CEUS outperforms conventional CDFI and CEUS in distinguishing active from inactive CD. Combining SR-CEUS with standard BMUS yields excellent diagnostic accuracy, establishing this combined approach as a promising non-invasive alternative for monitoring inflammatory activity in CD patients. Graphical Abstract

Short bowel syndrome (SBS) imposes a substantial burden on pediatric patients and their caregivers. Teduglutide, a glucagon-like peptide-2 (GLP-2) analog, promotes intestinal adaptation by enhancing villus hyperplasia and crypt deepening. This study aimed to evaluate its impact on the health-related quality of life (HRQoL) of children with SBS and their caregivers. In this matched case-control study, 24 children with SBS were enrolled (8 received teduglutide, 16 served as controls). Child HRQoL was assessed using the PedsQL™ Infant Scales and 4.0 Generic Core Module; caregiver HRQoL was evaluated with the PedsQL™ 3.0 Family Impact Module. HRQoL scores were compared between groups using independent t-tests and within the teduglutide group (pre- vs. post-treatment) using paired t-tests. Baseline characteristics were comparable between groups (p > 0.05). The teduglutide group had a significantly shorter residual intestinal length (43.3 vs. 62.1 cm, P = 0.022). Treatment reduced parenteral nutrition (PN) calorie intake from 53.13 to 28.12 kcal/kg/day (P = 0.036). Teduglutide significantly improved children’s total HRQoL (63.88 to 71.89, P = 0.046) and psychosocial scores (68.18 to 75.34, P = 0.027), reaching levels comparable to controls (73.53, P = 0.806; 75.84, P = 0.946, respectively). Caregivers’ HRQoL also increased significantly (57.55 to 68.32, P = 0.049), surpassing that of the control group (56.80, P = 0.298). Teduglutide significantly enhances HRQoL in children with SBS and their caregivers, potentially through intestinal rehabilitation and reduced PN dependence.

Short bowel syndrome (SBS) is the most common cause of intestinal failure, requiring long-term of parenteral nutrition support. The objectives of this study were to evaluate health-related quality of life (HRQoL) of children with SBS and their caregivers, as well as the association with burden and depression of caregivers. Data were collected through a cross-sectional study using the proxy-reported PedsQL 4.0 Generic Core Module (PedsQL GCM) and PedsQL 3.0 Family Impact Module (FIM) to assess the HRQoL of children and their caregivers. Differences in HRQoL scores across subgroups were assessed using two-sample t-tests, one-way ANOVA. The Zarit Burden Interview (ZBI) and the Patient Health Questionnaire (PHQ-9) were employed to assess the burden and depression of the caregivers. Ninety-six children with SBS and their caregivers participated in the study. Compared with established norms for healthy children, children with SBS aged 1 to 24 months exhibited significantly lower scores in the physical health summary (p < 0.01). Children with SBS aged 2 to 18 years scored an average of 5.99 points lower in the psychosocial health summary (p = 0.01) and 4.56 points lower in the total score (p = 0.039). Families of a child with SBS exhibited significantly lower scores across nearly all dimensions of the PedsQL3.0 FIM compared with those of healthy controls (p < 0.05). In multivariate logistic regression analysis, younger age, male gender, long duration of hospitalization, perceived financial burden were independently associated with a decreased total score on the PedsQL FIM (p < 0.05). The Spearman correlation analysis revealed that the PHQ-9 and the ZBI total score were negatively correlated with PedsQL 4.0 GCM scale score as well as total scale (p < 0.02) among children aged 2–18 years. Conclusion: This study provides a comprehensive analysis of HRQoL among children with SBS and their caregivers and identifies multiple associated predictors. The burden of caregivers and depression affect the HRQoL of children with SBS. We highlight the importance of providing increased attention and support not only to the patients but also to their caregivers.

To evaluate the clinical significance of the ileocecal valve (ICV) in pediatric short bowel syndrome (SBS) regarding parenteral nutrition (PN) dependence, nutritional status, and complications. A retrospective cohort study was conducted at Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, involving 140 pediatric SBS patients. Patients were divided into ICV-preserved (n = 80) and ICV-absent (n = 60) groups. Outcomes assessed included PN weaning success, PN duration, intestinal failure-associated liver disease (IFALD), catheter-related bloodstream infections (CRBSI), deficiencies in vitamin D and trace elements, and liver function parameters. Compared with the ICV-absent group, ICV-preserved patients had a higher PN weaning success rate (88.0

Despite recent advances in bacterial profiling across the three anatomical types of pediatric short bowel syndrome (SBS), the gut multi-kingdom remains unexplored. We characterized the four-kingdom gut microbiota using modified DNA extraction and deep shotgun metagenomic sequencing of fecal samples from 26 healthy controls and 34 pediatric SBS patients comprising three types (8 SBS I, 15 SBS II, and 11 SBS III). Overall, children with SBS exhibited a significant reduction in α-diversity compared with controls, with no difference observed among SBS types. Compared with controls, the proportion of archaea was significantly decreased in all SBS types, while bacteria, fungi, and viruses remained similar across types. Different types of SBS exhibited distinct microbial signatures: SBS I was enriched with pathogens (such as species from the Streptococcus and Klebsiella genera); SBS II was marked by a depletion of beneficial short-chain fatty acid-producing species (such as Faecalibacterium prausnitzii); and SBS III displayed loss of bile acid-metabolizing species, alongside a significant expansion of Lactobacillus species. Ecological networks were rewired in SBS, with disruption pronounced in SBS I. Functional analysis revealed that core metabolic pathways were markedly suppressed in SBS I compared with controls. Integrated correlation analyses revealed ileocecal valve loss as the primary determinant of SBS I microbial profiles, linking it to impaired secretory functions and hepatic injury. Our findings deciphered type-specific alterations in the multi-kingdom microbiota and their functional profiles, providing the basis for designing precision microbial therapies aimed at improving long-term outcomes for children with SBS.IMPORTANCEPediatric short bowel syndrome (SBS) is a primary cause of intestinal failure, yet prior research characterizing the gut microbiota has focused almost exclusively on bacteria. In this study, we characterized the multi-kingdom microbiome (including bacteria, fungi, archaea, and viruses) across the three anatomical types of pediatric SBS. We found that different SBS subtypes showed distinct microbial patterns: SBS I was enriched in pathogens, SBS II exhibited a depletion of beneficial short-chain fatty acid-producing species, and SBS III was characterized by a loss of bile acid-metabolizing microbes with an expansion of Lactobacillus. Functional analysis showed that SBS I had markedly suppressed core metabolic pathways, and integrated analyses identified the ileocecal valve as a key determinant of microbial gene profiles, with its loss linked to impaired secretion and liver injury. These findings provide a comprehensive multi-kingdom view of the pediatric SBS microbiome and highlight anatomical determinants shaping host-microbiome dysfunction.

Objective·To explore the safety and efficacy of a single high-dose intramuscular injection of vitamin D in children with short bowel syndrome (SBS) complicated by vitamin D insufficiency/deficiency.Methods·The retrospective study included 32 children with SBS complicated by vitamin D insufficiency/deficiency. When the serum 25-hydroxyvitamin D [25-(OH)D] concentration was lower than 50 nmol/L, a single intramuscular injection of 200 000 IU vitamin D2 was administered. Clinical data, including gender, age, primary disease, remaining length of the small intestine, presence of the ileocecal valve, and colonic integrity, were collected. Skin conditions at the intramuscular injection site and the levels of serum 25-(OH)D, calcium, phosphorus, and alkaline phosphatase before and one month after vitamin D supplementation were recorded.Results·The median age at enrollment was 5.0 (3.0, 7.0) months. Intestinal atresia and necrotizing enterocolitis were the main causes of SBS, accounting for 28.13% and 21.88%, respectively. The average length of the remaining small intestine was (57.27±24.55) cm. Before vitamin D supplementation, 65.63% (21/32) of children had vitamin D deficiency and 34.38% (11/32) had vitamin D insufficiency. After supplementation, serum 25-(OH)D levels increased significantly compared with baseline (53.10 nmol/L vs. 28.87 nmol/L, P<0.001). In children with vitamin D insufficiency, the serum 25-(OH)D levels increased from 37.30 nmol/L to 58.51 nmol/L (P=0.010), while in those with vitamin D deficiency, the levels increased from 26.91 nmol/L to 44.82 nmol/L (P<0.001). Overall, 62.50% (20/32) of children achieved normal serum 25-(OH)D levels. Moreover, no complications, including vitamin D toxicity, hypercalcemia, skin induration, or local infection, were observed in any of the children.Conclusion·A single high-dose (200 000 IU) intramuscular injection of vitamin D can safely and effectively improve the vitamin D level in children with SBS complicated by vitamin D insufficiency/deficiency.

The critical role of group 2 innate lymphoid cells (ILC2s) in host defense and mucosal inflammation has been well established, yet the mechanisms underlying ILC2 survival and death remain unknown. Here, we report that ILC2s are vulnerable to ferroptosis, as evidenced by an abundance of ferroptosis signature genes and the accumulation of lipid peroxidation in ILC2s. Ablation of glutathione peroxidase 4 (GPX4) in ILC2s (Il5Cre/+Gpx4f/f mice) resulted in ferroptosis of ILC2s and diminished their responses. The increase in IFN-γ signaling-enhanced oxidative stress represents the mechanism underlying GPX4 ablation-induced ILC2 ferroptosis. Importantly, Il5Cre/+Gpx4f/f mice exhibited increased susceptibility to DSS-induced colitis. Clinically, ILC2s from inflammatory bowel disease (IBD) patients exhibit reduced GPX4 expression and increased lipid peroxidation. These observations revealed a previously unrecognized role of ferroptosis in ILC2 homeostasis, providing a promising therapeutic opportunity for mucosal inflammatory disorders.

Dietary macronutrients—proteins, lipids, and carbohydrates—influence the pathogenesis of inflammatory bowel disease (IBD) through distinct but interconnected metabolic pathways that extend beyond their roles as energy substrates. This narrative review synthesizes current evidence on how each macronutrient class modulates gut microbiota composition, intestinal barrier integrity, and mucosal immune responses. In the protein domain, the study examines how amino acid metabolism, particularly the tryptophan–kynurenine–indole axis and the arginine–inducible nitric oxide synthase–arginase balance, serves as a regulatory interface between microbial signals and immune cell function, and evaluates the clinical potential of targeted amino acid supplementation. In the lipid domain, a multi-level cascade is traced from phospholipid-dependent barrier structure through the pro-inflammatory/pro-resolving lipid mediator network to immune cell lipid reprogramming, and the study discusses how systemic lipoprotein abnormalities both reflect and amplify intestinal inflammation. In the carbohydrate domain, the study distinguishes between fermentable fiber and high-glycemic carbohydrates, and presents a dual-pathway model in which excess sugar drives IBD through two parallel routes: a microbiota-dependent pathway involving mucus depletion, barrier breach, and short-chain fatty acid deprivation; and a microbiota-independent pathway that directly impairs the metabolism of colonic epithelial stem cells. Throughout the study the emphasis is on the bidirectional nature of diet–inflammation interactions and identifies convergent mechanisms across macronutrient classes. The study concludes by outlining the translational challenges that must be addressed—cross-nutrient interactions, causal inference, and disease-stage-specific interventions—to move from generic dietary guidance toward mechanism-informed, personalized nutritional strategies for IBD, and highlights the need for well-designed intervention studies that test these strategies in defined patient subsets.

BACKGROUND:Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal motility disorder with considerable genetic heterogeneity. Nevertheless, genetic etiology in a substantial proportion of the patients remains unknown. This study aimed to identify the underlying genetic cause in a child with unexplained PIPO and to establish a novel disease gene associated with this condition. METHODS:Whole-exome sequencing was performed in a PIPO pedigree negative for mutations in known causative genes. The effects of the variant identified on protein expression were evaluated by Western blotting. A knock-in mouse model bearing the patient-specific variant was generated using CRISPR/Cas9. Intestinal motility was evaluated by carmine red transit assay. The contractile function of primary mouse intestinal smooth muscle cells (MISMCs) was assessed by collagen gel contraction assays. RESULTS:We identified an extremely rare, evolutionarily conserved de novo missense variant (c.20A > G, p.N7S) in the patient's CNN2 gene. This gene encodes a protein belonging to the calponin (CaP) family, which plays a critical regulatory role in smooth muscle contraction. Cnn2N7S/N7S mice exhibited significantly prolonged gastrointestinal transit time, recapitulating the intestinal dysmotility phenotype. Functional analyses revealed that the variant significantly impaired MISMC contractile function in a gene dosage-dependent manner. CONCLUSION:Our study revealed that a variant in CNN2 causes intestinal dysmotility in a PIPO patient and mouse model, establishing CNN2 as a novel disease gene. These findings provide a molecular diagnosis for the affected patient, expands the genetic spectrum of PIPO, and reveals an essential role of calponin 2 in the regulation of intestinal motility.

Human milk (HM) bioactive components can have immune modulatory functions, impact the gut microbiome, and may result in functional benefits when added to infant formula (IF). In this single-arm, prospective, intervention study, we tested the effectiveness of an IF with a whey protein concentrate co-enriched in α-lactalbumin, milk fat globule membrane (MFGM), and Sn-2 palmitate resulting in protein and lipid profiles observed in HM. The outcomes tested were feeding tolerance, Bifidobacteria abundance, and intestinal and immune health of Chinese infants. Predominantly formula-fed (FF) and breastfed (BF) infants were enrolled between 3 and 28 days and assigned to the FF (N = 60) or BF (N = 60) group, per their feeding practice, for 6 weeks. The primary endpoint was Infant Gastrointestinal Symptom Questionnaire (IGSQ) index score assessed using a validated IGSQ-13 questionnaire after 6 weeks of intervention; non-inferiority of FF vs BF was tested. Secondary endpoints included fecal Bifidobacteria abundance assessed using shotgun metagenomics sequencing; fecal short chain fatty acids (SCFAs) analyzed by ultra-performance liquid chromatography-tandem mass spectrometry; fecal markers of immune response, inflammation, intestinal barrier integrity (secretory immunoglobulin A sIgA), cytokines, calprotectin, α1 antitrypsin, lipocalin-2) assessed using enzyme-linked immunosorbent assay; stool consistency assessed using gastrointestinal (GI) diary; anthropometric assessments; quality of life; physician reported adverse events; and use of medications. Good GI tolerance was observed in both groups at V2 (mean ± SD IGSQ score FF: 19.9 ± 7.4; BF: 16.8 ± 4.2); difference of means 1.35 [95

PURPOSE:Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS; OMIM:619431) is a congenital disorder of the urinary and digestive systems that is caused by contractile dysfunction of smooth muscles. Recent studies have shown that ACTG2(HGNC:145) is the main gene involved in the pathogenesis of this disease. Herein, we aimed to investigate the correlation between the Actg2D245G mutation and disease phenotypes. METHODS:We established an Actg2D245G mutant mouse model using the CRISPR/Cas9 system and performed voluntary urination tests, gastrointestinal (GI) motility analysis, collagen gel contraction, G-actin/F-actin ratio analysis, and three-dimensional structural simulations. RESULTS:Actg2D245G mutant mice exhibited weaker intestinal motility. The collagen gel contraction experiment revealed diminished contractility of smooth muscle cells, and G-actin/F-actin ratio analysis indicated impaired actin polymerization. Three-dimensional structural simulations demonstrated disrupted hydrogen bonds within the D245G mutant protein. Furthermore, intestinal and bladder dysfunctions caused by the Actg2D245G mutation were milder than those caused by the Actg2R257C mutation in mice. CONCLUSION:The Actg2D245G mutation affects intestinal motility by impairing actin polymerization and reducing cell contraction. The Actg2D245G mutation leads to milder disease phenotypes than the Actg2R257C mutation.

Coxsackie and adenovirus receptor-like membrane protein (CLMP) mutation is identified as a genetic risk factor of congenital short bowel syndrome (CSBS). However, the specific pathogenic mechanism remains unclear. This study aimed to explore the clinical manifestations, genetic characteristics, and molecular mechanisms underlying CSBS caused by CLMP mutations. Whole-exome sequencing was performed to determine the pathogenic gene mutations in children with CSBS and their family members. In addition, a zebrafish model was established by microinjecting morpholinos into zebrafish embryos to investigate the role of clmp in intestinal embryonic development. This was investigated by measuring the length of zebrafish, evaluating gastrointestinal motility, and performing qRT-PCR assays. Two children with CSBS had CLMP mutations, one with a c.244C>T (p.R82*) mutation and exons 3-5 deletion, and the other with a c.23T>A (p.L8*) mutation and exons 3-5 deletion. After knocking down clmp expression in zebrafish embryos, the intestinal length and the gastrointestinal motility decreased. Furthermore, the expression of smooth muscle-associated genes decreased significantly. Additionally, clmp mRNA partially rescued zebrafish defects caused by clmp morpholino knockdown. Clmp knockdown decreased intestinal transport dynamics and expression of smooth muscle-related genes in zebrafish. CLMP is expected to be a potential gene therapeutic target for CSBS.

Objective:This aims to investigate the diagnostic and evaluative value of MRI for lymphatic malformations in the head, neck, and facial regions of children. Methods:A retrospective analysis was conducted on the MRI imaging data of 31 cases of head, neck, and facial lymphatic malformations in children admitted to the Department of Otolaryngology, Head and Neck Surgery, Children's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, from January 2022 to January 2024. Results:The MRI images of this group of cases primarily displayed irregular morphology（80.6%, 25/31）, thin-walled cysts（80.6%, 25/31）, and compression of surrounding tissues. The boundaries were clear（100%, 31/31）, with characteristics of invasive and drill-like growth（93.5%）. The cyst walls or internal septa exhibited high signal intensity on T1WI, low signal intensity on T2WI, and mild to moderate enhancement（100%）. The contents of the cysts showed low signal intensity on T1WI, high signal intensity on T2WI, and no enhancement（35.5%, 11/31）. Mixed signals with varying degrees of enhancement were observed in 20 cases（64.5%）. There were 29 cases of multilocular cysts（93.5%, 29/31）, and 11 cases of fluid-fluid levels（35.5%）. The MRI diagnostic accuracy for this group of cases was 100%. Conclusion:Lymphatic Malformations of head, neck and facial region in children have very characteristic features on MRI, such as typical thin wall, clear boundaries, irregular shapes, invasive growth, no enhancement, multilocular cystic masses, fluid-fluid level, etc. Furthermore, it is more appropriate for children with lymphatic malformations owing to its non-radiation and non-invasive benefits. Diagnosing lymphatic malformations in the head, neck, and facial region in children should begin with this.

Objective We herein retrospectively analyzed the clinical characteristics and treatment protocols of children with relapsing polychondritis (RP) with airway involvement.Methods We reviewed the medical records of eight children with pediatric-onset RP with airway involvement who presented to Shanghai Children's Hospital from June 2021 to June 2024. All children met Damiani's criteria for the diagnosis of RP. One child underwent "laryngotracheal reconstruction with hyoid graft + T-tube implantation + bioabsorbable corticosteroid-eluting stent implantation," while five children underwent "balloon dilatation + T-tube implantation + bioabsorbable corticosteroid-eluting stent implantation." After the initial surgery, follow-up was performed every two months for a total of six months. Three bioabsorbable corticosteroid-eluting stents were placed in the upper left and upper and lower right T-tubes during this time.Results All eight children were seen in our department for outpatient follow-up: one child was extubated; five children remained in outpatient follow-up; and the remaining two children continued to be treated in the rheumatology and immunology department due to poor control of their primary disease.Conclusion Tracheotomy can be used to rapidly improve symptoms of dyspnea in children with RP disease progression. In the stable stage of the disease, the minimally invasive surgical method of "balloon dilatation + T-tube implantation + bioabsorbable corticosteroid-eluting stent implantation" was adopted to reduce secondary injury caused by surgical trauma (to the extent possible) and to improve the survival and quality of life of the children.