Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective To investigate the changes and clinical significance of pyroptosis and inflammation in children with acute lymphoblastic leukemia after chemotherapy.Methods A retrospective analysis was con-ducted on the clinical data of 98 children with acute lymphoblastic leukemia who received chemotherapy in the pediatrics and hematology and oncology departments of the hospital from May 2023 to August 2024.Accord-ing to the results of blood culture,the selected children were divided into the Gram-positive bacteria group,the Gram-negative bacteria group,the fungal group and the non-bloodstream infection group,and drug sensitivity tests were conducted.After chemotherapy,the children were divided into the granulocytosis group and the non-granulocytosis group according to the granulocyte level.The relevant indicators were detected and com-pared by methods such as blood routine,flow microsphere array technology,enzyme-linked immunosorbent assay(ELISA),and Western blot.Results After chemotherapy,the pyroptosis related indicators caspase-1,caspase-4,caspase-5,caspase-11,interleukin(IL)-1 β,IL-18,the proportion of pyroptosis cells and the relative expression level of GSDMD protein in children of each infection type were significantly increased compared with those before chemotherapy(P＜0.05).After chemotherapy,the levels of IL-4,IL-6,IL-10 and interfer-on-γ(IFN-γ)in the granulocytosis group were significantly higher than those in the non-granulocytosis group(P＜0.05),and the granulocyte level was negatively correlated with the levels of IL-4,IL-6,IL-10 and IFN-γ(P＜0.05).There were statistically significant differences in the levels of IL-4,IL-6,IL-10 and IFN-γ in dif-ferent infection states after chemotherapy(P＜0.05).Conclusion The number of granulocytes and the levels of serum cytokines can serve as potential indicators of infection in children with leukemia.The regulation of pyroptosis may provide new strategies for the treatment of childhood leukemia.

Objective:To explore the clinical and genetic characteristics of X-linked intellectual disability associated with HUWE1 gene variants.Methods:A cases series study retrospectively analyzed the clinical data of 6 children with HUWE1 gene variants. The children were identified from the Third Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Zhengzhou University, the First Affiliated Hospital of Henan University of Chinese Medicine, and Guangzhou Women and Children′s Medical Center of Guangzhou Medical University between April 2021 and July 2023.The data included sex, age, dysmorphic features, intellectual and motor development, seizure history, neuroimaging findings, family history, and genetic results was analyzed.Results:A total of 6 children, including 5 boys and 1 girl. The age of onset ranged from 1 day to 3 years. All children presented with varying degrees of intellectual disability, with or without motor developmental delay. Dysmorphic features were observed in 4 children, including microcephaly in 3 children. Short stature were observed in 3 children. One child was diagnosed with autism spectrum disorders and 1 child had seizures. Two boys had relevant maternal family histories of febrile seizures and mild intellectual disability, respectively. Abnormal neuroimaging findings were presented in 4 children, including cerebral dysplasia (1 child), prominent supratentorial ventricles (1 child), and mild white matter demyelination (2 children). Whole-exome sequencing identified 5 missense variants and 1 in-frame deletion variant. Five variants were novel and previously unreported (c.12290C>T, c.12701T>C, c.9875C>T, c.9641A>T and c.10313_10315del). The variants in 4 boys were maternally inherited, while the remaining 2 children had de novo variants. The child with the in-frame deletion variant (c.10313_10315del) presented with the most severe phenotype, exhibiting symptoms from 1 day of age, absent cognitive development, feeding difficulties, and congenital laryngeal chondrodysplasia. He was lost to follow-up at 3 months of age after treatment was withdrawn. The age at the last follow-up for the remaining 5 children ranged from 2 years and 10 months to 17 years. A boy with seizures died at 2 years and 10 months of age. The remaining 4 children were able to walk independently at the last follow-up, although their developmental progress was slow. Conclusions:HUWE1 gene related X-linked intellectual disability is characterized by varying degrees of developmental delay and intellectual disability, frequently accompanied by microcephaly, short stature, and occasionally by seizures and autism spectrum disorders. Missense variants are more common and the in-frame deletion variant appears to be associated with a particularly severe phenotypic presentation.

Objective:This report presents the initial outcomes of endoscopic intermuscular dissection (EID), a novel technique introduced by our team for the diagnostic resection of early rectal cancer, focusing on the postoperative status of the vertical margins.Methods:On January 26, 2024, a patient with early rectal cancer (cT1-2N0M0) underwent Endoscopic Intermuscular Dissection. The EID procedure consists of six steps: (1) mucosal incision; (2) submucosal dissection; (3) superficial muscular layer incision; (4) intermuscular dissection; (5) complete tumor removal; (6) wound management.Results:The patient was a 70-year-old male with rectal cancer (cT1-2N0M0). The tumor was located on the left anterior wall of the rectum, approximately 9 cm from the anal margin, and measured 20mm in size. The dissection rate was 2.68 mm2/minute, and the total duration of the surgery was 109 minutes. The patient was successfully discharged on the fifth day after surgery. Pathological examination of the post-endoscopic surgery specimen revealed pT1b, with negative vertical margins. Follow-up after more than one month showed good recovery with no complications such as bleeding, perforation, infection, or stricture occurring. Colonoscopy indicated the presence of a granulation tissue suggestive of inflammation.Conclusion:Endoscopic Intermuscular Dissection for the diagnostic resection of early rectal cancer is potentially safe and may achieve negative vertical margins.

Objective:This report presents the initial outcomes of endoscopic intermuscular dissection (EID), a novel technique introduced by our team for the diagnostic resection of early rectal cancer, focusing on the postoperative status of the vertical margins.Methods:On January 26, 2024, a patient with early rectal cancer (cT1-2N0M0) underwent Endoscopic Intermuscular Dissection. The EID procedure consists of six steps: (1) mucosal incision; (2) submucosal dissection; (3) superficial muscular layer incision; (4) intermuscular dissection; (5) complete tumor removal; (6) wound management.Results:The patient was a 70-year-old male with rectal cancer (cT1-2N0M0). The tumor was located on the left anterior wall of the rectum, approximately 9 cm from the anal margin, and measured 20mm in size. The dissection rate was 2.68 mm2/minute, and the total duration of the surgery was 109 minutes. The patient was successfully discharged on the fifth day after surgery. Pathological examination of the post-endoscopic surgery specimen revealed pT1b, with negative vertical margins. Follow-up after more than one month showed good recovery with no complications such as bleeding, perforation, infection, or stricture occurring. Colonoscopy indicated the presence of a granulation tissue suggestive of inflammation.Conclusion:Endoscopic Intermuscular Dissection for the diagnostic resection of early rectal cancer is potentially safe and may achieve negative vertical margins.

Objective:To examine follow-up data of different subgroups in order to further evaluate the performance and practical value of community colorectal cancer screening by detection of stool methylation syndecan-2 gene (m SDC2) among residents of Shipai Town, Dongguan City. Methods:This was an observational study. From May 2021 to February 2022, the Shipai Town government of Dongguan City completed screening for colorectal cancer by detection of stool m SDC2 in 10,708 residents from 18 villages who had met the initial screening criteria and been selected using whole population sampling. From May 2022 to February 2023, the research group conducted follow-up of participants about one year after the initial screening. Residents in the gray zone according to the initial screening were followed up by colonoscopy. Additionally, 1,000 residents with negative results on the initial screening were randomly sampled to undergo colonoscopy. Stool m SDC2 detection was performed again on residents who had had positive results on the initial screening, and colonoscopy was performed on those who again tested positive. Compliance with colonoscopy and detection of gastrointestinal lesions during follow-up were assessed in different subgroups. Results:Of the 438 residents in the gray zone on the initial screening, 155 underwent colonoscopy follow-up (colonoscopy compliance rate 35.4% [155/438]). These colonoscopies revealed that 27 (17.4%) of the participants had gastrointestinal lesions, including advanced adenomas in 22 cases (14.2%) and non-adenomatous polyps in two cases (3.2%). No colorectal carcinomas was identified. Of the 1, 000 randomly sampled residents with negative results on initial screening, 286 underwent colonoscopy follow-up (colonoscopy compliance rate 28.6% [286/1000]), These colonoscopies revealed that 11 (3.8%)of these individuals had gastrointestinal lesions, including three advanced adenomas (1.0%), five non-advanced adenomas (1.7%), one serrated adenoma or polyp (0.3%), and two non-adenomatous polyps (0.7%), but no colorectal carcinomas. Of the 821 residents who tested positive in the initial screening, 511 again underwent stool mSDC2 detection one year later (follow-up rate 62.2% [511/821]). Of these participants, 66 tested positive again (rate of 12.9% [66/511]), 39 (7.6%) of them in the gray zone, whereas 406(79.5%) tested negative. Forty-seven of the residents with positive results underwent colonoscopy (colonoscopy compliance rate 71.2% [47/66]), which revealed 36 (76.6%) gastrointestinal lesions, including 10 advanced adenomas (21.3%), nine non-advanced adenomas (19.1%) and 17 non-adenomatous polyps (36.2%).Conclusion:Stool m SDC2 detection performs well as a screening tool. In our study, colorectal cancer or precancerous lesions were extremely rare in participants who tested negative on the initial screening. However, some of the participants who tested in the gray zone on initial screening had precancerous colorectal lesions, particularly advanced adenomas, which would have been missed without follow-up colonoscopy. Of note, stool m SDC2 detection has good follow-up value in individuals who test positive on initial screening.

Objective:To examine follow-up data of different subgroups in order to further evaluate the performance and practical value of community colorectal cancer screening by detection of stool methylation syndecan-2 gene (m SDC2) among residents of Shipai Town, Dongguan City. Methods:This was an observational study. From May 2021 to February 2022, the Shipai Town government of Dongguan City completed screening for colorectal cancer by detection of stool m SDC2 in 10,708 residents from 18 villages who had met the initial screening criteria and been selected using whole population sampling. From May 2022 to February 2023, the research group conducted follow-up of participants about one year after the initial screening. Residents in the gray zone according to the initial screening were followed up by colonoscopy. Additionally, 1,000 residents with negative results on the initial screening were randomly sampled to undergo colonoscopy. Stool m SDC2 detection was performed again on residents who had had positive results on the initial screening, and colonoscopy was performed on those who again tested positive. Compliance with colonoscopy and detection of gastrointestinal lesions during follow-up were assessed in different subgroups. Results:Of the 438 residents in the gray zone on the initial screening, 155 underwent colonoscopy follow-up (colonoscopy compliance rate 35.4% [155/438]). These colonoscopies revealed that 27 (17.4%) of the participants had gastrointestinal lesions, including advanced adenomas in 22 cases (14.2%) and non-adenomatous polyps in two cases (3.2%). No colorectal carcinomas was identified. Of the 1, 000 randomly sampled residents with negative results on initial screening, 286 underwent colonoscopy follow-up (colonoscopy compliance rate 28.6% [286/1000]), These colonoscopies revealed that 11 (3.8%)of these individuals had gastrointestinal lesions, including three advanced adenomas (1.0%), five non-advanced adenomas (1.7%), one serrated adenoma or polyp (0.3%), and two non-adenomatous polyps (0.7%), but no colorectal carcinomas. Of the 821 residents who tested positive in the initial screening, 511 again underwent stool mSDC2 detection one year later (follow-up rate 62.2% [511/821]). Of these participants, 66 tested positive again (rate of 12.9% [66/511]), 39 (7.6%) of them in the gray zone, whereas 406(79.5%) tested negative. Forty-seven of the residents with positive results underwent colonoscopy (colonoscopy compliance rate 71.2% [47/66]), which revealed 36 (76.6%) gastrointestinal lesions, including 10 advanced adenomas (21.3%), nine non-advanced adenomas (19.1%) and 17 non-adenomatous polyps (36.2%).Conclusion:Stool m SDC2 detection performs well as a screening tool. In our study, colorectal cancer or precancerous lesions were extremely rare in participants who tested negative on the initial screening. However, some of the participants who tested in the gray zone on initial screening had precancerous colorectal lesions, particularly advanced adenomas, which would have been missed without follow-up colonoscopy. Of note, stool m SDC2 detection has good follow-up value in individuals who test positive on initial screening.

OBJECTIVETo investigate the safety, feasibility, clinical value, indication, and distribution of diagnostic diseases in different age groups of colonoscopy in pediatric patients.

METHODSA retrospective analysis was performed on the data of pediatric patients receiving colonoscopy from April 2013 to June 2016 at The Sixth Affiliated Hospital of Sun Yat-sen University. Pediatric patients were divided into 0-6 years group (n=57) and 7-14 years group (n=172). Indication for colonoscopy, detective events and diagnostic diseases distribution were compared between two groups.

RESULTSA total of 229 pediatric patients (male 157 and female 72) were divided into 0-6 years group (57/229, 24.9%) and 7-14 years group(172/229, 75.1%). The main Indications for colonoscopy included abdominal pain (81/229, 35.4%), hematochezia (64/229, 27.9%), crissum abscess or fistula (40/229, 17.5%). Hematochezia was the most common complaint in 0-6 years group (40/57, 70.2%), while abdominal pain in 7-14 years group (74/172, 43.0%). Completion rate between 0-6 years group and 7-14 years group was not significantly different (87.72% vs. 85.47%, χ=0.181, P=0.671). Only one pediatric patient (1/229, 0.4%) developed transient oxygen desaturation and recovered quickly after oxygen supply and aspiration of sputum. No serious complications such as bleeding, perforation or death occurred. Including 45 pediatric patients in 0-6 years group and 102 pediatric patients in 7-14 years group, a total of 147 pediatric patients (147/229, 64.2%) were found to have colorectal lesions. Inflammatory bowel disease (57/147, 38.8%), colonic polyps (40/147, 27.2%) and other intestinal inflammation (39/147, 26.5%) were the main findings. The most frequent diagnosis in 0-6 years group was colonic polyps (28/57, 49.1%), among them, 25 pediatric patients (25/28, 89.3%) were with the complaint of hematochezia. The most frequent diagnosis in 7-14 years group was Inflammatory bowel disease (54/172, 31.4%), among them, 29 pediatric patients (29/54, 53.7%) were with the complaint of abdominal pain.

CONCLUSIONSPediatric colonoscopy is safe and effective. Hematochezia and abdominal pain are the most common complaints in 0-6 years group and 7-14 years group respectively. Colonic polyps and inflammatory bowel disease are the most frequent diagnosis in 0-6 years group and 7-14 years group respectively.