Zinc Oxide-Reduced Graphene Oxide-based Photoelectrochemical Sensor Combined with Molecularly Imprinting Technique for Sensitive Detection of Oxytetracycline / 分析化学

In this work,zinc oxide-reduced graphene oxide(ZnO-rGO)nanocomposites were fabricated using hydrothermal method,and the chemical and physical properties of the synthesized ZnO-rGO were characterized by several techniques,including X-ray diffraction and Fourier transform infrared(FT-IR)spectroscopy.A molecularly imprinted photoelectrochemical sensor based on ZnO-rGO was designed for sensitive detection of oxytetracycline(OTC).Polypyrrole(PPy)film was electropolymerized onto ZnO-rGO nanocomposites and OTC molecules were imprinted on the polymer film through hydrogen bonding.After OTC molecules were eluted,the recognition sites for OTC were left on the polymer membrane,enabling the specific detection of OTC.Linear detection of OTC was achieved in the range of 0.1-200 nmol/L with the detection limit of 0.05 nmol/L(S/N=3).The sensor was successfully applied to determination of OTC in milk and honey samples,with recoveries ranging from 95%to 107%.The developed method would provide significant reference value for effective and rapid detection of other antibiotics in the foods.

Analysis of the trend of mortality among residents of Fuling District， Chongqing from 2017 to 2022 / 上海预防医学

ObjectiveTo understand the mortality trends among residents of Fuling District， Chongqing， before and after theCOVID-19 outbreak， and to provide references for the government to formulate disease prevention and control policies and measures. MethodsData on mortality and population in Fuling District from 2017 to 2022 were collected to analyze population mortality and standardized mortality rates， and to compare the changes in the causes of death by year and before and after the pandemic. ResultsFrom 2017 to 2022， the crude mortality rate in Fuling District showed an upward trend （APC=3.04%， P<0.05）， while the standardized mortality rate showed a downward trend （APC=-6.47%， P<0.01）. The mortality rate of males was higher than that of females （P<0.05）， with different age groups having different causes of death composition. The highest proportion of deaths in 0-year-old group was from infectious diseases， maternal and neonatal diseases， and nutritional deficiencies， the highest proportion of deaths in the 1‒24 age group， with the exception of those aged 5‒9， was from injuries， and the main cause of death for residents aged 25 and above was chronic diseases. The mortality rate of mental and behavioral disorders rose from the 13th to the 9th place. According to the epidemic situation of COVID-19， there were no changes in the top five causes of death among the entire population. The motility rate of endocrine， nutritional and metabolic diseases rose from the sixth to the fifth place in male population， and the motility rate of malignant tumor rose from the 3rd to the 2nd place in female population. ConclusionThere are no changes in the top five causes of death among the entire population of Fuling District before and after the COVID-19 outbreak. Chronic diseases remain the main cause of death. It is necessary to control the risk factors for cardiovascular and cerebrovascular diseases such as hypertension， diabetes， and dyslipidemia， and to curb the rising trend of mortality rates from strokes and acute myocardial infarction. For deaths caused by accidental injuries， targeted health education should be conducted for different populations.

Proteomics reveals the protective mechanism of salvianolate injection on early hyperacute myocardial infarction / 药学学报

The hyperacute stage of myocardial infarction refers to a period of time within 30 minutes after the occurrence of myocardial infarction, when the symptoms are not obvious and the diagnosis is difficult, and the related pathophysiological mechanism has received less attention. In this study, proteomics was used to investigate the pathological changes in the early hyperacute phase of myocardial infarction, aiming to provide experimental evidence for pathological mechanism of myocardial infarction hyperacute stage. Meanwhile, the intervention effect and related mechanism of salvianolate injection were discussed based on heat shock protein B6 (HSPB6), aiming to benefit the clinical rational use of salvianolate injection. The protein expression changes before and after myocardial infarction model establishment were detected by label-free proteomics via mass spectrometry and analyzed by bioinformatics method. Then the binding effect of salvianolate injection on the commonly differential protein HSPB6 was evaluated by molecular docking technology, which was finally verified by animal experiments. All animal experimental protocols were approved by the Ethics Committee of Xiyuan Hosptial (2022XLC041). The results of this study showed that a total of 2 166 proteins were quantified by lable-free proteomics, of which 194 shared differential proteins were involved in myocardial injury and body regulation in the hyperacute phase of myocardial infarction, mainly involving molecular functions such as protein homodimerization activity, oxygen binding and transport, and serine endopeptidase inhibitor activity. Among them, HSPB6 protein is involved in the regulation of myocardial function. Molecular docking results indicated that magnesium salvianolate acetate, which is the main component of salvianolate injection, had the lowest binding energy with HSPB6 protein: -14.53 kcal·mol-1. Animal experiments showed that compared with the Sham group, the model group had significantly lower ejection fraction (EF) and fractional shortening (FS) (P < 0.001), cardiac blood perfusion decreased significantly (P < 0.001). There were obvious pathological changes such as myocardial fiber disorder, cardiomyocyte edema and interstitial small blood vessel congestion; the injury of cardiac function of rats in the administration group was attenuated, and the FS of rats in the low-dose group was significantly improved (P < 0.05), the pathological injury of myocardial tissue was markedly mitigated, and the expression of HSPB6 protein was up-regulated to varying degrees (P < 0.01, P < 0.001). In conclusion, salvianolate injection could be able to improve the cardiac function and pathological morphology of rats in the early hyperacute stage of myocardial infarction, and its mechanism may be related to the promotion of expression of HSPB6.

Comparison of prediction ability of two extended Cox models in nonlinear survival data analysis / 南方医科大学学报

OBJECTIVE@#To compare the predictive ability of two extended Cox models in nonlinear survival data analysis.@*METHODS@#Through Monte Carlo simulation and empirical study and with the conventional Cox Proportional Hazards model and Random Survival Forests as the reference models, we compared restricted cubic spline Cox model (Cox_RCS) and DeepSurv neural network Cox model (Cox_DNN) for their prediction ability in nonlinear survival data analysis. Concordance index was used to evaluate the differentiation of the prediction results (a larger concordance index indicates a better prediction ability of the model). Integrated Brier Score was used to evaluate the calibration degree of the prediction (a smaller index indicates a better prediction ability).@*RESULTS@#For data that met requirement of the proportion risk, the Cox_RCS model had the best prediction ability regardless of the sample size or deletion rate. For data that failed to meet the proportion risk, the prediction ability of Cox_DNN was optimal for a large sample size (≥500) with a low deletion (< 40%); the prediction ability of Cox_RCS was superior to those of other models in all other scenarios. For example data, the Cox_RCS model showed the best performance.@*CONCLUSION@#In analysis of nonlinear low maintenance data, Cox_RCS and Cox_DNN have their respective advantages and disadvantages in prediction. The conventional survival analysis methods are not inferior to machine learning or deep learning methods under certain conditions.

Diffuse midline glioma with H3K27 alteration in adults: a clinicopathological analysis / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics, pathological diagnosis and prognosis of diffuse midline glioma (DMG) with H3K27 alteration in adults. Methods: Twenty cases of H3K27-altered adult DMG diagnosed in the First Affiliated Hospital of Nanjing Medical University were enrolled from 2017 to 2022. All cases were evaluated by clinical and imaging presentations, HE, immunohistochemical staining and molecular genetics; and the relevant literature was reviewed. Results: The ratio of male to female was 1∶1, and the median age was 53 years (range from 25 to 74 years); the tumors were located in the brainstem (3/20, 15%) and non-brainstem (17/20, 85%; three in thoracolumbar spinal cord and one in pineal region). The clinical manifestations were non-specific, mostly dizziness, headache, blurred vision, memory loss, low back pain, limb sensation and/or movement disorders, etc. Microscopically, the tumors showed infiltrative growth, with WHO grade 2 (3 cases), grade 3 (12 cases), and grade 4 (5 cases). The tumors showed astrocytoma-like and oligdendroglioma-like, pilocytic astrocytoma-like and epithelioid-like patterns. Immunohistochemically, the tumor cells were positive for GFAP, Olig2 and H3K27M, and H3K27me3 expression was variably lost. ATRX expression was lost in four cases, p53 was strongly positive in 11 cases. Ki-67 index was about 5%-70%. Molecular genetics showed p. k27m mutation in exon 1 of H3F3A gene in 20 cases; BRAF mutation in two cases: V600E and L597Q mutation in one case each. Follow up intervals ranged from 1 to 58 months, and the survival time for brainstem (6.0 months) and non-brainstem (30.4 months) tumors was significantly different (P<0.05). Conclusions: DMG with H3K27 alteration is uncommonly found in adults, mostly occurs in non-brainstem, and can present in adults of all ages. Owing to the wide histomorphologic features, mainly astrocytic differentiation, routine detection of H3K27me3 in midline glioma is recommended. Molecular testing should be performed on any suspected cases to avoid missed diagnosis. Concomitant BRAF L597Q mutation and PPM1D mutation are novel findings. The overall prognosis of this tumor is poor, with tumors located in the brainstem showing worse outcome.

CIC-rearranged sarcoma: a clinicopathological analysis of four cases / 中华病理学杂志

Objective: To investigate the clinicopathological features and differential diagnosis of CIC-rearranged sarcoma (CRS). Methods: Five CRSs of 4 patients (2 biopsies of pelvic cavity and lung metastasis from case 4) diagnosed in the First Affiliated Hospital of Nanjing Medical University were enrolled from 2019 to 2021. All cases were evaluated by clinical presentation, H&E, immunohistochemical staining and molecular analysis and the related literature was reviewed. Results: There were one male and three females, the age at diagnosis ranged from 18 to 58 (mean 42.5) years. Three cases were from the deep soft tissues of the trunk and one case from the skin of foot. Grossly, the tumor size ranged from 1 to 16 cm. Microscopically, the tumor was arranged in nodules or solid sheets. The tumor cells were typically round or ovoid, with occasional spindled or epithelioid morphology. The nuclei were round to ovoid with vesicular chromatin and prominent nucleoli. Mitotic figures were brisk (>10/10 HPF). Rhabdoid cells were seen in four of five cases. Myxoid change and hemorrhage were observed in all samples and two cases showed geographic necrosis. Immunohistochemically, CD99 was variably positive in all samples, while WT1 and TLE-1 were positive in four of five samples. Molecular analysis showed CIC-rearrangements in all cases. Two patients succumbed within 3 months. One had mediastinal metastasis 9 months after surgery. One underwent adjuvant chemotherapy and remained tumor-free 10 months after diagnosis. Conclusions: CIC-rearranged sarcoma is uncommon and shows aggressive clinical course with dismal prognosis. The morphological and immunohistochemical characteristics can largely overlap with a variety of sarcomas; hence, knowledge of this entity is vital to avoid potential diagnostic pitfalls. Definitive diagnosis requires molecular confirmation of CIC-gene rearrangement.

Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses / 中华儿科杂志

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.

Prenatal diagnosis of abnormal morphology of Sylvian fissure and malformations of cortical development / 中华围产医学杂志

Objective:To investigate the significance of abnormal morphology of Sylvian fissure detected by fetal neurosonogram (NSG) in prenatal diagnosis of malformations of cortical development (MCD).Methods:This retrospective study involved fetuses with abnormal morphology of Sylvian fissure on prenatal NSG in Peking University First Hospital between January 2016 and December 2021. Clinical data including the basic information as well as the results of NSG, genetic examinations and MRI were collected. The diagnosis of MCD could be made when both brain morphological abnormalities and pathogenic/likely pathogenic genetic abnormalities were presented. The association between the abnormal morphology of Sylvian fissure and MCD was analyzed by descriptive analysis.Results:Thirteen participants who had complete genetic information were included in this study [defined as those who were found with pathogenic/likely pathogenic copy number variation (CNV) or those who further underwent whole-exome sequencing (WES) as no pathogenic/likely pathogenic CNV were detected]. Twelve fetuses (12/13) were eventually diagnosed with MCD. Pathogenic CNV were found in seven fetuses and pathogenic point mutations in five, involving six pathogenic genes and four genetic syndromes. Symmetric morphologic abnormality of Sylvian fissure was detected in 10 cases by prenatal NSG with shallow and broad shape in six and abnormal angle of Sylvian fissure in four. The other two fetuses showed asymmetric abnormal morphology of Sylvian fissure that was shallow and broad shape on one side and abnormal angle on the other. The imaging features of MCD present by prenatal NSG and were consistent with those of MRI.Conclusions:Abnormal morphology of Sylvian fissure detected by prenatal NSG is important in MCD diagnosis. Genetic examination are recommended to the fetuses with abnormal morphology of Sylvian fissure. For those requiring for genetic analysis, chromosomal microarray analysis together with WES might be an optimal choice.

Advances in genetics and prevention of monogenic global developmental delay and intellectual disability / 中华围产医学杂志

Global developmental delay/intellectual disability (GDD/ID) is an enormous group of neurodevelopmental disorders with diverse clinical and genetic heterogeneity. The estimated prevalence of GDD/ID was 1%-3%, affecting about 150 million people. GDD/ID is one of the leading causes of disability in children worldwide. The causes of GDD/ID are complex, comprising genetic and environmental factors. It is often co-morbid with a variety of psychiatric behavioral disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder. Owing to the improvement of genetic technology, monogenic GDD/ID has been one of the hot-spot research in genomic era, and the relevant preventive measures deserve extensive attention. In this review, we summarized the advances in genetics and prevention of monogenic GDD/ID.

Ewing's sarcoma of central nervous system: a clinicopathological analysis of six cases / 中华病理学杂志

Objective: To investigate the clinicopathological characteristics, pathological diagnosis of Ewing's sarcoma of the central nervous system. Methods: Six cases of Ewing's sarcoma of the central nervous system diagnosed at the First Affiliated Hospital of Nanjing Medical University, Nanjing, China from 2015 to 2022 were collected. The clinical manifestations, histological morphology, immunophenotype and molecular genetics of these cases were analyzed. The related literature was reviewed. Results: There were four males and two females, with a male to female ratio of 2∶1. The onset age was 17-40 years, with a median age of 23 years. All 6 tumors were located in the spinal cord (2 cases of cervical vertebra, 1 case of thoracic vertebra, 2 cases of lumbar vertebra, and 1 case of sacral vertebra). The patients' clinical manifestations were mostly lumbago, weakness and numbness of lower limbs/limbs. In 1 case, the tumor recurred and metastasized to the suprasellar region and the third ventricle. Microscopically, the tumor showed diffuse infiltrative growth. In some cases, the tumor was closely related to the spinal meninges. The tumor cells were arranged in sheet, lobular, thin-rope, and nest-like patterns. Homer-Wright rosette was visible. The tumor cells were small to medium in size, and most of them had scant cytoplasm. A few cells had clear cytoplasm. Some areas were rhabdoid. The tumor cell nuclei showed focal mild pleomorphism. The chromatin was uniform and delicate while the nucleoli were not obvious. Mitosis was commonly seen. The tumor was separated by fibrous connective tissue and may be accompanied by mucinous degeneration. Immunohistochemistry showed that all tumors were positive for CD99, NKX2.2, Fli1, ERG. ATRX, H3K27me3, INI1 and BRG1 were all retained. Immunohistochemical stains for EMA, GFAP and Olig2 were negative. The Ki-67 proliferation index was 30%-70%. EWSR1 break-apart FISH test was positive. Conclusions: Ewing's sarcoma is rare in the central nervous system and needs to be distinguished from a variety of neoplasms with primitive undifferentiated small cell morphology. Immunohistochemistry and molecular genetics may be required for a proper diagnosis.

Evaluation of the clinical manifestations of COVID-19 in patients with aplastic anemia undergoing immunosuppressive therapy: a prospective cohort study (NICHE) / 中华血液学杂志

Objective: To investigate the clinical features of coronavirus disease 2019 (COVID-19) in patients with aplastic anemia (AA) undergoing immunosuppressive therapy (IST) . Methods: In this prospective cohort study, we collected the demographic and clinical data of patients with AA and COVID-19 from December 1, 2022, to January 31, 2023. We described the clinical features of COVID-19 among patients with AA and evaluated the effects of IST on the signs and severity of COVID-19. Results: A total of 170 patients with AA and COVID-19 were included. The common early symptoms, including fever, dizziness or headache, muscle or body aches, and sore throat, disappeared within 1-2 weeks. Approximately 25% of the patients had persistent fatigue within 2 weeks. Many patients experienced cough after an initial 1-3 days of infection, which lasted for more than 2 weeks. There were no differences in the duration of total fever episodes and maximum body temperature when patients were stratified according to whether or not they underwent IST, by IST duration, or by use of anti-lymphocyte globulin (ALG) (P>0.05). No differences were observed in the occurrence of symptoms in either the early or recovery stages when patients with AA were stratified according to whether or not they underwent IST, or by IST duration (P>0.05). However, patients who received ALG had fewer fever episodes within 1 week after infection (P=0.035) and more sore throat episodes within 2 weeks after infection (P=0.015). There were no other significant differences in clinical symptoms between patients who did and patients who did not receive ALG (P>0.05) . Conclusion: The majority of patients with AA and COVID-19 recovered within 2 weeks of noticing symptoms when treated with IST.

The antitumor mechanism of ginsenoside Rg3 activating MAPK/ERK pathway to promote T cell function / 中国药理学通报

Aim To elucidate the mechanism by which Rg3 regulates the function of CD8

Evolution of Research Related to Macrophage Polarization in Atherosclerosis:A Visualization Analysis / 中国医学科学院学报

Objective To explore the research status,hotspots,and development tendency of macrophage polarization (MP) in atherosclerosis (AS) by systematically reviewing and visually analyzing the articles published recently in this field,so as to provide new ideas for the basic research and translational research on MP in the prevention and treatment of AS.Methods SCI-Expanded was used as the data source for the retrieval of the articles involving MP in AS from 2012 to 2022.CiteSpace 6.1.R3 was employed to visualize the node information of the publishing country/region,institutions,authors,keywords,and citations.Results A total of 381 papers were included.The number of publications in the world showed an increasing trend year by year.China and the United States were leading this field in the number and centrality of publications,and Shandong University in China contributed the largest number of publications.The analysis of the key words and citations showed that the hotspots and frontiers in this field mainly included the pathogenesis of AS,MP markers,macrophage plasticity regulation,and potential therapeutic targets for AS.Conclusions The research on MP in AS was booming during 2012-2022.The differential gene expression and the molecular mechanism of targeted therapy of MP in AS are the research trends in this field,which will provide new measures for the prevention and treatment of AS.

Analysis on the risk of refracture after osteoporotic vertebral fracture with changes in blood calcium and bone metabolism / 中华内分泌外科杂志

Objective:To study the risk of refracture after osteoporotic vertebral fracture with changes in blood calcium and bone metabolism.Methods:260 patients with osteoporotic vertebral fracture treated in our hospital from Feb. 2018 to Feb. 2020 were selected for study. All patients were treated with kyphoplasty. The clinical curative effect, blood calcium, PINP, and β-CTX level changes were observed, postoperative recurrence was followed up. Clinical data of fracture patients were collected, risk factors of osteoporotic vertebral fractures in patients with postoperative recurrence of fracture were analyzed, receiver-operating characteristic curve was drawn to analyze the predictive value of blood calcium, PINP, andβ-CTX in postoperative recurrence of osteoporotic vertebral fracture.Results:The total clinical response rate was 95.77% (249/260) after treatment. After treatment, serum calcium, PINP, and β-CTX decreased with time, and the difference was significant ( P<0.05) . All patients were followed up for 6 months. There were 81 cases (31.15%) suffering postoperative fracture and 179 cases (68.85%) without fracture. According to univariate analysis, there were no statistically significant differences in age, sex, BMI, history of trauma, underlying disease, site of surgical vertebral body, segment of surgical vertebral body, correction angle of sagittal kyphosis, or amount of bone cement injection between the two groups ( P>0.05) . Long-term history of glucocorticoid use, preoperative fractured vertebra number, surgical vertebra number, blood calcium, PINP, β-CTX, fracture compression rate, vertebra height recovery rate, reinforced vertebra number, and bone cement leakage were correlated with postoperative recurrence of fracture in patients with osteoporotic vertebral fracture ( P<0.05) . Multivariate Logistic analysis showed that long-term history of glucocorticoid use, preoperative number of fractured vertebrae, surgical vertebra number, fracture compression rate, vertebral height recovery rate, enhanced vertebral body number, bone cement leakage, blood calcium, PINP, and β-CTX were all independent risk factors for postoperative recurrence of osteoporotic vertebral fracture ( P<0.05) . ROC curve results showed that AUC, 95%CI and truncation value were 0.820, 0.770-0.871 and 2.12mmol/L vs 0.915, 0.873-0.957 and 45.51 ng/mL vs 0.973, 0.957-0.988, and 463.29 for serum calcium, PINP, and β-CTX respectively in predicting the recurrence of osteoporotic vertebral fracture. Conclusion:Kyphoplasty has a significant effect on osteoporotic vertebral fracture, and it can effectively improve the serum calcium, PINP, and β-CTX, which have a certain monitoring value for postoperative recurrence of fracture.

Epidemiological characteristics of influenza in Fuling district of Chongqing of China in 2010-2019 / 中国基层医药

Objective:To investigate the characteristics and change law of influenza in Fuling District of Chongqing in 2010-2019, and to provide a scientific basis for the pre-control of influenza.Methods:We performed an epidemiological analysis on the data of influenza-like illness reported by Fuling District influenza surveillance sentinel hospitals in Chongqing in 2010-2019.Results:In 2010-2019, a total of 42 169 cases of influenza-like illness were reported in Fuling District, with an average treatment rate of 1.22%. The activity of influenza-like illness peaked in winter, spring, and summer. There were 22 788 cases in the group of cases aged < 5 years, accounting for 50.4%. In 2010-2019, a total of 8049 pharyngeal swabs were collected to screen for influenza-like illness, with a positive rate of 14.52%. Influenza virus A H3 positive rate was highest, accounting for 37.98%, followed by influenza virus B BV positive rate, accounting for 30.80%. The highest influenza virus-positive rate was reported in January (26.34%), followed by November (24.85%).Conclusion:Influenza in the Fuling district of Chongqing mainly occurs in winter, spring, and summer. Influenza virus A H3 is the dominant strain. Children and school students are prone to develop influenza-like illnesses. We should continue to strengthen the monitoring of influenza strains, greatly promote vaccination, and strengthen the monitoring and prevention of influenza-like illness among susceptible populations.

Clinicopathological features of ectopic meningothelial hamartoma / 中华病理学杂志

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of ectopic meningothelial hamartoma (EMH). Methods: Three cases of EMH diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to December 2020 were enrolled. All cases were evaluated by clinical and imaging features, HE and immunohistochemical staining, and the relevant literature was reviewed. Results: There were one male and two female patients, aged 2, 67 and 19 years, respectively. Clinically, they presented as skin masses in the head and face region (two cases) and sacro-coccygeal region (one case). Grossly, the lesions ranged in size from 1.6 cm to 8.9 cm. Microscopically, the lesions were ill-defined, and located in the dermis and subcutis, and showed pseudovascular channels lined by monolayer of cuboidal to flattened epithelium with mild atypia, with variable cystic cavity formation. There was prominent interstitial fibrosis. Concentric, lamellated, onion skin-like arrangement with short spindle or ovoid cells and psammoma bodies were noted. Immunohistochemically, these cells were strongly positive for SSTR2, EMA, vimentin and progesterone receptor. Ki-67 positive index was low, approximately 1%. Conclusions: EMH is uncommon. Definitive diagnosis relies on histopathologic examination. The importance in recognizing the lesions is to differentiate from other more aggressive tumors.

How to write a high-quality case report on the prenatal diagnosis of monogenic diseases / 中华围产医学杂志

With the development of gene detection technology, more and more rare diseases can be diagnosed prenatally, and a growing number of related case reports have been submitted. This article aims to provide guidance for clinicians who are considering writing a case report on the prenatal diagnosis of monogenic diseases from the following aspects: the option of genetic testing methods for prenatal diagnosis, essential components of the report, the importance of phenotype, and discussion of the related case.

Black carbon analytical methods for environmental samples and associated perspectives of biomonitoring / 环境与职业医学

Black carbon (BC) is the most strongly light-absorbing component of particulate matter and is largely emitted from the incomplete combustion of fossil and biomass fuels. It has a graphite structure with less carbonized, irregular, microcrystalline, and heterogeneous components, which is determined by pyrolysis conditions. BC can be absorbed by human body via inhalation or ingestion route and then be transported to various organs through the blood circulation system in human body. When crossing different biological barriers (such as blood-brain barrier, placenta barrier, and blood-testis barrier), BC may further act on these targets and induce various toxicities. This review first distinguished between BC and carbon black, and then introduced analytical methods of BC in various environmental samples: microscopic observation, chemothermal oxidation methods, other chemical oxidation methods, and molecular marker analysis. We summarized the principles, technical characteristics, and application to environmental samples of these methods, and discussed the ideas and perspectives of determination of BC in biological samples for human biomonitoring.

Parental origin verification through chromosomal microarray analysis to determine the clinical significance of copy number variations / 中华围产医学杂志

Objective:To explore the role of parental origin verification in chromosomal microarray analysis (CMA) on the determination of the clinical significance of copy number variations (CNVs).Methods:This retrospective study collected clinical information from 73 core families who underwent prenatal diagnosis at Peking University First Hospital from November 2017 to December 2019. Indications for prenatal diagnosis included ultrasound abnormality in 54 cases (including 12 with thickened nuchal translucency (≥2.5 mm), four with fetal growth restriction, seven with abnormal pregnancy history, and 31 with isolated ultrasound abnormality), NIPT indicated high-risk in four cases, advanced age in nine cases, abnormal pregnancy history alone in three cases, intrauterine death in two cases and one with maternal mental retardation. Genomic DNA of amniotic fluid sample, chorionic villi, cord blood, fetal tissues, and fetal heart blood were extracted using genomic DNA extraction kit. The CNVs of prenatal samples in 73 subjects were analyzed using array-based comparative genomic hybridization (array-CGH) analysis and single nucleotide polymorphism array (SNP-array). Peripheral blood DNA of the couples, and relevant families if necessary, were collected and analyzed in the same way. The results of parental origin detection in CMA were summarized.Results:A total of 76 CNVs were detected in these 73 samples, out of which nine were pathogenic and parental origin detection revealed that six were de novo, two were maternally, and one was paternally inherited; six CNVs were likely pathogenic, including three de novo, two maternally inherited and one paternally inherited; 20 CNVs were variants of uncertain significance, including five paternally inherited, three maternally inherited and 12 de novo; 41 CNVs were likely benign, among which 38 were inherited from parents with normal phenotype. Conclusions:Parental origin verification plays an important role in explaining the clinical significance of detected fetal CNVs and thereby can help to analyze its clinical effect and reproductive risk.

Predicting Metabolic Syndrome Using Anthropometric Indices among Chinese Adolescents with Different Nutritional Status: A Multicenter Cross-sectional Study / 生物医学与环境科学（英文）

Objective@#To evaluate the predictive performance of anthropometric indices for metabolic syndrome (MetS) among Chinese adolescents with different nutritional status.@*Methods@#We recruited 9,513 adolescents aged 10-18 years from seven provinces in China during September 2014. Anthropometric indices and blood pressure were measured at recruitment, and blood samples were collected for determining fasting plasma glucose and lipid profile. Receiver operating characteristic (ROC) analyses were used to assess the predictive performance of anthropometric indices, including body mass index (BMI) percentile, waist circumference percentile, waist-height ratio, and waist-hip ratio.@*Results@#Overall, the four anthropometric indices showed good accuracy for predicting MetS with areas under ROC curves (AUCs) ranging from 0.86 to 0.94; similar AUCs ranging from 0.73 to 0.99 were observed for participants with normal weight. The performance of all four indices was poor in overweight and obese participants, with AUCs ranging from 0.66 to 0.77 and from 0.60 to 0.67, respectively. Waist circumference showed relatively better performance in all the subgroup analyses.@*Conclusions@#We suggest using anthropometric indices with the cutoff values presented here for predicting MetS in the overall and normal-weight adolescent population, but not in the overweight and obese adolescent population where more specific screening tests are required.