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    Analysis of clinicopathological factors of spread through air spaces in stage Ⅰ A lung adenocarcinoma
    CHEN Liang, WANG Zhe-xin, YAO Feng
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2020, 40 (07): 957-961.   DOI: 10.3969/j.issn.1674-8115.2020.07.015
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    Objective · To investigate the clinicopathological risk factors of spread through air space (STAS) in stage Ⅰ A lung adenocarcinoma. Methods · The clinical data of patients with stage Ⅰ A lung adenocarcinoma who underwent lung surgery in Shanghai Chest Hospital, Shanghai Jiao Tong University from Jan. 2018 to Oct. 2019 were retrospectively collected. According to whether STAS happened, the patients were divided into STAS group and non-STAS group. Univariate analysis and binary Logistic regression analysis were used to analyze the risk factors of STAS in stage Ⅰ A lung adenocarcinoma between the two groups. Results · A total of 1 365 patients with stage Ⅰ A lung adenocarcinoma were included, including 1 312 patients without STAS and 53 patients with STAS. Univariate analysis showed that there were significant differences in gender and major subtypes of lung adenocarcinoma between the two groups (both P=0.000), but there was no significant difference in T stage between the two groups. Binary Logistic regression analysis showed that male and non-lepidic subtypes were independent risk factors. Conclusion · For the treatment of stage Ⅰ A lung adenocarcinoma, especially those with micropapillary subtype, the clinicians should pay attention to the possibility of STAS.
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    Physiological function of cholesterol sulfate and its role in related diseases
    Yue-ting JIANG, Jia-ying NI, Shen-rui GUO, Han LI, Yu-jia ZHUANG, Feng WANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 371-375.   DOI: 10.3969/j.issn.1674-8115.2021.03.015
    Abstract639)   HTML10)    PDF(pc) (1069KB)(191)       Save

    Cholesterol sulfate (CS), synthesized by sulfotransferase (SULT) 2B1b, is an important steroid sulfate and plays important physiological roles in the human body. It is widely distributed in human body, such as skin, adrenal gland, liver, lung, brain and endometrium. CS participates in the formation of cornified envelopes and the expression of keratinocyte differentiation markers in the epidermis, thereby regulating epidermal desquamation and barrier function. CS inhibits T cell signaling during thymocyte development in the immune system, and CS/ Cholesterol ratio directly affects thymic selection for T cells, thereby participating in the shaping of T cell receptor repertoire. CS regulates brain metabolism and exerts neuroprotective effects by reducing oxidative stress, maintaining mitochondrial membrane stability and increasing energy reserves. In addition, CS also contributes to the development of many diseases by regulating the activity of functional proteins. The deletion and mutation of steroid sulfatase (STS) gene, which catalyzes the desulfurization of CS, directly leads to the occurrence of X-linked ichthyosis. CS is involved in the development of Alzheimer's disease by promoting the aggregation of amyloid β - protein (Aβ). CS regulates gluconeogenesis by inhibiting the activation of hepatocyte nuclear factor 4α (HNF4α). Thus CS is expected to treat type 2 diabetes. CS has abnormal expression in a variety of cancers, and can interact with matrix metalloproteinase-7 (MMP-7) to induce the aggregation and metastasis of cancer cells. The main challenges and research priorities at this stage are to reveal specific molecular mechanisms under different physiological and pathological conditions and to design feasible clinical treatments.

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    Clinical progress of noninvasive follicular thyroid neoplasm with papillary-like nuclear features
    ZENG Su, XU Pei-pei, GUO Ming-gao
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2020, 40 (07): 968-973.   DOI: 10.3969/j.issn.1674-8115.2020.07.017
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    In 2015, the United States and Canadian Academy of Pathology re-evaluated noninvasive encapsulated follicular variant of papillary thyroid carcinomas (NI-EFVPC), and then the new terminology of "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP) was initially introduced to replace NI-EFVPTC. In 2017, the World Health Organization also used NIFTP in the endocrine tumor classification. NIFTP is an encapsulated or clearly delimited noninvasive neoplasm with a follicular growth pattern and nuclear features of papillary thyroid carcinoma. Ultrasonography, cytology examination and genetic test are helpful to identify NIFTP, but the results overlap with invasive encapsulated follicular variant of papillary thyroid carcinoma. This paper mainly reviews the latest research in the clinical features, diagnosis and treatment features and prognosis of NIFTP.
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    Construction of inducible CRISPR/Cas9 system for studying gene function in mouse
    Yan-na ZHAO, Rong QIU, Nan SHEN, Yuan-jia TANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 297-301.   DOI: 10.3969/j.issn.1674-8115.2021.03.002
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    Objective

    ·To construct inducible CRISPR/Cas9 system for studying gene function in mouse immune cells, combining Dox-inducible single guide RNA (sgRNA) expression vector with Cas9 transgenic mice.

    Methods

    ·U6-TetO-sgRNA and EF1α-T2A-Puro-BFP-T2A-TetR fragments were obtained by gene synthesis. The two synthetic fragments were assembled into the retroviral vector backbone by using homologous recombination. sgRNA targeting protein coding region of F4/80 and non-targeting control (NC) were designed. Bone marrow cells were isolated from Cas9 transgenic mice and transfected with retrovirus expressing sgRNA. The experimental conditions were divided into Dox-added group (Dox +) and non Dox-added group (Dox-). The knockout effect was tested by flow cytometry and T7 endonuclease Ⅰ (T7EⅠ) experiments.

    Results

    ·①Dox-inducible sgRNA retroviral vector and Cas9 transgenic mice were successfully constructed. ② The result of flow cytometry showed that F4/80 was only knocked out in the F4/80 Dox+ population, but not in NC Dox-, NC Dox+ and F4/80 Dox- populations. ③ T7EⅠ results showed that the DNA was cut into two bands in the F4/80 Dox+ group, while the DNA band was intact in the F4/80 Dox- group.

    Conclusion

    ·An inducible CRISPR/Cas9 system combining Dox-inducible sgRNA retroviral vector with Cas9 transgenic mice are successfully constructed. With this system, inducible gene knockout in mouse immune cells are successfully achieved.

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    Research progress in epigenetics of obsessive-compulsive disorder
    Liang-jun LIN, Wei-di WANG, Pei WANG, Guan-ning LIN, Zhen WANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 267-272.   DOI: 10.3969/j.issn.1674-8115.2021.02.023
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    Obsessive-compulsive disorder is a high disabling psychiatric disease, with unknown etiology. Many studies have shown that the pathogenesis of obsessive-compulsive disorder is associated with both genes and the environment. Epigenetics has provided an approach to explaining the influence on individual inheritance caused by environmental factors. Nowadays, several types of research have proved that there are differences in DNA methylation between obsessive-compulsive disorder patients and healthy population, and the DNA methylation may be strongly related to treatment response. Additionally, an increased level of microRNA was found in patients with obsessive-compulsive disorder. This review summaries the studies of epigenetics of obsessive-compulsive disorder and concludes the possible changes in epigenetic modifications to further understand the pathophysiology of obsessive-compulsive disorder.

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    Study on interleukin-10 receptor A gene mutations-induced neonatal very early onset inflammatory bowel disease in 2 infants
    Yu-jie XIE, Li-juan XIE, Tian-wen ZHU, Yi-wen WANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 409-412.   DOI: 10.3969/j.issn.1674-8115.2021.03.023
    Abstract548)   HTML4)    PDF(pc) (1951KB)(129)       Save

    In April, 2019, a 36-day-old boy having presented chronic bloody diarrhea for 14 d went to hospital. He developed oral ulcer and perianal abscess,and was taken to surgery. The colonoscopy showed severe ulcerations with granuloma in colon and superficial ulceration in ileum. Genetic analysis of the patient showed compound heterozygous mutations in interleukin-10 recepter A (IL-10RA) gene mutation (c.301C>T,c.537G>A ) and the patient was diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Significant growth failure, chronic diarrhea and perianal abscess was administered when he was 6 months old. The patient 2 was a 9-day-old boy and presented fever and cough.Chronic diarrhea and perianal abscess were noted after admission, which didn't respond to broad-spectrum antibiotics. The colonoscopy showed small ulcers in the colon and histology showed chronic active inflammation with cryptitis and granuloma in the colon, consistent with Crohn's disease. IL-10RA gene (c.106G>A,c.299T>G) deficiency was confirmed by sanger sequencing. Thalidomide were used to control intestinal inflammation and hemopoietic stem cell transplantation was planned to be performed at the age of 4 months.

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    Research progress in liver transplantation for acute -on -chronic liver failure
    Tian-yi ZHANG, Ye-ping YU, Qiang XIA, Hua-lian HANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 257-261.   DOI: 10.3969/j.issn.1674-8115.2021.02.021
    Abstract532)   HTML7)    PDF(pc) (1585KB)(102)       Save

    Acute-on-chronic liver failure (ACLF), caused by various factors, is a rapid decompensation of liver function based on chronic liver disease, which is often accompanied by multiple organ failure and high short-term mortality. So far, there is no effective treatment except liver transplantation, which is the only possible cure. The evaluation before surgery is critical. Due to the large amount of hepatitis B virus (HBV) patients in our country, the evaluation of HBV-related ACLF (HBV-ACLF) is important. Systems like COSSH-ACLF, and CLIF-ACLF could be used for the evaluation. For the timing of surgery, transplantation at the state of ACLF-2 may have more benefit for patients but the conclusion need more research to prove. During the perioperative period, management of organ failure and basic disease is needed. The timing of dissociation of the receptor and trimming of the donor need to be carefully managed during the surgery. After the surgery, beside the usual complication of liver transplantation, events such as infection, organ failure, hepatic encephalopathy should be dealt with. The condition of organ failures before and after liver transplantation is associated with the long-term mortality of patients.This article aims to make review on the assessment before liver transplantation, timing of transplantation, perioperative management, notice during surgery and complication after surgery based on massive clinical experience and plenty of document readings.

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    Overview of the application of artificial intelligence to radiology of the musculoskeletal system
    Xiao-min LI, Yang QU, Shao-ting ZHANG, Liang ZHAO, Chang LIU, Shuai-ning XIE, Ke-rong DAI, Song-tao AI
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 262-266.   DOI: 10.3969/j.issn.1674-8115.2021.02.022
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    Musculoskeletal diseases are diverse. Medical imaging examination is the primary means of disease diagnosis. Reasonable selection of image post-processing methods can provide reliable evaluation basis for disease diagnosis, surgery and prognosis. As a new stage of the development of computer science, artificial intelligence technology can efficiently and accurately preprocess and analyze images, and assist clinicians in diagnosis and treatment. It will bring new opportunities for the development of musculoskeletal imaging. This paper reviews the current situation and challenges of artificial intelligence in the field of imaging diagnosis of musculoskeletal system diseases, in order to provide some reference for the relevant research scholars.

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    Application of proteomics to the study of gynecological diseases
    Yuan-xin HUANG, Dong-mei LAI
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 233-240.   DOI: 10.3969/j.issn.1674-8115.2021.02.017
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    At present, proteomics is one of the core contents of biomedical research. Its research includes the exploration of biological processes such as signal transduction, cell proliferation and differentiation, protein translation and modification, as well as the search for biomarkers and drug targets of diseases. This review summarizes the application of mass spectrometry-based proteomics to the studies of pathogenesis and biomarkers of common gynecological diseases, including polycystic ovary syndrome, premature ovarian insufficiency, ovarian cancer, endometrial cancer and cervical cancer.

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    Research progress of hydroxychloroquine in reproductive immunology
    Xi KOU, Ai-min ZHAO
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 380-385.   DOI: 10.3969/j.issn.1674-8115.2021.03.017
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    Hydroxychloroquine (HCQ) is a kind of synthetic 4-aminoquinoline antimalarial drugs. In recent years, other pharmacological effects of HCQ, such as immunomodulatory, immunosuppression, anti-inflammation, vascular endothelium protection, anti-thrombus, improving metabolic syndrome, and anti-infection, have been gradually known. At present, HCQ is a first-line drug for systemic lupus erythematosus. And in many guidelines for the treatment of autoimmune diseases, HCQ is recommended during whole pregnancy and lactation. This review mainly expounds the mechanism and research progress of HCQ in reproductive immunology, including pregnancy complicated with autoimmune diseases, such as systemic lupus erythematosus, antiphospholipid syndrome and Sjogren's syndrome, as well as unexplained recurrent spontaneous abortion and recurrent implantation failure, and explores the safety and application prospect of HCQ in reproductive immunology.

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    Progress and prospect of in situ bioprinting
    Wen-tao LI, Jin-wu WANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 228-232.   DOI: 10.3969/j.issn.1674-8115.2021.02.016
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    Bioprinting is a new biological manufacturing technology, which opens up new ways for regenerative therapy. The purpose of bioprinting is to create the internal plants in vitro. However, it is difficult to culture and vascularize printed tissue in vitro. In order to overcome this difficulty, in situ printing is presented to print the tissue directly on the injured or defective site, using the natural microenvironment in vivo to make the printed tissue mature. This article reviews the technology, advantages and research status of in situ bioprinting and briefly introduces the future direction of in situ bioprinting.

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    Application of skin autofluorescence detection technique to diagnosis of diseases
    Lin-xiu-mei GUO, Yi-xin ZHANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 251-256.   DOI: 10.3969/j.issn.1674-8115.2021.02.020
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    Skin is the largest organ of human body. Its histological changes may reflect local lesions and serve as the manifestation of systemic diseases. Some molecules in the skin can absorb exciting light of a specific wavelength and emit emission light with a longer wavelength. These molecules are called endogenous fluorophores, and the emission light is called skin autofluorescence (SAF). Different endogenous fluorophore has its specific fluorescence spectrum. When the skin undergoes pathological changes, the content of certain endogenous fluorophores in the skin will change, and even new endogenous fluorophores will be produced. SAF detection technique is a non-invasive, convenient and low-cost optical measurement without toxic side effects, which contains autofluorescence imaging and autofluorescence spectroscopy. It plays a vital and distinctive role in the diagnosis and differential diagnosis of various skin diseases and evaluation of skin pathological changes by analyzing the fluorescence intensity and the excitation or emission spectrum of skin endogenous fluorophores, especially in the early diagnosis of the disease and long-term follow-up after treatment. So far, SAF technology has been used in differential diagnosis of psoriasis, atopic dermatitis, contact dermatitis and other types of inflammatory dermatosis, in monitoring the treatment effect, quantitatively evaluating skin wound healing and scar fibrosis and predicting the type of scar formation, in quantifying and calibrating skin aging and photoaging, in differential diagnosis of multiple types of benign or malignant skin tumors, in guidance of the scope of resection in surgical operations, etc. In addition, SAF produced by advanced glycation end products can also be used as one of the risk grading indicators for various system diseases such as endocrine system, nervous system, cardiovascular system, and urinary system. This article briefly introduces the principle of SAF detection techique, reviews the application of SAF technology to the diagnosis of diseases, supplements the application of other systemic diseases and provides an outlook on the future development of SAF detection technique, in order to provide reference for related medical fields.

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    Research progress in cue-reactivity of addictive substance and its neural mechanism
    Ping-yuan YANG, Hai-feng JIANG, Min ZHAO
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 376-379.   DOI: 10.3969/j.issn.1674-8115.2021.03.016
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    Cue-reactivity of addictive substance is a kind of evoked physiological, behavioural and neural responses when an individual is exposed to cues previously associated with addictive substance taking. Cue-reactivity is one of the main features of addiction. It can evoke craving and plays an important role in relapse. However, the neuromechanism is still unknown. The review summarizes recent research progress in the neuromechanism of cue-reactivity and the condition of clinical therapies based on cue-reactivity, which helps deeply understand the development of addiction and set effective clinical intervention strategy.

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    Advances in estimating fetal weight by maternal and fetal ultrasound variables
    Yi-fei WANG, Yan-ting WU, He-feng HUANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 366-370.   DOI: 10.3969/j.issn.1674-8115.2021.03.014
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    The estimated fetal weight (EFW), using the parameters of pregnant woman and fetuse before birth, plays an important role in helping evaluating fetal development and pregnancy outcome. Various methods have been used to calculate EFW. Predictive accuracy of estimating EFW by using pregnant women's parameters depends on doctors' experience and standardization of measurement. Some appraisal procedures, such as Hadlock formula, which mainly focus on prenatal fetal ultrasound parameters, have been widely used in clinics but still have large errors. Measurements of fetal volume by 3-dimentional ultrasound and magnetic resonance imaging methods show significant improvements, yet they cannot be widely used because of time and economic issues. The prediction coincidence rate of a model with big data based on analysis of neural network, is better than that of traditional ultrasonic detection. It could be a better method of EFW in the future. In summary, accurate evaluation of EFW and its application to obstetric clinic are still major challenges in the future.

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    Construction of prognostic risk score model of colorectal cancer gene signature based on transcriptome dysregulation
    Ru-juan BAO, Hui-fang CHEN, Yu DONG, You-qiong YE, Bing SU
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 285-296.   DOI: 10.3969/j.issn.1674-8115.2021.03.001
    Abstract488)      PDF(pc) (11478KB)(84)       Save
    Objective

    ·To construct colorectal cancer (CRC) prognostic risk score model, analyze the significant differences of cancer hallmark signaling pathway or biological process among CRC patients with different scores, and predict the immunotherapy effect of the model on other cancer patients.

    Methods

    ·Eight independent CRC microarray datasets and two CRC RNA-seq datasets were collected from a public database. Differentially expressed genes (DEGs) in each CRC dataset were screened. Based on DEGs with intersection from different datasets, univariate Cox regression model was used to screen the genes associated with adverse prognosis. LASSO regression and multivariate Cox regression models were used to construct CRC prognostic risk score model. According to the risk scores, the patients were divided into high risk group and low risk group. The area under the curve (AUC) of receiver operator characteristic curve and Kaplan-Meier (KM) survival analysis were used to evaluate the model performance. Multivariate Cox regression model was used to analyze whether risk score was an independent prognostic factor for CRC. Gene set enrichment analysis (GSEA) was used to analyze the differences of cancer hallmark gene sets-related pathways between the CRC patients in the high risk group and low risk group. KM survival analysis and chi-square test were used to predict the immunotherapy effect of other cancer patients, so as to evaluate the application value of CRC prognostic risk score model.

    Results

    ·Univariate Cox regression analysis showed that 16 genes associated with adverse prognosis were obtained from DEGs with intersection from different datasets. Based on this, a CRC prognostic risk score model containing 8 gene signatures was constructed. In the training set (AUCmax=0.788) and internal/external validation sets (AUCmean>0.600), the model displayed moderate accuracy, and the patients in the low risk group of all the above sets had significantly higher survival rate than those in the high risk group. Multivariate Cox regression analysis showed that risk score was an independent prognostic factor for CRC. GSEA results showed that cancer hallmark gene sets-related pathways were significantly enriched in CRC patients of the high risk group. KM survival analysis and chi-square test showed that other cancer patients in the low risk group had higher survival rate and better immunotherapy effect.

    Conclusion

    ·The CRC risk score prognosis model containing 8 gene signatures is successfully constructed, which can provide reference for improving the prognosis of CRC patients and predicting the immunotherapy effect on other cancer patients.

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    Airway management in a critically ill patient with novel coronavirus pneumonia undergoing extracorporeal membrane oxygenation
    Li ZHU, Yun LI, Hui-qin XI, Wei-jun WANG, Fei CHEN, Zhan-ting LU, Ling XIA, Meng-dian ZHAN, Tian-yao ZHANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 406-408.   DOI: 10.3969/j.issn.1674-8115.2021.03.022
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    This article summarizes the nursing experience in a critically ill patient with novel coronavirus pneumonia after extracorporeal membrane oxygenation (ECMO) treatment for lung function improvement. After oral intubation-assisted ventilation, anti-infection, and other symptomatic support treatments, the patient was still unable to breathe without the ventilator. For the sustained carbon dioxide retention and severe gas exchange impairment, he was treated with tracheotomy and ECMO. During the treatment, a series of nursing measures to improve lung function were adopted, such as sputum suction care, atomized inhalation therapy, bronchial irrigation, and lateral ventilation combined with postural drainage. After 7 days of ECMO treatment and nursing, the patient's lung function improved and then he was weaned from the machine.

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    Application of lowering of intrapancreatic plate approach to surgical management of intrapancreatic choledochal cyst
    Wei WANG, Xin-sen XU, Chuan-xin YANG, Wei CHEN, Jian WANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 334-338.   DOI: 10.3969/j.issn.1674-8115.2021.03.008
    Abstract485)   HTML8)    PDF(pc) (3301KB)(51)       Save
    Objective

    ·To investigate the application value of lowering of intrapancreatic plate approach in surgical management of intrapancreatic choledochal cyst.

    Methods

    ·From January 2016 to December 2019, 15 patients with choledochal cyst (Dong type C2) in Renji Hospital, Shanghai Jiao Tong University School of Medicine were retrospectively studied. All patients underwent intrapancreatic choledochal cyst excision through the lowering of intrapancreatic plate approach. Preoperative judgement of junction between choledochal cyst and main pancreatic duct would be verified in operation. The operative success rate, operation time, intraoperative blood transfusion rate, postoperative complications, postoperative pathological results, clinical outcome and follow-up (survival state and long-term complications) were analyzed.

    Results

    ·Preoperative judgement results of junction between choledochal cyst and main pancreatic duct were confirmed in operation. Main pancreatic duct joined with normal bile duct distal to choledochal cyst in 7 (46.7%) patients, and main pancreatic duct joined with choledochal cyst in 8 (53.3%) patients. All the 15 patients underwent successful intrapancreatic choledochal cyst excision through the lowering of intrapancreatic plate approach without remnant intrapancreatic choledochal cysts and main pancreatic duct damage. The operation time was (170.0±22.7) min, and the blood transfusion rate was 0. Postoperative complications occurred in 8 patients, including pancreatic leakage (grade biochemical), pancreatic leakage (grade B), gastroplegia, pancreatic leakage (grade biochemical) combined with bile leakage, intestinal obstruction, pancreatic leakage (grade biochemical) combined with intestinal obstruction, intraperitoneal effusion with infection and incision infection. Postoperative pathological results showed that all patients were diagnosed as choledochal cyst with chronic inflammation of mucosa. After treatment, all patients were cured and discharged.After 5?48 months of follow-up, all patients survived well, without the sign of anastomotic stricture after hepaticojejunostomy, biliary dilatation and carcinogenesis.

    Conclusion

    ·Intrapancreatic choledochal cyst excision through the lowering of intrapancreatic plate approach is safe and effective.

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    Clinical and genetic analysis of one case of cartilage-hair hypoplasia
    Yi YANG, Wen-jun JIANG, Hui-wen ZHANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 280-284.   DOI: 10.3969/j.issn.1674-8115.2021.02.026
    Abstract484)   HTML2)    PDF(pc) (2757KB)(72)       Save

    The main symptom of a female pediatric patient was severely short stature. Ultrasound examinations during pregnancy showed that the limbs were short. The patient was characterized by sparse, fine, and silky hair and prenatal onset of disproportionate short-limb short stature. Radiographic findings showed metaphyseal dysplasia with epiphyseal in terminal femur and proximal tibia. Whole exon sequencing of DNA from peripheral blood was negative. However, sanger sequencing confirmed that the patient had carried g.181G→A/g.255C→T compound heterozygous variants of RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene, which is a non-coding RNA in human genome. The g.255C→T was a novel mutation. The clinical manifestations of cartilage-hair hypoplasia (CHH) are complex and typical symptoms can help diagnose the disease. CHH should be considered as a differential disease when whole exon sequencing was negative in patients with suspected bone disease. Sanger sequencing test can help confirm the diagnosis, contributing to evaluating the prognosis and prenatal diagnosis. Discovery of the novel variants has enriched the variant spectrum of CHH.

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    Application of changing the expansion stress point to the treatment of blood flow disorder of skin and soft tissue expander
    Rao FU, Chuan-qi LIU, Bin FANG, Ru-lin HUANG, Qing-feng LI, Yun XIE
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (2): 277-279.   DOI: 10.3969/j.issn.1674-8115.2021.02.025
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    The case is a 10-year-old male patient with facial scar deformity, who was admitted to the hospital 6 years after burns. Bilateral soft tissue expanders were implanted on his neck in order to improve facial scars. Later, the local hypertonicity, thinning of the skin and blood flow disorder of the expanded skin during the water injection were found and the existing treatments were not effective. The patient was re-admitted to hospital and a customized neck expander was replaced under local anesthesia to change the local stress of the weak point and complete further expansion. The expander had a water injection volume of 1 200 mL in the end. After that, the flap transfer repair operation was successfully completed. The clinical data of the case and the treatment of blood flow disorder caused by the implantation of the expander can provide reference for other surgeons.

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    Progress of cardioprotection effect of sodium-glucose cotransporter 2 inhibitor on patients with type 2 diabetes
    Min SUN, Dong-ying ZHANG
    JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE)    2021, 41 (3): 391-395.   DOI: 10.3969/j.issn.1674-8115.2021.03.019
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    As a novel anti-diabetes drug, sodium-glucose cotransporter 2 inhibitor (SGLT2i) can decrease the all-cause mortality, the risk of major adverse cardiac event (MACE) and rate of heart failure hospitalization in patients with type 2 diabetes. Studies found that besides the function of glycemic control, SGLT2i could reduce the preload and afterload of heart, improve the hemodynamics, attenuate myocardial fibrosis and rejuvenate myocardial energetics. In this paper, clinical trials about SGLT2i in recent years and the mechanisms are reviewed to discuss the progress of the cardioprotection effect of SGLT2i on patients with type 2 diabetes.

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