Comparison of clinical efficacy of NOSES combined with ERAS and conventional laparoscopic surgery in treatment of rectal cancer / 解放军医学杂志

Objective To compare the clinical efficacy of natural orifice specimen extraction surgery(NOSES)combined with enhanced recovery after surgery(ERAS)and conventional laparoscopic surgery in treatment of rectal cancer patients.Methods A hundred patients with rectal cancer in the Department of Colorectal and Anal Surgery,the 940th Hospital of Joint Logistics Support Force of PLA were selected as the research objects from January 2019 to December 2021,including 49 cases treated with NOSES combined with ERAS were set as the observation group,and 51 cases treated with conventional laparoscopic surgery of rectal cancer were set as the control group.Postoperative C-reactive protein(CRP),procalcitonin(PCT),interleukin-6(IL-6),white blood cell count(WBC),percentage of neutrophil(NEUT),K+ concentration,postoperative peristalsis recovery time,first time out-of-bed activity,first liquid feeding time,removal time of urinary,and drainage tubes,hospital stay and intraoperative blood loss,number of lymph node detection,positive margin rate,incidence of complications,and pain score were compared between the two groups.Results The observation group showed significant lower postoperative CRP,PCT,IL-6 levels when compared with control group(P<0.05),while no significant difference in K+ concentration between the two groups(P>0.05).The recovery time of intestinal peristalsis,the time of the first out-of-bed activity,the first liquid feeding time,the time of removal of the urinary tube and the drainage tube,and the number of days of hospitalization in observation group were all superior to the control group(P<0.05).The observation group with the duration of surgery was longer than the control group,and the difference was statistically significant(P<0.05).There were no significant differences in intraoperative bleeding,number of lymph nodes detected and positive rate of resection margins between the two groups(P>0.05).There was no significant difference in the incidence of complications between the two groups(4.1%vs.7.8%,P>0.05).The observation group showed significant lower pain scores than control group on the 1st,2nd and 3rd day after surgery(P<0.05).Conclusions NOSES combined with ERAS in treatment of rectal cancer patients is safe and feasible,can narrow the surgical incision,alleviate stress response and postoperative pain,improve postoperative efficacy and reduce the occurrence of complications,so is worthy of promotion and application.

Predictors of curative effect of Quyin Koufuye and its synergistic effect on biologics in the treatment of psoriasis / 中国临床药理学与治疗学

AIM: To assess the efficacy of Quyin Koufuye in different types of psoriasis vulgaris and analyzes the relationship between efficacy and various disease-related factors, as well as its complementary role in biologic therapy. METHODS: This study included a total of 396 patients with psoriasis. Based on the patient history, participants were categorized into the biologics group (n=98), Quyin Koufuye-assisted biologics group (n=62), and Quyin Koufuye monotherapy group (n=236). Patient history data were collected, including gender, duration of illness, disease type, initial site of onset, degree of itching, recurrence status and time, smoking habits, joint pain, family history of psoriasis, nail damage, treatment plan, and PASI/BSA scores. A retrospective analysis was conducted to identify factors influencing the efficacy of Quyin Koufuye and to analyze its combined effects with biologics. RESULTS: Combining Quyin Koufuye with biologics significantly boosted the PASI90 response rate to 72.6% (P=0.014). Responders to PASI50 with Quyin Koufuye experienced longer recurrence intervals (> 6 months) than non-responders (50% vs. 33.6%, P= 0.045). Influencing factors included psoriasis-affected body surface area (OR=0.960, P=0.000), prolonged smoking history (OR=2.10, P=0.046), and psoriasis type (OR=2.47, P=0.015). CONCLUSION: This study underscores the synergy of Quyin Koufuye and biologics in treating psoriasis, particularly for longer recurrence intervals-factors like smoking history, psoriasis type, and affected body surface area impact Quyin Koufuye's efficacy.

Surveillance of the progression and assessment of treatment endpoints for nonalcoholic steatohepatitis

Nonalcoholic steatohepatitis (NASH) is an aggressive form of nonalcoholic fatty liver disease (NAFLD) characterized by steatosis-associated inflammation and liver injury. Without effective treatment or management, NASH can have life-threatening outcomes. Evaluation and identification of NASH patients at risk for adverse outcomes are therefore important. Key issues in screening NASH patients are the assessment of advanced fibrosis, differentiation of NASH from simple steatosis, and monitoring of dynamic changes during follow-up and treatment. Currently, NASH staging and evaluation of the effectiveness for drugs still rely on pathological diagnosis, despite sample error issues and the subjectivity associated with liver biopsy. Optimizing the pathological assessment of liver biopsy samples and developing noninvasive surrogate methods for accessible, accurate, and safe evaluation are therefore critical. Although noninvasive methods including elastography, serum soluble biomarkers, and combined models have been implemented in the last decade, noninvasive diagnostic measurements are not widely applied in clinical practice. More work remains to be done in establishing cost-effective strategies both for screening for at-risk NASH patients and identifying changes in disease severity. In this review, we summarize the current state of noninvasive methods for detecting steatosis, steatohepatitis, and fibrosis in patients with NASH, and discuss noninvasive assessments for screening at-risk patients with a focus on the characteristics that should be monitored at follow-up.

Yishen Yanggan Mingmu formula combined with anti-vascular endothelial growth factor drugs for the treatment of wet age-related macular degeneration / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To observe the clinical efficacy of Yishen Yanggan Mingmu formula combined with anti-vascular endothelial growth factor(VEGF)in the treatment of wet age-related macular degeneration(wARMD).METHODS: A total of 58 patients(58 eyes)with wARMD who were treated in Ningbo Eye Hospital from September 2020 to November 2022 were collected. They were divided into two groups according to randomized digital table: 29 patients(29 eyes)for the combination group and the other 29 patients(29 eyes)for the injection group. The injection group was only given intravitreal injection of conbercept; the combination group was orally administrated with Yishen Yanggan Mingmu formula combined with intravitreal injection of conbercept. The best corrected visual acuity(BCVA), central macular thickness(CMT)and the improvement of traditional Chinese medicine(TCM)syndromes after 3mo of treatment were observed and the clinical efficacy was evaluated.RESULTS: After 3mo of treatment, the total improved effective rate of the combination group(76%)was higher than the rate of the injection group(66%). After the treatment, the BCVA of the two groups was both higher than that before treatment(P&#x003C;0.05), the CMT in both groups was lower than that before the treatment(P&#x003C;0.05), and the improvement of CMT of the combination group was better than the injection group(-155.93±143.79μm vs. -95.36±56.81μm, P&#x003C;0.05). After 3mo of treatment, each kinds of TCM syndrome in the combination group were significantly improved compared with those syndromes before the treatment(P&#x003C;0.001). In the injection group, only blurred vision was improved(P&#x003C;0.05). After the treatment, the scores of dizziness and insomnia, soreness and weakness of waist and knees, paleness and cold limbs, dry eyes and fatigue in the combination group were significantly lower than the injection group(P&#x003C;0.001).CONCLUSIONS: The Yishen Yanggan Mingmu formula combined with intravitreal anti-VEGF drug injection is effective in the treatment of wARMD.

Expression, purification and characterization of a novel bis (hydroxyethyl) terephthalate hydrolase from Hydrogenobacter thermophilus / 生物工程学报

PET (polyethylene terephthalate) is one of the most important petrochemicals that is widely used in mineral water bottles, food and beverage packaging and textile industry. Because of its stability under environmental conditions, the massive amount of PET wastes caused serious environmental pollution. The use of enzymes to depolymerize PET wastes and upcycling is one of the important directions for plastics pollution control, among which the key is the depolymerization efficiency of PET by PET hydrolase. BHET (bis(hydroxyethyl) terephthalate) is the main intermediate of PET hydrolysis, its accumulation can hinder the degradation efficiency of PET hydrolase significantly, and the synergistic use of PET hydrolase and BHET hydrolase can improve the PET hydrolysis efficiency. In this study, a dienolactone hydrolase from Hydrogenobacter thermophilus which can degrade BHET (HtBHETase) was identified. After heterologous expression in Escherichia coli and purification, the enzymatic properties of HtBHETase were studied. HtBHETase shows higher catalytic activity towards esters with short carbon chains such as p-nitrophenol acetate. The optimal pH and temperature of the reaction with BHET were 5.0 and 55 ℃, respectively. HtBHETase exhibited excellent thermostability, and retained over 80% residual activity after treatment at 80 ℃ for 1 hour. These results indicate that HtBHETase has potential in biological PET depolymerization, which may facilitate the enzymatic degradation of PET.

Engineering the plastic degradation enzyme Ple629 from marine consortium to improve its thermal stability / 生物工程学报

Petrochemical-derived polyester plastics such as polyethylene terephthalate (PET) and polybutylene adipate terephthalate (PBAT) have been widely used. However, the difficulty to be degraded in nature (PET) or the long biodegradation cycle (PBAT) resulted in serious environmental pollution. In this connection, treating these plastic wastes properly becomes one of the challenges of environment protection. From the perspective of circular economy, biologically depolymerizing the waste of polyester plastics and reusing the depolymerized products is one of the most promising directions. Recent years have seen many reports on polyester plastics degrading organisms and enzymes. Highly efficient degrading enzymes, especially those with better thermal stability, will be conducive to their application. The mesophilic plastic-degrading enzyme Ple629 from the marine microbial metagenome is capable of degrading PET and PBAT at room temperature, but it cannot tolerate high temperature, which hampers its potential application. On the basis of the three-dimensional structure of Ple629 obtained from our previous study, we identified some sites which might be important for its thermal stability by structural comparison and mutation energy analysis. We carried out transformation design, and performed expression, purification and thermal stability determination of the mutants. The melting temperature (Tm) values of mutants V80C and D226C/S281C were increased by 5.2 ℃ and 6.9 ℃, respectively, and the activity of mutant D226C/S281C was also increased by 1.5 times compared with that of the wild-type enzyme. These results provide useful information for future engineering and application of Ple629 in polyester plastic degradation.

Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1).@*METHODS@#A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development. Trio-WES revealed that the proband and her daughter, sister and mother have harbored a heterozygous c.224A>G (p.Asn75Ser) variant of the OFD1 gene. The same variant was not found among healthy members from her pedigree.@*CONCLUSION@#The c.224A>G (p.Asn75Ser) variant probably underlay the OFD1 in this pedigree. Above discovery has enriched the spectrum of OFD1 gene variants.

Prediction of Lymph Node Metastasis of Mixed Ground-glass Nodules Based on Clinical Imaging Information / 中国肺癌杂志

BACKGROUND@#Previous studies have shown that lymph node metastasis only occurs in some mixed ground-glass nodules (mGGNs) which the pathological results were invasive adenocarcinoma (IAC). However, the presence of lymph node metastasis leads to the upgrading of tumor-node-metastasis (TNM) stage and worse prognosis of the patients, so it is important to perform the necessary evaluation before surgery to guide the operation method of lymph node. The aim of this study was to find suitable clinical and radiological indicators to distinguish whether mGGNs with pathology as IAC is accompanied by lymph node metastasis, and to construct a prediction model for lymph node metastasis.@*METHODS@#From January 2014 to October 2019, the patients with resected IAC appearing as mGGNs in computed tomography (CT) scan were reviewed. All the lesions were divided into two groups (with lymph node metastasis or not) according to their lymph node status. Lasso regression model analysis by applying R software was used to evaluate the relationship between clinical and radiological parameters and lymph node metastasis of mGGNs.@*RESULTS@#A total of 883 mGGNs patients were enroled in this study, among which, 12 (1.36%) showed lymph node metastasis. Lasso regression model analysis of clinical imaging information in mGGNs with lymph node metastasis showed that previous history of malignancy, mean density, mean density of solid components, burr sign and percentage of solid components were informative. Prediction model for lymph node metastasis in mGGNs was developed based on the results of Lasso regression model with area under curve=0.899.@*CONCLUSIONS@#Clinical information combined with CT imaging information can predict lymph node metastasis in mGGNs.

Clinical features and long-term prognosis of diabetic patients with low or intermediate complexity coronary artery disease post percutaneous coronary intervention / 中华心血管病杂志

Objective: To investigate the clinical features and long-term prognostic factors of diabetic patients with low or intermediate complexity coronary artery disease (CAD) post percutaneous coronary intervention (PCI). Methods: This was a prospective, single-centre observational study. Consecutive diabetic patients with SYNTAX score (SS)≤32 undergoing PCI between January and December 2013 in Fuwai hospital were included in this analysis. The patients were divided into two groups based on SS, namely SS≤22 group and SS 23-32 group. Multivariate Cox regression analysis was performed to identify independent factors related to poor 5-year prognosis. The primary outcomes were cardiac death and recurrent myocardial infarction, the secondary outcomes were all cause death and revascularization. Results: Of the 3 899 patients included in the study, 2 888 were men (74.1%); mean age was 59.4±9.8 years. There were 3 450 patients in the SS≤22 group and 449 patients in the SS 23-32 group. Compared with SS≤22 group, the incidence of revascularization was higher in SS 23-32 group (18.9% (85/449) vs. 15.2% (524/3450), log-rank P=0.019). There was no significant difference in all-cause death, cardiac death and recurrent myocardial infarction between the two groups (log-rank P>0.05). Multivariate Cox regression analysis showed that age (HR=1.05, 95%CI 1.02-1.08, P<0.001), chronic obstructive pulmonary disease (HR=3.12, 95%CI 1.37-7.07, P=0.007) and creatinine clearance rate (CCr)<60 ml/min (HR=3.67, 95%CI 2.05-6.58, P<0.001) were independent risk factors for 5-year cardiac death, while left ventricular ejection fraction (HR=0.94, 95%CI 0.91-0.96, P<0.001) was a protective factor. Previous PCI (HR=2.04, 95%CI 1.38-3.00, P<0.001), blood glucose level≥11.1 mmol/L on admission (HR=2.49, 95%CI 1.32-4.70, P=0.005) and CCr<60 ml/min (HR=1.85, 95%CI 1.14-2.99, P=0.012) were independent risk factors for 5-year recurrent myocardial infarction. The SS of 23-32 was independently associated with risk of revascularization (HR=1.54, 95%CI 1.09-2.16, P=0.014), after adjusting for residual SS. Residual SS was not a risk factor for 5-year prognosis. Conclusions: In diabetic patients with low-or intermediate complexity CAD, SS 23-32 is associated with increased risk of 5-year revascularization; the clinical characteristics of the patients are associated with the long-term mortality and recurrent myocardial infarction, but not related to revascularization.

Increased expression of SLC38A2 in natural killer cells promotes anti-tumor immunity / 肿瘤

Objective:To investigate the effect of solute carrier family 38 member 2(SLC38A2)on the cytotoxicity of natural killer(NK)cells against tumor cells. Methods:Real-time fluorescence quantitative PCR was used to detect the mRNA expression of different glutamine transporters(SLC38A2,SLC1A5,SLC7A5,SLC7A1 and SLC1A4)in natural killer(NK)cells under glutamine deficiency or the spleens of dieting mice.NK-92MI cells were infected with the recombinant lentivirus carrying SLC38A2 gene to construct SLC38A2-overexpressing NK cells.After SLC38A2 overexpression or increasing glutamine concentration,the lactate dehydrogenase releasing assay was used to detect the cytotoxicity of NK cells against pancreatic tumor cell PANC-1 and liver cancer cell HUH-7,and the apoptosis of two tumor cells was detected by flow cytometry assay after AnnexinV/7-AAD staining.Finally,the expression level of cell surface CD107a,a degranulation marker,as well as the expression of cytotoxic effectors interferon-γ(IFN-γ)and tumor necrosis factor-α(TNF-α),in NK cells was further investigated by flow cytometry. Results:The mRNA expression of glutamine transporter SLC38A2 was significantly upregulated in NK cells under glutamine deficient conditions and the spleens of dieting mice(P＜0.001,P＜0.01).SLC38A2-overexpressing NK-92MI cell model were successfully established.Overe-xpression of SLC38A2 or glutamine treatment could significantly increase the cytotoxicity of NK-92MI cells against pancreatic tumor cell PANC-1 and liver cancer cell HUH-7(P＜0.05)and obviously promote the apoptosis of tumor cells(P＜0.01).Flow cytometry analysis results showed that SLC38A2-overexpressing NK-92MI cells significantly increased CD1 07a expression on the cell surface and produced more IFN-γ and TNF-α when co-cultured with tumor cells(P＜0.001). Conclusion:The amino acid transporter SLC38A2 can significantly enhance the cytotoxicity of NK cells against tumor cells.

Abdominal contrast-enhanced CT for diagnosing and transcatheter arterial embolization for treating spontaneous retroperitoneal hematoma / 中国介入影像与治疗学

Objective To observe the value of abdominal contrast-enhanced CT for diagnosis of spontaneous retroperitoneal hematoma(SRH)and transcatheter arterial embolization for treating SRH.Methods Data of 7 SRH patients were retrospectively analyzed,including 4 cases diagnosed with abdominal contrast-enhanced CT,1 case diagnosed with plain CT and 2 cases diagnosed with abdominal ultrasound.Transcatheter angiography was performed to explore the offending artery of SRH which were then treated with trancatheter arterial embolization.The total angiographic time,i.e.the time span between the first and the last angiography was recorded and the treatment effect was observed.Results Among 7 patients,the offending artery of SRH was identified and embolized,and 30 days follow-up showed stable condition in 6 cases.The offending artery of SRH was not found in 1 case who then received conservative medical treatment,and the condition remained stable.The total angiographic time in 4 cases diagnosed with abdominal contrast-enhanced CT were 32-60 min,with a median time of 47.5 min,while in the rest 3 were 36-80 min,with a median time of 63.0 min.Conclusion Abdominal contrast-enhanced CT was helpful to diagnosis and displaying the offending artery of SRH.Transcatheter arterial embolization was effective for treating SRH.

Aspiration risk of preventive placement of nasal jejunum nutrition tube in advanced esophageal cancer patients receiving radiotherapy and the influencing factors / 肿瘤研究与临床

Objective:To investigate the aspiration risk of preventive placement of nasal jejunum nutrition tube in advanced esophageal cancer patients receiving radiotherapy and the influencing factors.Methods:The clinical data of 220 patients with advanced esophageal cancer who received radiotherapy and preventive placement of nasal jejunum nutrition tube feeding from November 2020 to November 2021 in Cancer Hospital, Chinese Academy of Medical Sciences were retrospectively analyzed. The level of aspiration risk was measured according to the standard swallowing function assessment scale (SSA). The questionnaire collected the following data: (1) the general data including gender, age, educational level, history of smoking, history of alcoholism, knowledge of aspiration; (2) the disease factors including tumor staging, tumor site, swallowing function, abdominal distention; (3) the nosocomial factors including history of esophageal cancer surgery, sedation and analgesia treatment, combination of chemotherapy or not, cumulative radiotherapy dose, grade of radiation esophagitis, the position, time and tube feeding method of enteral nutrition. The standard swallowing function of patients was measured and repeated saliva swallowing test (RSST) was used to screen the patients with the difficulty in the esophageal function swallowing. Multiple linear regression was used to analyze the factors affecting aspiration risk.Results:A total of 220 patients with advanced esophageal cancer were enrolled in the investigation. Finally, 70 patients (31.8%) had grade 0 aspiration risk, and SSA score was 19; 23 patients (10.5%) had grade I aspiration risk, and SSA score was (23.4±1.3); 103 patients (46.8%) had grade Ⅱ aspiration risk, and SSA score was (27.5±1.1); 24 patients (10.9%) had grade Ⅲ aspiration risk, and SSA score was (33.2±1.5); 136 patients (61.8%) in total had aspiration risk. There were 32.7% (72/220) patients knowing the knowledge of aspiration. Multifactor analysis showed that esophageal tumor site ( t = -2.869, P = 0.005), cumulative radiotherapy dose ( t = 5.558, P < 0.001), grade of radiation esophagitis ( t = 11.405, P < 0.001), the duration time of enteral nutrition ( t = 4.050, P < 0.001) were independent factors affecting the aspiration risk. Conclusions:The aspiration risk of preventive placement of nasal jejunum nutrition tube in advanced esophageal cancer patients receiving radiotherapy is high, which is related to esophageal tumor site, grade of radiation esophagitis, cumulative radiotherapy dose and the duration time of enteral nutrition.

Deubiquitinating enzyme MINDY1 is an independent risk factor for the maintenance of stemness and poor prognosis in liver cancer cells / 中华肝脏病杂志

Objective: To explore the key deubiquitinating enzymes that maintain the stemness of liver cancer stem cells and provide new ideas for targeted liver cancer therapy. Methods: The high-throughput CRISPR screening technology was used to screen the deubiquitinating enzymes that maintain the stemness of liver cancer stem cells. RT-qPCR and Western blot were used to analyze gene expression levels. Stemness of liver cancer cells was detected by spheroid-formation and soft agar colony formation assays. Tumor growth in nude mice was detected by subcutaneous tumor-bearing experiments. Bioinformatics and clinical samples were examined for the clinical significance of target genes. Results: MINDY1 was highly expressed in liver cancer stem cells. The expression of stem markers, the self-renewal ability of cells, and the growth of transplanted tumors were significantly reduced and inhibited after knocking out MINDY1, and its mechanism of action may be related to the regulation of the Wnt signaling pathway. The expression level of MINDY1 was higher in liver cancer tissues than that in adjacent tumors, which was closely related to tumor progression, and its high expression was an independent risk factor for a poor prognosis of liver cancer. Conclusion: The deubiquitinating enzyme MINDY1 promotes stemness in liver cancer cells and is one of the independent predictors of poor prognosis in liver cancer.

Application progress of Ilizarov technique in orthopedics / 中国基层医药

Ilizarov technique is designed based on the "tension-stress principle". Application of the Ilizarov technique can help form a stable mechanical structure through external fixation. It only creates small wounds, without peeling off the surrounding tissue and periosteum. It connects different types of fixation pins and bone or soft tissue to form a traction force, which continuously stimulates the regeneration of bone and tissue and improves the local blood supply and early functional rehabilitation exercises, forming a complete set of minimally invasive orthopedic treatment systems. Ilizarov technique has achieved good results in fracture healing, deformity correction, tissue repair, osteomyelitis, bone nonunion, bone defect, and bone tumor. This paper will summarize the clinical application and research of the Ilizarov technique in orthopedics and explore the key problems of the Ilizarov technique that need to be solved at present.

Ultrashortwave therapy can inhibit inflammation and promote recovery from spinal cord injury / 中华物理医学与康复杂志

Objective:To observe any effect of ultrashortwave (USW) therapy on inflammatory cytokines and the MAPK pathway of rats with a spinal cord injury.Methods:Seventy-nine Sprague-Dawley rats were randomly divided into a control group ( n=35), an intervention group ( n=35) and a sham group ( n=9). Allen′s method was used to establish a contusion model of SCI in the rats of the control and intervention groups, while the sham group′s spinal tissues were exposed but not stricken. Beginning twenty-four hours after SCI modeling, the intervention group was given 7min of USW therapy daily, five days a week till the day of sacrifice for sampling the target area of spinal cord for tests. Then, motion function was evaluated using Basso, Beattie and Bresnahan (BBB) scoring. One, three and seven days after the SCI modeling, immunofluorescence and western blotting were employed to observe any changes in inflammatory factors and the MAPK pathway in the lesioned area. Results:Fourteen days after the modeling the average BBB score of the intervention group was significantly higher than the control group′s average. Moreover, 7 days after the modeling the average content of the domains containing protein 3 (NLRP3), interleukin-6 (IL-6), IL-6 receptor and tumor necrosis factor-α (TNF-α) in the target area of the spinal cord of sham group showed significantly lower levels than in the other 2 groups. And the levels in the intervention group were significantly lower than in the control group. Seven days after the modeling the number of cells positive for zinc finger protein 36 (TTP) in the lesioned area of the intervention group was significantly greater than among the control group. At the same time the levels of MAPK-activated protein kinase 2 (MK2), phosphorylated-mitogen-activated protein kinase-activated version (p-MK2) and TTP in the control and intervention groups were significantly higher than in the sham group. And there were significant differences between the intervention group and control group in the levels of MK2, p-MK2 and TTP.Conclusion:Ultrashortwave therapy can inhibit inflammation by regulating the MAPK inflammatory pathway, promoting the recovery of motion functions, at least in rats.

Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical feature and genetic etiology of a patient with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) due to variant of CHD7 gene.@*METHODS@#A patient who had presented at Anhui Provincial Children's Hospital in October 2022 was selected as the study subject. Clinical data of the patient was collected. The patient and his parents were subjected to trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient had featured delayed development of secondary sexual characteristics but normal olfactory function. Genetic testing revealed that he has harbored a c.3052C>T (p.Pro1018Ser) missense variant of the CHD7 gene, for which both of his parents were of the wild type. The variant has not been recorded in the PubMed and HGMD databases. Analysis of amino acid sequences suggested that the variant site is highly conserved, and the variant may affect the stability of protein structure. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.3032C>T variant was classified as a likely pathogenic (PS2+PM2_Supporting+PP2+PP3+PP4).@*CONCLUSION@#The delayed development of secondary sexual characteristics of the patient may be attributed to the c.3052C>T (p.Pro1018Ser) variant of the CHD7 gene. Above finding has expanded the variation spectrum of the CHD7 gene.

Allosteric inhibition reveals SHP2-mediated tumor immunosuppression in colon cancer by single-cell transcriptomics

Colorectal cancer (CRC), a malignant tumor worldwide consists of microsatellite instability (MSI) and stable (MSS) phenotypes. Although SHP2 is a hopeful target for cancer therapy, its relationship with innate immunosuppression remains elusive. To address that, single-cell RNA sequencing was performed to explore the role of SHP2 in all cell types of tumor microenvironment (TME) from murine MC38 xenografts. Intratumoral cells were found to be functionally heterogeneous and responded significantly to SHP099, a SHP2 allosteric inhibitor. The malignant evolution of tumor cells was remarkably arrested by SHP099. Mechanistically, STING-TBK1-IRF3-mediated type I interferon signaling was highly activated by SHP099 in infiltrated myeloid cells. Notably, CRC patients with MSS phenotype exhibited greater macrophage infiltration and more potent SHP2 phosphorylation in CD68+ macrophages than MSI-high phenotypes, suggesting the potential role of macrophagic SHP2 in TME. Collectively, our data reveals a mechanism of innate immunosuppression mediated by SHP2, suggesting that SHP2 is a promising target for colon cancer immunotherapy.

Application value of modified Overlap esophagogastric tube reconstruction in totally laparos-copic radical proximal gastrectomy / 中华消化外科杂志

Objective:To investigate the application value of modified Overlap esophago-gastric tube (MO-EG) reconstruction in totally laparoscopic radical proximal gastrectomy.Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 7 patients with upper gastric cancer or adenocarcinoma of esophagogastric junction (AEG) who underwent totally laparoscopic radical proximal gastrectomy with MO-EG reconstruction in the Second Hospital of Jilin University from January 2019 to December 2020 were collected. There were 4 males and 3 females, aged 62(range, 55-72)years. The body mass index of the 7 patients was 21.5(range, 18.5-26.0)kg/m 2. Of the 7 patients, 2 cases had early upper third gastric cancer and 5 cases had Siewert Ⅱ AEG. All patients underwent totally laparoscopic radical proximal gastrectomy with MO-EG recons-truction using barbed sutures. Observation indicators: (1) surgical situations; (2) postoperative recovery situations; (3) postoperative histopathological examinations; (4) follow-up. Follow-up was conducted using outpatient examination and telephone interview to detect postoperative esophageal reflux, endoscopic classification of esophageal reflux, anastomotic complications, tumor recurrence and metastasis and survival of patients up to December 2021. Measurement data with normal distribution were represented as Mean±SD and measurement data with skewed distribution were represented as M(range). Count data were described as absolute numbers. Results:(1) Surgical situations. All the 7 patients underwent totally laparoscopic radical proximal gastrectomy and D 1+ lymph node dissection with MO-EG reconstruction through abdominal transhiatal approach. None of the 7 patients underwent conversion to open surgery or additional thoracotomy. The operation time, time of digestive reconstruction, volume of intraoperative blood loss and length of esophagus dissected of 7 patients were (271±36)minutes, (44±10)minutes, (53±26)mL and (6.4±0.3)cm, respec-tively. (2) Postoperative recovery situations. The time to postoperative initial out-of-bed activities, time to postoperative first flatus, time to postoperative initial liquid food intake and duration of hospital stay of 7 patients were (21±5)hours, (2.9±0.9)days, (5.0±0.7)days and (10.1±1.9)days, respectively. None of the 7 patients had postoperative severe complications such as bleeding, anasto-motic leakage or mortality. One patient had postoperative pulmonary infection and recovered after anti-infection treatment. Two patients had pleural effusion and were improved after conserva-tive treatment. (3) Postoperative histopathological examinations. The tumor diameter of 7 patients was (2.5±0.7)cm. Histopathological examination of upper margins of 7 patients was negative. The distance between the esophagus margin and the superior margin of the tumor of patients with AEG was (1.8±0.6)cm. The number of lymph node dissected and the number of inferior mediastinum lymph node dissected of 7 patients were 26.0±3.6 and 3.7±1.1, respectively. Pathological TNM stages of 7 patients were 2 cases of stage ⅠB, 4 cases of ⅡA, 1 case of ⅡB. (4) Follow-up. All the 7 patients were followed up for 18(range, 12?36)months. Of the 7 patients, 4 cases reported asymptomatic, 2 cases had symptoms of reflux and 1 case had chocked feeling after eating. All the 7 patients underwent barium meal examination of gastrointestinal tract without anastomotic dysfunction or anastomotic stenosis. Six of the 7 patients underwent gastroscopy at postoperative 1 year and only 1 of them reported grade B reflux esophagitis according to Los Angeles classification, while the rest of 5 patients had no evidence of obvious reflux. None of the 7 patients had postoperative gastric cancer tumor recurrence, metastasis or death. Conclusion:Application of MO-EG reconstruction in totally laparoscopic radical proximal gastrectomy is safe and feasible, with satisfactory short-term effects.

Risk factors of hepatic artery injury during percutaneous transhepatic biliary drainage / 中华普通外科杂志

Objective:To investigate the incidence and risk factors of hepatic artery injury during percutaneous transhepatic biliary drainage (PTBD).Methods:From Apr 2002 to Dec 2020, the clinical data of 1 446 patients undergoing PTBD were retrospectively analyzed.Results:Hepatic artery injury occurred in 7 cases, with an incidence of 0.48%. Fluoroscopy guided puncture was used in all cases. In those 7 cases (0.48%) a drainage catheter was failed to put in place after multiple attempts, hepatic artery injury occurred in 1 case; One drainage catheter was inserted in 1 314 cases (90.87%), hepatic artery injury occurred in 5 cases; One hundred and twenty-five cases (8.65%) were implanted with two drainage catheter, and 1 case had hepatic artery injury. Failure to successfully insert the drainage catheter increase the incidence of hepatic artery injury ( OR=0.06,95% CI 0.01-0.71, P=0.026) .There were 1 430 cases (98.89%) with oblique needle tip and 5 cases had hepatic artery injury; There were 16 cases (1.11%) with triangular needle tip and 2 cases had hepatic artery injury. Triangular needle tip increased the incidence of hepatic artery injury( OR=55.57, 95% CI 6.84-451.38, P<0.001). Conclusion:Hepatic artery injury is a rare complication of PTBD.The use of triangular needle and the failure of drainage were the risk factors of hepatic artery injury.

Genetic analysis of a pedigree of DYNC2H1 gene variation-caused short rib polydactyly syndrome type Ⅲ / 中华围产医学杂志

This paper reported the genetic analysis of a pedigree in which three affected fetuses with short limbs were revealed by first-trimester ultrasonography in three consecutive pregnancies. Tissues of the second aborted fetus were collected and analyzed by chromosome karyotype analysis and whole exome sequencing. The results indicated compound heterozygous mutations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene. Real-time fluorescence quantitative polymerase chain reaction and Sanger sequencing further confirmed that the two variants were inherited from the father and the mother with normal phenotypes, respectively. EX64-EX83 Del was a likely pathogenic variant and c.8190G>T was a variant of uncertain significance. Based on the above results and the medical history, it was highly suspected that the fetus had autosomal recessive short rib polydactyly syndrome type Ⅲ caused by compound heterozygous variants. Real-time fluorescent quantitative polymerase chain reaction and Sanger sequencing results of the third aborted fetus were consistent with the second fetus. Given the same phenotypes of fetuses in the second and third pregnancy, it was strongly suggested that the heterozygous variations of EX64-EX83 Del and c.8190G>T in the DYNC2H1 gene were the pathogenic variants in this pedigree.