Background and purpose:Accurately locating pulmonary nodules is the key to the success of thoracoscopic surgery.This study aimed to investigate the strategy and evaluate the feasibility,safety,and clinical value of thoracoscopic surgical treatment for pulmonary nodules located beneath the interlobar pleura and close to the pulmonary hilum.Methods:The patients who underwent pulmonary nodule surgery at Liaocheng Tumor Hospital from May 2023 to November 2024 were enrolled,and the patients who did not meet the inclusion criteria were excluded.This study was approved by the Ethics Committee of Liaocheng Tumor Hospital(EC-20240112-1020)and informed consent was obtained from the patients.The research was designed as a prospective single-arm study.The patients were treated with wedge resection,which was performed following CT-guided localization,where the location needle was inserted through the interlobar pleura.The feasibility of the procedure was evaluated by analyzing the success rate of preoperative localization and perioperative complications.Results:A total of 28 patients who met the inclusion criteria were included in this study.There were 5 male and 23 female patients with an average age of(56.0±8.5)years(range 38-69 years).In all,28 patients with 28 nodules underwent thoracoscopic wedge resection,and the preoperative CT-guided localization was successfully performed in all patients,without urgent complications.The mean operation time of thoracoscopic surgery was(15.6±4.0)min,intraoperative bleeding was(20.9±14.3)mL,and postoperative drainage was(214.3±62.2)mL.No cases of postoperative air leaks or conversion to thoracotomy were observed.The average length of hospital stay was(5.4±0.9)days.The postoperative histological diagnosis revealed 3 benign lesions(pulmonary fibrosis in 2 cases,atypical adenomatous hyperplasia in 1 case)and 25 malignant lesions(adenocarcinoma in situ in 5 cases,minimally invasive adenocarcinoma in 16 cases,and invasive adenocarcinoma in 4 cases).Conclusion:Thoracoscopic wedge resection following CT-guided nodule localization through the interlobar pleura is a feasible approach for nodules located beneath the interlobar pleura and close to the pulmonary hilum.The method ensures precise tumor localization,adequate margin,and minimal loss of normal lung tissue,with a low incidence of postoperative complication,which has important guiding significance for the surgical treatment of pulmonary nodules in such special locations.

Background and purpose:Accurately locating pulmonary nodules is the key to the success of thoracoscopic surgery.This study aimed to investigate the strategy and evaluate the feasibility,safety,and clinical value of thoracoscopic surgical treatment for pulmonary nodules located beneath the interlobar pleura and close to the pulmonary hilum.Methods:The patients who underwent pulmonary nodule surgery at Liaocheng Tumor Hospital from May 2023 to November 2024 were enrolled,and the patients who did not meet the inclusion criteria were excluded.This study was approved by the Ethics Committee of Liaocheng Tumor Hospital(EC-20240112-1020)and informed consent was obtained from the patients.The research was designed as a prospective single-arm study.The patients were treated with wedge resection,which was performed following CT-guided localization,where the location needle was inserted through the interlobar pleura.The feasibility of the procedure was evaluated by analyzing the success rate of preoperative localization and perioperative complications.Results:A total of 28 patients who met the inclusion criteria were included in this study.There were 5 male and 23 female patients with an average age of(56.0±8.5)years(range 38-69 years).In all,28 patients with 28 nodules underwent thoracoscopic wedge resection,and the preoperative CT-guided localization was successfully performed in all patients,without urgent complications.The mean operation time of thoracoscopic surgery was(15.6±4.0)min,intraoperative bleeding was(20.9±14.3)mL,and postoperative drainage was(214.3±62.2)mL.No cases of postoperative air leaks or conversion to thoracotomy were observed.The average length of hospital stay was(5.4±0.9)days.The postoperative histological diagnosis revealed 3 benign lesions(pulmonary fibrosis in 2 cases,atypical adenomatous hyperplasia in 1 case)and 25 malignant lesions(adenocarcinoma in situ in 5 cases,minimally invasive adenocarcinoma in 16 cases,and invasive adenocarcinoma in 4 cases).Conclusion:Thoracoscopic wedge resection following CT-guided nodule localization through the interlobar pleura is a feasible approach for nodules located beneath the interlobar pleura and close to the pulmonary hilum.The method ensures precise tumor localization,adequate margin,and minimal loss of normal lung tissue,with a low incidence of postoperative complication,which has important guiding significance for the surgical treatment of pulmonary nodules in such special locations.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

Hepatic ischemia/reperfusion injury (HIRI) is a serious complication that occurs following shock and/or liver surgery. Gut microbiota and their metabolites are key upstream modulators of development of liver injury. Herein, we investigated the potential contribution of gut microbes to HIRI. Ischemia/reperfusion surgery was performed to establish a murine model of HIRI. 16S rRNA gene sequencing and metabolomics were used for microbial analysis. Transcriptomics and proteomics analysis were employed to study the host cell responses. Our results establish HIRI was significantly increased when surgery occurred in the evening (ZT12, 20:00) when compared with the morning (ZT0, 08:00); however, antibiotic pretreatment reduced this diurnal variation. The abundance of a microbial metabolite 3,4-dihydroxyphenylpropionic acid was significantly higher in ZT0 when compared with ZT12 in the gut and this compound significantly protected mice against HIRI. Furthermore, 3,4-dihydroxyphenylpropionic acid suppressed the macrophage pro-inflammatory response in vivo and in vitro. This metabolite inhibits histone deacetylase activity by reducing its phosphorylation. Histone deacetylase inhibition suppressed macrophage pro-inflammatory activation and diminished the diurnal variation of HIRI. Our findings revealed a novel protective microbial metabolite against HIRI in mice. The potential underlying mechanism was at least in part, via 3,4-dihydroxyphenylpropionic acid-dependent immune regulation and histone deacetylase (HDAC) inhibition in macrophages.

【Objective】 To analyze the polymorphism of erythrocyte membrane blood group glycoprotein A (GPA) related gene GYPA in high and low endemic population for clonidia sinensis infection, aimed at investigating the correlation between erythrocyte transmembrane glycoproteins and clonorchis sinensis infection. 【Methods】 From Dec 2019 to Jun 2020, anticoagulant blood samples were randomly collected in WuMing district (n=700) and GuiGang district (n=500 ) of Nanning city, and the IgG antibody to clonorchis sinensis in plasma was detected, and the DNA of leukocyte was extracted. The full-length exon and partial intron of GYPA gene were sequenced, mutations were characterized by gene cloning, and the risk of infection was calculated by chi-square test. 【Results】 The yield rate of IgG antibody was 62.7% (439/700) in WuMing district and 3.4% (17/500) in GuiGang district(P<0.05). The insertion of base C at the 54th position of intron-2 in GYPA gene caused the reading frame shift. The mutation was presented in 23.9% (105/439) and 17.6% (3/17) of the population with clonorchis sinensis exposure in WuMing and GuiGang area, respectively, while 49.4% (129/261) and 54.7% (264/483) in the negative population, respectively (P<0.05). 【Conclusion】 The infection rate of clonorchis sinensis in WuMing district was higher than that in GuiGang district. The mutation rate of reading frame shift caused by the insertion of base C at the 54th position of GYPA intron-2 was much lower in the positive population of clonorchis sinensis infection than the negative population, suggesting that the mutation is a protective gene in the negative population of clonorchis sinensis infection. It is necessary to study the mechanism of clonorchis sinensis infection and the mutation point of this gene in order to facilitate the early diagnosis of disease, blood transfusion management, treatment and prevention.

Objective: To investigate the awareness of pubertal knowledge and its influencing factors among primary school students in Chinese rural areas, and to provide evidences for improving awareness level and popularizing scientific, reasonable, and suitable sex education. Methods: Sixteen primary schools consisting of rural registered students in Guizhou and Anhui Province were selected by multi-stage cluster sampling method, and a questionnaire survey for 2 506 senior students (grade five and six) was conducted to explore the awareness of pubertal knowledge and its influencing factors among primary school students in Chinese rural areas. Results: The total awareness rate of pubertal knowledge was 62.7% among primary school students in Guizhou and Anhui rural areas, and the awareness rates were relatively low for the questions about the difference between male and female pubertal development and understanding of sexual attitude; female students, only-child students and grade six students got a bit better awareness of pubertal knowledge than male students, non-only-child students and grade five students respectively; grade[OR=0.72(0.61-0.86)], peer acceptance [OR=0.70(0.53-0.96)], family intimacy [OR=0.75(0.63-0.88)] had effect on awareness of pubertal knowledge. Conclusion The awareness of pubertal knowledge among primary school students in Guizhou and Anhui rural areas need further improvement, especially for male students, non-only-child students and grade five students in the questions about the difference between male and female pubertal development and understanding of sexual attitude. It is necessary to improve the awareness of pubertal knowledge by enhancing peer acceptance, promoting family intimacy, and popularizing scientific, reasonable, and suitable sex education.

This paper summarized the etiology of pressure ulcers in traditional Chinese medicine, the stages of pressure ulcers, the mechanism of action of moxibustion therapy in treating pressure ulcers as well as the status quo of the application of moxibustion therapy in patients with pressure ulcers and looked into its deficiencies, so as to provide a reference for improving the moxibustion therapy for patients with pressure ulcers.

Objective:To analyze the expression of the four mismatch repair genes protein (hMLH1,hMSH2,hMSH6 and hPMS2) of patients with colorectal cancer and its clinical significance.Methods:177 cases of patients with colorectal caner in the Third Affiliated Hospital of Guangzhou Medical University from January 2013 to December 2015 were randomly selected.Tested the expression of the hMLH1,hMSH2,hMSH6 and hPMS2 by immunohistochemistry,the relationship between protein expression and clinical parameters was analyzed.Results:Among 177 cases ofcolorectal cancer tissue,the deletion rate ofhMLH1 protein was 6.2％ (11/177),the deletion rate of hMLH2 protein was 4.0％(7/177),the deletion rate of hMSH6 protein was 1.7％(3/177),the deletion rate of hPMS2 protein was 8.0％(14/177),the sum of the four values accounted for 19.8％(35/177) of all cases of colorectal cancer.The loss of expression of the four mismatch repair genes protein were correlated to tumor location (P＜0.05),besides,the loss of expression of the hMLH1 and hPMS2 protein were correlated to degree of tumor differentiation (P＜0.05),he loss of expression of the hMSH6 protein were correlated to depth of tumor invasion(P＜0.05);But the loss was not correlated to age,sexes,lymph node metastasis and distant metastasis(P＞0.05).Conclusion:The expression of loss phenomenon with mismatch repair protein appears in part of colorectal cancer,the loss phenomenon with mis match repair protein were correlated to tumor location and degree of tumor differentiation.Mutations of four genes in hMLH1,hPMS2,hMSH6 and bMSH2,to provide a reference value for the clinical judgment of prognosis and to develop a treatment plan.