1.Expert Consensus of Multidisciplinary Diagnosis and Treatment for Paroxysmal Nocturnal Hemoglobinuria(2024)
Miao CHEN ; Chen YANG ; Ziwei LIU ; Wei CAO ; Bo ZHANG ; Xin LIU ; Jingnan LI ; Wei LIU ; Jie PAN ; Jian WANG ; Yuehong ZHENG ; Yuexin CHEN ; Fangda LI ; Shunda DU ; Cong NING ; Limeng CHEN ; Cai YUE ; Jun NI ; Min PENG ; Xiaoxiao GUO ; Tao WANG ; Hongjun LI ; Rongrong LI ; Tong WU ; Bing HAN ; Shuyang ZHANG ; MULTIDISCIPLINE COLLABORATION GROUP ON RARE DISEASE AT PEKING UNION MEDICAL COLLEGE HOSPITAL
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1011-1028
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disease caused by abnormal expression of glycosylphosphatidylinositol (GPI) on the cell membrane due to mutations in the phosphatidylinositol glycan class A(PIGA) gene. It is commonly characterized by intravascular hemolysis, repeated thrombosis, and bone marrow failure, as well as multiple systemic involvement symptoms such as renal dysfunction, pulmonary hypertension, swallowing difficulties, chest pain, abdominal pain, and erectile dysfunction. Due to the rarity of PNH and its strong heterogeneity in clinical manifestations, multidisciplinary collaboration is often required for diagnosis and treatment. Peking Union Medical College Hospital, relying on the rare disease diagnosis and treatment platform, has invited multidisciplinary clinical experts to form a unified opinion on the diagnosis and treatment of PNH, and formulated the
2.Study on the Effect of Baitouweng Decoction on VVC Mice by Regulating PI3K/AKT-HIF-1α Pathway
Songxia LU ; Qiangjun DUAN ; Ruilin WANG ; Xi GUO ; Min GAO ; Rongrong HUANG
Journal of Nanjing University of Traditional Chinese Medicine 2024;40(8):804-811
OBJECTIVE To explore the mechanism Baitouweng Decoction on mice with vulvovaginal candidiasis(VVC)based on phosphoinositide 3-kinase(PI3K)/protein kinase B(AKT)-hypoxia-inducible factor-1α(HIF-1α)pathway.METHODS Female SPF-grade Kunming mice were injected subcutaneously with estradiol benzoate and vaginally inoculated with Candida albicans suspension to establish a VVC mouse model.The mice with successful modeling were randomly divided into model group,high-,me-dium-,and low-dose Baitouweng Decoction groups(23.4,11.7,and 5.85 g·kg-1),and fluconazole group(0.02 g·kg-1),with 20 mice in each group.Another 20 mice were injected with estradiol benzoate as control group.Treatment started the day after success-ful model establishment and continued for 14 days.Two hours after the last administration,the number of neutrophils in vaginal lavage fluid was examined with Papanicolaou stain.The HE staining method was used to observe the morphology of vaginal tissue.ELISA was used to measure the levels of nicotinamide adenine dinucleo-tide phosphate oxidase 2(NOX2),reactive oxygen species(ROS),su-peroxide dismutase(SOD),malondialdehyde(MDA)in the vaginal tissues.The mRNA expression levels of PI3K,AKT and HIF-1α were detected using qPCR.Western blot was employed to evaluate the protein expression of p-PI3K,PI3K,p-AKT,AKT,and HIF-1α in vaginal tissue.RESULTS Compared to the control group,the model group exhibited a significant increase in neutrophils in va-ginal lavage fluid(P<0.001);the vaginal mucosal layer was severely desquamated and a large number of inflammatory cells infiltrated.Additionally,there was an elevation in NOX2,ROS,and MDA levels in vaginal tissue(P<0.001),while SOD content decreased(P<0.001).Furthermore,the mRNA expression of PI3K,AKT and HIF-1α was reduced along with decreased protein ex-pression of p-PI3K/PI3K,p-AKT/AKT,and HIF-1α(P<0.001).In comparison to the model group,both high-dose and medi-um-dose groups treated with Baitouweng Decoction demonstrated a significant decrease in neutrophil count in lavage fluid(P<0.01,P<0.001);the condition of the vaginal mucosa improved to varying degrees.Moreover,the levels of ROS and MDA in vaginal tissue were reduced(P<0.05,P<0.01,P<0.001),the activity of NOX2 was decreased(P<0.01,P<0.001),and the activity of SOD was increased(P<0.01,P<0.001).The high-dose group showed that,the mRNA expression of PI3K,AKT,and HIF-1α in vaginal tissue was increased(P<0.001),the ratios of p-PI3K/PI3K and p-AKT/AKT,and the protein expression of HIF-1α were increased(P<0.001).CONCLUSION Baitouweng Decoction has a therapeutic effect on VVC,and its mechanism of action may be related to the PI3K/AKT-HIF-1α signal pathway.
3.Design and Application of an Artificial Intelligence Follow-up System for Gestational Hypertension
Xinyi HUANG ; Xiaoping ZHOU ; Jianjun GUO ; Rongrong SHENG ; Zhongmin WANG ; Jue WANG ; Nana YANG ; Yin YIN
Journal of Medical Informatics 2024;45(1):89-92
Purpose/Significance Gestational hypertension poses a serious threat to maternal health.Artificial intelligence(AI)fol-low-up and management systems contributes to the health of gestational hypertension.Method/Process The paper establishes an AI fol-low-up system for gestational hypertension based on big data technology and data platforms,including modules such as patient informa-tion management,follow-up data management,follow-up plan management,and patient course management.Result/Conclusion The follow-up system can assist doctors in understanding changes in patients'diseases and meet the hospital's follow-up management re-quirements for gestational hypertension in outpatient clinics.
4.Clinically diagnostic value of ultrasound elastography combined with serum miR-26b-5p and COX-2 examination for early hysteromyoma
Xiaobo GUO ; Jinyu CHEN ; Rongrong TAN
China Medical Equipment 2024;21(3):82-86
Objective:To investigate the diagnostic value of ultrasound elastography combined with serum microRNA-26b-5p(miR-26b-5p)and cyclooxygenase-2(COX-2)detection for early hysteromyoma.Methods:A total of 228 patients with suspected early hysteromyoma who were diagnosed in the 90th Hospital of the Joint Service Support Center from October 2020 to September 2022 were selected as the observation objects.Based on the results of pathological section examination as the"gold standard",all subjects were divided into a positive group(124 cases)and a negative group(104 cases),and ultrasound elasticity imaging examination was performed in both groups.The expression level of miR-26b-5p in serum was detected by real-time fluorescent quantitative polymerase chain reaction(Rt-PCR),and the level of serum COX-2 was detected by enzyme-linked immunosorbent assay(ELISA),and receiver operating characteristic(ROC)curve was applied to analyze the diagnostic values of serum miR-26b-5p and COX-2 for hysteromyoma.The four tables were applied to analyze the diagnostic values of ultrasound elastography and the combination of ultrasound elastography,serum miR-26b-5p and COX-2 for hysteromyoma.Results:The results of pathological examination indicated that 124 cases of 228 patients were positive result of hysteromyoma and 104 cases were negative result.The results of ultrasound elastography showed that 117 cases were positive,and 111 cases were negative,and the diagnostic sensitivity,specificity and accuracy of ultrasound elastography detection were respectively 74.19%,75.96%and 75.00%.Serum miR-26b-5p level of positive group was significantly lower than that of negative group,while the COX-2 level of positive group was significantly higher than that of negative group,and the differences of them between the two groups were statistically significant(t=4.519,5.601,P<0.05),respectively.The area under curve(AUC)value of ROC curve,sensitivity,specificity and the best cut-off value of serum miR-26b-5p were respectively 0.749,95.97%,46.15%and 1.10 in diagnosing hysteromyoma.The above indicators of serum COX-2 were respectively 0.835,66.13%,84.62%and 40.58 mg/L in diagnosing hysteromyoma.The sensitivity,specificity and accuracy of ultrasound elastography combined with serum miR-26b-5p and COX-2 were respectively 93.55%,86.54%and 90.35%,the differences were statistically significant(x2=23.158,17.169,P<0.05),respectively.Conclusion:Ultrasound elastography combined with serum miR-26b-5p and COX-2 has higher effectiveness in diagnosing the early hysteromyoma.
5.Impact of hyperoxia on the phenotype of pulmonary artery smooth muscle cells
Shanshan QU ; Yulan LI ; Rongrong HUANG ; Hong GUO ; Xiumei WANG ; Junmei ZHANG ; Chuanqi YANG
Chinese Journal of Cardiology 2024;52(2):185-190
Objective:To investigate the influence of varied oxygen (O 2) concentration environments on the phenotypic transformation of pulmonary artery smooth muscle cells (PASMC) and the mechanism of pulmonary hypertension. Methods:Primary rat PASMC were isolated and cultured through the process of enzymatic digestion. Following identification, the stable passaged PASMC were subjected to a 6-hour incubation in sealed containers with normal O 2 content (group C) and relative O 2 content comprising 55% (group H55), 75% (group H75), and 95% (group H95). mRNA and protein expression of α-Actin (α-SMA), smooth muscle 22α (SM22α), osteopontin (OPN), and matrix metalloproteinase-2 (MMP-2) were measured using real-time quantitative PCR and western blot analysis. Results:The H55 group displayed no significant difference from the C group in terms of mRNA and relative protein expression levels for α-SMA, SM22α, OPN, and MMP-2 (all P>0.05). On the other hand, groups H75 and H95 exhibited a reduction in mRNA and relative protein expression of α-SMA and SM22α, along with an increase in mRNA and relative protein expression of OPN and MMP-2 when compared with both the C and H55 groups (all P<0.05). The H95 group showed a higher relative mRNA expression of MMP-2 as compared to the H75 group ( P<0.05). Conclusions:Oxygen concentration environments of 75% or higher can serve as the foundation for the pathogenesis of pulmonary hypertension, essentially by inducing a phenotypic transformation in PASMC towards adopting a robust secretory function. This induction is contingent upon the concentration of oxygen present.
6.Diffusion tensor imaging study on the relationship between white matter and cognitive function in children and adolescents with first-episode schizophrenia
Rongrong SHAO ; Yinghui LIANG ; Yanhong XIA ; Sa XIAO ; Yadi LI ; Suqin GUO
Chinese Journal of Behavioral Medicine and Brain Science 2024;33(7):597-602
Objective:To explore the relationship between white matter integrity and cognitive function in first-episode children and adolescents with schizophrenia by diffusion tensor imaging (DTI).Methods:Totally 84 children and adolescents with first-episode schizophrenia who were hospitalized in the Department of Child and Adolescent Psychiatry at the Second Affiliated Hospital of Xinxiang Medical University from September 2017 to June 2021 were selected as the study group, and 35 healthy children and adolescents matched with the study group were selected as the control group. Positive and negative symptom scale (PANSS) was used to assess the patient's mental symptoms. Diffusion tensor imaging (DTI) scans were performed, and the structural integrity of white matter fibers in the brain was measured by tract-based spatial statistics (TBSS), with the indicators including fractional anisotropy (FA). The Chinese version of measurement and treatment research to improve cognition in schizophrenia consensus cognitive battery (MCCB) and the Stroop color-word test were used to evaluate the cognitive function of all subjects. SPSS 26.0 software was used to analyse the data by analysis of variance, independent sample t-test, Mann Whitney U-test and Pearson correlation analysis. Results:(1)The FA values of the right superior longitudinal tract (MNI: x=49, y=-40, z=31) and the left corticospinal tract (MNI: x=-27, y=-22, z=-19) in the study group were higher than those in the control group(both P<0.05). The FA values of the bilateral cingulate gyrus (MNI: x=-7, y=25, z=14; x=20, y=-50, z=25) and the occipital part of the corpus callosum radiation line (MNI: x=-19, y=-50, z=21) in the study group were lower than those in the control group(both P<0.05).(2)The trail making test score of the study group was higher than that of the control group( t=4.344, P<0.01), and the scores of the symbol coding, Hopkins verbal learning test-revised( HVLT-R), brief visuospatial memory test-revised(BVMT-R), word fluency test, number span, maze, Stroop word, Stroop color and Stroop color words were lower than those in the control group( t=-13.041--3.204, all P<0.05). (3) The FA value of right cingulate gyrus (hippocampus) was negatively correlated with the number span ( r=-0.269, P=0.023).The FA value in occipital part of the corpus callosum radiation line was positively correlated with the symbol code ( r=0.237, P=0.047).The FA value of the left lower longitudinal bundle was negatively correlated with the Stroop color and maze ( r=-0.289, -0.275; P=0.010, 0.020).The FA value of the right inferior longitudinal fasciculus was negatively correlated with the score of maze ( r=-0.254, P=0.032). The FA value of occipital part of the corpus callosum radiation line was positively correlated with positive symptom score ( r=0.170, P=0.040). Conclusion:Cognitive dysfunction in children and adolescent with first-episode schizophrenia may be related to abnormal white matter integrity in the brain.
7.Genomic and Transcriptomic Characterization Revealed the High Sensitivity of Targeted Therapy and Immunotherapy in a Subset of Endometrial Stromal Sarcoma
Nan KANG ; Yinli ZHANG ; Shichao GUO ; Ran CHEN ; Fangzhou KONG ; Shuchun WANG ; Mingming YUAN ; Rongrong CHEN ; Danhua SHEN ; Jianliu WANG
Cancer Research and Treatment 2023;55(3):978-991
Purpose:
The unique chromosomal rearrangements of endometrial stromal sarcoma (ESS) make it possible to distinguish high-grade ESS (HGESS) and low-grade ESS (LGESS) from the molecular perspective. Analysis of ESS at the genomic and transcriptomic levels can help us achieve accurate diagnosis of ESS and provide potential therapy options for ESS patients.
Materials and Methods:
A total of 36 ESS patients who conducted DNA- and/or RNA-based next-generation sequencing were retrospectively enrolled in this study. The molecular characteristics of ESS at genomic and transcriptomic levels, including mutational spectrum, fusion profiles, gene expression and pathway enrichment analysis and features about immune microenvironment were comprehensively explored.
Results:
TP53 and DNMT3A mutations were the most frequent mutations. The classical fusions frequently found in HGESS (ZC3H7B-BCOR and NUTM2B-YWHAE) and LGESS (JAZF1-SUZ12) were detected in our cohort. CCND1 was significantly up-regulated in HGESS, while the expression of GPER1 and PGR encoding estrogen receptor (ER) and progesterone receptor (PR) did not differ significantly between HGESS and LGESS. Actionable mutations enriched in homologous recombination repair, cell cycle, and phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathways were detected in 60% of HGESS patients. Genes with up-regulated expression in HGESS were significantly enriched in five immune-related pathways. Most HGESS patients (85.7%) had positive predictors of immunotherapy efficacy. Moreover, immune microenvironment analysis showed that HGESS had relatively high immune infiltration. The degree of immune infiltration in HGESS patients with ZC3H7B-BCOR fusion was relatively higher than that of those with NUTM2B-YWHAE fusion.
Conclusion
This study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy.
8.Scutellaria baicalensis: a promising natural source of antiviral compounds for the treatment of viral diseases.
Qiuju HUANG ; Muyang WANG ; Min WANG ; Yuhui LU ; Xiaohua WANG ; Xin CHEN ; Xin YANG ; Hongwei GUO ; Rongrong HE ; Zhuo LUO
Chinese Journal of Natural Medicines (English Ed.) 2023;21(8):563-575
Viruses, the smallest microorganisms, continue to present an escalating threat to human health, being the leading cause of mortality worldwide. Over the decades, although significant progress has been made in the development of therapies and vaccines against viral diseases, the need for effective antiviral interventions remains urgent. This urgency stems from the lack of effective vaccines, the severe side effects associated with current drugs, and the emergence of drug-resistant viral strains. Natural plants, particularly traditionally-used herbs, are often considered an excellent source of medicinal drugs with potent antiviral efficacy, as well as a substantial safety profile. Scutellaria baicalensis, a traditional Chinese medicine, has garnered considerable attention due to its extensive investigation across diverse therapeutic areas and its demonstrated efficacy in both preclinical and clinical trials. In this review, we mainly focused on the potential antiviral activities of ingredients in Scutellaria baicalensis, shedding light on their underlying mechanisms of action and therapeutic applications in the treatment of viral infections.
Humans
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Antiviral Agents/therapeutic use*
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Scutellaria baicalensis
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Virus Diseases/drug therapy*
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Medicine, Chinese Traditional
9.The establishment and validation of the Chinese version of SARC-F scale for sarcopenia screening among elderly population: a multicenter study
Jiayu GUO ; Kang YU ; Chunwei LI ; Yuanyuan BAO ; Yu ZHANG ; Fang WANG ; Rongrong LI ; Haiyan XIE
Chinese Journal of Clinical Nutrition 2023;31(2):74-81
Objective:To establish the Chinese version of (strength, assistance with walking, rise from a chair, climb stairs and falls, SARC-F) scale using the standardized methods and to validate the reliability and validity for sarcopenia screening among elderly population.Methods:Following the recommended procedure by World Health Organization and European Union Geriatric Medicine Society Sarcopenia Special Interest Group, the translation process included forward translation, expert panel, back-translation, pre-testing and cognitive interviewing to generate the final version. In the pilot study, the test-retest reliability, inter-rater reliability, and internal consistency of the Chinese version of SARC-F scale were assessed. In the diagnostic test for clinical validation, the participants were consecutively recruited from communities and hospitals in Beijing and Tianjin between December 2021 and October 2022. The scale administration, anthropometry, and body composition measurement were conducted by trained investigators. Participants with the SARC-F score ≥ 4 were considered at risk of sarcopenia. Diagnostic tests and receiver operating characteristic curve analysis were performed against the definitions of sarcopenia according to European Working Group on Sarcopenia in Older People (EWGSOP2) and Asian Working Group for Sarcopenia (AWGS2019), and the sensitivity, specificity, positive predictive value, negative predictive value and the area under curve were displayed.Results:The Chinese version of SARC-F scale was approved by the author that the translation has expressed the original meaning correctly. The Chinese version of SARC-F had good test-retest reliability (ICC = 0.914), inter-rater reliability ( r = 0.726), and internal consistency ( α = 0.729). There were altogether 1 882 participants included in the clinical validation. According to the diagnostic criteria of EWGSOP2 and AWGS2019, the Chinese version of SARC-F scale had low sensitivity (13.6% and 16.0%) and positive predictive value (44.6% and 35.4%), high specificity (95.1% and 94.7%) and negative predictive value (79.0% and 86.2%), and moderate AUC of 0.619 and 0.616 (all P < 0.001) for sarcopenia screening. Conclusions:The Chinese version of SARC-F scale was of good reliability and validity. The application of SARC-F in the primary healthcare settings would contribute to the early diagnosis of sarcopenia.
10.Berberine activates SIRT1 /AMPK signaling pathway to improve mesangial cell proliferation and autophagy function induced by high glucose
Lin Yang ; Rongrong Wang ; Xiaoyu Guo ; Liqin Tang ; Wei Wei
Acta Universitatis Medicinalis Anhui 2023;58(6):896-901
Objective:
To investigate the effect of berberine (BBR) on the proliferation and autophagy of mesangial cells in high glucose (HG) environment and the specific molecular mechanism.
Methods:
Mesangium cells at exponential growth stage were divided into the following groups : normal group,high glucose group,high glucose + BBR treatment group (30,60 and 90 μmol / L) ,high glucose + BBR (90 μmol / L) + AMPK inhibitor Compound C group ( CC group) ; the number of mesangial cells was calculated by high content cell imager.The expressions of type Ⅳ collagen ( Col-Ⅳ) ,fibronectin (FN) and microtubule-associated protein 1 light chain 3B (LC3B) in mesangial cells were detected by immunofluorescence assay.The protein expression levels of LC3B,Beclin-1, p62,Col-Ⅳ , FN and silencing regulatory factor 1 (SIRT1) / adenylate activated protein kinase (AMPK) signaling pathway were detected by Western blot.
Results:
Compared with the normal group ,high content cell imaging showed abnormal proliferation of mesangial cells in the hyperglycemic group.The results of immunofluorescence and Western blot showed that the expression levels of Col-Ⅳ and FN deposited in mesangial extracellular matrix increased in the high glucose group.The results of Western blot showed that the protein expressions of SIRT1,p- AMPK,LC3B and Beclin-1 decreased,while the protein expressions of p-p65 and p62 increased.BBR inhibited the abnormal proliferation of mesangial cells induced by high glucose.BBR could reduce the expression levels of Col-Ⅳ and FN deposited in mesangial extracellular matrix. BBR could increase the expressions of SIRT1 ,p- AMPK,LC3B and Beclin-1 proteins in mesangial cells,while decrease the expressions of p-p65 and p62 proteins. CC group weakened the inhibition of mesangial cell proliferation and autophagy by high dose BBR.
Conclusion
Berberine can effectively inhibit the proliferation of mesangial cells induced by high glucose and increase the level of autophagy,which may be related to SIRT1 / AMPK signaling pathway.


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