Objective:To compare the clinical characteristics of monogenic and non-monogenic early-onset inflammatory bowel disease (EO-IBD) in children and to explore the necessity of genetic analysis in EO-IBD research.Methods:A retrospective analysis of clinical data was conducted on 73 children diagnosed with EO-IBD at the Children's Hospital affiliated with Capital Institute of Pediatrics between January 2017 and December 2023. Genetic analysis was performed utilizing next-generation sequencing technology, with patients stratified into monogenic and non-monogenic groups based on the presence or absence of pathogenic mutations. Subsequently, a comparative analysis of clinical characteristics was conducted between these two cohorts of EO-IBD patients.Results:Among the 73 EO-IBD cases, 27 (37%) were diagnosed as monogenic IBD, and 46 (63%) as non-monogenic IBD. Compared to the non-monogenic group, the monogenic group had an earlier age of onset [1 (0.2, 3.0) months vs. 15 (4.1, 51.3) months, P < 0.001], with a higher incidence within the first month of life (70.4% vs. 13.0%, P < 0.001). Monogenic IBD cases were more likely to present with Crohn's disease (CD) phenotypes (88.9% vs. 52.2%, P = 0.003) and colonic involvement (L2) (91.7% vs. 62.5%, P < 0.001), but were less likely to present with non-penetrating, non-stricturing (B1) disease (87.5% vs. 95.8%, P = 0.019). Children in the monogenic group were more prone to severe malnutrition (74.1% vs. 21.3%, P < 0.001), perianal abscesses (40.7% vs. 8.7%, P < 0.001), perianal tags (22.2% vs. 0%, P = 0.004), fever (74.1% vs. 23.9%, P < 0.001), oral ulcers (44.4% vs. 6.5%, P < 0.001), and skin lesions (33.3% vs. 2.2%, P < 0.001). Regarding treatment, the monogenic group had higher usage of thalidomide (88.9% vs. 54.3%, P = 0.002) and hematopoietic stem cell transplantation (HSCT) (37.0% vs. 0, P < 0.001) and a higher mortality rate (22.2% vs. 2.2%, P = 0.017) . Conclusions:For children with IBD presenting at an early age, especially within the first month of life, and showing symptoms like fever, oral ulcers, skin lesions, severe malnutrition, and perianal disease, monogenic IBD should be considered. Genetic testing results can aid in guiding treatment decisions.

Objective:To investigate the antibiotic resistance of Helicobacter pylori (Hp) and to evaluate the eradication efficacy of individualized treatment for Hp in children. Methods:A retrospective cohort study was conducted on 227 children who visited the Department of Gastroenterology, Capital Center for Children′s Health, Capital Medical University from June 2022 to December 2023 due to gastrointestinal symptoms. All patients underwent gastroscopy and tested positive on 13C-urea breath testing. They were grouqed according to the Hp culture and drug susceptibility test. Children with positive Hp culture received personalized treatment based on the results of their drug sensitivity tests, while the other children who didn′t undergo Hp culture received empirical treatment. The effects of different treatment groups was compared by chi-square test or Fisher exact probability test. Results:A total of 227 children with Hp infection (121 males and 106 females) were included, with the age of 11.7 (8.9, 13.6) years. Among the 131 samples submitted for testing, 105 cases (80.1%) had positive results. Only 9.5% (10/105) of patients were sensitive to 6 antibiotics. The resistance rates to clarithromycin, metronidazole and levofloxacin were 90.5% (95/105), 86.7% (91/105) and 22.9% (24/105) respectively. The resistance rate to both clarithromycin and metronidazole was 77.1% (81/105). The resistance rate to both levofloxacin and metronidazole was 19.0% (20/105). The resistance rate to both levofloxacin and clarithromycin was 21.9% (23/105). The resistance rate to these three antibiotics was 16.2% (17/105). No strains resistant to furazolidone, amoxicillin or tetracycline hydrochloride were found. Eighty-nine cases were treated with bismuth quadruple therapy based on the drug sensitivity results, and the overall eradication rate was 88.8% (79/89), including 42 treatment-naive cases with a 100% eradication rate (42/42) and 47 retreatment cases with a 78.7% eradication rate (37/47). The eradication rate of empirical treatment was 75.7% (56/74). Among them, 65 patients received amoxicillin, clarithromycin and omeprazole because of negative penicillin skin tests, with a 75.4% (49/65) eradication rate; 9 patients received clarithromycin, metronidazole, omeprazole and bismuth with positive penicillin skin tests, achieving 7/9 eradication rate. The comparison of eradication rates between two treatment groups suggested a statistically significant difference ( P<0.05). No statistically significant difference was found in drug reactions such as nausea, vomiting, and rash between the two groups ( P>0.05). Conclusions:Hp strains had a relatively high dual resistance to clarithromycin and metronidazole, especially clarithromycin. For areas with a high resistance rate to clarithromycin, the bismuth quadruplet of clarithromycin removal combined with bismuth agent can be chosen as empirical treatment. In medical institutions where drug susceptibility test can be conducted, personalized treatment plans are recommended as the first-line treatment.

Objective:To explore the clinical and genetic characteristics and follow-up status of pediatric patients with hepatic glycogen storage disease in order to further improve the prognosis.Methods:The clinical data of hospitalized children diagnosed with hepatic glycogen storage disease in the Department of Gastroenterology at the Children's Hospital of Capital Institute of Pediatrics from January 2010 to April 2023 were collected and retrospectively analyzed. The results of laboratory examination and gene sequencing were analyzed, and the number of cases that exceeded three (n) were grouped according to the genetic results: Group 1 was type Ⅰ ( n=8), Group 2 was type Ⅲ ( n=5), and Group 3 was type Ⅸa ( n=8).The growth, development and prognosis of the children were followed up. The related clinical characteristics of pediatric hepatic glycogen storage disease were summarized. Results:Twenty-five pediatric patients with hepatic glycogen storage disease were enrolled in this study, with fifteen males and ten females. The mean age of diagnosis was (29.1±13.5) months. There were twelve cases (48%) accompanied with varying degrees of hypoglycemia, and two cases (8%) with severe hypoglycemia.There were nineteen cases with stature retardation (76%), four cases with anemia (16%), three cases with proteinuria (12%), and one case with cholestasis (4%).The genetic results showed that there were four cases of type Ⅰa (16%), four cases of type Ⅰb (16%), one case of type Ⅱ (4%), five cases of type Ⅲ (20%), two cases of type Ⅳ (8%), one case of type Ⅵ (4%), and eight cases of type Ⅸ (32%).The three subgroups analysis showed that there were significant statistical differences in uric acid and triglycerides among the three groups ( P<0.05), while there were no statistical significant differences in transaminase levels, fasting blood glucose, lactate, cholesterol, and low-density lipoprotein levels ( P>0.05). The height-for-age Z scores of the three groups were -2.86±1.62, -1.46±1.06, and -1.83±0.98, respectively. The growth and development of groups 2 and 3 were significantly improved compared with group 1 ( P<0.05), with Z scores of -2.28±1.07, 0.20±1.54, and 0.10±1.44 after at least one year of follow-up. All pediatric patients with type Ⅸa had discontinued using raw corn starch after more than one year of follow-up and their transaminases had returned to normal. Four pediatric patients with type Ia were orally administered raw corn starch on a regular basis, and the aminotransferases, uric acid, and lactate were normal, with hypoglycemia being monitored. Among the four cases with type Ⅰb, one had recurrent respiratory tract and intestinal infections, two were combined with Crohn's disease, and one was monitored for hypoglycemia. In four cases of type Ⅲ, raw corn starch was discontinued, and a high-protein, low-carbohydrate diet was adopted, with the exception of the presence of high creatine kinase and normal aminotransferase. Liver failure resulted in the death of one type Ⅵ case, while two were type Ⅳ cases; one died, and one case recently had slightly elevated aminotransferase. Conclusion:When pediatric patients exhibit manifestations such as hepatomegaly, elevated transaminases, fasting hypoglycemia, and delayed growth and development, it is necessary to be alert to hepatic glycogen storage disease. Clinical manifestations and biochemical indicators combined with genetic testing are helpful for the diagnosis of hepatic glycogen storage disease. Simultaneously, targeted nutritional management should be carried out according to the metabolic characteristics of different subtypes, with attention on growth and development status.

OBJECTIVES: The risk factors and role of mother‒child gut microbiota in pediatric inflammatory bowel disease (PIBD) remain unclear. We aimed to explore the clinical risk factors associated with PIBD, analyze the characteristics of gut microbiota of children and their mothers, and examine the correlation of the microbial composition in mother‒child pairs. METHODS: We conducted a case-control study including children with PIBD and their mothers as the case group, as well as healthy children and their mothers as the control group. Questionnaires were used to collect information such as family illness history and maternal and early-life events. Fecal samples were collected from the children and mothers for microbiota 16S ribosomal RNA (rRNA) sequencing to analyze the composition and its potential association with PIBD. RESULTS: A total of 54 pairs of cases and 122 pairs of controls were recruited. A family history of autoimmune disease and antibiotic use during pregnancy were associated with an increased risk of PIBD, and a higher education level of the father was associated with a decreased risk of PIBD. Children with PIBD and mothers exhibited different gut microbiota compared to healthy children and mothers. Similarities were observed in the gut microbiota of mothers and children in the same groups. Some bacterial biomarkers of mothers discovered in this study had the power to predict PIBD in their offspring. CONCLUSIONS PIBD is influenced by maternal risk factors and has unique gut microbiota characteristics. The mother‒child gut microbiota is closely related, suggesting the transmission and influence of the gut microbiota between mothers and children. This study highlights the potential pathogenesis of PIBD and provides a basis for developing targeted interventions.
Humans ; Gastrointestinal Microbiome ; Female ; Risk Factors ; Case-Control Studies ; Male ; Child ; Inflammatory Bowel Diseases/etiology* ; Adult ; RNA, Ribosomal, 16S/genetics* ; Feces/microbiology* ; Mothers ; Pregnancy ; Child, Preschool

Objective To investigate the mechanism by which Biejiajian Pill(BJJP)regulates ferroptosis in hepatocellular carcinoma(HCC)cells through the p62/Keap1/NRF2 pathway and to provide an experimental basis for its application in the prevention and treatment of HCC.Methods Huh7 HCC cells were divided into a normal control group,a BJJP drug serum group,an erastin(a ferroptosis inducer)group,a BJJP drug serum+erastin group,and BJJP drug serum+ferrostatin-1(Fer-1)(a ferroptosis inhibitor)group.BJJP drug serum was prepared with animals treated with BJJP and CCK-8 assay was performed to determine the optimal concentration and duration of BJJP intervention.The levels of intracellular iron(Fe),reduced glutathione(GSH),lipid peroxides(MDA),and reactive oxygen species(ROS)were measured.Western blot was performed to determine the expression levels of FTH1,GPX4,xCT,SLC40A1,Keapl,p62,and NRF2.JC-1 staining was performed to measure mitochondrial membrane potential,and cell immunofluorescence was performed to determine the expression of p62 and Keap1.Results According to the CCK-8 assay results,the cell inhibition rate was highest when BJJP was administered at a high dose of 2.2 g/kg(P＜0.001).Furthermore,the inhibition rate of Huh7 cells was highest when Huh7 cells were treated with high-dose BJJP drug serum for 48 h.Therefore,the serum concentration of high-dose BJJP and 48 h were selected as the treatment dose and duration for the subsequent experiment.Compared with the control group,the BJJP drug serum group,the erastin group,and the BJJP drug serum+erastin group showed increased iron content,decreased GSH content,increased MDA levels,increased ROS aggregation,decreased FTH1,GPX4,xCT,SLC40A1,p62,and NRF2 contents,increased Keap1 content,and decreased mitochondrial membrane potential(P＜0.05).Conclusion BJJP regulates ferroptosis in Huh7 HCC cells by inhibiting the p62/Keap1/NRF2 pathway,demonstrating potentials as a therapeutic agent for HCC.

Objective:To analyze the clinical characteristics，laboratory tests，endoscopic features，treatment，and follow-up of peptic ulcers caused by eosinophilic gastrointestinal disorders（EGIDs）in children，with the aim of improving the level of understanding，diagnosis and treatment of EGIDs in children with the onset of peptic ulcers.Methods:A retrospective analysis was conducted on children admitted to the Department of Gastroenterology，Capital Center for Children's Health，Capital Medical University from January 1st，2019 to October 31st，2023，who underwent complete endoscopic examination. The first examination showed the presence of peptic ulcers（gastric or duodenal ulcers）under the endoscope，and were ultimately diagnosed with peptic ulcers caused by EGIDs through examination and follow-up. The clinical characteristics，laboratory tests，endoscopic results，and treatment follow-up were analyzed.Results:Thirty-five children were EGIDs，22 males and 13 females.Twenty-two cases（62.9%）had abdominal pain as the main symptom.Laboratory tests：17 cases（48.6%）showed a decrease in hemoglobin，15 cases（42.9%）showed an increase in eosinophil count，20 cases（57.1%）tested gastro positive for food allergen specific IgE，and 17 cases（48.6%）showed thickening of the intestinal wall on gastrointestinal ultrasound. Endoscopic features：8 cases（22.9%）showed gastric antral ulcers，including 7 cases（20.0%）with multiple gastric antral ulcers，and 25 cases（71.4%）showed duodenal bulb ulcers.There were 15 cases（42.9%）showed huge ulcers，and 14 cases（40.0%）were located in the duodenal bulb. Comparison of clinical characteristics between children with EGIDs（EGIDs group）and those with peptic ulcers caused by Helicobacter pylori infection（Hp group）：the first clinical symptom in both groups was mainly abdominal pain，but the incidence rate in the EGIDs group was lower（62.9% vs 93.5%），and the weigth for length Z score in the EGIDs group was lower［0（-1.6，0.8）vs 1.1（0，1.9）］，with statistical significance（all P<0.05）. Comparison of laboratory tests：the EGIDs group showed a statistically significant difference in hemoglobin levels［120（101，124）g/L vs 130（100，138）g/L］，eosinophil count［0.28（0.13，0.71）× 10 9/L vs 0.16（0.08，0.22）×10 9/L］，a positive rate of food allergen specific IgE detection（57.1% vs 32.3%），and a positive rate of intestinal wall thickening detected by gastrointestinal ultrasound（48.6% vs 16.1%）compared with the Hp group（all P<0.05）. Comparison of endoscopic examinations：multiple ulcers in the gastric antrum were more common in the EGIDs group than in the Hp group（20.0% vs 0），and the difference was statistically significant（ P<0.05）. Conclusion:For children with peptic ulcers with onset of abdominal pain，with anemia or malnutrition，or multiple ulcers in the gastric antrum and huge ulcers in the duodenal bulb detected by endoscopy，it is recommended to perform multi site biopsies to help diagnose EGIDs early.

OBJECTIVE To investigate the efficacy and safety of metformin in the treatment of diabetes mellitus type 2 （T2DM） complicated with sarcopenia in elderly patients. METHODS From January 2022 to January 2024， clinical data from eligible patients with T2DM complicated with sarcopenia treated at the First Affiliated Hospital of Chongqing Medical and Pharmaceutical College were collected. Patients were randomly assigned into control group （70 cases） and observation group （70 cases） using a random number table. Both groups received routine interventions； control group additionally received subcutaneous injections of Insulin glargine injection before bedtime and Human insulin injection 30 minutes before breakfast， lunch and dinner every day. In addition to the same treatments as the control group， the observation group was administered 0.5 g of Metformin hydrochloride sustained-release tablets orally once daily. Both groups were treated continuously for 24 weeks. Comparisons were made between the two groups in terms of glucose metabolism indexes [fasting blood glucose （FBG）， 2 h postprandial blood glucose （2 hBG）， and glycosylated hemoglobin （HbA1c）]， homeostasis model assessment of insulin resistance （HOMA-IR）， appendicular skeletal mass muscle index （ASMI）， grip strength， walking speed， lipid metabolism indexes [serum total triglyceride （TG）， total cholesterol （TC）， low-density lipoprotein cholesterol （LDL-C）， and high-density lipoprotein cholesterol （HDL-C）]， serological markers [high-sensitivity C reactive protein （hs-CRP）， interleukin-6 （IL-6）， and ferritin levels] and quality of life. The occurrence of ADR was recorded in both groups. RESULTS 65 patients in the control group and 63 patients in the observation group completed this study， respectively. After treatment， the levels of FBG， 2 hBG， HbA1c， HOMA-IR，TG and TC in both groups， and the levels of hs-CRP， IL-6 and ferritin in observation group were all significantly reduced compared to those before treatment （P＜0.05）， and the HOMA-IR in observation group was significantly lower than control group （P＜0.05）； additionally， the grip strength， walking speed， and scores for daily living and activity abilities of observation group were increased than those before treatment and the control group （P＜0.05）. The incidence of adverse drug reactions in both groups was 2.86%. CONCLUSIONS Metformin can reduce inflammatory factors and ferritin levels， promote the recovery of muscle mass and strength， improve insulin resistance， and quality of life in elderly patients with T2DM complicated with sarcopenia， and does not increase the occurrence of adverse drug reactions.

A retrospective analysis was conducted on the clinical data of 11 children with Protein-Losing Gastrointestinal Disease (PLG) presented with chronic diarrhea who were admitted to the Capital Institute of Pediatrics Affiliated to Capital Medical University from 2018 to 2025. The data included etiology, laboratory test results, endoscopic and imaging findings, treatment regimens, and prognosis. Among them, there were 6 males and 5 females, with a median age of 7.8 (1.6, 12.0) months, and 9 cases ≤1 year. The etiologies were intestinal lymphangiectasia ( n=5), infection-related enteritis ( n=2), Crohn′s disease ( n=1), eosinophilic gastroenteritis ( n=1), and unknown ( n=2). Clinical manifestations were characterized by chronic diarrhea ( n=11), hypoalbuminemia ( n=11), and immune dysfunction ( n=8). Gastrointestinal endoscopy was performed in 9 cases, and diagnosis was confirmed by endoscopic pathology in 8 cases. Among the 5 cases of intestinal lymphangiectasia, only 3 were confirmed by 99Tc-labeled human serum albumin ( 99Tc m-HSA) radionuclide imaging. Five cases of lymphangiectasia were treated with a high medium-chain triglyceride diet, 2 infectious cases were treated with antibacterial agens, and 3 immune diseases received immunomodulators. Ten cases were cured and discharged, while 1 child died of sepsis after intestinal malrotation surgery. It is suggested that childhood PLG mostly occurs in infancy, with intestinal lymphangiectasia as the main etiology. Endoscopic pathology is the main diagnostic method, and with the combination of nutritional and immunomodulatory therapy, the prognosis is good for most of PLG patients.

Objective:To study the relationship between serum levels of angiopoietin-2 (Ang-2), insulin-like growth factor 1 (IGF-1), immune factors, and prognosis in patients with uterine fibroids.Methods:A case-control study was conducted involving 93 patients with uterine fibroids who underwent laparoscopic myomectomy at The First People's Hospital of Longnan City between June 2021 and June 2023. These patients constituted the study group. Additionally, 104 healthy women undergoing routine health check-ups during the same period were selected as the control group. Based on the prognosis of the patients in the study group, they were further divided into two subgroups: a good prognosis group ( n = 42) and a poor prognosis group ( n = 46). The correlations among serum levels of Ang-2, IGF-1, immune factors, and prognosis were analyzed in the study group compared to the control group, as well as between the good prognosis and poor prognosis groups. Results:Four cases from the control group and five cases from the study group were excluded from the analysis. In the study group, serum levels of Ang-2 and IGF-1 were found to be (303.18 ± 42.39) mg/L and (1377.11 ± 84.78) mg/L, respectively. Both levels were significantly higher than those in the control group [(231.25 ± 34.18) mg/L, (438.09 ± 52.15) mg/L, t = 12.87, 19.63, both P < 0.001]. Additionally, CD 8+ levels in the study group were higher than those in the control group ( t = -15.79, P < 0.001). Conversely, CD 3+, CD 4+, and CD 4+/CD 8+ levels were lower in the study group compared to the control group ( t = 7.92, 8.41, 5.21, all P < 0.001). In the poor prognosis group, the levels of Ang-2 and IGF-1 were (335.16 ± 42.67) mg/L and (1406.18 ± 83.77) mg/L, respectively, both of which were significantly higher than those in the good prognosis group [(284.63 ± 36.19) mg/L, (434.91 ± 53.28) mg/L, t = 5.96, 64.1, both P < 0.001]. The CD 8+ levels in the poor prognosis group were also higher than those in the good prognosis group ( t = -10.27, P < 0.001), while CD 3+, CD 4+, and CD 4+/CD 8+ levels were lower in the poor prognosis group ( t = 5.31, 7.03, 3.15, all P < 0.001). Correlation analysis revealed that Ang-2 was negatively correlated with CD 3+, CD 4+, and CD 4+/CD 8+ levels ( r = -0.623, -0.578, -0.662). In contrast, Ang-2 was positively correlated with CD 8+ levels, a history of uterine fibroids, the number of fibroids, a history of miscarriage, and the duration of breastfeeding ( r = 0.593, 0.452, 0.446, 0.419, 0.422). IGF-1 levels were also negatively correlated with CD 3+, CD 4+, and CD 4+/CD 8+ levels ( r = -0.720, -0.751, -0.712), while positively correlated with CD 8+, a history of uterine fibroids, the number of fibroids, a history of miscarriage, and the duration of breastfeeding ( r = 0.631, 0.503, 0.444, 0.501, 0.451). Furthermore, multivariate logistic regression analysis indicated that a family history of uterine fibroids, the number of fibroids, a history of miscarriage, and the duration of breastfeeding were all significant risk factors affecting the prognosis of patients with uterine fibroids (all P < 0.05). Conclusions:Patients with uterine fibroids have higher levels of Ang-2, IGF-1 and CD 8+, while the levels of CD 3+, CD 4+, and CD 4+/CD 8+ are lower. Additionally, the expression levels of Ang-2 and IGF-1 are associated with the patients' immune factors and prognosis.