Objective:To evaluate the efficacy and safety of endoscopic variceal ligation (EVL) of esophageal varices combined with endoscopic variceal intensive ligation (EVIL) of gastric varices for gastroesophageal variceal bleeding with liver cirrhosis under non-emergency settings.Methods:Data of 643 consecutive patients with gastroesophageal variceal bleeding due to liver cirrhosis admitted to the Department of Gastroenterology, Henan Provincial People's Hospital from January 2017 to March 2023 were included in the retrospective study. A total of 192 patients were included after excluding 451 patients. One hundred and forty-nine patients who underwent EVL of esophageal varices combined with EVIL of gastric varices were enrolled into the EVIL group, while 43 patients who underwent EVL of esophageal varices combined with endoscopic tissue adhesive injection (ETAI) of gastric varices were enrolled into the ETAI group. The endoscopic treatment success rate, esophageal variceal ligations number, operation time of endoscopic treatment, hospitalization time, rebleeding rate, mortality and the incidence of adverse events were compared between the two groups.Results:Compared with the ETAI group, the EVIL group exhibited significantly higher endoscopic treatment success rate [100.0% (149/149) VS 95.3% (41/43), P=0.049], slightly greater esophageal variceal ligations number [8 (6, 11) rings VS 7 (6, 9) rings, Z=-1.29, P=0.196], shorter operation time of endoscopic treatment [27.0 (20.5, 34.0) min VS 36.0 (21.0, 51.0) min, Z=-2.30, P=0.021], and significantly shorter hospitalization time [10 (7, 13) d VS 13 (9, 15) d, Z=-3.02, P=0.003]. The rebleeding rate within 24, 72, 120 hours after the operation, early, delayed and total rebleeding in the EVIL group were 0.0% (0/149), 0.0% (0/149), 0.7% (1/149), 2.0% (3/149), 12.8% (19/149) and 14.8% (22/149) respectively, and 4.7% (2/43) ( P=0.049), 9.3% (4/43) ( P=0.002), 9.3% (4/43) ( χ2=6.69, P=0.010), 4.7% (2/43) ( χ2=0.17, P=0.679), 30.2% (13/43) ( χ2=7.34, P=0.007) and 44.2% (19/43) ( χ2=17.20, P<0.001) in the ETAI group, respectively. No death related to rebleeding occurred within 6 weeks after the operation in 2 groups. The mortality related to rebleeding within 1 year after the operation and during the follow-up period in the EVIL group were 1.3% (2/149) and 3.4% (5/149) respectively, and 0.0% (0/43) ( P=1.000) and 2.3% (1/43) ( χ2=0.02, P=0.876) in the ETAI group, respectively. The incidences of fever, chest pain, nausea or vomiting in the EVIL group were 12.1% (18/149), 14.1% (21/149) and 13.4% (20/149) respectively, and 11.6% (5/43) ( χ2=0.01, P=0.936), 16.3% (7/43) ( χ2=0.13, P=0.721) and 18.6% (8/43) ( χ2=0.72, P=0.396) in the ETAI group, respectively. Two patients (1.3%) in the EVIL group had gastric variceal ring loss. Ectopic embolism occurred in 1 patient (2.3%) in the ETAI group. Conclusion:For patients with gastroesophageal variceal bleeding due to liver cirrhosis who are suitable for non-emergency endoscopic treatment, EVL of esophageal varices combined with EVIL of gastric varices is also safe, and more effective than EVL of esophageal varices combined with ETAI of gastric varices. This approach offers improved treatment success rate, reduced operation and hospitalization time, lower rebleeding rates, and decreased rebleeding-related mortality.

Objective:To evaluate the efficacy and safety of endoscopic variceal ligation (EVL) of esophageal varices combined with endoscopic variceal intensive ligation (EVIL) of gastric varices for gastroesophageal variceal bleeding with liver cirrhosis under non-emergency settings.Methods:Data of 643 consecutive patients with gastroesophageal variceal bleeding due to liver cirrhosis admitted to the Department of Gastroenterology, Henan Provincial People's Hospital from January 2017 to March 2023 were included in the retrospective study. A total of 192 patients were included after excluding 451 patients. One hundred and forty-nine patients who underwent EVL of esophageal varices combined with EVIL of gastric varices were enrolled into the EVIL group, while 43 patients who underwent EVL of esophageal varices combined with endoscopic tissue adhesive injection (ETAI) of gastric varices were enrolled into the ETAI group. The endoscopic treatment success rate, esophageal variceal ligations number, operation time of endoscopic treatment, hospitalization time, rebleeding rate, mortality and the incidence of adverse events were compared between the two groups.Results:Compared with the ETAI group, the EVIL group exhibited significantly higher endoscopic treatment success rate [100.0% (149/149) VS 95.3% (41/43), P=0.049], slightly greater esophageal variceal ligations number [8 (6, 11) rings VS 7 (6, 9) rings, Z=-1.29, P=0.196], shorter operation time of endoscopic treatment [27.0 (20.5, 34.0) min VS 36.0 (21.0, 51.0) min, Z=-2.30, P=0.021], and significantly shorter hospitalization time [10 (7, 13) d VS 13 (9, 15) d, Z=-3.02, P=0.003]. The rebleeding rate within 24, 72, 120 hours after the operation, early, delayed and total rebleeding in the EVIL group were 0.0% (0/149), 0.0% (0/149), 0.7% (1/149), 2.0% (3/149), 12.8% (19/149) and 14.8% (22/149) respectively, and 4.7% (2/43) ( P=0.049), 9.3% (4/43) ( P=0.002), 9.3% (4/43) ( χ2=6.69, P=0.010), 4.7% (2/43) ( χ2=0.17, P=0.679), 30.2% (13/43) ( χ2=7.34, P=0.007) and 44.2% (19/43) ( χ2=17.20, P<0.001) in the ETAI group, respectively. No death related to rebleeding occurred within 6 weeks after the operation in 2 groups. The mortality related to rebleeding within 1 year after the operation and during the follow-up period in the EVIL group were 1.3% (2/149) and 3.4% (5/149) respectively, and 0.0% (0/43) ( P=1.000) and 2.3% (1/43) ( χ2=0.02, P=0.876) in the ETAI group, respectively. The incidences of fever, chest pain, nausea or vomiting in the EVIL group were 12.1% (18/149), 14.1% (21/149) and 13.4% (20/149) respectively, and 11.6% (5/43) ( χ2=0.01, P=0.936), 16.3% (7/43) ( χ2=0.13, P=0.721) and 18.6% (8/43) ( χ2=0.72, P=0.396) in the ETAI group, respectively. Two patients (1.3%) in the EVIL group had gastric variceal ring loss. Ectopic embolism occurred in 1 patient (2.3%) in the ETAI group. Conclusion:For patients with gastroesophageal variceal bleeding due to liver cirrhosis who are suitable for non-emergency endoscopic treatment, EVL of esophageal varices combined with EVIL of gastric varices is also safe, and more effective than EVL of esophageal varices combined with ETAI of gastric varices. This approach offers improved treatment success rate, reduced operation and hospitalization time, lower rebleeding rates, and decreased rebleeding-related mortality.

Objective To conduct a retrospective study on the clinical efficacy with endoscopic linea alba plication (ELAP) in the treatment of postpartum diastasis recti abdominis muscles. Methods Clinical data was collected to study the patients with postpartum diastasis recti abdominis muscles treated by ELAP in our hospital from January 2018 to December 2021. The operation was performed successfully in 48 cases. One case was lost follow-up and 47 cases were included in this study. Mean age was (34.9±4.2) years with body mass index (BMI) (20.1±2.0) kg/m2. The index of patients included general data, intraoperative data and postoperative recovery. Follow-up was done through out-patient examination and B-mode ultrasonography until to March 2022. Results The inter-rectus distance (IRD) in umbilical area (M3) shown by ultrasound examination was (41.6±8.2) mm. There were 10 cases combined with umbilical hernia and 2 cases with linea alba hernia. ELAP was performed under general anesthesia. All hernia rings were closed by suturing. The operative time was (130.9±36.0) min. Visual analog scale was (1.2±0.6) on the 1st postoperative day with postoperative hospital stay (1.5±0.9) d. Two cases had mild seroma postoperatively with puncture and absorption under B-ultrasound guiding. Remaining cases were without operative complications such as bleeding and infection of incision. Followed up of 47 cases was completed in the period of median 15(12, 26) months. One case had mild pain in the operative site and cured after non-operative treatment. Ultrasound examination in the other case showed 57.0 mm of IRD in M3 area preoperative and normal in the follow-up of 1 month postoperative. However, there was mild recurrence on 3 months of follow-up showing IRD 21.0 mm. Conclusions ELAP could be considered safe and effective in the treatment of postpartum diastasis recti abdominis muscle.

Objective: To summarize the clinicopathological features of cystic meningioangiomatosis. Methods: The clinical manifestations, imaging characteristics and pathological features of a case of cystic meningioangiomatosis were analysed, and the relevant literature was reviewed. Results: A 16-year-old male patient from Xuanwu Hospital, Capital Medical University had a history of epileptic seizures for more than three months. Magnetic resonance imaging (MRI) demonstrated a cystic mass in the left frontal lobe with long T₁ and long T₂ signals. Extensive resection of the upper frontal gyrus was performed. The excised lesion presented with a cystic shape after incision and contained colorless translucent liquid. Microscopic examination of the lesion showed that the number of blood vessels in the local cortex of the brain tissue was increased and the vessels appeared to be branching. The blood vessel walls were surrounded by proliferative spindle cells, which were arranged in concentric circles. Immunohistochemical study revealed that those spindle cells and the cyst wall were vimentin positive. These cells had a rich reticular fibers. Ten months after the operation, the general condition of the patient was good, no epileptic seiƶure was observed, and the follow-up MRI did not reveal any residual lesion. Conclusions MRI of cystic meningioangiomatosis shows cystic space occupying. Pathological findings show typical features of meningioangiomatosis and cystic space formation. Cystic meningioangiomatosis has good prognosis after surgical resection.

Objective:To explore influence on physical development of children aged 18 months from HIV-positive mothers for prevention mother to child transmission of HIV (PMTCT) in Guangxi Zhuang autonomous region, and provide evidence for the improvement PMTCT program.Methods:This retrospective case control study was conducted in 554 HIV negative infants aged 18 months whose HIV positive mothers had received PMTCT services reported through PMTCT system database from January 1, 2010 to December 31, 2017 and 1 109 healthy infants born in 2017, whose mothers were healthy, in Lingshan, Luzhai, and Hengxian counties, ranking top three counties with high HIV infection prevalence, in Guangxi. PMTCT data and physical development data such as height, weight and head circumference of children aged 18 months were collected. The physical dysplasia in the infants was defined as at least one of the three main indicators of height, weight and head circumference below the normal range.Results:The number of HIV-positive mother and their infants in the case group were 667 and 554 respectively, and the PMTCT rates were 91.15 % (608/667) and 96.57 % (535/554) respectively. HIV positive rate, mortality rate and mother to child transmission rate of the infants aged 18 months were 1.44 % (8/554), 3.07 % (17/554) and 1.91 % (8/418) respectively, and the physical examination results of the infants aged 18 months showed that the physical dysplasia rate was 30.51 % (169/554). Among the 1 109 infants in the control group, the physical dysplasia rate was 9.83 % (109/1 109). The difference between the case group and the control group was significant ( P<0.01). Conclusion:The PMTCT rates of HIV positive mother and their children were more than 90.00 %, respectively. However, poor physical development rate of infants aged 18 months were more than 30.00 %. The possible influence of PMTCT on physical development of the infants aged 18 months of HIV positive mother’s needs to be further studied.

Objective To investigate the clinical pathologic features of a distinct variant of focal cortical dysplasia (FCD) characterized by neuronal loss of layer four.Methods Between 2005 and 2017,approximately 3 000 surgeries were performed for the treatment of intractable epilepsy at Xuanwu Hospital,Capital Medical University and Yuquan Hospital,Tsinghua University.Retrospective analysis of clinic-pathological data of patients with epilepsy surgery was made and histological manifestations of neuronal loss of cortical layer four were included in this study.Results In this cohort,25 patients (22 males and three females) were identified with early onset pharmaco-resistant epilepsy and regionally circumscribed neuronal loss of cortical layer four in surgical specimens from the occipital lobe.Histologically,except for neuronal loss in cortical layer four in all cases,glial scar lesions were found in some patients.Thus the histology of those cases can be subdivided into two groups:group A (13 cases):neuronal loss of cortical layer four without glial scar lesions;and group B (12 cases):neuronal loss of cortical layer four with glial scar lesions.Due to the prominent horizontal disorganization of cortical layering and lack of any other microscopically visible principle lesion,group A should be classified hitherto as FCD International League Against Epilepsy (ILAE) type Ⅰ b,however,group B with scar lesions and cortical dysplasia around the main leision,should be classified as FCD ILAE type Ⅲd.This retrospective analysis of clinical histories revealed a perinatal distress in 20 patients (80％),suggesting an acquired pathomechanism.Magnetic resonance imaging revealed abnormal signals in the occipital lobe in all patients,and signal changes suggestive of encephalomalacia were found in 18 patients.Surgical treatment achieved favorable seizure control (Engel class Ⅰ and Ⅱ) in 18 patients (75％ among 24 available follow up).Comparion of the two groups with age at epilepsy onset (group A:5.00±2.76,group B:5.01±3.78),the proportion of perinatal distress (group A:11/13,group B:9/12) and the follow-up results (favorable seizure control of the two groups was 9/13,9/11 respectively) showed that there was no statistically significant difference between the two groups.Conculsion Neuronal loss of cortical layer four in the occipital lobe should be classified as a distinct variant of FCD ILAE type Ⅲd.

PURPOSE: This study aimed to investigate the effects of PIK3CA on the sensitivity of acute B lymphocytic leukemia cells (Nalm-6 cells) to chemotherapy drugs. MATERIALS AND METHODS: Children's normal B lymphocytes and Nalm-6 cells were cultured. Nalm-6 cells were transfected with PIK3CA siRNA (siPIK3CA group) or its negative control (PIK3CA-Control group). Normal Nalm-6 cells were named Mock group. Nalm-6 cells transfected by PIK3CA siRNA were treated with Akt inhibitor (siPIK3CA+Akti-1/2 group). mRNA and protein expression was detected by qRT-PCR and Western blot. Proliferation and sensitivity to chemotherapeutic drugs was detected by MTT assay. Cell cycle and apoptosis was explored by low cytometry. Transwell assay was performed to test invasion. RESULTS: PIK3CA mRNA (p=0.008) and protein (p=0.006) expression was higher in Nalm-6 cells than that in normal B lymphocytes. Compared with the Mock group and PIK3CA-Control group, Nalm-6 cells of the siPIK3CA group had lower OD495 values (all p < 0.05) and invasion cell numbers (p=0.03 and p=0.025), as well as a higher proportion of G0/G1 phase cells (p=0.020 and p=0.022), percentage of apoptosis (p=0.016 and p=0.022), and inhibition rate (all p < 0.05). pAkt expression in the siPIK3CA group (p=0.026 and p=0.031) and siPIK3CA+Akti-1/2 group (p=0.019 and p=0.023) was lower than that in the Mock group. CONCLUSION: PIK3CA silencing inhibited Nalm-6 cell proliferation and invasion, and promoted their apoptosis and sensitivity to chemotherapeutic drugs, potentially through regulation of the PI3K/AKT signaling pathway.
Apoptosis ; B-Lymphocytes ; Blotting, Western ; Cell Count ; Cell Cycle ; Cell Proliferation ; Drug Therapy ; Leukemia ; Leukemia, B-Cell ; Phosphorylation ; RNA, Messenger ; RNA, Small Interfering

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease with cellular and molecular mechanisms yet to be fully described. Mutations in a number of genes including SOD1 and FUS are associated with familial ALS. Here we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts of familial ALS patients bearing SOD1 and FUS mutations, respectively. We further generated gene corrected ALS iPSCs using CRISPR/Cas9 system. Genome-wide RNA sequencing (RNA-seq) analysis of motor neurons derived from SOD1 and corrected iPSCs revealed 899 aberrant transcripts. Our work may shed light on discovery of early biomarkers and pathways dysregulated in ALS, as well as provide a basis for novel therapeutic strategies to treat ALS.
Amyotrophic Lateral Sclerosis ; genetics ; metabolism ; therapy ; Cell Line ; Clustered Regularly Interspaced Short Palindromic Repeats ; Genetic Therapy ; Genome-Wide Association Study ; Humans ; Induced Pluripotent Stem Cells ; metabolism ; Mutation, Missense ; RNA-Binding Protein FUS ; genetics ; metabolism ; Superoxide Dismutase-1 ; genetics ; metabolism

Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.
DNA Damage ; DNA Repair ; DNA-Binding Proteins ; genetics ; metabolism ; Female ; Humans ; Induced Pluripotent Stem Cells ; metabolism ; pathology ; Male ; Models, Biological ; Mutation ; Neural Stem Cells ; metabolism ; pathology ; Xeroderma Pigmentosum ; genetics ; metabolism ; pathology

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cell Culture Techniques ; methods ; Child ; Female ; Humans ; Induced Pluripotent Stem Cells ; cytology ; metabolism ; Male ; Middle Aged