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1.
Acta Anatomica Sinica ; (6): 67-72, 2024.
Article in Chinese | WPRIM | ID: wpr-1015149

ABSTRACT

Objective To explore the effect and mechanism of Chir99021 on osteogenic differentiation of rat dental pulp stem cells. Methods Primary rat dental pulp stem cells were isolated from rat dental pulp and verified by fluorescence immunoassay. Different concentrations of Chir99021 were set, and the cell proliferation was detected by CCK⁃8 to select the optimal concentration. Osteogenic differentiation was detected by alizarin red staining. The expression of osteogenic differentiation related genes and proteins recombinant wingless type MMTV integration site famity member 1 (Wnt1), Wnt3a and Wnt3a β⁃expression of catenin, axis inhibition protein 2(Axin 2), dentin sialophosphoprotein(OCN) and dentin matrix acidic phosphoprotein 1(DMP1) was detected by Real⁃time PCR and Western blotting. Results The positive expression of dentin sialophosphoprotein (DSPP) and vimentin indicated that rat dental pulp stem cells were successfully isolated. After osteogenic induction of rat dental pulp stem cells, calcium deposits significantly increased with the addition of glycogen synthase kinase⁃3β(GSK⁃3β) inhibitor Chir99021, calcium deposits were significanted reduced. After osteogenic differentiation of rat dental pulp stem cells, the expression of Wnt1, Wnt3a, β⁃catenin, Axin2, OCN and DMP1 increased, while the expression of Wnt1, Axin2, OCN and DMP1 decreased with the addition of Chir99021. Conclusion Chir99021 can inhibit the osteogenic differentiation of rat dental pulp stem cells after 7 days of induction.

2.
Acta Anatomica Sinica ; (6): 105-112, 2024.
Article in Chinese | WPRIM | ID: wpr-1015145

ABSTRACT

Objective To study the microscopic structure and morphological characteristics of Zebrafish eyeball and retina at different developmental stages, and to lay a foundation for visual research model. Methods Select eight groups of zebrafish at different ages, with six fish in each group, 48 fish in total. Optical microscopy and transmission electron microscopy were used to observe the eyeball structure of Zebrafish at different developmental stages, and the thickness of retinal each layer was measured to analyze the temporal and spatial development pattern. The morphological characteristics of various cells in the retina and the way of nerve connection were observed from the microscopic and ultrastructural aspects, especially the structural differences between rod cells and cone cells. Results The retina of Zebrafish can be divided into ten layers including retinal pigment epithelial layer, rod cells and cone cells layer, outer limiting membrane, outer nuclear layer, outer plexiform layer, inner nuclear layer, inner plexiform layer, ganglion cell layer, nerve fiber layer, inner limiting membrane. Rod cells had a smaller nucleus and a higher electron density than cone cells. Photoreceptor terminals were neatly arranged in the outer plexiform layer, forming neural connections with horizontal cells and bipolar cells, and several synaptic ribbons are clearly visible within them. In Zebrafish retina, ganglion cell layer and inner plexiform layer are the earliest developed. With the growth and development of Zebrafish, the thickness of rod cells and cone cells layer and retinal pigment epithelial layer gradually increases, and the retinal structure was basically developed in about 10 weeks. Conclusion The retinal structure of Zebrafish is typical, with obvious stratification and highly differentiated nerve cells. There are abundant neural connections in the outer plexiform layer. The ocular development characteristics of Zebrafish are similar to those of most mammals.

3.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 949-957, 2023.
Article in Chinese | WPRIM | ID: wpr-998986

ABSTRACT

ObjectiveTo identify acute phase features associated with the prognosis of traumatic brain injury (TBI). MethodsThrough two traditional strategies, correlation analysis and prediction model, and one innovative research strategy based on feature deconstruction, a retrospective analysis was conducted using demographic, acute phase and chronic phase features of 354 TBI patients to identify acute phase features associated with activities of daily living (ADL) in chronic phase of TBI. For feature deconstruction strategy, the LASSO (Least Absolute Shrinkage and Selection Operator) algorithm was used to build a prediction model that could effectively predict ADL based on non-ADL chronic phase features. The model could indicate the key chronic phase dimensions determining the ADL in TBI patients. We then identified demographic and acute phase variables that were significantly associated with these key chronic phase features. ResultsThe feature deconstruction strategy revealed that ADL could be deconstructed into chronic phase dimensions such as weak limbs in TBI population. Importantly, to the best of our knowledge, this strategy revealed for the first time the association of these important acute phase features with specific chronic phase impairment features. For example, TBI patients had a higher risk for chronic phase recent memory impairment if they had a prolonged coma time and low GCS scores at acute phase [scaled coma time OR95%CI = 94.288 (35.095, 273.231); scaled GCS OR95%CI = 0.068 (0.030, 0.147)]; the patients had a higher risk for insight impairment and disorientation at chronic phase if they had hydrocephalus at acute phase [insight impairment OR95%CI = 6.760 (3.653,12.855) ; disorientation OR95%CI = 6.538 (3.530, 12.490)]. All strategies showed that the strongest risk factors for ADL damage in the chronic phase included prolonged coma time and low GCS scores as well as hydrocephalus. ConclusionThis study provides an innovative research strategy to establish the association between acute injury features and chronic recovery features, and to identify demographic and acute phase features associated with the prognosis of TBI.

4.
Journal of Environmental and Occupational Medicine ; (12): 1319-1326, 2023.
Article in Chinese | WPRIM | ID: wpr-998758

ABSTRACT

Drought is expected to be more severe and frequent due to climate change. Drought exerts not only extensive impacts on economy and environment, but also direct or indirect impacts on human health. This review systematically collected studies exploring the association between drought and human mortality, and summarized the associations between drought and all-cause mortality, chronic non-communicable disease mortality, communicable disease mortality, and injury mortality. The results revealed that drought was significantly associated with human mortality, leading to an elevated mortality risk of cardiovascular diseases, respiratory diseases, cancers, diarrhea, and injuries; serious drought increased much more mortality risk than mild drought; males in rural areas, the elderly, and children were vulnerable populations to drought. However, in-depth studies on the association of drought with human mortality are limited, which calls for related studies in the future. This review summarized the current research status and existing problems in drought and population death, and pointed out the future research direction, which can provide reference for future related research.

5.
International Eye Science ; (12): 1134-1138, 2023.
Article in Chinese | WPRIM | ID: wpr-976483

ABSTRACT

Pseudoexfoliative glaucoma(PEXG)is an eye disease that seriously endangers vision. It is more invasive than primary open-angle glaucoma(POAG), with more serious damage to the optic nerve, worse prognosis and higher resistance to treatment. Early diagnosis of PEXG can help to treat the disease in time and delay the progress of the disease, so it is important to determine appropriate biomarkers. In recent years, more and more people have begun to study the biomarkers of PEXG, hoping to understand the pathogenesis of the disease, find out the potential early diagnosis and treatment targets of PEXG, and provide some help to the disease through the research of genomics, transcriptomics, proteomics, metabolomics and lipomics markers. This article will review the progress of biomarkers of PEXG in recent years, some biomarkers may provide new ideas for early diagnosis of PEXG in the future.

6.
Chinese Journal of School Health ; (12): 859-863, 2023.
Article in Chinese | WPRIM | ID: wpr-976449

ABSTRACT

Objective@#To understand the status and associated factors of knowledge, attitude and practice (KAP) about myopia prevention and control among young children s parents in Guangzhou, so as to provide reference for family health education on myopia prevention and control.@*Methods@#During January to February 2023, 4 584 parents of children from kindergarten and primary school (grade 1-3) were recruited. Two to three kindergartens and 2 primary schools were selected from each of the 3 urban districts and 2 suburb districts of Guangzhou by stratified cluster random sampling method. Parents of children were administered with online questionnaire survey on KAP about myopia prevention and control. Descriptive analyses and multivariate Logistic regression models were used.@*Results@#The proportion of parents reaching standard of KAP about myopia prevention and control was 61.54%, the knowledge awareness rate was 57.30%, the positive attitude holding rate was 76.98% and the health practice formation rate was 63.31 %. Internet (70.35%) and lectures on school health education/health education materials (66.14%) were the most common ways for obtaining knowledge for parents. Multivariate Logistic regression analysis showed that urban area, higher education ( college /undergraduate or above), annual household income 50 000-90 000, 100 000-290 000, 300 000-490 000, 500 000- 590 000 , and ≥600 000 Yuan, being aware of vision status (normal/poor) of their children, one or both parents with myopia, both parents with non myopia, acquiring knowledge by multi ways(2, 3, ≥4) were associated with higher KAP about myopia prev ention and control ( OR =1.23, 1.34, 1.36, 1.25,1.49, 1.93, 2.34, 1.64, 1.66, 1.89, 3.48, 3.09, 2.42, 1.65, 2.29, 3.22, P < 0.05).@*Conclusion@#Knowledge and practice about myopia prevention and control among young children s parents in Guangzhou are insufficient, yet the attitude was satisfactory. It is necessary to carry out targeted education for parents, especially those living in suburb area, with low education and income level.

7.
Chinese Journal of Hospital Administration ; (12): 72-77, 2023.
Article in Chinese | WPRIM | ID: wpr-996038

ABSTRACT

Objective:To investigate the current situation of medical social worker supervision in Shanghai, for reference to promote the high-quality development of medical social work.Methods:From June to July 2022, a questionnaire survey was conducted on the in-service medical social workers in all medical institutions with medical social work departments or posts in Shanghai. The questionnaire mainly included demographic information, current status of supervision implementation, and effectiveness of supervision. The data were analyzed descriptively with t test for comparison between groups and the Pearson test was for correlation analysis. Results:A total of 99 medical social workers were included in this study, 65 had received supervision, and medical institutions where 58 people located had established the supervision system. The average scores of actual and expected supervisory support received by medical social workers were 3.71 and 4.20 respectively, and the mean burnout level score was 32.91. The effect of establishing a supervision institutions on burnout was statistically significant ( P<0.05) and actual access to supervision support was negatively associated with burnout ( P<0.05). Conclusions:The overall situation of medical social work supervision in Shanghai was positive, but the demand for supervision was not fully satisfied; Supervision had a positive impact on reducing the burnout level. It is suggested that medical social work should further strengthen the cultivation of supervisory talents, promote the construction of supervisory systems, and improve the quality of supervision.

8.
International Journal of Traditional Chinese Medicine ; (6): 633-637, 2023.
Article in Chinese | WPRIM | ID: wpr-989681

ABSTRACT

Objective:To analyze the medication law of external application of TCM in the treatment of psoriasis vulgaris (PV) by using data mining method.Methods:Clinical controlled trial literature about external application of TCM in the treatment of PV was retrieved from CNKI, VIP, WanFang, SinoMed, PubMed and Cochrane Library from the establishment of the databases to May 23, 2022. Prescriptions were extracted after screening. TCM inheritance computing platform V3.0 was used to analyze the property, taste, meridian, efficacy, use frequency, common medicinal pairs and the core combinations.Results:A total 186 prescriptions were included, involving 190 kinds of Chinese materia medica. The medicines were mostly bitter and cold in property and taste, mainly belonging to the liver and heart meridians. Heat-clearing drugs were mainly used, followed by blood circulation-activating and stasis-eliminating medicines, and tonic medicines. The ten most frequently used medicines were Sophorae Flavescentis Radix, Dictamni Cortex, Phellodendri Chinensis Cortex, Kochiae Fructus, Angelicae Sinensis Radix, Salviea Miltiorrhizae Radix et Rhizoma, Poria, Rehmannine Radix, and Arnebiae Radix; the 3 commonly used medicinal pairs were Sophorae Flavescentis Radix- Dictamni Cortex, Sophorae Flavescentis Radix- Cnidii Fructus, and Sophorae Flavescentis Radix- Kochiae Fructus; 4 combinations were obtained through evolution. Conclusions:External application of TCM for the treatment of PV is around the core pathogenesis of "heat toxin", mainly treating from the blood, including cooling blood and detoxifcation, activating blood circulation and removing stasis, nourishing the blood and moistening dryness. Clearing heat and drying dampness, dispelling wind and relieving itching are also valued. The treating thoughts can provide some references for clinical treatment.

9.
Shanghai Journal of Preventive Medicine ; (12): 719-723, 2023.
Article in Chinese | WPRIM | ID: wpr-988910

ABSTRACT

As a retrovirus with high recombination and mutation rate, HIV targets CD4+ T lymphocytes, causing damage to the body's immune system and eventually leading to severe immune function defects. Different subtypes of the HIV virus exhibit significant sequence differences in their structural and regulatory genes, and this diversity is closely related to etiology, transmission, diagnosis, drug therapy, disease progression, and vaccine development. As a country with the largest number of HIV subtypes, rapid and accurate typing of the HIV virus holds great significance for China's efforts in disease prevention and control. This study provides a comprehensive reveiw of domestic and international HIV genotyping methods, and summarizes the clinical significance of different subtypes in order to provide reference for further research.

10.
International Eye Science ; (12): 1653-1657, 2023.
Article in Chinese | WPRIM | ID: wpr-987885

ABSTRACT

Retinoblastoma(RB)is the most common intraocular malignant tumor of children. Chemotherapy is a preferred method in RB treatment, which includes intravenous chemotherapy, intra-arterial chemotherapy and intravitreal chemotherapy. However, the occurrence of chemotherapy resistance often leads to the failure of eye-preserving treatment in RB patients. Therefore, exploring the mechanism of the occurrence of chemotherapy resistance and searching for new strategies and combined medicines for RB treatment are of great clinical significance. This article reviews that RB cells obtain chemotherapy resistance through ATP binding cassette protein(ABC transporter), non-coding RNA, epigenetics modification, autophagy, epithelial mesenchymal transformation, extracellular matrix changes and other ways, and the potential therapeutic targets for chemotherapy resistance are also summarized, in the hope of providing some references for further research on chemotherapy resistance of RB.

11.
Chinese Pharmacological Bulletin ; (12): 340-347, 2023.
Article in Chinese | WPRIM | ID: wpr-1013862

ABSTRACT

Aim To explore and verify the possible mechanism of Jiawei Duhuo Jisheng Mixture(JDJM)in the treatment on Knee Osteoarthritis(KOA)via using network pharmacology and animal experiment. Methods The ingredients of JDJM and relevant targets were collected from TCMSP and BATMAN-TCM database. The KOA-related targets were collected from GeneCard, OMIM and GEO databases. The common targets were acquired by intersecting ingredients-related and KOA-related targets, and then the Ingredient-Disease-Target Network and PPI network were constructed by Cytoscape 3.7.2 software and STRING platform. GO and KEGG enrichment analysis were performed based on Metascape database. Finally, the key targets and relevant mechanism were validated via animal experiment. Results In the network pharmacology study, 180 active ingredients related to treatment on KOA by JDJM were collected, and 152 common targets were confirmed. PPI network analysis showed that AKT1 might be the key targets of JDJM in the treatment on KOA. GO and KEGG enrichment analysis revealed that the key target mainly concentrated on inflammatory response and apoptosis. Animal experiment confirmed that JDJM could improve lesion in KOA rabbits, and suppress the expression levels of IL-1β, TNF-α, Caspase 3 and BAX in serum and articular fluid. AKT1 expression(including mRNA and protein)in articular cartilage was also down-regulated. Conclusions Based on the results of network pharmacology and animal experiment, JDJM may relieve KOA severity by anti-inflammatory and anti-apoptotic effects through a variety of molecular signaling pathways.

12.
Chinese Pharmacological Bulletin ; (12): 1949-1956, 2023.
Article in Chinese | WPRIM | ID: wpr-1013698

ABSTRACT

Aim To investigate the effects of angelica sinensis polysaccharide (ASP) antagonizing 5-fluorou-raeil (5-FU) on spleen stress erythropoiesis in mice and its related mechanism. Methods C57BL/6J mice aged 6-8 weeks were randomly divided into control group, ASP group, 5-FU group and ASP + 5-FU group. The mouse body weight during the modeling pe-riod was recorded, and peripheral blood routine and the number of mononuclear cells in the bone marrow of femur were measured. Histopathology of spleen was de-tected, also the index and cellularity of spleen were analyzed. BFU-E of spleen mononuclear cells was counted. The number of F4/80

13.
Psychiatry Investigation ; : 1045-1053, 2023.
Article in English | WPRIM | ID: wpr-1002737

ABSTRACT

Objective@#To verify effects of rs1061622 at tumor necrosis factor-α receptor II (TNF-RII) gene (TNF-RII) on post-traumatic stress disorder (PTSD) and its interactive effects with PTSD on serum lipids levels in adolescents. @*Methods@#PTSD was measured by PTSD Checklist-Civilian Version (PCL-C) in 699 adolescent survivors at 6 months after Wenchuan earthquake in China. A polymerase chain reaction and restriction fragment length polymorphism assay were utilized for TNF-RII rs1061622 genotyping followed by verification using DNA sequencing. Serum triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol were tested using routine methods. @*Results@#G (deoxyguanine) allele carriers had higher PCL-C scores than TT (deoxythymidine) homozygotes in female subjects. Female adolescents had higher PCL-C scores than male subjects in TT homozygotes. Predictors of PTSD prevalence and severity were different between G allele carriers and TT homozygotes. Subjects with PTSD had lower TG, TG/HDL-C, TC/HDL-C, and higher HDL-C than adolescents without PTSD in male G allele carriers. G allele carriers had higher TG/HDL-C and TC/HDL-C than TT homozygotes in male adolescents without PTSD, and lower TG and TG/HDL-C in male PTSD patients. G allele carriers had higher TG than TT homozygotes only in female adolescents without PTSD. @*Conclusion@#These results suggest reciprocal actions of TNF-RII rs1061622 with other factors on PTSD severity, interplays of TNF-RII rs1061622 with PTSD on serum lipid levels, and novel treatment strategies for PTSD and comorbidities of PTSD with hyperlipidemia among adolescents with different genetic backgrounds of TNF-RII rs1061622 after experiencing traumatic events.

14.
Journal of the Korean Association of Oral and Maxillofacial Surgeons ; : 171-183, 2023.
Article in English | WPRIM | ID: wpr-1001628

ABSTRACT

Objectives@#Understanding the lingual nerve’s precise location is crucial to prevent iatrogenic injury. This systematic review seeks to determine the lingual nerve’s most probable topographical location in the posterior mandible. @*Materials and Methods@#Two electronic databases were searched, identifying studies reporting the lingual nerve’s position in the posterior mandible.Anatomical data in the vertical and horizontal dimensions at the retromolar and molar regions were collected for meta-analyses. @*Results@#Of the 2,700 unique records identified, 18 studies were included in this review. In the vertical plane, 8.8% (95% confidence interval [CI], 1.0%-21.7%) and 6.3% (95% CI, 1.9%-12.5%) of the lingual nerves coursed above the alveolar crest at the retromolar and third molar regions. The mean vertical distance between the nerve and the alveolar crest ranged from 12.10 to 4.32 mm at the first to third molar regions. In the horizontal plane, 19.9% (95% CI, 0.0%-62.7%) and 35.2% (95% CI, 13.0%-61.1%) of the lingual nerves were in contact with the lingual plate at the retromolar and third molar regions. @*Conclusion@#This systematic review mapped out the anatomical location of the lingual nerve in the posterior mandible, highlighting regions that warrant additional caution during surgeries to avoid iatrogenic lingual nerve injuries.

15.
Journal of Breast Cancer ; : 363-377, 2023.
Article in English | WPRIM | ID: wpr-1000772

ABSTRACT

Purpose@#PIK3CA and TP53 are the most prevalently mutated genes in breast cancer (BC).Previous studies have indicated an association between concomitant PIK3CA/TP53 mutations and shorter disease-free survival. As its clinical utility remains largely unknown, we aimed to analyze the prognostic and predictive roles of this co-mutation. @*Methods@#We retrospectively analyzed patients who were diagnosed with BC at Guangdong Provincial People’s Hospital (GDPH) who underwent next-generation sequencing. The correlation of concomitant PIK3CA/TP53 mutations with clinicopathological and mutational characteristics, and neoadjuvant systemic therapy (NST) responses was analyzed. The Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) dataset was used to verify associations between concurrent mutations and survival outcomes. @*Results@#In the GDPH cohort, concomitant PIK3CA/TP53 mutations were associated with more aggressive phenotypes, including human epidermal growth factor receptor 2 positive status, hormone receptor negative status, high Ki-67 expression, high histological grade, advanced TNM stage, and additional genetic alterations. Co-mutations also portended a worse response to NST, especially taxane-containing regimens, when compared with the TP53 mutant alone (odds ratio, 3.767; 95% confidence interval, 1.205–13.087; p = 0.028). A significant association was observed between concomitant PIK3CA/TP53 mutations and poor survival outcomes in the METABRIC cohort. @*Conclusion@#Concomitant PIK3CA/TP53 mutations not only suggested unfavorable features and poor prognosis in BC but also conferred less benefit to NST than TP53 mutations alone.

16.
Gut and Liver ; : 382-388, 2023.
Article in English | WPRIM | ID: wpr-1000376

ABSTRACT

Background/Aims@#We aimed to investigate the comfort, safety, and endoscopic visibility during esophagogastroduodenoscopy (EGD) afforded by a modified 4-hour semifluid and 2-hour water (“4+2”) fasting protocol. @*Methods@#In this parallel group, endoscopist-blinded, randomized controlled trial, outpatients undergoing unsedated diagnostic EGD from 10:30 AM to 12:00 PM were randomly assigned to either a “4+2” protocol group or a conventional fasting group. The participants’ comfort during the fasting period and procedure was measured using the visual analog scale, and mucosal visibility was measured by endoscopists using the total visibility score. Satisfaction was defined as a visual analog scale score of ≤3. The primary outcome was the participants’ comfort during fasting. @*Results@#One hundred and six and 108 participants were randomized to the “4+2” protocol and control groups, respectively. Participants’ comfort before EGD was significantly higher in the “4+2” protocol group measured by both the proportion of satisfaction (86.8% vs 63.9%, p=0.002) and the visual analog scale score (median [interquartile range]: 1.0 [1.0–2.0] vs 3.0 [1.0–4.0], p<0.001). The proportion of satisfaction during EGD also significantly improved (59.4% vs 45.4%, p=0.039) in the “4+2” protocol group. The total visibility score was unaffected by the fasting protocol (5.0 [4.0–5.0] vs 4.0 [4.0–5.0], p=0.266). No adverse events were observed during the study. @*Conclusions@#The “4+2” protocol was more comfortable and provided equal mucosal visibility and safety compared with conventional fasting for unsedated EGD.

17.
Diabetes & Metabolism Journal ; : 394-404, 2023.
Article in English | WPRIM | ID: wpr-1000249

ABSTRACT

Background@#To compare risk of diabetic retinopathy (DR) between patients taking sodium-glucose cotransporter-2 inhibitors (SGLT2is) and those taking glucagon-like peptide-1 receptor agonists (GLP1-RAs) in routine care. @*Methods@#This retrospective cohort study emulating a target trial included patient data from the multi-institutional Chang Gung Research Database in Taiwan. Totally, 33,021 patients with type 2 diabetes mellitus using SGLT2is and GLP1-RAs between 2016 and 2019 were identified. 3,249 patients were excluded due to missing demographics, age <40 years, prior use of any study drug, a diagnosis of retinal disorders, a history of receiving vitreoretinal procedure, no baseline glycosylated hemoglobin, or no follow-up data. Baseline characteristics were balanced using inverse probability of treatment weighting with propensity scores. DR diagnoses and vitreoretinal interventions served as the primary outcomes. Occurrence of proliferative DR and DR receiving vitreoretinal interventions were regarded as vision-threatening DR. @*Results@#There were 21,491 SGLT2i and 1,887 GLP1-RA users included for the analysis. Patients receiving SGLT2is and GLP-1 RAs exhibited comparable rate of any DR (subdistribution hazard ratio [SHR], 0.90; 95% confidence interval [CI], 0.79 to 1.03), whereas the rate of proliferative DR (SHR, 0.53; 95% CI, 0.42 to 0.68) was significantly lower in the SGLT2i group. Also, SGLT2i users showed significantly reduced risk of composite surgical outcome (SHR, 0.58; 95% CI, 0.48 to 0.70). @*Conclusion@#Compared to those taking GLP1-RAs, patients receiving SGLT2is had a lower risk of proliferative DR and vitreoretinal interventions, although the rate of any DR was comparable between the SGLT2i and GLP1-RA groups. Thus, SGLT2is may be associated with a lower risk of vision-threatening DR but not DR development.

18.
Chinese Journal of Medical Genetics ; (6): 1560-1565, 2023.
Article in Chinese | WPRIM | ID: wpr-1009341

ABSTRACT

OBJECTIVE@#To explore the clinical characteristics and genetic etiology for a child with atypical Hemolytic uremic syndrome (aHUS) in conjunct with nephrotic level proteinuria.@*METHODS@#A child patient who had visited the Affiliated Hospital of Qingdao University on June 25, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing of the child and his parents.@*RESULTS@#The child, an 8-month-old male, had presented mainly with edema, oliguria, hematuria, nephrotic level proteinuria, anemia, thrombocytopenia, increased creatinine and urea, hypercholesterolemia but normal complement levels. Genetic testing revealed that he has harbored compound heterozygous variants of the DGKE gene, namely c.12_18dupGAGGCGG (p.P7fs*37) and c.1042G>T (p.D348Y), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as likely pathogenic and variant of uncertain significance, respectively. By combining his clinical manifestations and results of genetic testing, the child was diagnosed with aHUS with nephrotic level proteinuria.@*CONCLUSION@#For infants and young children with aHUS in conjunct with nephrotic level proteinuria, variants of the DGKE gene should be screened. Above finding has expanded the mutational spectrum of the DGKE gene.


Subject(s)
Infant , Female , Humans , Child , Male , Child, Preschool , Atypical Hemolytic Uremic Syndrome/diagnosis , Mutation , Genetic Testing , Thrombocytopenia/genetics , Proteinuria/genetics
19.
China Journal of Chinese Materia Medica ; (24): 6526-6532, 2023.
Article in Chinese | WPRIM | ID: wpr-1008852

ABSTRACT

The fundamental principle of traditional Chinese medicine(TCM) is holism, and it is crucial for TCM to address the key issue of the "holistic view" of Chinese herbal medicine. While the overall regulatory effects of Chinese herbal medicine have been widely recognized, the holistic internal logic of individual ingredients of Chinese herbal medicines require further clarification. In order to comprehensively understand the mechanism of action of Chinese herbal medicine, this paper combined the holistic view of Chinese herbal medicine with differentiation thinking to explore the intrinsic logical relationships within Chinese herbal medicine. Starting from the perspective of the coexistence of multiple components in Chinese herbal medicine, this paper systematically examined the "self-consistent" phenomenon within single Chinese herbal medicine. This phenomenon refers to the consistent or opposing actions of various components in terms of their physical and chemical properties, pharmacokinetic effects, biological effects, flavors and properties, and TCM efficacy. The paper summarized various logical relationships of syndrome differentiation exhibited by the same Chinese herbal medicine, analyzed the underlying reasons, and focused on analyzing external factors affecting the "self-consistent" phenomenon in the efficacy of Chinese herbal medicine, aiming to better elucidate the theoretical basis of the pharmacological effects of Chinese herbal medicine, further enrich the scientific connotation of the holistic view of Chinese herbal medicine, and provide theoretical guidance for the preparation process, compatibility patterns, and formulation design of Chinese herbal medicine.


Subject(s)
Medicine, Chinese Traditional , Drugs, Chinese Herbal/therapeutic use
20.
China Journal of Chinese Materia Medica ; (24): 4508-4520, 2023.
Article in Chinese | WPRIM | ID: wpr-1008705

ABSTRACT

This study reviewed the current status of the use of outcome indicators in randomized controlled trial(RCT) on traditional Chinese medicine(TCM) treatment of microvascular angina(MVA) and analyzed the existing problems and possible solutions, aiming to provide a basis for the design of high-quality RCT and the establishment of core outcome sets for MVA. CNKI, Wanfang, VIP, SinoMed, PubMed, EMbase, Cochrane Library, Web of Science, and 2 clinical trial registries were searched for the RCT on TCM treatment of MVA according to pre-defined criteria. The Cochrane's risk of bias assessment tool was used to evaluate the methodological quality of the included RCT and the use of outcome indicators was summarized. A total of 69 RCTs were included, from which 100 outcome indicators were extracted, with the frequency of 430. The extracted outcome indicators belonged to 8 domains: response rate, symptoms and signs, physical and chemical examinations, TCM efficacy, safety, quality of life, economic evaluation, and long-term prognosis. The indicators of physical and chemical examinations were the most(70 indicators with the frequency of 211), followed by those of response rate(7 indicators with the frequency of 73) and symptoms and signs(7 indicators with the frequency of 54). The outcome indicators with higher frequency were adverse reactions, angina attack frequency, clinical efficacy, endothelin-1, total duration of treadmill exercise, and hypersensitive C-reactive protein. The RCT on TCM treatment of MVA had the following problems: irregular reporting of adverse reactions, diverse indicators with low frequency, lack of attention to the application of endpoint indicators, insufficient use of TCM differentiation and efficacy indicators, non-standard evaluation criteria and failure to reflect the basic characteristics of TCM. A unified MVA syndrome differentiation standard should be established, on the basis of which an MVA treatment efficacy evaluation system and core outcome indicator set that highlights the characteristics of TCM with patient-reported outcomes as the starting point should be established to improve the clinical research and research value.


Subject(s)
Humans , Medicine, Chinese Traditional , Drugs, Chinese Herbal/adverse effects , Microvascular Angina/drug therapy , Quality of Life , Phytotherapy , Treatment Outcome
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