Clinical phenotypes and genotypes of hidradenitis suppurativa/acne inversa / 中华皮肤科杂志

Hidradenitis suppurativa (HS) /acne inversa (AI) is a chronic, recurrent and inflammatory skin disease caused by follicular atresia with varying clinical manifestations, and there is no unified classification criteria for it in China and other countries. Based on its clinical characteristics, gene mutations and their correlations, researchers have enriched the subtype classification of HS/AI. This review summarizes recent advances in clinical phenotypes and genotypes of HS/AI as well as their relationships, in order to help clinicians better understand the disease, and provide a theoretical basis for correct diagnosis and individualized treatment strategies.

Characteristics of ocular involvement in Chinese patients with hereditary transthyretin amyloidosis / 中华眼底病杂志

Hereditary thyroxine protein amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, characterized by autosomal dominant inheritance, incomplete penetrance, and diverse manifestations. ATTRv deposition leads to visual impairment and even irreversible visual loss, which has a negative impact on the quality of life of patients. The diagnostic rate of pathological examination and genetic testing in ATTRv patients is low, and the detection rate of systemic amyloid lesions is low. We need to increase our awareness of this disease and gain a deeper understanding of its systemic manifestations and corresponding examination methods; genetic testing is conducted on the proband's family to investigate the relationship between different gene mutations and eye manifestations. In the future, multidisciplinary consultations can be conducted to jointly diagnose and treat patients with ATTRv eye involvement, conducting large-scale and long-term follow-up studies on the early clinical characteristics, treatment plans, efficacy, possible complications, and early prevention, in order to improve clinical diagnosis rate, reduce misdiagnosis rate, and improve patient prognosis.

Effects of different auricular point therapies on digestive symptoms and quality of life in patients undergoing platinum-based chemotherapy / 针灸推拿医学（英文版）

Objective:To compare the effects of auricular point intradermal needling with auricular point sticking on digestive symptoms and quality of life in patients undergoing platinum-based chemotherapy regimens. Methods:Ninety-six patients receiving platinum-based chemotherapy were randomly assigned to three groups using the random number table method,with 32 cases in each group.The control group received conventional nursing care plus 5-hydroxytryptamine receptor antagonist,and the other two groups received additional auricular point intradermal needling or sticking.For the three groups of participants,the acute and delayed vomiting and nausea severity,quality of life,and the additional antiemetic consumption rate were observed. Results:The three groups had no significant differences in the acute vomiting frequency and nausea severity and appetite(P>0.05)but had significant differences in the delayed vomiting frequency and nausea severity(P<0.05);the auricular point intradermal needling group won over the auricular point sticking group.The three groups showed significant differences in comparing the appetite in the delayed stage(P<0.05);both auricular point intradermal needling and sticking groups showed advantages over the control group(P<0.05),but no significant difference existed between the auricular point intradermal needling and sticking groups(P>0.05).There were significant differences in comparing the functional living index-emesis(FLIE)score in both acute and delayed stages among the three groups(P<0.05)and the result favored the auricular point intradermal needling group over the auricular point sticking group(P<0.05).The additional antiemetic consumption rate was higher in the control group than in the other groups(P<0.05). Conclusion:Based on the conventional nursing and 5-hydroxytryptamine receptor antagonist,adding either auricular point intradermal needling or auricular point sticking can lower the vomiting frequency and nausea severity in the delayed stage and improve appetite in patients receiving platinum-based chemotherapy regimen,but they have no notable impact on digestive symptoms in the acute stage;auricular point intradermal needling is superior to auricular point sticking in comparing the overall efficacy.Both auricular point intradermal needling and auricular point sticking can enhance the quality of life in patients undergoing chemotherapy and reduce their additional antiemetic consumption.

Clinical study of drug-coated balloon in the treatment of symptomatic intracranial atherosclerotic stenosis / 中华放射学杂志

Objective:To evaluate the safety and efficacy of drug-coated balloon (DCB) in the treatment of symptomatic intracranial atherosclerotic stenosis.Methods:Forty-nine patients with symptomatic intracranial atherosclerotic stenosis treated with DCB in the People′s Hospital of Zhengzhou University from January 2018 to August 2021 were retrospectively included. The location and number of lesions were as follows: 21 cases of the middle cerebral artery, 11 cases of the intracranial segment of vertebral artery, 12 cases of the basilar artery, and 5 cases of the intracranial segment of internal carotid artery. Pre-dilatation of the lesion with a normal balloon followed by DCB angioplasty. Clinical follow-up (outpatient or telephone) was carried out at 30 days, 3 months, 6 months, and 1 year after the operation. Imaging follow-up was carried out at 6 months postoperatively. The surgical success rate (defined as the proportion of patients with residual stenosis<50% after balloon dilatation), perioperative safety (any strokes, TIA, and deaths within 1 month), stroke recurrence, and restenosis were analyzed.Results:The operation was performed in all patients successfully. The median stenosis level was 80% (75%, 85%) preoperatively and 20% (15%, 30%) at the time after the operation. The success rate of the operation was 91.8% (45/49). Stenting was given in 11 cases (22.4%, 11/49) for severe flow-limiting vascular entrapment, or non-flow-limiting entrapment, owing to the concern of subsequent progression of the entrapment. Three cases (6.1%, 3/49) had significant vascular elastic retraction and implement stent implantation. One patient (2.0%, 1/49) developed symptomatic cerebral infarction during perioperative period, and the symptoms improved after treatment. No fatal or disabling stroke occurred. All patients were followed-up successfully. The median follow-up time was 12 months. Two patients (4.1%, 2/49) had a stroke in the responsible vascular area, and 1 (2.0%, 1/49) patient had a stroke in the non-responsible vascular area. Thirty-eight patients (77.6%, 38/49) had followed-up images. The median follow-up time of postoperative imaging was 6 months. Restenosis occurred in two cases (1 case had symptomatic restenosis), and the incidence of restenosis was 5.3% (2/38).Conclusions:DCB in the treatment of symptomatic intracranial atherosclerotic stenosis has a high technical success rate, good perioperative safety, and low stroke recurrence rate in short-term follow-up, demonstrating the good feasibility, safety, and efficacy of DCB.

A preliminary study on Candida albicans-induced pyroptosis of murine bone marrow-derived macrophages / 中华皮肤科杂志

Objective:To investigate the effect of Candida albicans ( C. albicans) on pyroptosis of murine bone marrow-derived macrophages (BMDMs) . Methods:Live-cell imaging was used to observe morphologic changes of in vitro C. albicans-infected BMDMs (multiplicity of infection [MOI] = 50) so as to evaluate whether pyroptosis occurred. Cultured BMDMs were divided into a control group and a C. albicans group, which were treated with phosphate-buffered saline and C. albicans suspensions respectively for 6 hours; then, real-time fluorescence-based quantitative PCR was performed to determine the mRNA expression of NOD-like receptor pyrin domain containing 3 (NLRP3), interleukin (IL) -1β and IL-18, and Western blot analysis to determine the protein expression and cleavage levels of NLRP3, caspase-1 and gasdermin D (GSDMD). BMDMs were cultured with C. albicans suspensions for different durations (0, 10, 15, 20, and 25 hours), and enzyme-linked immunosorbent assay was conducted to detect secretion levels of IL-1β and IL-18. Cultured wild-type BMDMs and GSDMD-knockout BMDMs were treated with C. albicans suspensions for 15 minutes, and then rates of phagocytosis of C. albicans by wild-type BMDMs and GSDMD-knockout BMDMs were estimated by flow cytometry; after 6-hour treatment with C. albicans, flow cytometry and lactate dehydrogenase (LDH) release assay were performed to assess mortality rates of wild-type BMDMs and GSDMD-knockout BMDMs. In addition, some wild-type BMDMs and GSDMD-knockout BMDMs were separately divided into blank control group, control group, maximum enzyme activity-sample control group, IL-1β alone group, C. albicans alone group, and IL-1β + C. albicans group, and cell mortality rates were detected by the LDH release assay after treatment with IL-1β and/or C. albicans. Statistical analysis was carried out by using unpaired t test, Kruskal-Wallis test, analysis of variance, and other statistical methods. Results:After in vitro treatment with C. albicans, swelling and ballooning with large bubbles blowing from the plasma membrane occurred in BMDMs, suggesting the occurrence of cell pyroptosis; compared with the control group, the C. albicans group showed significantly increased mRNA expression levels of NLRP3 and IL-1β after 6-hour treatment with C. albicans ( t = 13.02, 17.51, respectively, P = or < 0.001), but no significant change in the IL-18 mRNA expression level ( P = 0.486), and Western blot analysis showed that C. albicans could increase the expression of NLRP3 inflammasomes, as well as cleaved caspase-1 and GSDMD. After the treatment with C. albicans for different durations (0, 10, 15, 20, and 25 hours), the secretion level of IL-1β by BMDMs gradually increased over time ( H = 12.90, P = 0.012), while the secretion level of IL-18 did not significantly change ( F = 0.48, P = 0.753), and the secretion level of IL-1β was significantly lower in the GSDMD-knockout BMDM group than in the wild-type BMDM group ( F = 24.22, P = 0.008). After 15-minute in vitro treatment with C. albicans, the phagocytosis rate of C. albicans was significantly lower in the GSDMD-knockout BMDM group (50.3% ± 1.10%) than in the wild-type BMDM group (58.53% ± 1.19%, t = 5.09, P = 0.007) ; after 6-hour treatment with C. albicans, the cell mortality rate was significantly higher in the GSDMD-knockout BMDM group than in the wild-type BMDM group (flow cytometry: 38.40% ± 0.50% vs. 34.37% ± 0.52%, t = 4.72, P = 0.009; LDH release assay: 22.52% ± 0.18% vs. 12.48% ± 0.15%, t = 42.36, P < 0.001) ; the cell mortality rates of wild-type BMDMs and GSDMD-knockout BMDMs both significantly decreased in the IL-1β + C. albicans groups compared with the C. albicans groups (both P < 0.001) . Conclusion:Pyroptosis could be induced in murine BMDMs after C. albicans infection, which promotes the release of IL-1β and may reduce the mortality rate of macrophages by improving their immune activity.

Drug-coated balloon in the treatment of in-stent restenosis of the vertebrobasilar artery:an application study / 中华放射学杂志

Objective:To evaluate the safety, feasibility and efficacy of drug-coated balloon (DCB) in the treatment of in-stent restenosis (ISR) of the vertebrobasilar artery.Methods:Twenty-one patients with ISR of the vertebrobasilar artery treated with DCB at the Zhengzhou University People′s Hospital from January 2018 to December 2020 were retrospectively included. There were 22 lesions with ISR, of which 8 were located in the initial segments of vertebral artery, 12 were located in the V4 segment of the vertebral artery, and 2 were located in the basilar artery. The clinical prognosis was evaluated by modified Rankin Scale (mRS), and the target vessel restenosis was evaluated by DSA, CTA or MRA. The safety, feasibility and effectiveness of DCB in the treatment of vertebrobasilar artery ISR were analyzed by perioperative complications, technical success rate and follow-up.Results:All 21 patients with ISR underwent successful interventional surgery. No stroke, TIA and death occurred in perioperative period. During the operation, two cases (9.5%) were treated with Apollo stent due to the residual stenosis>50% after DCB dilation. The technical success rate was 90.5%. The mean stenosis of the target vessel was improved immediately from preoperative (78.1±11.3)% to postoperative (22.1±8.3)%. All the 21 patients were followed up. As of the last follow-up in September 2021, the median clinical follow-up period was 19 (12, 33.5) months, and there were no stroke, TIA and death caused by the corresponding artery. The mRS score was 0 in 18 patients 1 in 2 patients and 2 in 1 patient. Imaging follow-up was available in 13 cases (61.9%) with a median follow-up time of 7(5.5, 19) months, and the target vessel restenosis rate was 7.7% (1/13).Conclusions:This preliminary study has shown that DCB in the treatment of ISR of the vertebrobasilar artery is safe and feasible, with a high technical success rate and low restenosis rate, which provides clinical application evidence, but the long-term effect needs further follow-up observation.

Effect of PSENEN gene silencing on the proliferation of and γ-secretase expression in HaCaT cells / 中华皮肤科杂志

Objective:To establish a presenilin enhancer-2 (PSENEN) gene-silenced human immortalized keratinocyte (HaCaT) cell model, and to evaluate the effect of PSENEN gene silencing on the proliferation of and γ-secretase expression in HaCaT cells.Methods:Three shRNAs targeting the PSENEN gene were constructed, and inserted into the linearized LV3-pGLV-h1-GFP-puro vector to establish a recombinant lentiviral expression plasmid. After restriction enzyme digestion and sequencing, lentiviral packaging and purification were performed, and lentiviral titer was determined. Cultured HaCaT cells were divided into 5 groups: shRNA1, shRNA2 and shRNA3 groups treated with the lentivirus solutions containing PSENEN gene-targeted shRNA1, shRNA2 and shRNA3 respectively, NC group treated with the lentivirus solution containing a negative control shRNA (shNC) , and blank group treated without lentivirus solution. After transfection, inverted fluorescence microscopy was performed, and transfection efficiency was determined by flow cytometry. Cell counting kit-8 (CCK8) assay was performed to evaluate the effect of PSENEN gene silencing on the proliferation of HaCaT cells, and real-time fluorescence-based quantitative PCR (qPCR) and Western blot analysis were conducted to determine the mRNA and protein expression of PSENEN, nicastrin (NCT) , presenilin-1 (PS1) and anterior pharynx defective 1a (APH1a) genes respectively. Statistical analysis was carried out by using repeated measures analysis of variance, one-way analysis of variance, and least significant difference t test for multiple comparisons. Results:Inverted fluorescence microscopy showed that fluorescence was observed in the shRNA1 group, shRNA2 group, shRNA3 group and NC group, and flow cytometry showed that the transfection efficiency was over 98% in the above 4 groups. qPCR and Western blot analysis revealed that the mRNA and protein expression of PSENEN gene significantly decreased in the shRNA1 (0.187 ± 0.010, 0.219 ± 0.097, respectively) , shRNA2 (0.163 ± 0.022, 0.208 ± 0.014, respectively) and shRNA3 (0.174 ± 0.009, 0.185 ± 0.062, respectively) groups compared with the NC group (1.054 ± 0.272, 1.076 ± 0.075, respectively, all P < 0.001) . CCK8 assay showed that the cellular proliferative activity significantly increased in the shRNA1 group compared with the NC group at 0, 12, 36 and 48 hours (all P < 0.05) , and there was no significant difference between the 2 groups at 24 or 60 hours (both P > 0.05) ; the cellular proliferative activity was significantly higher in the shRNA2 and shRNA3 groups than in the NC group at 0, 12, 24, 36, 48 and 60 hours (all P < 0.05) . There was no significant difference in the mRNA expression of NCT, PS1 and APH1a genes among the shRNA1 group, shRNA2 group, shRNA3 group, NC group, and blank group ( F= 8.168, 4.644, 1.981, respectively, all P > 0.05) , while the relative protein expression level of mature NCT (mNCT) , immature NCT (imNCT) , carboxyl-terminal fragment of PS1 (PS1-CTF) and APH1a significantly differed among the above 5 groups ( F= 39.268, 5.929, 27.842, 20.663, respectively, all P ≤ 0.01) . Compared with the NC group, the shRNA1, shRNA2 and shRNA3 groups all showed significantly decreased protein expression of mNCT, PS1-CTF and APH1a (all P < 0.01) , but insignificant changes in imNCT protein expression (all P > 0.05) . Conclusion:The PSENEN gene-silenced HaCaT cell model was successfully constructed, and the PSENEN gene silencing could lead to an increase in the cellular proliferative activity of HaCaT cells and a decrease in the protein expression of γ-secretase subunits mNCT, PS1-CTF and APH1a.

Clinical characteristics and complications after vitrectomy in patients with vitreous amyloidosis from three Han nationality families / 中华眼底病杂志

Objective:To observe the clinical characteristics of patients with familial vitreous amyloidosis (FVA) and the efficacy of vitrectomy (PPV) and the occurrence of complications.Methods:A retrospective clinical study. From June 2009 to March 2020, 32 eyes of 18 patients from 3 FVA families who were diagnosed and treated by PPV at Department of Ophthalmology of Jiaxing TCM Hospital were included in the study. Among them, there were 12 males with 22 eyes and 6 females with 10 eyes. The average age of onset was 42.28±3.25 years; the average duration of disease was 3.75±3.93 years. All the affected eyes underwent best corrected visual acuity (BCVA) and B-mode ultrasound examination. A logarithmic visual acuity chart was used in the BCVA examination, which was converted to the logarithmic minimum angle of resolution (logMAR) visual acuity when recorded. The average logMAR BCVA of the affected eye was 1.72±0.53; the intraocular pressure was less than 21 mm Hg (1 mm Hg=0.133 kPa). The vitreous body of the affected eye was obviously cloudy. All the affected eyes underwent standard three-channel PPV through the flat part of the ciliary body, and vitreous specimens were collected for pathological examination during the operation. Peripheral venous blood of probands from 3 families was collected, and the whole exome gene sequencing was performed. The follow-up time after surgery was ≥6 months. The patient's clinical characteristics, fundus lesions in PPV, changes in BCVA after surgery, and complications was observed. One-way analysis of variance or t test was performed for measurement data comparison; χ2 test was performed for count data comparison. Results:The vitreous body of the affected eye showed gray-white dense and thick flocculent changes, and the posterior capsule attached to the lens showed "foot disc-like" turbidity; later the lens was mainly cystic opacity. Pathological examination of the vitreous body showed positive staining of Congo red; under a polarized light microscope, it showed apple green dots and sheet-like birefringence. The genetic test results showed that there was a c.307G>C (p.Gly103Arg) missense mutation in the TTR gene of the proband in Family 2. Peripheral retinal hemorrhages in 4 eyes (12.5%, 4/32), retinal tears in 5 eyes (15.6%, 5/32), retinal degeneration in 4 eyes (12.5%, 4/32), retinal detachment were found in PPV 3 eyes (9.4%, 3/32). The vitreous body was filled with C 3F 8 and silicone oil respectively for 2, 1 eye. Six months after the operation, the logMAR BCVA of the affected eye was 0.39±0.32, which was significantly higher than that before the operation, and the difference was statistically significant ( t=15.131, P=0.000). After the operation, high intraocular pressure occurred in 2 eyes (6.3%, 2/32), secondary glaucoma in 1 eye (3.1%, 1/32), retinal detachment in 2 eyes (6.3%, 2/32), neovascular glaucoma (NVG) in 2 eyes (6.3%, 2/32), cataract in 10 eyes (31.3%, 10/32). Conclusion:The vitreous body of FVA eyes are gray-white dense, thick and flocculent, attached to the posterior lens capsule, showing "foot disc-like" turbidity; PPV treatment can effectively improve the BCVA of the FVA eyes; secondary glaucoma, secondary retinal detachment, NVG can occur after surgery.

Genome-wide expression profile analysis of Nicastrin gene-silenced HaCaT cells / 中华皮肤科杂志

Objective:To investigate changes of nicastrin (NCSTN) downstream molecules in signaling pathways related to cell proliferation and differentiation after silencing the expression of the NCSTN gene in the human immortalized keratinocyte cell line HaCaT.Methods:HaCaT cells were divided into 3 groups: interference group transfected with a specific small interfering RNA (siRNA) targeting NCSTN (NCSTN-siRNA) , negative control group transfected with a negative control siRNA, and blank control group transfected with the equal amount of transfection reagent. Real-time PCR and Western blot analysis were performed to measure the NCSTN mRNA and protein expression in groups, in order to verify the transfection efficiency. Differences in gene expression profiles in HaCaT cells were detected between the interference group and negative control group by using Agilent whole-genome microarray, and differentially expressed genes were identified based on a fold change ≥ 2.0 with a P value ≤ 0.05. Gene ontology (GO) enrichment analysis was employed to identify the roles of the differentially expressed genes, and then to screen out significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, some of which were verified by real-time PCR. Results:The interference group showed significantly decreased mRNA and protein expression of NCSTN (0.287 ± 0.090, 0.443 ± 0.085, respectively) compared with the negative control group (0.969 ± 0.127, 1.047 ± 0.114, respectively) and blank control group (1.000 ± 0.151, 1.000 ± 0.111, F = 30.787, 31.139, respectively, both P = 0.001) . Whole genome-expression analysis using an Agilent microarray platform revealed 605 downregulated genes and 444 upregulated genes in HaCaT cells in the interference group compared with the negative control group. GO analysis showed that differentially expressed genes were enriched into 4 biological processes, including epithelial development, epithelial cell differentiation, keratinocyte differentiation and keratinization. The significantly differentially expressed genes associated with proliferation and differentiation of keratinocytes, including the Sprouty-related protein with EVH1 domain 2, fibroblast growth factor 7, insulin-like growth factor-binding protein 5, Rho-associated coiled-coil kinase 2 and bone morphogenetic protein 6 genes, were verified by real-time PCR, and the verification results were consistent with the difference trend shown by the microarray results. Conclusion:The loss of NCSTN gene function may affect the normal proliferation and differentiation of keratinocytes by regulating the expression of its downstream molecules in signaling pathways associated with cell proliferation and differentiation.

Effect of NCSTN gene silencing on the proliferation and differentiation of HaCaT cells / 中华皮肤科杂志

Objective:To evaluate the proliferative activity of and changes in the expression of related differentiation proteins in a stably NCSTN gene-silenced human immortalized keratinocyte cell line HaCaT, and to preliminarily explore the possible mechanism underlying the occurrence of acne inversa.Methods:By lentivirus-mediated short hairpin RNA (shRNA) , a NCSTN gene-silenced HaCaT cell model was established (shRNA group) , and other HaCaT cells transfected with empty lentivirus served as a negative control group. Real-time quantitative PCR and Western blot analysis were performed to determine the NCSTN gene-silencing efficiency. Cell counting kit-8 (CCK8) assay was conducted to evaluate the proliferative activity of HaCaT cells, and real-time quantitative PCR and Western blot analysis were performed to determine the mRNA and protein expression of cytokeratins (CK1, CK5, CK7, CK10, CK14, CK16, CK17, CK18, CK19 and CK20) and other differentiation molecules (involucrin and loricrin) respectively in HaCaT cells. Two-independent-sample t test was used to compare the measurement data between two groups. Results:NCSTN mRNA and protein expression were significantly lower in the shRNA group (0.42 ± 0.19, 0.30 ± 0.07 respectively) than in the negative control group (1.00 ± 0.34, 1.00 ± 0.26; t = 5.196, 2.637, P < 0.001, < 0.05, respectively) , and the gene-silencing efficiency was 70%. Compared with the negative control group, the shRNA group showed higher cellular proliferative activity, but decreased protein expression of CK16, CK19 and terminal differentiation molecule involucrin ( t = 3.787, 3.817, 2.904, P < 0.01, < 0.05, < 0.05, respectively) . Conclusion:Stable silencing of NCSTN gene can lead to abnormal proliferation and differentiation of HaCaT cells, which provides new ideas for subsequent exploration of acne inversa caused by NCSTN gene mutation.

Analysis of related risk factors of vitreous hemorrhage after anti-vascular endothelial growth factor combined with vitrectomy for proliferative diabetic retinopathy / 中华眼底病杂志

Objective:To observe and analyze the risk factors related to vitreous re-hemorrhage (PVH) after anti-VEGF drugs combined with vitrectomy (PPV) in patients with proliferative diabetic retinopathy (PDR).Methods:Retrospective analysis study. From April 2017 to July 2018, 100 eyes of 87 PDR patients who were diagnosed in Jiaxing Eye Hospital and received anti-VEGF drugs combined with 25G PPV were included in the study. Among them, there were 44 eyes in 38 males and 56 eyes in 49 females. The age ranged from 26 to 83 years, with an average age of 57.72±8.82 years. All patients were type 2 diabetes, with an average duration of diabetes 10.84±6.03 years. All affected eyes were assisted by the same doctor with a non-contact wide-angle lens under the standard three-channel 25G PPV of the flat part of the ciliary body. Five to 7 days before the operation, intravitreal injection of ranibizumab or conbercept 0.05 ml (10 mg/ml) was performed. The incidence of PVH was observed. The age of PVH patients, duration of diabetes, vision before operation, average fasting blood glucose and average postprandial blood glucose before operation, systolic blood pressure and diastolic blood pressure before surgery, laser treatment before surgery, lens removal during operation, intraocular filling during operation, retinal laser points during operation, and fundus lesions during operation (hyperplasia film, Retinal hemorrhage, vascular occlusion, proliferative retinal traction, retinal hiatus, retinal detachment, exudation, neovascularization) were analyzed to find out the cause of PVH. Spearman bivariate correlation analysis and binary logistic regression analysis were performed on the data.Results:Of the 100 eyes of 87 patients, PVH occurred in 17 eyes (17%). There were statistically significant differences in the number of eyes with vascular occlusion and proliferative traction during surgery in patients with and without PVH ( χ2=5.741, 8.103; P<0.05). There was no significant difference in age ( t=-1.364), duration of diabetes ( t=0.538), preoperative vision ( t=1.897), preoperative fasting blood glucose level ( t=1.938), preoperative postprandial blood glucose level ( t=1.508), preoperative systolic blood pressure ( t=-0.571), preoperative diastolic blood pressure ( t=0.275), whether received laser treatment ( χ2=2.678), the number of laser points during operation ( t=0.565), whether received lens removal during operation ( χ2=0.331), whether found new blood vessels during operation ( χ2=2.741) and whether received intraocular filling during operation ( χ2=0.060) between the patients with and without PVH ( P>0.05). Spearman's bivariate correlation analysis showed that patients with low vision, poor control of fasting blood glucose levels, vascular occlusion and proliferative retinal traction during the operation were related risk factors for PVH ( rs=0.208, 0.229, 0.240, 0.285; P<0.05). Binary logistic regression analysis showed that fundus vascular occlusion and hyperplastic retinal traction may be independent risk factors for PVH during surgery ( OR=5.175, 13.915; P<0.05). Conclusion:Fundus vascular occlusion and retinal traction caused by fibrovascular membrane hyperplasia in PPV may be independent risk factors for PVH in patients with PDR after anti-VEGF drugs combined with PPV.

Design and application of a new gastrointestinal nutrition pipeline / 中华危重病急救医学

Gastrointestinal nutrition tube is a special gastrointestinal tube designed for enteral nutrition, diagnosis, treatment and monitoring in severe patients. Clinically, it is inserted into patients' stomach for flushing, provide nutrition through stomach, duodenum or jejunum, and decompress gastrointestinal tract. It also can be used for gastric drainage, gastric juice pH value determination, and early diagnosis and treatment for stomach bleeding and other symptoms. Currently, gastrointestinal nutrition tube can only rely on guidewire and blind manipulation, or by gastroscopy, which may produce damage to the patients, including stimulating the digestive tract mucous membrane, and causing adverse reaction. Therefore, a new type gastrointestinal nutrition line was designed by the medical staff of intensive care unit (ICU) of the First People's Hospital of Fuyang District in Hangzhou according to the technical problems existing in the insertion of gastrointestinal nutrition tube, and National Utility Model Patent of China was obtained (ZL 2019 2 0118506.0). It included V-shaped joint, first pipe, second pipe, function module, supply pipe, scale line, upper clasp, lower clasp, elliptical balloon, elastic guide wire and infusion opening. Compared with the existed technology, it has multiple channels, functions and placement methods. The utility model has a simple structure and reasonable design, which can be very handy to insert and provide nutrient solution.

Correlation between flat-panel CT high-density sign and hemorrhagic transformation in patients with anterior circulation ischemic stroke after endovascular treatment / 中华神经医学杂志

Objective:To explore the characteristics of high-density sign of flat-panel CT (FDCT) after endovascular treatment in patients with acute ischemic stroke (AIS) in the anterior circulation of large vessels and their relation with hemorrhagic transformation.Methods:Seventy-eight patients with AIS in the anterior circulation of large vessels accepted endovascular treatment in our hospital from March 2018 to June 2019 were chosen in our study. All patients underwent FDCT, and they were grouped according to the presence of local high-density sign and occurrence of hemorrhagic transformation. The baseline and clinical data of patients from high-density sign group and non-high-density sign group, and from hemorrhagic transformation group and non-hemorrhagic transformation group were compared and analyzed. The correlation between high-density sign and hemorrhagic transformation was analyzed. The morphological characteristics and distribution of FDCT high-density sign in patients from high-density sign group were analyzed, and univariate and multivariate Logistic regression analyses were used to screen the influencing factors for post-operative hemorrhagic transformation in patients from the high-density sign group.Results:(1) The incidence of high-density sign in these patients after endovascular treatment was 41.0% (32/78); as compared with patients in the non-high-density sign group, patients in the high-density sign group had significantly higher rate of hemorrhagic transformation (6.5% vs. 53.1%, P<0.05) and significantly higher 3-month modified Rankin scale (mRS) scores (2.0 [1.0, 3.0] vs. 3.9 [3.0, 5.3], P<0.05). (2) The incidence of hemorrhagic transformation after endovascular treatment was 25.6% (20/78); as compared with those in the non-hemorrhagic transformation group, patients in the hemorrhage transformation group had statistically higher incidence of high-density sign in FDCT (31% vs. 70%, P<0.05); multivariate Logistic regression analysis showed that FDCT high density sign was an independent risk factor for hemorrhage transformation after endovascular treatment ( OR=1.823, 95%CI: 1.125-2.358, P=0.000). (3) In the 32 patients with FDCT high-density sign, 4 (12.5%), 13 (40.6%) and 7 (21.9%) had high-density sign in the cortex and subcortex, basal ganglia, and subarachnoid space, whose hemorrhagic transformation incidences were 75% (3/4), 53.8% (7/13), and 57.1% (4/7), respectively, and mean 3-month mRS scores were 4.5, 3.0 and 4.0, respectively; another 8 patients (25%) had endovascular FDCT high-density sign, whose hemorrhagic transformation incidence was 87.5% (7/8), and 3-month mRS scores were ≥4. (4) Multivariate Logistic regression analysis showed that the vascular opening time ≤6 h was a protective factor for hemorrhage transformation in patients with FDCT high-density sign ( OR=0.687, 95%CI: 0.193-0.936, P=0.044). Conclusions:In patients with AIS in the anterior circulation of large vessels accepted endovascular treatment, FDCT high-density sign indicates high risk of hemorrhage transformation and poor prognosis, especially in patients having high-density sign in the cerebral cortex, subcortical area and intravascular area. Minimizing the vascular opening time may reduce the risk of hemorrhagic transformation in patients with FDCT high-density sign.

Research progress of fecal microbiota transplantation / 中国基层医药

Fecal microbiota transplantation(FMT) is a new treatment method for intestinal diseases, especially for recurrent Clostridium difficile infection(CDI), which is very effective.It can reconstruct the intestinal flora of patients and effectively correct the disorder of intestinal flora.In recent years, the clinical application of fecal transplantation has been more and more extensive.This paper reviews the development history, operation process, clinical application and adverse reactions of fecal transplantation.

Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review / 中华儿科杂志

Objective@#To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI).@*Methods@#The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who was admitted to the Department of Pediatrics in Peking Union Medical College Hospital in October 2016 were analyzed. Then literature review was done after searching articles in PubMed and several Chinese databases with the key words "spondyloenchondrodysplasia with immune dysregulation" up to the date of November 2017.@*Results@#A 12-year-old girl was admitted to local hospital for complaint of "recurrent fever over one month" in October 2016. She was diagnosed with type Ⅱ autoimmune hepatitis for abnormal liver function, elevated immunoglobulin G, positive anti-liver-kidney microsomal antibody and medium to severe interface hepatitis verified by liver biopsy. Systemic lupus erythematosus was also suspected based on positive antinuclear antibody and anti-dsDNA antibody, decreased complements, reduced white blood cells and hemoglobin. Methylprednisolone and azathioprine were started based on the diagnosis. However, she experienced mycoplasma pneumoniae and suspected fungal infections during the treatment. Detailed history revealed the history of developmental retardation since birth, and cerebral palsy diagnosed when she was 2 years old. She also underwent surgery at the age of eight for eversion of her right foot. Based on the abnormal findings of immune system, skeleton and nervous system, certain primary immunodeficiency disease was speculated. Gene sequencing was performed, which revealed compound heterozygous mutations in ACP5 gene (NM_001111035.2) (c.798dupC, p. S267Lfs*20, paternal; c.716G>A, p. G239D, maternal). With X-ray of the vertebrae showed multiple platyspondyly, the diagnosis was corrected as SPENCDI and type Ⅱ autoimmune hepatitis. Then she was treated with prednisone (60 mg/d) and mycophenolate mofetil (1.5 g/d). All symptoms resolved on 3-month follow-up, with normalized activity indexes of autoimmune hepatitis and systemic lupus erythematosus. A total of 25 articles (1 Chinese, 24 English) were reviewed, with 74 SPENCDI patients reported. The most common manifestations were skeletal abnormalities (74/74, 100%), autoimmune diseases (47/74, 63.5%), dwarfism (45/74, 60.8%), and nervous system symptoms (25/74, 33.8%). A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent.@*Conclusions@#Vertebral and metaphyseal dysplasia, nervous system symptoms, and strong predisposition to autoimmune diseases are the hallmarks of SPENCDI. SPENCDI should be considered in dwarf with or without autoimmune diseases or nervous system symptoms.

Feasible study of endovascular embolization for treating cerebral arteriovenous malformations via internal jugular vein approach / 中华放射学杂志

Objective To evaluate the feasibility of transvenous embolization treatment for cerebral arteriovenous malformations(bAVM). Methods From November 2016 to April 2017, the information of 6 patients with brain arteriovenous malformation in our center accepting the intravenous radical embolization were collected, who were ruptured bAVM, bAVM with a single drainage vein, not suitable for surgery confirmed by neurosurgeon consultation or explicitly refused craniotomy. The modified Rankin Scale score of five patients were smaller than three before treatment.The location of draining vein flowing venous sinus was shown by rotational DSA and 3D reconstructed images.A liquid embolic agent was injected via Sonic catheter to completely embolism the brain arteriovenous malformation under controlling blood pressure and blocking the blood provisionally.The perioperative complications and modified Rankin Scale score were observed and recorded 30 days after treatment. Results The transvenous embolization treatment was successfully performed in six patients with 7 embolization procedures.There were no definite operation-related complications. the mRS of all cases were ≤1 within 30 days after operation. Conclusion The embolization technique via the internal jugular vein is feasible for bAVM patients with a single drainage vein,while the long-term outcome need more evaluations.

Analysis of ADAR1 gene mutation in a pedigree affected with dyschromatosis symmetrical hereditaria / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation of adenosine deaminase acting on RNA1 (ADAR1) gene in a pedigree affected with dyschromatosis symmetrical hereditaria (DSH).</p><p><b>METHODS</b>Clinical data and peripheral blood samples of the patients from the pedigree were collected. Potential mutations of the ADAR1 gene were screened among 2 patients, 2 unaffected individual from the pedigree as well as 50 unrelated healthy controls by PCR amplification and direct sequencing.</p><p><b>RESULTS</b>A c.3463C>T (p.R1155W) missense mutation of the ADAR gene was identified in the 2 patients, which was absent in the 2 healthy relatives and 50 unrelated controls. The mutation has been previously identified among 5 Chinese families and was the most common mutation site.</p><p><b>CONCLUSION</b>The c.3463C>T missense mutation of the ADAR gene probably underlies the disease in this pedigree.</p>

Clinical evaluation of the anti-gingivitis efficacy of a novel stabilized stannous-containing sodium fluoride dentifrice / 实用口腔医学杂志

Objective: To evaluate the anti-gingivitis efficacy of a novel stabilized stannous-containing sodium fluoride dentifrice. Methods: A randomized, controlled and double blind clinical study was conducted. 156 adults with gingivitis were enrolled and randomly assigned to experimental group(group of novel stabilized stannous-containing sodium fluoride dentifrice, n = 51), positive control group (group of Yunnan Baiyao dentifrice, n = 54) and negative control group (group of Crest dentifrice, n = 51). Gingival health was assessed using Mazza Modification of the Papillary Bleeding Index(Mazza GI) at Baseline, day 3 and week 4 and pocket depth was evaluated at baseline and week 4, respectively. Results: At day 3 and week 4, the experimental and positive control groups exhibited lower clinical parameters than the negative control group(P＜ 0. 000 1). At week 4, the mean Mazza GI scores and PD of the experimental group were significantly lower than those of the positive control group(P＜ 0. 05). Conclusion: The novel stannous-containing sodium fluoride dentifrice has anti-gingivitis efficacy.

Improvement of inhibitors tolerance of Saccharomyces cerevisiae by overexpressing of long chain sphingoid kinases encoding gene LCB4 / 生物工程学报

By-products released from pretreatment process of lignocellulose seriously hinder the development of cellulosic fuel ethanol. Therefore, the great way to increase the efficiency of cellulosic ethanol production is improvement of Saccharomyces cerevisiae tolerance to these inhibitors. In this work, the effects of LCB4 gene overexpression on cell growth and ethanol fermentation in S. cerevisiae S288C under acetic acid, furfural and vanillin stresses were studied. Compared to the control strain S288C-HO, the recombinant strain S288C-LCB4 grew better on YPD solid medium containing 10 g/L acetic acid, 1.5 g/L furfural and 1 g/L vanillin. Ethanol yields of recombinant strain S288C-LCB4 were 0.85 g/(L·h), 0.76 g/(L·h) and 1.12 g/(L·h) when 10 g/L acetic acid, 3 g/L furfural and 2 g/L vanillin were supplemented into the fermentation medium respectively, which increased by 34.9%, 85.4% and 330.8% than the control strain S288C-HO. Meanwhile, ethanol fermentation time was reduced by 30 h and 44 h under furfural and vanillin stresses respectively. Further metabolites analysis in fermentation broth showed that the recombinant strain produced more protective compounds, such as glycerol, trehalose and succinic acid, than the control strain, which could be the reason for enhancing strain tolerance to these inhibitors from pretreatment process of lignocellulose. The results indicated that overexpression of LCB4 gene could significantly improve ethanol fermentation in S. cerevisiae S288C under acetic acid, furfural and vanillin stresses.

Construction of a Nicastrin gene-silenced human immortalized keratinocyte cell model by lentivirus-mediated short hairpin RNA / 中华皮肤科杂志

Objective To construct a lentiviral vector delivering the Nicastrin (NCT) gene-targeted short hairpin RNA (shRNA) and determine gene-silencing efficiency of the vector in the human immortalized keratinocyte cell line HaCaT,and to construct a NCT gene-silenced HaCaT cell model to lay an experimental foundation for subsequently studying effects of NCT gene silencing on biological behavior of keratinocytes.Methods Three NCT gene-targeted shRNAs were designed and inserted into the pGLV3/ H1/GFP + Puro vector to construct three recombinant plasmids,which were then confirmed by sequencing.Recombinant plasmids combined with lentivirus packaging plasmids were co-transfected into 293T cells to obtain lentivirus particles,and the virus titer was determined.Cultured HaCaT cells were divided into 3 groups:blank group receiving no treatment,negative control group infected with the empty vector LV3-shNC,interference groups infected with lentivirus NCT-shRNA1,-shRNA2,-shRNA3,respectively.Flow cytometry was performed to determine transfection efficiency,and real-time fluorescence-based quantitative PCR (qRT-PCR) and Western blot analysis were conducted to determine efficiency of target gene silencing in HaCaT cells,so as to select the most efficient interference sequence.Results Sequencing analysis indicated that recombinant lentiviral vector NCT-shRNA was constructed successfully.After co-transfection of recombinant plasmids and lentivirus packaging plasmids into 293T cells,the titer of recombinant lentivirus particles was about 109 TU/ml.Flow cytometry showed that the transfection efficiency was greater than 95％.qRT-PCR revealed that the NCT mRNA expression was obviously down-regulated in the interference group compared with the negative control group,and NCT-shRNA1 was the most efficient sequence with interference efficiency being 75％.Western blot analysis showed that the inhibition rate of NCT protein expression was 71.7％ in the shRNA1 group compared with the negative control group.Conclusion The most efficient NCT-shRNA interference sequence is screened out,and the recombinant lentiviral vector NCT-shRNA and an NCT gene-silenced HaCaT cell model are both constructed successfully.