Accurate timing of myelination is crucial for the proper functioning of the central nervous system. Here, we identified a de novo heterozygous mutation in TMEM63A (c.1894G>A; p. Ala632Thr) in a 7-year-old boy exhibiting hypomyelination. A Ca²⁺ influx assay suggested that this is a loss-of-function mutation. To explore how TMEM63A deficiency causes hypomyelination, we generated Tmem63a knockout mice. Genetic deletion of TMEM63A resulted in hypomyelination at postnatal day 14 (P14) arising from impaired differentiation of oligodendrocyte precursor cells (OPCs). Notably, the myelin dysplasia was transient, returning to normal levels by P28. Primary cultures of Tmem63a^-/- OPCs presented delayed differentiation. Lentivirus-based expression of TMEM63A but not TMEM63A_A632T rescued the differentiation of Tmem63a^-/- OPCs in vitro and myelination in Tmem63a^-/- mice. These data thus support the conclusion that the mutation in TMEM63A is the pathogenesis of the hypomyelination in the patient. Our study further demonstrated that TMEM63A-mediated Ca²⁺ influx plays critical roles in the early development of myelin and oligodendrocyte differentiation.
Animals ; Cell Differentiation/physiology* ; Oligodendroglia/metabolism* ; Mice, Knockout ; Mice ; Male ; Myelin Sheath/metabolism* ; Humans ; Child ; Cells, Cultured ; Oligodendrocyte Precursor Cells/metabolism*

Objective:To evaluate the efficacy and safety of endoscopic submucosal dissection (ESD) for the treatment of ileocecal valve lipoma.Methods:A retrospective cohort study was performed on data of ileocecal lipoma patients who underwent ESD at the Endoscopy Center of Zhongshan Hospital, Fudan University from December 2013 to June 2023. According to the lesion location, the patients were divided into ileocecal valve group and cecum group. The operation time, operation speed, en bloc resection rate, complications, and follow-up outcomes between the two groups were compared.Results:A total of 59 patients with ileocecal lipoma were enrolled, including 31 patients in the ileocecal valve group and 28 patients in the cecum group.There were no significant differences in gender, age, specimen size, or lesion size between the two groups ( P>0.05). Lipomas in both the ileocecal valve group and the cecum group were successfully resected by ESD. The en bloc resection rates were 100.0% (31/31) and 92.9% (26/28) respectively, and the difference was not statistically significant ( χ2=0.033, P=0.133). Median operative duration significantly differed between the two groups ( ileocecal valve group 26 min VS cecum group 20 min, Z=-0.136, P=0.027), as did resection speed (ileocecal valve group 0.14 cm2/min VS cecum group 0.24 cm2/min, Z=-0.223, P=0.022). Adverse events included one postoperative fever in the ileocecal valve group and one delayed bleeding in the cecum group. During the median follow-up of 38 months (7-106 months), there was no case of residual tumor or recurrence. Conclusion:Despite technical challenges in ESD of ileocecal valve lipoma, it is still a safe, feasible and effective treatment method.

Objective To explore the feasibility and clinical value of endoscopic resection of duodenal papilla tumors with a maximum diameter greater than 3 cm. Methods A retrospective analysis was conducted on the clinical data of all 12 patients who underwent endoscopic resection of duodenal papilla tumors at the Endoscopy Center of Zhongshan Hospital (Xuhui Hospital), Fudan University and Rongcheng Hospital of Traditional Chinese Medicine from September 2017 to May 2023. The size of the tumors all exceeded 3 cm. Results All 12 patients successfully completed the operation, with a complete resection rate of 91.7% (11/12) and an en-bloc resection rate of 91.7% (11/12). One patient experienced delayed bleeding due to unclosed wound during operation and received endoscopic hemostasis; 11 cases underwent partial wound closure operation with pancreatic and biliary stent placement, without perforation or postoperative stenosis. Among them, 2 cases (18.2%) experienced delayed bleeding and received endoscopic hemostasis treatment. After operation, 1 case (8.3%) experienced nausea, vomiting, upper abdominal discomfort, and elevated blood amylase levels, who was later treated conservatively. During the mean follow-up period of 30.5 (1.0-69.0) months, 1 patient experienced recurrence and underwent surgical resection. Conclusions Endoscopic resection of duodenal papilla tumors can treat large diameter duodenal papilla tumors exceeding 3 cm, but postoperative complications may occur and require special attention. Postoperative placement of pancreatic and biliary stents and wound closure may reduce the incidence of complications.

Objective To explore the correlation of traditional Chinese medicine(TCM)syndrome elements with language function and activities of daily living(ADL)in patients suffering post-stroke aphasia(PSA).Methods Ninety-eight PSA patients hospitalized at the College of Rehabilitation Medicine,Fujian University of Traditional Chinese Medicine from April 2023 to April 2024 were selected.The language function,TCM syndrome elements,and their correlations were analyzed.Results(1)Among PSA patients,males outnumbered females.PSA patients exhibited different performances on various aphasia-related scales,with language impairments mainly concentrated in naming and spontaneous speech.(2)The distribution of TCM syndrome elements varied in PSA patients with different age groups.In the age group＜50 years old,qi obstruction(100.00%),phlegm syndrome(100.00%),and dampness syndrome(100.00%)were predominant.In the age group of 50-59 years old,phlegm syndrome(100.00%)and yang hyperactivity syndrome(96.30%)were predominant.In the age group of 60-69 years old,phlegm syndrome(100.00%)and yang hyperactivity syndrome(96.15%)were also predominant.In the age group of 70-79 years old,qi deficiency syndrome(100.00%)was predominant.In the age group of 80-89 years old,syndromes such as qi insecurity,qi obstruction,qi deficiency,phlegm,yang hyperactivity,blood stasis,wind stirring,and blood cold were concentrated(all 100.00%).However,there were no statistically significant differences in the distribution of TCM syndrome elements among various age groups(P＞0.05).(3)The distribution of deficiency and excess syndrome elements varied in PSA patients with different genders.Among deficiency syndrome elements,yang hyperactivity,qi deficiency,and yin deficiency were predominant in males,while yang hyperactivity,qi deficiency,and blood deficiency were predominant in females.Among excess syndrome elements,phlegm syndrome,qi obstruction,and dampness syndrome were predominant in males,while phlegm syndrome,qi obstruction,and qi stagnation syndrome were predominant in females.However,there were no statistically significant differences in the distribution of deficiency and excess syndrome elements between genders(P＞0.05).(4)After controlling the factors of age group and gender,partial correlation analysis of syndrome elements and language function showed that among the disease-location syndrome elements,spontaneous naming(r=-0.588,P=0.027)and sematic cued naming(r=-0.558,P=0.038)in the Boston Naming Test(BNT)were negatively correlated with the large intestine;among the disease-nature syndrome elements,BNT sematic cued naming(r=0.821,P＜0.001)was positively correlated with qi sinking,while BNT spontaneous naming was negatively correlated with blood heat(r=-0.544,P=0.044)and was positively correlated with fluid depletion(r=0.860,P=0.028);BNT recognitive naming was positively correlated with external wind(r=0.966,P=0.034);errors in BNT sematic cued naming were negatively correlated with qi sinking(r=-0.540,P=0.005);the Modified Barthel Index(MBI)was positively correlated with essence deficiency(r=0.572,P=0.021).Conclusion The TCM syndrome elements of phlegm,qi block,yang hyperactivity,and qi deficiency are commonly seen in PSA patients.There is a certain correlation of language function and ADL with TCM syndrome elements in PSA patients.

With the rapid development of information technology,WeChat official accounts have emerged as an essential tool in the education sector,standing out among numerous platforms due to their simplicity and versatile functions.This paper examines the chal-lenges in traditional orthodontic practice teaching and explores innovative approaches and practical outcomes of empowering undergradu-ate orthodontic practice teaching through WeChat official accounts.Educators utilize the platform to upload instructional videos on arch-wire bending,creating a"mobile and shared"teaching platform that provides students with additional support for self-learning and clin-ical practice.Through personalized instruction,students develop a"mind-eye-hand"three-dimensional operational skillset.The study reveals that empowering orthodontic education with WeChat official accounts effectively enhances students' learning interest,optimizes classroom time,and facilitates a mutual workload reduction for both teachers and students during teaching reforms.Furthermore,it pro-motes the homogenization,flexibility,and ecological development of teaching content.This model demonstrates promising application prospects and offers new ideas and practical pathways for digital innovation and transformation in dental education.

With the rapid development of information technology,WeChat official accounts have emerged as an essential tool in the education sector,standing out among numerous platforms due to their simplicity and versatile functions.This paper examines the chal-lenges in traditional orthodontic practice teaching and explores innovative approaches and practical outcomes of empowering undergradu-ate orthodontic practice teaching through WeChat official accounts.Educators utilize the platform to upload instructional videos on arch-wire bending,creating a"mobile and shared"teaching platform that provides students with additional support for self-learning and clin-ical practice.Through personalized instruction,students develop a"mind-eye-hand"three-dimensional operational skillset.The study reveals that empowering orthodontic education with WeChat official accounts effectively enhances students' learning interest,optimizes classroom time,and facilitates a mutual workload reduction for both teachers and students during teaching reforms.Furthermore,it pro-motes the homogenization,flexibility,and ecological development of teaching content.This model demonstrates promising application prospects and offers new ideas and practical pathways for digital innovation and transformation in dental education.

Objective:To evaluate the efficacy and safety of endoscopic submucosal dissection (ESD) for the treatment of ileocecal valve lipoma.Methods:A retrospective cohort study was performed on data of ileocecal lipoma patients who underwent ESD at the Endoscopy Center of Zhongshan Hospital, Fudan University from December 2013 to June 2023. According to the lesion location, the patients were divided into ileocecal valve group and cecum group. The operation time, operation speed, en bloc resection rate, complications, and follow-up outcomes between the two groups were compared.Results:A total of 59 patients with ileocecal lipoma were enrolled, including 31 patients in the ileocecal valve group and 28 patients in the cecum group.There were no significant differences in gender, age, specimen size, or lesion size between the two groups ( P>0.05). Lipomas in both the ileocecal valve group and the cecum group were successfully resected by ESD. The en bloc resection rates were 100.0% (31/31) and 92.9% (26/28) respectively, and the difference was not statistically significant ( χ2=0.033, P=0.133). Median operative duration significantly differed between the two groups ( ileocecal valve group 26 min VS cecum group 20 min, Z=-0.136, P=0.027), as did resection speed (ileocecal valve group 0.14 cm2/min VS cecum group 0.24 cm2/min, Z=-0.223, P=0.022). Adverse events included one postoperative fever in the ileocecal valve group and one delayed bleeding in the cecum group. During the median follow-up of 38 months (7-106 months), there was no case of residual tumor or recurrence. Conclusion:Despite technical challenges in ESD of ileocecal valve lipoma, it is still a safe, feasible and effective treatment method.

To investigate the feasibility and safety of endoscopic trans-gastric cholecystolithotomy(ETGC) combined with endoscopic retrograde cholangiopancreatography (ERCP) for cholecystolithiasis and choledocholithiasis. Data of patients with cholecystolithiasis and choledocholithiasis who underwent ETGC after ERCP in Zhongshan Hospital Affiliated to Fudan University from November 2018 to April 2019 were analyzed. Six patients with cholecystolithiasis and choledocholithiasis, 4 males and 2 females, were included in this study.The interval between ERCP and ETGC ranged from 1 to 77 days (median 5 days). All the 6 patients successfully completed ETGC after ERCP, with a surgical success rate of 100%. All the patients had multiple cholecystolithiasis and one patient was complicated with gallbladder polyps.The ETGC operation time was 22-100 min (median 65 min), and the length of hospital stay was 3-9 d (median 6.5 d). Two patients had dull pain in the upper abdomen and increased body temperature after surgery. Abdominal ultrasound in one patient suggested local effusion in the right upper abdomen.Both patients improved after conservative treatment.None of the patients had cholecystitis and cholangitis related symptoms such as right upper abdominal pain or fever during postoperative follow-up, and the follow-up rate was 100%with median follow-up time of 18 month.All the 6 patients underwent abdominal ultrasound examination after surgery. No recurrence occurred in 5 patients. One of the patients showed cholesterol crystals in the gallbladder wall and bile mud deposition.ETGC combined with ERCP is safe and feasible for cholecystolithiasis and choledocholithiasis.

Objective:To explore the necessity and safety of selective endoscopy to detect gastrointestinal (GI) malignancy during the outbreak of coronavirus disease 2019 (COVID-19).Methods:A retrospective cohort study was carried out to analyze the clinical data of selective endoscopy performed at the Endoscopic Center, Zhongshan Hospital of Fudan University from February 20 to March 6, 2020. Clinical data included epidemiological questionnaire, chief complaints, endoscopic findings and biopsy pathology results, etc. All medical staff had blood test for IgM/IgG antibodies of COVID-19. Patients and their families were followed up by phone to determine whether they were infected with COVID-19. Meanwhile, the clinical data of selective endoscopy during the same period from February 20 to March 6, 2019 were collected as the control group to compare the overall results of endoscopy examinations during the epidemic and the detection rate of GI malignancy.Results:A total of 911 patients underwent endoscopy in the epidemic period group, and a total of 5746 cases in the control group, which was 6.3 times over the epidemic period group. In the epidemic period group, 544 cases received gastroscopy and 367 cases received colonoscopy, while 3433 cases received gastroscopy and 2313 cases received colonoscopy in the control group, which were both 6.3 times of epidemic period group. Gastroscopy revealed that 39 patients (7.2%) were diagnosed with upper GI malignancies in the epidemic period group and 77 patients (2.2%) in the control group with significant difference (χ 2=40.243, P<0.001). The detection rate of gastric cancer in these two groups was 3.3% ( n=18) and 1.7% ( n=59) respectively with significant difference (χ 2=6.254, P=0.012). The detection rate of esophageal cancer was 3.7% ( n=20) and 0.5% ( n=18) respectively with significant difference (χ 2=49.303, P<0.001). Colonoscopy revealed that colorectal cancer was found in 32 cases (8.7%) of the epidemic period group and 88 cases (3.8%) of the control group with significant difference (χ 2=17.888, P<0.001). During the epidemic period, no infection of medical staff was found through the blood test of IgM/IgG antibodies on COVID-19. No patient and family members were infected with COVID-19 by phone follow-up. Conclusion:Compared with the same period in 2019, the number of selective endoscopy decreases sharply during the epidemic period, while the detection rate of various GI malignant tumors increases significantly, which indicates that patients with high-risk symptoms of GI malignancies should still receive endoscopy as soon as possible. Provided strict adherence to the epidemic prevention standards formulated by the state and professional societies, it is necessary to carry out clinical diagnosis and treatment as soon as possible.

Objective:To explore the necessity and safety of selective endoscopy to detect gastrointestinal (GI) malignancy during the outbreak of coronavirus disease 2019 (COVID-19).Methods:A retrospective cohort study was carried out to analyze the clinical data of selective endoscopy performed at the Endoscopic Center, Zhongshan Hospital of Fudan University from February 20 to March 6, 2020. Clinical data included epidemiological questionnaire, chief complaints, endoscopic findings and biopsy pathology results, etc. All medical staff had blood test for IgM/IgG antibodies of COVID-19. Patients and their families were followed up by phone to determine whether they were infected with COVID-19. Meanwhile, the clinical data of selective endoscopy during the same period from February 20 to March 6, 2019 were collected as the control group to compare the overall results of endoscopy examinations during the epidemic and the detection rate of GI malignancy.Results:A total of 911 patients underwent endoscopy in the epidemic period group, and a total of 5746 cases in the control group, which was 6.3 times over the epidemic period group. In the epidemic period group, 544 cases received gastroscopy and 367 cases received colonoscopy, while 3433 cases received gastroscopy and 2313 cases received colonoscopy in the control group, which were both 6.3 times of epidemic period group. Gastroscopy revealed that 39 patients (7.2%) were diagnosed with upper GI malignancies in the epidemic period group and 77 patients (2.2%) in the control group with significant difference (χ 2=40.243, P<0.001). The detection rate of gastric cancer in these two groups was 3.3% ( n=18) and 1.7% ( n=59) respectively with significant difference (χ 2=6.254, P=0.012). The detection rate of esophageal cancer was 3.7% ( n=20) and 0.5% ( n=18) respectively with significant difference (χ 2=49.303, P<0.001). Colonoscopy revealed that colorectal cancer was found in 32 cases (8.7%) of the epidemic period group and 88 cases (3.8%) of the control group with significant difference (χ 2=17.888, P<0.001). During the epidemic period, no infection of medical staff was found through the blood test of IgM/IgG antibodies on COVID-19. No patient and family members were infected with COVID-19 by phone follow-up. Conclusion:Compared with the same period in 2019, the number of selective endoscopy decreases sharply during the epidemic period, while the detection rate of various GI malignant tumors increases significantly, which indicates that patients with high-risk symptoms of GI malignancies should still receive endoscopy as soon as possible. Provided strict adherence to the epidemic prevention standards formulated by the state and professional societies, it is necessary to carry out clinical diagnosis and treatment as soon as possible.