Background: Gut microbiota plays a critical role in many important physiological processes and is linked with various pulmonary infectious diseases. The relationship between pulmonary tuberculosis (PTB) and gut microbiota has been poorly studied. The present study aimed to characterize gut microbiota in pediatric patients with PTB.Methods: A case-controlled study was executed for the characterization of gut microbiota in pediatric PTB patients. Fecal samples were collected from the PTB patients and healthy controls upon admission. In addition, a one-month follow-up assessment was performed to investigate alterations in the gut microbiota post anti-tuberculosis treatment. 16SrDNA sequencing analysis of fecal DNA was completed on the Illumina MiSeq platform.Results: Compared with healthy controls, the gut microbiota of pediatric patients with PTB was characterized by decreased microbial diversity. PTB patients further presented an up-regulation of the pro-inflammatory bacteriaPrevotella,the opportunistic pathogenEnterococcus,as well as a reduction of beneficial bacteria includingRuminococcaceae,Bifidobacteriaceaeandprausnitzii.One-month after anti-tuberculosis therapy, the richness of gut microbiota in PTB patients was distinctly depleted.Conclusions: The gut microbiota of pediatric patients with PTB was significantly distinct from healthy controls. Additionally, the richness of gut microbiota in PTB patients decreased after one-month anti-tuberculosis treatment. It is hypothesized that the homeostasis of gut microbiota in PTB patients may affect the pathogenies of PTB by de-regulation of the hosts’ immune status through the gut-lung axis.

Background: Infantile liver failure syndrome-2 (ILFS2) is caused by neuroblastoma amplified sequence (NBAS) mutation. The disease is characterized by recurrent episodes of acute liver failure (ALF) or by liver crisis triggered by recurrent episodes of fever and complete recovery.Case presentation: Here, we describe the case of a Chinese girl with typical clinical manifestation of ILFS2 without exhibition of extrahepatic involvement. The patient harbored novel compound heterozygous mutations in the NBAS region (c.3386C > T (p.Ser1129Phe), c.1A > C (p.Met1Leu) and c.875G > A (p.Gly292Glu)), mutations which have not been previously reported. After administration of antipyretics and intravenous glucose and electrolyte administration, the patient recovered fully.Conclusion: Through the present study, we recommend that ILFS2 should be taken into consideration during the differential diagnosis of children with recurrent, fever-triggered ALF. While the definitive diagnosis of ILFS2 remains dependent on genetic sequencing and discovery of NBAS, early antipyretic treatment is recommended to prevent liver crisis.

The gut-vascular axis has emerged as a critical focus of research, with accumulating evidence suggesting distinct alterations in intestinal microbiota among patients with Kawasaki disease (KD). However, no systematic review to date has comprehensively characterized gut microbial dysbiosis in this population. This systematic review aimed to investigate changes in the composition of gut microbiota in KD patients. A comprehensive search of MEDLINE, EMBASE, Web of Science, and the Cochrane Library databases was conducted, and the study quality was assessed using the Newcastle-Ottawa Scale. All reported taxa were re-annotated according to the SILVA 138 database. Seven studies were enrolled in our review. In acute-phase KD, reduced α -diversity and significant β -diversity divergence were observed compared to healthy controls (HCs). Concurrently, taxa with potential short-chain fatty acid (SCFA)-linked protective functions showed diminished abundance, including Bacteroidota, Bacteroides, Roseburia, Faecalibacterium, Blautia, Dialister, Lachnospira, and Prevotella , while opportunistic pathogens such as Enterococcus were enriched in acute-phase KD cohorts. For non-acute KD patients, β -diversity remained distinct, with reduced abundance of the SCFA-producing genus Blautia . These findings suggest that gut microbiota dysbiosis may be associated with KD pathogenesis via immunomodulatory pathways, although the mechanistic insights remain to be elucidated. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/view/CRD420251148103

Background: Arboleda-Tham syndrome (ARTHS), caused by likely pathogenic or pathogenic variants in the KAT6A gene, is characterized by developmental delay, distinctive facial dysmorphic features, and congenital cardiac anomalies. ARTHS warrants consideration in the differential diagnosis of neonates exhibiting unexplained cardiac arrhythmias, seizures, and dysmorphic features, although neonatal-onset manifestations remain underrecognized. Case: We report two Chinese patients with KAT6A variants diagnosed in the neonatal period who presented with life-threatening manifestations. Two unrelated neonates presented with severe cardiac arrhythmias or seizures within the first month of life, in association with congenital heart defects and developmental delay. Whole-exome sequencing (WES) identified two de novo KAT6A variants: a novel splice-site variant (c.3352 + 1G>C) in patient 1, who developed supraventricular tachycardia at 23 days of life, and a previously reported missense variant (c.4645G>A; p. Gly1549Ser) in patient 2 with seizures onset at 11 days. Both patients exhibited complex congenital heart disease (Patient 1: VSD, ASD and PDA; Patient 2: PFO and PDA), developmental delay, and characteristic dysmorphic features consistent with ARTHS. Conclusion: This report highlights the critical role of genomic sequencing in the diagnostic evaluation of neonates with unexplained cardiac arrhythmias or seizures. WES should be considered in neonates exhibiting severe early-onset multisystem involvement and dysmorphic features to investigate potential KAT6A variants. These findings substantially expand the phenotypic spectrum of ARTHS by documenting severe neonatal manifestations and contribute to a deeper understanding of KAT6A-related phenotypic variability.