1.Association of microRNA gene polymorphisms with risk, clinicopathological characteristics and therapeutical efficacy among Chinese patients with Crohn's disease.
Yanlun ZHANG ; Xiaoxiao SHAO ; Daopo LIN ; Yuan XU ; Guolong MA ; Yi JIANG
Chinese Journal of Medical Genetics 2026;43(2):111-122
OBJECTIVE:
To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients.
METHODS:
From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01).
RESULTS:
No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025).
CONCLUSION
Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans
;
MicroRNAs/genetics*
;
Crohn Disease/pathology*
;
Male
;
Female
;
Adult
;
Polymorphism, Single Nucleotide
;
Middle Aged
;
Asian People/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Young Adult
;
Case-Control Studies
;
Adolescent
;
East Asian People
2.Omental torsion presenting as acute appendicitis: A case report.
Nathalea V. De Leon ; Marc Paul J. Lopez ; Manuel Francisco T. Roxas ; Mario Angelo A. Zamora ; Claudine Rosario B. Lukban
Philippine Journal of Surgical Specialties 2026;81(1):18-20
Omental torsion is a rare cause of acute surgical abdomen from omental twisting leading to distal vascular compromise. Preoperative diagnosis has been a dilemma as clinical features, laboratory and radiographic findings are nonspecific and variable, closely mimicking acute appendicitis. Surgical excision has been suggested to offer rapid symptom relief and postoperative recovery. Presented here is a case of a 59-year-old male with omental torsion who presented with generalized abdominal tenderness and was preoperatively diagnosed as ruptured appendicitis who underwent laparotomy with uneventful post-operative course.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Abdomen, Acute ; Appendicitis
3.Acute appendicitis presenting as right upper quadrant pain: A case report.
Sofia Isabel T. Manlubatan ; Jaime Antonio O. Yu ; Marc Paul J. Lopez
Philippine Journal of Surgical Specialties 2026;81(1):21-24
Appendicitis is one of the most commonly encountered general surgery emergencies worldwide and has been extensively studied. However, anatomical variations in the position of the appendix may result in atypical clinical presentations, leading to diagnostic difficulty and delays in management. Reported here is a case of subhepatic appendicitis in a young adult patient who successfully underwent laparoscopic appendectomy. Subhepatic appendicitis is a rare surgical entity that should be considered in patients presenting with right upper quadrant abdominal pain. Contrast-enhanced computed tomography and laparoscopy are valuable tools in the diagnosis and management of this uncommon condition.
Human ; Female ; Adult: 25-44 Yrs Old ; Laparoscopy ; Appendectomy ; Appendix ; Appendicitis ; Abdominal Pain
4.Construction of NK cell-conditional Cd226 knockout mice and preliminary investigation of their role in ulcerative colitis.
Jianchun LYU ; Zichan GUO ; Yazhen WANG ; Ziyan CHEN ; Zhengxiang ZHANG ; Lihua CHEN
Chinese Journal of Cellular and Molecular Immunology 2025;41(6):488-494
Objective To generate and characterize natural killer cell (NK cell)-conditional Cd226 gene knockout mice using Cre-loxP technology, and to explore the role of CD226 on NK cells in alleviating intestinal inflammation in a murine model of ulcerative colitis (UC). Methods NK cell-conditional Cd226 gene knockout mice were generated by crossing loxP-flanked Cd226 mice with Ncr1-Cre mice via the Cre-loxP system. Polymerase chain reaction (PCR) and agarose gel electrophoresis were used for genotyping. A UC model was established by dextran sulfate sodium (DSS) induction. Flow cytometry was performed to analyze CD226 expression levels on NK cells and the infiltration of related immune cells in colon tissues. Hematoxylin-eosin (HE) staining was performed to assess the degree of colonic inflammation. Results DNA gel electrophoresis and flow cytometry confirmed the successful generation of NK cell-specific Cd226 knockout mice. After conditional knockout of Cd226 in NK cells, inflammation in the UC mouse model was alleviated. Flow cytometry results showed a reduced proportion of NK cells in peripheral blood and the colon lamina propria, while HE staining demonstrated attenuated inflammatory responses. Conclusion Specific knockout of Cd226 in NK cells mitigates intestinal inflammation in UC mice by reducing NK cell numbers and inhibiting their pro-inflammatory functions.
Animals
;
Colitis, Ulcerative/pathology*
;
Killer Cells, Natural/metabolism*
;
Mice, Knockout
;
T Lineage-Specific Activation Antigen 1
;
Antigens, Differentiation, T-Lymphocyte/genetics*
;
Mice
;
Disease Models, Animal
;
Mice, Inbred C57BL
;
Male
5.Research progress on risk factors for poor prognosis in pediatric non-esophageal eosinophilic gastrointestinal disorder.
Chinese Journal of Contemporary Pediatrics 2025;27(4):493-499
Non-esophageal eosinophilic gastrointestinal disorder (non-EoE EGID) is a group of immune-mediated gastrointestinal diseases characterized by infiltration of eosinophils. Although most patients experience symptom relief after treatment, some still face the risk of persistent symptoms or relapse. Improving the prognosis for this subset of patients remains an urgent challenge. Identifying risk factors that affect the prognosis of non-EoE EGID and providing timely effective interventions are crucial for improving outcomes. This paper reviews the risk factors related to the prognosis of pediatric non-EoE EGID, including genetic factors, allergies, environmental factors, clinical characteristics, endoscopic findings, and pathological manifestations, with the aim of providing references for clinical decision-making.
Humans
;
Prognosis
;
Risk Factors
;
Child
;
Eosinophilia/etiology*
;
Gastritis/etiology*
;
Enteritis/etiology*
6.Comparative analysis of clinical characteristics of term and preterm neonates with necrotizing enterocolitis undergoing surgery.
Jun-Li LI ; Huan WEI ; Qi TAN ; Jian CAO ; Ting ZHU ; Yang ZHANG ; Yuan SHI ; Zheng-Li WANG
Chinese Journal of Contemporary Pediatrics 2025;27(5):595-600
OBJECTIVES:
To study the differences in clinical characteristics of term and preterm neonates with necrotizing enterocolitis (NEC) undergoing surgical treatment.
METHODS:
A retrospective analysis was conducted on the clinical data of 142 NEC neonates who underwent surgery at the Children's Hospital of Chongqing Medical University from June 2017 to August 2023. The neonates were categorized into a preterm group (gestational age <37 weeks; 95 cases) and a term group (gestational age 37-42 weeks; 47 cases) to compare clinical characteristics.
RESULTS:
The preterm group had a higher postnatal age at both diagnosis and surgery compared to the term group (P<0.05). The preterm group also had a higher incidence of preoperative bloody stools, lower preoperative platelet counts, and higher rates of preoperative respiratory distress, apnea, reduced/absent bowel sounds, and mechanical ventilation compared to the term group (P<0.05). Postoperatively, the preterm group had higher rates of purulent meningitis, sepsis, and coagulation dysfunction, lower postoperative platelet counts, and lower intraoperative minimum body temperature than the term group (P<0.05).
CONCLUSIONS
There are significant differences in the clinical characteristics of preterm and term neonates with NEC undergoing surgery, suggesting the need for tailored perioperative management strategies based on these characteristics.
Humans
;
Enterocolitis, Necrotizing/surgery*
;
Infant, Newborn
;
Retrospective Studies
;
Male
;
Female
;
Infant, Premature
;
Gestational Age
7.Analysis of nutritional status before and after different induction therapies in children with Crohn's disease.
Lei-Lei CHEN ; Yu YU ; You-You LUO ; Jie CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(6):702-708
OBJECTIVES:
To study the impact of different induction remission therapies on the nutritional status of children with Crohn's disease (CD).
METHODS:
A retrospective analysis was conducted on the medical data of 188 children with CD who received induction remission therapy at the Children's Hospital, Zhejiang University School of Medicine from January 2013 to May 2023. The effects of three induction remission therapies-exclusive enteral nutrition (EEN), corticosteroids, and infliximab (IFX)-on height, weight, hemoglobin, and trace elements were compared.
RESULTS:
After induction remission therapy, the weight-for-age Z scores and serum levels of hemoglobin and albumin in all three groups significantly increased (P<0.05), while the height-for-age Z scores showed no change (P>0.05). The levels of folic acid, 25-hydroxy vitamin D, serum iron, and total calcium increased, and serum copper levels decreased in the EEN and IFX groups (P<0.05). Vitamin B12 levels improved in the EEN group (P<0.05).
CONCLUSIONS
EEN, corticosteroids, and IFX may effectively improve the weight-for-age Z scores and serum levels of hemoglobin and albumin in children with CD. EEN and IFX seem to be superior to corticosteroid therapy in improving 25-hydroxy vitamin D, folic acid, serum iron, and total calcium levels.
Humans
;
Crohn Disease/blood*
;
Child
;
Male
;
Female
;
Retrospective Studies
;
Adolescent
;
Nutritional Status
;
Infliximab/therapeutic use*
;
Child, Preschool
;
Enteral Nutrition
;
Adrenal Cortex Hormones/therapeutic use*
8.Efficacy and safety of empagliflozin in the treatment of glycogen storage disease-associated inflammatory bowel disease.
Dan-Xia LIANG ; Hao-Tian WU ; Jing YANG ; Min YANG
Chinese Journal of Contemporary Pediatrics 2025;27(8):929-935
OBJECTIVES:
To investigate the efficacy and safety of empagliflozin in patients with glycogen storage disease (GSD)-associated inflammatory bowel disease (IBD).
METHODS:
A cross-sectional study was conducted, enrolling 25 patients with GSD-associated IBD who received empagliflozin treatment. General data, details of empagliflozin use, and adverse events were collected. Clinical symptoms and biochemical parameters before and after empagliflozin therapy were compared.
RESULTS:
Twenty-five patients with GSD-associated IBD were included, with a median age at diagnosis of 0.7 years, and a mean age at initiation of empagliflozin therapy of (11 ± 6) years. The initial dose of empagliflozin was (0.30 ± 0.13) mg/(kg·d), with a maintenance dose of (0.40 ± 0.21) mg/(kg·d), and a treatment duration of (34 ± 6) months. Seventy-eight percent (18/23) of patients' parents reported that empagliflozin therapy reduced the frequency of infections and oral ulcers, and increased neutrophil counts. Clinically, the number of patients with anorexia decreased from 12 to 5 after treatment, and 30% showed improved appetite (P<0.05). The numbers of patients with diarrhea, mucus/bloody stools, perianal disease, and oral ulcers decreased from 19, 9, 11, and 21 before treatment to 7, 1, 0, and 10 after treatment, respectively (P<0.05). Laboratory findings showed that absolute neutrophil counts increased, while platelet counts, lactate, and uric acid levels decreased significantly after empagliflozin treatment (P<0.05). Adverse reactions occurred in 7 patients (28%) during empagliflozin treatment. Two cases occurred in the treatment initiation phase, presenting as hypotension or profuse sweating with dehydration, along with urinary tract infections (UTIs); empagliflozin was discontinued in both cases. During the maintenance phase, 3 cases of UTIs and 2 cases of hypoglycemia (one with profuse sweating) were reported.
CONCLUSIONS
Empagliflozin therapy can increase neutrophil counts, reduce the incidence of infections and oral ulcers, alleviate diarrhea and abdominal pain, improve appetite, and ameliorate platelet count, lactate, and uric acid levels in patients with GSD-associated IBD, demonstrating significant clinical benefit. UTIs, hypoglycemia, hypotension, profuse sweating, and dehydration may be potential adverse reactions associated with empagliflozin therapy.
Humans
;
Benzhydryl Compounds/adverse effects*
;
Male
;
Female
;
Glucosides/adverse effects*
;
Inflammatory Bowel Diseases/etiology*
;
Child
;
Child, Preschool
;
Cross-Sectional Studies
;
Adolescent
;
Glycogen Storage Disease/drug therapy*
;
Infant
9.Recent advances in artificial intelligence for auxiliary diagnosis and management of neonatal necrotizing enterocolitis.
Chinese Journal of Contemporary Pediatrics 2025;27(10):1281-1285
Necrotizing enterocolitis (NEC) is a life-threatening gastrointestinal disease of neonates with a multifactorial pathogenesis involving prematurity, low birth weight, hypoxia, infection, and immune dysregulation. Owing to its superior data processing and diagnostic capabilities, artificial intelligence (AI) has been increasingly applied to support clinical care. By analyzing clinical and imaging data, AI approaches can aid in early identification, differential diagnosis, treatment decision-making, and prognostic evaluation, thereby complementing clinician judgment. This review summarizes recent advances in the application of AI and machine learning for NEC diagnosis and management, comparing the characteristics and strengths of different algorithms. The aim is to provide a reference for further development and implementation of AI-assisted tools in this field.
Humans
;
Enterocolitis, Necrotizing/therapy*
;
Artificial Intelligence
;
Infant, Newborn
10.Risk factors for white matter damage in preterm infants with necrotizing enterocolitis.
Xin XU ; Si-Rui WANG ; Peng ZHANG ; Guo-Qiang CHENG
Chinese Journal of Contemporary Pediatrics 2025;27(11):1333-1338
OBJECTIVES:
To investigate the risk factors for white matter damage (WMD) in preterm infants with necrotizing enterocolitis (NEC).
METHODS:
A retrospective analysis was conducted on the clinical data of 249 preterm infants with NEC admitted to Children's Hospital of Fudan University between January 2021 and December 2023. Based on brain magnetic resonance imaging (MRI) white matter scores, the infants were categorized into a WMD group (≥7 points) and a non-injury group (<7 points). A multivariable logistic regression analysis was performed to identify risk factors for WMD.
RESULTS:
Compared with the non-injury group, the WMD group had significantly higher rates of Gram-negative bacterial infection (43.1% vs 28.2%), surgical treatment (47.2% vs 23.2%), and moderate-to-severe abnormalities on video electroencephalography (VEEG) (51.4% vs 11.9%) (all P<0.05). The multivariable logistic regression analysis showed that surgical treatment (OR=1.822, 95%CI: 1.199-2.777), longer hospital stay (OR=1.041, 95%CI: 1.004-1.080), and moderate-to-severe VEEG abnormalities (OR=7.045, 95%CI: 3.349-14.855) were independent risk factors for WMD (all P<0.05).
CONCLUSIONS
Surgical treatment, prolonged hospitalization, and moderate-to-severe VEEG abnormalities are independent risk factors for WMD in preterm infants with NEC, providing a basis for early clinical identification and intervention to improve neurological outcomes.
Humans
;
Enterocolitis, Necrotizing/complications*
;
Infant, Newborn
;
Male
;
Female
;
Risk Factors
;
Retrospective Studies
;
Infant, Premature
;
White Matter/diagnostic imaging*
;
Logistic Models
;
Magnetic Resonance Imaging


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