Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China / 中国当代儿科杂志

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Clinical features, gene analysis and prenatal diagnosis with NDP gene mutation in a family / 中华眼底病杂志

Objective:To observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. Methods:A pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation. Results:Proband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. Conclusions:The hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.

Recommendations for the diagnosis and treatment of maternal SARS-CoV-2 infection / 中华围产医学杂志

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has spread worldwide and threatened human's health. With the passing of time, the epidemiology of coronavirus disease 2019 evolves and the knowledge of SARS-CoV-2 infection accumu-lates. To further improve the scientific and standardized diagnosis and treatment of maternal SARS-CoV-2 infection in China, the Chinese Society of Perinatal Medicine of Chinese Medical Association commissioned leading experts to develop the Recommendations for the Diagnosis and Treatment of Maternal SARS-CoV-2 Infection under the guidance of the Maternal and Child Health Department of the National Health Commission. This recommendations includes the epidemiology, diagnosis, management, maternal care, medication treatment, care of birth and newborns, and psychological support associated with maternal SARS-CoV-2 infection. It is hoped that the recommendations will effectively help the clinical management of maternal SARS-CoV-2 infection.

Effect of CKIP-1 on hepatocyte apoptosis in nonalcoholic fatty liver disease / 中华内科杂志

Objective:To explore the effect and underlying mechanism of casein kinase 2 interacting protein-1 (CKIP-1) on hepatocyte apoptosis in nonalcoholic fatty liver disease (NAFLD).Methods:Experimental study. An NAFLD cell model was established by inducing human hepatoma cell line, HepG 2 cells, with oleic acid (OA). Flag-CKIP-1 expression vector and shRNA-CKIP-1 were transfected into HepG 2 cells. Flow cytometry was used to detect the effect of CKIP-1 on the activity and apoptosis of NAFLD hepatocytes. The levels of apoptosis-related proteins were detected by Western blot. CKIP-1 knockout mice in C57BL/6 back-ground were fed with either standard or high-fat diet for 8 weeks. Apoptosis-related signal proteins in NAFLD hepatocytes were detected by immunohistochemistry. Results:After CKIP-1 was transfected into HepG 2 cells, the degree of OA induced cell liposis was significantly reduced ( P<0.05). Annexin V-FITC/PI flow cytometry showed that CKIP-1 reduced the apoptosis of steatotic hepatocytes. Overexpression of CKIP-1 could significantly inhibit the expression of caspase-3 and caspase-9 and increase the expression of Bcl-2/Bax ( P<0.05). Knockdown of CKIP-1 could increase the expression of caspase-3 and caspase-9 ( P<0.05). CKIP-1 knockout could further increase the expression of caspase-3 and caspase-9 in NAFLD mice ( P<0.01, P<0.05), and further decrease the expression of Bcl-2/Bax ( P<0.05). Conclusion:CKIP-1 inhibited the apoptosis of steatotic hepatocytes by up-regulating the expression of apoptosis inhibitor gene, Bcl-2/Bax, and affecting the proteases, caspase-3 and caspase-9.

Study on ameliorative effect of IDHP on excessive fat accumulation in hepatocytes / 中国药理学通报

Aim To explore whether isopropyl3-(3, 4-dihydroxyphenyl) -2-hydroxypropanoate (IDHP) could inhibit fat accumulation in liver cells by improving mitochondrial function, and alleviate the symptom of excessive fat accumulation in patients with NAFLD. Methods Cell steatosis model was established by inducing hepatocyte fat accumulation using palmitic acid and oleic acid (PA: OA molar ratio =1

Reform and practice of Biopharmaceutical Technology Comprehensive Experiments in higher vocational colleges in the context of skills competition / 生物工程学报

Comprehensive experiments course is a bridge for higher vocational students to integrate theoretical knowledge with production practice. The article introduces that our biological pharmacy department is committed to the principles of "promotion of teaching, learning and construction through skills competition so as to integrate education and training". By taking penicillin fermentation process as an example, reform has been made in several aspects including teaching objectives, teaching content and teaching methods. We integrate the practical operation of fermentation equipment with virtual simulation software to develop a two-way interactive course. By reducing the subjective dependence, the quantitative management and evaluation of fermentation process parameter control were put into place, which efficiently integrated the skills competition with practical teaching. Improved teaching performance has been achieved over recent years, which may facilitate the reform and practice of similar courses based on skills competition.

Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1).@*METHODS@#A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.@*RESULTS@#The child's clinical features included abdominal distension, hepatomegaly, anemia and tendency of bleeding. By mass spectrometry analysis, her serum and urine tyrosine and succinylacetone levels have both exceeded the normal ranges. WES and Sanger sequencing revealed that she has harbored c.1062+5G>A and c.943T>C (p.Cys315Arg) compound heterozygous variants of the FAH gene, which were inherited from her father and mother, respectively. Among these, the c.943T>C was unreported previously.@*CONCLUSION@#Considering her clinical phenotype and result of genetic testing, the child was diagnosed with TYRSN1 (acute type). The compound heterozygous variants of the FAH gene probably underlay the disease in this child. Above finding has further expanded the spectrum of FAH gene variants, and provided a basis for accurate treatment, genetic counseling and prenatal diagnosis for her family.

Research Progress on Molecular Changes in Pulmonary Hypoxia and Cause of Death Identification in Mechanical Asphyxia / 法医学杂志

Lung is the largest organ of the respiratory system. During hypoxia, pulmonary cells undergo rapid damage changes and activate the self-rescue pathways, thus leading to complex biomacromolecule modification. Death from mechanical asphyxia refers to death due to acute respiratory disorder caused by mechanical violence. Because of the absence of characteristic signs in corpse, the accurate identification of mechanical asphyxia has always been the difficulty in forensic pathology. This paper reviews the biomacromolecule changes under the pulmonary hypoxia condition and discusses the possibility of application of these changes to accurate identification of death from mechanical asphyxia, aiming to provide new ideas for related research.

Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.@*METHODS@#A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing.@*RESULTS@#The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 μmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic.@*CONCLUSION@#The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.

Research progress in signaling pathways related to treatment of functional dyspepsia with traditional Chinese medicine / 中国中药杂志

Functional dyspepsia(FD) is a prevalent functional gastrointestinal disease characterized by recurrent and long-lasting symptoms that significantly impact the quality of life of patients. Currently, western medicine treatment has not made breakthrough progress and mainly relies on symptomatic therapies such as gastrointestinal motility agents, acid suppressants, antidepressants/anxiolytics, and psychotherapy. However, these treatments have limitations in terms of insufficient effectiveness and safety. Traditional Chinese medicine(TCM) possesses unique advantages in the treatment of FD. Through literature search in China and abroad, it has been found that the mechanisms of TCM in treating FD is associated with various signaling pathways, and research on these signaling pathways and molecular mechanisms has gradually become a focus. The main signaling pathways include the SCF/c-Kit signaling pathway, 5-HT signaling pathway, CRF signaling pathway, AMPK signaling pathway, TRPV1 signaling pathway, NF-κB signaling pathway, and RhoA/ROCK2/MYPT1 signaling pathway. This series of signaling pathways can promote gastrointestinal motility, alleviate anxiety, accelerate gastric emptying, reduce visceral hypersensitivity, and improve duodenal micro-inflammation in the treatment of FD. This article reviewed the research on TCM's regulation of relevant signaling pathways in the treatment of FD, offering references and support for further targeted TCM research in the treatment of FD.

Sex Estimation of Medial Aspect of the Ischiopubic Ramus in Adults Based on Deep Learning / 法医学杂志

OBJECTIVES@#To investigate the reliability and accuracy of deep learning technology in automatic sex estimation using the 3D reconstructed images of the computed tomography (CT) from the Chinese Han population.@*METHODS@#The pelvic CT images of 700 individuals (350 males and 350 females) of the Chinese Han population aged 20 to 85 years were collected and reconstructed into 3D virtual skeletal models. The feature region images of the medial aspect of the ischiopubic ramus (MIPR) were intercepted. The Inception v4 was adopted as the image recognition model, and two methods of initial learning and transfer learning were used for training. Eighty percent of the individuals' images were randomly selected as the training and validation dataset, and the remaining were used as the test dataset. The left and right sides of the MIPR images were trained separately and combinedly. Subsequently, the models' performance was evaluated by overall accuracy, female accuracy, male accuracy, etc.@*RESULTS@#When both sides of the MIPR images were trained separately with initial learning, the overall accuracy of the right model was 95.7%, the female accuracy and male accuracy were both 95.7%; the overall accuracy of the left model was 92.1%, the female accuracy was 88.6% and the male accuracy was 95.7%. When the left and right MIPR images were combined to train with initial learning, the overall accuracy of the model was 94.6%, the female accuracy was 92.1% and the male accuracy was 97.1%. When the left and right MIPR images were combined to train with transfer learning, the model achieved an overall accuracy of 95.7%, and the female and male accuracies were both 95.7%.@*CONCLUSIONS@#The use of deep learning model of Inception v4 and transfer learning algorithm to construct a sex estimation model for pelvic MIPR images of Chinese Han population has high accuracy and well generalizability in human remains, which can effectively estimate the sex in adults.

Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a child with Pitt-Hopkins syndrome.@*METHODS@#A child who had presented at the Medical Genetics Center of Gansu Provincial Maternal and Child Health Care Hospital on February 24, 2021 and his parents were selected as the study subjects. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. Karyotype analysis was also carried out for the child, and her mother was subjected to ultra-deep sequencing and prenatal diagnosis upon her subsequent pregnancy.@*RESULTS@#The clinical manifestations of the proband included facial dysmorphism, Simian crease, and mental retardation. Genetic testing revealed that he has carried a heterozygous c.1762C>T (p.Arg588Cys) variant of the TCF4 gene, for which both parents had a wild-type. The variant was unreported previously and was rated as likely pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (ACMG). Ultra-deep sequencing indicated that the variant has a proportion of 2.63% in the mother, suggesting the presence of low percentage mosaicism. Prenatal diagnosis of amniotic fluid sample suggested that the fetus did not carry the same variant.@*CONCLUSION@#The heterozygous c.1762C>T variant of the TCF4 gene probably underlay the disease in this child and has derived from the low percentage mosaicism in his mother.

Prenatal diagnosis for a fetus with Walker-Warburg syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).@*METHODS@#A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).@*CONCLUSION@#Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.

Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical data and genetic characteristics of a child with fibrocartilage hyperplasia type 1 (FBCG1).@*METHODS@#A child who was admitted to Gansu Provincial Maternity and Child Health Care Hospital on January 21, 2021 due to severe pneumonia and suspected congenital genetic metabolic disorder was selected as the study subject. Clinical data of the child was collected, and genomic DNA was extracted from peripheral blood samples from the child and her parents. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing.@*RESULTS@#The patient, a 1-month-old girl, had presented with facial dysmorphism, abnormal skeletal development, and clubbing of upper and lower limbs. WES revealed that she has harbored compound heterozygous variants c.3358G>A/c.2295+1G>A of the COL11A1 gene, which has been associated with fibrochondrogenesis. Sanger sequencing has verified that the variants have been respectively inherited from her father and mother, both of whom were phenotypically normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3358G>A variant was graded as likely pathogenic (PM1+PM2_Supporting+PM3+PP3), and so was the c.2295+1G>A variant (PVS1＋PM2_Supporting).@*CONCLUSION@#The compound heterozygous variants c.3358G>A/c.2295+1G>A probably underlay the disease in this child. Above finding has facilitated definite diagnosis, genetic counseling for her family.

Forensic Examination of Six Homicide Injection Cases / 法医学杂志

OBJECTIVES@#To retrospectively analyze homicide cases of death after injection and provide reference for forensic identification.@*METHODS@#Six homicide cases of death after injection which were investigated by the Criminal Investigation Team of Shanghai Public Security Bureau were collected and analyzed, including case situation, scene investigation, autopsy and other materials.@*RESULTS@#The 6 cases were premeditated crimes, 5 cases took place in private spaces, and 5 cases involved the victims approached by suspects' decoy. There were no obvious abnormalities at the scene of the 6 cases. In 6 cases, the victim's body surface injury was mild or no, lividity color was abnormal, and the needlestick injury showed different manifestations from conventional medical measures.@*CONCLUSIONS@#Death after injection is a highly concealed crime and easy to be ignored. For the suspected injection injury found in autopsy, it is necessary to carefully examine, identify and analyze, be alert to the situation of injecting poison (drug) and do a good job in evidence fixation and material extraction.

Comparison of Three Methods for Skeleton Age Estimation / 法医学杂志

OBJECTIVES@#To find the appropriate method for age estimation for different ages and sexes.@*METHODS@#The costal cartilage, sternum and pubic symphysis of 91 unknowns from 2000 to 2020 from the Forensic Department of the Criminal Investigation Team of Shanghai Public Security Bureau were collected. Costal cartilage, sternal and pubic symphysis inferences were used to estimate the age, and the consistency between the estimated results and the actual physiological age of the unknowns was tested. The accuracy of age estimation of different samples was compared, and the relationship between accuracy and age and sex was analyzed.@*RESULTS@#Using the costal cartilage method, the inference errors of males, females and the whole population under 40 years old were (0.608±2.298) years, (0.429±1.867) years and (0.493±2.040) years, while those over 40 years old were (-1.707±3.770) years, (-3.286±4.078) years and (-2.625±4.029) years. The differences between different age groups in these three populations were statistically significant (P<0.05). Using the sternum method, the inference errors of males and females under the age of 40 were (0.921±3.019) years and (0.452±1.451) years, while those over the age of 40 were (-5.903±5.088) years and (-1.429±2.227) years. The differences between different age groups in males and females were statistically significant (P<0.05). Using the pubic symphysis method, the inference errors of males and females under 40 years old were (-0.204±1.876) years and (0.238±2.477) years, while those over 40 years old were (1.500±2.156) years and (-2.643±4.270) years. The differences between different age groups in males and females were statistically significant (P<0.05). Using the sternum method and pubic symphysis method for age estimation of over 40 years old, the difference between different sexes was statistically significant (P<0.05).@*CONCLUSIONS@#All three methods of age estimation are stable and effective and more accurate for people under 40 years old. For age estimation of unknowns over 40 years old, the pubic symphysis method is preferred in males and the sternum method is preferred in females.

Clinical value of stylized laparoscopic hemicolectomy for left colon cancer / 中华消化外科杂志

Objective:To investigate the clinical value of stylized laparoscopic hemicolec-tomy for left colon cancer.Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 174 patients who underwent laparoscopic hemicolectomy for left colon cancer in the First Affiliated Hospital of Nanjing Medical University from January 2016 to December 2020 were collected. There were 106 males and 68 females, aged 59(range, 17?86)years. All patients underwent stylized laparoscopic hemicolectomy for left colon cancer. Observation indicators: (1) surgical situations; (2) postoperative complications; (3) postoperative histopathological examinations; (4) follow-up. Follow-up was conducted using outpatient examination or telephone interview to detect tumor recurrence and metastasis and survival of patients up to October 2021. Follow-up was performed once every 3 months within postoperative 2 years, once every 6 months within postoperative 2 to 5 years and once a year after postoperative 5 years, with the end point as tumor recurrence and metastasis or death of patients. Measurement data with normal distribution were represented as Mean±SD and measurement data with skewed distribution were represented as M(range) or M( Q1, Q3). Count data were described as absolute numbers or percentages. Kaplan-Meier method was used to draw survival curve and calculate survival rate. Results:(1) Surgical situations. All the 174 patients underwent stylized laparoscopic hemicolectomy for left colon cancer successfully, including 6 cases receiving preoperative enteral stent placement due to bowel obstruc-tion, 3 cases receiving defunctioning ileostomy and 1 case receiving Hartmann procedure. The operation time, volume of intraoperative blood loss, time to postoperative initial defecation and duration of postoperative hospital stay of the 174 patients were 97(80,106)minutes, 45(25,60)mL, 5(3,6)days and 7(6,8)days, respectively. (2) Postoperative complications. Twelve of the 174 patients had complications, including 4 cases with incision infection or fat liquefaction, 3 cases with anastomotic leakage, 2 cases with incomplete bowel obstruction, 1 case with abdominal hemo-rrhage, 1 case with chylous leakage and 1 case with pulmonary infection. The 2 cases with anastomotic leakage underwent ileostomy. The patient with abdominal hemorrhage underwent laparotomy to stop bleeding. One elder patient died of postoperative pulmonary infection. The other patients with complications recovered with conservative treatment. (3) Postoperative histopatho-logical examinations. Of the 174 patients, there were 27 cases in stage Ⅰ of TNM staging, 68 cases in stage Ⅱ, 77 cases in stage Ⅲ and 2 cases in stage Ⅳ. There were 9 cases with well differentiated tumor, 107 cases with moderately differentiated tumor and 58 cases with poorly differentiated tumor. The number of lymph node detected, the number of positive lymph node and tumor diameter of the 174 patients were 19(15,23), 0(0,2) and 4(3,5)cm, respectively. Of the 174 patients, there were 79 cases with lymph node metastases, 21 cases with cancerous nodules, 35 cases with vascular invasion and 29 cases with nerve invasion. (4) Follow-up. Of the 174 patients, 157 cases were followed up for 27(range, 1?70)months. Of the 157 patients who conducted follow-up, 20 cases had tumor metastasis, including 9 cases with multiple metastasis, 5 cases with liver metastasis, 4 cases with lung metastasis, 1 case with bone metastasis and 1 case with spleen metastasis. The 5-year overall survival rate and tumor free survival rate of the 157 patients were 90.9% and 80.8%, respectively.Conclusion:The stylized laparoscopic hemicolectomy for left colon cancer is safe and feasible.

Surgery for iatrogenic perforation of colorectum following colonoscopy / 国际外科学杂志

Objective:To investigate the strategy and feasibility of surgery for iatrogenic perforation of colorectum following colonoscopic examination or treatment.Methods:A retrospectively descriptive study was conducted. Twenty-one patients aged from 35 to 84 years old from the Department of General Surgery of the First Affiliated Hospital of Nanjing Medical University between Jan. 2015 and Dec. 2020 were enrolled in this study. There were 15 male and 6 female patients with a median age of 64 years.Observation indicators included patient demographics, including sex, age, comorbidity, abdominal surgical history; findings and outcomes of colonoscopy, including purpose of colonoscopy, time to the diagnosis of perforation; findings and outcomes of surgical treatment, including perforation site, perforation size, surgical methods, postoperative complications.Results:Eight patients were found with diagnostic colonoscopic perforation, 13 patients with therapeutic perforation (2 patients with endoscopic mucosal resection, 7 patients with endoscopic submucosal dissection and 4 patients with stent placement). Thirteen perforation occurred during the procedure of colonoscopy. Eleven patients with perforation occurred in the sigmoid colon, 3 in the ascending colon, 3 in the rectum, 2 in the descending colon, 1 in the cecum and 1 in the hepatic flexure. The perforation size ranged from 0.3 cm to 10.0 cm with a high likelihood of a bigger perforation occurred in diagnostic colonoscopy than therapeutic colonoscopy. Seven patients received primary surgical repair with 3 patients receiving diversion. Four patients received direct colostomy in the perforation site. Six patients received segmental colectomy or radical resection with primary anastomosis, among them 2 patients received defunctioning ileostomy. Four patients received resection with the Hartmann procedure. Nine patients were performed with laparoscopic surgery with 3 patients converted to open surgery. Six patients developed postoperative complications, including 1 bowel leakage, 2 wound infection, 1 wound infection accompanied with abdominal infection, 1 kidney infection. One patient with hepatic flexure perforation after stent placement died from septic shock after the Hartmann procedure.Conclusion:With proper indication, the performance of optimal surgical treatment will save lives of patients with colonoscopic perforation.

Effect of Mitochondrial Function on Cell Senescence and Anti-ging Effect of Traditional Chinese Medicine and Moxibustion： A Review / 中国实验方剂学杂志

Since ancient times， delaying aging， health， and longevity have been the universal wish of people. Nowadays， China gives top strategic priority to the development of people's health. How to maintain a healthy life and slow down the aging of the human body is a problem worthy of our attention. Human aging can be shown as cell senescence from the microscopic level. Cell senescence is a process in which cell proliferation and differentiation and physiological function gradually decline. It is a normal physiological function responsible for the removal of damaged cells and is the regeneration and recovery of tissues after injury or acute stress. Aging is an irresistible natural law. Although it is inevitable， it is possible to delay aging. Energy metabolism is an important basis of cell function， in which cells use nutrients such as sugar and fat to produce adenosine triphosphate （ATP）. Mitochondria serve as the cell's power stations， where sugars， fats， and amino acids are eventually oxidized to release energy. Mitochondrial function decreases with age. Changes in mitochondrial dynamics， reactive oxygen species content， autophagy， and metabolites can cause dysfunction of electron transport chain and oxidative phosphorylation， and induce mitochondrial dysfunction. Mitochondrial dysfunction is one of the internal causes of many aging-related diseases， such as neurodegenerative diseases， Alzheimer′s disease， and atherosclerosis. Chinese medicine with few side effects and rich ingredients and health care moxibustion with safety and efficacy have been widely applied to the field of anti-aging. This study reviewed the effect of mitochondrial function on cell senescence， and retrieved， analyzed， and summarized research papers on the mechanism of traditional Chinese medicine （TCM） and moxibustion in delaying aging by affecting mitochondrial function， which is expected to provide new insights for further research in this field.

Genetic analysis of 21 cases of methylmalonic acidemia / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.@*METHODS@#Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.@*RESULTS@#In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.@*CONCLUSION@#Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.