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1.
Chinese Pharmacological Bulletin ; (12): 125-132, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1013614

RESUMO

Aim To prepare tripterygium glycoside nanoparticles and probe into their therapeutic effect on collagen-induced arthritis ( CIA) rats. Methods Tripterygium glycosides polyglycoside nanoparticles were prepared by thin film dispersion method and their quality was assessed. The CIA model was established and drug intervention performed. The body weight, toe swelling degree and arthritis index were measured. The pathological changes of the organs, knee and ankle synovium were observed. The serum levels of kidney function and inflammatory cytokine expression were detected in rats. Results The prepared tripterygium wil-fordii polyglycoside nanoparticles were round particles with uniform distribution and stable properties under electron microscope. Compared with the model group, the swelling of the left and right toes of medication group significantly decreased (P < 0. 01), and the ar-thritis index markedly decreased ( P < 0. 01). Among them, the efficacy of the TG-NPs group was better than that of the TG group. Compared with the normal group, the indexes of heart, spleen, kidney and testis all significantly decreased (P <0. 05, P<0.01). TG-NPs group had a significantly reduced pathological ankle-joint injury in knee cartilage and increased apoptotic synovial cells. Compared with the model group, the serum levels of ALT and BUN and CRE in TG-NPs group were significantly lower (P < 0. 05 ), and IL-1β, TNF-α and IL-6 levels decreased significantly (P <0. 05). Conclusions TG-NPs have good therapeutic effect on CIA through induction of synovial cell apoptosis and decrease of the expression of inflammatory cytokines. By intravenous injection of blood circula-tion, slow and controlled release of drugs can be achieved, the first pass effect caused by oral drug can be avoided, the viscera toxicity can be reduced, which provides an experimental basis for the development of new nanoagents for the treatment of rheumatoid arthritis.

2.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 29-35, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1013281

RESUMO

ObjectiveTo analyze the psychological resilience characteristics of visually impaired adolescents. MethodsFrom February to May, 2023, 13 visually impaired adolescents (average age of 16.5 years) from Nanjing Normal University of Special Education, Yangzhou Special Education School and Nanjing School for the Blind in Jiangsu, China were selected for semi-structured interviews with phenomenological method, and the interview data were sorted by theme analysis method. ResultsFour themes and twelve sub-themes were obtained; namely multiple sources of difficulties, including travel difficulties, learning difficulties, social difficulties and difficulties in daily life; need for external support, including insufficient family support, school support needs to be improved, need for peer support and insufficient social support; negative and positive adaptation coexist, including negative adaptation and positive adaptation; and negative coping and positive coping coexist, including positive coping and negative coping. ConclusionThe psychological resilience of visually impaired adolescents is characterized by multiple sources of difficulties, insufficient external support, coexistence of positive and negative adaptation, and coexistence of positive and negative coping. A joint family-school-society support system should be formed to reduce the source of their difficulties, and help them establish positive adaptation and positive coping methods, to enhance their psychological resilience.

3.
China Pharmacy ; (12): 327-332, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1006618

RESUMO

OBJECTIVE To optimize ethanol extraction process of Yihuang powder. METHODS An orthogonal experiment was designed by reflux extraction with ethanol volume fraction, liquid-to-material ratio, and extraction time as investigation factors. The parameters used were the contents of hesperidin, nobiletin, tangeretin, gallic acid, chebulagic acid, chebulinic acid, liquiritin, glycyrrhizin, eugenol, and the paste-forming rate. The analytic hierarchy process (AHP) was used to calculate the comprehensive score. The optimal ethanol extraction process parameters of Yihuang powder were determined by verifying the results predicted by orthogonal experiment and genetic algorithm (GA)-back propagation neural network (BP neural network). RESULTS The optimal ethanol extraction process parameters, as optimized by orthogonal experiment, were as follows: ethanol volume fraction of 60%, liquid-solid ratio of 14∶1 (mL/g), extraction time of 90 min, and extraction for 2 times. The comprehensive score obtained by verification was 79.19. Meanwhile, the optimal ethanol extraction process parameters, optimized by GA-BP neural network, were ethanol volume fraction of 65%, liquid-solid ratio of 14∶1 (mL/g ), extraction time of 60 min, and extraction for 2 times. The comprehensive score obtained by verification was 85.30, higher than the results obtained from orthogonal experiment. CONCLUSIONS The optimization method of orthogonal experiment combined with GA-BP neural network is superior to the traditional orthogonal experiment optimization method. The optimized ethanol extraction process of Yihuang powder is stable and reliable.

4.
Acta Pharmaceutica Sinica ; (12): 170-182, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1005440

RESUMO

Thirty-one phenolic constituents were isolated and purified from the 95% ethanol extract of Sanguisorbae Radix by using various chromatographic techniques, including macroporous resin, silica gel, ODS, Sephadex LH-20 and semi-preparative HPLC. Their structures were elucidated by physicochemical properties, spectroscopic data (MS and NMR) and electronic circular dichroism (ECD) spectra, and identified as 3-methoxyl-2S,3S-epoxyflavanone (1a), 3-methoxyl-2R,3R-epoxyflavanone (1b), longifoin B (2), longifoin C (3), eriodictyol (4), naringenin (5), liquiritigenin (6), 5,3ʹ-dihydroxy-7,4ʹ-dimethoxyflavanone (7), naringenin-7-O-β-D-glucopyranoside (8), dihydroquercetin (9), dihydrokaempferol (10), (-)-garbanzol (11), (2R,3R)-4-methoxyl-distylin (12), kaempferol (13), quercetin (14), α,4,2′,4′-tetrahydroxydihydrochalcone (15), phloretin (16), (+)-catechin (17), ethyl (+)-cyanidan-3-ol-8-carboxylate (18), phyllocoumarin (19), methyl 3-methoxy-4,5-dihydroxybenzoate (20), 4,5-dimethoxy-3-hydroxybenzoic acid methyl ester (21), 3,4′-di-O-methylellagic acid (22), 3,4,3′-O-trimethylellagic acid (23), 3,3ʹ,4ʹ-O-trimethylellagic acid-4-O-β-D-xyloside (24), (3R)-thunberginol C (25), resveratrol (26), 1-hydroxypinoresinol (27), (7S,8S)-3-methoxy-3′,7-epoxy-8,4′-oxyneoligna-4,9,9′-triol (28), emodin-8-O-β-D-glucoside (29), phloracetophenone (30) and 4-(4′-hydroxyphenyl)-butan-2-one (31). Among them, compound 1a and 1b is a pair of new flavonoid enantiomers, compounds 2 and 3 are a pair of new epimers, while compounds 4, 5, 6, 9, 10, 13, 16 and 26 were obtained from S. officinalis for the first time, compounds 7, 8, 27, 30 and 31 were isolated for the first time from the S. officinalis genus, and compounds 11, 12, 15, 18, 19, 25, 28 and 29 were isolated for the first time from the Rosaceae. The antioxidant activities of compounds 1-24 were evaluated by activating the Nrf2 transcriptional pathway, which were measured by the dual-luciferase reporter gene assay in 293T cells. Compounds 4, 6-10, 12, 14, 17, 19, 20 and 22-24 showed significant Nrf2 agonistic effect compared with the control group at 25 μmol·L-1, which provided reference for the research of their antioxidant activity.

5.
Acta Pharmaceutica Sinica B ; (6): 836-853, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1011273

RESUMO

Conventional chemotherapy based on cytotoxic drugs is facing tough challenges recently following the advances of monoclonal antibodies and molecularly targeted drugs. It is critical to inspire new potential to remodel the value of this classical therapeutic strategy. Here, we fabricate bisphosphonate coordination lipid nanogranules (BC-LNPs) and load paclitaxel (PTX) to boost the chemo- and immuno-therapeutic synergism of cytotoxic drugs. Alendronate in BC-LNPs@PTX, a bisphosphonate to block mevalonate metabolism, works as both the structure and drug constituent in nanogranules, where alendronate coordinated with calcium ions to form the particle core. The synergy of alendronate enhances the efficacy of paclitaxel, suppresses tumor metastasis, and alters the cytotoxic mechanism. Differing from the paclitaxel-induced apoptosis, the involvement of alendronate inhibits the mevalonate metabolism, changes the mitochondrial morphology, disturbs the redox homeostasis, and causes the accumulation of mitochondrial ROS and lethal lipid peroxides (LPO). These factors finally trigger the ferroptosis of tumor cells, an immunogenic cell death mode, which remodels the suppressive tumor immune microenvironment and synergizes with immunotherapy. Therefore, by switching paclitaxel-induced apoptosis to mevalonate metabolism-triggered ferroptosis, BC-LNPs@PTX provides new insight into the development of cytotoxic drugs and highlights the potential of metabolism regulation in cancer therapy.

6.
Gut and Liver ; : 916-925, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1000401

RESUMO

Background/Aims@#The involvement of long noncoding RNAs in the carcinogenesis of hepatocellular carcinoma (HCC) has been well documented by substantial evidence. However, whether cytoskeleton regulator RNA (CYTOR) could affect the progression of HCC remains unclear. @*Methods@#The relative expression of CYTOR, miR-125a-5p and HS1-associated protein X-1 (HAX-1) mRNA in HCC cells were determined via quantitative real-time polymerase chain reaction. The viability of treated HCC cells was measured by Cell Counting Kit-8 assay. Cell apoptosis was estimated by flow cytometry analysis, assessment of caspase-9 activity and terminal deoxynucleotidyl transferase dUTP nick-end labeling staining, and Western blot of apoptosisrelated proteins. The interplay between CYTOR or HAX-1 and miR-125a-5p was validated by dual-luciferase reporter assay. @*Results@#CYTOR was upregulated and miR-125a-5p was downregulated in HCC cells. CYTOR silencing inhibited cell proliferation and promoted cell apoptosis in HepG2 and SMMC-7721 cells.miR-125a-5p was sponged and negatively regulated by CYTOR, and HAX-1 was directly targeted and negatively modulated by miR-125a-5p. Overexpression of miR-125a-5p enhanced the repressive effects of CYTOR knockdown on HCC cells, and knockdown of HAX-1 enhanced the inhibitory effects of miR-125a-5p mimics on HCC cells. @*Conclusions@#CYTOR silencing facilitates HCC cell apoptosis in vitro via the miR-125a-5p/HAX-1 axis.

7.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 943-948, 2023.
Artigo em Chinês | WPRIM | ID: wpr-998985

RESUMO

ObjectiveTo investigate the application of optical genome mapping (OGM) technology in detecting complex chromosomal rearrangement. MethodsWe recruited five patients who were diagnosed as complex chromosomal rearrangement at the Reproductive Medicine Center of the Sixth Affiliated Hospital of Sun Yat-sen University from January 2022 to June 2023. They underwent OGM, nanopore sequencing and pre-implantation genetic testing (PGT). The results were compared with the results of karyotype and chromosomal microarray analysis (CMA)/ copy number variation sequencing (CNV-Seq). ResultsOGM could detect translocation, invert inversion, and triplet translocation, which were consistent with the results of OGM and CMA/ CNV-Seq. But OGM could not detect Robertsonian translocation. ConclusionBecause of its ultra-long reads, OGM realizes the detection across repetitive regions, and it has great advantages when applied in patients with complex chromosome rearrangement or uncertain karyotype analysis. It can accurately locate breakpoints.

8.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 1267-1272, 2023.
Artigo em Chinês | WPRIM | ID: wpr-996957

RESUMO

@#Objective     To explore the application of Body Tom® mobile CT combined with basic anesthesia in preoperative painless positioning of small pulmonary nodules, and evaluate its safety and effectiveness. Methods     Patients using mobile Body Tom® CT to accurately locate pulmonary nodules in the Department of Thoracic Surgery of Affiliated Nanjing Brain Hospital, Nanjing Medical University from August to October 2022 were retrospectively included. Clinical data of the whole patient group were analyzed. Results    We finally included 30 patients with 12 males and 18 females at age of 23-71 years. The position success rate of 30 patients with small pulmonary nodules was 100.0%. Location time was 14.20±4.07 min. There was one patient of intrapulmonary hemorrhage, with no other complications such as pneumothorax, positioning needle shedding, or pleural reaction. The time from the end of positioning to the start of surgery was 12.63±5.68 min. There was no needle migration or indocyanine green overflow. All patients completed resection of small pulmonary nodules under single-port thoracoscopy, no transit to opening chest. The average operation time was 85.32±12.60 min. There was no postoperative complications, and the average postoperative chest tube retention time was 2.12±1.34 days. And the average length of hospital stay was 3.52±1.45 days. The postoperative pathological results showed that the distance from the nodules was greater than 2 cm. Conclusion     Body Tom® mobile CT combined with basic anesthesia can achieve the preoperative painless, precise positioning of pulmonary nodules, effectively reduce the incidence of preoperative positioning complications, shorten the operation waiting time, ensure the safety and effectiveness of patients with preoperative pulmonary nodules positioning, and further improve the surgical comfort of patients, which has certain clinical application value.

9.
China Pharmacy ; (12): 2371-2377, 2023.
Artigo em Chinês | WPRIM | ID: wpr-996394

RESUMO

OBJECTIVE To compare the similarities and differences between raw and different preparations of Terminalia chebula based on fingerprint, antioxidant spectrum-effect correlation and multi-component contents, and to provide a reference for searching for modern processing methods of T. chebula that are similar to classical ancient methods. METHODS Ten batches of raw and different preparations of T. chebula (single stir-fried products, bran-roasted products, sand-scorched products, ash-roasted products, stir-fried charcoal products, and wine-steamed products) were used as test samples. The high-performance liquid chromatography (HPLC) fingerprints of different samples were established by using the Similarity Evaluation System for Chromatographic Fingerprint of TCM (2012 edition), the chromatographic peaks were identified, and chemometrics analysis was carried out. At the same time, HPLC method was used to determine the contents of 8 identified components. The antioxidant capacity of raw and different preparations of T. chebula was determined by DPPH free radical scavenging method, and the spectrum- effect relationship was analyzed. RESULTS A total of 20 common peaks were identified in the fingerprints of the raw and different preparations of T. chebula, and the similarity of each sample was >0.9. Nine common peaks were identified from the raw and different preparations of T. chebula, including chromatographic peak 2 (chebulic acid), 3 (gallic acid), 6 (punicalagin A), 8 (punicalagin B), 12 (corilagin), 15 (chebulagic acid), 18 (ellagic acid), 19 (1,2,3,4,6-O-pentagalloyl glucose), 20 (chebulinic acid), etc. Compared with crude drug, the contents of the above 8 components (punicalagin A and B are recorded as punicalagin) in different preparations of T. chebula were changed, and the changes of the contents of the stir-fried charcoal and wine-steamed products were more obvious than those of other processed products. Chemometric analysis showed that the fingerprints of stir-fried charcoal and wine-steamed products of T. chebula were obviously distinguished from other processed products, and the fingerprint information of raw products and other processed products of T. chebula was partially overlapped. Four main differential components (chebulinic acid, chebulagic acid, gallic acid, ellagic acid) were obtained between raw and processed products of T. chebula; and four main effective components (chebulinic acid, chebulagic acid, gallic acid, corilagin) were obtained by analyzing the spectrum-effect relationship of antioxidant activity. The single stir-fried product of T. chebula showed the strongest antioxidant activity. CONCLUSIONS The single stir-frying method is a modern processing method of T. chebula which is similar to the classical ancient method and is more excellent.

10.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 39-44, 2023.
Artigo em Chinês | WPRIM | ID: wpr-988178

RESUMO

ObjectiveTo explore the mechanism of plumbagin as a novel ferroptosis inducer in bladder cancer inhibition. MethodBladder cancer T24 cells were used in this study. The effect of different concentrations of plumbagin (0.1, 1, 2, 3, 6, 12, 24, 48 μmol·L-1) on the viability of T24 cells was detected by cell counting kit-8 (CCK-8). The effect of different concentrations of plumbagin (1.5, 3, 6 μmol·L-1) on the apoptosis of T24 cells was detected by annexin V-fluorescein isothiocyanate (Annexin V FITC)/PI apoptosis kit. Different inhibitors (ferroptosis inhibitor Fer-1, apoptosis inhibitor VAD, and necroptosis inhibitor Nec-1) were used in combination with plumbagin (6 μmol·L-1). Reactive oxygen species (ROS) fluorescent probe (DCFH-DA), malonaldehyde (MDA), and glutathione (GSH) kits were used to detect the effects of different concentrations of plumbagin (1.5, 3, 6 μmol·L-1) on the level of ROS and the content of MDA and GSH in T24 cells, respectively. The effect of different concentrations of plumbagin (1.5, 3, 6 μmol·L-1) on peroxide levels in T24 cells was detected by C11-BODIPY fluorescent probe. Western blot was used to detect the effect of different concentrations of plumbagin (1.5, 3, 6 μmol·L-1) on the protein expression of solute carrier family 7 member 11 (SLC7A11), glutathione peroxidase 4 (GPX4), nuclear factor E2-related factor-2 (Nrf-2), and Kelch-like ECH-associated protein 1 (Keap1). ResultCompared with the blank group, plumbagin could inhibit the activity of T24 cells (P<0.05) with IC50 of 3.52 μmol·L-1. At the concentrations of 1.5, 3, 6 μmol·L-1, plumbagin significantly promoted the apoptosis of T24 cells (P<0.05) as compared with the blank group. Compared with the plumbagin group at 6 μmol·L-1, the ferroptosis inhibitor and apoptosis inhibitor groups could reverse the inhibitory effect of 6 μmol·L-1 plumbagin on the proliferation of T24 cells (P<0.05). Compared with the blank group, the plumbagin groups at 1.5, 3, 6 μmol·L-1 showed increased content of ROS, MDA, and lipid peroxides in T24 cells, decreased GSH level, and reduced SLC7A11, GPX4, and Nrf-2/Keap1 (P<0.05). Conclusionplumbagin can induce ferroptosis, and its mechanism is related to the Nrf-2/Keap1 signaling pathway.

11.
Chinese Journal of Schistosomiasis Control ; (6): 458-463, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1003602

RESUMO

Objective To evaluate the performance of recombinase-aided amplification (RAA) assay in detection of Clonorchis sinensis metacercariae in freshwater fish samples, so as to provide insights into standardization and field application of this assay. Methods Wild freshwater fish samples were collected in the rivers of administrative villages where C. sinensis-infected residents lived in Jiangyan District, Xinghua County and Taixing County of Taizhou City, Jiangsu Province from June to September 2022. Genomic DNA was extracted from six freshwater fish specimens (5 g each) containing 0, 1, 2, 4, 8 and 16 C. sinensis metacercariae for fluorescent RAA assay, and the diagnostic sensitivity was evaluated. Fluorescent RAA assay was performed with genomic DNA from C. sinensis, Metorchis orientalis, Haplorchis pumilio and Centrocestus formosanus metacercariae as templates to evaluate its cross-reactions. In addition, the detection of fluorescent RAA assay and direct compression method for C. sinensis metacercariae was compared in field-collected freshwater fish samples. Results Positive amplification was found in fresh-water fish specimens containing different numbers of C. sinensis metacercariae, and fluorescent RAA assay was effective to detect one C. sinensis metacercaria in 5 g freshwater fish specimens within 20 min. Fluorescent RAA assay tested negative for DNA from M. orientalis, H. pumilio and C. formosanus metacercariae. Fluorescent RAA assay and direct compression method showed 5.36% (93/1 735) and 2.88% (50/1 735) detection rates for C. sinensis metacercariae in 1 735 field-collected freshwater fish samples, with a statistically significant difference seen (χ2 = 478.150, P < 0.001). There was a significant difference in the detection of C. sinensis metacercariae in different species of freshwater fish by both the direct compression method (χ2 = 11.20, P < 0.05) and fluorescent RAA assay (χ2 = 20.26, P < 0.001), and the detection of C. sinensis metacercariae was higher in Pseudorasbora parva than in other fish species by both the direct compression method and fluorescent RAA assay (both P values < 0.05). Conclusions Fluorescent RAA assay has a high sensitivity for detection of C. sinensis metacercariae in freshwater fish samples, and has no cross-reactions with M. orientalis, H. pumilio or C. formosanus metacercariae. Fluorescent RAA assay shows a higher accuracy for detection of C. sinensis infections in field-collected freshwater fish than the direct compression method.

12.
Journal of China Pharmaceutical University ; (6): 544-552, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1003574

RESUMO

@#Biomimetic nano formulations of biofilms have low immunogenicity, high targeting, and good biocompatibility, and can avoid being cleared by the endothelial reticular system, thus with in longer blood circulation time in the body.This article mainly reviews the main types as well as advantages and disadvantages of biomimetic nano formulations of biofilms, including tumor cell membranes, red blood cell membranes, platelet membranes, white blood cell membranes, stem cell membranes, extracellular vesicles (exosomes, microvesicles, and apoptotic bodies), endoplasmic reticulum membranes, and composite biofilms, with also a prospect of the challenges facing biomimetic nano formulations of biofilms and their future development based on their current research status, aiming to provide some insight for further research on biomimetic nano formulations of biofilms.

13.
Journal of Forensic Medicine ; (6): 193-199, 2023.
Artigo em Inglês | WPRIM | ID: wpr-981854

RESUMO

Talent is one of the basic and strategic supports for building a modern socialist country in all aspects. Since the 1980s, the establishment of forensic medicine major and the cultivation of innovative talents in forensic medicine have become hot topics in higher education in forensic medicine. Over the past 43 years, the forensic medicine team of Shanxi Medical University has adhered to the joint education of public security and colleges, and made collaborative innovation, forming a training mode of "One Combination, Two Highlights, Three Combinations, Four in One" for innovative talents in forensic medicine. It has carried out "5+3/X" integrated reform, and formed a relatively complete talent training innovation mode and management system in teaching, scientific research, identification, major, discipline, team, platform and cultural construction. It has made a historic contribution to China's higher forensic education, accumulated valuable experience for the construction of first-class major and first-class discipline of forensic medicine, and provided strong support for the construction of the national new forensic talent training system. The popularization of this training mode is conducive to the rapid and sustainable development of forensic science, and provides more excellent forensic talents for national building, regional social development and the discipline construction of forensic science.


Assuntos
Humanos , Medicina Legal/educação , Aptidão
14.
Chinese Journal of Medical Genetics ; (6): 842-846, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981833

RESUMO

OBJECTIVE@#To explore the clinical features and genetic basis of a child with Galactosemia.@*METHODS@#A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variants were validated by Sanger sequencing.@*RESULTS@#Clinical manifestations of the child have included anemia, feeding difficulty, jaundice, hypomyotonia, abnormal liver function and coagulation abnormality. Tandem mass spectrometry showed increased citrulline, methionine, ornithine and tyrosine. Urine organic acid analysis showed increased phenyllactic acid, 4-hydroxyphenylacetic acid, 4-hydroxyphenyllactic acid, 4-hydroxyphenylpyruvate and N-acetyltyrosine. Genetic testing revealed that the child has harbored compound heterozygous variants of the GALT gene, namely c.627T>A (p.Y209*) and c.370G>C (p.G124R), which were respectively inherited from her healthy parents. Among these, c.627T>A (p.Y209*) was known as a likely pathogenic variant, while c.370G>C (p. G124R) was unreported previously and also predicted as a likely pathogenic variant(PM1+PM2_Supporting+PP3_Moderate+PPR).@*CONCLUSION@#Above discovery has expanded the spectrum of the GALT gene variants underlying Galactosemia. Patients with thrombocytopenia, feeding difficulties, jaundice, abnormal liver function and coagulation abnormality without obvious causes should be analyzed by screening of metabolic diseases in combination with genetic testing.


Assuntos
Criança , Feminino , Humanos , Galactosemias/genética , Testes Genéticos , Nível de Saúde , Metionina , Hipotonia Muscular , Mutação
15.
Chinese Journal of Medical Genetics ; (6): 787-794, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981824

RESUMO

OBJECTIVE@#To explore the clinical and genetic characteristics of four patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD).@*METHODS@#Four children who had presented at the Children's Hospital Affiliated to Zhengzhou University between August 2019 and August 2021 were selected as the study subjects. Clinical data of the children were collected. The children were subjected to whole exome sequencing (WES).@*RESULTS@#All of the four children were diagnosed with MCADD. Blood amino acid and ester acyl carnitine spectrum test showed that the concentration of octanoyl carnitine (C8) was significantly increased. The main clinical manifestations included poor mental response (3 cases), intermittent diarrhea with abdominal pain (1 case), vomiting (1 case), increased transaminase (3 cases), and metabolic acidosis (2 cases). Five variants were identified by genetic testing, among which c.341A>G (p.Y114C) was unreported previously. Three were missense variants, one was frameshift variant and one was splicing variant.@*CONCLUSION@#The clinical heterogeneity of MCADD is obvious, and the severity of the disease may vary. WES can assist with the diagnosis. Delineation of the clinical symptoms and genetic characteristics of the disease can facilitate early diagnosis and treatment of the disease.


Assuntos
Criança , Humanos , Acil-CoA Desidrogenase/genética , Carnitina , Testes Genéticos , Erros Inatos do Metabolismo Lipídico/genética , Triagem Neonatal
16.
Acta Physiologica Sinica ; (6): 248-254, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981002

RESUMO

Trace amines are endogenous molecules distributed in the central nervous system and peripheral tissues that resemble common biogenic amines in terms of subcellular localization, chemical structure, and metabolism. Trace amine-associated receptor (TAAR) is a kind of evolutionarily conserved G-protein-coupled receptors in vertebrates, in which TAAR1 is a functional regulator of monoamine transmitters such as dopamine and serotonin. TAAR1 is widely considered as a potential therapeutic target for schizophrenia, depression and drug addiction. Moreover, TAAR1 is also expressed in peripheral tissues. The homeostasis imbalance of trace aminergic system can induce over-activation of peripheral immune system and central immune inflammatory response. TAAR1 modulators are becoming potential emerging drugs for the treatment of immune-related illnesses, because they may play a major role in the activation or modulation of immune response.


Assuntos
Animais , Humanos , Receptores Acoplados a Proteínas G/metabolismo , Aminas Biogênicas , Dopamina , Transtornos Relacionados ao Uso de Substâncias
17.
Chinese Journal of Geriatrics ; (12): 310-315, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993813

RESUMO

Objective:To investigate the relationship between the number of epithelial progenitor cells(EPCs)in peripheral blood and blood parameter values in order to clarify the relationship between peripheral blood EPCs and the length of survival in elderly individuals aged 75 and beyond.Methods:Analysis was conducted on 114 individuals ≥75 years recruited from the Department of Geriatrics, Tianjin Medical University General Hospital in 2008.Clinical data were collected with December 31, 2020 as the end of the follow-up.Associations between peripheral blood EPC numbers, blood parameter values and all-cause mortality were analyzed.Results:In low and high EPC groups based on orthogonal partial least squares-discriminant analysis(OPLS-DA), D-Dimer was found to be a potential classification marker[the variable importance in projection(VIP)=4.750], out of a panel of blood tests.Blood parameters such as red blood cells(RBC), hemoglobin(HGB), hematocrit(HCT), aspartate aminotransferase(AST), gamma-glutamyl transferase(GGT), lactate dehydrogenase(LDH)and D-Dimer showed statistically significant differences between groups with different levels of EPCs(all P<0.05). Blood EPC numbers were positively correlated with RBC, HGB and HCT and negatively correlated with GGT and D-Dimer in older individuals( r=0.364, 0.343, 0.336, -0.312, -0.312, P<0.05 for all). The number of circulating EPCs had a significant positive correlation with survival time in older individuals( r=0.234, P=0.017). Based on the data of the long-term(12-years)follow-up, Logistic regression analysis suggested that the number of EPCs, age, and HCT were associated with all-cause mortality events in older individuals( OR=0.971, 1.585, 1.231, P=0.013, 0.012, 0.029). Conclusions:EPCs in the peripheral circulation may be involved in the progression of various conditions such as anemia, cardiac, hepatic and renal injury, and coagulation.The number of circulating EPCs may influence the survival of elderly individuals ≥75 years.Age and HCT may be risk factors for all-cause mortality events, whereas the number of EPCs may be a protective factor.

18.
Chinese Journal of Geriatrics ; (12): 239-242, 2023.
Artigo em Chinês | WPRIM | ID: wpr-993800

RESUMO

Irrational drug use is common and inevitable in the elderly population, which leads to the occurrence of adverse drug reactions, the increase of hospital readmission rate and related mortality rate, and the increase of medical economic burden.Therefore, it is imperative to reduce irrational drug use, and the standardized drug prescription has become a new challenge for clinicians and pharmacists.Accurate detection method of irrational drug use, practical and effective drug use scheme, and intervention measures are the key to guide rational drug use in clinical practice.Mainly in terms of risk factors of irrational drug use, the status quo and its coping strategies, this paper reviews the research status at home and abroad in order to reduce irrational drug use in the elderly, reduce drug risk, and improve medication environment for the elderly.

19.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 901-904, 2023.
Artigo em Chinês | WPRIM | ID: wpr-991842

RESUMO

Objective:To evaluate the clinical efficacy of acupuncture combined with extracorporeal shock wave therapy in the treatment of piriformis syndrome.Methods:Eighty patients with piriformis syndrome who received treatment in Huaihe Energy Occupational Disease Prevention Hospital Rehabilitation Medicine Center from February 2021 to December 2022 were included in this study. They were divided into a treatment group ( n = 40) and a control group ( n = 40) according to different treatment methods using a retrospective cohort study design. The treatment group was treated with acupuncture combined with extracorporeal shock wave therapy, once every 7 days for 3 consecutive weeks. The control group was treated with extracorporeal shock wave therapy alone once every 7 days for 3 consecutive weeks.Pre- and post-treatment visual analogue scale scores and clinical efficacy were compared between the two groups. Results:There was no significant difference in baseline data between the two groups (all P > 0.05). After treatment, the visual analogue scale score decreased in each group. After adjusting for covariates, there was no significant difference in visual analogue scale score between the two groups ( F = 112.38, P < 0.001). After adjusting the pre-treatment visual analogue scale score, the post-treatment visual analogue scale score in the treatment group was lower than that in the control group [1.417 (95% CI: 1.151-1.683)]. The total response rate in the treatment group was 97.5% (39/40), which was significantly higher than 82.5% (33/40) in the control group ( Z = -2.03, P = 0.042). Conclusion:Acupuncture combined with extracorporeal shock wave therapy is highly effective on piriformis syndrome.

20.
Chinese Journal of Endemiology ; (12): 675-678, 2023.
Artigo em Chinês | WPRIM | ID: wpr-991692

RESUMO

Objective:To analyze the external quality control assessment results of urinary iodine, salt iodine and water iodine in iodine deficiency disorders laboratories in Qinghai Province, to evaluate the testing capacity of provincial, municipal and county-level laboratories and the operation of external quality control network, so as to provide quality assurance for consolidating and eliminating iodine deficiency disorders.Methods:In 2021, 1 provincial, 8 municipal, and 43 county-level laboratories in Qinghai Province had participated in the assessment of urinary iodine and salt iodine, while 1 provincial and 8 municipal-level laboratories had participated in the assessment of water iodine. The assessment results were evaluated using the method of reference value ± uncertainty of external quality control samples.Results:All laboratories that participated in the assessment had provided feedback. One provincial-level laboratory passed the assessment of urinary iodine, salt iodine, and water iodine. Among 8 municipal-level laboratories, 2 laboratories failed the urinary iodine assessment, with a pass rate of 6/8; the assessment of salt iodine and water iodine in 8 laboratories were all qualified. Among 43 county-level laboratories, 7 laboratories failed the urinary iodine assessment, with a pass rate of 83.7% (36/43); the assessment of salt iodine in 43 laboratories were all qualified.Conclusions:The external quality control network of iodine deficiency disorders laboratories in Qinghai Province has fully covered all municipal and county-level laboratories. The testing capability of provincial-level laboratory is stable and maintains a high level; the testing quality of some municipal and county-level laboratories is still unstable and needs to be further strengthened.

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